P31947	155	155	M -> I (in dbSNP:rs11542705).
O55764	128	129	RD -> KS.
O55764	446	446	S -> M.
P30443	33	33	F -> S (in allele A*01:02; dbSNP:rs2075684).
P30443	41	41	R -> S (in allele A*01:02).
P30443	80	80	G -> R (in allele A*01:07).
P30443	89	89	R -> G (in dbSNP:rs1059459).
P30443	91	91	M -> V (in allele A*01:07).
P30443	100	100	A -> E (in allele A*01:07).
P30443	114	114	D -> A (in allele A*01:07).
P30443	121	121	I -> M (in allele A*01:03).
P30443	131	131	G -> W (in dbSNP:rs1136702).
P30443	133	133	F -> L (in dbSNP:rs1059488).
P30443	151	151	N -> K (in dbSNP:rs1059509).
P30443	166	166	I -> T (in dbSNP:rs1059516).
P30443	169	169	R -> H (in dbSNP:rs1059520).
P30443	180	180	R -> L (in allele A*01:06).
P30443	182	182	V -> A (in allele A*01:06).
P30443	205	205	R -> H (in dbSNP:rs17185861).
Q9TQH5	33	33	F -> Y (in allele A*02:05, allele A*02:06, allele A*02:08, allele A*02:10 and allele A*02:21).
Q9TQH5	54	54	D -> N (in allele A*02:21).
Q9TQH5	65	65	A -> G (in allele A*02:31).
Q9TQH5	67	67	Q -> R (in allele A*02:02, allele A*02:05 and allele A*02:08).
Q9TQH5	90	90	K -> N (in allele A*02:08 and allele A*02:20).
Q9TQH5	94	94	H -> Q (in allele A*02:34 and allele A*02:35).
Q9TQH5	97	97	T -> I (in allele A*02:11).
Q9TQH5	98	98	H -> D (in allele A*02:11 and allele A*02:35).
Q9TQH5	119	119	V -> L (in allele A*02:02, allele A*02:05, allele A*02:08 and allele A*02:17).
Q9TQH5	121	121	R -> M (in allele A*02:04 and allele A*02:17).
Q9TQH5	123	123	Y -> C (in allele A*02:07 and allele A*02:18).
Q9TQH5	123	123	Y -> F (in allele A*02:10 and allele A*02:17).
Q9TQH5	131	131	W -> G (in allele A*02:10).
Q9TQH5	162	162	M -> K (in allele A*02:18).
Q9TQH5	173	173	A -> T (in allele A*02:03).
Q9TQH5	176	176	V -> E (in allele A*02:03 and allele A*02:13).
Q9TQH5	180	180	L -> Q (in allele A*02:12, allele A*02:13 and allele A*02:37).
Q9TQH5	180	180	L -> W (in allele A*02:02, allele A*02:03, allele A*02:05 and allele A*02:08).
Q9TQH5	187	187	T -> E (in allele A*02:16; requires 2 nucleotide substitutions).
Q9TQH5	190	190	E -> D (in allele A*02:36 and allele A*02:37).
Q9TQH5	191	191	W -> G (in allele A*02:36 and allele A*02:37).
Q9TQH5	260	260	A -> E (in allele A*02:09).
Q9MYG4	89	89	R -> G (in dbSNP:rs1059459).
Q9MYG4	94	94	Q -> H (in dbSNP:rs1059463).
Q9MYG4	101	101	D -> N (in dbSNP:rs1136688).
Q9MYG4	121	121	I -> M (in dbSNP:rs1136695).
Q9MYG4	129	129	S -> P (in dbSNP:rs1136700).
Q9MYG4	131	131	G -> W (in dbSNP:rs1136702).
Q9MYG4	133	133	F -> L (in dbSNP:rs1059488).
Q9MYG4	151	151	N -> K (in dbSNP:rs1059509).
Q9MYG4	166	166	I -> T (in dbSNP:rs1059516).
Q9MYG4	169	169	R -> H (in dbSNP:rs1059520).
Q9MYG4	176	176	E -> V (in allele A*03:02).
Q9MYG4	180	180	L -> Q (in allele A*03:02).
Q9MYG4	185	185	D -> E (in allele A*03:05; dbSNP:rs1059542).
Q9MYG4	186	186	G -> A (in allele A*03:06).
Q9MYG4	199	199	G -> R (in allele A*03:04).
Q9MYG4	205	205	R -> H (in dbSNP:rs17185861).
Q9TQP6	43	43	E -> K (in allele A*11:02).
Q9TQP6	89	89	R -> G (in dbSNP:rs1059459).
Q9TQP6	94	94	Q -> H (in dbSNP:rs1059463).
Q9TQP6	101	101	D -> N (in dbSNP:rs1136688).
Q9TQP6	131	131	G -> W (in dbSNP:rs1136702).
Q9TQP6	133	133	F -> L (in allele A*11:07; dbSNP:rs1059488).
Q9TQP6	151	151	N -> K (in dbSNP:rs1059509).
Q9TQP6	166	166	I -> T (in dbSNP:rs1059516).
Q9TQP6	168	168	K -> E (in allele A*11:05).
Q9TQP6	169	169	R -> H (in dbSNP:rs1059520).
Q9TQP6	175	175	H -> R (in allele A*11:03).
Q9TQP6	176	176	A -> E (in allele A*11:03).
Q9TQP6	187	187	R -> T (in allele A*11:04).
Q9TQP6	205	205	R -> H (in dbSNP:rs17185861).
Q9TQP6	345	345	T -> S (in allele A*11:05).
Q06402	136	136	M -> I.
Q96QU6	59	59	D -> N (in dbSNP:rs33952257).
Q96QU6	134	134	D -> E (in dbSNP:rs2018795).
Q96QU6	221	221	G -> E (in a breast cancer sample; somatic mutation; dbSNP:rs35514614).
Q96QU6	393	393	S -> L (in a breast cancer sample; somatic mutation).
Q96QU6	421	421	P -> L (in dbSNP:rs3107275).
Q4AC99	529	529	C -> R (in dbSNP:rs2074051).
P30447	31	31	Y -> C (in allele A*23:05).
P30447	151	151	K -> N (in allele A*23:03).
P30447	180	180	L -> W (in allele A*23:02).
P30447	190	191	DG -> EW (in allele A*23:04).
P30447	205	205	R -> H (in dbSNP:rs17185861).
P05534	5	5	A -> G (in allele A*2401).
P05534	27	27	H -> Q (in allele A*24:08; dbSNP:rs41541319).
P05534	86	86	E -> G (in allele A*24:08).
P05534	89	89	G -> R (in allele A*24:08 and allele A*24:29).
P05534	119	119	L -> V (in allele A*24:14).
P05534	121	121	M -> R (in allele A*24:14).
P05534	123	123	F -> Y (in allele A*24:14).
P05534	131	131	G -> W (in allele A*24:14).
P05534	180	180	Q -> L (in allele A*24:13).
P05534	180	180	Q -> W (in allele A*24:06; requires 2 nucleotide substitutions).
P05534	187	187	T -> R (in allele A*24:10).
P05534	190	191	DG -> EW (in allele A*24:03 and allele A*24:10).
P05534	205	205	R -> H (in dbSNP:rs17185861).
P05534	206	206	T -> A (in allele A*2401).
P18462	33	33	Y -> F (in allele A*25:03; dbSNP:rs2075684).
P18462	94	94	H -> Q (in allele A*25:02).
P18462	151	151	N -> K (in dbSNP:rs1059509).
P18462	166	166	I -> T (in dbSNP:rs1059516).
Q9BD19	60	60	F -> L (in allele A*26:15).
Q9BD19	86	87	RN -> GE (in allele A*26:07).
Q9BD19	89	89	R -> G (in dbSNP:rs1059459).
Q9BD19	90	90	N -> K (in allele A*26:07).
Q9BD19	94	94	H -> Q (in dbSNP:rs1059463).
Q9BD19	98	101	DRAN -> HRVD (in allele A*26:03).
Q9BD19	100	100	A -> E (in allele A*26:05).
Q9BD19	101	101	N -> D (in dbSNP:rs1136688).
Q9BD19	129	129	P -> S (in dbSNP:rs1136700).
Q9BD19	131	131	G -> W (in dbSNP:rs1136702).
Q9BD19	133	133	F -> L (in dbSNP:rs1059488).
Q9BD19	140	140	D -> N (in allele A*26:02).
Q9BD19	151	151	N -> K (in dbSNP:rs1059509).
Q9BD19	166	166	I -> T (in dbSNP:rs1059516).
Q9BD19	169	169	R -> H (in dbSNP:rs1059520).
Q9BD19	176	176	E -> V (in allele A*26:12).
Q9BD19	180	180	W -> Q (in allele A*26:08; requires 2 nucleotide substitutions).
Q9BD19	180	180	W -> R (in dbSNP:rs9260155).
Q9BD19	185	185	E -> D (in dbSNP:rs1059542).
Q9BD19	187	187	R -> L (in allele A*26:04).
Q9BD19	306	306	I -> V (in dbSNP:rs1136949).
P30512	90	90	N -> H (in allele A*29:04).
P30512	126	126	H -> D (in allele A*29:02, allele A*29:03 and allele A*29:04).
P30512	129	129	S -> P (in dbSNP:rs1136700).
P30512	131	131	G -> W (in dbSNP:rs1136702).
P30512	133	133	F -> L (in dbSNP:rs1059488).
P30512	151	151	N -> K (in dbSNP:rs1059509).
P30512	166	166	I -> T (in dbSNP:rs1059516).
P30512	190	191	EW -> DG (in allele A*29:03).
P16188	21	21	H -> Q (in allele A*30:02, allele A*30:04 and allele A*30:08).
P16188	33	33	S -> Y (in allele A*30:08).
P16188	55	55	T -> A (in allele A*30:06).
P16188	80	80	R -> G (in allele A*30:03).
P16188	86	86	Q -> E (in allele A*30:07).
P16188	89	90	RN -> GK (in allele A*30:07).
P16188	89	89	R -> G (in dbSNP:rs1059459).
P16188	94	94	Q -> H (in allele A*30:02, allele A*30:03, allele A*30:04, allele A*30:06 and allele A*30:07; dbSNP:rs1059463).
P16188	100	101	VD -> EN (in allele A*30:02, allele A*30:03, allele A*30:04, allele A*30:06 and allele A*30:07).
P16188	101	101	D -> N (in dbSNP:rs1136688).
P16188	121	121	I -> M (in dbSNP:rs1136695).
P16188	129	129	S -> P (in dbSNP:rs1136700).
P16188	131	131	G -> W (in dbSNP:rs1136702).
P16188	133	133	F -> L (in dbSNP:rs1059488).
P16188	151	151	N -> K (in dbSNP:rs1059509).
P16188	166	166	I -> T (in dbSNP:rs1059516).
P16188	175	176	RW -> HV (in allele A*30:04 and allele A*30:06).
P16188	176	176	W -> R (in allele A*30:02, allele A*30:03 and allele A*30:07).
P16188	180	180	L -> W (in allele A*30:04 and allele A*30:06).
P16188	205	205	R -> H (in dbSNP:rs17185861).
Q9UQU7	90	90	N -> K (in allele A*31:02).
Q9UQU7	114	114	A -> D (in allele A*31:03).
Q9UQU7	121	121	M -> I (in allele A*31:03 and allele A*31:04).
Q9UQU7	138	138	Q -> R (in allele A*31:03, allele A*31:04 and allele A*31:06).
Q9UQU7	151	151	N -> K (in dbSNP:rs1059509).
Q9UQU7	166	166	I -> T (in dbSNP:rs1059516).
Q9UQU7	190	191	EW -> DG (in allele A*31:05).
Q9UQU7	205	205	R -> H (in dbSNP:rs17185861).
P10314	89	90	RN -> GK (in allele A*32:05).
P10314	89	89	R -> G (in dbSNP:rs1059459).
P10314	101	101	S -> N (in allele A*32:03).
P10314	121	121	M -> I (in allele A*32:04).
P10314	129	129	P -> S (in allele A*32:04).
P10314	133	133	L -> F (in allele A*32:04).
P10314	138	138	Q -> R (in allele A*32:04).
P10314	151	151	N -> K (in dbSNP:rs1059509).
P10314	166	166	I -> T (in dbSNP:rs1059516).
P10314	168	168	Q -> K (in allele A*32:04).
P10314	175	175	R -> H (in allele A*32:02, allele A*32:04 and allele A*32:06).
P10314	176	176	V -> E (in allele A*32:04).
P10314	180	180	L -> Q (in allele A*32:02).
P10314	185	185	E -> D (in allele A*32:04).
P16190	41	41	R -> S (in allele A*3302).
P16190	151	151	N -> K (in dbSNP:rs1059509).
P16190	166	166	I -> T (in dbSNP:rs1059516).
P16190	195	195	H -> Y (in allele A*3302 and allele A*33:03).
P16190	217	218	AV -> PI (in allele A*3302).
P16190	358	358	M -> V (in allele A*3302).
P30453	3	3	I -> V (in allele A*34:02).
P30453	90	90	K -> N (in allele A*34:02).
P30453	101	101	D -> N (in dbSNP:rs1136688).
P30453	121	121	R -> I (in allele A*34:02).
P30453	129	129	P -> S (in allele A*34:02).
P30453	138	138	Q -> R (in allele A*34:02).
P30453	151	151	N -> K (in dbSNP:rs1059509).
P30453	166	166	I -> T (in dbSNP:rs1059516).
P30453	180	180	W -> L (in allele A*34:02).
P30453	312	312	L -> I (in allele A*34:02).
P30455	89	89	R -> G (in dbSNP:rs1059459).
P30455	131	131	G -> W (in dbSNP:rs1136702).
P30455	133	133	F -> L (in dbSNP:rs1059488).
P30455	151	151	N -> K (in dbSNP:rs1059509).
P30455	166	166	I -> T (in dbSNP:rs1059516).
P30455	169	169	R -> H (in dbSNP:rs1059520).
P30455	182	182	V -> A (in allele A*36:02).
P30455	185	185	E -> D (in allele A*36:02).
P30455	205	205	R -> H (in dbSNP:rs17185861).
P30456	151	151	N -> K (in dbSNP:rs1059509).
P30456	166	166	I -> T (in dbSNP:rs1059516).
P30457	28	28	S -> W (in allele A*66:02).
P30457	89	89	R -> G (in dbSNP:rs1059459).
P30457	101	101	D -> N (in dbSNP:rs1136688).
P30457	114	114	D -> A (in allele A*66:02).
P30457	151	151	N -> K (in dbSNP:rs1059509).
P30457	166	166	I -> T (in dbSNP:rs1059516).
P30457	187	187	R -> E (in allele A*66:02; requires 2 nucleotide substitutions).
P10315	36	36	V -> M (in allele A*68:02).
P10315	86	87	RN -> EE (in allele A*68:10).
P10315	89	89	R -> G (in dbSNP:rs1059459).
P10315	94	94	Q -> H (in allele A*68:03, allele A*68:04 and allele A*68:05; dbSNP:rs1059463).
P10315	97	97	T -> I (in allele A*68:04).
P10315	98	98	D -> H (in allele A*68:05).
P10315	101	101	D -> N (in dbSNP:rs1136688).
P10315	121	121	M -> R (in allele A*68:02).
P10315	129	129	S -> P (in allele A*68:02; dbSNP:rs1136700).
P10315	133	133	F -> L (in dbSNP:rs1059488).
P10315	138	138	R -> E (in allele A*68:06; requires 2 nucleotide substitutions).
P10315	138	138	R -> H (in allele A*68:02).
P10315	140	140	D -> H (in allele A*68:06 and allele A*68:07).
P10315	140	140	D -> V (in allele A*68:17).
P10315	140	140	D -> Y (in allele A*68:02).
P10315	175	175	H -> L (in allele A*68:16).
P10315	180	180	W -> L (in allele A*68:08).
P10315	180	180	W -> Q (in allele A*68:09; requires 2 nucleotide substitutions).
P10316	89	89	R -> G (in dbSNP:rs1059459).
P10316	94	94	Q -> H (in dbSNP:rs1059463).
P10316	101	101	D -> N (in dbSNP:rs1136688).
P30459	23	23	R -> W (in allele A*74:02; dbSNP:rs41564012).
P30459	86	86	Q -> G (in allele A*74:04; requires 2 nucleotide substitutions).
P30459	89	89	R -> G (in dbSNP:rs1059459).
P30459	90	90	N -> K (in allele A*74:04).
P30459	97	97	T -> A (in allele A*74:05).
P30459	103	103	G -> A (in allele A*74:03).
P30459	151	151	N -> K (in dbSNP:rs1059509).
P30459	166	166	I -> T (in dbSNP:rs1059516).
Q09160	121	121	I -> M (in dbSNP:rs1136695).
Q09160	129	129	S -> P (in dbSNP:rs1136700).
Q09160	131	131	G -> W (in dbSNP:rs1136702).
Q09160	133	133	F -> L (in dbSNP:rs1059488).
Q09160	151	151	N -> K (in dbSNP:rs1059509).
Q09160	166	166	I -> T (in dbSNP:rs1059516).
Q09160	169	169	R -> H (in dbSNP:rs1059520).
Q09160	205	205	R -> H (in dbSNP:rs17185861).
Q9TP95	4	4	M -> T (in dbSNP:rs1050458).
Q9TP95	9	9	V -> L (in dbSNP:rs1050462).
Q9TP95	17	17	L -> V (in dbSNP:rs1131165).
Q9TP95	35	35	S -> A (in dbSNP:rs1131170).
Q9TP95	36	36	V -> M (in dbSNP:rs1050486).
Q9TP95	48	48	S -> A (in dbSNP:rs713031).
Q9TP95	48	48	S -> P (in dbSNP:rs713031).
Q9TP95	48	48	S -> T (in dbSNP:rs713031).
Q9TP95	65	65	A -> T (in dbSNP:rs1050529).
Q9TP95	87	87	N -> D (in dbSNP:rs1050570).
Q9TP95	87	87	N -> K (in dbSNP:rs1065386).
Q9TP95	93	95	AQA -> TNT (in allele B*07:03).
Q9TP95	97	97	T -> A (in dbSNP:rs1050393).
Q9TP95	98	98	D -> Y (in dbSNP:rs1131215).
Q9TP95	101	101	S -> N (in dbSNP:rs1050388).
Q9TP95	118	119	TL -> II (in allele B*07:18).
Q9TP95	121	121	S -> R (in allele B*07:18).
Q9TP95	137	137	H -> Y (in dbSNP:rs1050379).
Q9TP95	138	138	D -> H (in dbSNP:rs709055).
Q9TP95	138	138	D -> N (in allele B*07:05 and allele B*07:06).
Q9TP95	155	155	R -> S (in dbSNP:rs1050654).
Q9TP95	180	180	R -> D (in allele B*07:04; requires 2 nucleotide substitutions).
Q9TP95	187	187	E -> A (in dbSNP:rs2308466).
Q9TP95	187	187	E -> G (in dbSNP:rs2308466).
Q9TP95	187	187	E -> K (in dbSNP:rs2523600).
Q9TP95	187	187	E -> L (in allele B*07:24; requires 2 nucleotide substitutions).
Q9TP95	187	187	E -> Q (in dbSNP:rs2523600).
Q9TP95	187	187	E -> V (in dbSNP:rs2308466).
Q9TP95	195	195	Y -> H (in dbSNP:rs1050696).
Q9TP95	306	306	V -> I (in allele B*07:05; dbSNP:rs1131500).
Q9TP95	329	329	A -> T (in dbSNP:rs1051488).
Q9TP95	349	349	C -> S (in dbSNP:rs2308655).
Q9TP95	349	349	C -> Y (in dbSNP:rs2308655).
Q9MY78	4	4	M -> T (in dbSNP:rs1050458).
Q9MY78	9	9	V -> L (in dbSNP:rs1050462).
Q9MY78	17	17	L -> V (in dbSNP:rs1131165).
Q9MY78	48	48	S -> A (in dbSNP:rs713031).
Q9MY78	48	48	S -> P (in dbSNP:rs713031).
Q9MY78	48	48	S -> T (in dbSNP:rs713031).
Q9MY78	65	65	A -> T (in dbSNP:rs1050529).
Q9MY78	87	87	N -> D (in allele B*08:10; dbSNP:rs1050570).
Q9MY78	87	87	N -> K (in dbSNP:rs1065386).
Q9MY78	91	91	F -> S (in allele B*08:04).
Q9MY78	97	97	T -> A (in dbSNP:rs1050393).
Q9MY78	98	98	D -> Y (in dbSNP:rs1131215).
Q9MY78	101	101	S -> N (in allele B*08:06; dbSNP:rs1050388).
Q9MY78	119	119	L -> W (in allele B*08:09).
Q9MY78	121	121	S -> R (in allele B*08:12).
Q9MY78	121	121	S -> T (in allele B*08:09).
Q9MY78	137	138	HN -> YH (in allele B*08:14).
Q9MY78	137	137	H -> Y (in dbSNP:rs1050379).
Q9MY78	138	138	N -> D (in allele B*08:07).
Q9MY78	140	140	Y -> D (in allele B*08:14).
Q9MY78	155	155	R -> S (in dbSNP:rs1050654).
Q9MY78	176	176	V -> E (in allele B*08:06).
Q9MY78	180	180	D -> L (in allele B*08:13; requires 2 nucleotide substitutions).
Q9MY78	180	180	D -> R (in allele B*08:06; requires 2 nucleotide substitutions).
Q9MY78	306	306	V -> I (in dbSNP:rs1131500).
Q9MY78	329	329	A -> T (in dbSNP:rs1051488).
Q9MY78	349	349	C -> S (in dbSNP:rs2308655).
Q9MY78	349	349	C -> Y (in dbSNP:rs2308655).
P30461	118	119	TW -> II (in allele B*13:01).
P30461	121	121	T -> R (in allele B*13:01).
P30461	138	138	N -> D (in allele B*13:04).
P30461	140	140	L -> S (in allele B*13:04).
P30461	169	169	L -> R (in allele B*13:03 and allele B*13:04; requires 2 nucleotide substitutions).
P30461	183	183	Y -> C (in allele B*13:08).
P30461	187	187	E -> L (in allele B*13:03 and allele B*13:04).
P30461	306	306	V -> I (in dbSNP:rs1131500).
P30461	329	329	A -> T (in dbSNP:rs1051488).
P30461	349	349	C -> S (in dbSNP:rs2308655).
P30461	349	349	C -> Y (in dbSNP:rs2308655).
P30462	4	4	M -> T (in dbSNP:rs1050458).
P30462	9	9	V -> L (in dbSNP:rs1050462).
P30462	17	17	L -> V (in dbSNP:rs1131165).
P30462	35	35	S -> A (in allele B*14:02 and allele B*14:03; dbSNP:rs1131170).
P30462	36	36	V -> M (in dbSNP:rs1050486).
P30462	48	48	S -> A (in dbSNP:rs713031).
P30462	48	48	S -> P (in dbSNP:rs713031).
P30462	48	48	S -> T (in dbSNP:rs713031).
P30462	65	65	A -> T (in dbSNP:rs1050529).
P30462	87	87	N -> D (in dbSNP:rs1050570).
P30462	87	87	N -> K (in dbSNP:rs1065386).
P30462	97	97	T -> A (in dbSNP:rs1050393).
P30462	98	98	D -> Y (in dbSNP:rs1131215).
P30462	180	180	L -> R (in allele B*14:03).
P30462	306	306	V -> I (in dbSNP:rs1131500).
P30462	329	329	A -> T (in dbSNP:rs1051488).
Q29982	48	48	A -> S (in allele B*15:03).
Q29982	69	70	MA -> EE (in allele B*15:03).
Q29982	87	87	E -> N (in allele B*15:02 and allele B*15:11; requires 2 nucleotide substitutions).
Q29982	91	91	S -> C (in allele B*15:66).
Q29982	91	91	S -> Y (in allele B*15:11).
Q29982	118	119	TL -> II (in allele B*15:02).
Q29982	119	119	L -> W (in allele B*15:04).
Q29982	121	121	R -> T (in allele B*15:04).
Q29982	137	137	H -> Y (in allele B*15:02).
Q29982	180	180	W -> L (in allele B*15:02 and allele B*15:03).
Q29982	190	191	EW -> DG (in allele B*15:19).
Q29982	274	274	P -> L (in allele B*15:19).
Q9TP37	87	87	N -> E (in allele B*18:12; requires 2 nucleotide substitutions).
Q9TP37	91	91	S -> F (in allele B*18:07).
Q9TP37	98	98	Y -> D (in allele B*18:03).
Q9TP37	121	121	R -> N (in allele B*18:02; requires 2 nucleotide substitutions).
Q9TP37	180	180	L -> R (in allele B*18:13).
Q9TP37	187	187	T -> E (in allele B*18:10; requires 2 nucleotide substitutions).
Q9TP37	195	195	H -> Y (in allele B*18:10 and allele B*18:11).
Q29846	65	65	A -> T (in dbSNP:rs1050529).
Q29846	83	83	Y -> H (in allele B*27:03).
Q29846	101	101	D -> N (in allele B*27:02).
Q29846	101	101	D -> S (in allele B*27:04, allele B*27:06 and allele B*27:08; requires 2 nucleotide substitutions).
Q29846	104	105	TL -> IA (in allele B*27:02).
Q29846	104	104	T -> N (in allele B*27:08).
Q29846	106	107	LR -> RG (in allele B*27:08).
Q29846	121	121	N -> S (in allele B*27:07).
Q29846	137	138	YH -> HN (in allele B*27:07).
Q29846	138	138	H -> D (in allele B*27:06).
Q29846	140	140	D -> H (in allele B*27:09).
Q29846	140	140	D -> Y (in allele B*27:06 and allele B*27:07).
Q29846	155	155	S -> R (in allele B*27:07).
Q29846	176	176	V -> E (in allele B*27:04 and allele B*27:06).
Q29846	235	235	A -> G (in allele B*27:04 and allele B*27:06).
Q29846	306	306	V -> I (in dbSNP:rs1131500).
Q29846	329	329	A -> T (in dbSNP:rs1051488).
Q29846	349	349	C -> S (in dbSNP:rs2308655).
Q29846	349	349	C -> Y (in dbSNP:rs2308655).
P30474	40	40	G -> V (in allele B*35:07).
P30474	48	48	A -> S (in allele B*35:25).
P30474	69	69	T -> E (in allele B*35:25; requires 2 nucleotide substitutions).
P30474	87	87	N -> E (in allele B*35:28; requires 2 nucleotide substitutions).
P30474	91	91	F -> S (in allele B*35:28).
P30474	98	98	Y -> D (in allele B*35:29).
P30474	107	107	G -> D (in allele B*35:36).
P30474	118	119	II -> TL (in allele B*35:05 and allele B*35:32).
P30474	121	121	R -> S (in allele B*35:05 and allele B*35:30).
P30474	127	127	L -> V (in allele B*35:32).
P30474	133	133	L -> F (in allele B*35:02).
P30474	138	138	D -> N (in allele B*35:02, allele B*35:04 and allele B*35:06).
P30474	140	140	S -> F (in allele B*35:06 and allele B*35:36).
P30474	140	140	S -> Y (in allele B*35:02, allele B*35:03 and allele B*35:04).
P30474	180	180	L -> R (in allele B*35:08).
P18463	35	35	S -> A (in dbSNP:rs1131170).
P18463	36	36	V -> M (in dbSNP:rs1050486).
P18463	48	48	S -> A (in dbSNP:rs713031).
P18463	48	48	S -> P (in dbSNP:rs713031).
P18463	48	48	S -> T (in dbSNP:rs713031).
P18463	65	65	A -> T (in dbSNP:rs1050529).
P18463	104	104	T -> N (in allele B*37:05).
P18463	106	107	LR -> RG (in allele B*37:05).
P18463	195	195	Y -> H (in allele B*37:04).
Q9BCM8	4	4	M -> T (in dbSNP:rs1050458).
Q9BCM8	9	9	V -> L (in dbSNP:rs1050462).
Q9BCM8	17	17	L -> V (in dbSNP:rs1131165).
Q9BCM8	35	35	S -> A (in allele B*38:05; dbSNP:rs1131170).
Q9BCM8	36	36	V -> M (in dbSNP:rs1050486).
Q9BCM8	48	48	S -> A (in dbSNP:rs713031).
Q9BCM8	48	48	S -> P (in dbSNP:rs713031).
Q9BCM8	48	48	S -> T (in dbSNP:rs713031).
Q9BCM8	65	65	A -> T (in dbSNP:rs1050529).
Q9BCM8	69	69	E -> T (in allele B*38:06 and allele B*38:07; requires 2 nucleotide substitutions).
Q9BCM8	82	82	E -> G (in allele B*38:07).
Q9BCM8	87	87	N -> D (in dbSNP:rs1050570).
Q9BCM8	87	87	N -> E (in allele B*38:03 and allele B*38:04; requires 2 nucleotide substitutions).
Q9BCM8	87	87	N -> K (in dbSNP:rs1065386).
Q9BCM8	91	91	C -> F (in allele B*38:06 and allele B*38:07).
Q9BCM8	91	91	C -> S (in allele B*38:03).
Q9BCM8	98	98	Y -> D (in allele B*38:03).
Q9BCM8	101	101	N -> S (in allele B*38:03).
Q9BCM8	104	104	I -> T (in allele B*38:02, allele B*38:03, allele B*38:04 and allele B*38:08).
Q9BCM8	187	187	T -> M (in allele B*38:08).
Q9BCM8	306	306	V -> I (in dbSNP:rs1131500).
Q9BCM8	329	329	A -> T (in dbSNP:rs1051488).
Q29847	4	4	M -> T (in dbSNP:rs1050458).
Q29847	9	9	V -> L (in dbSNP:rs1050462).
Q29847	17	17	L -> V (in dbSNP:rs1131165).
Q29847	33	33	Y -> D (in allele B*39:12).
Q29847	35	35	S -> A (in allele B*39:04 and allele B*39:12; dbSNP:rs1131170).
Q29847	36	36	V -> M (in allele B*39:04; dbSNP:rs1050486).
Q29847	48	48	S -> A (in dbSNP:rs713031).
Q29847	48	48	S -> P (in dbSNP:rs713031).
Q29847	48	48	S -> T (in dbSNP:rs713031).
Q29847	65	65	A -> T (in dbSNP:rs1050529).
Q29847	87	87	N -> D (in dbSNP:rs1050570).
Q29847	87	87	N -> E (in allele B*39:02, allele B*39:08 and allele B*39:23; requires 2 nucleotide substitutions).
Q29847	87	87	N -> K (in dbSNP:rs1065386).
Q29847	91	91	C -> S (in allele B*39:02, allele B*39:08 and allele B*39:23).
Q29847	91	91	C -> Y (in allele B*39:10).
Q29847	97	97	T -> A (in dbSNP:rs1050393).
Q29847	98	98	D -> Y (in allele B*39:05, allele B*39:07 and allele B*39:08; dbSNP:rs1131215).
Q29847	119	119	L -> W (in allele B*39:06).
Q29847	121	121	R -> S (in allele B*39:03 and allele B*39:24).
Q29847	121	121	R -> T (in allele B*39:06).
Q29847	122	122	M -> T (in allele B*39:24).
Q29847	123	123	Y -> S (in allele B*39:09).
Q29847	138	138	N -> D (in allele B*39:07).
Q29847	140	140	F -> S (in allele B*39:07).
Q29847	168	168	Q -> R (in allele B*39:23).
Q29847	180	180	L -> R (in allele B*39:08).
Q29847	306	306	V -> I (in dbSNP:rs1131500).
Q29847	329	329	A -> T (in dbSNP:rs1051488).
Q29855	9	9	L -> V (in allele B*40:01).
Q29855	14	15	WG -> SA (in allele B*40:01).
Q29855	17	17	V -> L (in allele B*40:01).
Q29855	35	36	SV -> AM (in allele B*40:01 and allele B*40:16).
Q29855	87	87	E -> N (in allele B*40:08; requires 2 nucleotide substitutions).
Q29855	91	91	S -> F (in allele B*40:08).
Q29855	101	101	S -> N (in dbSNP:rs1050388).
Q29855	118	119	TL -> II (in allele B*40:03).
Q29855	119	119	L -> W (in allele B*40:06).
Q29855	121	121	S -> R (in allele B*40:01 and allele B*40:03).
Q29855	121	121	S -> T (in allele B*40:06).
Q29855	127	127	V -> L (in allele B*40:03).
Q29855	137	137	H -> Y (in allele B*40:09; dbSNP:rs1050379).
Q29855	138	138	N -> D (in allele B*40:04 and allele B*40:09).
Q29855	140	140	Y -> N (in allele B*40:27).
Q29855	140	140	Y -> S (in allele B*40:04).
Q29855	155	155	R -> S (in dbSNP:rs1050654).
Q29855	167	167	T -> S (in allele B*40:01).
Q29855	171	171	W -> L (in allele B*40:01).
Q29855	176	176	V -> E (in allele B*40:05 and allele B*40:16).
Q29855	180	180	L -> R (in allele B*40:16).
Q29855	187	187	E -> L (in allele B*40:05; requires 2 nucleotide substitutions).
Q29855	201	202	ET -> DK (in allele B*40:01 and allele B*40:16).
Q29855	204	204	Q -> E (in allele B*40:01 and allele B*40:16).
Q29855	306	306	V -> I (in dbSNP:rs1131500).
Q29855	329	329	A -> T (in dbSNP:rs1051488).
Q29855	349	349	C -> S (in dbSNP:rs2308655).
Q29855	349	349	C -> Y (in dbSNP:rs2308655).
P30479	9	9	V -> L (in dbSNP:rs1050462).
P30479	17	17	L -> V (in dbSNP:rs1131165).
P30479	104	104	N -> K (in allele B*41:05).
P30479	119	119	W -> L (in allele B*41:02, allele B*41:03 and allele B*41:04).
P30479	121	121	R -> S (in allele B*41:02 and allele B*41:04).
P30479	127	127	V -> L (in allele B*41:04).
P30479	138	138	N -> D (in allele B*41:04).
P30479	155	155	R -> S (in dbSNP:rs1050654).
P30479	306	306	V -> I (in dbSNP:rs1131500).
P30479	329	329	A -> T (in dbSNP:rs1051488).
P30479	349	349	C -> S (in dbSNP:rs2308655).
P30479	349	349	C -> Y (in dbSNP:rs2308655).
P30480	4	4	M -> T (in dbSNP:rs1050458).
P30480	9	9	V -> L (in dbSNP:rs1050462).
P30480	17	17	L -> V (in dbSNP:rs1131165).
P30480	33	33	Y -> H (in allele B*42:02).
P30480	35	35	S -> A (in dbSNP:rs1131170).
P30480	36	36	V -> M (in dbSNP:rs1050486).
P30480	48	48	S -> A (in dbSNP:rs713031).
P30480	48	48	S -> P (in dbSNP:rs713031).
P30480	48	48	S -> T (in dbSNP:rs713031).
P30480	65	65	A -> T (in dbSNP:rs1050529).
P30480	87	87	N -> D (in dbSNP:rs1050570).
P30480	87	87	N -> K (in dbSNP:rs1065386).
P30480	97	97	T -> A (in dbSNP:rs1050393).
P30480	98	98	D -> Y (in dbSNP:rs1131215).
P30480	101	101	S -> N (in dbSNP:rs1050388).
P30480	137	137	H -> Y (in dbSNP:rs1050379).
P30480	155	155	R -> S (in dbSNP:rs1050654).
P30480	306	306	V -> I (in dbSNP:rs1131500).
P30480	329	329	A -> T (in dbSNP:rs1051488).
P30480	349	349	C -> S (in dbSNP:rs2308655).
P30480	349	349	C -> Y (in dbSNP:rs2308655).
Q9BCM7	65	65	T -> A (in allele B*44:07 and allele B*44:08).
Q9BCM7	69	70	KE -> MA (in allele B*44:08).
Q9BCM7	85	85	D -> E (in allele B*44:13).
Q9BCM7	87	87	E -> N (in allele B*44:12; requires 2 nucleotide substitutions).
Q9BCM7	101	101	N -> S (in allele B*44:09).
Q9BCM7	104	107	TALR -> NLRG (in allele B*44:09).
Q9BCM7	140	140	D -> Y (in allele B*44:05).
Q9BCM7	180	180	D -> L (in allele B*44:03, allele B*44:07 and allele B*44:13; requires 2 nucleotide substitutions).
Q9BCM7	180	180	D -> R (in allele B*44:04; requires 2 nucleotide substitutions).
Q9BCM7	187	187	L -> T (in allele B*44:04; requires 2 nucleotide substitutions).
Q9BCM7	306	306	V -> I (in dbSNP:rs1131500).
Q9BCM7	329	329	A -> T (in dbSNP:rs1051488).
Q9BCM7	349	349	C -> S (in dbSNP:rs2308655).
Q9BCM7	349	349	C -> Y (in dbSNP:rs2308655).
P30483	9	9	V -> L (in dbSNP:rs1050462).
P30483	17	17	L -> V (in dbSNP:rs1131165).
P30483	139	139	Q -> R (in allele B*45:03).
P30483	191	191	S -> W (in allele B*45:04).
P30484	98	98	D -> G (in allele B*46:02).
P30485	101	101	D -> S (in allele B*47:02 and allele B*47:03; requires 2 nucleotide substitutions).
P30485	104	104	T -> N (in allele B*47:02 and allele B*47:03).
P30485	106	107	LR -> RG (in allele B*47:02).
P30485	306	306	V -> I (in dbSNP:rs1131500).
P30485	329	329	A -> T (in dbSNP:rs1051488).
P30485	349	349	C -> S (in dbSNP:rs2308655).
P30485	349	349	C -> Y (in dbSNP:rs2308655).
P30486	4	4	M -> T (in dbSNP:rs1050458).
P30486	9	9	V -> L (in dbSNP:rs1050462).
P30486	17	17	L -> V (in dbSNP:rs1131165).
P30486	35	35	S -> A (in dbSNP:rs1131170).
P30486	36	36	V -> M (in dbSNP:rs1050486).
P30486	48	48	S -> A (in dbSNP:rs713031).
P30486	48	48	S -> P (in dbSNP:rs713031).
P30486	48	48	S -> T (in dbSNP:rs713031).
P30486	65	65	A -> T (in dbSNP:rs1050529).
P30486	101	101	S -> N (in dbSNP:rs1050388).
P30486	121	121	S -> R (in allele B*48:03).
P30486	137	137	H -> Y (in dbSNP:rs1050379).
P30486	155	155	R -> S (in dbSNP:rs1050654).
P30486	187	187	E -> A (in dbSNP:rs2308466).
P30486	187	187	E -> G (in dbSNP:rs2308466).
P30486	187	187	E -> K (in dbSNP:rs2523600).
P30486	187	187	E -> Q (in dbSNP:rs2523600).
P30486	187	187	E -> V (in dbSNP:rs2308466).
P30486	195	195	Y -> H (in dbSNP:rs1050696).
P30486	306	306	V -> I (in dbSNP:rs1131500).
P30486	329	329	A -> T (in dbSNP:rs1051488).
P30486	349	349	C -> S (in dbSNP:rs2308655).
P30486	349	349	C -> Y (in dbSNP:rs2308655).
P30487	9	9	V -> L (in dbSNP:rs1050462).
P30487	17	17	L -> V (in dbSNP:rs1131165).
P30487	48	48	T -> A (in allele B*49:03).
P30487	56	56	L -> Q (in allele B*49:03).
P30487	65	65	T -> A (in allele B*49:03).
P30487	69	69	K -> T (in allele B*49:03).
P30487	104	104	I -> T (in allele B*49:02).
P30488	9	9	V -> L (in dbSNP:rs1050462).
P30488	17	17	L -> V (in dbSNP:rs1131165).
P30488	127	127	L -> V (in allele B*50:04).
P30488	191	191	W -> S (in allele B*50:02).
P18464	118	121	TWQT -> IIQR (in allele B*51:04).
P18464	155	155	S -> R (in allele B*51:24).
P18464	176	176	E -> V (in allele B*51:08).
P18464	180	180	L -> D (in allele B*51:08; requires 2 nucleotide substitutions).
P18464	191	191	W -> G (in allele B*51:03).
P18464	195	195	H -> Y (in allele B*51:02).
P30490	69	70	TE -> MA (in allele B*52:02).
P30490	176	176	E -> V (in allele B*52:03).
P30490	195	195	H -> Y (in allele B*52:03).
Q9TP36	101	101	N -> D (in allele B*53:03).
Q9TP36	101	101	N -> S (in allele B*53:05).
Q9TP36	104	105	IA -> TL (in allele B*53:03).
Q9TP36	118	118	I -> T (in allele B*53:07).
Q9TP36	123	123	Y -> S (in allele B*53:07).
Q9TP36	127	127	L -> V (in allele B*53:07).
Q9TP36	137	138	HD -> YN (in allele B*53:07).
Q9TP36	140	140	S -> F (in allele B*53:04 and allele B*53:07).
Q9TP36	176	176	V -> E (in allele B*53:06).
Q9TP36	195	195	Y -> H (in allele B*53:02 and allele B*53:06).
P30492	33	33	Y -> H (in allele B*54:02).
P30492	35	36	AM -> SV (in allele B*54:02).
P30492	87	87	N -> D (in dbSNP:rs1050570).
P30492	87	87	N -> K (in dbSNP:rs1065386).
P30492	97	97	T -> A (in dbSNP:rs1050393).
P30492	98	98	D -> Y (in dbSNP:rs1131215).
P30492	101	101	S -> N (in dbSNP:rs1050388).
P30493	65	65	A -> T (in dbSNP:rs1050529).
P30493	82	82	E -> A (in allele B*55:05).
P30493	87	87	N -> D (in dbSNP:rs1050570).
P30493	87	87	N -> K (in dbSNP:rs1065386).
P30493	97	97	T -> A (in dbSNP:rs1050393).
P30493	98	98	D -> Y (in dbSNP:rs1131215).
P30493	101	101	S -> N (in allele B*55:12; dbSNP:rs1050388).
P30493	119	119	W -> L (in allele B*55:04 and allele B*55:08; requires 2 nucleotide substitutions).
P30493	121	121	T -> R (in allele B*55:08).
P30493	121	121	T -> S (in allele B*55:04).
P30493	127	127	L -> V (in allele B*55:04 and allele B*55:08).
P30493	140	140	L -> Y (in allele B*55:04 and allele B*55:08).
P30493	155	155	S -> R (in allele B*55:04 and allele B*55:08).
P30493	176	176	E -> V (in allele B*55:02, allele B*55:04, allele B*55:08 and allele B*55:12).
P30493	180	180	L -> R (in allele B*55:09).
P30493	187	187	T -> E (in allele B*55:09; requires 2 nucleotide substitutions).
P30493	187	187	T -> L (in allele B*55:08; requires 2 nucleotide substitutions).
P30495	65	65	A -> T (in dbSNP:rs1050529).
P30495	69	69	E -> T (in allele B*56:06; requires 2 nucleotide substitutions).
P30495	87	87	N -> D (in dbSNP:rs1050570).
P30495	87	87	N -> K (in dbSNP:rs1065386).
P30495	97	97	T -> A (in dbSNP:rs1050393).
P30495	98	98	D -> Y (in dbSNP:rs1131215).
P30495	101	101	S -> N (in allele B*56:07; dbSNP:rs1050388).
P30495	104	107	NLRG -> TALR (in allele B*56:07).
P30495	119	119	W -> L (in allele B*56:02, allele B*56:03 and allele B*56:04).
P30495	121	121	T -> R (in allele B*56:02, allele B*56:03 and allele B*56:04).
P30495	127	127	L -> V (in allele B*56:03, allele B*56:04, allele B*56:05 and allele B*56:06).
P30495	138	138	N -> D (in allele B*56:03).
P30495	140	140	L -> S (in allele B*56:03).
P30495	140	140	L -> Y (in allele B*56:05 and allele B*56:06; requires 2 nucleotide substitutions).
P30495	176	176	V -> E (in allele B*56:03, allele B*56:05 and allele B*56:06).
P30495	180	180	L -> W (in allele B*56:03).
P30495	195	195	Y -> H (in allele B*56:05 and allele B*56:06).
P18465	121	121	V -> R (in allele B*57:05; requires 2 nucleotide substitutions).
P18465	127	127	V -> L (in allele B*57:05).
P18465	137	137	H -> Y (in allele B*57:05).
P18465	138	138	D -> N (in allele B*57:02, allele B*57:03 and allele B*57:05).
P18465	140	140	S -> Y (in allele B*57:02, allele B*57:03 and allele B*57:05).
P18465	180	180	L -> R (in allele B*57:02 and allele B*57:05).
P18465	306	306	V -> I (in dbSNP:rs1131500).
P18465	329	329	A -> T (in dbSNP:rs1051488).
P18465	349	349	C -> S (in dbSNP:rs2308655).
P18465	349	349	C -> Y (in dbSNP:rs2308655).
P10319	86	86	G -> E (in allele B*58:04).
P10319	118	119	II -> TL (in allele B*58:02).
P10319	121	121	R -> W (in allele B*58:02).
P10319	171	171	W -> L (in allele B*58:05).
P10319	176	176	V -> A (in allele B*58:05).
P10319	187	187	L -> T (in allele B*58:05; requires 2 nucleotide substitutions).
Q29940	65	65	A -> T (in dbSNP:rs1050529).
Q29940	87	87	N -> D (in dbSNP:rs1050570).
Q29940	87	87	N -> K (in dbSNP:rs1065386).
Q29836	4	4	M -> T (in dbSNP:rs1050458).
Q29836	9	9	V -> L (in dbSNP:rs1050462).
Q29836	17	17	L -> V (in dbSNP:rs1131165).
Q29836	35	35	S -> A (in dbSNP:rs1131170).
Q29836	36	36	V -> M (in dbSNP:rs1050486).
Q29836	48	48	S -> A (in dbSNP:rs713031).
Q29836	48	48	S -> P (in dbSNP:rs713031).
Q29836	48	48	S -> T (in dbSNP:rs713031).
Q29836	65	65	A -> T (in dbSNP:rs1050529).
Q29836	69	69	E -> G (in allele B*67:02).
Q29836	76	76	I -> V (in allele B*67:02).
Q29836	87	87	N -> D (in dbSNP:rs1050570).
Q29836	87	87	N -> E (in allele B*67:02; requires 2 nucleotide substitutions).
Q29836	87	87	N -> K (in dbSNP:rs1065386).
Q29836	90	90	I -> K (in allele B*67:02).
Q29836	93	93	A -> R (in allele B*67:02; requires 2 nucleotide substitutions).
Q29836	97	97	T -> A (in allele B*67:02; dbSNP:rs1050393).
Q29836	98	98	D -> Y (in dbSNP:rs1131215).
Q29836	100	100	E -> V (in allele B*67:02).
Q29836	101	101	S -> N (in dbSNP:rs1050388).
Q29836	306	306	V -> I (in dbSNP:rs1131500).
Q29836	329	329	A -> T (in dbSNP:rs1051488).
Q31612	4	4	M -> T (in dbSNP:rs1050458).
Q31612	9	9	V -> L (in dbSNP:rs1050462).
Q31612	17	17	L -> V (in dbSNP:rs1131165).
Q31612	65	65	A -> T (in dbSNP:rs1050529).
Q31612	87	87	N -> D (in dbSNP:rs1050570).
Q31612	87	87	N -> K (in dbSNP:rs1065386).
Q31612	155	155	R -> S (in dbSNP:rs1050654).
P30498	91	91	F -> C (in allele B*78:03).
P30498	97	97	T -> A (in dbSNP:rs1050393).
P30498	98	98	D -> Y (in allele B*78:02).
Q31610	4	4	M -> T (in dbSNP:rs1050458).
Q31610	9	9	V -> L (in dbSNP:rs1050462).
Q31610	35	35	S -> A (in dbSNP:rs1131170).
Q31610	36	36	V -> M (in dbSNP:rs1050486).
Q31610	48	48	S -> A (in dbSNP:rs713031).
Q31610	48	48	S -> P (in dbSNP:rs713031).
Q31610	48	48	S -> T (in dbSNP:rs713031).
Q31610	65	65	A -> T (in dbSNP:rs1050529).
Q31610	87	87	N -> D (in dbSNP:rs1050570).
Q31610	87	87	N -> K (in dbSNP:rs1065386).
Q31610	97	97	T -> A (in dbSNP:rs1050393).
Q31610	98	98	D -> Y (in dbSNP:rs1131215).
Q31610	101	101	S -> N (in dbSNP:rs1050388).
Q31610	137	137	H -> Y (in dbSNP:rs1050379).
Q31610	155	155	R -> S (in dbSNP:rs1050654).
Q31610	187	187	E -> A (in dbSNP:rs2308466).
Q31610	187	187	E -> G (in dbSNP:rs2308466).
Q31610	187	187	E -> K (in dbSNP:rs2523600).
Q31610	187	187	E -> Q (in dbSNP:rs2523600).
Q31610	187	187	E -> V (in dbSNP:rs2308466).
Q31610	195	195	Y -> H (in dbSNP:rs1050696).
Q31610	306	306	V -> I (in dbSNP:rs1131500).
Q31610	329	329	A -> T (in dbSNP:rs1051488).
Q31610	349	349	C -> S (in dbSNP:rs2308655).
Q31610	349	349	C -> Y (in dbSNP:rs2308655).
Q29718	48	48	S -> A (in dbSNP:rs713031).
Q29718	48	48	S -> P (in dbSNP:rs713031).
Q29718	48	48	S -> T (in dbSNP:rs713031).
Q29718	65	65	A -> T (in dbSNP:rs1050529).
Q29718	87	87	N -> D (in dbSNP:rs1050570).
Q29718	87	87	N -> K (in dbSNP:rs1065386).
Q29718	97	97	T -> A (in dbSNP:rs1050393).
Q29718	98	98	D -> Y (in dbSNP:rs1131215).
Q29718	101	101	S -> N (in dbSNP:rs1050388).
Q29718	186	186	D -> G (in allele B*82:02).
P30499	5	5	E -> A (in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04).
P30499	43	43	E -> K (in dbSNP:rs1050438).
P30499	48	48	S -> A (in dbSNP:rs707911).
P30499	48	48	S -> P (in dbSNP:rs707911).
P30499	48	48	S -> T (in dbSNP:rs707911).
P30499	73	73	A -> E (in dbSNP:rs1050409).
P30499	76	76	V -> M (in dbSNP:rs1065382).
P30499	90	90	K -> N (in dbSNP:rs28626310).
P30499	92	92	N -> K (in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04).
P30499	138	138	D -> N (in allele Cw*01:03).
P30499	140	140	Y -> F (in allele Cw*01:03).
P30499	140	140	Y -> S (in allele Cw*01:04).
P30499	179	179	E -> Q (in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04).
P30499	180	180	R -> W (in allele Cw*01:04).
P30499	201	201	E -> K (in dbSNP:rs1131103).
P30499	202	202	S -> T (in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04).
P30499	243	243	W -> R (in allele Cw*01:04).
P30499	272	272	M -> V (in allele Cw*01:04).
P30499	328	328	V -> M (in allele Cw*01:04).
P30499	364	364	S -> C (in allele Cw*01:02, allele Cw*01:03 and allele Cw*01:04).
P30501	5	5	E -> A (in allele Cw*02:02).
P30501	10	10	I -> L (in allele Cw*02:02).
P30501	73	74	GR -> AP (in allele Cw*02:02).
P30501	92	92	N -> K (in allele Cw*02:02).
P30501	137	137	Y -> H (in dbSNP:rs2308574).
P30501	179	179	E -> Q (in allele Cw*02:02).
P30501	202	202	K -> T (in allele Cw*02:02).
P30501	272	272	V -> M (in dbSNP:rs1050276).
P30501	364	364	S -> C (in allele Cw*02:02).
Q29993	73	73	A -> E (in dbSNP:rs1050409).
Q29993	76	76	V -> M (in dbSNP:rs1065382).
Q29993	90	90	K -> N (in allele Cw*03:08; dbSNP:rs28626310).
Q29993	101	101	S -> N (in allele Cw*03:07).
Q29993	104	104	N -> K (in allele Cw*03:07).
Q29993	115	115	G -> R (in allele Cw*03:03 and allele Cw*03:13).
Q29993	118	118	I -> T (in allele Cw*03:05 and allele Cw*03:13).
Q29993	119	119	I -> L (in allele Cw*03:02, allele Cw*03:05 and allele Cw*03:13).
Q29993	121	121	R -> S (in allele Cw*03:05).
Q29993	127	127	V -> L (in allele Cw*03:09).
Q29993	138	138	D -> V (in allele Cw*03:06).
Q29993	140	140	Y -> S (in allele Cw*03:02).
Q29993	272	272	V -> M (in dbSNP:rs1050276).
P30504	33	33	S -> Y (in allele Cw*04:03 and allele Cw*04:06).
P30504	35	35	S -> A (in allele Cw*04:03 and allele Cw*04:06).
P30504	38	38	W -> R (in allele Cw*04:03 and allele Cw*04:06).
P30504	40	40	G -> S (in allele Cw*04:03 and allele Cw*04:06).
P30504	45	45	R -> H (in allele Cw*04:03 and allele Cw*04:06).
P30504	52	52	V -> L (in allele Cw*04:05).
P30504	73	73	E -> A (in allele Cw*04:03 and allele Cw*04:06).
P30504	76	76	V -> M (in dbSNP:rs1065382).
P30504	90	90	K -> N (in dbSNP:rs28626310).
P30504	97	97	A -> T (in dbSNP:rs41543814).
P30504	180	180	R -> L (in allele Cw*04:04 and allele Cw*04:06).
P30504	182	182	A -> V (in dbSNP:rs1059539).
P30504	201	201	E -> K (in dbSNP:rs1131103).
P30504	272	272	V -> M (in dbSNP:rs1050276).
P30504	327	327	M -> V (in allele Cw*04:03 and allele Cw*04:06).
Q9TNN7	73	73	A -> E (in dbSNP:rs1050409).
Q9TNN7	76	76	V -> M (in dbSNP:rs1065382).
Q9TNN7	90	90	K -> N (in dbSNP:rs28626310).
Q9TNN7	138	138	N -> D (in allele Cw*05:04).
Q9TNN7	140	140	F -> S (in allele Cw*05:04).
Q9TNN7	201	201	K -> E (in allele Cw*0502).
Q9TNN7	207	208	EH -> DP (in allele Cw*05:03).
Q9TNN7	218	218	V -> I (in allele Cw*05:03).
Q9TNN7	223	223	A -> V (in allele Cw*05:03).
Q9TNN7	272	272	V -> M (in dbSNP:rs1050276).
Q29963	33	33	D -> Y (in allele Cw*06:03).
Q29963	43	43	E -> K (in dbSNP:rs1050438).
Q29963	48	48	S -> A (in dbSNP:rs707911).
Q29963	48	48	S -> P (in dbSNP:rs707911).
Q29963	48	48	S -> T (in dbSNP:rs707911).
Q29963	73	73	A -> E (in dbSNP:rs1050409).
Q29963	76	76	V -> M (in dbSNP:rs1065382).
Q29963	90	90	K -> N (in dbSNP:rs28626310).
Q29963	97	97	A -> T (in dbSNP:rs41543814).
Q29963	137	137	Y -> H (in dbSNP:rs2308574).
Q29963	180	180	W -> L (in allele Cw*06:04).
Q29963	182	182	A -> V (in dbSNP:rs1059539).
Q29963	201	201	E -> K (in dbSNP:rs1131103).
Q29963	272	272	V -> M (in dbSNP:rs1050276).
Q95603	10	10	L -> I (in dbSNP:rs2308527).
Q95603	43	43	E -> K (in dbSNP:rs1050438).
Q95603	48	48	S -> A (in dbSNP:rs707911).
Q95603	48	48	S -> P (in dbSNP:rs707911).
Q95603	48	48	S -> T (in dbSNP:rs707911).
Q95603	73	73	A -> E (in dbSNP:rs1050409).
Q95603	76	76	V -> M (in dbSNP:rs1065382).
Q95603	90	90	K -> N (in allele Cw*07:01; dbSNP:rs28626310).
Q95603	97	97	A -> T (in dbSNP:rs41543814).
Q95603	101	101	S -> N (in allele Cw*07:09; dbSNP:rs2308557).
Q95603	104	104	N -> K (in allele Cw*07:09; dbSNP:rs17408553).
Q95603	119	119	L -> F (in allele Cw*07:04 and allele Cw*07:11).
Q95603	123	123	S -> C (in dbSNP:rs1131115).
Q95603	123	123	S -> F (in dbSNP:rs1131115).
Q95603	123	123	S -> Y (in allele Cw*07:01; dbSNP:rs1131115).
Q95603	137	137	Y -> H (in dbSNP:rs2308574).
Q95603	140	140	S -> F (in allele Cw*07:04 and allele Cw*07:11).
Q95603	171	171	L -> W (in allele Cw*07:03; dbSNP:rs1050366).
Q95603	180	180	L -> D (in allele Cw*07:04 and allele Cw*07:11; requires 2 nucleotide substitutions).
Q95603	182	182	A -> V (in dbSNP:rs1059539).
Q95603	187	187	T -> L (in allele Cw*07:03; requires 2 nucleotide substitutions).
Q95603	201	201	E -> K (in allele Cw*07:04 and allele Cw0711; dbSNP:rs1131103).
Q95603	208	208	P -> H (in dbSNP:rs1131096).
Q95603	208	208	P -> R (in dbSNP:rs1131096).
Q95603	272	272	V -> M (in dbSNP:rs1050276).
Q95603	328	328	V -> I (in dbSNP:rs1050118).
Q95603	330	330	A -> V (in dbSNP:rs1050105).
Q95603	331	331	M -> K (in allele Cw*07:06).
Q95603	331	331	M -> V (in dbSNP:rs1130935).
Q95603	348	348	A -> V (in allele Cw*07:06).
Q95603	350	350	C -> S (in dbSNP:rs35708511).
Q95603	363	363	T -> A (in allele Cw*07:11).
P30505	73	73	A -> E (in dbSNP:rs1050409).
P30505	76	76	V -> M (in dbSNP:rs1065382).
P30505	90	90	K -> N (in dbSNP:rs28626310).
P30505	162	162	T -> K (in allele Cw*08:02).
P30505	176	176	T -> E (in allele Cw*08:02; requires 2 nucleotide substitutions).
P30505	180	180	L -> R (in allele Cw*08:02).
P30505	199	199	G -> R (in allele Cw*08:03).
P30505	272	272	V -> M (in dbSNP:rs1050276).
Q9UM32	73	73	A -> E (in dbSNP:rs1050409).
Q9UM32	76	76	V -> M (in dbSNP:rs1065382).
Q9UM32	90	90	K -> N (in allele Cw*12:08; dbSNP:rs28626310).
Q9UM32	97	97	A -> T (in allele Cw*12:05 and allele Cw*12:09; dbSNP:rs41543814).
Q9UM32	101	101	S -> G (in allele Cw*12:07).
Q9UM32	101	101	S -> N (in allele Cw*12:04, allele Cw*12:05 and allele Cw*12:09; dbSNP:rs2308557).
Q9UM32	104	104	N -> K (in allele Cw*12:04, allele Cw*12:05 and allele Cw*12:09; dbSNP:rs17408553).
Q9UM32	121	121	R -> W (in allele Cw*12:03, allele Cw*12:04, allele Cw*12:05, allele Cw*12:06, allele Cw*12:07 and allele Cw*12:09).
Q9UM32	137	137	Y -> H (in dbSNP:rs2308574).
Q9UM32	144	144	G -> V (in allele Cw*12:06).
Q9UM32	180	180	W -> R (in allele Cw*12:09).
Q9UM32	182	182	A -> V (in dbSNP:rs1059539).
Q9UM32	201	201	E -> K (in dbSNP:rs1131103).
Q9UM32	208	208	H -> P.
Q9UM32	272	272	V -> M (in dbSNP:rs1050276).
Q9UM32	363	363	A -> T.
P30510	45	45	R -> H (in allele Cw*14:03).
P30510	73	73	A -> E (in dbSNP:rs1050409).
P30510	76	76	V -> M (in dbSNP:rs1065382).
P30510	90	90	K -> N (in dbSNP:rs28626310).
P30510	97	97	T -> A (in allele Cw*14:04).
P30510	101	101	S -> N (in allele Cw*14:03).
P30510	137	137	Y -> H (in dbSNP:rs2308574).
P30510	182	182	A -> V (in dbSNP:rs1059539).
P30510	201	201	E -> K (in dbSNP:rs1131103).
P30510	272	272	V -> M (in dbSNP:rs1050276).
Q07000	40	40	G -> S (in allele Cw*15:11).
Q07000	45	45	H -> R (in allele Cw*15:10).
Q07000	73	73	A -> E (in dbSNP:rs1050409).
Q07000	76	76	V -> M (in dbSNP:rs1065382).
Q07000	90	90	N -> K (in allele Cw*15:11).
Q07000	97	97	T -> A (in allele Cw*15:03).
Q07000	137	137	H -> Y (in allele Cw*15:04).
Q07000	140	140	L -> F (in allele Cw*15:05).
Q07000	140	140	L -> S (in allele Cw*15:04).
Q07000	182	182	A -> V (in dbSNP:rs1059539).
Q07000	201	201	E -> K (in dbSNP:rs1131103).
Q07000	272	272	V -> M (in dbSNP:rs1050276).
Q29960	73	73	A -> E (in dbSNP:rs1050409).
Q29960	76	76	V -> M (in dbSNP:rs1065382).
Q29960	90	90	K -> N (in dbSNP:rs28626310).
Q29960	101	101	S -> N (in allele Cw*16:02).
Q29960	104	104	N -> K (in allele Cw*16:02).
Q29960	137	137	Y -> H (in dbSNP:rs2308574).
Q29960	153	153	H -> D (in allele Cw*16:02 and allele Cw*16:04).
Q29960	157	157	C -> W (in allele Cw*16:02 and allele Cw*16:04).
Q29960	180	180	Q -> W (in allele Cw*16:04; requires 2 nucleotide substitutions).
Q29960	182	182	A -> V (in dbSNP:rs1059539).
Q29960	201	201	E -> K (in dbSNP:rs1131103).
Q29960	272	272	V -> M (in dbSNP:rs1050276).
Q95604	7	8	QA -> RT (in allele Cw*17:02).
Q95604	10	10	L -> I (in allele Cw*17:02).
Q95604	24	24	A -> T (in allele Cw*17:03).
Q95604	73	73	A -> E (in dbSNP:rs1050409).
Q95604	76	76	V -> M (in dbSNP:rs1065382).
Q95604	90	90	K -> N (in dbSNP:rs28626310).
Q95604	97	97	A -> T (in dbSNP:rs41543814).
Q95604	272	272	V -> M (in dbSNP:rs1050276).
Q29865	10	10	L -> I (in dbSNP:rs2308527).
Q29865	43	43	E -> K (in dbSNP:rs1050438).
Q29865	48	48	S -> A (in dbSNP:rs707911).
Q29865	48	48	S -> P (in dbSNP:rs707911).
Q29865	48	48	S -> T (in dbSNP:rs707911).
Q29865	73	73	A -> E (in dbSNP:rs1050409).
Q29865	76	76	V -> M (in dbSNP:rs1065382).
Q29865	90	90	K -> N (in dbSNP:rs28626310).
Q29865	97	97	A -> T (in dbSNP:rs41543814).
Q29865	182	182	A -> V (in dbSNP:rs1059539).
Q29865	201	201	E -> K (in dbSNP:rs1131103).
Q29865	272	272	V -> M (in dbSNP:rs1050276).
Q29865	319	319	V -> A (in allele Cw*18:02).
Q13362	515	515	A -> P (in dbSNP:rs3742424).
P30153	87	87	H -> R (in lung).
P30154	8	8	G -> R (in a lung cancer patient).
P30154	15	15	G -> A (in a colorectal cancer patient).
P30154	65	65	P -> S (in a lung cancer patient).
P30154	90	90	G -> D (in a lung cancer patient; dbSNP:rs1805076).
P30154	101	101	L -> P (in a colon adenocarcinoma).
P30154	343	343	K -> E (in a lung cancer patient).
P30154	365	365	S -> P (in a colorectal cancer patient).
P30154	448	448	V -> A (in a colon adenocarcinoma).
P30154	498	498	V -> E (in a colorectal cancer patient).
P30154	499	499	L -> I (in a colorectal cancer patient).
P30154	500	500	V -> G (in a colorectal cancer patient).
P30154	504	504	D -> G (in a lung cancer patient).
P30154	545	545	V -> A (in a colon adenocarcinoma).
P36876	60	60	E -> ESFKVHAALREASNLSMQ.
Q00005	36	36	G -> V (in dbSNP:rs11547494).
Q66LE6	358	358	G -> S (in dbSNP:rs34473884).
Q5Y7E9	5	5	K -> R (in dbSNP:rs9270305).
Q5Y7E9	13	13	T -> A (in dbSNP:rs1059553).
Q5Y7E9	29	29	A -> S (in dbSNP:rs9270299).
Q5Y7E9	33	33	R -> K (in dbSNP:rs34716432).
Q5Y7E9	33	33	R -> Q (in dbSNP:rs34716432).
Q5Y7E9	39	39	Q -> E (in allele DRB1*01:07).
Q5Y7E9	66	66	S -> Y (in dbSNP:rs16822820).
Q5Y7E9	74	74	G -> R (in allele DRB1*01:05).
Q5Y7E9	76	76	Y -> F (in dbSNP:rs1060346).
Q5Y7E9	89	89	Y -> S (in dbSNP:rs36074728).
Q5Y7E9	96	96	L -> I (in allele DRB1*01:03).
Q5Y7E9	99	99	Q -> D (in allele DRB1*01:03; requires 2 nucleotide substitutions).
Q5Y7E9	99	99	Q -> E (in dbSNP:rs17881965).
Q5Y7E9	99	99	Q -> H (in dbSNP:rs17879599).
Q5Y7E9	100	100	R -> A (in allele DRB1*01:06; requires 2 nucleotide substitutions).
Q5Y7E9	100	100	R -> E (in allele DRB1*01:03; requires 2 nucleotide substitutions).
Q5Y7E9	102	102	A -> G (in dbSNP:rs17878857).
Q5Y7E9	103	103	A -> E (in dbSNP:rs16822805).
Q5Y7E9	106	106	T -> N (in allele DRB1*01:04; dbSNP:rs16822752).
Q5Y7E9	107	107	Y -> H (in dbSNP:rs16822512).
Q5Y7E9	114	114	V -> A (in allele DRB1*01:02; dbSNP:rs17424145).
Q5Y7E9	115	115	G -> V (in allele DRB1*01:02, allele DRB1*01:04 and allele DRB1*01:06; dbSNP:rs2230810).
Q5Y7E9	164	164	G -> D (in dbSNP:rs1059633).
Q5Y7E9	169	169	A -> T (in dbSNP:rs2308768).
Q5Y7E9	171	171	V -> M (in dbSNP:rs701829).
Q5Y7E9	178	178	Q -> H (in dbSNP:rs701830).
Q5Y7E9	195	195	R -> Q (in dbSNP:rs3205588).
Q5Y7E9	210	210	T -> I (in dbSNP:rs17423930).
Q5Y7E9	236	236	V -> M (in dbSNP:rs2230816).
Q5Y7E9	253	253	Q -> E (in allele DRB1*01:02).
Q5Y7E9	262	262	T -> R (in dbSNP:rs9269744).
P01912	55	55	Y -> F (in dbSNP:rs16822516).
P01912	106	106	N -> T (in dbSNP:rs9269941).
P01912	164	164	G -> S (in dbSNP:rs1059633).
P01912	169	169	T -> A (in dbSNP:rs2308768).
P01912	236	236	V -> M (in dbSNP:rs2230816).
Q9MY13	5	5	K -> R (in dbSNP:rs9270305).
Q9MY13	86	86	D -> S (in allele DRB1*04:11; requires 2 nucleotide substitutions).
Q9MY13	96	96	L -> I (in allele DRB1*04:02).
Q9MY13	99	99	Q -> D (in allele DRB1*04:02; requires 2 nucleotide substitutions).
Q9MY13	100	100	K -> E (in allele DRB1*04:02).
Q9MY13	100	100	K -> R (in allele DRB1*04:03, allele DRB1*04:04 and allele DRB1*04:11).
Q9MY13	103	103	A -> E (in allele DRB1*04:03 and allele DRB1*04:11).
Q9MY13	115	115	G -> V (in allele DRB1*04:02, allele DRB1*04:03, allele DRB1*04:04 and allele DRB1*04:11).
Q9MY13	236	236	V -> M (in dbSNP:rs2230816).
Q9MY13	262	262	T -> R (in dbSNP:rs9269744).
P13761	5	5	K -> R (in dbSNP:rs9270305).
P13761	58	58	R -> S (in allele DRB1*07:03).
P13761	106	106	T -> N (in allele DRB1*07:04).
P13761	107	107	V -> Y (in allele DRB1*07:04; requires 2 nucleotide substitutions).
P13761	236	236	V -> M (in dbSNP:rs2230816).
P13761	262	262	T -> R (in dbSNP:rs9269744).
Q9BCP2	86	86	S -> D (in allele DRB1*08:02 and allele DRB1*08:04; requires 2 nucleotide substitutions).
Q9BCP2	96	96	F -> I (in allele DRB1*08:03).
Q9BCP2	115	115	G -> V (in allele DRB1*08:04).
Q9BCP2	236	236	V -> M (in dbSNP:rs2230816).
Q9BCP2	262	262	T -> R (in dbSNP:rs9269744).
Q9TQE0	5	5	K -> R (in dbSNP:rs9270305).
Q9TQE0	236	236	V -> M (in dbSNP:rs2230816).
Q9TQE0	262	262	T -> R (in dbSNP:rs9269744).
Q30167	236	236	V -> M (in dbSNP:rs2230816).
Q30167	262	262	T -> R (in dbSNP:rs9269744).
P20039	55	55	F -> Y (in dbSNP:rs16822516).
P20039	100	100	R -> E (in allele DRB1*11:03; requires 2 nucleotide substitutions).
P20039	115	115	G -> V (in allele DRB1*11:03 and allele DRB1*11:04).
P20039	236	236	V -> M (in dbSNP:rs2230816).
Q861H8	5	5	R -> K (in allele DRB1*12:17).
Q861H8	13	13	A -> T (in allele DRB1*12:17).
Q861H8	14	14	V -> A (in allele DRB1*12:17).
Q861H8	14	14	V -> I (in allele DRB1*12:10).
Q861H8	54	54	R -> L (in allele DRB1*12:13).
Q861H8	55	55	L -> F (in allele DRB1*12:08).
Q861H8	66	66	L -> F (in allele DRB1*12:05, allele DRB1*12:14 and allele DRB1*12:15).
Q861H8	67	67	L -> V (in allele DRB1*12:14).
Q861H8	76	76	F -> L (in allele DRB1*12:11).
Q861H8	86	86	V -> D (in allele DRB1*12:04 and allele DRB1*12:09).
Q861H8	87	87	A -> E (in allele DRB1*12:04).
Q861H8	88	88	E -> Q (in allele DRB1*12:18).
Q861H8	89	89	S -> Y (in allele DRB1*12:04 and allele DRB1*12:09).
Q861H8	96	96	I -> F (in allele DRB1*12:02, allele DRB1*12:13, allele DRB1*12:15, allele DRB1*12:16, allele DRB1*12:18 and allele DRB1*12:19).
Q861H8	96	96	I -> L (in allele DRB1*12:12).
Q861H8	98	98	E -> G (in allele DRB1*12:07).
Q861H8	114	114	A -> V (in allele DRB1*12:03, allele DRB1*12:16 and allele DRB1*12:19).
Q861H8	115	115	V -> G (in allele DRB1*12:16).
Q861H8	125	125	H -> E (in allele DRB1*12:17; requires 2 nucleotide substitutions).
Q861H8	169	169	T -> A (in allele DRB1*12:17).
Q861H8	178	178	H -> Q (in allele DRB1*12:06 and allele DRB1*12:17).
Q861H8	262	262	R -> T (in allele DRB1*12:17; dbSNP:rs9269744).
Q9MY56	39	39	Y -> L (in allele DRB1*13:67; requires 2 nucleotide substitutions).
Q9MY56	40	40	S -> L (in allele DRB1*13:67).
Q9MY56	41	41	T -> K (in allele DRB1*13:67).
Q9MY56	42	42	S -> G (in allele DRB1*13:17).
Q9MY56	45	45	H -> Q (in allele DRB1*13:72).
Q9MY56	45	45	H -> Y (in allele DRB1*13:17).
Q9MY56	54	54	R -> L (in allele DRB1*13:73).
Q9MY56	55	55	F -> Y (in allele DRB1*13:27, allele DRB1*13:41 and allele DRB1*13:71).
Q9MY56	56	56	L -> Q (in allele DRB1*13:59).
Q9MY56	57	57	D -> E (in allele DRB1*13:15, allele DRB1*13:19, allele DRB1*13:26, allele DRB1*13:53, allele DRB1*13:57, allele DRB1*13:85 and allele DRB1*13:86).
Q9MY56	61	61	H -> Y (in allele DRB1*13:03, allele DRB1*13:07, allele DRB1*13:04, allele DRB1*13:11, allele DRB1*13:12, allele DRB1*13:13, allele DRB1*13:14, allele DRB1*13:17, allele DRB1*13:21, allele DRB1*13:22, allele DRB1*13:23, allele DRB1*13:24, allele DRB1*13:25, allele DRB1*13:30, allele DRB1*13:33, allele DRB1*13:37, allele DRB1*13:38, allele DRB1*13:44, allele DRB1*13:45, allele DRB1*13:46, allele DRB1*13:47, allele DRB1*13:48, allele DRB1*13:49, allele DRB1*13:50, allele DRB1*13:54, allele DRB1*13:55, allele DRB1*13:58, allele DRB1*13:60, allele DRB1*13:62, allele DRB1*13:66, allele DRB1*13:69, allele DRB1*13:70, allele DRB1*13:75, allele DRB1*13:81, allele DRB1*13:82, allele DRB1*13:86 and allele DRB1*13:88).
Q9MY56	66	66	N -> D (in allele DRB1*13:62 and allele DRB1*13:68).
Q9MY56	66	66	N -> F (in allele DRB1*13:08, allele DRB1*13:19, allele DRB1*13:57, allele DRB1*13:64, allele DRB1*13:72, allele DRB1*13:76 and allele DRB1*13:83; requires 2 nucleotide substitutions).
Q9MY56	66	66	N -> I (in allele DRB1*13:87).
Q9MY56	66	66	N -> S (in allele DRB1*13:60 and allele DRB1*13:84).
Q9MY56	66	66	N -> Y (in allele DRB1*13:03, allele DRB1*13:07, allele DRB1*13:04, allele DRB1*13:11, allele DRB1*13:12, allele DRB1*13:13, allele DRB1*13:14, allele DRB1*13:17, allele DRB1*13:21, allele DRB1*13:22, allele DRB1*13:23, allele DRB1*13:24, allele DRB1*13:25, allele DRB1*13:30, allele DRB1*13:33, allele DRB1*13:37, allele DRB1*13:38, allele DRB1*13:44, allele DRB1*13:45, allele DRB1*13:46, allele DRB1*13:47, allele DRB1*13:48, allele DRB1*13:49, allele DRB1*13:52, allele DRB1*13:54, allele DRB1*13:55, allele DRB1*13:58, allele DRB1*13:66, allele DRB1*13:70, allele DRB1*13:75, allele DRB1*13:81, allele DRB1*13:82, allele DRB1*13:86 and allele DRB1*13:88).
Q9MY56	67	67	V -> L (in allele DRB1*13:34, allele DRB1*13:62 and allele DRB1*13:64).
Q9MY56	76	76	F -> Y (in allele DRB1*13:03, allele DRB1*13:07, allele DRB1*13:08, allele DRB1*13:12, allele DRB1*13:13, allele DRB1*13:19, allele DRB1*13:26, allele DRB1*13:32, allele DRB1*13:33, allele DRB1*13:36, allele DRB1*13:37, allele DRB1*13:38, allele DRB1*13:40, allele DRB1*13:47, allele DRB1*13:48, allele DRB1*13:49, allele DRB1*13:53, allele DRB1*13:55, allele DRB1*13:58, allele DRB1*13:60, allele DRB1*13:65, allele DRB1*13:70, allele DRB1*13:72, allele DRB1*13:76, allele DRB1*13:81, allele DRB1*13:84, allele DRB1*13:85 and allele DRB1*13:88).
Q9MY56	77	77	R -> L (in allele DRB1*13:35).
Q9MY56	77	77	R -> W (in allele DRB1*13:80).
Q9MY56	79	79	V -> L (in allele DRB1*13:51).
Q9MY56	86	86	D -> A (in allele DRB1*13:43 and allele DRB1*13:45).
Q9MY56	86	86	D -> S (in allele DRB1*13:03, allele DRB1*13:04, allele DRB1*13:12, allele DRB1*13:13, allele DRB1*13:21, allele DRB1*13:30, allele DRB1*13:32, allele DRB1*13:33, allele DRB1*13:38, allele DRB1*13:48, allele DRB1*13:49, allele DRB1*13:55, allele DRB1*13:58, allele DRB1*13:65, allele DRB1*13:66, allele DRB1*13:75, allele DRB1*13:81 and allele DRB1*13:88; requires 2 nucleotide substitutions).
Q9MY56	86	86	D -> V (in allele DRB1*13:31, allele DRB1*13:46, allele DRB1*13:54 and allele DRB1*13:77).
Q9MY56	89	89	Y -> H (in allele DRB1*13:43 and allele DRB1*13:45).
Q9MY56	89	89	Y -> S (in allele DRB1*13:39, allele DRB1*13:54, allele DRB1*13:77, allele DRB1*13:78 and allele DRB1*13:79).
Q9MY56	96	96	I -> F (in allele DRB1*13:07, allele DRB1*13:05, allele DRB1*13:11, allele DRB1*13:14, allele DRB1*13:18, allele DRB1*13:21, allele DRB1*13:24, allele DRB1*13:26, allele DRB1*13:42, allele DRB1*13:46, allele DRB1*13:47, allele DRB1*13:49, allele DRB1*13:50, allele DRB1*13:54, allele DRB1*13:55, allele DRB1*13:62, allele DRB1*13:63 and allele DRB1*13:75).
Q9MY56	96	96	I -> L (in allele DRB1*13:20, allele DRB1*13:25, allele DRB1*13:29, allele DRB1*13:43, allele DRB1*13:44, allele DRB1*13:56, allele DRB1*13:60, allele DRB1*13:71, allele DRB1*13:78, allele DRB1*13:86 and allele DRB1*13:88).
Q9MY56	97	97	L -> R (in allele DRB1*13:74).
Q9MY56	99	99	D -> Q (in allele DRB1*13:09, allele DRB1*13:44 and allele DRB1*13:86; requires 2 nucleotide substitutions).
Q9MY56	100	100	E -> A (in allele DRB1*13:09).
Q9MY56	100	100	E -> K (in allele DRB1*13:03, allele DRB1*13:10, allele DRB1*13:33, allele DRB1*13:37, allele DRB1*13:66, allele DRB1*13:81, allele DRB1*13:85 and allele DRB1*13:88).
Q9MY56	100	100	E -> R (in allele DRB1*13:07, allele DRB1*13:05, allele DRB1*13:06, allele DRB1*13:11, allele DRB1*13:12, allele DRB1*13:13, allele DRB1*13:14, allele DRB1*13:18, allele DRB1*13:21, allele DRB1*13:25, allele DRB1*13:26, allele DRB1*13:30, allele DRB1*13:42, allele DRB1*13:44, allele DRB1*13:46, allele DRB1*13:47, allele DRB1*13:49, allele DRB1*13:50, allele DRB1*13:55, allele DRB1*13:56, allele DRB1*13:58, allele DRB1*13:60, allele DRB1*13:62, allele DRB1*13:77, allele DRB1*13:82 and allele DRB1*13:86; requires 2 nucleotide substitutions).
Q9MY56	103	103	A -> E (in allele DRB1*13:76).
Q9MY56	103	103	A -> L (in allele DRB1*13:13, allele DRB1*13:18, allele DRB1*13:47 and allele DRB1*13:55; requires 2 nucleotide substitutions).
Q9MY56	106	106	T -> N (in allele DRB1*13:33 and allele DRB1*13:61).
Q9MY56	113	113	G -> R (in allele DRB1*13:28).
Q9MY56	114	114	V -> A (in allele DRB1*13:58 and allele DRB1*13:81).
Q9MY56	115	115	V -> D (in allele DRB1*13:16).
Q9MY56	115	115	V -> G (in allele DRB1*13:02, allele DRB1*13:03, allele DRB1*13:07, allele DRB1*13:05, allele DRB1*13:12, allele DRB1*13:13, allele DRB1*13:14, allele DRB1*13:21, allele DRB1*13:23, allele DRB1*13:25, allele DRB1*13:26, allele DRB1*13:29, allele DRB1*13:30, allele DRB1*13:31, allele DRB1*13:33, allele DRB1*13:34, allele DRB1*13:36, allele DRB1*13:37, allele DRB1*13:38, allele DRB1*13:39, allele DRB1*13:41, allele DRB1*13:45, allele DRB1*13:46, allele DRB1*13:47, allele DRB1*13:49, allele DRB1*13:50, allele DRB1*13:55, allele DRB1*13:56, allele DRB1*13:60, allele DRB1*13:62, allele DRB1*13:63, allele DRB1*13:65, allele DRB1*13:66, allele DRB1*13:67, allele DRB1*13:73, allele DRB1*13:74, allele DRB1*13:82, allele DRB1*13:85, allele DRB1*13:86 and allele DRB1*13:88).
Q9GJ56	39	39	Y -> L (in allele DRB1*14:46; requires 2 nucleotide substitutions).
Q9GJ56	39	39	Y -> Q (in allele DRB1*14:10 and allele DRB1*14:57; requires 2 nucleotide substitutions).
Q9GJ56	40	40	S -> P (in allele DRB1*14:39).
Q9GJ56	40	40	S -> R (in allele DRB1*14:46).
Q9GJ56	40	40	S -> V (in allele DRB1*14:10 and allele DRB1*14:57; requires 2 nucleotide substitutions).
Q9GJ56	41	41	T -> K (in allele DRB1*14:10, allele DRB1*14:46 and allele DRB1*14:57).
Q9GJ56	42	42	S -> G (in allele DRB1*14:04, allele DRB1*14:11, allele DRB1*14:15, allele DRB1*14:28, allele DRB1*14:31, allele DRB1*14:50, allele DRB1*14:52, allele DRB1*14:61, allele DRB1*14:68, allele DRB1*14:71, allele DRB1*14:73, allele DRB1*14:76 and allele DRB1*14:79).
Q9GJ56	42	42	S -> H (in allele DRB1*14:10 and allele DRB1*14:57; requires 2 nucleotide substitutions).
Q9GJ56	45	45	H -> Q (in allele DRB1*14:05, allele DRB1*14:37, allele DRB1*14:43, allele DRB1*14:44, allele DRB1*14:45, allele DRB1*14:56 and allele DRB1*14:84).
Q9GJ56	45	45	H -> Y (in allele DRB1*14:04, allele DRB1*14:11, allele DRB1*14:15, allele DRB1*14:28, allele DRB1*14:31, allele DRB1*14:50, allele DRB1*14:52, allele DRB1*14:68, allele DRB1*14:71, allele DRB1*14:73, allele DRB1*14:76 and allele DRB1*14:79).
Q9GJ56	54	54	R -> Q (in allele DRB1*14:26).
Q9GJ56	55	55	F -> Y (in allele DRB1*14:82).
Q9GJ56	56	56	L -> M (in allele DRB1*14:83).
Q9GJ56	57	57	D -> E (in allele DRB1*14:02, allele DRB1*14:03, allele DRB1*14:06, allele DRB1*14:12, allele DRB1*14:13, allele DRB1*14:18, allele DRB1*14:19, allele DRB1*14:20, allele DRB1*14:24, allele DRB1*14:27, allele DRB1*14:29, allele DRB1*14:40, allele DRB1*14:41, allele DRB1*14:46, allele DRB1*14:47, allele DRB1*14:48, allele DRB1*14:49, allele DRB1*14:51, allele DRB1*14:52, allele DRB1*14:63, allele DRB1*14:67, allele DRB1*14:77, allele DRB1*14:78, allele DRB1*14:81, allele DRB1*14:83 and allele DRB1*14:85).
Q9GJ56	59	59	Y -> H (in allele DRB1*14:70).
Q9GJ56	61	61	H -> Y (in allele DRB1*14:25, allele DRB1*14:42, allele DRB1*14:53, allele DRB1*14:58 and allele DRB1*14:69).
Q9GJ56	66	66	F -> N (in allele DRB1*14:02, allele DRB1*14:03, allele DRB1*14:06, allele DRB1*14:09, allele DRB1*14:12, allele DRB1*14:13, allele DRB1*14:17, allele DRB1*14:18, allele DRB1*14:19, allele DRB1*14:21, allele DRB1*14:24, allele DRB1*14:27, allele DRB1*14:29, allele DRB1*14:30, allele DRB1*14:33, allele DRB1*14:46, allele DRB1*14:47, allele DRB1*14:48, allele DRB1*14:51, allele DRB1*14:52, allele DRB1*14:59, allele DRB1*14:63, allele DRB1*14:64, allele DRB1*14:67, allele DRB1*14:78, allele DRB1*14:80, allele DRB1*14:81, allele DRB1*14:83 and allele DRB1*14:85; requires 2 nucleotide substitutions).
Q9GJ56	66	66	F -> Y (in allele DRB1*14:25, allele DRB1*14:42, allele DRB1*14:53, allele DRB1*14:58 and allele DRB1*14:69).
Q9GJ56	67	67	V -> L (in allele DRB1*14:41 and allele DRB1*14:77).
Q9GJ56	74	74	G -> R (in allele DRB1*14:36 and allele DRB1*14:60).
Q9GJ56	76	76	Y -> F (in allele DRB1*14:17, allele DRB1*14:21, allele DRB1*14:30, allele DRB1*14:33, allele DRB1*14:35, allele DRB1*14:42, allele DRB1*14:53, allele DRB1*14:64, allele DRB1*14:65 and allele DRB1*14:72).
Q9GJ56	80	80	T -> R (in allele DRB1*14:59).
Q9GJ56	86	86	A -> D (in allele DRB1*14:02, allele DRB1*14:03, allele DRB1*14:05, allele DRB1*14:06, allele DRB1*14:08, allele DRB1*14:09, allele DRB1*14:11, allele DRB1*14:12, allele DRB1*14:14, allele DRB1*14:15, allele DRB1*14:17, allele DRB1*14:18, allele DRB1*14:19, allele DRB1*14:20, allele DRB1*14:21, allele DRB1*14:23, allele DRB1*14:24, allele DRB1*14:27, allele DRB1*14:29, allele DRB1*14:30, allele DRB1*14:33, allele DRB1*14:34, allele DRB1*14:36, allele DRB1*14:37, allele DRB1*14:40, allele DRB1*14:41, allele DRB1*14:42, allele DRB1*14:43, allele DRB1*14:44, allele DRB1*14:45, allele DRB1*14:46, allele DRB1*14:47, allele DRB1*14:51, allele DRB1*14:52, allele DRB1*14:56, allele DRB1*14:59, allele DRB1*14:64, allele DRB1*14:67, allele DRB1*14:72, allele DRB1*14:77, allele DRB1*14:80, allele DRB1*14:81, allele DRB1*14:83 and allele DRB1*14:84).
Q9GJ56	86	86	A -> S (in allele DRB1*14:13, allele DRB1*14:63, allele DRB1*14:65, allele DRB1*14:78 and allele DRB1*14:85).
Q9GJ56	86	86	A -> T (in allele DRB1*14:62).
Q9GJ56	86	86	A -> V (in allele DRB1*14:48).
Q9GJ56	87	87	A -> E (in allele DRB1*14:11).
Q9GJ56	89	89	H -> S (in allele DRB1*14:48 and allele DRB1*14:64; requires 2 nucleotide substitutions).
Q9GJ56	89	89	H -> Y (in allele DRB1*14:02, allele DRB1*14:03, allele DRB1*14:05, allele DRB1*14:06, allele DRB1*14:09, allele DRB1*14:11, allele DRB1*14:12, allele DRB1*14:13, allele DRB1*14:14, allele DRB1*14:15, allele DRB1*14:17, allele DRB1*14:18, allele DRB1*14:19, allele DRB1*14:20, allele DRB1*14:21, allele DRB1*14:23, allele DRB1*14:24, allele DRB1*14:27, allele DRB1*14:29, allele DRB1*14:30, allele DRB1*14:33, allele DRB1*14:36, allele DRB1*14:37, allele DRB1*14:40, allele DRB1*14:41, allele DRB1*14:42, allele DRB1*14:43, allele DRB1*14:44, allele DRB1*14:45, allele DRB1*14:46, allele DRB1*14:47, allele DRB1*14:51, allele DRB1*14:52, allele DRB1*14:56, allele DRB1*14:57, allele DRB1*14:59, allele DRB1*14:63, allele DRB1*14:65, allele DRB1*14:67, allele DRB1*14:76, allele DRB1*14:77, allele DRB1*14:78, allele DRB1*14:80, allele DRB1*14:81, allele DRB1*14:83, allele DRB1*14:84 and allele DRB1*14:85).
Q9GJ56	96	96	L -> F (in allele DRB1*14:15, allele DRB1*14:22, allele DRB1*14:25, allele DRB1*14:27, allele DRB1*14:53 and allele DRB1*14:73).
Q9GJ56	96	96	L -> I (in allele DRB1*14:16, allele DRB1*14:24, allele DRB1*14:37, allele DRB1*14:45, allele DRB1*14:57, allele DRB1*14:63, allele DRB1*14:67 and allele DRB1*14:78).
Q9GJ56	99	99	R -> D (in allele DRB1*14:03, allele DRB1*14:12, allele DRB1*14:15, allele DRB1*14:16, allele DRB1*14:22, allele DRB1*14:25, allele DRB1*14:27, allele DRB1*14:40, allele DRB1*14:53, allele DRB1*14:57, allele DRB1*14:63, allele DRB1*14:67, allele DRB1*14:69, allele DRB1*14:73, allele DRB1*14:74, allele DRB1*14:77, allele DRB1*14:78, allele DRB1*14:84 and allele DRB1*14:85; requires 2 nucleotide substitutions).
Q9GJ56	99	99	R -> Q (in allele DRB1*14:02, allele DRB1*14:06, allele DRB1*14:09, allele DRB1*14:13, allele DRB1*14:17, allele DRB1*14:19, allele DRB1*14:20, allele DRB1*14:21, allele DRB1*14:24, allele DRB1*14:29, allele DRB1*14:30, allele DRB1*14:33, allele DRB1*14:37, allele DRB1*14:41, allele DRB1*14:46, allele DRB1*14:47, allele DRB1*14:48, allele DRB1*14:49, allele DRB1*14:51, allele DRB1*14:52, allele DRB1*14:76, allele DRB1*14:79, allele DRB1*14:80 and allele DRB1*14:83).
Q9GJ56	100	100	R -> A (in allele DRB1*14:24 and allele DRB1*14:37; requires 2 nucleotide substitutions).
Q9GJ56	100	100	R -> E (in allele DRB1*14:16 and allele DRB1*14:57; requires 2 nucleotide substitutions).
Q9GJ56	100	100	R -> K (in allele DRB1*14:19, allele DRB1*14:21, allele DRB1*14:76 and allele DRB1*14:79).
Q9GJ56	102	102	A -> G (in allele DRB1*14:76 and allele DRB1*14:79).
Q9GJ56	102	102	A -> S (in allele DRB1*14:56).
Q9GJ56	103	103	E -> A (in allele DRB1*14:02, allele DRB1*14:06, allele DRB1*14:09, allele DRB1*14:13, allele DRB1*14:16, allele DRB1*14:17, allele DRB1*14:19, allele DRB1*14:20, allele DRB1*14:21, allele DRB1*14:22, allele DRB1*14:24, allele DRB1*14:25, allele DRB1*14:29, allele DRB1*14:30, allele DRB1*14:31, allele DRB1*14:32, allele DRB1*14:34, allele DRB1*14:37, allele DRB1*14:41, allele DRB1*14:46, allele DRB1*14:47, allele DRB1*14:48, allele DRB1*14:49, allele DRB1*14:52, allele DRB1*14:53, allele DRB1*14:57, allele DRB1*14:65, allele DRB1*14:69, allele DRB1*14:74, allele DRB1*14:80, allele DRB1*14:81 and allele DRB1*14:83).
Q9GJ56	103	103	E -> L (in allele DRB1*14:03, allele DRB1*14:12, allele DRB1*14:15, allele DRB1*14:27, allele DRB1*14:40, allele DRB1*14:55, allele DRB1*14:63, allele DRB1*14:67, allele DRB1*14:77, allele DRB1*14:78, allele DRB1*14:84 and allele DRB1*14:85; requires 2 nucleotide substitutions).
Q9GJ56	103	103	E -> R (in allele DRB1*14:76 and allele DRB1*14:79; requires 2 nucleotide substitutions).
Q9GJ56	106	106	T -> A (in allele DRB1*14:43).
Q9GJ56	106	106	T -> N (in allele DRB1*14:38, allele DRB1*14:47, allele DRB1*14:50, allele DRB1*14:76 and allele DRB1*14:79).
Q9GJ56	110	110	H -> Y (in allele DRB1*14:75).
Q9GJ56	114	114	V -> A (in allele DRB1*14:28 and allele DRB1*14:29).
Q9GJ56	115	115	V -> G (in allele DRB1*14:02, allele DRB1*14:03, allele DRB1*14:07, allele DRB1*14:09, allele DRB1*14:13, allele DRB1*14:14, allele DRB1*14:19, allele DRB1*14:22, allele DRB1*14:24, allele DRB1*14:25, allele DRB1*14:27, allele DRB1*14:30, allele DRB1*14:36, allele DRB1*14:40, allele DRB1*14:41, allele DRB1*14:42, allele DRB1*14:44, allele DRB1*14:46, allele DRB1*14:47, allele DRB1*14:48, allele DRB1*14:49, allele DRB1*14:51, allele DRB1*14:53, allele DRB1*14:63, allele DRB1*14:67, allele DRB1*14:68, allele DRB1*14:69, allele DRB1*14:77 and allele DRB1*14:85).
Q9GJ56	115	115	V -> M (in allele DRB1*14:71).
Q9GJ56	141	141	Y -> H (in allele DRB1*14:02, allele DRB1*14:03, allele DRB1*14:04, allele DRB1*14:05, allele DRB1*14:06, allele DRB1*14:07, allele DRB1*14:10, allele DRB1*14:11, allele DRB1*14:13, allele DRB1*14:14, allele DRB1*14:21, allele DRB1*14:46, allele DRB1*14:54, allele DRB1*14:57 and allele DRB1*14:82).
Q5Y7B9	5	5	K -> R (in dbSNP:rs9270305).
Q5Y7B9	55	55	F -> Y (in dbSNP:rs16822516).
Q5Y7B9	59	59	Y -> H (in allele DRB1*15:03).
Q5Y7B9	96	96	I -> F (in allele DRB1*15:04).
Q5Y7B9	106	106	T -> N (in dbSNP:rs9269941).
Q5Y7B9	115	115	V -> G (in allele DRB1*15:02).
Q5Y7B9	164	164	G -> S (in dbSNP:rs1059633).
Q5Y7B9	169	169	A -> T (in dbSNP:rs2308768).
Q5Y7B9	236	236	V -> M (in dbSNP:rs2230816).
Q5Y7B9	262	262	T -> R (in dbSNP:rs9269744).
Q3HUP9	42	42	R -> K (in allele DRB1*16:12).
Q3HUP9	43	43	E -> K (in allele DRB1*16:11).
Q3HUP9	56	56	L -> P (in allele DRB1*16:07).
Q3HUP9	66	66	S -> N (in allele DRB1*16:08).
Q3HUP9	76	76	Y -> F (in allele DRB1*16:09 and allele DRB1*16:10).
Q3HUP9	96	96	F -> I (in allele DRB1*16:05 and allele DRB1*16:07).
Q3HUP9	96	96	F -> L (in allele DRB1*16:02, allele DRB1*16:10, allele DRB1*16:11 and allele DRB1*16:12).
Q3HUP9	101	101	R -> A (in allele DRB1*16:03; requires 2 nucleotide substitutions).
Q3HUP9	103	103	A -> L (in allele DRB1*16:04; requires 2 nucleotide substitutions).
Q3HUP9	262	262	T -> R (in dbSNP:rs9269744).
P04403	91	91	S -> E (in variant 1A).
P24565	31	31	Missing (in minor form SM, less than 7%).
P24565	37	37	E -> Q (in napin-1B).
P24565	107	110	Missing (in napin-1B).
P01089	74	74	P -> T.
P14060	54	54	T -> I (in dbSNP:rs3088283).
P14060	71	71	R -> I (in dbSNP:rs4986952).
P14060	79	79	I -> V (in dbSNP:rs6201).
P14060	90	90	G -> S (in dbSNP:rs6684974).
P14060	286	286	F -> L (in dbSNP:rs6205).
P14060	367	367	T -> N (in dbSNP:rs1047303).
P26439	10	10	A -> E (in AH2; activity abolished; dbSNP:rs28934880).
P26439	10	10	A -> V (in AH2; nonsalt-wasting form).
P26439	15	15	G -> D (in AH2; activity abolished).
P26439	74	74	D -> N (in dbSNP:rs4986954).
P26439	82	82	A -> T (in AH2).
P26439	94	94	E -> Q (in dbSNP:rs6211).
P26439	100	100	N -> S (in AH2; nonsalt-wasting form).
P26439	108	108	L -> W (in AH2; activity abolished).
P26439	129	129	G -> R (in AH2; nonsalt-wasting form).
P26439	142	142	E -> K (in AH2; activity abolished).
P26439	155	155	P -> L (in AH2; nonsalt-wasting form).
P26439	167	167	A -> V (in AH2; late onset; almost normal activity; dbSNP:rs35486059).
P26439	173	173	L -> R (in AH2; nonsalt-wasting form).
P26439	186	186	P -> L (in AH2; activity abolished).
P26439	205	205	L -> P (in AH2).
P26439	213	213	S -> G (in AH2; late onset; partial loss of activity).
P26439	216	216	K -> E (in AH2; late onset; partial loss of activity).
P26439	222	222	P -> H (in AH2; nonsalt-wasting form; activity abolished).
P26439	222	222	P -> Q (in AH2; activity abolished).
P26439	222	222	P -> T (in AH2).
P26439	231	238	Missing (in AH2; activity abolished).
P26439	236	236	L -> S (in AH2; mild; 100% of activity; dbSNP:rs35887327).
P26439	245	245	A -> P (in AH2; loss of 88% of activity).
P26439	253	253	Y -> N (in AH2; activity abolished).
P26439	254	254	Y -> D (in AH2; activity abolished).
P26439	259	259	T -> M (in AH2; activity abolished).
P26439	259	259	T -> R (in AH2; activity abolished).
P26439	294	294	G -> V (in AH2; nonsalt-wasting form; activity abolished).
Q9H2F3	19	19	G -> S (in CBAS1).
Q9H2F3	147	147	E -> K (in CBAS1; loss of activity).
Q9H2F3	250	250	T -> A (in dbSNP:rs9938550).
Q9H2F3	347	347	L -> P (in dbSNP:rs34212827).
Q9Y3L3	431	431	L -> P (in dbSNP:rs929038).
Q9Y3L3	511	511	P -> L (in dbSNP:rs929038).
Q9Y3L3	656	656	S -> F (in dbSNP:rs2269548).
P78314	415	415	R -> P (in CRBM).
P78314	415	415	R -> Q (in CRBM).
P78314	418	418	P -> H (in CRBM).
P78314	418	418	P -> L (in CRBM).
P78314	418	418	P -> R (in CRBM).
P78314	420	420	G -> E (in CRBM; dbSNP:rs28938171).
P78314	420	420	G -> R (in CRBM; dbSNP:rs28938170).
P46952	37	37	V -> I (in dbSNP:rs3816183).
P46952	42	42	T -> S (in dbSNP:rs3816182).
P29372	22	22	K -> Q (in dbSNP:rs3176383).
P29372	64	64	P -> L (in dbSNP:rs2308315).
P29372	71	71	Y -> H (in dbSNP:rs2266607).
P29372	93	93	Q -> R (in dbSNP:rs25671).
P29372	120	120	R -> C (in dbSNP:rs2308313).
P29372	141	141	R -> Q (in dbSNP:rs2308312).
P29372	258	258	A -> V (in dbSNP:rs769193).
P29372	298	298	A -> S (in dbSNP:rs2234949).
Q9Y578	214	214	V -> I.
P41636	422	422	E -> G.
P08908	16	16	P -> L (in dbSNP:rs1800041).
P08908	22	22	G -> S (in dbSNP:rs1799920).
P08908	28	28	I -> V (in dbSNP:rs1799921).
P08908	184	184	P -> L (in dbSNP:rs1800043).
P08908	220	220	R -> L (in dbSNP:rs1800044).
P08908	273	273	G -> D (in dbSNP:rs1800042).
Q64264	17	19	EPF -> DHL (in strain: C3H/An).
P28222	124	124	F -> C (in dbSNP:rs130060).
P28222	219	219	F -> L (in dbSNP:rs130061).
P28222	367	367	I -> V (in dbSNP:rs130063).
P28222	374	374	E -> K (in dbSNP:rs130064).
P28221	265	265	S -> L (in dbSNP:rs6299).
P28566	208	208	A -> T (in dbSNP:rs3828741).
P28566	262	262	S -> F (in dbSNP:rs6303).
Q5MV14	29	32	Missing (in strain: CA-128).
Q5MV14	46	46	E -> Q (in strain: NC-066).
Q5MV14	49	49	E -> V (in strain: NC-036 and NC-123).
Q5MV14	51	51	D -> E (in strain: CA-002, CA-008, CA- 009, CA-011, CA-013, CA-015, CA-026, CA- 031, CA-033, CA-034, CA-035, CA-037, CA- 040, CA-048, CA-052, CA-055, CA-057, CA- 060, CA-061, CA-063, CA-064, CA-065, CA- 069, CA-072, CA-073, CA-075, CA-088, CA- 090, CA-093, CA-096, CA-100, CA-114, CA- 120, CA-127, CA-129, CA-132, CA-133, CA- 140, CA-142, CA-145, CA-147, NC-003, NC- 006, NC-010, NC-011, NC-014, NC-015, NC- 021, NC-033, NC-034, NC-036, NC-040, NC- 042, NC-044, NC-046, NC-047, NC-051, NC- 052, NC-054, NC-057, NC-066, NC-069, NC- 071, NC-073, NC-081, NC-084, NC-086, NC- 089, NC-092, NC-094, NC-096, NC-097, NC- 101, NC-103, NC-104, NC-107, NC-108, NC- 118, NC-119, NC-121, NC-123, NC-127, NC- 128, NC-129, NC-134, NC-136, NC-137, NC- 138, NC-141, NC-144 and NC-148).
Q5MV14	52	52	D -> E (in strain: NC-103 and NC-118).
Q5MV14	54	54	A -> G (in strain: NC-061).
Q5MV14	76	76	S -> T (in strain: NC-012, NC-023, NC- 037, NC-038, NC-039, NC-124 and NC-131).
Q5MV14	86	86	S -> T (in strain: CA-008, CA-009, CA- 013, CA-026, CA-031, CA-033, CA-035, CA- 037, CA-040, CA-048, CA-052, CA-057, CA- 060, CA-061, CA-063, CA-065, CA-072, CA- 073, CA-088, CA-093, CA-096, CA-100, CA- 114, CA-120, CA-129, CA-132, CA-133, CA- 140, CA-147, NC-011, NC-015, NC-021, NC- 033, NC-034, NC-040, NC-042, NC-044, NC- 046, NC-047, NC-051, NC-052, NC-054, NC- 057, NC-069, NC-084, NC-089, NC-092, NC- 094, NC-097, NC-103, NC-107, NC-119, NC- 121, NC-127, NC-128, NC-129, NC-134, NC- 137, NC-138, NC-141, NC-144 and NC-148).
Q5MV14	91	91	P -> Q (in strain: CA-030, CA-068, CA- 091, NC-008, NC-025, NC-043, NC-048, NC- 060, NC-075, NC-088, NC-091, NC-114, NC- 116 and NC-135).
Q5MV14	96	96	V -> A (in strain: CA-008, CA-009, CA- 011, CA-013, CA-015, CA-026, CA-031, CA- 033, CA-034, CA-035, CA-037, CA-040, CA- 048, CA-052, CA-055, CA-057, CA-060, CA- 061, CA-063, CA-064, CA-065, CA-069, CA- 072, CA-073, CA-075, CA-088, CA-090, CA- 093, CA-095, CA-096, CA-100, CA-114, CA- 120, CA-129, CA-132, CA-133, CA-140, CA- 147, NC-010, NC-011, NC-012, NC-014, NC- 015, NC-021, NC-023, NC-033, NC-034, NC- 036, NC-037, NC-038, NC-039, NC-040, NC- 042, NC-044, NC-046, NC-047, NC-051, NC- 052, NC-054, NC-057, NC-066, NC-069, NC- 073, NC-081, NC-084, NC-086, NC-089, NC- 092, NC-094, NC-096, NC-097, NC-101, NC- 103, NC-104, NC-107, NC-108, NC-118, NC- 119, NC-121, NC-123, NC-124, NC-127, NC- 128, NC-129, NC-131, NC-134, NC-136, NC- 137, NC-138, NC-141, NC-144, NC-148 and Oregon-R).
Q5MV14	143	143	A -> T (in strain: CA-064).
Q5MV14	146	146	S -> T (in strain: CA-008, CA-026, CA- 033, CA-035, CA-037, CA-048, CA-052, CA- 057, CA-060, CA-063, CA-065, CA-072, CA- 088, CA-090, CA-096, CA-100, CA-114, CA- 120, CA-132, CA-140, CA-147, NC-011, NC- 014, NC-033, NC-034, NC-040, NC-042, NC- 044, NC-046, NC-047, NC-051, NC-052, NC- 054, NC-057, NC-069, NC-084, NC-092, NC- 094, NC-096, NC-103, NC-105, NC-107, NC- 108, NC-118, NC-119, NC-121, NC-125, NC- 126, NC-127, NC-129, NC-138, NC-144 and NC-148).
Q5MV14	171	171	A -> V (in strain: CA-008, CA-009, CA- 026, CA-031, CA-033, CA-035, CA-037, CA- 048, CA-052, CA-057, CA-060, CA-061, CA- 063, CA-065, CA-072, CA-088, CA-096, CA- 100, CA-114, CA-120, CA-132, CA-140, CA- 147, NC-011, NC-034, NC-040, NC-042, NC- 044, NC-046, NC-047, NC-051, NC-052, NC- 054, NC-057, NC-069, NC-084, NC-092, NC- 094, NC-103, NC-107, NC-119, NC-121, NC- 127, NC-129, NC-138, NC-144 and NC-148).
Q5MV14	182	182	G -> D (in strain: NC-066).
Q5MV14	184	184	D -> Y (in strain: NC-086, NC-104 and NC- 010).
Q5MV14	196	196	S -> N (in strain: NC-114).
Q5MV14	198	198	Q -> H (in strain: CA-001, CA-009, CA- 011, CA-013, CA-015, CA-026, CA-030, CA- 031, CA-033, CA-034, CA-035, CA-037, CA- 040, CA-046, CA-048, CA-052, CA-055, CA- 057, CA-060, CA-061, CA-063, CA-065, CA- 066, CA-068, CA-069, CA-072, CA-073, CA- 075, CA-088, CA-090, CA-091, CA-093, CA- 095, CA-096, CA-100, CA-114, CA-120, CA- 132, CA-133, CA-140, CA-147, NC-008, NC- 011, NC-014, NC-015, NC-025, NC-034, NC- 040, NC-042, NC-043, NC-044, NC-046, NC- 047, NC-048, NC-051, NC-052, NC-054, NC- 057, NC-060, NC-066, NC-069, NC-073, NC- 075, NC-081, NC-084, NC-088, NC-091, NC- 092, NC-094, NC-096, NC-101, NC-103, NC- 107, NC-108, NC-110, NC-113, NC-114, NC- 115, NC-116, NC-118, NC-119, NC-121, NC- 123, NC-127, NC-128, NC-129, NC-135, NC- 136, NC-137, NC-138, NC-139, NC-142, NC- 144, NC-146, NC-148 and Oregon-R).
Q5MV14	213	213	S -> G (in strain: CA-015).
Q5MV14	531	531	Q -> L (in strain: NC-104).
Q5MV14	536	536	T -> A (in strain: CA-011, CA-017, CA- 018, CA-062, CA-130, NC-118, NC-022, NC- 026, NC-049 and NC-073).
Q5MV14	547	550	APSG -> GPMGPL (in strain: CA-013, CA-026 and CA-093).
Q5MV14	571	571	E -> V (in strain: CA-002, CA-003, CA- 008, CA-011, CA-012, CA-015, CA-023, CA- 027, CA-030, CA-031, CA-034, CA-035, CA- 037, CA-043, CA-044, CA-045, CA-046, CA- 048, CA-052, CA-055, CA-057, CA-058, CA- 063, CA-064, CA-065, CA-066, CA-068, CA- 070, CA-072, CA-073, CA-075, CA-081, CA- 083, CA-087, CA-088, CA-089, CA-091, CA- 096, CA-100, CA-105, CA-114, CA-120, CA- 123, CA-128, CA-129, CA-133, CA-140, CA- 145, CA-147, CA-148, NC-001, NC-002, NC- 003, NC-010, NC-011, NC-012, NC-013, NC- 015, NC-023, NC-024, NC-025, NC-027, NC- 028, NC-029, NC-030, NC-032, NC-033, NC- 034, NC-036, NC-040, NC-041, NC-042, NC- 043, NC-044, NC-046, NC-047, NC-048, NC- 050, NC-051, NC-052, NC-054, NC-057, NC- 059, NC-060, NC-061, NC-066, NC-069, NC- 071, NC-072, NC-074, NC-075, NC-077, NC- 079, NC-080, NC-081, NC-084, NC-086, NC- 087, NC-088, NC-089, NC-091, NC-092, NC- 094, NC-098, NC-101, NC-103, NC-104, NC- 107, NC-109, NC-110, NC-111, NC-112, NC- 113, NC-114, NC-115, NC-116, NC-119, NC- 121, NC-124, NC-127, NC-128, NC-129, NC- 131, NC-133, NC-134, NC-135, NC-136, NC- 137, NC-138, NC-144, NC-146, NC-147, NC- 148 and NC-149).
Q5MV14	585	585	T -> K (in strain: NC-026).
Q5MV14	588	588	T -> M (in strain: Berkeley, CA-009, CA- 010, CA-013, CA-026, CA-041, CA-060, CA- 063, CA-066, CA-086, CA-093, CA-113, CA- 137, CA-145, NC-006, NC-008, NC-021, NC- 064, NC-067, NC-123, NC-142 and NC-150).
Q5MV14	589	589	T -> R (in strain: CA-040, CA-056, CA- 115, CA-118, CA-126, CA-132, CA-142, NC- 005, NC-037, NC-038, NC-039, NC-053, NC- 068, NC-095, NC-100, NC-105, NC-125, NC- 126 and NC-139).
Q5MV14	648	648	A -> V (in strain: CA-023, CA-048, NC- 015, NC-110, NC-128, NC-133 and NC-137).
Q5MV14	657	657	Q -> P (in strain: CA-130).
Q5MV14	682	682	S -> W (in strain: CA-043, CA-058 and CA- 105).
Q5MV14	688	688	T -> I (in strain: CA-088).
Q5MV14	692	692	S -> T (in strain: NC-104).
Q5MV14	706	706	P -> T (in strain: NC-001).
Q5MV14	716	718	Missing (in strain: NC-118).
Q5MV14	716	717	Missing (in strain: CA-002, CA-009, CA- 010, CA-011, CA-017, CA-018, CA-023, CA- 030, CA-031, CA-037, CA-040, CA-041, CA- 044, CA-045, CA-047, CA-048, CA-052, CA- 056, CA-057, CA-062, CA-068, CA-070, CA- 075, CA-086, CA-087, CA-088, CA-089, CA- 091, CA-095, CA-096, CA-100, CA-113, CA- 114, CA-115, CA-118, CA-120, CA-126, CA- 127, CA-129, CA-132, CA-133, CA-136, CA- 140, CA-142, CA-145, CA-147, NC-001, NC- 003, NC-004, NC-005, NC-011, NC-015, NC- 017, NC-021, NC-022, NC-025, NC-033, NC- 034, NC-036, NC-037, NC-038, NC-039, NC- 040, NC-042, NC-044, NC-046, NC-048, NC- 049, NC-051, NC-052, NC-053, NC-054, NC- 057, NC-059, NC-068, NC-069, NC-070, NC- 071, NC-079, NC-080, NC-084, NC-086, NC- 087, NC-088, NC-089, NC-091, NC-092, NC- 094, NC-095, NC-100, NC-101, NC-104, NC- 105, NC-107, NC-109, NC-110, NC-111, NC- 112, NC-113, NC-114, NC-115, NC-116, NC- 119, NC-121, NC-123, NC-125, NC-126, NC- 128, NC-129, NC-133, NC-134, NC-135, NC- 136, NC-137, NC-138, NC-139, NC-142, NC- 144, NC-146, NC-147, NC-148, NC-149 and NC-150).
Q5MV14	716	716	Q -> H (in strain: NC-032).
Q5MV14	716	716	Q -> QH (in strain: NC-047).
Q5MV14	717	719	QQQ -> H (in strain: CA-069, NC-096 and NC-108).
P28223	25	25	T -> N (in dbSNP:rs1805055).
P28223	197	197	I -> V (in dbSNP:rs6304).
P28223	447	447	A -> V (in dbSNP:rs6308).
P28223	452	452	H -> Y (in dbSNP:rs6314).
Q5MTC7	14	14	D -> V (in strain: NC-100).
Q5MTC7	40	40	G -> R (in strain: CA-128, NC-005, NC-114 and NC-115).
Q5MTC7	61	61	I -> V (in strain: CA-001, CA-002, CA- 003, CA-008, CA-009, CA-010, CA-011, CA- 012, CA-015, CA-017, CA-018, CA-023, CA- 026, CA-027, CA-030, CA-034, CA-035, CA- 037, CA-040, CA-041, CA-043, CA-044, CA- 046, CA-047, CA-048, CA-052, CA-055, CA- 056, CA-057, CA-058, CA-060, CA-061, CA- 062, CA-063, CA-064, CA-065, CA-066, CA- 068, CA-069, CA-070, CA-072, CA-075, CA- 081, CA-086, CA-087, CA-088, CA-090, CA- 091, CA-093, CA-095, CA-105, CA-113, CA- 114, CA-120, CA-126, CA-128, CA-129, CA- 130, CA-132, CA-133, CA-136, CA-137, CA- 140, CA-142, CA-144, CA-145, CA-147, Oregon-R, NC-001, NC-002, NC-003, NC-004, NC-005, NC-006, NC-008, NC-010, NC-011, NC-012, NC-014, NC-015, NC-017, NC-021, NC-022, NC-023, NC-025, NC-026, NC-027, NC-028, NC-029, NC-030, NC-032, NC-033, NC-034, NC-036, NC-040, NC-041, NC-042, NC-043, NC-044, NC-046, NC-047, NC-048, NC-049, NC-051, NC-052, NC-053, NC-054, NC-057, NC-058, NC-059, NC-060, NC-062, NC-064, NC-066, NC-067, NC-068, NC-069, NC-071, NC-072, NC-073, NC-074, NC-075, NC-077, NC-079, NC-080, NC-081, NC-084, NC-086, NC-087, NC-089, NC-091, NC-092, NC-094, NC-095, NC-096, NC-097, NC-098, NC-100, NC-101, NC-103, NC-104, NC-105, NC-107, NC-108, NC-110, NC-112, NC-113, NC-114, NC-115, NC-116, NC-118, NC-119, NC-121, NC-123, NC-124, NC-126, NC-127, NC-128, NC-129, NC-131, NC-134, NC-135, NC-136, NC-137, NC-138, NC-139, NC-141, NC-142, NC-144, NC-146, NC-147, NC-149 and NC-148).
Q5MTC7	76	76	E -> K (in strain: CA-027).
Q5MTC7	79	79	R -> W (in strain: NC-037, NC-038, NC-039 and NC-109).
Q5MTC7	90	90	M -> I (in strain: NC-053).
Q5MTC7	301	301	A -> E (in strain: NC-026 and NC-027).
Q5MTC7	309	309	R -> H (in strain: CA-017, CA-061, CA- 062, CA-093, CA-132, CA-018, CA-027, CA- 070, CA-075, CA-081, CA-086, CA-096, CA- 100, CA-105, CA-126, CA-128, CA-130, CA- 137, CA-142, CA-145, NC-024, NC-048, NC- 071, NC-104, NC-005, NC-008, NC-018, NC- 025, NC-028, NC-043, NC-046, NC-049, NC- 054, NC-058, NC-070, NC-077, NC-095, NC- 098, NC-101, NC-103, NC-114, NC-115, NC- 119, NC-136 and NC-141).
Q5MTC7	310	310	S -> G (in strain: CA-003, CA-035, CA- 062, CA-066, CA-081, CA-091, CA-126, CA- 145, CA-010, CA-015, CA-017, CA-018, CA- 023, CA-027, CA-030, CA-061, CA-064, CA- 070, CA-072, CA-075, CA-086, CA-090, CA- 093, CA-095, CA-096, CA-100, CA-105, CA- 114, CA-128, CA-130, CA-132, CA-137, CA- 142, NC-010, NC-022, NC-028, NC-036, NC- 037, NC-054, NC-068, NC-092, NC-095, NC- 108, NC-100, NC-111, NC-119, NC-125, NC- 142, NC-001, NC-003, NC-005, NC-006, NC- 008, NC-012, NC-014, NC-017, NC-018, NC- 021, NC-023, NC-024, NC-025, NC-026, NC- 027, NC-032, NC-038, NC-039, NC-043, NC- 046, NC-048, NC-049, NC-053, NC-058, NC- 059, NC-069, NC-070, NC-071, NC-073, NC- 077, NC-084, NC-089, NC-094, NC-096, NC- 097, NC-098, NC-101, NC-103, NC-104, NC- 105, NC-107, NC-114, NC-115, NC-118, NC- 121, NC-123, NC-124, NC-126, NC-127, NC- 131, NC-136, NC-139, NC-141, NC-146 and NC-149).
Q5MTC7	460	460	T -> I (in strain: CA-040, CA-055 and CA- 098).
Q5MTC7	463	463	T -> S (in strain: NC-003 and NC-142).
Q5MTC7	478	481	Missing (in strain: CA-064, NC-096 and NC-108).
Q5MTC7	492	492	A -> V (in strain: CA-064, NC-015, NC- 096, NC-108, NC-128, NC-135 and NC-137).
P41595	421	421	M -> V (in dbSNP:rs6736017).
P28335	23	23	C -> S (in dbSNP:rs6318).
P28335	156	156	I -> V (in RNA edited version).
P28335	158	158	N -> S (in RNA edited version).
P28335	160	160	I -> V (in RNA edited version).
P46098	33	33	A -> T.
P46098	253	253	S -> N (in dbSNP:rs4938063).
P46098	344	344	R -> H (in dbSNP:rs35815285).
P46098	391	391	P -> R.
P46098	409	409	R -> Q.
O95264	129	129	Y -> S (in dbSNP:rs1176744).
O95264	143	143	I -> T (in dbSNP:rs34550504).
O95264	156	156	S -> R.
O95264	183	183	V -> I (in dbSNP:rs17116138).
Q8WXA8	128	128	V -> M (in a colorectal cancer sample; somatic mutation).
Q8WXA8	163	163	N -> K (in dbSNP:rs6766410).
Q8WXA8	405	405	G -> A (in dbSNP:rs6807362).
Q70Z44	171	171	G -> A (in dbSNP:rs6443930).
Q70Z44	225	225	R -> H (in dbSNP:rs1000952).
Q70Z44	435	435	R -> H (in dbSNP:rs6789754).
A5X5Y0	71	71	A -> T (in dbSNP:rs7627615).
A5X5Y0	430	430	A -> T (in dbSNP:rs13324468).
Q9UE23	372	372	C -> Y (in dbSNP:rs34826744).
P47898	262	262	R -> C (in a colorectal cancer sample; somatic mutation).
P34969	92	92	T -> K.
P34969	279	279	P -> L.
P34969	448	448	P -> Q (in dbSNP:rs33954285).
Q969T7	201	201	A -> V (in dbSNP:rs1046403).
Q969T7	205	205	S -> C (in dbSNP:rs1046404).
Q9UC42	137	137	D -> V (in P5N deficiency; may alter protein structure).
Q9UC42	181	181	L -> P (in P5N deficiency; may alter protein structure and markedly decreases activity).
Q9UC42	229	229	N -> S (in P5N deficiency; markedly decreases activity).
Q9UC42	280	280	G -> R (in P5N deficiency; markedly decreases activity).
P49902	3	3	T -> A (in dbSNP:rs10883841).
P49902	136	136	Q -> R (in dbSNP:rs12262171).
P21589	376	376	T -> A (in dbSNP:rs2229523).
P21589	379	379	M -> T (in dbSNP:rs2229524).
P56378	9	9	I -> V (in dbSNP:rs1053419).
P41582	31	31	V -> G (in strain: CT45).
P41582	206	206	E -> D (in strain: CT42).
P41582	300	300	A -> E (in strain: CT27).
Q59414	2	2	S -> L (in strain: ECOR 70).
Q59414	32	32	F -> Y (in strain: ECOR 70).
Q59414	39	39	T -> Q (in strain: O7:K1 / VW187).
Q59414	52	52	V -> D (in strain: ECOR 10).
Q59414	55	55	Y -> F (in strain: ECOR 10).
Q59414	102	102	N -> K (in strain: ECOR 65).
Q59414	117	117	A -> S (in strain: ECOR 70).
Q59414	123	125	IGT -> YRY (in strain: O7:K1 / VW187).
Q59414	170	170	V -> F (in strain: ECOR 10).
Q59414	175	175	A -> S (in strain: ECOR 45).
Q59414	209	209	N -> S (in strain: ECOR 68).
Q59414	211	211	T -> S (in strain: ECOR 10 and ECOR 69).
Q59414	216	216	A -> T (in strain: ECOR 67).
Q59414	294	294	D -> E (in strain: ECOR 70).
Q59414	308	308	A -> G (in strain: ECOR 68).
Q59414	313	313	D -> N (in strain: ECOR 67).
Q59414	315	315	A -> G (in strain: ECOR 70).
Q59414	325	325	L -> Q (in strain: ECOR 69).
Q59414	330	330	I -> S (in strain: ECOR 10).
Q59414	350	350	D -> A (in strain: ECOR 10 and ECOR 69).
Q59414	369	369	Q -> R (in strain: ECOR 10).
Q59414	422	422	S -> A (in strain: ECOR 10, ECOR 65, ECOR 68, ECOR 69 and ECOR 70).
P52209	268	268	A -> S (in dbSNP:rs11547610).
P36639	124	124	V -> M (in dbSNP:rs4866).
Q8IZ83	110	110	E -> K (in dbSNP:rs3745312).
Q8IZ83	227	227	L -> V (in dbSNP:rs1320303).
Q676U5	300	300	T -> A (associated with susceptibility to IBD10; dbSNP:rs2241880).
Q676U5	307	307	E -> K (in dbSNP:rs1866878).
Q8NAA4	220	220	R -> W (in dbSNP:rs11235604).
P02763	38	38	Q -> R (in allele ORM1*S).
P02763	167	167	R -> C (in dbSNP:rs3182034).
P02763	174	174	V -> M (in allele ORM1*F2; dbSNP:rs1126801).
P21350	38	38	S -> G.
P19652	38	38	R -> Q (in dbSNP:rs17650).
P19652	99	99	V -> A (in dbSNP:rs2636889).
P19652	141	141	G -> R (in dbSNP:rs12685968).
P19652	167	167	C -> R (in dbSNP:rs1126777).
P19652	174	174	M -> V (in dbSNP:rs2636890).
P21352	10	10	L -> V.
P21352	24	24	A -> V.
P21352	50	50	A -> R.
P21352	98	98	L -> V.
Q86U18	4	4	S -> L (in Z-Wrexham).
Q86U18	26	26	D -> A (in V-Munich).
Q86U18	37	37	T -> A (in dbSNP:rs11558262).
Q86U18	58	58	A -> T (in M5-Karlsruhe).
Q86U18	63	63	R -> C (in I; dbSNP:rs28931570).
Q86U18	65	65	L -> P (in M-Procida; dbSNP:rs28931569).
Q86U18	69	69	S -> F (in M6-Bonn).
Q86U18	75	75	Missing (in M-Malton, M-Nichinan and M- Palermo; associated with very low serum levels of AAT; homozygosity for allele M- Malton may be associated with a risk for chronic emphysema or infantile liver cirrhosis).
Q86U18	77	77	S -> F (in S-Iiyama; dbSNP:rs55819880).
Q86U18	84	84	A -> T (in M6-Passau).
Q86U18	91	91	G -> E (in M-Mineral springs; causes reduced AAT secretion; dbSNP:rs28931568).
Q86U18	92	92	T -> I (in QO-Lisbon; deficient AAT with very low serum levels).
Q86U18	109	109	T -> M (in Z-Bristol; deficient AA; disrupts the N-glycosylation site N-107).
Q86U18	112	112	P -> T (in M5-Berlin).
Q86U18	116	116	I -> N (in QO-Ludwigshafen; dbSNP:rs28931572).
Q86U18	125	125	R -> H (in M2; associated with D-400; dbSNP:rs709932).
Q86U18	139	139	G -> S (in QO-Newport; dbSNP:rs11558261).
Q86U18	172	172	G -> R (in V and M-Nichinan).
Q86U18	172	172	G -> W (in M2-Obernburg).
Q86U18	180	180	Q -> E (in L-Frankfurt).
Q86U18	190	198	QGKIVDLVK -> GFQNAILVR (in Aberrant form).
Q86U18	228	228	E -> K (in X).
Q86U18	237	237	V -> A (in M1A and Z; associated with K- 366 in Z; dbSNP:rs6647).
Q86U18	247	247	R -> C (in F; dbSNP:rs28929470).
Q86U18	280	280	D -> V (in P-Duarte/P-Cardiff/P-Lowell; associated with H-415 in Y-Barcelona; dbSNP:rs28929472).
Q86U18	288	288	E -> V (in S and T; dbSNP:rs17580).
Q86U18	305	305	Missing (in Basque).
Q86U18	354	354	S -> F (in S-Munich).
Q86U18	360	360	A -> T (in W-Bethesda; dbSNP:rs1802959).
Q86U18	365	365	D -> N (in P-St.Albans/P-Donauwoerth).
Q86U18	366	366	E -> K (in Z/Z-Augsburg/Z-Tun; associated with A-237 in Z; dbSNP:rs28929474).
Q86U18	382	382	M -> R (in Pittsburgh; has antithrombin activity; causes fatal bleeding diathesis).
Q86U18	386	386	P -> H (in Sao Tome).
Q86U18	386	386	P -> T (in L-Offenbach).
Q86U18	387	387	E -> K (in Christchurch).
Q86U18	393	393	P -> L (in M-Heerlen).
Q86U18	400	400	E -> D (in M2 and M3; associated with H- 125 in M2; dbSNP:rs1303).
Q86U18	415	415	P -> H (in Y-Barcelona; associated with V-280).
P39091	11	11	W -> L.
P39091	26	26	Q -> V.
P39091	37	37	G -> E.
P04217	52	52	R -> H (in dbSNP:rs893184).
P04217	395	395	H -> R (in dbSNP:rs2241788).
P39092	30	30	S -> G.
P85980	5	5	D -> N.
P85980	7	7	Q -> R.
Q9NXC9	555	555	V -> M (in dbSNP:rs9073).
Q9NXC9	558	558	A -> S (in dbSNP:rs11817448).
Q9TW06	27	27	N -> S (in strain: SFS 1.2).
Q9TW06	29	29	K -> N (in strain: M26, Ma7, WS16 and WS26).
Q9TW06	59	59	K -> R (in strain: isofemale line 32, La1, La3, La4, La5, La14, La15, La16, La21, La25, La34, La35, M18, Ma5, Ma8, Ma13, Ma18, Ma20, Ma21, Ma45, Ma48, Ma52, Ma67, Mo1b, Mo52b, Mo80b, NFS 6.1, SFS 1.2, WS6, WS19, Zim26, Zim29, Zim30 and Zim56).
Q9TW06	104	104	K -> E (in strain: SFS 1.2).
Q9TW06	105	105	A -> S (in strain: La16 and La35).
Q9TW06	108	108	N -> D (in strain: SFS 2.3).
Q9TW06	113	113	R -> L (in strain: isofemale line 31, isofemale line 32, isofemale line 68, La14, La14, La16, La35, M01, M06, M09, M12, M26, M47, Ma5, Ma7, Ma13, Ma18, Ma20, Ma21, Ma45, Ma48, Ma50, Ma52, Ma67, Mo2b, Mo15b, Mo34a, Mo36a, Mo37a, Mo47a, Mo52b, Mo58b, Mo80b, NFS 5.1, NFS 5.2, NFS 5.4, NFS 6.2, NFS 6.3, NFS 6.4, SFS 1.1, SFS 1.3, SFS 1.4, SFS 2.2, SFS 3.1, SFS 3.3, WS1, WS6, WS9, WS12, WS16, WS26, WS47, WS56, Zim2, Zim26, Zim29, Zim30, Zim32, Zim37, Zim42 and Zim56).
Q9TW06	153	153	K -> M (in strain: Berkeley, isofemale line 32, La13, La14, La15, La16, M39, Ma5, Ma21, Ma45, Ma52, Ma67, Mo1b, Mo8b, Mo40b, Mo52b, NFS 5.3, NFS 6.1, NFS 7.8, SFS 1.1, SFS 1.2, SFS 1.4, SFS 2.3, SFS 2.4, SFS 3.2, SFS 3.4, Zim29, Zim30, Zim42 and Zim56).
Q9TW06	171	171	I -> V (in strain: NFS 5.2).
Q9TW06	214	214	E -> D (in strain: Ma7).
P08697	2	2	A -> V (in dbSNP:rs2070862).
P08697	27	27	A -> V.
P08697	33	33	R -> W (in dbSNP:rs2070863).
P08697	98	98	A -> G (in dbSNP:rs36021516).
P08697	176	176	Missing (in APLID; variant Okinawa; probably blocks intracellular transport of alpha-2-plasmin inhibitor).
P08697	411	411	V -> M (in APLID).
P08697	434	434	R -> K (in dbSNP:rs1057335).
P08697	451	451	P -> S (in dbSNP:rs57360598).
P02750	64	64	G -> S (in dbSNP:rs7251081).
P02750	133	133	P -> S (in dbSNP:rs966384).
P01023	639	639	D -> N (in dbSNP:rs226405).
P01023	704	704	R -> H (in dbSNP:rs1800434).
P01023	815	815	L -> Q (in dbSNP:rs3180392).
P01023	972	972	C -> Y (probably interferes with the activity; dbSNP:rs1800433).
P01023	1000	1000	I -> V (in dbSNP:rs669).
A8K2U0	207	207	G -> R (in dbSNP:rs11047499).
A8K2U0	850	850	E -> D (in dbSNP:rs1860926).
A8K2U0	970	970	C -> Y (in dbSNP:rs1558526).
A8K2U0	1131	1131	T -> M (in dbSNP:rs7959680).
A8K2U0	1229	1229	R -> H (in dbSNP:rs10219561).
A8K2U0	1412	1412	T -> A (in dbSNP:rs7315591).
O46203	45	45	D -> E (in strain: WS1, WS9, WS16, Zim5, Zim10, Zim24, Zim30, Zim32 and Zim35).
O46203	52	52	A -> D (in strain: 7, WS1, WS12, WS16, WS17, Zim10, Zim22, Zim32 and Zim35).
O46203	63	63	A -> T (in strain: 7, WS1, WS9, WS16, WS17 and Zim10).
O46203	69	69	L -> P (in strain: WS9 and WS19).
O46203	273	275	TRM -> PRT (in strain: WS9, Zim30 and Zim22).
O46203	275	275	M -> T (in strain: WS12, WS17 and WS26).
O46227	44	47	PCCM -> RVACK (in strain: ZIM30C).
Q9V3R1	148	148	N -> S (in strain: WSII16).
Q9V3R1	190	190	A -> V (in strain: WSII16).
Q9V3R1	198	198	T -> S (in strain: SENGWA2, SENGWA22, SENGWA29, SENGWA32, SENGWA37, SENGWA51, WSII19 and WSII49).
Q9V3R1	223	223	Missing (in strain: SENGWA22).
Q9V3R1	231	231	E -> G (in strain: WSII6).
Q9V3R1	253	253	Q -> QSQ (in strain: SENGWA2, SENGWA29, SENGWA32, SENGWA51, WSII19 and WSII49).
Q9V3R1	307	307	E -> G (in strain: WSII6).
Q9V3R1	316	316	I -> F (in strain: WSII16).
Q9V3R1	325	325	K -> T (in strain: SENGWA37).
Q9V3R1	335	335	S -> P (in strain: SENGWA30).
Q9V3R1	352	352	Q -> QLLREAQQK (in strain: SENGWA2, SENGWA22, SENGWA29, SENGWA30, SENGWA32, SENGWA37, SENGWA51, WSII16, WSII19 and WSII49).
Q9V3R1	385	385	F -> HQN (in strain: WSII1).
Q9V3R1	430	430	V -> I (in strain: WSII16).
Q9V3R1	464	464	L -> F (in strain: Canton-S, SENGWA2, SENGWA22, SENGWA29, SENGWA32 and SENGWA51).
Q9V3R1	496	496	E -> G (in strain: WSII6).
Q9V3R1	507	507	L -> V (in strain: SENGWA22, SENGWA29, SENGWA37 and SENGWA51).
Q9V3R1	575	575	L -> Q (in strain: WSII16).
Q9V3R1	601	601	S -> I (in strain: WSII26 and WSII49).
Q9V3R1	613	613	E -> K (in strain: SENGWA30).
Q9V3R1	650	650	P -> A (in strain: SENGWA22, SENGWA30 and WSII16).
Q9V3R1	666	666	L -> V (in strain: SENGWA29, SENGWA30, SENGWA37 and SENGWA51).
Q9V3R1	670	670	G -> E (in strain: SENGWA29, SENGWA30, SENGWA37 and SENGWA51).
Q9V3R1	758	758	T -> A (in strain: SENGWA37 and SENGWA51).
Q9V3R1	782	786	Missing (in strain: SENGWA37 and SENGWA51).
Q9V3R1	830	830	Q -> E (in strain: WSII26).
Q9V3R1	844	844	Q -> R (in strain: WSII16).
Q9NPC4	37	37	M -> V (in dbSNP:rs11541159).
Q9NPC4	80	80	Missing (in p individuals).
Q9NPC4	163	163	Q -> R (in dbSNP:rs28915383).
Q9NPC4	183	183	M -> K (in p individuals; complete loss of activity).
Q9NPC4	187	187	G -> D (in p individuals; partial loss of activity; dbSNP:rs28940572).
Q9NPC4	251	251	P -> L (in p individuals; complete loss of activity; dbSNP:rs28940571).
Q9UNA3	218	218	A -> D (in dbSNP:rs2246945).
Q9UCB6	501	501	E -> K (in dbSNP:rs45588932).
Q9UCB6	665	665	E -> D (in a patient with late onset Alzheimer disease).
Q9UCB6	670	671	KM -> NL (in AD1).
Q9UCB6	678	678	D -> N (in AD1).
Q9UCB6	692	692	A -> G (in AD1; Flemish mutation; increases the solubility of processed beta-amyloid peptides and increases the stability of peptide oligomers).
Q9UCB6	693	693	E -> G (in AD1).
Q9UCB6	693	693	E -> K (in AMYLCAIT).
Q9UCB6	693	693	E -> Q (in AMYLCAD).
Q9UCB6	694	694	D -> N (in AMYLCAIW).
Q9UCB6	705	705	L -> V (in AMYLCAIT).
Q9UCB6	713	713	A -> T (in AD1).
Q9UCB6	713	713	A -> V (in one chronic schizophrenia patient; could be a polymorphism; dbSNP:rs1800557).
Q9UCB6	714	714	T -> A (in AD1).
Q9UCB6	714	714	T -> I (in AD1; increased beta-APP42/ beta-APP40 ratio).
Q9UCB6	715	715	V -> M (in AD1; decreased beta-APP40/ total APP-beta).
Q9UCB6	716	716	I -> V (in AD1).
Q9UCB6	717	717	V -> F (in AD1).
Q9UCB6	717	717	V -> G (in AD1).
Q9UCB6	717	717	V -> I (in AD1).
Q9UCB6	717	717	V -> L (in AD1).
Q9UCB6	723	723	L -> P (in AD1).
O46199	7	7	T -> A (in strain: ZIM56).
O46199	14	14	A -> D (in strain: M47).
O46199	21	21	T -> L (in strain: M47).
O46199	22	22	E -> K (in strain: ZIM26 and ZIM42).
O46199	27	27	I -> V (in strain: ZIM56).
O46199	70	70	N -> K (in strain: M09 and WS9).
O46199	72	72	Y -> C (in strain: SFS 3.1).
O46199	83	83	V -> D (in strain: ZIM30).
O46199	108	108	Y -> C (in strain: ZIM2).
O46200	39	39	N -> S (in strain: SFS 3.4).
O46200	49	49	K -> N (in strain: Canton-S, NFS 5.1, NFS 5.2, NFS 5.3, NFS 5.4, NFS 6.1, NFS 6.2, NFS 6.3, NFS 6.4, NFS 7.8, SFS 1.1, SFS 1.2, SFS 1.3, SFS 1.4, SFS 2.2, SFS 2.3, SFS 2.4, SFS 3.1, SFS 3.2, SFS 3.3, SFS 3.4, Zim63H-12C, Zim63H-16C, Zim63H-28C, Zim63H-34C, Zim63I-10C, Zim63I-18C, Zim63I-53C and Zim63I-7C).
O46200	72	72	L -> V (in strain: Zim63H-16C, Zim63H-34C and Zim63I-7C).
O46200	73	74	HG -> MA (in strain: Zim63H-30C).
O46200	73	73	H -> Q (in strain: Zim63H-16C and Zim63H- 34C).
O46200	75	75	K -> E (in strain: Zim63H-16C).
O46200	76	76	P -> T (in strain: Zim63I-7C).
P05623	19	19	S -> A (in strain: Berkeley, M2, M26, M36, M40, M55 and SFS 3.4).
P05623	46	46	N -> I (in strain: SFS 3.4).
Q9VVW1	22	22	Q -> H (in strain: ZIM5C, ZIM10C, ZIM16C, ZIM18C, ZIM28C, ZIM30C, ZIM34C and ZIM53C).
Q9VVW1	22	22	Q -> P (in strain: ZIM7C and ZIM12C).
Q9VVW1	332	337	EVVDDI -> GKRNTR (in strain: ZIM28C).
Q9VVW1	338	338	D -> N (in strain: Canton-S and ZIM34C).
Q9VVW1	359	359	I -> V (in strain: Canton-S, ZIM12C and ZIM16C).
Q9VVW1	381	381	K -> M (in strain: ZIM5C and ZIM16C).
P30542	43	43	A -> S (in dbSNP:rs11547175).
P30542	50	50	S -> P (in dbSNP:rs11547174).
P30542	105	105	R -> H (in dbSNP:rs11547176).
P30542	170	170	E -> K (in a colorectal cancer sample; somatic mutation).
P30542	261	261	P -> Q (in dbSNP:rs17852405).
P29274	50	50	A -> V (in dbSNP:rs4530).
P29274	300	300	R -> H (in dbSNP:rs4990).
P29274	392	392	G -> R.
P33765	105	105	A -> T (in a colorectal cancer sample; somatic mutation).
P33765	248	248	I -> L (in dbSNP:rs35511654).
P33765	266	266	M -> K (in dbSNP:rs2800889).
Q9NS82	112	112	E -> D (in a family with cystinuria).
Q9NS82	413	413	R -> Q (in dbSNP:rs34663170).
P22760	281	281	I -> V (in dbSNP:rs1803155).
Q9NRG9	15	15	Q -> K (in AAAS).
Q9NRG9	108	108	K -> M (in dbSNP:rs13330).
Q9NRG9	160	160	H -> R (in AAAS).
Q9NRG9	263	263	S -> P (in AAAS).
Q15758	17	17	P -> A (in dbSNP:rs3027956).
Q15758	512	512	V -> L (in dbSNP:rs3027961).
Q7ATH7	182	182	N -> I (in plasmid pGTK3).
Q9HA19	118	118	I -> V (in dbSNP:rs12831803).
Q9HA19	470	470	A -> V (in dbSNP:rs59883951).
Q6NSC9	9	9	A -> T (in dbSNP:rs4934).
Q6NSC9	78	78	L -> P (in COPD; Bochum-1; dbSNP:rs1800463).
Q6NSC9	167	167	A -> G.
Q6NSC9	252	252	P -> A (in COPD; Bonn-1; dbSNP:rs17473).
Q6NSC9	267	267	K -> R (in dbSNP:rs17853314).
Q6NSC9	401	401	M -> V (associated with occlusive- cerebrovascular disease; Isehara-1).
Q6NSC9	407	407	D -> G (in dbSNP:rs10956).
Q8N5Z0	243	243	V -> I (in dbSNP:rs56350236).
Q6PD74	132	132	I -> L (in dbSNP:rs7173826).
Q2M2I8	59	59	I -> V (in dbSNP:rs34535244).
Q2M2I8	509	509	K -> Q (in dbSNP:rs6715776).
Q2M2I8	533	533	Q -> H.
Q2M2I8	603	603	V -> A (in dbSNP:rs56038532).
Q2M2I8	694	694	T -> M (in dbSNP:rs55889248).
Q2M2I8	725	725	P -> T (in dbSNP:rs35285785).
Q2M2I8	771	771	P -> R (in dbSNP:rs34422616).
Q2M2I8	835	835	G -> D.
P54619	89	89	T -> S (in dbSNP:rs1126930).
P54619	329	329	K -> N (in dbSNP:rs34210356).
Q9UGJ0	6	6	M -> L (in dbSNP:rs3207363).
Q9UGJ0	302	302	R -> Q (in WPWS and CMH-WPWS).
Q9UGJ0	350	350	R -> RL (in CMH-WPWS; severe).
Q9UGJ0	383	383	H -> R (in CMH-WPWS; severe).
Q9UGJ0	400	400	T -> N (in CMH-WPWS; severe; dbSNP:rs28938173).
Q9UGJ0	488	488	N -> I (in CMH-WPWS; severe).
Q9UGJ0	531	531	R -> G (in WPWS; absence of cardiac hypertrophy; onset in childhood).
Q9UGJ0	531	531	R -> Q (in GSDH; reduction of binding affinities for AMP and ATP; loss of cooperative binding; enhanced basal activity; increased phosphorylation of the alpha-subunit).
Q2LL38	127	127	A -> S (in strain: Charolais, Holstein and Limousin).
Q2LL38	153	153	W -> S (in strain: Charolais and Limousin).
Q2LL38	262	262	R -> W (in strain: Charolais, Holstein and Limousin).
Q2LL38	358	358	D -> Y (in strain: Charolais).
Q2LL38	373	373	T -> M (in strain: Limousin).
Q9UGI9	71	71	P -> A (in dbSNP:rs692243).
Q9UGI9	153	153	L -> V (in dbSNP:rs35050588).
Q9UGI9	340	340	R -> W (in dbSNP:rs33985460).
Q9MYP4	250	250	R -> Q (in RN-).
Q13685	250	250	I -> V (in dbSNP:rs2305835).
Q13131	10	10	M -> L (in dbSNP:rs17855679).
Q13131	16	16	Q -> R (in a breast cancer sample; somatic mutation).
P54646	371	371	P -> T (in breast cancer samples; infiltrating ductal carcinoma; somatic mutation).
P54646	407	407	R -> Q (in a gastric adenocarcinoma sample; somatic mutation).
P54646	523	523	S -> G (in a breast cancer sample; somatic mutation).
Q4LEZ3	96	96	G -> R (in dbSNP:rs16889283).
Q96A45	207	207	A -> P (in dbSNP:rs6438544).
Q96A45	253	253	S -> T (in dbSNP:rs9817771).
Q96A45	320	320	S -> C (in dbSNP:rs9819218).
P00505	2	2	A -> S (in dbSNP:rs11558171).
P00505	188	188	G -> S (in dbSNP:rs11076256).
P00505	346	346	G -> V (in dbSNP:rs30842).
P00505	428	428	V -> A (in dbSNP:rs17849335).
Q7Z5M8	282	282	I -> V (in a breast cancer sample; somatic mutation).
Q7Z5M8	334	334	F -> L (in dbSNP:rs7154732).
Q7Z5R6	404	404	T -> A (in dbSNP:rs34081356).
Q7Z5R6	617	617	A -> T (in dbSNP:rs7903226).
Q0VD83	419	419	A -> P (in dbSNP:rs180743).
P15450	52	52	G -> S.
P31941	19	19	T -> A (in dbSNP:rs17000556).
Q9UH17	62	62	K -> E (in dbSNP:rs2076109).
Q9UH17	98	98	P -> L (in dbSNP:rs2076110).
Q9UH17	109	109	S -> A (in dbSNP:rs17000697).
Q9UH17	146	146	T -> K (in dbSNP:rs5995649).
Q9UH17	351	351	R -> H (in dbSNP:rs1053813).
Q8IUX4	48	48	R -> P (in dbSNP:rs35053197).
Q8IUX4	61	61	Q -> L (in dbSNP:rs2076109).
Q8IUX4	97	97	P -> L (in dbSNP:rs2076110).
Q8IUX4	108	108	A -> S (in dbSNP:rs2020390).
Q8IUX4	178	178	A -> T (in dbSNP:rs34182094).
Q8IUX4	231	231	V -> I (in dbSNP:rs2076101).
Q8IUX4	307	307	Y -> C (in dbSNP:rs12157816).
Q9HC16	186	186	H -> R (in dbSNP:rs8177832).
Q9HC16	256	256	R -> H (in dbSNP:rs17000736).
Q9HC16	275	275	Q -> E (in dbSNP:rs17496046).
Q6NTF7	18	18	R -> L (in dbSNP:rs139293).
Q6NTF7	105	105	G -> R (in dbSNP:rs139297).
Q6NTF7	121	121	K -> E (in dbSNP:rs139298).
Q6NTF7	121	121	K -> N (in dbSNP:rs139299).
Q6NTF7	178	178	E -> D (in dbSNP:rs139302).
Q9UN09	85	85	P -> L (in HDLD2; Alabama).
Q9UN09	210	210	E -> D (in a colorectal cancer sample; somatic mutation).
Q9UN09	219	219	R -> K (common polymorphism; associated with a decreased severity of CAD; dbSNP:rs2230806).
Q9UN09	230	230	R -> C (in HDLD2; dbSNP:rs9282541).
Q9UN09	248	248	P -> A.
Q9UN09	255	255	A -> T (in HDLD1; deficient cellular cholesterol efflux).
Q9UN09	284	284	E -> K (in HDLD1).
Q9UN09	364	364	S -> C.
Q9UN09	399	399	V -> A (in dbSNP:rs9282543).
Q9UN09	401	401	K -> Q.
Q9UN09	482	482	Y -> C (in HDLD1).
Q9UN09	496	496	R -> W (associated with increased plasma HDL cholesterol).
Q9UN09	587	587	R -> W (in HDLD1; dbSNP:rs2853574).
Q9UN09	590	590	W -> L (in HDLD1).
Q9UN09	590	590	W -> S (in HDLD1).
Q9UN09	597	597	Q -> R (in HDLD1; dbSNP:rs2853578).
Q9UN09	638	638	R -> Q (associated with reduced plasma HDL cholesterol).
Q9UN09	693	693	Missing (in HDLD2).
Q9UN09	771	771	V -> M (associated with HDL cholesterol; dbSNP:rs2066718).
Q9UN09	774	774	T -> P (in dbSNP:rs35819696).
Q9UN09	774	774	T -> S.
Q9UN09	776	776	K -> N (associated with increased risk of ischemic heart disease).
Q9UN09	815	815	E -> G (associated with reduced plasma HDL cholesterol).
Q9UN09	825	825	V -> I (associated with higher plasma cholesterol; dbSNP:rs2066715).
Q9UN09	840	840	W -> R (in HDLD1).
Q9UN09	883	883	I -> M (associated with higher plasma cholesterol; dbSNP:rs2066714).
Q9UN09	917	917	D -> Y (in a colorectal cancer sample; somatic mutation).
Q9UN09	929	929	T -> I (in HDLD1).
Q9UN09	935	935	N -> H (in HDLD1; dbSNP:rs28937314).
Q9UN09	935	935	N -> S (in HDLD1; dbSNP:rs28937313).
Q9UN09	937	937	A -> V (in HDLD1).
Q9UN09	1046	1046	A -> D (in HDLD1).
Q9UN09	1054	1054	V -> I (in dbSNP:rs13306072).
Q9UN09	1065	1065	P -> S.
Q9UN09	1068	1068	R -> C (in HDLD1).
Q9UN09	1091	1091	M -> T (in HDLD2).
Q9UN09	1099	1099	D -> Y (in HDLD2; dbSNP:rs28933692).
Q9UN09	1172	1172	E -> D (associated with premature coronary heart disease; dbSNP:rs33918808).
Q9UN09	1181	1181	S -> F (associated with reduced plasma HDL cholesterol).
Q9UN09	1216	1216	G -> V.
Q9UN09	1289	1289	D -> N (in HDLD1).
Q9UN09	1341	1341	R -> T (associated with reduced plasma HDL cholesterol).
Q9UN09	1376	1376	S -> G.
Q9UN09	1379	1379	L -> F (in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane).
Q9UN09	1407	1407	A -> T (in a colorectal cancer sample; somatic mutation).
Q9UN09	1477	1477	C -> R (in HDLD1).
Q9UN09	1506	1506	S -> L (in HDLD1).
Q9UN09	1517	1517	I -> R (in HDLD1).
Q9UN09	1555	1555	T -> I (in dbSNP:rs1997618).
Q9UN09	1587	1587	R -> K (associated with HDL cholesterol; dbSNP:rs2230808).
Q9UN09	1611	1611	N -> D (associated with atherosclerosis; deficient cellular cholesterol efflux).
Q9UN09	1615	1615	R -> Q (associated with reduced plasma HDL cholesterol).
Q9UN09	1648	1648	P -> L (in dbSNP:rs1883024).
Q9UN09	1670	1670	A -> T (associated with reduced plasma HDL cholesterol).
Q9UN09	1680	1680	R -> Q (associated with increased plasma HDL cholesterol).
Q9UN09	1680	1680	R -> W (in HDLD1; clinical variant).
Q9UN09	1704	1704	V -> D (in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane).
Q9UN09	1731	1731	S -> C.
Q9UN09	1800	1800	N -> H (in HDLD1).
Q9UN09	1851	1851	R -> Q (in HDLD1).
Q9UN09	1893	1894	Missing (in HDLD2).
Q9UN09	1897	1897	R -> W (in HDLD2; uncertain pathogenicity).
Q9UN09	1901	1901	R -> S (in HDLD1).
Q9UN09	1925	1925	R -> Q (in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane).
Q9UN09	2009	2009	F -> S (in HDLD2).
Q9UN09	2081	2081	R -> W (in HDLD1).
Q9UN09	2109	2109	A -> T (in a colorectal cancer sample; somatic mutation).
Q9UN09	2150	2150	P -> L (in HDLD2).
Q9UN09	2163	2163	F -> S (could be associated with reduced plasma HDL cholesterol).
Q9UN09	2168	2168	P -> L (in dbSNP:rs2853577).
Q9UN09	2196	2196	Q -> H (in HDLD1).
Q9UN09	2243	2243	D -> E.
Q9UN09	2244	2244	V -> I (could be associated with reduced plasma HDL cholesterol).
Q9BZC7	583	583	H -> P (in dbSNP:rs908828).
Q9BZC7	674	674	F -> V (in dbSNP:rs2090625).
Q99758	101	101	L -> P (in SMDP3; dbSNP:rs28936412).
Q99758	140	140	N -> H (in dbSNP:rs45447801).
Q99758	290	290	L -> M (in a breast cancer sample; somatic mutation).
Q99758	568	568	N -> D (in SMDP3).
Q99758	766	766	P -> S (in dbSNP:rs45592239).
Q99758	801	801	E -> D (in a breast cancer sample; somatic mutation).
Q99758	1069	1069	H -> Q (in a breast cancer sample; somatic mutation).
Q99758	1553	1553	L -> P (in SMDP3).
Q99758	1591	1591	Q -> P (in SMDP3; dbSNP:rs28936691).
P78363	11	11	L -> P (in FFM).
P78363	13	15	Missing (in STGD1).
P78363	18	18	R -> W (in STGD1).
P78363	24	24	R -> H (in STGD1).
P78363	54	54	C -> Y (in STGD1).
P78363	58	58	N -> K (in STGD1).
P78363	60	60	A -> E (in STGD1).
P78363	60	60	A -> T (in STGD1).
P78363	60	60	A -> V (in STGD1).
P78363	65	65	G -> E (in STGD1 and CORD3).
P78363	68	68	P -> L (in STGD1).
P78363	68	68	P -> R (in STGD1).
P78363	72	72	G -> R (in STGD1).
P78363	75	75	C -> G (in STGD1).
P78363	77	77	V -> E (in STGD1).
P78363	96	96	N -> D (in STGD1).
P78363	96	96	N -> H (in STGD1).
P78363	100	100	S -> P (in STGD1).
P78363	152	152	R -> Q.
P78363	156	156	I -> V (in STGD1).
P78363	190	190	Q -> H (in STGD1).
P78363	192	192	A -> T (in STGD1).
P78363	206	206	S -> R (in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis).
P78363	212	212	R -> C (in STGD1 and CORD3; common mutation in southern Europe; reduced ATP- binding capacity).
P78363	212	212	R -> H (in dbSNP:rs6657239).
P78363	220	220	R -> C (in STGD1).
P78363	224	224	T -> M (in a breast cancer sample; somatic mutation).
P78363	230	230	C -> S (in STGD1).
P78363	244	244	L -> P (in STGD1).
P78363	247	247	N -> S (in STGD1).
P78363	249	249	D -> G (in STGD1).
P78363	300	300	T -> N (in STGD1).
P78363	309	309	P -> R (in STGD1).
P78363	328	328	E -> V (in STGD1).
P78363	333	333	R -> W (in STGD1).
P78363	336	336	S -> C (in STGD1).
P78363	339	339	W -> G (in FFM).
P78363	340	340	Y -> D (in STGD1).
P78363	380	380	N -> K (in STGD1).
P78363	407	407	A -> V (in STGD1 and CORD3).
P78363	423	423	H -> R (in dbSNP:rs3112831).
P78363	445	445	S -> R (in STGD1).
P78363	471	471	E -> K (in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type; dbSNP:rs1800548).
P78363	523	523	D -> E (in STGD1).
P78363	525	525	F -> C (in STGD1).
P78363	537	537	R -> C (in STGD1).
P78363	541	541	L -> P (in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal- stimulated ATP hydrolysis).
P78363	549	549	A -> P (in STGD1).
P78363	550	550	G -> R (in STGD1).
P78363	552	552	V -> I.
P78363	572	572	R -> P (in STGD1).
P78363	572	572	R -> Q (in STGD1).
P78363	602	602	R -> Q (in STGD1).
P78363	602	602	R -> W (in STGD1).
P78363	607	607	G -> R (in STGD1).
P78363	607	607	G -> W (in STGD1).
P78363	608	608	F -> I (in STGD1).
P78363	635	635	Q -> K (in STGD1).
P78363	636	636	Q -> H (in STGD1).
P78363	643	643	V -> G.
P78363	643	643	V -> M (in STGD1).
P78363	645	645	D -> N (in STGD1).
P78363	653	653	R -> C (in STGD1).
P78363	686	686	L -> S (in STGD1).
P78363	716	716	T -> M (in STGD1).
P78363	752	752	S -> I (in dbSNP:rs1801369).
P78363	764	764	C -> Y (in STGD1).
P78363	765	765	S -> N (in STGD1).
P78363	765	765	S -> R (in STGD1).
P78363	767	767	V -> D (in STGD1).
P78363	797	797	L -> P (in STGD1).
P78363	818	818	G -> E (in ARMD2 and STGD1; reduced ATP- binding capacity).
P78363	821	821	W -> R (in STGD1).
P78363	824	824	I -> T (in STGD1).
P78363	846	846	D -> H.
P78363	849	849	V -> A (in STGD1).
P78363	851	851	G -> D (in STGD1; highly reduced ATP- binding capacity).
P78363	854	854	A -> T (in STGD1).
P78363	863	863	G -> A (in STGD1, FFM and CORD3; frequent mutation in northern Europe in linkage disequilibrium with the polymorphic variant Q-943; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis).
P78363	863	863	Missing (in STGD1 and CORD3; reduced ATP- binding capacity and retinal-stimulated ATP hydrolysis).
P78363	873	873	F -> L (in STGD1).
P78363	897	897	T -> I (in STGD1).
P78363	901	901	T -> A.
P78363	914	914	H -> R.
P78363	931	931	V -> M (in STGD1).
P78363	935	935	V -> A (in STGD1).
P78363	943	943	R -> Q (in linkage disequilibrium with A- 863 in the European population; dbSNP:rs1801581).
P78363	943	943	R -> W (in STGD1 and FFM).
P78363	957	957	Q -> R (in STGD1).
P78363	959	959	T -> I (in STGD1).
P78363	965	965	N -> S (in STGD1; reduced retinal- stimulated ATP hydrolysis).
P78363	971	971	T -> N (in STGD1; highly reduced ATP- binding capacity; abolishes retinal- stimulated ATP hydrolysis).
P78363	972	972	T -> N (in STGD1; could be a rare polymorphism).
P78363	974	974	S -> P (in STGD1).
P78363	978	978	G -> C (in STGD1).
P78363	989	989	V -> A (in STGD1).
P78363	991	991	G -> R (in FFM).
P78363	1014	1014	L -> R (in STGD1).
P78363	1019	1019	T -> A (in STGD1).
P78363	1019	1019	T -> M (in STGD1).
P78363	1022	1022	E -> K (in STGD1).
P78363	1031	1031	K -> E (in STGD1).
P78363	1036	1036	E -> K (in STGD1).
P78363	1038	1038	A -> V (in STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis).
P78363	1055	1055	R -> W (in STGD1).
P78363	1063	1063	S -> P (in STGD1).
P78363	1071	1071	S -> L (in STGD1; reduced ATP-binding capacity).
P78363	1072	1072	V -> A (in STGD1).
P78363	1087	1087	E -> D (in STGD1).
P78363	1087	1087	E -> K (in STGD1).
P78363	1091	1091	G -> E (in FFM).
P78363	1097	1097	R -> C (in STGD1).
P78363	1108	1108	R -> C (in STGD1 and FFM; reduced ATP- binding capacity).
P78363	1108	1108	R -> H (in STGD1).
P78363	1108	1108	R -> L (in STGD1).
P78363	1112	1112	T -> N (in STGD1).
P78363	1122	1122	E -> K (in STGD1 and CORD3).
P78363	1129	1129	R -> C (in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine).
P78363	1129	1129	R -> L (in ARMD2, STGD1 and FFM; reduced ATP-binding capacity; dbSNP:rs1801269).
P78363	1148	1148	K -> T.
P78363	1201	1201	L -> R (in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine).
P78363	1204	1204	D -> N (in STGD1).
P78363	1250	1250	L -> P (in STGD1).
P78363	1253	1253	T -> M (in FFM; could be a rare polymorphism).
P78363	1300	1300	R -> Q (in STGD1).
P78363	1314	1314	P -> T.
P78363	1380	1380	P -> L (in STGD1; reduced ATP-binding capacity).
P78363	1388	1388	L -> P (in STGD1).
P78363	1399	1399	E -> K (in STGD1).
P78363	1406	1406	H -> Y (in STGD1).
P78363	1408	1408	W -> L (in STGD1).
P78363	1408	1408	W -> R (in STGD1; reduced retinal- stimulated ATP hydrolysis).
P78363	1428	1428	T -> M (in ARMD2; dbSNP:rs1800549).
P78363	1429	1429	V -> A (in STGD1).
P78363	1430	1430	L -> P (in STGD1).
P78363	1433	1433	V -> I (in STGD1).
P78363	1439	1439	G -> D (in STGD1).
P78363	1440	1440	F -> S (in STGD1).
P78363	1440	1440	F -> V (in STGD1).
P78363	1443	1443	R -> H (in STGD1).
P78363	1486	1486	P -> L (in STGD1).
P78363	1488	1488	C -> F (in STGD1).
P78363	1488	1488	C -> R (in STGD1 and FFM; reduced retinal-stimulated ATP hydrolysis).
P78363	1488	1488	C -> Y (in STGD1).
P78363	1490	1490	C -> Y (in STGD1 and CORD3; reduced retinal-stimulated ATP hydrolysis).
P78363	1508	1508	G -> C (in FFM).
P78363	1513	1513	Q -> R (in STGD1).
P78363	1517	1517	R -> S (in ARMD2; dbSNP:rs1800550).
P78363	1525	1525	L -> P (in STGD1).
P78363	1526	1526	T -> M (in STGD1; reduced retinal- stimulated ATP hydrolysis).
P78363	1532	1532	D -> N (in STGD1).
P78363	1537	1537	T -> M (in STGD1).
P78363	1562	1562	I -> T (in STGD1, FFM, ARMD2 and CORD3; dbSNP:rs1762111).
P78363	1578	1578	G -> R (in ARMD2; dbSNP:rs1800551).
P78363	1598	1598	A -> D (in CORD3).
P78363	1631	1631	L -> P (in STGD1).
P78363	1637	1637	A -> T (rare polymorphism).
P78363	1640	1640	R -> Q (in STGD1, FFM and CORD3).
P78363	1640	1640	R -> W (in STGD1 and CORD3).
P78363	1652	1652	Y -> D (in STGD1).
P78363	1681	1685	Missing (in STGD1; highly reduced ATP- binding capacity).
P78363	1689	1689	S -> P (in STGD1).
P78363	1693	1693	V -> I (in STGD1).
P78363	1696	1696	S -> N (in STGD1).
P78363	1703	1703	Q -> K (in STGD1).
P78363	1705	1705	R -> L (in STGD1).
P78363	1729	1729	L -> P (in STGD1).
P78363	1733	1733	M -> T (in STGD1).
P78363	1736	1736	S -> P (in STGD1).
P78363	1748	1748	G -> R (in STGD1).
P78363	1761	1763	Missing (in STGD1; highly reduced ATP- binding capacity).
P78363	1763	1763	L -> P (in STGD1).
P78363	1776	1776	P -> L (in STGD1).
P78363	1780	1780	P -> A (in STGD1).
P78363	1794	1794	A -> D (in STGD1).
P78363	1799	1799	N -> D (in STGD1).
P78363	1805	1805	N -> D (in STGD1).
P78363	1817	1817	E -> D.
P78363	1820	1820	R -> P (in STGD1).
P78363	1838	1838	H -> Y (in STGD1).
P78363	1843	1843	R -> W (in STGD1).
P78363	1846	1846	I -> T.
P78363	1868	1868	N -> I (slightly reduced retinal- stimulated ATP hydrolysis; dbSNP:rs1801466).
P78363	1884	1884	V -> E (in STGD1).
P78363	1885	1885	E -> K (in STGD1).
P78363	1886	1886	G -> E (in STGD1; highly reduced ATP- binding capacity).
P78363	1890	1890	Missing (in STGD1).
P78363	1896	1896	V -> D (in STGD1).
P78363	1898	1898	R -> H (in STGD1 and ARMD2; dbSNP:rs1800552).
P78363	1921	1921	V -> M.
P78363	1940	1940	L -> P (in STGD1 and FFM).
P78363	1948	1948	P -> L.
P78363	1961	1961	G -> E (in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal; dbSNP:rs1800553).
P78363	1970	1970	L -> F (in ARMD2 and FFM; dbSNP:rs1800554).
P78363	1971	1971	L -> R (in FFM; highly reduced ATP- binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis).
P78363	1975	1975	G -> R (in STGD1).
P78363	1977	1977	G -> S (in STGD1; highly reduced ATP- binding capacity; inhibition of ATP hydrolysis by retinal).
P78363	2027	2027	L -> F (in STGD1 and FFM; highly reduced ATP-binding capacity).
P78363	2030	2030	R -> Q (in STGD1 and FFM).
P78363	2035	2035	L -> P (in STGD1).
P78363	2038	2038	R -> W (in STGD1; highly reduced ATP- binding capacity).
P78363	2050	2050	V -> L (in STGD1).
P78363	2059	2059	G -> A.
P78363	2060	2060	L -> R (in CORD3).
P78363	2071	2071	Y -> F (in STGD1).
P78363	2077	2077	R -> G (in STGD1).
P78363	2077	2077	R -> W (in STGD1; highly reduced ATP- binding capacity).
P78363	2096	2096	E -> K (in STGD1; inhibition of ATP hydrolysis by retinal).
P78363	2106	2106	R -> C (in STGD1 and FFM; reduced ATP- binding capacity).
P78363	2107	2107	R -> C (in STGD1).
P78363	2107	2107	R -> H (in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine).
P78363	2128	2128	H -> R (in STGD1).
P78363	2131	2131	E -> K (in STGD1).
P78363	2139	2139	R -> W (in STGD1).
P78363	2146	2146	G -> D (in CORD3).
P78363	2149	2149	R -> L (in STGD1).
P78363	2150	2150	C -> R (in STGD1).
P78363	2150	2150	C -> Y (in STGD1 and CORD3).
P78363	2160	2160	K -> R (in STGD1).
P78363	2177	2177	D -> N (may be associated with ARMD2; increased retinal-stimulated ATP hydrolysis; dbSNP:rs1800555).
P78363	2216	2216	A -> V.
P78363	2229	2229	L -> P (in STGD1).
P78363	2241	2241	L -> V (in STGD1).
P78363	2255	2255	S -> I (in dbSNP:rs6666652).
P78363	2263	2263	R -> L (in STGD1).
Q8WWZ7	93	93	Q -> K (in dbSNP:rs12383).
Q8WWZ7	178	178	A -> T (in dbSNP:rs11544715).
Q8WWZ7	484	484	Q -> R (in dbSNP:rs17686569).
Q8WWZ7	753	753	M -> V (in dbSNP:rs9898003).
Q8WWZ7	832	832	A -> S (in dbSNP:rs536009).
Q8WWZ7	960	960	M -> V (in dbSNP:rs557491).
Q8WWZ7	1260	1260	D -> G (in dbSNP:rs11544716).
Q8N139	282	282	V -> I (in dbSNP:rs4968839).
Q8N139	610	610	N -> Y (in dbSNP:rs9282554).
Q8N139	698	698	M -> I (in dbSNP:rs9282553).
Q8N139	875	875	M -> I (in dbSNP:rs7212506).
Q8N139	1322	1322	N -> S (in dbSNP:rs2302134).
Q8IZY2	188	188	E -> G (in dbSNP:rs3764645).
Q8IZY2	319	319	T -> A (in dbSNP:rs3752232).
Q8IZY2	395	395	H -> R (in dbSNP:rs3764647).
Q8IZY2	463	463	R -> H (in dbSNP:rs3752233).
Q8IZY2	676	676	A -> T (in dbSNP:rs59851484).
Q8IZY2	718	718	N -> T (in dbSNP:rs3752239).
Q8IZY2	1349	1349	R -> Q (in dbSNP:rs3745842).
Q8IZY2	1527	1527	G -> A (in dbSNP:rs3752246).
Q8IZY2	1686	1686	Q -> R (in dbSNP:rs4147918).
Q8IZY2	2045	2045	A -> S (in dbSNP:rs4147934).
O94911	256	256	T -> A (in dbSNP:rs16973446).
O94911	331	331	G -> S (in dbSNP:rs4147979).
O94911	416	416	A -> V (in dbSNP:rs35621847).
O94911	489	489	Y -> F (in dbSNP:rs12150510).
O94911	619	619	L -> R (in dbSNP:rs35844316).
O94911	680	680	C -> G (in dbSNP:rs16973424).
O94911	1430	1430	G -> S (in dbSNP:rs35403175).
Q8IUA7	353	353	R -> H (in dbSNP:rs1860447).
Q8IUA7	785	785	N -> S (in dbSNP:rs17684521).
Q8IUA7	1306	1306	K -> T (in dbSNP:rs2302294).
Q8IUA7	1356	1356	G -> S (in dbSNP:rs9916254).
Q8WWZ4	203	203	P -> S (in dbSNP:rs9909216).
Q8WWZ4	287	287	I -> V (in dbSNP:rs11657804).
Q8WWZ4	916	916	M -> T (in dbSNP:rs4968849).
Q8WWZ4	1322	1322	R -> W (in dbSNP:rs10491178).
Q86UK0	199	199	W -> C (in dbSNP:rs16853238).
Q86UK0	237	237	N -> H (in dbSNP:rs11890512).
Q86UK0	274	274	Q -> R (in dbSNP:rs11890468).
Q86UK0	287	287	R -> G (in dbSNP:rs11891778).
Q86UK0	459	459	S -> T (in dbSNP:rs7560008).
Q86UK0	476	476	A -> V (in a pancreatic ductal adenocarcinoma sample; somatic mutation).
Q86UK0	550	550	E -> G (in dbSNP:rs16853149).
Q86UK0	777	777	S -> T (in dbSNP:rs7560008).
Q86UK0	1251	1251	G -> D (in dbSNP:rs13414448).
Q86UK0	1380	1380	N -> S (in LI2; dbSNP:rs28940269).
Q86UK0	1381	1381	G -> E (in LI2; dbSNP:rs28940268).
Q86UK0	1514	1514	R -> H (in LI2; dbSNP:rs28940270).
Q86UK0	1539	1539	E -> K (in LI2; dbSNP:rs28940271).
Q86UK0	1546	1546	R -> C (in dbSNP:rs13401480).
Q86UK0	1651	1651	G -> S (in LI2; dbSNP:rs28940568).
Q86UK0	2064	2064	E -> K (in dbSNP:rs1213011).
Q86UK0	2365	2365	D -> N (in HI; dbSNP:rs726070).
Q86UQ4	506	506	P -> L (in dbSNP:rs1880738).
Q86UQ4	555	555	R -> H (in dbSNP:rs2361519).
Q86UQ4	767	767	I -> S (in dbSNP:rs17712293).
Q86UQ4	799	799	E -> K (in dbSNP:rs17547816).
Q86UQ4	1434	1434	I -> V (in dbSNP:rs17132195).
Q86UQ4	1508	1508	T -> I (in dbSNP:rs6583483).
Q86UQ4	1540	1540	F -> L (in dbSNP:rs17712299).
Q86UQ4	1889	1889	I -> K (in dbSNP:rs17132197).
Q86UQ4	2033	2033	N -> D (in dbSNP:rs17661364).
Q86UQ4	2154	2154	S -> L (in dbSNP:rs17092911).
Q86UQ4	2178	2178	A -> E (in dbSNP:rs1880736).
Q86UQ4	2212	2212	L -> S (in dbSNP:rs17132198).
Q86UQ4	2436	2436	K -> R (in dbSNP:rs17132206).
Q86UQ4	2537	2537	S -> A (in dbSNP:rs17132208).
Q86UQ4	2674	2674	R -> W (in dbSNP:rs2222648).
Q86UQ4	3142	3142	A -> V (in dbSNP:rs3931814).
Q86UQ4	3851	3851	Y -> F (in dbSNP:rs17132289).
Q86UQ4	4277	4277	N -> D (in dbSNP:rs4917152).
Q86UQ4	4302	4302	Q -> R (in dbSNP:rs4917153).
Q86UQ4	4335	4335	P -> A (in dbSNP:rs17132370).
Q8IXA1	115	115	K -> E (in dbSNP:rs2301641).
Q8IXA1	224	224	K -> R (in dbSNP:rs13222448).
Q8IXA1	230	230	E -> V (in a colorectal cancer sample; somatic mutation).
Q8IXA1	435	435	A -> T (in a pancreatic ductal adenocarcinoma sample; somatic mutation).
Q8IXA1	460	460	Q -> H (in dbSNP:rs35885925).
Q8IXA1	470	470	A -> T (in dbSNP:rs17143304).
Q8IXA1	525	525	K -> E (in dbSNP:rs6461515).
Q9NP58	69	69	R -> G (in a breast cancer sample; somatic mutation).
Q9NP58	293	293	L -> V (in dbSNP:rs13018440).
Q9NP58	343	343	R -> Q (in dbSNP:rs60322991).
Q9NP58	648	648	R -> Q (in dbSNP:rs13402964).
O75027	315	315	R -> G.
O75027	346	346	F -> I.
O75027	400	400	I -> M (in ASAT).
O75027	411	411	V -> L (in ASAT).
O75027	433	433	E -> K (in ASAT; impaired maturation of cytosolic Fe/S proteins).
O75027	580	580	A -> V (in dbSNP:rs1340989).
O75027	581	581	V -> A (in dbSNP:rs1340989).
Q9NUT2	152	152	V -> I.
Q9NUT2	165	165	I -> T (in a breast cancer sample; somatic mutation).
Q9NUT2	690	690	A -> G (in a breast cancer sample; somatic mutation).
Q9NP78	121	121	V -> M (in dbSNP:rs3803002).
Q9NRK6	150	150	A -> S (in dbSNP:rs4148756).
Q9NRK6	242	242	R -> G (in dbSNP:rs17584642).
Q9NRK6	471	471	R -> T (in a breast cancer sample; somatic mutation).
Q9NRK6	545	545	D -> N (in dbSNP:rs35698797).
O95342	56	56	S -> L (in dbSNP:rs11568361).
O95342	186	186	E -> G (in BRIC2).
O95342	206	206	I -> V (in dbSNP:rs11568357).
O95342	238	238	G -> V (in PFIC2).
O95342	284	284	V -> A.
O95342	284	284	V -> L (in PFIC2).
O95342	297	297	E -> G (in PFIC2 and BRIC2; reduced transport capacity for taurocholate).
O95342	299	299	R -> K (in dbSNP:rs2287617).
O95342	336	336	C -> S (in PFIC2).
O95342	415	415	R -> Q.
O95342	432	432	R -> T (in BRIC2; reduced transport capacity for taurocholate).
O95342	444	444	V -> A (more frequent in patients with drug-induced cholestasis than healthy controls; associated with lower hepatic expression; does not affect transport capacity for taurocholate; dbSNP:rs2287622).
O95342	444	444	V -> D (in dbSNP:rs2287622).
O95342	444	444	V -> G (in dbSNP:rs2287622).
O95342	461	461	K -> E (in PFIC2).
O95342	482	482	D -> G (in PFIC2).
O95342	570	570	A -> T (in BRIC2).
O95342	591	591	N -> S (in a patient with intrahepatic cholestasis of pregnancy).
O95342	616	616	R -> G.
O95342	619	619	T -> A.
O95342	676	676	D -> Y (in fluvastatin-induced cholestasis; does not affect transport capacity for taurocholate).
O95342	677	677	M -> V (does not affect transport capacity for taurocholate; dbSNP:rs11568364).
O95342	698	698	R -> H.
O95342	855	855	G -> R (in ethinylestradiol/gestodene- induced cholestasis; loss of transport capacity for taurocholate).
O95342	865	865	A -> V.
O95342	923	923	T -> P (in BRIC2).
O95342	926	926	A -> P (in BRIC2).
O95342	958	958	R -> Q.
O95342	982	982	G -> R (in PFIC2).
O95342	1004	1004	G -> D (in PFIC2).
O95342	1050	1050	R -> C (in BRIC2).
O95342	1128	1128	R -> H (in BRIC2).
O95342	1153	1153	R -> C (in PFIC2).
O95342	1186	1186	E -> K (in dbSNP:rs1521808).
O95342	1268	1268	R -> Q (in PFIC2).
Q09428	7	7	G -> R (in HHF1).
Q09428	21	21	V -> D (in HHF1).
Q09428	27	27	F -> S (in HHF1).
Q09428	70	70	G -> E (in HHF1; altered intracellular trafficking).
Q09428	74	74	R -> Q (in HHF1).
Q09428	74	74	R -> W (in HHF1).
Q09428	86	86	V -> A (in PNDM).
Q09428	104	104	L -> V (in dbSNP:rs10400391).
Q09428	111	111	G -> R (in HHF1; altered intracellular trafficking).
Q09428	116	116	A -> P (in HHF1).
Q09428	125	125	H -> Q (in HHF1; mild; dbSNP:rs60637558).
Q09428	132	132	F -> L (in PNDM; with neurologic features; reduces the sensitivity of the K(ATP) channel to inhibition by MgATP; increases whole-cell K(ATP) current).
Q09428	187	187	V -> D (in HHF1; severe; high prevalence in Finland; loss of channel activity).
Q09428	188	188	N -> S (in HHF1; severe).
Q09428	213	213	L -> R (in PNDM).
Q09428	233	233	M -> R (in HHF1).
Q09428	275	275	R -> Q.
Q09428	310	310	D -> N (in HHF1).
Q09428	406	406	N -> D (in HHF1).
Q09428	418	418	C -> R (in HHF1).
Q09428	435	435	C -> R (in TNDM2).
Q09428	495	495	R -> Q (in HHF1).
Q09428	501	501	E -> K (in HHF1).
Q09428	503	503	L -> P (in HHF1).
Q09428	508	508	L -> P (in HHF1).
Q09428	551	551	P -> R (in HHF1).
Q09428	560	560	V -> M (in dbSNP:rs4148619).
Q09428	582	582	L -> V (in TNDM2).
Q09428	591	591	F -> L (in HHF1).
Q09428	620	620	R -> C (in HHF1; dbSNP:rs58241708).
Q09428	673	673	D -> N.
Q09428	686	686	F -> S (in HHF1).
Q09428	716	716	G -> V (in HHF1).
Q09428	719	719	K -> T (in HHF1).
Q09428	810	810	D -> N.
Q09428	834	834	R -> C.
Q09428	841	841	R -> G (in HHF1).
Q09428	889	889	K -> T (in HHF1).
Q09428	956	956	S -> F (in HHF1).
Q09428	1023	1023	H -> Y (in TNDM2; overactive channel).
Q09428	1130	1130	T -> P (in HHF1).
Q09428	1138	1138	T -> M (in HHF1).
Q09428	1147	1147	L -> R (in HHF1).
Q09428	1182	1182	R -> Q (in TNDM2).
Q09428	1214	1214	R -> Q (in HHF1; severe).
Q09428	1214	1214	R -> W (in HHF1).
Q09428	1295	1295	N -> K (in HHF1).
Q09428	1336	1336	K -> N (in HHF1).
Q09428	1342	1342	G -> E (in HHF1; altered intracellular trafficking).
Q09428	1349	1349	L -> Q (in HHF1).
Q09428	1352	1352	R -> H (in LIH; partially impairs ATP- dependent potassium channel function).
Q09428	1352	1352	R -> P (in HHF1; dbSNP:rs28936370).
Q09428	1360	1360	V -> G.
Q09428	1360	1360	V -> M (in HHF1).
Q09428	1369	1369	S -> A (common polymorphism; dbSNP:rs757110).
Q09428	1378	1378	G -> R (in HHF1).
Q09428	1379	1379	R -> C (in TNDM2).
Q09428	1381	1381	G -> S (in HHF1).
Q09428	1384	1384	K -> Q (in HHF1).
Q09428	1385	1385	Missing (in HHF1; does not alter surface expression but channels are not functional).
Q09428	1386	1386	S -> F (in HHF1).
Q09428	1387	1387	Missing (in HHF1; severe; high frequency in Ashkenazi Jewish patients; defective trafficking and lack of surface expression).
Q09428	1393	1393	R -> H (in HHF1; severe; loss of channel activity).
Q09428	1400	1400	G -> R (in HHF1).
Q09428	1418	1418	R -> H (in HHF1; altered intracellular trafficking).
Q09428	1420	1420	R -> C (in HHF1; modest impairment of channel function; dbSNP:rs28938469).
Q09428	1424	1424	I -> V (in PNDM; overactive channel).
Q09428	1436	1436	R -> Q (in HHF1; cannot form a functional channel, due to protein instability or defective transport to the membrane).
Q09428	1450	1450	L -> P (in HHF1).
Q09428	1457	1457	A -> T (in HHF1).
Q09428	1471	1471	D -> H (in HHF1).
Q09428	1471	1471	D -> N (in HHF1).
Q09428	1478	1478	G -> R (in HHF1; channels insensitive to metabolic inhibition and to activation by ADP).
Q09428	1486	1486	R -> K (in HHF1).
Q09428	1493	1493	R -> Q (in HHF1).
Q09428	1493	1493	R -> W (in HHF1; altered intracellular trafficking; dbSNP:rs28936371).
Q09428	1506	1506	E -> K (in HHF1; mild; dominantly inherited; channels insensitive to metabolic inhibition and to activation by ADP).
Q09428	1507	1507	A -> AAS (in HHF1).
Q09428	1543	1543	L -> P (in HHF1; reduced channels surface expression and response to ADP).
Q09428	1550	1550	V -> D (in HHF1).
Q09428	1551	1551	L -> V (in HHF1).
Q09428	1572	1572	V -> I (in dbSNP:rs8192690).
O60706	1108	1108	P -> S (in dbSNP:rs35404804).
O60706	1513	1513	A -> T (in CMD1O).
Q96J66	19	19	R -> H (in dbSNP:rs16945988).
Q96J66	180	180	G -> R (in dry earwax phenotype; reduced transport activity; dbSNP:rs17822931).
Q96J66	317	317	A -> E (in dbSNP:rs11863236).
Q96J66	546	546	T -> M (in dbSNP:rs17822471).
Q96J66	648	648	V -> I (in dbSNP:rs16945930).
Q96J66	687	687	V -> I (in dbSNP:rs16945928).
Q96J66	735	735	K -> R (in dbSNP:rs16945926).
Q96J66	1344	1344	H -> R (in dbSNP:rs16945916).
Q9NSE7	228	228	S -> N (in dbSNP:rs2822558).
P33897	13	13	N -> T (very rare polymorphism; does not affect ALDP function).
P33897	88	88	C -> W (in X-ALD).
P33897	90	90	E -> K (in X-ALD).
P33897	98	98	S -> L (in X-ALD; CALD type).
P33897	99	99	A -> D (in X-ALD; AMN-type).
P33897	103	103	S -> R (in X-ALD).
P33897	104	104	R -> C (in X-ALD).
P33897	104	104	R -> H (in X-ALD; ADO-type).
P33897	105	105	T -> I (in X-ALD; ADO-type).
P33897	105	105	T -> P (in X-ALD).
P33897	107	107	L -> P (in X-ALD; ALD/AMN/ADO-types and asymptomatic).
P33897	108	108	S -> L (in X-ALD).
P33897	108	108	S -> W (in X-ALD; CALD and AMN-types).
P33897	113	113	R -> C (in X-ALD).
P33897	113	113	R -> P (in X-ALD).
P33897	116	116	G -> R (in X-ALD; CALD-type).
P33897	138	141	Missing (in X-ALD; ALD-type).
P33897	141	141	A -> T (in X-ALD).
P33897	143	143	P -> S (in X-ALD).
P33897	148	148	N -> S (in X-ALD; ADO-type).
P33897	149	149	S -> N (in X-ALD).
P33897	152	152	R -> C (in X-ALD; ADO-type).
P33897	152	152	R -> L (in X-ALD).
P33897	152	152	R -> P (in X-ALD).
P33897	152	152	R -> S (in X-ALD).
P33897	161	161	S -> P (in X-ALD).
P33897	163	163	R -> H (in X-ALD).
P33897	163	163	R -> P (in X-ALD).
P33897	174	174	Y -> C (in X-ALD).
P33897	174	174	Y -> D (in X-ALD; ALD-type).
P33897	174	174	Y -> S (in X-ALD; CALD-type).
P33897	178	178	Q -> E (in X-ALD; AMN-type).
P33897	181	181	Y -> C (in X-ALD; ALMD-type).
P33897	182	182	R -> P (in X-ALD).
P33897	189	189	R -> W (in X-ALD).
P33897	190	190	L -> P (in X-ALD).
P33897	194	194	D -> H (in X-ALD).
P33897	198	198	T -> K (in X-ALD).
P33897	200	200	D -> N (in X-ALD).
P33897	200	200	D -> V (in X-ALD; CALD-type).
P33897	207	207	S -> SAAS (in X-ALD).
P33897	211	211	L -> P (in X-ALD).
P33897	213	213	S -> C (in X-ALD).
P33897	214	214	N -> D (in X-ALD).
P33897	217	217	K -> E (in X-ALD).
P33897	218	218	P -> T (in X-ALD).
P33897	220	220	L -> P (in X-ALD).
P33897	221	221	D -> G (in X-ALD; CALD and AMN-types).
P33897	224	224	V -> E (in X-ALD).
P33897	229	229	L -> P (in X-ALD).
P33897	254	254	T -> M (in X-ALD; AMN-type).
P33897	254	254	T -> P (in X-ALD; AMN-type).
P33897	263	263	P -> L (in X-ALD; CALD, AMN and AD- types).
P33897	266	266	G -> R (in X-ALD).
P33897	271	271	E -> K (in X-ALD).
P33897	274	274	R -> W (in X-ALD).
P33897	276	276	K -> E (in X-ALD; CALD-type).
P33897	277	277	G -> GN (in X-ALD; ADO-type).
P33897	277	277	G -> R (in X-ALD; AMN-type).
P33897	277	277	G -> W (in X-ALD).
P33897	280	280	R -> C (in X-ALD).
P33897	285	285	R -> P (in X-ALD).
P33897	291	291	E -> D (in X-ALD; ACALD and CALD-types).
P33897	291	291	E -> K (in X-ALD).
P33897	291	291	Missing (in X-ALD; ALD-type).
P33897	294	294	A -> T (in X-ALD; AMN-type).
P33897	296	296	Y -> C (in X-ALD).
P33897	298	298	G -> D (in X-ALD).
P33897	300	300	E -> EVGQ (in X-ALD).
P33897	302	302	E -> K (in X-ALD).
P33897	322	322	L -> P (in X-ALD).
P33897	336	336	K -> M (in X-ALD).
P33897	339	339	W -> R (in X-ALD).
P33897	342	342	S -> P (in X-ALD; AMN-type).
P33897	343	343	G -> D (in X-ALD).
P33897	343	343	G -> S (in X-ALD).
P33897	389	389	R -> G (in X-ALD; AMN-type).
P33897	389	389	R -> H (in X-ALD; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70).
P33897	401	401	R -> Q (in X-ALD; ALD and AMN-types; does not affect protein stability, homo- and heterodimerization with ALDR and PMP70).
P33897	401	401	R -> W (in X-ALD).
P33897	418	418	R -> W (in X-ALD; AMN-type).
P33897	427	427	Missing (in X-ALD).
P33897	484	484	P -> R (in X-ALD; CALD, AMN and ADO- types; significantly decreases homodimerization and abolishes heterodimerization with ALDR and PMP70).
P33897	503	503	L -> P (in X-ALD).
P33897	507	507	G -> V (in X-ALD; CALD-types).
P33897	512	512	G -> S (in X-ALD; CALD and AS-types; reduced ATPase activity).
P33897	514	514	S -> R (in X-ALD).
P33897	515	515	S -> F (in X-ALD).
P33897	518	518	R -> Q (in X-ALD; CALD-type).
P33897	518	518	R -> W (in X-ALD; CALD-type).
P33897	522	522	G -> W (in X-ALD; AD-type).
P33897	528	528	Missing (in X-ALD; CALD-type).
P33897	529	529	G -> S (in X-ALD).
P33897	534	534	P -> L (in X-ALD; CALD-type).
P33897	540	540	F -> S (in X-ALD).
P33897	543	543	P -> L (in X-ALD).
P33897	544	544	Q -> R (in X-ALD).
P33897	552	552	S -> P (in X-ALD).
P33897	554	554	R -> H (in X-ALD).
P33897	556	556	Q -> R (in X-ALD; ACALD type).
P33897	560	560	P -> L (in X-ALD; CALD-type).
P33897	560	560	P -> R (in X-ALD; AMN and ALMD-types).
P33897	560	560	P -> S (in X-ALD).
P33897	566	566	M -> K (in X-ALD).
P33897	591	591	R -> P (in X-ALD).
P33897	591	591	R -> Q (in X-ALD; AMN-type; significantly decreases homodimerization and abolishes heterodimerization with ALDR and PMP70).
P33897	591	591	R -> W (in X-ALD).
P33897	606	606	S -> L (in X-ALD; decreased ATP-binding affinity).
P33897	606	606	S -> P (in X-ALD; CALD, AMN and ALMD- types).
P33897	608	608	G -> D (in X-ALD; CALD-type).
P33897	609	609	E -> G (in X-ALD).
P33897	609	609	E -> K (in X-ALD; AMN-type).
P33897	616	616	A -> V (in X-ALD).
P33897	617	617	R -> C (in X-ALD; ALD-type and asymptomatic).
P33897	617	617	R -> G (in X-ALD; ADO and AMN-types with cerebral involvement).
P33897	617	617	R -> H (in X-ALD).
P33897	626	626	A -> D (in X-ALD).
P33897	626	626	A -> T (in X-ALD; CALD and AMN-types).
P33897	629	629	D -> H (in X-ALD).
P33897	630	630	E -> G (in X-ALD).
P33897	631	631	C -> Y (in X-ALD).
P33897	632	632	T -> I (in X-ALD).
P33897	633	633	S -> I (in X-ALD; asymptomatic).
P33897	633	633	S -> R (in X-ALD).
P33897	635	635	V -> M (in X-ALD).
P33897	636	636	S -> I (in X-ALD).
P33897	638	638	D -> Y (in X-ALD).
P33897	646	646	A -> P (in X-ALD).
P33897	654	654	L -> P (in X-ALD).
P33897	657	657	Missing (in X-ALD; CALD-type).
P33897	660	660	R -> P (in X-ALD; CALD-type).
P33897	660	660	R -> W (in X-ALD; CALD, ALMD and AS- types).
P33897	667	667	H -> D (in X-ALD).
P33897	668	668	T -> I (in X-ALD).
P33897	679	679	W -> R (in X-ALD; AMN-type).
P33897	693	693	T -> M (in X-ALD).
Q9UBJ2	244	244	Q -> K (in a pancreatic ductal adenocarcinoma sample; somatic mutation).
P28288	17	17	G -> D (in a patient with Zellweger syndrome).
O14678	172	172	V -> I (in dbSNP:rs34992370).
O14678	304	304	A -> T (in dbSNP:rs4148077).
O14678	350	350	T -> R (in dbSNP:rs35073715).
O14678	368	368	E -> K (in dbSNP:rs3742801).
Q8NE71	198	198	N -> D (in dbSNP:rs6902544).
Q9NUQ8	503	503	P -> L (in dbSNP:rs11706273).
Q9NUQ8	510	510	R -> H (in dbSNP:rs9811715).
Q9BXL1	668	668	F -> L.
Q4GZT4	578	578	Y -> S (polymorphism affecting milk fat and protein concentration).
Q8IX16	12	12	V -> M (in dbSNP:rs2231137).
Q8IX16	141	141	Q -> K (lower transport efficiency; dbSNP:rs2231142).
Q8IX16	166	166	Q -> E (in dbSNP:rs1061017).
Q8IX16	206	206	I -> L.
Q8IX16	208	208	F -> S (in dbSNP:rs1061018).
Q8IX16	248	248	S -> P (in dbSNP:rs3116448).
Q8IX16	296	296	D -> H (in dbSNP:rs41282401).
Q8IX16	316	316	T -> P.
Q8IX16	431	431	F -> L.
Q8IX16	489	489	F -> L.
Q8IX16	528	528	A -> T (in dbSNP:rs45605536).
Q8IX16	571	571	F -> I (in dbSNP:rs9282571).
Q8IX16	590	590	N -> Y.
Q8IX16	620	620	D -> N.
Q9H172	352	352	P -> L (in dbSNP:rs35060365).
Q9H222	50	50	R -> C (in dbSNP:rs6756629).
Q9H222	146	146	E -> Q (in sitosterolemia).
Q9H222	389	389	R -> H (in sitosterolemia).
Q9H222	419	419	R -> H (in sitosterolemia).
Q9H222	419	419	R -> P (in sitosterolemia).
Q9H222	437	437	N -> K (in sitosterolemia).
Q9H222	517	517	T -> S (in dbSNP:rs17031672).
Q9H222	523	523	I -> V.
Q9H222	550	550	R -> S (in sitosterolemia).
Q9H222	600	600	C -> Y.
Q9H222	604	604	Q -> E (in dbSNP:rs6720173).
Q9H222	622	622	M -> V.
Q99PE7	583	583	G -> C (in strain: SHR, SHRSP and Wistar Kyoto).
Q9H221	19	19	D -> H (associated significantly with GBD4; dbSNP:rs11887534).
Q9H221	54	54	Y -> C (in dbSNP:rs4148211).
Q9H221	184	184	R -> H (in sitosterolemia).
Q9H221	210	210	V -> M (in dbSNP:rs9282574).
Q9H221	231	231	P -> T (in sitosterolemia).
Q9H221	238	238	E -> K (in dbSNP:rs34754243).
Q9H221	259	259	A -> V (in dbSNP:rs35518570).
Q9H221	263	263	R -> Q (in sitosterolemia).
Q9H221	400	400	T -> K (in dbSNP:rs4148217).
Q9H221	405	405	R -> H (in sitosterolemia).
Q9H221	501	501	L -> P (in sitosterolemia).
Q9H221	543	543	R -> S (in sitosterolemia).
Q9H221	570	570	Missing (in sitosterolemia).
Q9H221	572	572	L -> P (in sitosterolemia).
Q9H221	574	574	G -> E (in sitosterolemia).
Q9H221	574	574	G -> R (in sitosterolemia).
Q9H221	575	575	G -> R (in dbSNP:rs36209700).
Q9H221	596	596	L -> R (in sitosterolemia).
Q9H221	632	632	V -> A (in dbSNP:rs6544718).
Q9H221	641	641	Y -> F.
Q9H221	655	655	M -> V (in dbSNP:rs9282573).
Q9BX05	349	349	A -> T (in dbSNP:rs746748).
P41238	80	80	M -> I (in dbSNP:rs2302515).
P41238	236	236	R -> K (in dbSNP:rs12820011).
Q9Y235	136	136	I -> T (in dbSNP:rs2076472).
Q99J72	20	20	L -> V (in cell line MDTF).
Q99J72	31	31	K -> E (in cell line MDTF).
Q99J72	34	35	GY -> PF (in cell line MDTF).
Q99J72	34	34	G -> R (in cell lines L1.2 and 3T3).
Q99J72	37	38	KG -> ID (in cell lines L1.2 and 3T3).
Q99J72	38	38	G -> K (in cell line MDTF; requires 2 nucleotide substitutions).
Q99J72	111	111	Q -> R (in cell line L1.2).
Q99J72	112	113	IV -> VL (in cell lines L1.2 and 3T3).
Q99J72	112	112	I -> V (in cell line MDTF).
Q99J72	128	128	S -> F (in cell line MDTF).
Q99J72	134	139	VQDPET -> IRNPEN (in cell line MDTF).
Q99J72	134	135	VQ -> IR (in cell lines L1.2 and 3T3).
Q99J72	139	140	TQ -> NQL (in cell line 3T3).
Q99J72	139	139	T -> N (in cell line L1.2).
Q99J72	148	148	Q -> L (in cell line MDTF).
Q99J72	162	163	KK -> EE (in cell line MDTF).
Q99J72	181	181	R -> K (in cell lines L1.2 and 3T3).
Q99J72	230	235	GRRMDP -> RRRVHL (in cell line 3T3).
Q99J72	233	235	MDP -> VHL.
Q99J72	234	235	DP -> SL (in cell line MDTF).
Q99J72	248	248	Q -> L (in cell line MDTF).
Q99J72	258	259	RM -> GV (in cell line 3T3).
Q99J72	258	258	R -> G (in cell line L1.2).
Q99J72	264	264	C -> F (in cell line MDTF).
Q99J72	269	269	Q -> W (in cell line MDTF; requires 2 nucleotide substitutions).
Q99J72	274	274	A -> E (in cell line MDTF).
Q99J72	284	296	Missing (in cell line MDTF).
Q99J72	306	306	T -> I (in cell lines L1.2 and 3T3).
Q99J72	314	314	S -> G (in cell line EL4).
Q99J72	328	328	R -> K (in cell line MDTF).
Q99J72	381	381	N -> S (in cell line MDTF).
Q99J72	387	387	W -> R (in splenocytes).
Q99J72	394	395	II -> KT (in cell line MDTF).
Q99J72	399	399	T -> A (in cell line L1.2).
Q99J72	404	404	R -> C (in cell lines MDTF and 3T3).
Q99J72	404	404	R -> H (in cell line L1.2).
Q8WW27	75	75	S -> F (in dbSNP:rs16861394).
Q8WW27	271	271	F -> S (in dbSNP:rs1174658).
Q8WW27	275	275	P -> S (in dbSNP:rs10911391).
Q8WW27	300	300	D -> G (in dbSNP:rs16861381).
Q8WW27	331	331	K -> E (in dbSNP:rs1174657).
Q8WW27	345	345	V -> M (in dbSNP:rs10911390).
Q6UXT9	334	334	A -> T (in dbSNP:rs542939).
Q96SE0	54	54	P -> Q (in dbSNP:rs34127901).
Q96SE0	137	137	E -> D (in dbSNP:rs6715286).
Q96SE0	371	371	W -> C (in dbSNP:rs2304678).
P08910	253	253	R -> Q (in dbSNP:rs17851730).
Q8WU67	3	3	R -> C (in dbSNP:rs17851878).
Q8WTS1	7	7	E -> K (in CDS).
Q8WTS1	72	72	I -> T (in dbSNP:rs2302349).
Q8WTS1	82	82	H -> R (found in a patient with CDS but without evidence it may cause the disease).
Q8WTS1	115	115	S -> G (in CDS).
Q8WTS1	130	130	Q -> P (in CDS; loss of PNPLA2-dependent triacylclycerol hydrolysis but no effect on LPA acyltransferase activity; dbSNP:rs28939077).
Q8WTS1	260	260	E -> K (in CDS; loss of PNPLA2-dependent triacylclycerol hydrolysis but no effect on LPA acyltransferase activity; dbSNP:rs28939078).
Q9NUJ1	251	251	I -> V (in dbSNP:rs17429033).
Q9BUJ0	32	32	R -> Q (in dbSNP:rs17849626).
Q9BUJ0	61	61	C -> W (in dbSNP:rs404527).
Q5T2R7	331	331	G -> A (in dbSNP:rs2306236).
Q01593	225	225	M -> L (in strain: cv. An-1, cv. Br-0, cv. Ct-1, cv. Cvi-1, cv. Edi-0, cv. Ga-0, cv. Kas-1, cv. Kin-0, cv. Landsberg erecta, cv. Ll-0, cv. Lz-0, cv. Ms-0, cv. Mt-0, cv. Nok-3, cv. Oy-0, cv. Se-0, cv. Sorbo, cv. Tsu-1, cv. Van-0, cv. Wa-1 and cv. Wassilewskija).
Q01593	231	231	G -> E (in strain: cv. Kas-1 and cv. Sorbo).
Q01593	248	248	A -> T (in strain: cv. Cvi-1).
Q9P2A4	44	44	R -> Q (in dbSNP:rs2233369).
Q9P2A4	203	203	S -> F (in dbSNP:rs616338).
Q9P2A4	209	209	F -> S (in dbSNP:rs616338).
Q6NMC6	135	135	K -> N (in strain: cv. Ita-0).
P00519	47	47	R -> G (in a lung large cell carcinoma sample; somatic mutation).
P00519	140	140	L -> P (in dbSNP:rs1064152).
P00519	166	166	R -> K (in a melanoma sample; somatic mutation).
P00519	247	247	K -> R (in dbSNP:rs34549764).
P00519	706	706	G -> V (in dbSNP:rs34634745).
P00519	810	810	P -> L (in dbSNP:rs2229071).
P00519	852	852	T -> P.
P00519	900	900	P -> S (in dbSNP:rs35266696).
P00519	968	968	S -> P (in dbSNP:rs1064165).
P00519	972	972	S -> L (in dbSNP:rs2229067).
P42684	78	78	R -> H (in dbSNP:rs55655202).
P42684	99	99	E -> Q (somatic mutation in a breast cancer sample).
P42684	519	519	R -> I (somatic mutation in a lung squamous cell carcinoma).
P42684	769	769	T -> S (in dbSNP:rs55892721).
P42684	930	930	K -> R (in dbSNP:rs17277288).
P42684	946	946	V -> M (in dbSNP:rs28913889).
P42684	996	996	P -> R (in dbSNP:rs28913890).
P42684	1085	1085	S -> N (in dbSNP:rs28913891).
P42684	1101	1101	T -> A (in dbSNP:rs28913892).
O14639	434	434	P -> T (in dbSNP:rs11593544).
O14639	637	637	R -> G (in dbSNP:rs7091419).
Q6H8Q1	227	227	G -> R (in a pancreatic ductal adenocarcinoma sample; somatic mutation).
Q6H8Q1	274	274	K -> M (in a pancreatic ductal adenocarcinoma sample; somatic mutation).
O94929	125	125	G -> D (in dbSNP:rs35907283).
P19801	16	16	T -> M (in dbSNP:rs10156191).
P19801	332	332	S -> F (in dbSNP:rs1049742).
P19801	479	479	M -> I (in dbSNP:rs45558339).
P19801	645	645	H -> D (in dbSNP:rs1049793).
P19801	659	659	N -> H (in dbSNP:rs35070995).
P13689	13	13	A -> G.
P13689	141	141	N -> S.
Q12979	517	517	K -> R (in dbSNP:rs34169260).
Q8N961	64	64	H -> Q (in dbSNP:rs1925368).
Q8N961	732	732	T -> A (in dbSNP:rs2473928).
Q91J24	37	37	R -> Q (in strain: Infectious clone pBCT028).
Q91J24	62	62	G -> E (in strain: Infectious clone pBCT028).
Q86WB2	838	838	R -> W (in dbSNP:rs2287351).
Q86WB2	1687	1687	R -> Q (in a colorectal cancer sample; somatic mutation).
Q86WB2	2271	2271	A -> V (rare polymorphism; frequency <0.004; may play a role in breast cancer susceptibility).
O00763	193	193	R -> L (in a pancreatic ductal adenocarcinoma sample; somatic mutation).
O00763	552	552	I -> V (in dbSNP:rs16940029).
O00763	651	651	A -> T (in dbSNP:rs2300455).
O00763	2141	2141	I -> V (in dbSNP:rs2075260).
Q9UKU7	128	128	M -> I (in IBDD).
Q9UKU7	134	134	D -> Y (in IBDD).
Q9UKU7	137	137	G -> R (in IBDD; complete loss of activity).
Q9UKU7	152	152	M -> T (in IBDD).
Q9UKU7	203	203	V -> I (in IBDD).
Q9UKU7	302	302	R -> Q (in IBDD; complete loss of activity).
Q9UKU7	320	320	A -> T (in IBDD; <20% of wild-type activity).
Q9UKU7	334	334	R -> C (in IBDD).
Q9UKU7	385	385	Q -> R (in IBDD).
Q9H845	477	477	R -> Q (in dbSNP:rs4494951).
P28330	303	303	S -> T (in dbSNP:rs1801204).
P28330	333	333	K -> Q (in dbSNP:rs2286963).
P11310	53	53	R -> C (in MCAD deficiency).
P11310	67	67	Y -> H (in MCAD deficiency; mild).
P11310	78	78	I -> T (in MCAD deficiency).
P11310	115	116	Missing (in MCAD deficiency).
P11310	116	116	C -> Y (in MCAD deficiency).
P11310	121	121	T -> I (in MCAD deficiency).
P11310	132	132	P -> R (in a breast cancer sample; somatic mutation).
P11310	149	149	M -> I (in MCAD deficiency).
P11310	193	193	T -> A (in MCAD deficiency; the thermostability is markedly decreased).
P11310	195	195	G -> R (in MCAD deficiency).
P11310	206	206	R -> L (in MCAD deficiency).
P11310	244	244	C -> R (in MCAD deficiency).
P11310	245	245	S -> L (in MCAD deficiency).
P11310	267	267	G -> R (in MCAD deficiency).
P11310	281	281	R -> T (in MCAD deficiency; mild or benign clinical phenotype).
P11310	310	310	G -> R (in MCAD deficiency).
P11310	326	326	M -> T (in MCAD deficiency).
P11310	329	329	K -> E (in MCAD deficiency; most common variant).
P11310	336	336	S -> R (in MCAD deficiency).
P11310	352	352	Y -> C (in MCAD deficiency).
P11310	375	375	I -> T (in MCAD deficiency).
P16219	46	46	R -> W (in SCAD deficiency).
P16219	90	90	G -> S (in SCAD deficiency; no detectable activity).
P16219	92	92	G -> C (in SCAD deficiency).
P16219	104	104	Missing (in SCAD deficiency; no detectable activity).
P16219	107	107	R -> C (in SCAD deficiency).
P16219	171	171	R -> W (69% of wild-type activity; confers susceptibility to ethylmalonicaciduria; dbSNP:rs1800556).
P16219	177	177	W -> R (in SCAD deficiency; dbSNP:rs57443665).
P16219	192	192	A -> V (in SCAD deficiency; no detectable activity; dbSNP:rs28940874).
P16219	209	209	G -> S (86% of wild-type activity; confers susceptibility to ethylmalonicaciduria; dbSNP:rs1799958).
P16219	325	325	R -> W (in SCAD deficiency; no detectable activity).
P16219	353	353	S -> L (in SCAD deficiency; no detectable activity; dbSNP:rs28941773).
P16219	380	380	R -> W (in SCAD deficiency; no detectable activity; dbSNP:rs28940875).
P16219	383	383	R -> C (in SCAD deficiency; dbSNP:rs28940872).
P16219	383	383	R -> H (in dbSNP:rs35233375).
P49748	17	17	L -> F (in dbSNP:rs2230179).
P49748	43	43	G -> D (in VLCAD deficiency; could be a polymorphism; dbSNP:rs2230178).
P49748	65	65	P -> L (in dbSNP:rs28934585).
P49748	130	130	Missing (in VLCAD deficiency).
P49748	158	158	T -> N (in VLCAD deficiency).
P49748	159	159	Q -> R (in VLCAD deficiency).
P49748	174	174	V -> M (in VLCAD deficiency).
P49748	185	185	G -> S (in VLCAD deficiency).
P49748	213	213	A -> P (in VLCAD deficiency).
P49748	218	218	E -> K (in VLCAD deficiency).
P49748	243	243	L -> R (in VLCAD deficiency).
P49748	247	247	K -> E (in VLCAD deficiency).
P49748	247	247	K -> T (in VLCAD deficiency).
P49748	260	260	T -> M (in VLCAD deficiency).
P49748	278	278	Missing (in VLCAD deficiency).
P49748	281	281	A -> D (in VLCAD deficiency).
P49748	283	283	V -> A (in VLCAD deficiency).
P49748	290	290	G -> D (in VLCAD deficiency).
P49748	294	294	G -> E (in VLCAD deficiency).
P49748	299	299	K -> N (in VLCAD deficiency).
P49748	299	299	Missing (in VLCAD deficiency).
P49748	317	317	V -> A (in VLCAD deficiency).
P49748	352	352	M -> V (in VLCAD deficiency).
P49748	359	359	A -> S (in dbSNP:rs1051701).
P49748	366	366	R -> C (in VLCAD deficiency).
P49748	366	366	R -> H (in VLCAD deficiency).
P49748	381	381	Missing (in VLCAD deficiency).
P49748	382	382	K -> Q (in VLCAD deficiency).
P49748	405	405	D -> H (in VLCAD deficiency).
P49748	441	441	G -> D (in VLCAD deficiency; dbSNP:rs2309689).
P49748	450	450	R -> H (in VLCAD deficiency).
P49748	453	453	R -> Q (in VLCAD deficiency).
P49748	454	454	D -> N (in VLCAD deficiency).
P49748	456	456	R -> H (in VLCAD deficiency).
P49748	458	458	F -> L (in VLCAD deficiency).
P49748	459	459	R -> W (in VLCAD deficiency).
P49748	463	463	G -> E (in VLCAD deficiency).
P49748	469	469	R -> Q (in VLCAD deficiency).
P49748	469	469	R -> W (in VLCAD deficiency).
P49748	490	490	A -> P (in VLCAD deficiency).
P49748	502	502	L -> P (in VLCAD deficiency).
P49748	534	534	E -> K (in VLCAD deficiency; dbSNP:rs2230180).
P49748	602	602	L -> I (in VLCAD deficiency).
P49748	613	613	R -> W (in VLCAD deficiency).
P49748	615	615	R -> Q (in VLCAD deficiency).
P49748	623	623	S -> F (in dbSNP:rs13383).
Q9H6B4	69	69	R -> H (in dbSNP:rs2276348).
Q15027	68	68	R -> C (in dbSNP:rs35933585).
Q15027	114	114	K -> R (in a breast cancer sample; somatic mutation).
Q15027	129	129	R -> Q (in a colorectal cancer sample; somatic mutation).
Q15027	533	533	R -> W (in dbSNP:rs35019942).
O00400	113	113	S -> R (in SPG42).
O00400	171	171	D -> G (in dbSNP:rs3804769).
O00400	400	400	V -> A (in a colorectal cancer sample; somatic mutation).
Q8NC06	118	118	P -> L (in dbSNP:rs901754).
Q8NC06	242	242	R -> G (in dbSNP:rs16939879).
Q5T8D3	472	472	T -> M (in dbSNP:rs7918793).
Q96GR2	194	194	E -> V (in dbSNP:rs12899901).
Q96GR2	633	633	M -> V (in dbSNP:rs2304824).
Q96GR2	673	673	A -> V (in dbSNP:rs11072735).
Q5FVE4	143	143	V -> A (in dbSNP:rs4807840).
Q5FVE4	152	152	K -> R (in dbSNP:rs33937754).
Q5FVE4	584	584	G -> D (in dbSNP:rs17851959).
Q5FVE4	586	586	G -> D (in dbSNP:rs17851960).
Q5FVE4	601	601	P -> R (in dbSNP:rs35609668).
Q5FVE4	624	624	R -> K (in dbSNP:rs17856650).
Q5FVE4	626	626	E -> Q (in dbSNP:rs17856651).
Q5FVE4	650	650	R -> S (in dbSNP:rs35605352).
P07108	39	39	D -> N (in dbSNP:rs8192504).
P07108	71	71	M -> V (in dbSNP:rs8192506).
P07108	86	86	G -> R (in dbSNP:rs8192507).
Q41008	313	313	M -> S (in strain: cv. Miranda).
Q41008	452	452	F -> L (in strain: cv. Miranda).
Q41008	631	631	V -> E (in strain: cv. Miranda).
Q2QD80	71	71	D -> Y (in strain: cv. Baekmibaekdadagi).
Q2QD80	117	120	STYQ -> YKYR (in strain: cv. Baekmibaekdadagi).
Q16515	354	354	D -> G (in dbSNP:rs16967895).
Q9UHC3	228	228	N -> S (in dbSNP:rs1864545).
Q96FT7	614	614	P -> Q (in dbSNP:rs6436153).
Q96FT7	616	616	R -> L (in dbSNP:rs11689281).
Q96FT7	619	619	V -> A (in dbSNP:rs11695248).
Q6JQN1	200	200	Q -> R (in dbSNP:rs35276160).
Q6JQN1	216	216	T -> P (in dbSNP:rs35753710).
Q6JQN1	463	463	D -> N (in dbSNP:rs36046440).
Q6JQN1	880	880	A -> V (in dbSNP:rs34245489).
Q709F0	157	157	R -> H (in dbSNP:rs821572).
Q709F0	362	362	V -> L (in dbSNP:rs6776576).
P45954	13	13	R -> K (in dbSNP:rs12263012).
P45954	209	209	S -> G (in dbSNP:rs1799823).
P45954	255	255	L -> F (in SBCADD).
P45954	316	316	I -> V (in dbSNP:rs1131430).
P45954	376	376	E -> G (in dbSNP:rs12357783).
Q96AP0	301	301	T -> M (in dbSNP:rs72547495).
Q96AP0	518	518	V -> A (in dbSNP:rs6979).
Q9BYF1	26	26	K -> R (in dbSNP:rs4646116).
Q9BYF1	638	638	N -> S.
P51066	390	390	A -> G (in strain: S3041).
P51066	392	392	D -> E (in strain: S3013, S3014, S3015, S3027 and S3041).
P51066	432	432	A -> S (in strain: S2978, S2979, S2980, S2983, S2985, S2993, S2995, S3013, S3014, S3015, S3027, S3041, S3044, S3057 and S3333).
P51067	2	2	P -> S (in strain: S2980 and S2983).
P51067	4	4	G -> C (in strain: S2978 and S2979).
P51067	20	20	Q -> R (in strain: S3333).
P51067	41	41	H -> Q (in strain: S2978 and S2979).
P51067	73	73	S -> N (in strain: S2980 and S2983).
P51067	77	77	D -> N (in strain: S2980, S2983, S3013, S3014, S3015 and S3027).
P51067	146	147	DH -> EQ (in strain: S3041 and S3044).
P51067	151	151	P -> L (in strain: S2980 and S2983).
P51067	151	151	P -> S (in strain: S2978, S2979 and S2993).
P51067	154	154	M -> V (in strain: S3041 and S3044).
P51067	156	156	I -> M (in strain: S3044).
P51067	163	163	R -> C (in strain: S3333).
P51067	167	167	Q -> L (in strain: S3015 and S3027).
P51067	170	170	S -> R (in strain: S3013, S3014, S3015 and S3027).
P51067	174	174	R -> H (in strain: S3041 and S3044).
P51067	181	181	T -> A (in strain: S3015 and S3027).
P51067	183	183	T -> A (in strain: S3015 and S3027).
P51067	183	183	T -> I (in strain: S2980 and S2983).
P51067	184	184	L -> F (in strain: S3041 and S3044).
P51067	186	188	EDA -> AEG (in strain: S3041 and S3044).
P51067	188	188	A -> G (in strain: S3014).
P51067	194	194	V -> L (in strain: S2980, S2983, S3041 and S3044).
P51067	197	197	A -> T (in strain: S3041).
P51067	213	214	LT -> FI (in strain: S3041 and S3044).
P51067	214	214	T -> A (in strain: S2980 and S2983).
P51067	303	303	C -> G (in strain: S3041 and S3044).
P51067	307	307	E -> N (in strain: S3041 and S3044).
P51067	348	348	M -> V (in strain: S3041 and S3044).
P51067	383	384	RQ -> QR (in strain: S3041 and S3044).
P51067	391	391	A -> T (in strain: S2995 and S3057).
P51067	394	394	R -> Q (in strain: S2980, S2983, S3041 and S3044).
P51067	407	407	H -> Q (in strain: S2978, S2979, S2993, S2995, S3013, S3014, S3015, S3027, S3041, S3044 and S3057).
P51067	409	409	V -> A (in strain: S3041 and S3044).
P51067	411	411	R -> C (in strain: S2993).
P51067	429	429	V -> A (in strain: S3041 and S3044).
P51067	486	486	N -> H (in strain: S3041 and S3044).
P51067	492	492	P -> T (in strain: S3044).
P51067	501	501	A -> S (in strain: S2979).
P51067	502	502	S -> C (in strain: S3041 and S3044).
P51067	510	511	PG -> RC (in strain: S2979).
P51067	547	547	A -> G (in strain: S3041 and S3044).
P51067	554	554	E -> N (in strain: S3041 and S3044).
P51067	557	557	V -> I (in strain: S2978, S2979 and S2993).
P51067	570	570	S -> G (in strain: S2978, S2979, S2995 and S3057).
P51067	574	583	GAISSTANSS -> DIDRRLDKAPAPAGNVCRTA (in strain: S2980 and S2983).
P51067	574	583	GAISSTANSS -> ETDRRPDKAFAPPSGNVRRA (in strain: S3333).
P51067	576	583	ISSTANSS -> KEASPL (in strain: S2995 and S3057).
P51067	578	578	S -> T (in strain: S3041 and S3044).
P51067	580	580	A -> V (in strain: S3015, S3027, S3041 and S3044).
Q5QJU3	134	134	A -> V (in dbSNP:rs10964136).
Q869C3	127	127	V -> A (in strain: Kisumu2 and YAO).
Q869C3	280	280	G -> S (in strain: YAO; confers resistance to insecticides).
Q86GC8	247	247	G -> S (in strain: SR; confers resistance to insecticides).
Q867X3	97	97	G -> S (in strain: Barriol, Espro, Padova and Praias).
Q867X2	97	97	G -> S (in strain: BO, DJI, Harare, Martinique, Recife, Supercar, TemR and Trans; confers resistance to insecticides).
Q867X2	114	114	A -> T (in strain: TemR and Trans).
Q86TM9	34	34	R -> Q (in dbSNP:rs17881553).
Q86TM9	135	135	P -> A (in dbSNP:rs17885778).
Q86TM9	333	333	V -> E (in dbSNP:rs8286).
Q86TM9	353	353	H -> N (in Yt(b) antigen; dbSNP:rs1799805).
P12821	154	154	A -> T (in dbSNP:rs13306087).
P12821	183	183	A -> T (in dbSNP:rs12720754).
P12821	244	244	Y -> C (in dbSNP:rs3730025).
P12821	260	260	R -> C (in dbSNP:rs4302).
P12821	260	260	R -> L (in dbSNP:rs4303).
P12821	261	261	A -> S (in dbSNP:rs4303).
P12821	351	351	P -> L (in dbSNP:rs2229839).
P12821	354	354	G -> R (in dbSNP:rs56394458).
P12821	379	379	R -> Q (in dbSNP:rs13306085).
P12821	524	524	V -> A (in dbSNP:rs12720746).
P12821	561	561	R -> W (in dbSNP:rs4314).
P12821	592	592	D -> G (in dbSNP:rs12709426).
P12821	828	828	M -> T (in dbSNP:rs13306091).
P12821	916	916	T -> M (in dbSNP:rs3730043).
P12821	1018	1018	I -> T (in dbSNP:rs4976).
P12821	1051	1051	F -> V (in dbSNP:rs4977).
P12821	1187	1187	T -> M (in dbSNP:rs12709442).
P12821	1228	1228	P -> L (no effect on activity; increases secretion; rate of solubilization is 2.5- fold higher than wild-type).
P12821	1279	1279	R -> Q (in dbSNP:rs4980).
P12821	1286	1286	R -> S (in dbSNP:rs4364).
P12821	1296	1296	Q -> P (in dbSNP:rs4981).
P47820	207	207	R -> K.
Q46837	1358	1358	N -> G (in strain: O15:H- / 83/39 / ETEC and O78:H11 / H10407 / ETEC).
Q46837	1392	1402	DGTPLPEFYSE -> EGELPKFFSD (in strain: O15:H- / 83/39 / ETEC).
Q46837	1423	1428	EVSNDK -> DVGDKT (in strain: O15:H- / 83/ 39 / ETEC).
Q46837	1498	1498	D -> K (in strain: O15:H- / 83/39 / ETEC).
Q46837	1511	1511	Q -> K (in strain: O15:H- / 83/39 / ETEC).
Q46837	1519	1519	A -> V (in strain: O15:H- / 83/39 / ETEC).
Q9GZZ6	355	355	E -> A (in dbSNP:rs2231547).
P09478	538	538	Y -> H.
P04755	73	73	V -> I.
P25162	278	278	T -> A (in RNA edited version).
Q15822	22	22	T -> I (in dbSNP:rs2472553).
Q15822	125	125	A -> T (in dbSNP:rs891398).
Q15822	279	279	I -> N (in ENFL4; markedly increases receptor sensitivity to acetylcholine).
P32297	23	23	Missing.
P32297	37	37	R -> H (in dbSNP:rs8192475).
P43681	280	280	S -> F (in ENFL1).
P43681	280	280	S -> L (in ENFL1).
P43681	387	387	E -> G (in dbSNP:rs45604738).
P43681	517	517	S -> L (in dbSNP:rs45622132).
O70174	529	529	T -> A.
P30532	134	134	V -> I (in dbSNP:rs2229961).
P30532	398	398	D -> N (associated with susceptibility to lung cancer; dbSNP:rs16969968).
Q15825	447	447	N -> S (in dbSNP:rs16891583).
Q9UGM1	96	96	R -> Q (in dbSNP:rs10024518).
Q9UGM1	315	315	A -> V (in dbSNP:rs55633891).
Q9UGM1	442	442	S -> N (in dbSNP:rs10009228).
P02708	177	177	V -> L (in FCCMS; mutant channel shows an approximately 30-fold decrease of ACh binding affinity for the second of 2 closed-state binding sites but only a 2- fold decrease in gating efficiency).
P02708	198	198	G -> S (in SCCMS).
P02708	201	201	V -> M (in SCCMS).
P02708	254	254	R -> L (in lethal type multiple pterygium syndrome).
P02708	262	262	N -> K (in SCCMS).
P02708	278	278	F -> V (in FCCMS; markedly reduced protein expression).
P02708	294	294	V -> F (in SCCMS; causes increased channel opening in absence of ACh; prolonged opening in presence of ACh; increased affinity for ACh and enhanced desensitization).
P02708	299	299	T -> I (in SCCMS).
P02708	301	301	F -> L (in FCCMS; fewer and shorter ion channel activations with decreased channel opening rate and increased channel closing rate).
P02708	314	314	S -> I (in SCCMS).
P02708	330	330	V -> I (in FCCMS; abnormally slow channel opening and closing resulting in abnormally brief current).
P02708	383	383	D -> V (in dbSNP:rs6739001).
P02708	463	463	C -> W (in SCCMS; increases the rate of channel opening and slows the rate of channel closing but has no effect on agonist binding).
P17787	287	287	V -> L (in ENFL3).
P17787	287	287	V -> M (in ENFL3; approximately 10-fold increase in acetylcholine sensitivity).
P17787	397	397	Q -> H (in dbSNP:rs55685423).
Q05901	451	451	K -> E (in dbSNP:rs35327613).
P30926	91	91	T -> I (in dbSNP:rs12914008).
P30926	136	136	R -> W.
P30926	140	140	S -> G (in dbSNP:rs56218866).
P30926	467	467	M -> V.
P11230	32	32	E -> G (in dbSNP:rs17856697).
P11230	285	285	L -> M (in SCCMS).
P11230	289	289	V -> M (in SCCMS).
P11230	449	451	Missing (in ACHRDCMS; impairs AChR assembly by disrupting a specific interaction between beta and delta subunits).
P02712	3	3	N -> D (in a second clone).
P02712	11	11	L -> V (in a second clone).
Q07001	80	80	E -> K (in FCCMS; reduced adult and fetal AChR expression and a reduced probability of both adult and fetal AChR being in the open state).
Q07001	95	95	F -> L (in lethal type multiple pterygium syndrome).
Q07001	271	271	P -> Q (in FCCMS; burst duration was decreased and disassociation of ACh was increased resulting in brief channel opening episodes; shows abnormal association with alpha CHRNA1 subunit resulting in a decreased number of fully assembled AChRs).
Q07001	288	288	Q -> E (in SCCMS; a benign mutation or a rare polymorphism; dbSNP:rs41265127).
Q07001	289	289	S -> F (in SCCMS; delayed closure of AchR ion channels, increasing the propensity for open-channel block, as well as a reduced rate of channel opening).
Q07001	398	398	D -> E (in a breast cancer sample; somatic mutation).
Q04844	13	13	G -> R (in FCCMS; impaired association with alpha CHRNA1 subunit of AChR).
Q04844	18	18	G -> V (in dbSNP:rs4790235).
Q04844	98	98	L -> P (in SCCMS; rare example of recessive inheritance; dbSNP:rs28929768).
Q04844	141	141	P -> L (in FCCMS; marked decrease in rate of AChR channel opening; reduction in frequency of open channel state and resistance to desensitization by ACh).
Q04844	163	163	S -> L (in FCCMS; fails to assemble with alpha CHRNA1 subunit of AChR).
Q04844	167	167	R -> L (in ACHRDCMS; significantly reduced AChR expression).
Q04844	241	241	L -> F (in SCCMS; mild form with variable penetrance; dbSNP:rs28999110).
Q04844	265	265	P -> L (in ACHRDCMS; prolongs burst open duration 2-fold by slowing the rate of channel closing).
Q04844	284	284	T -> P (in SCCMS; markedly prolonged channel openings in presence of agonist; as well as opening in the absence of agonist).
Q04844	289	289	L -> F (in SCCMS; slows rate of AChR channel closure and increases apparent affinity for ACh; causes pathologic channel openings even in the absence of ACh resulting in a leaky channel).
Q04844	331	331	R -> W (in ACHRDCMS; shortens burst duration 2-fold by slowing the rate of channel opening and speeding the rate of ACh dissociation; has a mild fast-channel kinetic effect on the AChR by shortening the long burst and increasing the decay of the endplate current).
Q04844	431	431	A -> P (in FCCMS; causes an increase in distributions of rates for channel opening and closing increasing the range of activation kinetics).
P07510	107	107	V -> G (in Escobar syndrome and multiple pterygium syndrome; lethal type).
P07510	149	149	A -> T (in dbSNP:rs2289080).
P07510	239	239	R -> C (in Escobar syndrome and multiple pterygium syndrome; lethal type).
Q9UKV3	257	257	R -> K (in dbSNP:rs11555803).
Q9UKV3	311	311	I -> M (in dbSNP:rs3811182).
Q9UKV3	447	447	P -> A (in dbSNP:rs941719).
Q9UKV3	467	467	S -> P (in dbSNP:rs1885097).
Q9UKV3	478	478	S -> F (in dbSNP:rs3751501).
Q9UKV3	1160	1160	R -> Q (in a colorectal cancer sample; somatic mutation).
Q07912	34	34	R -> L (in a lung adenocarcinoma sample; somatic mutation).
Q07912	71	71	K -> R (in dbSNP:rs56036945).
Q07912	99	99	R -> Q (in an ovarian mucinous carcinoma sample; somatic mutation).
Q07912	99	99	R -> W (in dbSNP:rs3747673).
Q07912	152	152	T -> M (in dbSNP:rs56161912).
Q07912	346	346	E -> K (in an ovarian endometrioid cancer sample; somatic mutation).
Q07912	409	409	M -> I (in a gastric adenocarcinoma sample; somatic mutation).
Q07912	507	507	P -> S (in dbSNP:rs35759128).
Q07912	725	725	P -> L (in dbSNP:rs56260729).
Q07912	748	748	R -> Q (in dbSNP:rs57872314).
Q07912	802	802	P -> L (in dbSNP:rs3749333).
Q07912	1038	1038	R -> H (in dbSNP:rs13433937).
Q9Y615	45	45	R -> C.
Q9Y615	161	161	A -> P (in dbSNP:rs35995497).
Q9Y615	340	340	V -> M (in dbSNP:rs7872077).
Q9Y615	343	343	L -> V (in dbSNP:rs56031956).
P53396	175	175	E -> D (in dbSNP:rs2304497).
P20309	65	65	V -> I (in dbSNP:rs2067481).
P20309	431	431	L -> P (in dbSNP:rs16839102).
Q8WXI4	11	11	R -> W (in dbSNP:rs34630746).
Q8WXI4	165	165	P -> L (in dbSNP:rs2304306).
Q8WXI4	202	202	G -> D (in dbSNP:rs1702003).
Q8WXI4	212	212	M -> I (in dbSNP:rs2304305).
Q8WXI4	536	536	R -> H (in dbSNP:rs12403630).
Q8WYK0	230	230	V -> I (in dbSNP:rs34607174).
Q8WYK0	403	403	A -> T (in dbSNP:rs10371).
P21399	395	395	A -> D (in dbSNP:rs3814519).
P21399	486	486	G -> R (in dbSNP:rs34630459).
Q9BS07	224	224	M -> L (in dbSNP:rs2234970).
Q99798	697	697	T -> N (in a breast cancer sample; somatic mutation).
Q99798	768	768	A -> S (in dbSNP:rs1804785).
Q86TX2	266	266	R -> H (in dbSNP:rs1049568).
P49753	16	16	R -> S (in dbSNP:rs11545741).
P49753	475	475	H -> R (in dbSNP:rs7494).
Q8N9L9	57	57	R -> C (in dbSNP:rs3742819).
Q8N9L9	187	187	A -> D (in dbSNP:rs35724886).
Q3I5F7	166	166	E -> K (in dbSNP:rs17782052).
Q9Y305	305	305	N -> H (in a pancreatic ductal adenocarcinoma sample; somatic mutation).
Q15067	101	101	G -> S (in dbSNP:rs3744032).
Q15067	153	153	T -> I (in dbSNP:rs17855420).
Q15067	178	178	G -> C (in pseudo-NALD).
Q15067	278	278	M -> V (in pseudo-NALD).
Q15067	312	312	I -> M (in dbSNP:rs1135640).
O15254	34	34	E -> A (in dbSNP:rs12513296).
O15254	497	497	D -> N (in dbSNP:rs13434465).
Q9NUZ1	255	255	T -> M (in dbSNP:rs1554005).
Q9NUZ1	535	535	P -> L (in dbSNP:rs17041850).
P0A199	57	57	A -> T (in plasmid pCP301).
P32887	134	134	K -> KK (in ACL1.A3).
P08971	17	17	A -> V (in ACL1.C2).
P13798	541	541	T -> M (in dbSNP:rs3816877).
P78704	303	303	N -> K (confers acriflavine-resistance).
Q8NEB7	336	336	T -> A (in dbSNP:rs3741923).
Q96QF7	471	471	R -> H (in dbSNP:rs10217999).
Q96QF7	662	662	T -> I (in dbSNP:rs2280962).
P10323	120	120	L -> V (in dbSNP:rs1064734).
P10323	166	166	F -> L (in dbSNP:rs1064735).
O94049	504	504	N -> K.
O94049	543	543	N -> D.
Q08AH3	335	335	V -> L (in dbSNP:rs4643305).
Q08AH3	336	336	T -> A (in dbSNP:rs5002299).
Q08AH3	337	337	V -> G (in dbSNP:rs4586421).
Q08AH3	513	513	S -> L (in dbSNP:rs1133607).
Q08AH3	561	561	A -> T (in dbSNP:rs1054977).
Q9NUB1	488	488	V -> M (in dbSNP:rs6050249).
Q96CM8	75	75	G -> V (in dbSNP:rs17856448).
Q96CM8	316	316	V -> M (in dbSNP:rs3744523).
Q4G176	2	2	L -> P (in dbSNP:rs7188200).
Q4G176	17	17	A -> P (in dbSNP:rs11547019).
Q4G176	372	372	V -> M (in dbSNP:rs3743979).
Q96BW4	61	61	I -> V (in dbSNP:rs34543011).
Q96BW4	93	93	P -> R (in dbSNP:rs34228795).
Q96BW4	368	368	K -> R (in dbSNP:rs3796543).
Q96BW4	747	747	A -> V (in dbSNP:rs3796544).
Q96BW4	774	774	V -> I (in dbSNP:rs3796545).
Q96BW4	865	865	T -> A (in dbSNP:rs12498340).
Q96BW4	1030	1030	Y -> D (in dbSNP:rs8340).
O95573	551	551	F -> S (in dbSNP:rs1046032).
O60488	133	133	R -> C (in a colorectal cancer sample; somatic mutation).
O60488	570	570	R -> S (in MRX63).
Q9ULC5	182	182	M -> V (in dbSNP:rs3736946).
Q9ULC5	388	388	K -> R (in a colorectal cancer sample; somatic mutation).
Q9ULC5	466	466	G -> D (in a colorectal cancer sample; somatic mutation).
Q9ULC5	486	486	T -> A (in dbSNP:rs12254915).
Q9BEA2	372	372	T -> A.
Q08AH1	272	272	I -> M (in dbSNP:rs16970511).
Q08AH1	479	479	I -> V (in dbSNP:rs8056709).
Q08AH1	515	515	I -> T (in dbSNP:rs16970453).
Q53FZ2	100	100	L -> P (in dbSNP:rs5713).
Q53FZ2	270	270	D -> H (in dbSNP:rs13306603).
Q53FZ2	308	308	P -> T (in dbSNP:rs7196188).
Q53FZ2	367	367	K -> N (in dbSNP:rs5716).
P0C7M7	481	481	R -> H (in dbSNP:rs61584783).
Q6NUN0	65	65	R -> Q (in dbSNP:rs9928053).
Q6NUN0	159	159	Q -> H.
Q6NUN0	182	182	E -> K (in dbSNP:rs7192210).
Q6NUN0	217	217	M -> V (in dbSNP:rs59025904).
Q6NUN0	352	352	P -> R (in dbSNP:rs8062344).
Q6NUN0	360	360	H -> R (in dbSNP:rs12931877).
Q6NUN0	533	533	T -> M (in dbSNP:rs56308819).
Q6P461	19	19	E -> G (in dbSNP:rs591157).
Q6P461	40	40	C -> S (in dbSNP:rs11188225).
Q6P461	227	227	K -> R (in dbSNP:rs7090248).
P62736	39	39	R -> H (in AAT6).
P62736	117	117	N -> T (in AAT6).
P62736	118	118	R -> Q (in AAT6).
P62736	135	135	Y -> H (in AAT6).
P62736	145	145	Y -> C (in AAT6).
P62736	149	149	R -> C (in AAT6).
P62736	154	154	V -> A (in AAT6).
P62736	185	185	R -> Q (in AAT6).
P62736	196	196	T -> S (in dbSNP:rs1803028).
P62736	212	212	R -> Q (in AAT6).
P62736	258	258	R -> C (in AAT6).
P62736	258	258	R -> H (in AAT6).
P62736	292	292	R -> G (in AAT6).
P62736	320	320	T -> A (in dbSNP:rs1803027).
P62736	326	326	T -> N (in AAT6).
P62736	353	353	T -> N (in AAT6).
P62736	373	373	H -> P (in dbSNP:rs1062398).
Q96HG5	183	183	R -> W (in DYTJ; modifies cell response to latrunculin A).
Q96HG5	243	243	P -> L (in dbSNP:rs11546899).
P68032	90	90	H -> Y (in CMH11).
P68032	97	97	R -> C (in CMH11).
P68032	101	101	E -> K (in CMH11).
P68032	125	125	M -> V (in ASD5; reduced affinity for myosin; normal actin filament polymerization ability; normal actomyosin motor function).
P68032	166	166	P -> A (in CMH11).
P68032	168	168	Y -> C (in CMH11).
P68032	297	297	A -> S (in CMH11).
P68032	307	307	M -> L (in CMH11).
P68032	314	314	R -> H (in CMD1R).
P68032	333	333	A -> P (in CMH11).
P68032	363	363	E -> G (in CMD1R).
P63261	89	89	T -> I (in DFNA20; dbSNP:rs28999111).
P63261	118	118	K -> M (in DFNA20).
P63261	160	160	T -> I (in dbSNP:rs11549206).
P63261	243	243	P -> L (in dbSNP:rs11546899).
P63261	264	264	P -> L (in DFNA20).
P63261	278	278	T -> I (in DFNA20; dbSNP:rs28999112).
P63261	332	332	P -> A (in DFNA20).
P63261	370	370	V -> A (in DFNA20; restricts cell growth at elevated temperature or under hyperosmolar stress as measured in growth assays with yeast expressing the mutation).
Q01718	27	27	P -> R (in dbSNP:rs28926178).
Q01718	74	74	S -> I (in GCCD1; complete loss of activity).
Q01718	103	103	D -> N (in GCCD1).
Q01718	107	107	D -> N (in GCCD1).
Q01718	120	120	S -> R (in GCCD1).
Q01718	128	128	R -> C (in GCCD1).
Q01718	137	137	R -> W (in GCCD1; partial loss of ACTIVITY).
Q01718	146	146	R -> H (in GCCD1).
Q01718	251	251	C -> F (in GCCD1).
Q01718	254	254	Y -> C (in GCCD1; complete loss of activity; dbSNP:rs28940892).
Q01718	278	278	F -> C (in dbSNP:rs28926182).
Q9H568	3	3	A -> S (in dbSNP:rs694214).
Q9H568	245	245	R -> C (in dbSNP:rs3795322).
Q8TC94	37	37	S -> F (in dbSNP:rs2340550).
Q8TC94	42	42	A -> D (in a colorectal cancer sample; somatic mutation).
Q8TC94	51	51	V -> A (in dbSNP:rs10410943).
Q8TC94	227	227	H -> N (in dbSNP:rs4804079).
Q8TC94	332	332	A -> T (in a colorectal cancer sample; somatic mutation).
P12814	707	707	N -> T (in dbSNP:rs7157661).
P12814	868	868	T -> S (in dbSNP:rs11557769).
P35609	9	9	Q -> R (in CMD1AA).
P35609	604	604	M -> V (in dbSNP:rs35997569).
Q08043	523	523	R -> Q (in dbSNP:rs1671064).
Q08043	628	628	C -> R (in dbSNP:rs618838).
Q08043	635	635	E -> A (in dbSNP:rs2229456).
Q08043	776	776	Q -> R (in dbSNP:rs540874).
O43707	255	255	K -> E (in FSGS1; dbSNP:rs28939374).
O43707	259	259	T -> I (in FSGS1; dbSNP:rs28939375).
O43707	262	262	S -> P (in FSGS1; dbSNP:rs28939376).
P61914	116	116	P -> D.
P61915	167	167	S -> T.
P68133	3	3	D -> Y (in actin congenital myopathy; with cores).
P68133	17	17	G -> R (in CM).
P68133	27	27	D -> N (in NEM3).
P68133	37	37	V -> L (in NEM3).
P68133	40	40	P -> L (in NEM3).
P68133	42	42	H -> Y (in NEM3; severe).
P68133	43	43	Q -> R (in NEM3).
P68133	44	44	G -> V (in NEM3).
P68133	45	45	V -> F (in NEM3).
P68133	66	66	I -> N (in NEM3).
P68133	68	68	T -> I (in NEM3).
P68133	74	74	E -> K (in NEM3).
P68133	75	75	H -> L (in NEM3).
P68133	75	75	H -> R (in NEM3).
P68133	77	77	I -> L (in NEM3).
P68133	79	79	T -> A (in NEM3).
P68133	85	85	E -> K (in NEM3).
P68133	96	96	L -> P (in NEM3; autosomal recessive).
P68133	116	116	A -> T (in NEM3).
P68133	117	117	N -> S (in NEM3; autosomal dominant).
P68133	117	117	N -> T (in NEM3).
P68133	118	118	R -> H (in NEM3).
P68133	134	134	M -> V (in NEM3; autosomal dominant).
P68133	136	136	V -> A (in NEM3).
P68133	138	138	I -> M (in NEM3; autosomal recessive).
P68133	140	140	A -> P (in NEM3).
P68133	142	142	L -> P (in NEM3).
P68133	148	148	G -> D (in NEM3).
P68133	150	150	T -> N (in NEM3).
P68133	156	156	D -> N (in NEM3).
P68133	165	165	V -> L (in CM).
P68133	165	165	V -> M (in NEM3; results in sequestration of sarcomeric and Z line proteins into intranuclear aggregates; there is some evidence of muscle regeneration suggesting a compensatory effect).
P68133	172	172	A -> G (in NEM3).
P68133	181	181	D -> G (in NEM3).
P68133	181	181	D -> H (in NEM3).
P68133	181	181	D -> N (in NEM3).
P68133	184	184	G -> D (in NEM3; mild).
P68133	185	185	R -> C (in NEM3; severe).
P68133	185	185	R -> D (in NEM3; requires 2 nucleotide substitutions).
P68133	185	185	R -> G (in NEM3; autosomal dominant; severe).
P68133	185	185	R -> S (in NEM3).
P68133	198	198	R -> L (in NEM3).
P68133	199	199	G -> S (in NEM3).
P68133	223	223	L -> P (in CFTD).
P68133	226	226	E -> G (in NEM3).
P68133	226	226	E -> Q (in NEM3).
P68133	227	227	N -> V (in NEM3; requires 2 nucleotide substitutions).
P68133	229	229	M -> I (in NEM3).
P68133	229	229	M -> T (in NEM3).
P68133	229	229	M -> V (in NEM3).
P68133	243	243	E -> K (in NEM3).
P68133	248	248	Q -> K (in NEM3).
P68133	248	248	Q -> R (in NEM3).
P68133	253	253	G -> D (in NEM3).
P68133	258	258	R -> H (in NEM3; severe).
P68133	258	258	R -> L (in NEM3).
P68133	261	261	E -> V (in NEM3; autosomal recessive).
P68133	265	265	Q -> L (in NEM3; severe).
P68133	270	270	G -> C (in NEM3; autosomal dominant).
P68133	270	270	G -> D (in NEM3).
P68133	270	270	G -> R (in NEM3).
P68133	271	271	M -> R (in NEM3; autosomal dominant).
P68133	274	274	A -> E (in NEM3).
P68133	281	281	Y -> H (in NEM3).
P68133	282	282	N -> K (in NEM3; severe).
P68133	285	285	M -> K (in NEM3).
P68133	288	288	D -> G (in NEM3; severe).
P68133	294	294	D -> V (in CFTD; results in decreased motility due to abnormal interactions between actin and tropomyosin with tropomyosin stabilized in the 'off' position; the mutant protein incorporates into actin filaments and does not result in increased actin aggregation or disruption of the sarcomere).
P68133	334	334	P -> S (in CFTD).
P68133	336	336	E -> A (in actin congenital myopathy).
P68133	338	338	K -> E (in NEM3).
P68133	338	338	K -> I (in NEM3).
P68133	350	350	S -> L (in NEM3).
P68133	359	359	I -> L (in NEM3; autosomal dominant; severe).
P68133	372	372	V -> F (in NEM3; severe).
P68133	374	374	R -> S (in NEM3).
P68133	375	375	K -> E (in NEM3).
P68133	375	375	K -> Q (in NEM3).
Q8TDY3	247	247	G -> R (in dbSNP:rs3795263).
P42025	93	93	V -> A (in dbSNP:rs11547231).
P42025	143	143	A -> V (in dbSNP:rs11692435).
P60010	143	143	Y -> F (in strain: CBS 1907).
P36896	146	146	F -> L (in dbSNP:rs34488074).
P36896	408	408	L -> V (in dbSNP:rs928906).
Q8NER5	195	195	I -> T.
Q8NER5	216	216	G -> R.
Q8NER5	267	267	W -> R (in a lung squamous cell carcinoma sample; somatic mutation).
Q8NER5	355	355	I -> V.
Q8NER5	482	482	I -> V (in dbSNP:rs7594480).
P37023	48	49	GA -> EP (in HHT2).
P37023	48	48	G -> R (in HHT2).
P37023	50	50	W -> C (in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum).
P37023	51	51	C -> Y (in HHT2).
P37023	67	67	R -> Q (in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum).
P37023	67	67	R -> W (in HHT2).
P37023	77	77	C -> W (in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum).
P37023	96	96	N -> D (in HHT2).
P37023	179	179	D -> A (in HHT2; mutant protein is capable of targeting the cell surface appropriately).
P37023	211	211	G -> D (in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum; dbSNP:rs28936687).
P37023	215	215	E -> K (in HHT2).
P37023	223	223	G -> R (in HHT2).
P37023	229	229	K -> R (in HHT2).
P37023	232	232	Missing (in HHT2; mutant protein is capable of targeting the cell surface appropriately).
P37023	233	233	Missing (in HHT2).
P37023	245	245	I -> N (in dbSNP:rs1804508).
P37023	254	254	Missing (in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum).
P37023	285	285	L -> F (in HHT2).
P37023	306	306	A -> P (in HHT2).
P37023	314	314	H -> Y (in HHT2).
P37023	333	333	S -> I (in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum).
P37023	337	337	L -> P (in HHT2).
P37023	344	344	C -> Y (in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum; dbSNP:rs28936688).
P37023	347	347	A -> P (in HHT2).
P37023	374	374	R -> Q (in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum).
P37023	374	374	R -> W (in HHT2; dbSNP:rs28936401).
P37023	376	376	M -> R (in HHT2; dbSNP:rs28936399).
P37023	376	376	M -> V (in HHT2).
P37023	378	378	P -> L (in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum).
P37023	379	379	E -> K (in HHT2).
P37023	397	397	D -> G (in HHT2).
P37023	398	398	I -> N (in HHT2; dbSNP:rs28936400).
P37023	399	399	W -> S (in HHT2; dbSNP:rs28936402).
P37023	407	407	E -> D (in HHT2).
P37023	411	411	R -> P (in HHT2).
P37023	411	411	R -> Q (in HHT2; retained in the cell cytoplasm in the endoplasmic reticulum; dbSNP:rs28936398).
P37023	411	411	R -> W (in HHT2).
P37023	424	424	P -> T (in HHT2).
P37023	425	425	F -> L (in HHT2).
P37023	425	425	F -> V (in HHT2).
P37023	425	425	Missing (in HHT2).
P37023	479	479	R -> L (in HHT2).
P37023	482	482	A -> V (in HHT2).
P37023	484	484	R -> W (in HHT2).
P37023	487	487	K -> T (in HHT2; mutant protein is capable of targeting the cell surface appropriately).
Q04771	15	15	A -> G (in dbSNP:rs13406336).
Q04771	41	41	S -> F (in dbSNP:rs55957214).
Q04771	47	47	H -> Q (in dbSNP:rs34056189).
Q04771	115	115	P -> S (in a melanoma sample; somatic mutation).
Q04771	197	198	PF -> L (in FOP; variant phenotype).
Q04771	202	202	R -> I (in FOP; with some atypical features).
Q04771	206	206	R -> H (in FOP).
Q04771	207	207	Q -> E (in FOP; with some atypical features).
Q04771	328	328	G -> E (in FOP; variant phenotype).
Q04771	328	328	G -> R (in FOP; variant phenotype).
Q04771	328	328	G -> W (in FOP; variant phenotype).
Q04771	356	356	G -> D (in FOP; variant phenotype).
Q04771	375	375	R -> P (in FOP; variant phenotype).
Q03154	179	179	N -> S (in dbSNP:rs887540).
Q03154	197	197	R -> W (in ACY1D).
Q03154	233	233	E -> D (in ACY1D).
Q03154	353	353	R -> C (in ACY1D).
Q03154	381	381	E -> D (in a breast cancer sample; somatic mutation).
Q03154	386	386	R -> C (in dbSNP:rs2229152).
Q03154	393	393	R -> H (in ACY1D).
P45381	16	16	I -> T (in CAND; <0.5% residual enzyme activity).
P45381	21	21	H -> P (in CAND).
P45381	24	24	E -> G (in CAND).
P45381	27	27	G -> R (in CAND; 3% residual enzyme activity).
P45381	57	57	A -> T (in CAND).
P45381	68	68	D -> A (in CAND).
P45381	114	114	D -> E (in CAND; <0.5% residual enzyme activity).
P45381	114	114	D -> Y (in CAND).
P45381	123	123	G -> E (in CAND; about 25% residual enzyme activity).
P45381	143	143	I -> T (in CAND; in a Japanese patient).
P45381	152	152	C -> R (in CAND; loss of activity).
P45381	152	152	C -> W (in CAND).
P45381	152	152	C -> Y (in CAND; <0.5% residual enzyme activity).
P45381	168	168	R -> C (in CAND; undetectable enzyme activity).
P45381	168	168	R -> H (in CAND).
P45381	176	177	Missing (in CAND).
P45381	181	181	P -> T (in CAND).
P45381	183	183	P -> H (in CAND).
P45381	186	186	V -> F (in CAND).
P45381	195	195	M -> R (in CAND).
P45381	231	231	Y -> C (in CAND).
P45381	244	244	H -> R (in CAND).
P45381	249	249	D -> V (in CAND).
P45381	274	274	G -> R (in CAND).
P45381	280	280	P -> L (in CAND).
P45381	280	280	P -> S (in CAND).
P45381	285	285	E -> A (in CAND; predominant mutation in Ashkenazi Jewish population; 99% loss of activity; dbSNP:rs28940279).
P45381	287	287	A -> T (in CAND).
P45381	295	295	F -> S (in CAND).
P45381	305	305	A -> E (in CAND; loss of activity; pan- European origin; most prevalent among non-Jewish CAND patients; probably the most ancient mutation; dbSNP:rs28940574).
P45381	310	310	C -> G.
Q96HD9	8	8	R -> Q (in dbSNP:rs948445).
Q96HD9	281	281	V -> M (in dbSNP:rs2290959).
O75078	693	693	S -> R (in a pancreatic ductal adenocarcinoma sample; somatic mutation).
O43184	48	48	G -> R (in dbSNP:rs3740199).
O43184	301	301	D -> H (in a breast cancer sample; somatic mutation).
O43184	479	479	G -> E (in a breast cancer sample; somatic mutation).
O43184	792	792	L -> F (in a breast cancer sample; somatic mutation).
Q96C78	191	191	K -> T (in dbSNP:rs6427128).
Q96C78	294	294	P -> H (in dbSNP:rs2306122).
Q96C78	502	502	P -> Q (in dbSNP:rs17093828).
P78536	162	162	K -> E (in dbSNP:rs34431503).
P78536	202	202	R -> G (in dbSNP:rs2230818).
Q9Y3Q7	212	212	V -> F (in dbSNP:rs10093794).
Q9H013	4	4	G -> S (in dbSNP:rs11465228).
Q9H013	133	133	R -> Q (in a colorectal cancer sample; somatic mutation).
Q9H013	298	298	A -> T (in a colorectal cancer sample; somatic mutation).
Q9H013	609	609	H -> Q (in a pancreatic ductal adenocarcinoma sample; somatic mutation).
Q6RUJ8	40	40	G -> W (in a breast cancer sample; somatic mutation).
Q6RUJ8	200	200	I -> S (in dbSNP:rs2229125).
Q6RUJ8	347	347	C -> R (frequent polymorphism; dbSNP:rs1048101).
Q6RUJ8	414	414	K -> R (in dbSNP:rs3730247).
Q6RUJ8	465	465	E -> D (in dbSNP:rs2229126).
P35368	51	51	V -> G (in dbSNP:rs8192448).
O43506	19	19	F -> L (in dbSNP:rs1059166).
Q9P0K1	81	81	P -> R (in dbSNP:rs2279542).
Q9P0K1	119	119	H -> Y (in dbSNP:rs4728730).
Q9P0K1	207	207	V -> I (in dbSNP:rs17255978).
Q9UKQ2	219	219	R -> M (in dbSNP:rs9314282).
Q9UKQ2	226	226	E -> D (in dbSNP:rs17736699).
Q9UKQ2	493	493	N -> S (in dbSNP:rs7001647).
Q9UKQ2	593	593	T -> K (in dbSNP:rs36041430).
Q9UKQ2	604	604	T -> P (in dbSNP:rs35617826).
Q9UKQ2	684	684	M -> I (in dbSNP:rs7829965).
Q9UKQ2	765	765	M -> V (in dbSNP:rs7814768).
Q9UKF5	31	31	P -> L (in a colorectal cancer sample; somatic mutation).
Q9UKF5	205	205	V -> I (in a colorectal cancer sample; somatic mutation).
P08913	251	251	N -> K (rare polymorphism; frequency in Caucasians 0.004 and in African-Americans 0.05; 40% increase in agonist-promoted Gi coupling; dbSNP:rs1800035).
P08913	386	386	C -> S (in dbSNP:rs35658213).
P18089	211	211	G -> A (in dbSNP:rs9333568).
P18089	301	303	Missing (common polymorphism; frequency in Caucasians 0.31 and in African- Americans 0.12; impaired phosphorylation and desensitization by GRKs).
P18089	376	376	V -> I (in dbSNP:rs29000569).
P18089	379	379	V -> G.
P18089	379	379	V -> I (in dbSNP:rs29000569).
P18825	322	325	Missing.
Q9UKF2	359	359	L -> P (in dbSNP:rs2641348).
Q9UKF2	737	737	T -> A (in dbSNP:rs35273427).
Q8TC27	98	98	Q -> R (in dbSNP:rs17856744).
Q8TC27	160	160	S -> G (in dbSNP:rs17852343).
Q8TC27	327	327	L -> V (in dbSNP:rs9643859).
Q8TC27	467	467	T -> S (in dbSNP:rs7845771).
Q8TC27	658	658	K -> N (in dbSNP:rs13277386).
Q8TC27	778	778	D -> E (in dbSNP:rs28705715).
Q9BZ11	109	109	N -> S (in dbSNP:rs41467948).
Q9BZ11	178	178	T -> A (in dbSNP:rs3918392).
Q9BZ11	272	272	T -> M (in dbSNP:rs41534847).
Q9BZ11	316	316	V -> I (in dbSNP:rs41459049).
Q9BZ11	336	336	P -> S (in dbSNP:rs41483049).
Q9BZ11	365	365	A -> S (in dbSNP:rs41419248).
Q9BZ11	441	441	D -> E (in dbSNP:rs41382144).
Q9BZ11	515	515	W -> R (in dbSNP:rs615436).
Q9BZ11	612	612	L -> H (in dbSNP:rs41453444).
Q9BZ11	710	710	V -> I (in dbSNP:rs3918396).
Q9BZ11	739	739	C -> G (in dbSNP:rs41434648).
Q9BZ11	742	742	D -> Y (in dbSNP:rs41462450).
Q9BZ11	764	764	M -> T (in dbSNP:rs2280091).
Q9BZ11	774	774	P -> S (in dbSNP:rs2280090).
Q8NCV1	44	44	G -> E (in dbSNP:rs8044695).
Q8NCV1	235	235	G -> R (in dbSNP:rs11149631).
Q8NCV1	307	307	G -> R (in dbSNP:rs11149631).
Q99965	10	10	G -> W (in dbSNP:rs34800519).
Q9H2U9	25	25	E -> Q (in dbSNP:rs34852692).
Q9H2U9	205	205	I -> V (in dbSNP:rs7829386).
Q9H2U9	244	244	V -> M (in dbSNP:rs13255694).
Q9H2U9	453	453	I -> T (in dbSNP:rs3736281).
Q9H2U9	570	570	L -> V (in dbSNP:rs2307044).
Q9H2U9	638	638	N -> H (in dbSNP:rs13259668).
Q9H2U9	735	735	L -> P (in dbSNP:rs6980829).
P78325	101	101	G -> R (in dbSNP:rs11101675).
P78325	189	189	R -> W (in dbSNP:rs45451297).
P78325	433	433	R -> C (in dbSNP:rs12257830).
P78325	775	775	I -> T (in dbSNP:rs3008319).
O75689	241	241	G -> S (in dbSNP:rs10256887).
Q9NII1	437	437	S -> G (in RNA edited version).
O00116	309	309	T -> I (in RCDP3).
O00116	419	419	R -> H (in RCDP3).
O00116	469	469	L -> P (in RCDP3).
Q9BUB4	167	167	H -> N (in dbSNP:rs3743598).
Q9BUB4	203	203	T -> N (in dbSNP:rs3743599).
Q9BUB4	226	226	I -> V (in dbSNP:rs56029288).
Q9BUB4	242	242	T -> P (in dbSNP:rs3743600).
Q96EY9	332	332	R -> C (in a breast cancer sample; somatic mutation).
P56658	199	199	K -> Q.
P56658	246	246	A -> T.
P56658	352	352	G -> R.
Q59ZB1	273	273	K -> T (in allele CaO19.9791).
Q59ZB1	284	284	N -> T (in allele CaO19.9791).
P06134	75	75	E -> D (in strain: B).
P06134	79	80	AQ -> PR (in strain: B).
P06134	318	318	I -> V (in strain: B).
P06134	330	330	T -> S (in strain: B).
P00813	8	8	D -> N (in allele ADA*2; in about 10% of the population; 20% to 30% decrease in activity; affects duration and intensity of deep sleep).
P00813	15	15	H -> D (in ADASCID; loss of activity).
P00813	20	20	G -> R (in ADASCID; loss of activity).
P00813	74	74	G -> C (in ADASCID; delayed-onset).
P00813	76	76	R -> W (in ADASCID).
P00813	80	80	K -> R (in dbSNP:rs11555566).
P00813	83	83	A -> D (in ADASCID; loss of activity).
P00813	101	101	R -> L (in ADASCID).
P00813	101	101	R -> Q (in ADASCID; loss of activity; dbSNP:rs28930970).
P00813	101	101	R -> W (in ADASCID; dbSNP:rs28930969).
P00813	107	107	L -> P (in ADASCID).
P00813	129	129	V -> M (in ADASCID; delayed-onset).
P00813	140	140	G -> E (in ADASCID).
P00813	142	142	R -> Q (in ADASCID; 20% of activity; ADA deficiency of late onset; found as somatic mutation in a pancreatic ductal adenocarcinoma sample).
P00813	149	149	R -> Q (in ADASCID).
P00813	149	149	R -> W (in ADASCID).
P00813	152	152	L -> M (in ADASCID; 1,5% of activity, partial ADA deficiency; dbSNP:rs28930972).
P00813	156	156	R -> C (in ADASCID; dbSNP:rs28930971).
P00813	156	156	R -> H (in ADASCID).
P00813	177	177	V -> M (in ADASCID; loss of activity).
P00813	179	179	A -> D (in ADASCID; loss of activity).
P00813	199	199	Q -> P (in ADASCID; delayed-onset).
P00813	211	211	R -> C (in ADASCID; late onset).
P00813	211	211	R -> H (in ADASCID).
P00813	215	215	A -> T (in ADASCID).
P00813	216	216	G -> R (in ADASCID; severe).
P00813	233	233	T -> I (in ADASCID; 20% of activity, partial ADA deficiency; dbSNP:rs28930973).
P00813	274	274	P -> L (in ADASCID).
P00813	291	291	S -> L (in ADASCID).
P00813	297	297	P -> Q (in ADASCID).
P00813	304	304	L -> R (in ADASCID; loss of activity).
P00813	329	329	A -> V (in ADASCID).
P00813	337	337	Missing (in ADASCID).
Q7Z695	66	66	S -> G (in dbSNP:rs2968558).
Q7Z695	307	307	S -> P (in dbSNP:rs1140034).
Q7Z695	418	418	V -> L.
Q7Z695	418	418	V -> M (in dbSNP:rs3748092).
Q7Z695	622	622	P -> L (in dbSNP:rs1046515).
Q7Z695	626	626	P -> L (in dbSNP:rs55922126).
Q8NI60	85	85	H -> Q (in dbSNP:rs2297411).
Q8NI60	213	213	R -> W (in coenzyme Q10 deficiency).
Q8NI60	272	272	G -> D (in coenzyme Q10 deficiency).
Q8NI60	272	272	G -> V (in coenzyme Q10 deficiency).
Q8NI60	341	341	I -> T (in dbSNP:rs55798516).
Q8NI60	514	514	Y -> C (in SCAR9).
Q8NI60	549	549	G -> S (in SCAR9).
Q8NI60	551	551	E -> K (in coenzyme Q10 deficiency).
Q8NI60	584	584	Missing (in SCAR9).
Q96D53	78	78	R -> C (in dbSNP:rs11538384).
Q96D53	174	174	H -> R (in dbSNP:rs3865452).
Q96D53	318	318	T -> M (in dbSNP:rs55899516).
Q96D53	352	352	T -> R (in dbSNP:rs36012476).
Q96D53	462	462	T -> M (in dbSNP:rs56083906).
Q3MIX3	17	17	R -> S (in dbSNP:rs6599528).
Q6P093	186	186	A -> S (in dbSNP:rs1972977).
Q6P093	343	343	L -> I (in dbSNP:rs1052562).
Q5VUY0	47	47	S -> P (in dbSNP:rs3010877).
Q5VUY0	71	71	L -> M (in dbSNP:rs3000859).
Q5VUY0	129	129	R -> W (in dbSNP:rs17038445).
Q5VUY0	195	195	F -> C (in dbSNP:rs7513079).
Q5VUY0	250	250	M -> I (in dbSNP:rs3000931).
Q5VUY0	280	280	P -> L (in dbSNP:rs11121969).
Q08828	456	456	P -> L (in dbSNP:rs12721473).
Q08828	940	940	A -> T (in dbSNP:rs45444695).
Q08828	984	984	V -> M (in dbSNP:rs2293106).
Q08462	147	147	V -> L (in dbSNP:rs13166360).
Q08462	163	163	V -> I (in dbSNP:rs34043481).
O60266	107	107	S -> P (in dbSNP:rs11676272).
O43306	674	674	A -> S (in dbSNP:rs3730071).
P40145	80	80	A -> T (in dbSNP:rs2228949).
P40145	881	881	F -> L (in a colorectal cancer sample; somatic mutation).
O60503	772	772	I -> M (in 37.5% of the Asian population, in 30% of the Caucasian population and in 16.3% of the African-American population; reduced adenylyl cyclase activity in response to stimulation of the beta- adregnergic receptor by the agonists Mn(2+), isoproteronol and NaF; increased albuterol-stimulated adenylyl cyclase activity in the presence of corticosteroid; dbSNP:rs2230739).
Q96PN6	234	234	T -> M (in dbSNP:rs16859886).
Q96PN6	697	697	V -> I (in dbSNP:rs2071921).
Q96L56	288	288	A -> S (in dbSNP:rs16835244).
P35611	6	6	R -> C (in dbSNP:rs2295497).
P35611	270	270	Y -> N (in dbSNP:rs4971).
P35611	376	376	E -> D (in dbSNP:rs4972).
P35611	460	460	G -> W (in dbSNP:rs4961).
P35611	510	510	N -> I (in dbSNP:rs4962).
P35611	586	586	S -> C (in dbSNP:rs4963).
Q63028	316	316	Y -> F (in strain: Milan hypersensitive).
Q7Z688	28	28	D -> N (in dbSNP:rs4986).
Q7Z688	98	98	S -> C (in dbSNP:rs4987).
Q7Z688	335	335	E -> D (in dbSNP:rs4982).
Q7Z688	439	439	T -> A (in dbSNP:rs17855969).
Q7Z688	663	663	S -> R (in dbSNP:rs4985).
Q05764	529	529	R -> Q (in strain: Milan hypertensive).
Q62847	572	572	Q -> K (in strain: Milan hypersensitive).
O15204	121	121	M -> T (in dbSNP:rs7007084).
O15204	444	444	N -> S (in dbSNP:rs3765124).
P00325	48	48	R -> H (in beta-2; allele ADH1B*2; common in Asian populations; associated with a lower risk of alcoholism; dbSNP:rs1229984).
P00325	57	57	N -> K (in dbSNP:rs1041969).
P00325	60	60	T -> S (in dbSNP:rs6413413).
P00325	370	370	R -> C (in beta-3/Indianapolis; allele ADH1B*3; decreased NAD(H) binding; dbSNP:rs2066702).
P00326	48	48	R -> H (in dbSNP:rs35385902).
P00326	166	166	P -> S.
P00326	272	272	R -> Q (in allele ADH3*2/gamma-2; dbSNP:rs1693482).
P00326	350	350	I -> V (in allele ADH3*2/gamma-2; dbSNP:rs698).
P00326	352	352	P -> T (in dbSNP:rs35719513).
P80222	186	186	D -> T.
P80222	317	317	S -> T.
Q9CAZ2	43	43	F -> Y (in strain: cv. Hiroshima).
Q9CAZ2	51	51	V -> L (in strain: cv. Bla-10, cv. Ci-0, cv. Cvi-0, cv. Hiroshima, cv. Kas-1 and cv. Ita-0).
Q9CAZ2	101	101	E -> D (in strain: cv. Aa-0, cv. Al-0, cv. Bl-1, cv. Bs-0, cv. Gr-1, cv. Mt-0, cv. Shokei and cv. Yo-0).
Q9CAZ2	106	106	H -> K (in strain: cv. Bl-1 and cv. Gr- 1).
Q9CAZ2	106	106	H -> Q (in strain: cv. Aa-0, cv. Al-0, cv. Bs-0, cv. Mt-0, cv. Shokei and cv. Yo-0).
Q9CAZ2	120	120	T -> P (in strain: cv. Es-0).
Q9CAZ2	180	180	S -> A (in strain: cv. Bla-10).
Q9CAZ2	197	197	S -> T (in strain: cv. Cvi-0).
Q9CAZ2	217	217	A -> V (in strain: cv. Kas-1).
P09370	187	187	P -> T (in strain: VRF).
P09370	189	189	L -> V (in strain: VRF).
P09370	236	236	V -> L (in strain: VRF).
Q64415	30	30	V -> A.
P00333	52	52	Y -> D (in allele ADH1-Cm).
P00333	127	127	A -> G (in allele ADH1-S).
P00333	179	179	Y -> I (in allele ADH1-Cm and allele ADH1-S).
P00333	363	363	D -> N (in allele ADH1-S).
P80338	112	112	R -> C.
P00330	236	236	T -> I.
P09369	28	28	R -> S (in strain: MJBC 95.1, MJS 93 and VRF).
P09369	71	71	T -> S (in strain: MJBC 33.3).
P09369	92	92	A -> T (in strain: VRF).
P09369	98	98	H -> Y (in strain: MJS 115, MJS 147.2F, MJS 16F, MJS 122, MJS 127, MJS 132, MJS 14, MJS 154, MJS 36, MJS 58.2, MJS 68, MJS 84 and MJS 87).
P09369	112	112	V -> L (in strain: VRF).
P09369	115	115	I -> T (in strain: MJS 115, MJS 122, MJS 127, MJS 132, MJS 133, MJS 14, MJS 147.2F, MJS 154, MJS 16F, MJS 36, MJS 58.2, MJS 68, MJS 84, MJS 87, MJS 93 and VRF).
P09369	136	136	V -> I (in strain: MJS 115, MJS 122, MJS 127, MJS 132, MJS 133, MJS 14, MJS 147.2F, MJS 154, MJS 16F, MJS 36, MJS 58.2, MJS 68, MJS 84, MJS 87, MJS 93 and VRF).
P09369	146	146	Y -> L (in strain: VRF).
P09369	147	147	Q -> P (in strain: VRF).
P09369	226	226	E -> Q (in strain: VRF).
P09369	236	236	V -> L (in strain: MJS 115, MJS 122, MJS 127, MJS 132, MJS 133, MJS 14, MJS 147.2F, MJS 154, MJS 16F, MJS 36, MJS 58.2, MJS 68, MJS 84, MJS 87, MJS 93 and VRF).
P08319	309	309	V -> I (in dbSNP:rs1126671).
P08319	318	318	R -> H (in dbSNP:rs29001219).
P08319	374	374	I -> V (in dbSNP:rs1126673).
P28332	102	102	C -> G (in dbSNP:rs28720152).
P28332	114	114	I -> V (in dbSNP:rs28720153).
P28332	151	151	T -> P (in dbSNP:rs34582580).
P40394	92	92	G -> A (in dbSNP:rs1573496).
O16091	200	200	A -> E (in strain: Persimi42 and Persimi50).
O16091	204	204	T -> S (in strain: Persimi42 and Persimi50).
O16091	222	222	Q -> K (in strain: Persimi40 and Persimi42).
P11766	163	163	L -> S (in dbSNP:rs28730623).
P11766	309	309	V -> I (in dbSNP:rs28730628).
P11766	353	353	D -> E (in dbSNP:rs16996593).
Q9NKC0	9	9	N -> V (in allele Adh-UF).
Q9NKC0	46	46	A -> D (in allele Adh-UF).
Q9NKC0	46	46	A -> V (in strain: NC16).
Q9NKC0	52	52	A -> E (in allele Adh-F').
Q9NKC0	71	71	A -> S (in strain: NC16).
Q9NKC0	193	193	K -> T (in allele Adh-F, allele Adh-F- CHD, allele Adh-71K, allele Adh-JA-F and in strain Berkeley).
Q9NKC0	215	215	P -> S (in allele Adh-F-CHD and allele Adh-71K).
Q7KQD8	82	82	V -> L (in strain: Persimi50).
Q7KQD8	185	185	R -> K (in strain: Persimi44).
Q6LCE4	34	34	V -> F (in strain: PS246).
Q6LCE4	68	68	V -> I (in strain: PS230).
Q6LCE4	185	185	K -> R (in strain: PS295).
Q9TY31	57	57	V -> I (in strain: 0811.4).
Q9TY31	77	77	T -> A (in strain: 0811.0 and Lima).
Q9TY31	138	138	S -> P (in strain: Manaus I).
Q9TY31	194	194	S -> P (in strain: Manaus III).
Q9TY31	213	213	T -> A (in strain: Cano Mora and Atlixco).
Q9TY31	225	225	I -> T (in strain: A57).
P26719	211	211	H -> Q (in strain: Gif-sur-Yvette stock 115).
P26719	213	213	T -> N (in strain: Gif-sur-Yvette stock 115).
P26719	233	233	G -> R (in strain: Gif-sur-Yvette stock 115).
Q15848	84	84	G -> R (does not form high molecular weight multimers).
Q15848	90	90	G -> S (does not form high molecular weight multimers).
Q15848	111	111	Y -> H (in dbSNP:rs17366743).
Q15848	112	112	R -> C (in ADPND; does not assemble into trimers resulting in impaired secretion from the cell).
Q15848	117	117	V -> M.
Q15848	164	164	I -> T (associated with low plasma adiponectin concentration and diabetes mellitus type 2; does not assemble into trimers resulting in impaired secretion from the cell).
Q15848	221	221	R -> S.
Q15848	241	241	H -> P.
Q60994	113	113	M -> V.
Q9Y2D8	578	578	C -> R (in dbSNP:rs1057746).
A5LHG2	57	57	S -> F.
P35318	50	50	S -> R (in dbSNP:rs5005).
P35318	85	85	P -> R (in dbSNP:rs2228573).
Q06278	314	314	Q -> R (in dbSNP:rs58185012).
Q06278	802	802	R -> C (in dbSNP:rs41309768).
Q06278	1297	1297	H -> R (in dbSNP:rs3731722).
O54754	109	109	H -> Q (in strain: 129/Sv).
O54754	168	168	A -> G (in strain: C57BL/6 X CBA and 129/ Sv).
O54754	449	449	R -> T (in strain: C57BL/6 X CBA).
O54754	492	492	R -> A (in strain: C57BL/6 X CBA).
O54754	686	687	KQ -> NE (in strain: 129/Sv).
O54754	857	857	E -> D (in strain: 129/Sv).
O54754	983	983	E -> D (in strain: C57BL/6 X CBA).
O54754	1169	1169	N -> D (in strain: C57BL/6 X CBA and 129/ Sv).
O54754	1329	1329	C -> W (in strain: C57BL/6 X CBA and 129/ Sv).
Q9Z0U5	119	120	GM -> AR.
Q9Z0U5	649	649	A -> T (in males).
Q9Z0U5	1276	1276	F -> L (in males).
Q9Z0U5	1315	1315	T -> R (in males).
Q9BRR6	184	184	K -> R (in dbSNP:rs8024644).
Q3LIE5	92	92	L -> R (in dbSNP:rs34940296).
Q3LIE5	337	337	E -> G (in dbSNP:rs406446).
Q86V24	39	39	Q -> R (in dbSNP:rs12298275).
P08588	26	26	A -> V (in dbSNP:rs34844626).
P08588	29	29	A -> T (in dbSNP:rs35720093).
P08588	31	31	R -> Q (in dbSNP:rs35230616).
P08588	49	49	S -> G (associated with high mean resting heart rate; dbSNP:rs1801252).
P08588	389	389	R -> G (reduced binding to G proteins; dbSNP:rs1801253).
P08588	389	389	R -> L.
P08588	399	399	R -> H (in dbSNP:rs36052953).
P08588	405	405	H -> Y (in dbSNP:rs35705839).
Q9UCZ3	15	15	N -> S (in dbSNP:rs33973603).
Q9UCZ3	16	16	G -> R (common polymorphism; dbSNP:rs1042713).
Q9UCZ3	27	27	E -> Q (in dbSNP:rs1042714).
Q9UCZ3	34	34	V -> M.
Q9UCZ3	159	159	I -> F.
Q9UCZ3	159	159	I -> L.
Q9UCZ3	164	164	T -> I (in dbSNP:rs1800888).
Q9UCZ3	220	220	S -> C (in dbSNP:rs3729943).
Q9UCZ3	375	375	K -> R.
P13945	64	64	W -> R (in dbSNP:rs4994).
P13945	249	249	E -> K (in dbSNP:rs28364012).
P13945	265	265	T -> M (in dbSNP:rs4995).
P13945	353	353	R -> C (in dbSNP:rs36031925).
Q9XT58	52	52	V -> A (in allele B3AR-D).
Q9XT58	270	270	A -> V (in allele B3AR-A and allele B3AR- B/F).
Q9XT58	322	322	L -> V (in allele B3AR-D).
Q9XT58	376	376	R -> Q (in allele B3AR-A).
P22570	7	7	R -> L (in dbSNP:rs28365947).
P22570	123	123	R -> Q (in dbSNP:rs690514).
P22570	213	213	G -> V (in dbSNP:rs35692345).
P22570	248	248	P -> L (in dbSNP:rs35072974).
P22570	251	251	R -> W (in dbSNP:rs34038065).
P22570	301	301	R -> C (in dbSNP:rs34118765).
P22570	345	345	T -> M (in dbSNP:rs35660143).
P22570	352	352	P -> S (in dbSNP:rs35696549).
P22570	472	472	T -> A (in dbSNP:rs35769464).
Q9Y6U3	61	61	H -> R (in dbSNP:rs2240572).
Q9Y6U3	443	443	A -> P (in dbSNP:rs35083013).
Q9Y6U3	455	455	F -> L (in dbSNP:rs17166250).
Q9Y6U3	500	500	K -> R (in dbSNP:rs35705332).
Q9Y6U3	578	578	L -> F (in dbSNP:rs1138957).
P12235	90	90	A -> D (in PEOA2).
P12235	98	98	L -> P (in PEOA2).
P12235	104	104	D -> G (in PEOA2; dbSNP:rs28999114).
P12235	114	114	A -> P (in PEOA2).
P12235	123	123	A -> D (in hypertrophic cardiomyopathy; sporadic patient with mild myopathy, exercise intolerance and lactic acidosis but no ophthalmoplegia).
P12235	289	289	V -> M (in PEOA2; also found in a sporadic case affected by PEO).
P05141	111	111	R -> L (in dbSNP:rs371749).
P12236	242	242	S -> F (in dbSNP:rs17851235).
Q8IUX7	273	273	P -> T (in dbSNP:rs2537188).
Q8IUX7	648	648	D -> E (in dbSNP:rs11770649).
Q8IUX7	1001	1001	P -> L (in dbSNP:rs4724285).
Q8IUX7	1133	1133	K -> E (in dbSNP:rs13928).
Q8IUX7	1148	1148	V -> I (in dbSNP:rs13898).
Q96SZ5	25	25	G -> W (in dbSNP:rs2236295).
Q96SZ5	39	39	P -> A (in dbSNP:rs10995311).
Q96SZ5	266	266	P -> S (in dbSNP:rs569705).
Q6UXC1	244	244	P -> T (in a breast cancer sample; somatic mutation).
Q6UXC1	987	987	W -> G (in dbSNP:rs2275156).
Q6UXC1	1174	1174	R -> W (in a breast cancer sample; somatic mutation).
Q8WTP8	15	15	P -> L (in dbSNP:rs3743477).
Q8WTP8	88	88	S -> C (in dbSNP:rs8026929).
Q8WTP8	140	140	N -> D (in dbSNP:rs8027765).
P02592	70	71	EA -> GD (in aequorin-3).
P02592	164	164	S -> N (in aequorin-3).
Q08117	168	168	A -> E (in dbSNP:rs1802578).
P55198	198	198	A -> T (in dbSNP:rs2241012).
Q8N4X5	138	138	G -> R (in dbSNP:rs11196689).
Q8N4X5	366	366	S -> R (in dbSNP:rs7075067).
Q8N4X5	522	522	T -> S (in dbSNP:rs2781806).
Q8N4X5	726	726	E -> K (in dbSNP:rs11599051).
Q57254	59	59	A -> T (in strain: AL847).
Q57254	73	73	N -> D (in strain: AL845 and AL847; chloramphenicol-sensitive).
Q9NQ60	101	101	N -> D (in dbSNP:rs12337286).
Q9NQ60	110	110	I -> T (in dbSNP:rs12341576).
Q9NQ60	274	274	T -> K (in dbSNP:rs41305329).
P43652	395	395	R -> H (in dbSNP:rs41265665).
P43652	404	404	T -> S (in dbSNP:rs2276444).
Q8N556	403	403	S -> C (in dbSNP:rs28406288).
Q8N556	518	518	V -> M (in dbSNP:rs41264705).
P51825	209	209	P -> A (in dbSNP:rs3733378).
P51825	1204	1204	Q -> K (in a breast cancer sample; somatic mutation).
Q13521	1185	1185	L -> M (in dbSNP:rs12858959).
P51826	358	358	S -> N (in dbSNP:rs4851223).
P51826	494	494	N -> S (in dbSNP:rs1047265).
Q9UHB7	136	136	T -> P (in dbSNP:rs34527550).
Q9ZN78	115	115	P -> S (in mutant HO1; lacks DNA-binding activity).
Q9ZN78	171	171	G -> E (in strain: IFO 13350).
Q9ZN78	229	235	AATDSGS -> PTSEGGT (in strain: IFO 13350).
Q9ZN78	255	256	GA -> VT (in strain: IFO 13350).
Q9ZN78	274	274	V -> I (in strain: IFO 13350).
P22149	291	291	C -> F (in allele AFT1-1UP; which is constitutively activated).
Q6ULP2	233	233	D -> G (in dbSNP:rs35986567).
Q6ULP2	301	301	E -> K (in dbSNP:rs3770740).
Q6ULP2	550	550	N -> S (in dbSNP:rs3770739).
Q5I7T1	84	84	A -> G (in dbSNP:rs6582584).
Q5I7T1	383	383	S -> N (in dbSNP:rs57963306).
Q5I7T1	446	446	I -> V (in some patients with drug- induced cardiac repolarization defects; exerts a greater protective effect, relative to wild-type, against drug blockage of KCNH2 potassium channel).
Q7Z7L8	26	26	T -> A (in dbSNP:rs1973717).
Q7Z7L8	47	47	S -> P (in dbSNP:rs12797684).
Q7Z7L8	110	110	R -> S (in dbSNP:rs12796438).
Q7Z7L8	144	144	R -> C (in dbSNP:rs12796667).
Q7Z7L8	151	151	F -> S (in dbSNP:rs12798337).
Q7Z7L8	352	352	P -> S (in dbSNP:rs2434483).
P39180	2	2	K -> N (in strain: ML 308-225).
P39180	41	42	SL -> FF (in strain: ML 308-225).
P39180	46	46	T -> K (in strain: ML 308-225).
P39180	157	157	W -> L (in strain: ML 308-225).
P39180	188	188	V -> F (in strain: ML 308-225).
P39180	303	305	ATN -> STI (in strain: ML 308-225).
P39180	320	320	A -> T (in strain: ML 308-225).
P39180	372	372	N -> Q (in strain: ML 308-225).
P39180	493	493	E -> V (in strain: ML 308-225).
P39180	497	497	S -> N (in strain: ML 308-225).
P39180	585	585	H -> Y (in strain: ML 308-225).
P39180	709	709	E -> K (in strain: ML 308-225).
P39180	721	721	M -> T (in strain: ML 308-225).
P39180	751	753	GHL -> SHF (in strain: ML 308-225).
P39180	803	803	S -> P (in strain: ML 308-225).
P39180	815	815	A -> V (in strain: ML 308-225).
P39180	829	835	LNLVHTS -> MNLIYNA (in strain: ML 308- 225).
P39180	845	847	QGT -> LGA (in strain: ML 308-225).
P39180	855	855	S -> T (in strain: ML 308-225).
P39180	888	888	Q -> L (in strain: ML 308-225).
P39180	1025	1025	S -> I (in strain: ML 308-225).
Q8TF27	82	82	I -> V (in dbSNP:rs2641563).
P06280	12	14	Missing (in FD; has 4% of wild-type activity).
P06280	20	20	A -> P (in FD; atypical).
P06280	31	31	A -> V (in FD).
P06280	32	32	L -> P (in FD).
P06280	34	34	N -> S (in FD; dbSNP:rs28935192).
P06280	35	35	G -> R (in FD).
P06280	40	40	P -> L (in FD).
P06280	40	40	P -> S (in FD).
P06280	42	42	M -> L (in FD).
P06280	42	42	M -> V (in FD).
P06280	43	43	G -> R (in FD).
P06280	45	46	LH -> RS (in FD).
P06280	46	46	H -> P (in FD; has 36% of wild-type activity).
P06280	46	46	H -> R (in FD).
P06280	46	46	H -> Y (in FD).
P06280	47	47	W -> G (in FD).
P06280	49	49	R -> L (in FD).
P06280	49	49	R -> P (in FD).
P06280	49	49	R -> S (in FD).
P06280	52	52	C -> R (in FD).
P06280	52	52	C -> S (in FD).
P06280	56	56	C -> F (in FD).
P06280	56	56	C -> G (in FD; dbSNP:rs28935193).
P06280	56	56	C -> Y (in FD).
P06280	59	59	E -> K (in FD).
P06280	65	65	S -> T (in FD; does not affect enzyme function).
P06280	66	66	E -> Q (in FD; has 52% of wild-type activity; dbSNP:rs28935191).
P06280	72	72	M -> V (in FD; atypical).
P06280	85	85	G -> D (in FD).
P06280	86	86	Y -> C (in FD).
P06280	89	89	L -> P (in FD).
P06280	89	89	L -> R (in FD).
P06280	91	91	I -> T (in FD; mild).
P06280	92	92	D -> H (in FD).
P06280	92	92	D -> Y (in FD).
P06280	93	93	D -> G (in FD).
P06280	93	93	D -> N (in FD; has no enzyme activity).
P06280	94	94	C -> S (in FD).
P06280	94	94	C -> Y (in FD).
P06280	95	95	W -> S (in FD).
P06280	97	97	A -> V (in FD).
P06280	100	100	R -> K (in FD).
P06280	100	100	R -> T (in FD).
P06280	112	117	Missing (in FD).
P06280	112	112	R -> C (in FD).
P06280	112	112	R -> H (in FD; mild).
P06280	112	112	R -> S (in FD).
P06280	113	113	F -> L (in FD; mild).
P06280	113	113	F -> S (in FD).
P06280	120	121	LA -> PT (in FD).
P06280	120	120	L -> V (in FD; has 42% of wild-type activity).
P06280	128	128	G -> E (in FD).
P06280	131	131	L -> P (in FD).
P06280	134	134	Y -> S (in FD).
P06280	135	135	A -> V (in FD).
P06280	138	138	G -> R (in FD).
P06280	142	142	C -> R (in FD).
P06280	142	142	C -> Y (in FD).
P06280	143	143	A -> P (in FD).
P06280	143	143	A -> T (in FD).
P06280	144	144	G -> V (in FD).
P06280	146	146	P -> S (in FD; mild; dbSNP:rs28935194).
P06280	148	148	S -> N (in FD).
P06280	148	148	S -> R (in FD).
P06280	156	156	A -> T (in FD; dbSNP:rs28935195).
P06280	156	156	A -> V (in FD).
P06280	162	162	W -> C (in FD).
P06280	162	162	W -> R (in FD; dbSNP:rs28935196).
P06280	163	163	G -> V (in FD).
P06280	165	165	D -> V (in FD).
P06280	166	166	L -> V (in FD).
P06280	170	170	D -> V (in FD).
P06280	171	171	G -> D (in FD).
P06280	172	172	C -> R (in FD).
P06280	172	172	C -> Y (in FD).
P06280	183	183	G -> D (in FD).
P06280	187	187	M -> V (in FD).
P06280	201	201	S -> F (in FD).
P06280	202	202	C -> W (in FD; dbSNP:rs28936082).
P06280	202	202	C -> Y (in FD).
P06280	205	207	Missing (in FD).
P06280	205	205	P -> T (in FD).
P06280	215	215	N -> S (in FD; mild; dbSNP:rs28935197).
P06280	216	216	Y -> D (in FD).
P06280	219	219	I -> N (in FD).
P06280	219	219	I -> T (in FD; has 46% of wild-type activity).
P06280	223	223	C -> G (in FD).
P06280	224	224	N -> D (in FD).
P06280	224	224	N -> S (in FD).
P06280	226	226	W -> R (in FD).
P06280	227	227	R -> Q (in FD; dbSNP:rs28935198).
P06280	230	230	A -> T (in FD).
P06280	231	231	D -> N (in FD).
P06280	234	234	D -> E (in FD).
P06280	235	235	S -> C (in FD).
P06280	236	236	W -> C (in FD).
P06280	236	236	W -> L (in FD).
P06280	242	242	I -> N (in FD).
P06280	244	244	D -> H (in FD).
P06280	244	244	D -> N (in FD).
P06280	247	247	S -> SWTS (in FD).
P06280	258	258	G -> R (in FD).
P06280	259	259	P -> L (in FD).
P06280	259	259	P -> R (in FD).
P06280	260	260	G -> A (in FD).
P06280	261	261	G -> D (in FD).
P06280	263	263	N -> S (in FD).
P06280	264	264	D -> V (in FD; dbSNP:rs28935486).
P06280	264	264	D -> Y (in FD).
P06280	265	265	P -> R (in FD).
P06280	266	266	D -> H (in FD).
P06280	266	266	D -> N (in FD).
P06280	266	266	D -> V (in FD; dbSNP:rs28935487).
P06280	267	267	M -> I (in FD).
P06280	269	269	V -> A (in FD; dbSNP:rs28935488).
P06280	272	272	N -> K (in FD).
P06280	272	272	N -> S (in FD; dbSNP:rs28935495).
P06280	276	276	S -> G (in FD).
P06280	279	279	Q -> E (in FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells; dbSNP:rs28935485).
P06280	279	279	Q -> H (in FD).
P06280	280	280	Q -> H (in FD).
P06280	284	284	M -> T (in FD).
P06280	285	285	A -> P (in FD).
P06280	287	287	W -> C (in FD).
P06280	287	287	W -> G (in FD).
P06280	288	288	A -> D (in FD).
P06280	289	289	I -> F (in FD).
P06280	296	296	M -> I (in FD; atypical).
P06280	296	296	M -> V (in FD; mild).
P06280	297	297	S -> F (in FD; dbSNP:rs28935489).
P06280	298	298	N -> H (in FD).
P06280	298	298	N -> K (in FD).
P06280	298	298	N -> S (in FD).
P06280	300	300	L -> F (in FD).
P06280	301	301	R -> Q (in FD; mild; does not significantly affect the enzyme activity but the mutant protein levels are decreased presumably in the ER of the cells).
P06280	313	313	D -> Y (in FD; dbSNP:rs28935490).
P06280	316	322	Missing (in FD).
P06280	316	316	V -> E (in FD).
P06280	320	320	N -> K (in FD).
P06280	320	320	N -> Y (in FD).
P06280	321	321	Q -> E (in FD).
P06280	327	327	Q -> K (in FD; dbSNP:rs28935491).
P06280	328	328	G -> A (in FD; dbSNP:rs28935492).
P06280	328	328	G -> R (in FD).
P06280	328	328	G -> V (in FD).
P06280	338	338	E -> K (in FD).
P06280	340	340	W -> R (in FD).
P06280	341	341	E -> K (in FD).
P06280	342	342	R -> Q (in FD; severe; dbSNP:rs28935493).
P06280	356	356	R -> Q (in FD; has 15% of wild-type activity).
P06280	356	356	R -> W (in FD; severe).
P06280	358	358	E -> A (in FD).
P06280	358	358	E -> K (in FD).
P06280	358	358	Missing (in FD).
P06280	360	360	G -> C (in FD; has 6% of wild-type activity).
P06280	361	361	G -> R (in FD; severe; dbSNP:rs28935494).
P06280	363	363	R -> H (in FD).
P06280	373	373	G -> D (in FD).
P06280	373	373	G -> S (in FD).
P06280	377	377	A -> D (in FD).
P06280	378	378	C -> Y (in FD).
P06280	383	383	Missing (in FD; severe; with facial telangiectasias).
P06280	396	396	F -> Y (in RNA edited version).
P06280	404	404	Missing (in FD; mild).
P06280	409	409	P -> A (in FD).
P06280	409	409	P -> T (in FD).
P06280	410	410	T -> A (in FD; mild).
P06280	414	414	L -> S (in FD).
Q9UPQ3	82	82	S -> G (in an autistic patient).
Q9UPQ3	148	148	D -> G (in dbSNP:rs17855721).
Q9UPQ3	522	522	P -> L (in dbSNP:rs17840725).
Q9UPQ3	671	671	V -> I (in dbSNP:rs2034648).
Q9UPQ3	798	798	R -> G (in an autistic patient).
Q9UPQ3	829	829	E -> K (in dbSNP:rs15718).
Q9UPQ3	854	854	P -> T (in a family with an autistic patient).
Q99490	339	339	T -> A (in a breast cancer sample; somatic mutation).
Q99490	455	455	V -> A (in a glioblastoma cell line).
Q99490	507	507	G -> S (in dbSNP:rs2301553).
Q99490	518	518	R -> G (in a sarcoma cell line).
Q99490	568	568	T -> I (in a neuroblastoma cell line).
Q99490	651	651	A -> V (in a glioblastoma cell line).
Q99490	767	767	E -> V (in a glioblastoma cell line).
Q99490	816	816	D -> Y (in a breast cancer sample; somatic mutation).
Q99490	939	939	N -> D (in a glioblastoma cell line).
Q99490	947	947	V -> M (in a sarcoma cell line).
Q99490	1022	1022	S -> P (in a glioblastoma cell line).
Q99490	1124	1124	G -> V (in dbSNP:rs238521).
Q96P64	661	661	K -> E (in dbSNP:rs15718).
O95081	365	365	T -> N (in dbSNP:rs34731997).
Q8N302	133	133	E -> K (in KTS; in 5 patients; displays a stronger angiogenic activity; dbSNP:rs34203073).
Q8N302	180	180	T -> A (in dbSNP:rs9715897).
Q8N302	471	471	L -> P (in dbSNP:rs17856835).
Q8N302	698	698	P -> T (in dbSNP:rs34400049).
Q53H12	3	3	V -> M (in dbSNP:rs10262855).
P56526	27	28	TT -> LL (in strain: GN-8).
P56526	42	42	D -> A (in strain: GN-8).
P56526	929	929	N -> M (in strain: GN-8).
Q9UIY2	466	466	D -> N (in allele PGM3*2; dbSNP:rs473267).
Q8T3N2	714	714	S -> R (in strain: 186).
Q8T3N2	740	740	S -> P (in strain: 130).
Q8T3N2	783	783	S -> N (in strain: 138, 140 and 196).
Q8T3N2	835	835	T -> A (in strain: 128, 130, 138, 140, 141, 186, 187 and 196).
Q8T3N2	854	854	S -> T (in strain: 128, 130, 138, 140, 141, 186, 187 and 196).
Q8T3N2	866	866	D -> E (in strain: 128, 130, 141, 186 and 187).
O00468	1666	1666	V -> I (in dbSNP:rs17160775).
P25304	314	314	V -> VTCD (in a variant).
O00253	67	67	A -> T (in obesity; late onset; dbSNP:rs5030980).
Q9BYV1	102	102	S -> I (in dbSNP:rs37370).
Q9BYV1	102	102	S -> N (in dbSNP:rs37370).
Q9BYV1	102	102	S -> T (in dbSNP:rs37370).
Q9BYV1	132	132	G -> R (in dbSNP:rs16870794).
Q9BYV1	140	140	V -> I (in dbSNP:rs37369).
Q9BYV1	212	212	T -> I (in dbSNP:rs180749).
Q9BYV1	492	492	P -> R (in dbSNP:rs17245714).
Q9BYV1	498	498	V -> L (in dbSNP:rs16899974).
P30556	48	48	L -> V (in dbSNP:rs2011425).
P30556	163	163	A -> T (in dbSNP:rs12721226).
P30556	244	244	A -> S (in dbSNP:rs12721225).
P30556	282	282	T -> M (in RTD).
P30556	289	289	C -> W (in dbSNP:rs1064533).
P30556	336	336	T -> P (in dbSNP:rs1801021).
P50052	231	231	Y -> H (in dbSNP:rs3729977).
P50052	248	248	R -> K (in dbSNP:rs5191).
P50052	268	268	C -> W (in dbSNP:rs1042860).
Q5TGY3	935	935	A -> T (in dbSNP:rs4908364).
Q8N157	49	49	I -> N.
Q8N157	443	443	V -> D (in JBTS3).
Q8N157	548	548	R -> H (in dbSNP:rs35433555).
Q8N157	723	723	R -> Q (in JBTS3).
Q8N157	761	761	S -> L.
Q8N157	830	830	R -> W (in dbSNP:rs13312995).
Q8N157	856	856	T -> S.
Q8N157	933	933	Y -> C (in dbSNP:rs41288013).
Q8N157	1018	1018	Q -> P (in dbSNP:rs6940875).
Q8N157	1123	1123	S -> F.
Q8N157	1140	1140	P -> S.
Q9M3H5	53	53	N -> S (in strain: cv. Landsberg erecta).
Q9M3H5	105	105	M -> V (in strain: cv. Landsberg erecta).
Q9M3H5	659	659	P -> S (in strain: cv. Landsberg erecta).
Q9SZW5	543	760	Missing (in strain: cv. Columbia).
Q9SZC9	215	215	T -> S (in strain: cv. Landsberg erecta).
Q9SZC9	238	239	KT -> QP (in strain: cv. Landsberg erecta).
Q9SZC9	259	259	L -> P (in strain: cv. Landsberg erecta).
Q9SZC9	384	384	P -> A (in strain: cv. Landsberg erecta).
Q9SZC9	904	904	S -> T (in strain: cv. Landsberg erecta).
Q8N3G4	525	525	T -> A (in dbSNP:rs2278607).
Q8N3G4	1266	1266	V -> M (in dbSNP:rs11850930).
Q8N3G4	1298	1298	M -> I (in dbSNP:rs2819440).
Q8N3G4	1470	1470	L -> V (in dbSNP:rs12890949).
Q8N3G4	1856	1856	E -> D (in dbSNP:rs2819435).
Q8N3G4	2107	2107	M -> V (in dbSNP:rs11846918).
Q8N3G4	2115	2115	S -> R (in dbSNP:rs2582514).
Q8N3G4	2146	2146	L -> V (in dbSNP:rs12890949).
Q8N3G4	2410	2410	K -> R (in dbSNP:rs11845746).
Q8N3G4	2429	2429	D -> E (in dbSNP:rs11160826).
Q8N3G4	2430	2430	L -> V (in dbSNP:rs2819426).
Q8N3G4	2503	2503	E -> A (in dbSNP:rs2819429).
Q8N3G4	2616	2616	V -> A (in dbSNP:rs4264326).
Q8N3G4	2862	2862	R -> S (in dbSNP:rs2582514).
Q8N3G4	3176	3176	D -> E (in dbSNP:rs11160826).
Q8N3G4	3177	3177	L -> V (in dbSNP:rs2819426).
Q8N3G4	3336	3336	P -> L (in dbSNP:rs10438247).
Q8N3G4	3363	3363	V -> A (in dbSNP:rs4264326).
Q8N3G4	3654	3654	G -> E (in dbSNP:rs28380382).
Q8N3G4	3793	3793	D -> N (in dbSNP:rs11160825).
Q8N3G4	3796	3796	V -> L (in dbSNP:rs12890949).
Q8N3G4	3869	3869	M -> V (in dbSNP:rs10438246).
Q8N3G4	3902	3902	K -> N (in dbSNP:rs2819423).
Q8N3G4	3961	3961	M -> V (in dbSNP:rs10141053).
Q8N3G4	4071	4071	I -> M (in dbSNP:rs2582511).
Q8N3G4	4085	4085	A -> V (in dbSNP:rs2013462).
Q8N3G4	4138	4138	F -> L (in dbSNP:rs2582505).
Q8N3G4	4198	4198	D -> N (in dbSNP:rs11848082).
Q8N3G4	4232	4232	K -> N (in dbSNP:rs2819423).
Q8N3G4	4278	4278	V -> A (in dbSNP:rs2819422).
Q8N3G4	4326	4326	L -> P (in dbSNP:rs2819421).
Q8N3G4	4478	4478	P -> L (in dbSNP:rs2582513).
Q8N3G4	4536	4536	M -> L (in dbSNP:rs9672139).
Q8N3G4	4664	4664	T -> A (in dbSNP:rs4465542).
Q8N3G4	5028	5028	L -> M (in dbSNP:rs9672139).
Q8N3G4	5072	5072	G -> R (in dbSNP:rs2819420).
Q8N3G4	5139	5139	G -> E (in dbSNP:rs61421370).
Q8N3G4	5184	5184	Y -> D (in dbSNP:rs2819419).
Q8N3G4	5397	5397	P -> A (in dbSNP:rs3742935).
Q8N3G4	5564	5564	G -> R (in dbSNP:rs2819420).
Q8N3G4	5732	5732	T -> M (in dbSNP:rs748358).
Q09666	962	962	G -> V (in dbSNP:rs664761).
Q09666	2114	2114	A -> T (in dbSNP:rs1298288).
Q09666	2247	2247	K -> T (in dbSNP:rs61524789).
Q09666	2439	2439	P -> L (in dbSNP:rs11824660).
Q09666	3003	3003	Q -> K (in dbSNP:rs566144).
Q09666	3190	3190	V -> I (in dbSNP:rs11231129).
Q09666	3724	3724	S -> P (in dbSNP:rs11231128).
Q09666	4304	4304	D -> G (in dbSNP:rs11828907).
Q09666	4561	4561	G -> D (in dbSNP:rs12795508).
Q09666	4611	4611	M -> V (in dbSNP:rs12801302).
Q09666	4613	4613	I -> V (in dbSNP:rs12801153).
Q09666	4631	4631	D -> G (in dbSNP:rs12801123).
Q09666	5415	5415	T -> A (in dbSNP:rs11231126).
A9YTQ3	114	114	L -> P (in dbSNP:rs35008248).
A9YTQ3	189	189	A -> P (in dbSNP:rs2292596).
A9YTQ3	373	373	G -> V (in dbSNP:rs2303738).
A9YTQ3	627	627	D -> H (in dbSNP:rs34453673).
P35869	517	517	P -> S.
P35869	554	554	R -> K (in dbSNP:rs2066853).
P35869	570	570	V -> I (in dbSNP:rs4986826).
P35869	786	786	M -> V.
P30561	324	324	M -> I (in allele AHRB1; no increase in specific ligand binding).
P30561	348	348	F -> L (in allele AHRB1 and allele AHRD; no reduction in specific ligand binding).
P30561	375	375	A -> V (in allele AHRD; reduced specific ligand binding).
P30561	471	471	P -> L (in allele AHRB1; no increase in specific ligand binding).
P30561	533	533	N -> S (in allele AHRB1; no increase in specific ligand binding).
P30561	589	589	M -> I (in allele AHRD).
P30561	589	589	M -> L (in allele AHRB1; no increase in specific ligand binding).
P30561	758	758	T -> A (in allele AHRB1 and allele AHRD).
P30561	806	848	Missing (in allele AHRB1).
P30561	808	808	I -> V (in allele AHRB3).
P30561	821	821	G -> D (in allele AHRB3).
P30561	824	824	A -> V (in allele AHRB3).
P30561	843	848	TPGGFL -> SHLVGSCSSHARMKFIQEQDTGTVRVGHQYY FSKTFDSCI (in allele AHRB3).
P41738	497	497	V -> A (in strain: Han/Wistar, Han/ Wistar-dv, Han/Wistar-siv and Han/Wistar- liv).
P41738	766	808	Missing (in strain: Han/Wistar-dv).
P41738	809	853	FQSPSILNEAYSADLSSIGHLQTAAHLPRLAEAQPLPDITP SGFL -> IRAFYRE (in strain: Han/Wistar- siv and Han/Wistar-liv).
Q719I0	248	248	M -> T (in a breast cancer sample; somatic mutation).
Q9NZD4	100	100	P -> T (in dbSNP:rs36018996).
Q8NCW5	19	19	V -> L (in dbSNP:rs7516274).
Q9GZX7	24	24	R -> W (in HIGM2).
Q9GZX7	25	25	R -> C.
Q9GZX7	80	80	W -> R (in HIGM2).
Q9GZX7	106	106	L -> P (in HIGM2).
Q9GZX7	139	139	M -> V (in HIGM2).
Q9GZX7	151	151	F -> S (in HIGM2).
P55008	14	14	G -> R (in dbSNP:rs2736182).
Q9BRQ8	135	135	M -> T (in dbSNP:rs10999147).
Q9BRQ8	288	288	D -> N (in dbSNP:rs2271694).
Q96NN9	508	508	S -> T (in dbSNP:rs61356271).
Q9NVV5	151	151	Q -> E (in dbSNP:rs1053193).
Q8N1P7	249	249	S -> N (in dbSNP:rs10751735).
Q9Y4K1	267	267	G -> D (in dbSNP:rs11968933).
Q9Y4K1	293	293	Q -> P (in dbSNP:rs1159148).
Q9Y4K1	491	491	C -> R (in dbSNP:rs3747787).
Q9Y4K1	1096	1096	L -> V (in dbSNP:rs1350902).
Q9Y4K1	1196	1196	E -> A (in dbSNP:rs783396).
Q9Y4K1	1395	1395	C -> Y (in dbSNP:rs2297970).
Q9Y4K1	1445	1445	T -> S (in dbSNP:rs1676015).
O14862	32	32	E -> K (in dbSNP:rs2276405).
O14862	304	304	C -> Y.
Q12904	79	79	P -> A (in dbSNP:rs1134648).
Q12904	104	104	T -> A (in dbSNP:rs2230254).
Q12904	117	117	T -> A (in dbSNP:rs2230255).
Q13155	92	92	I -> V (in a lung cancer cell line; reduced interaction with TP53, loss of TP53 activation and loss of proapoptotic activity).
Q13155	97	99	EPT -> DLS (in a lung cancer cell line; no effect on proapoptotic activity).
Q13155	129	129	A -> G (in dbSNP:rs17855441).
Q13155	166	166	L -> I (in dbSNP:rs34525431).
Q13155	209	209	G -> S (in a lung cancer cell line; no effect on proapoptotic activity).
Q16352	92	92	T -> S (in dbSNP:rs1063455).
Q16352	110	110	E -> Q (in a breast cancer sample; somatic mutation).
Q16352	149	149	D -> H (in dbSNP:rs1063456).
Q9NZN9	33	33	V -> A (in dbSNP:rs16955859).
Q9NZN9	90	90	D -> H (in dbSNP:rs12449580).
Q9NZN9	134	134	Y -> F (in dbSNP:rs16955851).
Q9NZN9	239	239	C -> R (in LCA4; no significant effect on interaction with NUB1).
O00170	16	16	R -> H.
O00170	47	54	Missing (in FIPA patients; uncertain pathogenicity).
O00170	228	228	Q -> K (in dbSNP:rs641081).
O00170	241	241	K -> E (in FIPA patients; uncertain pathogenicity).
O00170	248	248	Missing (in a ACTH-secreting pituitary adenoma patient; uncertain pathogenicity).
O00170	271	271	R -> W (in FIPA patients; uncertain pathogenicity).
O00170	304	304	R -> Q (in a ACTH-secreting pituitary adenoma patient).
O00170	307	307	Q -> R (in dbSNP:rs4930199).
O43918	15	15	R -> C (in APECED).
O43918	15	15	R -> L (in APECED; enzymatic activity of approximately 30% of that of the wild- type).
O43918	16	16	T -> M (in APECED; enzymatic activity of approximately 10% of that of the wild- type).
O43918	21	21	A -> V (in APECED).
O43918	22	23	Missing (in APECED; lack of alpha- galactosidase enzymatic activity; lack of homodimerization).
O43918	28	28	L -> P (in APECED; abolishes association with cytoplasmic tubular structures and homodimerization).
O43918	29	29	L -> P (in APECED).
O43918	77	77	F -> S (in APECED; lack of alpha- galactosidase enzymatic activity; lack of homodimerization).
O43918	78	78	W -> R (in APECED; lack of alpha- galactosidase enzymatic activity; lack of homodimerization).
O43918	80	80	V -> L (in APECED).
O43918	83	83	K -> E (in APECED).
O43918	85	85	Y -> C (in APECED).
O43918	90	90	Y -> C (in APECED).
O43918	93	93	L -> R (in APECED).
O43918	228	228	G -> W (in APECED; changes the subcellular localization and in addition disrupts the transactivating capacity of the wild-type AIRE; acts with a dominant negative effect by binding to the wild- type AIRE thus preventing the protein from forming the complexes needed for transactivation).
O43918	252	252	P -> L (in APECED; dbSNP:rs34397615).
O43918	278	278	S -> R (in dbSNP:rs1800520).
O43918	301	301	V -> M (in APECED; no effect on protein structure or on interaction with histone H3).
O43918	305	305	G -> S.
O43918	311	311	C -> Y (in APECED; impairs zinc binding and folding of the PHD-type 1 zinc finger).
O43918	326	326	P -> L (in APECED; no significant effect on structure, but may alter protein interactions).
O43918	326	326	P -> Q (in APECED; alters folding of the PHD-type 1 zinc finger).
O43918	539	539	P -> L (in APECED).
Q9UKB5	263	263	G -> R (in dbSNP:rs242056).
P14550	52	52	N -> S (reduced activity towards daunorubicin; dbSNP:rs2229540).
P14550	55	55	E -> D (reduced activity towards daunorubicin; dbSNP:rs6690497).
P50578	165	165	S -> N.
O60218	87	87	P -> S (in dbSNP:rs2303312).
O60218	286	286	M -> T (in dbSNP:rs3735042).
O60218	313	313	D -> N (in dbSNP:rs4728329).
Q04828	170	170	R -> H (in dbSNP:rs17295755).
Q04828	172	172	Q -> L (in dbSNP:rs17354444).
P52895	46	46	F -> Y (in dbSNP:rs2854482).
P52895	172	172	L -> Q (in dbSNP:rs11474).
Q9UKL9	5	5	Q -> H (in dbSNP:rs12529).
Q9UKL9	66	66	R -> Q (in dbSNP:rs35961894).
Q9UKL9	77	77	E -> G (in dbSNP:rs41306308).
Q9UKL9	170	170	R -> C (in dbSNP:rs35575889).
Q9UKL9	175	175	M -> I (no effect on 17beta-HSD activity; dbSNP:rs1131132).
Q9UKL9	180	180	P -> S (in dbSNP:rs34186955).
P17516	135	135	G -> E (in dbSNP:rs11253043).
P17516	145	145	S -> C (in dbSNP:rs3829125).
P17516	170	170	C -> Y (in dbSNP:rs17851824).
P17516	250	250	R -> Q (in dbSNP:rs4880718).
P17516	311	311	L -> V (in dbSNP:rs17134592).
P51857	106	106	L -> F (in CBAS2).
P51857	133	133	P -> R (in CBAS2).
P51857	198	198	P -> L (in CBAS2).
P51857	261	261	R -> C (in CBAS2).
P27725	330	330	G -> D (in strain: Sr41 / 8000, Sr41 / HNr21; loss of feedback inhibition).
P27725	352	352	S -> F (in strain: Sr41 / TLr156; loss of feedback inhibition).
P27725	479	479	A -> T (in strain: Sr41 / HNr59; Thr- resistant HDI).
O43572	249	249	R -> H (in dbSNP:rs2108978).
O43572	646	646	I -> V (in dbSNP:rs203462).
Q9UKA4	721	721	S -> C (in dbSNP:rs2236364).
Q9UKA4	1070	1070	H -> R (in dbSNP:rs17063163).
Q9UKA4	1410	1410	L -> F (in dbSNP:rs17063167).
Q02952	117	117	E -> K (in dbSNP:rs10872670).
Q02952	216	216	K -> Q (in dbSNP:rs3734799).
Q02952	240	240	E -> K (in a colorectal cancer sample; somatic mutation).
Q02952	920	920	E -> G (in dbSNP:rs13212161).
Q02952	987	987	A -> S (in dbSNP:rs1042069).
Q02952	1096	1096	V -> I (in dbSNP:rs3734797).
Q02952	1296	1296	R -> L (in dbSNP:rs9478198).
Q02952	1355	1355	E -> K (in dbSNP:rs12201388).
Q02952	1600	1600	E -> D (in dbSNP:rs3823310).
Q02952	1689	1689	E -> D (in dbSNP:rs3734795).
Q9P0M2	4	4	E -> K (in dbSNP:rs7771473).
Q9P0M2	193	193	S -> N (in dbSNP:rs1190788).
Q92667	18	18	A -> V (in dbSNP:rs17761023).
Q92667	60	60	V -> M (in dbSNP:rs2230770).
Q92667	102	102	C -> Y (in dbSNP:rs2230771).
Q92667	124	124	R -> C (in dbSNP:rs17833723).
Q9Y2D5	561	561	L -> S (in dbSNP:rs914358).
O75969	118	118	G -> E (in dbSNP:rs2072355).
O75969	464	464	T -> S (in dbSNP:rs11063266).
O75969	500	500	I -> T (in dbSNP:rs12366671).
O75969	525	525	E -> K (in dbSNP:rs1990312).
O75969	661	661	I -> T (in dbSNP:rs1990313).
O75969	700	700	S -> F (in dbSNP:rs2041291).
O75969	700	700	S -> P (in dbSNP:rs2041290).
O75969	725	725	S -> L (in dbSNP:rs2072357).
O75969	831	831	R -> C (in a colorectal cancer sample; somatic mutation).
Q5JQC9	233	233	H -> R (in dbSNP:rs17174078).
Q5JQC9	673	673	A -> G (in dbSNP:rs12012704).
P24588	100	100	P -> L (in dbSNP:rs2230491).
P24588	203	203	T -> I (in dbSNP:rs1256149).
P24588	314	314	E -> K (in dbSNP:rs34433837).
Q13023	337	337	A -> V (in dbSNP:rs3742926).
Q13023	408	408	N -> S (in dbSNP:rs17099240).
Q13023	558	558	N -> D (in dbSNP:rs35210906).
Q13023	892	892	E -> K (in dbSNP:rs34572259).
Q13023	910	910	K -> M (in a breast cancer sample; somatic mutation).
Q13023	1192	1192	M -> I (in a breast cancer sample; somatic mutation).
Q13023	1492	1492	A -> V (in dbSNP:rs11845640).
Q13023	1516	1516	T -> A (in dbSNP:rs17099587).
Q13023	1522	1522	V -> I (in dbSNP:rs34711402).
Q13023	1702	1702	E -> Q (in a breast cancer sample; somatic mutation).
Q13023	1839	1839	P -> T (in a colorectal cancer sample; somatic mutation).
Q13023	2035	2035	N -> D (in dbSNP:rs1051695).
Q13023	2171	2171	F -> Y (in dbSNP:rs4647899).
Q13023	2209	2209	D -> H (in dbSNP:rs4402458).
Q13023	2267	2267	E -> D (in dbSNP:rs35977369).
O43823	664	664	Q -> H (in a breast cancer sample; somatic mutation).
Q9UQH3	475	475	M -> I (in dbSNP:rs6964587).
Q9UQH3	1347	1347	K -> KQ.
Q9UQH3	1582	1582	S -> L (in LQT11).
Q9UQH3	2421	2421	M -> I (in a colorectal cancer sample; somatic mutation).
Q9UQH3	2496	2496	K -> R (in dbSNP:rs35759833).
Q9UQH3	2804	2804	N -> S (in dbSNP:rs6960867).
Q9UQH3	2983	2983	P -> S (in dbSNP:rs1063242).
Q9UQH3	3301	3301	E -> Q (in a breast cancer sample; somatic mutation).
Q9UQH3	3448	3448	Q -> R (in dbSNP:rs34956633).
Q9UQH3	3618	3618	M -> V (in dbSNP:rs34327395).
Q5T2L2	50	50	R -> H (in dbSNP:rs7097295).
Q96JD6	52	52	C -> G (in dbSNP:rs35429729).
Q96JD6	86	86	K -> R (in dbSNP:rs17133693).
Q495B1	355	355	K -> E (in dbSNP:rs34988193).
Q9P2G1	1016	1016	L -> M (in dbSNP:rs38794).
Q9NWT8	107	107	Q -> H (in dbSNP:rs3736374).
Q64FY2	624	624	P -> L (in dbSNP:rs3748176).
Q64FY2	1097	1097	Q -> R (in dbSNP:rs1265891).
Q64FY2	1119	1119	R -> Q (in dbSNP:rs3748178).
Q64FY2	1303	1303	S -> P (in dbSNP:rs2250242).
Q64FY2	1327	1327	Y -> C (in dbSNP:rs2787344).
Q5T1N1	61	61	N -> S (in dbSNP:rs1277207).
Q5T1N1	104	104	A -> V (in dbSNP:rs17621411).
Q5T1N1	167	167	E -> G (in dbSNP:rs17852793).
Q5T1N1	255	255	H -> Y (in dbSNP:rs9440631).
Q5T1N1	352	352	L -> V (in dbSNP:rs11580913).
Q5T1N1	582	582	G -> V (in dbSNP:rs12060255).
Q5T1N1	616	616	N -> K (in dbSNP:rs7551421).
Q5T1N1	654	654	C -> Y (in dbSNP:rs7522157).
Q9Y5T6	452	452	M -> T (in dbSNP:rs2061821).
Q9Y5T6	494	494	W -> R (in dbSNP:rs2061822).
Q9Y5T6	526	526	K -> Q (in dbSNP:rs34434221).
Q9Y5T6	574	574	R -> C (in dbSNP:rs2061824).
Q9Y5T6	624	624	G -> V (in dbSNP:rs745191).
Q9Y5T6	689	689	E -> K (in dbSNP:rs7177107).
Q9Y5T6	845	845	V -> A (in dbSNP:rs4075256).
Q9Y5T6	897	897	V -> M (in dbSNP:rs4075254).
Q9Y5T6	1062	1062	P -> A (in dbSNP:rs4843074).
Q9Y5T6	1086	1086	D -> N (in dbSNP:rs4843075).
Q9Y5T6	1216	1216	M -> T (in dbSNP:rs7162168).
Q9Y5T6	1525	1525	S -> G (in dbSNP:rs35079107).
Q9Y5T6	2457	2457	G -> S (in dbSNP:rs2241268).
Q9Y5T6	2801	2801	A -> T (in dbSNP:rs2614668).
P31749	17	17	E -> K (in breast cancer, colorectal cancer and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).
P31749	167	167	V -> A (in dbSNP:rs11555433).
P31751	188	188	I -> V (in dbSNP:rs55859611).
P31751	208	208	R -> K (in dbSNP:rs35817154).
Q9Y243	171	171	G -> R (in a glioblastoma multiforme sample; somatic mutation).
Q96B36	47	47	A -> P (in dbSNP:rs17850191).
P00352	121	121	N -> S (in dbSNP:rs1049981).
P00352	125	125	G -> R (in dbSNP:rs11554423).
P00352	177	177	I -> F (in dbSNP:rs8187929).
O94788	50	50	E -> G (in dbSNP:rs34266719).
O94788	110	110	A -> V (in dbSNP:rs35365164).
O94788	348	348	V -> I (in dbSNP:rs4646626).
O94788	436	436	E -> K (in dbSNP:rs34744827).
P47895	386	386	M -> V (in dbSNP:rs3803430).
P30837	86	86	A -> V (in allele ALDHA1B1*2; dbSNP:rs2228093).
P30837	107	107	L -> R (in allele ALDHA1B1*3; dbSNP:rs2073478).
P30837	202	202	T -> I (in dbSNP:rs4646773).
P30837	253	253	M -> V (in dbSNP:rs4878199).
Q60I27	29	29	Q -> R (in dbSNP:rs59661801).
Q60I27	45	45	E -> Q (in dbSNP:rs7642448).
Q60I27	280	280	Q -> E (in a breast cancer sample; somatic mutation).
Q60I27	576	576	L -> F (in a breast cancer sample; somatic mutation).
Q53TS8	123	123	K -> M (in a colorectal cancer sample; somatic mutation).
Q53TS8	376	376	H -> Q (in dbSNP:rs10804117).
Q96Q35	43	43	V -> L (in dbSNP:rs13014235).
P30838	134	134	A -> S (in dbSNP:rs887241).
P30838	309	309	G -> E (in dbSNP:rs3744692).
P30838	329	329	P -> A (in allele ALDH3A1*2; dbSNP:rs2228100).
P47739	88	88	G -> R (in allele Ald3a1c).
P47739	154	154	I -> N (in allele Ald3a1c).
P47739	305	305	H -> R (in allele Ald3a1c).
P47739	352	352	I -> V (in allele Ald3a1c).
P51648	45	45	I -> F (in SLS; severe loss of activity).
P51648	64	64	V -> D (in SLS; severe loss of activity).
P51648	106	106	L -> R (in SLS; severe loss of activity).
P51648	114	114	P -> L (in SLS; severe loss of activity).
P51648	121	121	P -> L (in SLS; severe loss of activity).
P51648	184	184	T -> M (in SLS; severe loss of activity).
P51648	184	184	T -> R (in SLS; severe loss of activity).
P51648	185	185	G -> A (in SLS; severe loss of activity).
P51648	214	214	C -> Y (in SLS; 4% of activity).
P51648	226	226	C -> W (in SLS).
P51648	228	228	R -> C (in SLS; severe loss of activity).
P51648	237	237	C -> Y (in SLS; severe loss of activity).
P51648	245	245	D -> N (in SLS; severe loss of activity; originally thought to be a neutral polymorphism).
P51648	266	266	K -> N (in SLS; mild reduction of activity; the underlying nucleotide substitution affects transcript stability).
P51648	279	279	Y -> N (in SLS; severe loss of activity).
P51648	314	315	AP -> GAKSTVGA (in SLS; 8% of activity).
P51648	315	315	P -> S (in SLS; common mutation in Europeans; severe loss of enzymatic activity).
P51648	328	328	M -> I (in SLS).
P51648	365	365	S -> L (in SLS; severe loss of activity).
P51648	386	386	N -> S (in SLS).
P51648	406	406	G -> R (in SLS).
P51648	411	411	H -> Y (in SLS; severe loss of activity).
P51648	412	412	G -> R (in SLS).
P51648	415	415	S -> N (in SLS; severe loss of activity).
P51648	419	419	F -> S (in SLS; severe loss of activity).
P51648	423	423	R -> H (in SLS; severe loss of activity).
P51648	447	447	K -> E (in SLS; severe loss of activity).
P48448	50	50	A -> T (in dbSNP:rs3741178).
P48448	52	52	S -> N (in dbSNP:rs1551888).
P48448	203	203	H -> R (in dbSNP:rs6591270).
P48448	220	220	S -> G (in dbSNP:rs2447571).
P48448	276	276	R -> W (in dbSNP:rs17856219).
P48448	302	302	S -> R (in dbSNP:rs4646826).
P48448	361	361	H -> R (in dbSNP:rs1551886).
P30038	16	16	P -> L (in allele ALDH4A1*4).
P30038	352	352	S -> L (in HP2; allele ALDH4A1*3).
P30038	470	470	V -> I (in dbSNP:rs2230709).
P30038	473	473	T -> A (in dbSNP:rs6695033).
P49419	199	199	A -> V (in PDE).
P49419	412	412	T -> A (in dbSNP:rs2306618).
P49419	427	427	E -> Q (in PDE).
P49419	439	439	K -> Q (in dbSNP:rs12514417).
Q9H2A2	402	402	F -> S (in dbSNP:rs2294315).
Q8BH00	145	145	V -> G (in strain: FVB/N).
P49189	116	116	C -> S (in allele ALDH9A1*2).
P24298	14	14	H -> N (in allele GPT*2; dbSNP:rs1063739).
P08688	58	59	TV -> YI.
P71011	91	91	Q -> L (in strain: ATCC 6633).
P71011	96	96	I -> V (in strain: ATCC 6633).
P71011	99	108	GNRASRHTIT -> ENQSTRHAIN (in strain: ATCC 6633).
P71011	214	214	T -> A (in strain: ATCC 6633).
P71011	232	232	V -> I (in strain: ATCC 6633).
P71011	309	309	D -> N (in strain: ATCC 6633).
P71011	322	323	HV -> NI (in strain: ATCC 6633).
P71011	412	412	G -> S (in strain: ATCC 6633).
P71009	22	22	Q -> H (in strain: ATCC 6633).
P71009	57	57	F -> Y (in strain: ATCC 6633).
P71009	60	60	R -> G (in strain: ATCC 6633).
P71009	82	82	T -> I (in strain: ATCC 6633).
P71009	117	117	Q -> R (in strain: ATCC 6633).
P71009	187	187	A -> E (in strain: ATCC 6633).
P71009	207	207	Y -> F (in strain: ATCC 6633).
P02769	214	214	A -> T.
Q9P157	23	23	R -> C (in Redhill/Malmo-I/Tradate; associated with T-344 in Redhill).
Q9P157	23	23	R -> H (in Fukuoka-2/Lille/Taipei/Varese/ Komagome-3).
Q9P157	24	24	R -> L (in Jaffna).
Q9P157	24	24	R -> P (in Takefu/Honolulu-1).
Q9P157	24	24	R -> Q (in Christchurch/Honolulu-2).
Q9P157	25	25	D -> V (in Bleinheim/Iowa city-2).
Q9P157	27	27	H -> Q (in Nagasaki-3).
Q9P157	27	27	H -> Y (in Larino).
Q9P157	73	73	F -> Y.
Q9P157	84	84	E -> K (in Torino).
Q9P157	87	87	D -> N (in Malmo-95/Dalakarlia).
Q9P157	90	90	L -> P (in FDH).
Q9P157	106	106	E -> K (in Vibo Valentia).
Q9P157	121	121	E -> G.
Q9P157	138	138	R -> G (in Yanomama-2).
Q9P157	143	143	E -> K (in Nagoya).
Q9P157	146	146	V -> E (in Tregasio).
Q9P157	152	152	H -> R (in Komagome-2).
Q9P157	201	201	C -> F (in Hawkes bay).
Q9P157	215	215	A -> T (in dbSNP:rs3210154).
Q9P157	215	215	A -> V (in dbSNP:rs3204504).
Q9P157	220	220	Q -> L (in dbSNP:rs3210163).
Q9P157	242	242	R -> H (in FDH).
Q9P157	242	242	R -> P (in FDH).
Q9P157	249	249	K -> Q (in Tradate-2).
Q9P157	264	264	K -> E (in Herborn).
Q9P157	292	292	Q -> R (in Malmo-10).
Q9P157	293	293	D -> G (in Nagasaki-1).
Q9P157	300	300	K -> N (in Caserta).
Q9P157	337	337	K -> N (in Canterbury/New Guinea/ Tagliacozzo/Cuneo/Cooperstown).
Q9P157	338	338	D -> G (in Bergamo).
Q9P157	338	338	D -> V (in Brest).
Q9P157	342	342	N -> K (in Malmo-47).
Q9P157	344	344	A -> T (in Redhill; associated with C- 23).
Q9P157	345	345	E -> K (in Roma).
Q9P157	357	357	E -> K (in Sondrio).
Q9P157	378	378	E -> K (in Hiroshima-1).
Q9P157	382	382	E -> K (in Coari I/Porto Alegre).
Q9P157	383	383	K -> N (in Trieste).
Q9P157	389	389	D -> H (in Parklands).
Q9P157	389	389	D -> V (in Iowa city-1).
Q9P157	396	396	K -> E (in Naskapi/Mersin/Komagome-1).
Q9P157	399	399	D -> N (in Nagasaki-2).
Q9P157	400	400	E -> K (in Tochigi).
Q9P157	400	400	E -> Q (in Malmo-5).
Q9P157	406	406	E -> K (in Hiroshima-2).
Q9P157	420	420	E -> K.
Q9P157	434	434	R -> C (in Liprizzi).
Q9P157	490	490	K -> E (in dbSNP:rs1063469).
Q9P157	503	503	E -> K (in Dublin).
Q9P157	518	518	D -> N (in Casebrook).
Q9P157	525	525	E -> K (in Manaus-1/Adana/Lambadi/ Vancouver).
Q9P157	529	529	E -> K (in Ortonovo).
Q9P157	557	557	V -> M (in Maddaloni).
Q9P157	560	560	K -> E (in Castel di Sangro).
Q9P157	565	565	K -> E (in Maku).
Q9P157	574	574	D -> A (in Malmo-61).
Q9P157	574	574	D -> G (in Mexico).
Q9P157	584	584	K -> E (in Church bay).
Q9P157	587	587	D -> N (in Fukuoka-1/Paris-2).
Q9P157	589	589	E -> K (in Osaka-1).
Q9P157	594	594	E -> K (in Osaka-2/Phnom Phen/albumin B/ Verona).
Q9P157	596	609	GKKLVAASQAALGL -> PTMRIRERK (in Venezia).
Q9P157	597	597	K -> E (in Gent/Milano Fast).
Q9P157	598	598	K -> N (in Vanves).
Q9P157	599	609	LVAASQAALGL -> TCCCKSSCLRLITSHLKASQPTMRIR ERK (in Kenitra).
P02770	262	262	V -> L.
P23616	26	28	Missing (in some forms).
P12762	1	1	A -> L.
P12762	1	1	A -> S.
P05091	337	337	E -> V (in dbSNP:rs1062136).
P05091	496	496	E -> K (in allele ALDH2*3).
P05091	504	504	E -> K (in allele ALDH2*2; drastic reduction of enzyme activity; dbSNP:rs671).
P11884	86	86	Q -> R (in allele Aldh2*2 and allele Aldh2*3; in strains UChA and UChB).
P11884	498	498	E -> K (in allele Aldh2*3; in strain UChB).
P04075	82	82	E -> Q (in dbSNP:rs11553107).
P04075	129	129	D -> G (in GSD12; thermolabile).
P04075	142	142	G -> V (in dbSNP:rs11553108).
P04075	207	207	E -> K (in GSD12; reduces thermal stability; 3-fold decrease in catalytic efficiency mostly due to reduced substrate affinity).
P04075	339	339	C -> Y (in GSD12).
P04075	347	347	G -> S (in GSD12; does not affect thermal stability; 4-fold decrease in catalytic efficiency due to reduced enzyme activity).
P05062	74	74	I -> T (in HFI; affects proper folding).
P05062	120	121	Missing (in HFI).
P05062	134	134	R -> S (in dbSNP:rs10123355).
P05062	135	135	C -> R (in HFI; America; partial activity).
P05062	148	148	W -> R (in one subject with fructose intolerance; rare variant; America).
P05062	150	150	A -> P (in HFI; frequent mutation; dbSNP:rs1800546).
P05062	175	175	A -> D (in HFI; frequent mutation).
P05062	178	178	C -> R (in HFI).
P05062	185	185	P -> R (in HFI).
P05062	207	207	E -> Q (in dbSNP:rs3739721).
P05062	222	222	V -> F (in HFI; affects proper folding).
P05062	229	229	L -> P (in HFI; affects proper folding).
P05062	257	257	L -> P (in HFI; Italy).
P05062	268	268	I -> N (in dbSNP:rs10989495).
P05062	284	284	L -> P (in HFI).
P05062	304	304	R -> Q (in HFI; 100-fold decrease in catalytic efficiency for substrates FBP and F1P).
P05062	304	304	R -> W (in HFI; Turkey; 4800-fold decrease in catalytic efficiency for FBP and inactive with F1P).
P05062	335	335	N -> K (in HFI; frequent mutation).
P05062	338	338	A -> V (in HFI; Turkey and South Europe).
P16116	4	4	I -> L.
P16116	6	6	L -> I.
P15121	15	15	I -> F (in dbSNP:rs5054).
P15121	42	42	H -> L (in dbSNP:rs5056).
P15121	73	73	L -> V (in dbSNP:rs5057).
P15121	90	90	K -> E (in dbSNP:rs2229542).
P15121	204	204	G -> S (in dbSNP:rs5061).
P15121	288	288	T -> I (in dbSNP:rs5062).
P84996	201	201	R -> C (in a colorectal cancer sample; somatic mutation).
P84996	201	201	R -> H (in a colorectal cancer sample; somatic mutation).
P84996	374	374	P -> T (in GNAS hyperfunction).
P84996	375	375	P -> PQPIPTPGRPLTP (in GNAS hyperfunction).
P84996	397	397	L -> V (in GNAS hyperfunction).
Q01516	35	35	A -> W (in strain: cv. Little Marvel).
Q01517	29	29	A -> W (in strain: cv. Little Marvel).
Q2TAA5	108	108	N -> S (in dbSNP:rs17480245).
Q9BV10	67	67	T -> M (in CDG1G).
Q9BV10	101	101	G -> R (in CDG1G).
Q9BV10	142	142	F -> V (in CDG1G; dbSNP:rs28942090).
Q9BV10	146	146	R -> Q (in CDG1G).
Q9BV10	158	158	L -> P (in CDG1G).
Q9BV10	393	393	I -> V (in dbSNP:rs3922872).
Q96F25	14	14	V -> M (in dbSNP:rs11165298).
Q6GMV1	135	135	N -> D (in dbSNP:rs3828357).
Q6GMV1	159	159	I -> T (in dbSNP:rs3811679).
Q6GMV1	184	184	G -> S (in dbSNP:rs3187686).
Q9BT22	150	150	S -> R (in CDG1K; impairs activity).
Q9BT22	258	258	S -> L (in CDG1K; impairs activity; dbSNP:rs28939378).
Q9BT22	267	267	S -> N (in dbSNP:rs17849848).
Q9BT22	325	325	L -> M (in dbSNP:rs17852920).
Q9BT22	342	342	Q -> P (in CDG1K; impairs activity).
Q9BT22	429	429	D -> E (no effect on activity; dbSNP:rs9745522).
Q9BT22	438	438	R -> W (in dbSNP:rs16835020).
Q9BT22	455	455	Q -> R (in dbSNP:rs17856919).
Q9H553	11	11	S -> P (in dbSNP:rs11545137).
Q9H553	367	367	V -> A (in dbSNP:rs35626507).
Q5K8R1	7	7	F -> S (in strain: B-3501A).
Q5K8R1	8	8	T -> S (in strain: B-3501A).
Q92685	107	107	I -> V (in dbSNP:rs2233463).
Q92685	118	118	G -> D (in CDG1D; dbSNP:rs28940588).
Q92685	171	171	R -> Q (in CDG1D).
Q9Y672	131	131	Y -> H (in CDG1C; dbSNP:rs35383149).
Q9Y672	170	170	S -> I (in CDG1C).
Q9Y672	226	226	K -> N (in dbSNP:rs35604168).
Q9Y672	227	227	G -> E (in CDG1C).
Q9Y672	299	299	Missing (in CDG1C).
Q9Y672	304	304	F -> S (common polymorphism; reduces the ability to rescue defective glycosylation of an alg6-deficient strain of S. cerevisiae during rapid growth; may exacerbate the clinical severity of patients with CDG1A; dbSNP:rs4630153).
Q9Y672	308	308	S -> R (in CDG1C).
Q9Y672	333	333	A -> V (in CDG1C).
Q9Y672	444	444	Missing (in CDG1C).
Q9Y672	478	478	S -> P (in CDG1C).
Q9BVK2	47	47	T -> P (in CDG1H).
Q9BVK2	222	222	N -> S (in dbSNP:rs665278).
Q9BVK2	275	275	G -> D (in CDG1H).
Q9BVK2	439	439	I -> T (in dbSNP:rs17825668).
Q9H6U8	232	232	A -> P (in dbSNP:rs36111204).
Q9H6U8	255	255	S -> L (in dbSNP:rs17113312).
Q9H6U8	287	287	Y -> C (in CDG1L; impairs activity).
Q9H6U8	289	289	V -> I (in dbSNP:rs10502151).
Q9H6U8	506	506	P -> L.
Q9H6U8	523	523	E -> K (in CDG1L; impairs activity).
Q9H6U8	528	528	I -> S (in dbSNP:rs12575909).
P35592	7	7	F -> L (in strain: R800).
P35592	27	27	G -> D (in strain: NCTC 11906, SP-VA92, SP-496 and SP-VA96).
P35592	30	30	T -> A (in strain: R800 and R6x).
P35592	166	166	E -> D (in strain: NCTC 11906, SP-VA92, SP-496 and SP-VA96).
P35592	246	246	V -> I (in strain: R800 and R6x).
P35592	368	368	L -> I (in strain: NCTC 11906, SP-VA92, SP-496 and SP-VA96).
P35592	432	432	Q -> T (in strain: R800, R6x, NCTC 11906, SP-VA92, SP-496 and SP-VA96).
P35592	559	559	T -> A (in strain: NCTC 11906, SP-VA92, SP-496 and SP-VA96).
P35592	612	612	T -> A (in strain: SP-496).
Q13686	135	135	M -> I (in dbSNP:rs17825440).
Q13686	324	324	M -> L (in dbSNP:rs6494).
Q6NS38	203	203	R -> H (in dbSNP:rs33962311).
Q96Q83	164	164	R -> C (in dbSNP:rs2271815).
Q96Q83	228	228	D -> E (in dbSNP:rs2434470).
Q9NXW9	247	247	A -> V (in dbSNP:rs41275227).
Q9BT30	191	191	R -> Q (in dbSNP:rs7540).
Q9UM73	90	90	S -> L (in dbSNP:rs34617074).
Q9UM73	163	163	V -> L (in dbSNP:rs55697431).
Q9UM73	296	296	E -> Q (in dbSNP:rs56077855).
Q9UM73	476	476	V -> A (in dbSNP:rs35093491).
Q9UM73	560	560	L -> F (in a breast pleomorphic lobular carcinoma sample; somatic mutation).
Q9UM73	680	680	T -> I (in dbSNP:rs35228363).
Q9UM73	704	704	A -> T (in dbSNP:rs34829159).
Q9UM73	868	868	L -> Q (in dbSNP:rs55941323).
Q9UM73	877	877	A -> S (in an ovarian serous carcinoma sample; somatic mutation).
Q9UM73	1012	1012	T -> M (in dbSNP:rs35073634).
Q9UM73	1121	1121	G -> D (in dbSNP:rs55760835).
Q9UM73	1274	1274	A -> T (in dbSNP:rs45502292).
Q9UM73	1328	1328	M -> L (in dbSNP:rs56160491).
Q9UM73	1376	1376	F -> S (in dbSNP:rs17694720).
Q9UM73	1416	1416	K -> N (in dbSNP:rs55782189).
Q9UM73	1419	1419	E -> K (in dbSNP:rs56181542).
Q9UM73	1429	1429	Q -> R (in dbSNP:rs55906201).
Q9UM73	1461	1461	I -> V (in dbSNP:rs1670283).
Q9UM73	1491	1491	K -> R (in dbSNP:rs1881420).
Q9UM73	1529	1529	D -> E (in dbSNP:rs1881421).
Q9UM73	1599	1599	P -> H (in dbSNP:rs1881423).
P80207	6	6	F -> I.
P80207	20	20	R -> K.
Q95182	62	62	V -> L.
Q95182	90	90	F -> A.
Q95182	136	136	F -> L.
Q95182	146	146	S -> D.
Q95182	172	173	KI -> QT.
Q5DVS3	3	3	I -> V (in Ole e 1.0102, Ole e 1.0103 and Ole e 1.0105).
Q5DVS3	8	8	V -> I (in Ole e I.4).
Q5DVS3	12	12	H -> Y (in Ole e I.4).
Q5DVS3	13	13	I -> V (in strain: cv. Zard; variant 2. In Ole e I.4).
Q5DVS3	14	14	Q -> I (in strain: cv. Bella de Espana; variants 1 and 2, cv. Loaime, cv. Lucio, cv. Menara; variants 1 and 2, cv. Picholine marocaine and cv. Picual; variant 1).
Q5DVS3	15	15	G -> L (in strain: cv. Picual; variant 1).
Q5DVS3	15	15	G -> Q (in strain: cv. Arbequina; variants 1 and 2 and cv. Bella de Espana; variant 3).
Q5DVS3	15	15	G -> R (in strain: cv. Bella de Espana; variants 1 and 2, cv. Menara; variants 1 and 2 and cv. Picholine marocaine).
Q5DVS3	15	15	G -> S (in strain: cv. Picual; variant 3).
Q5DVS3	15	15	G -> W (in strain: cv. Loaime and cv. Picual; variant 2).
Q5DVS3	16	16	Q -> A (in strain: cv. Arbequina; variant 1).
Q5DVS3	16	16	Q -> D (in strain: cv. Arbequina; variant 2, cv. Bella de Espana; variant 3 and cv. Picual; variant 3).
Q5DVS3	16	16	Q -> R (in strain: cv. Acebuche).
Q5DVS3	16	16	Q -> T (in strain: cv. Bella de Espana; variants 1 and 2, cv. Loaime, cv. Menara; variants 1 and 2, cv. Picholine marocaine and cv. Picual; variants 1 and 2).
Q5DVS3	17	17	V -> I (in strain: cv. Rowghani; variant 3 and cv. Zard; variant 2).
Q5DVS3	17	17	V -> S (in strain: cv. Arbequina; variant 2, cv. Bella de Espana; variant 3, cv. Hojiblanca and cv. Picual; variant 3).
Q5DVS3	17	17	V -> T (in strain: cv. Acebuche).
Q5DVS3	18	18	Y -> F (in strain: cv. Bella de Espana; variant 1).
Q5DVS3	18	18	Y -> H (in strain: cv. Menara; variant 2).
Q5DVS3	18	18	Y -> S (in strain: cv. Bella de Espana; variant 2 and cv. Picual; variant 2).
Q5DVS3	18	18	Y -> V (in strain: cv. Acebuche).
Q5DVS3	19	19	C -> Q (in strain: cv. Bella de Espana; variant 2).
Q5DVS3	19	19	C -> R (in strain: cv. Arbequina; variant 2 and cv. Bella de Espana; variant 1).
Q5DVS3	19	19	C -> S (in strain: cv. Bella de Espana; variant 3).
Q5DVS3	19	19	C -> T (in strain: cv. Acebuche).
Q5DVS3	20	20	D -> G (in strain: cv. Acebuche and cv. Bella de Espana; variant 3).
Q5DVS3	20	20	D -> V (in strain: cv. Bella de Espana; variant 1).
Q5DVS3	21	21	T -> H (in strain: cv. Bella de Espana; variant 3).
Q5DVS3	21	21	T -> Y (in strain: cv. Acebuche).
Q5DVS3	23	23	R -> C (in strain: cv. Bella de Espana; variant 2).
Q5DVS3	23	23	R -> P.
Q5DVS3	24	24	A -> S (in strain: cv. Rowghani; variant 3. In Ole e 1.0105).
Q5DVS3	24	24	A -> T (in Ole e I.4).
Q5DVS3	25	25	G -> R (in strain: cv. Bella de Espana; variants 1, 2 and 3 and cv. Rowghani; variants 3 and 4. In Ole e 1.0105, Ole e I.3 and Ole e I.4).
Q5DVS3	28	28	T -> A (in strain: cv. Zard; variant 2).
Q5DVS3	30	30	L -> F (in Ole e I.4).
Q5DVS3	35	35	P -> L (in strain: cv. Zard; variant 2).
Q5DVS3	38	38	S -> G (in strain: cv. Bella de Espana; variants 1, 2 and 3, cv. Hojiblanca and cv. Zard; variant 2. In Ole e I.4).
Q5DVS3	39	39	L -> V (in strain: cv. Arbequina; variants 1 and 2, cv. Bella de Espana; variants 1, 2 and 3, cv. Hojiblanca, cv. Loaime, cv. Lucio, cv. Menara; variants 1 and 2, cv. Picholine marocaine, cv. Picual; variants 1 and 2, cv. Rowghani; variants 2, 3 and 4 and cv. Zard; variants 1 and 2. In Ole e 1.0102, Ole e 1.0103, Ole e 1.0105, Ole e I.3 and Ole e I.4).
Q5DVS3	44	44	K -> R (in strain: cv. Rowghani; variants 2, 3 and 4 and cv. Zard; variants 1 and 2. In Ole e 1.0105).
Q5DVS3	45	45	D -> E (in strain: cv. Zard; variant 1 and cv. Rowghani; variants 2 and 3. In Ole e 1.0105).
Q5DVS3	46	46	K -> G (in strain: cv. Bella de Espana; variants 1, 2 and 3, cv. Hojiblanca and cv. Rowghani; variant 4. In Ole e I.3 and Ole e I.4).
Q5DVS3	46	46	K -> I.
Q5DVS3	46	46	K -> R (in strain: cv. Arbequina; variants 1 and 2).
Q5DVS3	46	46	K -> S (in strain: cv. Zard; variant 2).
Q5DVS3	47	47	E -> K (in strain: cv. Rowghani; variant 2 and cv. Zard; variants 1 and 2).
Q5DVS3	48	48	N -> K (in strain: cv. Zard; variant 2).
Q5DVS3	50	50	D -> K (in Ole e I.4).
Q5DVS3	50	50	D -> N (in strain: cv. Bella de Espana; variants 1, 2 and 3, cv. Hojiblanca and cv. Zard; variant 2).
Q5DVS3	50	50	D -> S (in strain: cv. Rowghani; variant 4. In Ole e I.3).
Q5DVS3	51	51	V -> I (in strain: cv. Arbequina; variants 1 and 2, cv. Hojiblanca, cv. Loaime, cv. Lucio, cv. Menara; variants 1 and 2, cv. Picholine marocaine, cv. Picual; variants 1 and 2, cv. Rowghani, variants 2, 3 and 4 and cv. Zard; variants 1 and 2. In Ole e 1.0105, Ole e I.3 and Ole e I.4).
Q5DVS3	56	56	V -> I (in strain: cv. Rowghani; variant 3. In Ole e 1.0102, 1.0103 and 1.0105).
Q5DVS3	58	58	Y -> S (in strain: cv. Rowghani; variant 4).
Q5DVS3	69	69	V -> I (in strain: cv. Bella de Espana; variants 1, 2 and 3, cv. Rowghani; variant 4 and cv. Zard; variant 2. In Ole e I.3 and Ole e I.4).
Q5DVS3	75	75	N -> D (in strain: cv. Rowghani; variant 4. In Ole e I.3).
Q5DVS3	80	80	I -> V (in strain: cv. Zard; variant 2).
Q5DVS3	81	81	T -> N (in strain: cv. Zard; variant 2).
Q5DVS3	82	82	L -> S (in strain: cv. Zard; variant 2).
Q5DVS3	83	83	I -> L (in strain: cv. Bella de Espana; variants 1, 2 and 3 and cv. Zard; variant 2. In Ole e I.4).
Q5DVS3	86	86	G -> S (in strain: cv. Bella de Espana; variants 1, 2 and 3, cv. Rowghani; variant 4 and cv. Zard; variant 2. In Ole e I.3 and Ole e I.4).
Q5DVS3	87	87	R -> S.
Q5DVS3	91	91	N -> D (in strain: cv. Arbequina; variants 1 and 2, cv. Bella de Espana; variants 1, 2 and 3, cv. Hojiblanca, cv. Loaime, cv. Picual; variants 1 and 2, cv. Rowghani; variants 3 and 4 and cv. Zard; variant 2. In Ole e 1.0105, Ole e I.3 and Ole e I.4).
Q5DVS3	95	95	T -> I (in strain: cv. Rowghani; variant 3 and cv. Zard; variant 2. In Ole e 1.0105).
Q5DVS3	95	95	T -> V (in strain: cv. Bella de Espana; variants 1, 2 and 3 and cv. Rowghani; variant 4. In Ole e I.3).
Q5DVS3	99	99	A -> V (in strain: cv. Acebuche, cv. Arbequina; variants 1 and 2, cv. Bella de Espana; variants 1, 2 and 3, cv. Hojiblanca, cv. Picual; variant 3, cv. Rowghani; variants 1 and 4 and cv. Zard; variant 2. In Ole e I.2, Ole e I.3 and Ole e I.4).
Q5DVS3	100	100	K -> R (in strain: cv. Zard; variant 2).
Q5DVS3	103	103	L -> V (in Ole e I.4).
Q5DVS3	104	104	K -> R (in strain: cv. Zard; variant 2).
Q5DVS3	106	106	K -> I (in strain: cv. Acebuche, cv. Arbequina; variant 1 and 2, cv. Hojiblanca, cv. Loaime, cv. Lucio, cv. Menara; variants 1 and 2, cv. Picholine marocaine, cv. Picual; variants 1, 2 and 3, cv. Rowghani; variants 1, 2 and 3 and cv. Zard; variant 1. In Ole e 1.0102, Ole e 1.0103, Ole e 1.0105, Ole e I.2 and Ole e I.4).
Q5DVS3	106	106	K -> L (in strain: cv. Zard; variant 2).
Q5DVS3	106	106	K -> M (in strain: cv. Bella de Espana; variants 1, 2 and 3 and cv. Rowghani; variant 4. In Ole e I.3).
Q5DVS3	108	108	N -> S (in Ole e 1.0103).
Q5DVS3	111	111	N -> D.
Q5DVS3	115	115	R -> C (in strain: cv. Zard; variant 2).
Q5DVS3	117	117	V -> I (in strain: cv. Bella de Espana; variants 1, 2 and 3, cv. Hojiblanca, cv. Rowghani; variant 2 and cv. Zard; variants 1 and 2. In Ole e I.3 and Ole e I.4).
Q5DVS3	118	118	N -> K (in strain: cv. Zard; variant 2).
Q5DVS3	121	121	G -> R (in Ole e 1.0102).
Q5DVS3	123	123	F -> Y (in strain: cv. Zard; variant 1 and cv. Rowghani; variant 2. In Ole e 1.0102 and Ole e 1.0103).
Q5DVS3	125	125	K -> N (in strain: cv. Zard; variant 2).
Q5DVS3	126	126	E -> K (in strain: cv. Zard; variant 2).
Q5DVS3	132	132	A -> P (in strain: cv. Bella de Espana; variants 1, 2 and 3, cv. Rowghani; variant 4 and cv. Zard; variant 2. In Ole e I.3 and Ole e I.4).
Q5DVS3	135	135	Y -> F (in strain: cv. Bella de Espana; variants 1, 2 and 3, cv. Rowghani; variant 4 and cv. Zard; variant 2. In Ole e I.3 and Ole e I.4).
Q5DVS3	139	139	G -> D (in strain: cv. Rowghani; variant 2).
Q5DVS3	144	144	N -> D (in strain: cv. Bella de Espana; variants 1, 2 and 3, cv. Rowghani; variant 4 and cv. Zard; variant 2).
Q5DVS3	144	144	N -> T (in strain: cv. Picual; variant 3).
Q5DVS3	145	145	M -> HGMSR (in strain: cv. Acebuche).
Q5DVS3	145	145	M -> L (in strain: cv. Zard; variant 2).
Q5DVS3	145	145	M -> WNVTI (in strain: cv. Picual; variant 3).
P15322	6	6	R -> G (in 1.0101, 1.0104/SIN1, 1.0106/ SIN3 and 1.0108/SIN5).
P15322	36	36	S -> G (in 1.0103/SA2S2).
P15322	40	40	W -> L (in 1.0103/SA2S2).
P15322	41	41	T -> A (in 1.0103/SA2S2).
P15322	43	43	D -> E (in 1.0105/SIN2).
P15322	43	43	D -> Y (in 1.0103/SA2S2).
P15322	44	44	D -> G (in 1.0103/SA2S2 and 1.0105/SIN2).
P15322	61	61	R -> K (in 1.0108/SIN5).
P15322	100	100	G -> E (in 1.0101, 1.0103/SA2S2, 1.0104/ SIN1, 1.0105/SIN2 and 1.0107/SIN4).
P15322	108	108	H -> Q (in 1.0106/SIN3 and 1.0108/SIN5).
P15322	109	109	L -> V (in 1.0106/SIN3 and 1.0108/SIN5).
P15322	111	111	H -> Q (in 1.0103/SA2S2).
P15322	125	125	K -> R (in 1.0104/SIN1).
P15322	130	130	R -> P (in 1.0101, 1.0105/SIN2, 1.0106/ SIN3, 1.0107/SIN4 and 1.0108/SIN5).
P15322	138	138	K -> Q (in 1.0104/SIN1).
Q00855	93	93	M -> V (in clone 1).
Q00855	105	105	I -> A (in clone 11).
Q00855	128	128	I -> V (in clone 11).
Q00855	142	142	G -> A (in clone 11).
P49278	39	39	H -> A.
P49278	40	40	G -> L.
P49278	44	44	C -> N.
P49278	47	47	H -> S.
P49278	49	49	G -> T.
P49278	56	56	A -> Y.
P49278	57	57	V -> L.
P49278	61	61	N -> L.
P49278	64	64	T -> S.
P49278	75	75	I -> Y.
P49278	78	78	L -> C.
P49278	81	81	D -> V.
P49278	95	95	C -> P.
P49278	98	98	V -> T.
P49278	108	108	T -> V.
P49278	111	111	V -> L.
P49278	114	114	I -> N.
P49278	115	115	A -> T.
P49278	116	116	P -> A.
P49278	118	118	S -> A.
P49278	127	127	V -> L.
P49278	128	128	M -> L.
P49278	131	131	D -> N.
P49278	133	133	V -> A.
P49278	144	144	I -> L.
Q9TZZ2	21	21	I -> V (in Eur m 2 0102).
P80384	35	35	T -> S (in Lep d 2.0201 and Lep d 2.0203).
P80384	48	48	E -> Q (in Lep d 2.0201 and Lep d 2.0203).
P80384	53	53	E -> D (in Lep d 2.0201 and Lep d 2.0203).
P80384	63	63	A -> N (in Lep d 2.0201 and Lep d 2.0203).
P80384	71	71	A -> T (in Lep d 2.0103).
P80384	90	90	F -> V (in Lep d 2.0201 and Lep d 2.0203).
P80384	91	91	I -> L (in Lep d 2.0201 and Lep d 2.0203).
P80384	95	95	V -> I (in Lep d 2.0201 and Lep d 2.0203).
P80384	104	104	I -> N (in Lep d 2.0201 and Lep d 2.0203).
P80384	106	106	S -> G (in Lep d 2.0201 and Lep d 2.0203).
P80384	107	107	G -> M (in Lep d 2.0201 and Lep d 2.0203).
P80384	116	116	V -> I (in Lep d 2.0201 and Lep d 2.0203).
P80384	118	118	A -> V (in Lep d 2.0203).
P80384	125	125	I -> V (in Lep d 2.0201 and Lep d 2.0203).
P80384	136	136	V -> I (in Lep d 2.0201 and Lep d 2.0203).
P14004	61	61	E -> A.
P83563	1	4	Missing (in Api m 6.01 and Api m 6.02).
P83563	71	71	G -> GLP (in Api m 6.02 and Api m 6.04).
P83563	71	71	G -> GPL (in Api m 6.02 and Api m 6.04).
P81430	5	5	S -> G (in type B).
P81430	10	10	L -> K (in type B).
P81430	18	18	I -> K (in type B).
Q9M7R0	43	44	GV -> CA.
Q9M7R0	58	58	G -> A.
Q9M7R0	60	60	I -> M.
Q96L16	52	52	N -> S (in dbSNP:rs11885953).
Q8TCU4	671	671	V -> G (in dbSNP:rs2037814).
Q8TCU4	1412	1412	G -> A (in dbSNP:rs6546837).
Q8TCU4	1875	1875	I -> V (in dbSNP:rs6546838).
Q8TCU4	2111	2111	S -> R (in dbSNP:rs6724782).
Q8TCU4	2284	2284	R -> P (in dbSNP:rs6546839).
Q8TCU4	2574	2574	S -> N (in dbSNP:rs3820700).
Q8TCU4	2672	2672	D -> H (in dbSNP:rs2017116).
Q8TCU4	2856	2856	N -> S (in dbSNP:rs10193972).
Q8TCU4	3434	3434	K -> E (in dbSNP:rs34071195).
Q9HCF4	61	61	P -> L (in dbSNP:rs9913317).
Q9HCF4	270	270	M -> T (in dbSNP:rs17857135).
Q9HCF4	321	321	M -> T (in dbSNP:rs17853989).
Q96QP1	67	67	Q -> R (in dbSNP:rs33943680).
Q96QP1	175	175	N -> D (in dbSNP:rs6533616).
Q96QP1	292	292	T -> M (in dbSNP:rs34120296).
Q96QP1	320	320	L -> M.
Q96QP1	339	339	K -> E (in an ovarian mucinous carcinoma sample; somatic mutation).
Q96QP1	383	383	K -> E.
Q96QP1	565	565	D -> G (in dbSNP:rs2074388).
Q96QP1	642	642	H -> R (in dbSNP:rs13148353).
Q96QP1	660	660	P -> L (in dbSNP:rs35389530).
Q96QP1	681	681	G -> D (in dbSNP:rs35519493).
Q96QP1	732	732	I -> M (in dbSNP:rs2074379).
Q96QP1	861	861	T -> M (in dbSNP:rs11726117).
Q96QP1	870	870	G -> S (in dbSNP:rs2074380).
Q96QP1	873	873	R -> I (in dbSNP:rs34946272).
Q96QP1	910	910	E -> D (in dbSNP:rs35308602).
Q96QP1	916	916	N -> D (in dbSNP:rs2074381).
Q96QP1	935	935	P -> L (in dbSNP:rs34780600).
Q96QP1	1008	1008	H -> P (in dbSNP:rs34079946).
Q96QP1	1084	1084	R -> Q (in dbSNP:rs34677416).
Q96QP1	1117	1117	L -> P (in dbSNP:rs35756863).
Q96QP1	1160	1160	A -> G (in dbSNP:rs55696324).
Q86TB3	2	2	K -> T (in dbSNP:rs6566987).
Q86TB3	136	136	R -> S (in dbSNP:rs9944810).
Q86TB3	719	719	H -> Q (in dbSNP:rs12103986).
Q86TB3	810	810	G -> S (in dbSNP:rs3809970).
Q86TB3	825	825	R -> T (in dbSNP:rs3809972).
Q86TB3	829	829	K -> N (in dbSNP:rs3809973).
Q86TB3	884	884	S -> L (in dbSNP:rs3809974).
Q86TB3	891	891	T -> I (in dbSNP:rs3826593).
Q86TB3	916	916	N -> K (in dbSNP:rs4940404).
Q86TB3	942	942	E -> K (in an ovarian undifferentiated carcinoma sample; somatic mutation).
Q86TB3	977	977	S -> T (in dbSNP:rs3809975).
Q86TB3	1057	1057	L -> V (in dbSNP:rs3809976).
Q86TB3	1063	1063	G -> V (in dbSNP:rs34347938).
Q86TB3	1133	1133	T -> I (in dbSNP:rs3826593).
Q86TB3	1134	1134	K -> N (in dbSNP:rs35791514).
Q86TB3	1174	1174	H -> P (in dbSNP:rs3809977).
Q86TB3	1296	1296	L -> V (in dbSNP:rs3809976).
Q86TB3	1449	1449	P -> S (in dbSNP:rs3809982).
Q86TB3	1476	1476	K -> T (in a melanoma metastatic sample; somatic mutation).
Q86TB3	1551	1551	A -> S (in dbSNP:rs3809983).
Q86TB3	1579	1579	Q -> R (in dbSNP:rs33910491).
Q86TB3	1729	1729	K -> E (in dbSNP:rs34409558).
Q86TB3	1730	1730	K -> E (in dbSNP:rs17065127).
Q86TB3	1767	1767	H -> Y (in dbSNP:rs7234999).
Q86TB3	1884	1884	R -> C (in dbSNP:rs33969768).
Q86TB3	1969	1969	E -> K (in dbSNP:rs17065127).
Q86TB3	2157	2157	I -> V (in dbSNP:rs7240666).
Q96L96	336	336	R -> H (in dbSNP:rs34407151).
Q96L96	338	338	T -> I.
Q96L96	414	414	T -> S (in dbSNP:rs3803403).
Q96L96	433	433	Q -> E (in a lung large cell carcinoma sample; somatic mutation).
Q96L96	579	579	G -> E (in dbSNP:rs3803405).
Q96L96	602	602	Q -> R.
Q96L96	663	663	G -> D.
Q96L96	761	761	T -> M (in dbSNP:rs16974569).
Q96L96	836	836	R -> L.
Q96L96	929	929	E -> D.
Q96L96	1013	1013	E -> K (in dbSNP:rs35633849).
Q96L96	1137	1137	A -> G (in dbSNP:rs34173528).
Q96L96	1299	1299	P -> L (in dbSNP:rs306197).
Q96L96	1364	1364	G -> E (in a metastatic melanoma sample; somatic mutation).
Q96L96	1412	1412	R -> W.
Q96L96	1557	1557	A -> D (in dbSNP:rs34775428).
Q96L96	1622	1622	L -> P (in dbSNP:rs187316).
Q96L96	1873	1873	A -> V (in dbSNP:rs36002219).
P07086	13	13	K -> N.
P07087	36	36	V -> I.
P07087	102	102	E -> Q.
P55789	166	166	F -> L (in dbSNP:rs36041021).
P55789	194	194	R -> H (in MPMCHD; less stable than the wild-type protein within the mitochondria).
Q96Q42	94	94	I -> V (in dbSNP:rs3219154).
Q96Q42	102	102	H -> R.
Q96Q42	159	159	E -> K (in dbSNP:rs3219155).
Q96Q42	368	368	V -> M (in dbSNP:rs3219156).
Q96Q42	1255	1255	S -> F (in dbSNP:rs10206276).
Q96Q42	1406	1406	R -> K.
P35858	97	97	L -> F (in dbSNP:rs35947557).
P35858	307	307	P -> L (in dbSNP:rs34297640).
P35858	498	498	P -> S (in dbSNP:rs9282730).
P35858	548	548	R -> W (in dbSNP:rs9282731).
O95076	168	168	L -> V (in FND).
O95076	183	183	R -> W (in FND).
O95076	196	196	R -> W (in FND).
O95076	203	203	N -> S (in FND).
O95076	234	234	P -> A (in dbSNP:rs12749726).
Q9H161	35	35	R -> T.
Q9H161	102	102	P -> S (in dbSNP:rs12421995).
Q9H161	218	218	R -> Q (in PFM2).
Q9H161	257	257	R -> T (in dbSNP:rs3824915).
Q9H161	272	272	R -> P (in PFM2).
O35137	206	206	R -> Q (in lst; abolishes DNA binding and transcriptional activation).
Q9UHK6	9	9	V -> M (in dbSNP:rs3195676).
Q9UHK6	52	52	S -> P (in AMACRD and CBAS4; inactive enzyme).
Q9UHK6	107	107	L -> P (in CBAS4; inactive enzyme).
Q9UHK6	118	118	R -> Q (in dbSNP:rs16892150).
Q9UHK6	175	175	G -> D (in dbSNP:rs10941112).
Q9UHK6	201	201	S -> L (in dbSNP:rs2287939).
Q9UHK6	238	238	P -> S (in dbSNP:rs9282594).
Q9UHK6	239	239	Q -> H (in dbSNP:rs34677).
Q9UHK6	261	261	M -> I (in dbSNP:rs9282593).
Q9UHK6	261	261	M -> T (in dbSNP:rs3195678).
Q9UHK6	277	277	K -> E (in dbSNP:rs2278008).
Q9NP70	11	11	M -> T (in ameloblastoma).
Q9NP70	255	255	A -> V (in dbSNP:rs7439186).
Q9NP70	354	354	L -> P.
Q9NP70	396	397	RT -> GA (in an ameloblastoma sample).
Q9NP70	439	439	H -> R (in an ameloblastoma sample).
P0C7Q5	104	104	T -> A (in dbSNP:rs8087447).
Q96KT7	46	46	G -> D (in dbSNP:rs6990563).
Q96KT7	307	307	L -> P (in dbSNP:rs12681991).
P0C7Q6	51	51	A -> T (in dbSNP:rs3760422).
P0C7Q6	251	251	P -> L (in dbSNP:rs4491591).
P0C7Q6	263	263	A -> T (in dbSNP:rs7209977).
P82535	1	7	Missing (in N-terminal processing variant).
P82535	1	6	Missing (in N-terminal processing variant).
P82535	1	5	Missing (in N-terminal processing variant).
P82535	1	4	Missing (in N-terminal processing variant).
Q8WVC7	49	49	V -> L (in dbSNP:rs2230458).
Q99217	4	4	W -> S (in AIH1).
Q99217	5	8	ILFA -> T (in AIH1).
Q99217	37	37	T -> I (in AIH1).
Q99217	56	56	P -> T (in AIH1).
P26442	181	181	I -> V (in dbSNP:rs4924).
Q9UKV5	605	605	D -> V (in a breast cancer sample; somatic mutation).
Q16671	54	54	R -> C (in PMDS2).
Q16671	142	142	G -> V (in PMDS2).
Q16671	282	282	H -> Q (in PMDS2).
Q16671	406	406	R -> Q (in PMDS2).
Q16671	426	426	D -> G (in PMDS2).
Q16671	444	452	Missing (in PMDS2).
Q16671	458	458	V -> A (in PMDS2).
Q16671	491	491	D -> H (in PMDS2).
Q16671	504	504	R -> C (in PMDS2).
P27017	106	106	T -> N (in strain: PAC181; butyramide inducible phenotype).
Q9BXJ7	41	41	T -> I (in MGA1; dbSNP:rs28939377).
Q8IY63	847	847	P -> L (in dbSNP:rs11020968).
Q9Y2J4	227	227	T -> I (in dbSNP:rs35377537).
Q9Y2J4	342	342	A -> P (in dbSNP:rs2303635).
Q9Y2J4	415	415	G -> S (in dbSNP:rs2241559).
Q9Y2J4	731	731	D -> E (in dbSNP:rs1353776).
P46883	42	42	K -> E (in strain: W).
P46883	59	59	L -> I (in strain: W).
Q6UB28	14	14	G -> V (in dbSNP:rs10497377).
Q9H4A4	579	579	V -> I (in dbSNP:rs3820439).
P05193	97	97	R -> A (in strain: GN346).
P05193	143	143	G -> D (in strain: GN346).
P05193	145	145	V -> I (in strain: GN346).
P05193	150	150	E -> A (in strain: GN346).
P05193	185	185	S -> P (in strain: GN346).
P05193	224	224	L -> R (in strain: GN346).
P05193	243	243	V -> L (in strain: GN346).
P05193	325	325	A -> V (in strain: GN346).
P05193	368	368	A -> V (in strain: GN346).
P05364	3	3	R -> I (in strain: MHN1).
P05364	14	14	I -> L (in strain: MHN1).
P05364	21	21	T -> A (in strain: MHN1).
P05364	36	36	I -> V (in strain: MHN1 and Q980R).
P05364	58	58	P -> S (in strain: MHN1).
P05364	108	108	A -> P (in strain: MHN1 and Q980R).
P05364	152	152	L -> V (in strain: Q980R).
P05364	262	262	N -> K (in strain: MHN1).
P05364	319	319	A -> V (in strain: Q980R).
P05364	362	362	T -> K (in strain: MHN1).
P23109	22	22	E -> K (in dbSNP:rs2273268).
P23109	48	48	P -> L (polymorphism; activity comparable to wild-type).
P23109	388	388	R -> W (in AMPDDM; loss of activity; dbSNP:rs35859650).
P23109	425	425	R -> H (in AMPDDM; loss of activity).
P23109	633	633	P -> H (in a colorectal cancer sample; somatic mutation).
Q01432	185	185	R -> W (in dbSNP:rs11042836).
Q01432	310	310	N -> K (in AMPDDE).
Q01432	311	311	V -> L (in AMPDDE).
Q01432	320	320	A -> V (in AMPDDE).
Q01432	324	324	M -> T (in AMPDDE).
Q01432	331	331	R -> C (in AMPDDE).
Q01432	402	402	R -> C (in AMPDDE).
Q01432	450	450	W -> R (in AMPDDE).
Q01432	455	455	Y -> H (in dbSNP:rs36003153).
Q01432	573	573	R -> C (in AMPDDE; enzyme inactive; dbSNP:rs3741040).
Q01432	585	585	P -> L (in AMPDDE).
Q01432	712	712	Q -> P (in AMPDDE).
Q07075	213	213	Q -> R (in dbSNP:rs10004516).
Q07075	218	218	V -> A (in dbSNP:rs1126483).
Q07075	437	437	R -> H (in dbSNP:rs34949711).
Q07075	861	861	S -> R (in dbSNP:rs35812243).
Q07075	887	887	R -> T (in a breast cancer sample; somatic mutation).
P0AE16	151	151	G -> D (in non-inducible mutant SN0301- 1).
P0AE16	268	268	G -> D (in non-inducible mutant SN0301- 3).
P0AE16	373	373	G -> D (in non-inducible mutant SN0301- 5).
P49418	218	218	K -> E (in dbSNP:rs35166354).
P49418	376	376	M -> I (in dbSNP:rs17171345).
P49418	496	496	K -> T (in dbSNP:rs35024632).
Q10712	358	358	R -> G.
Q8SR45	288	288	L -> F (in strain: Isolate 3).
P15144	20	20	V -> M (in dbSNP:rs10152474).
P15144	86	86	R -> Q (in dbSNP:rs25653).
P15144	242	242	D -> Y.
P15144	243	243	L -> P.
P15144	311	311	A -> V (in dbSNP:rs17240268).
P15144	321	321	T -> M (in dbSNP:rs8179199).
P15144	603	603	I -> K (in dbSNP:rs17240212).
P15144	603	603	I -> M (in dbSNP:rs8192297).
P15144	752	752	S -> N (in dbSNP:rs25651).
Q10730	39	39	F -> I (in strain: 53/7).
Q10730	44	44	L -> F (in strain: 53/7).
Q10730	342	342	S -> A (in strain: 53/7).
Q10730	455	455	K -> R (in strain: 53/7).
Q10730	496	496	S -> N (in strain: 53/7).
Q10730	527	527	H -> L (in strain: 53/7).
Q8N6M6	179	179	V -> A (in dbSNP:rs16911679).
Q8N6M6	179	179	V -> I (in dbSNP:rs16911679).
Q8N6M6	255	255	R -> Q (in dbSNP:rs16911681).
Q8N6M6	386	386	R -> C (in dbSNP:rs34557833).
Q6Q4G3	640	640	V -> F (in dbSNP:rs17138632).
Q6Q4G3	689	689	L -> F (in dbSNP:rs10078759).
Q6Q4G3	936	936	V -> I (in dbSNP:rs17138681).
P30533	114	114	N -> S (in dbSNP:rs2228158).
P30533	311	311	V -> M (in dbSNP:rs1800493).
Q9M6N7	95	95	D -> N (in strain: cv. C24).
Q6UX39	45	45	N -> S (in dbSNP:rs7660807).
Q6UX39	50	50	S -> P (in dbSNP:rs34803339).
Q6UX39	78	78	G -> S (in a colorectal cancer sample; somatic mutation).
P19269	32	32	M -> K (in strain: CCRC 21164 and ATCC 26077 / CBS 2863).
P19269	36	36	S -> G (in strain: CCRC 21164).
P19269	73	73	Y -> I (in strain: ATCC 26077 / CBS 2863).
P19269	280	280	N -> S (in strain: CCRC 21164).
P19269	350	350	D -> A (in strain: CCRC 21164 and ATCC 26077 / CBS 2863).
P19269	479	479	L -> S (in strain: CCRC 21164 and ATCC 26077 / CBS 2863).
P19269	483	483	S -> F (in strain: CCRC 21164).
Q23835	2	2	F -> L (in strain: Taka5).
P54215	7	7	L -> I (in Amy-P).
P54215	398	398	T -> A (in Amy-P).
Q9BPU1	11	11	A -> S (in strain: KN-28).
Q9BPU1	16	16	A -> V (in strain: KN-22 and KN-23).
Q9BPU1	71	71	S -> R (in strain: KN-3, KN-9, KN-10 and L16).
Q9BPU1	121	121	D -> G (in strain: TN256, 1420#1 and KO140).
Q9BPU1	121	121	D -> N (in strain: KN-3, KN-9, KN-10 and L16).
Q9BPU1	138	138	S -> T (in strain: JP-75, KN-7, KN-15, KN-17, KN-21 and KN-23).
Q9BPU1	144	144	Y -> H (in strain: Canton-S).
Q9BPU1	156	156	S -> R (in strain: 1420#1, KN-3, KN-9, KN-10, KO140, L16 and TN256).
Q9BPU1	181	181	Y -> N (in strain: Canton-S).
Q9BPU1	231	231	A -> S (in strain: JP-70, KN-17 and KN- 21).
Q9BPU1	278	278	D -> N (in strain: 1420#1, KO140, KN-3, KN-9, KN-10 and L16).
Q9BPU1	284	284	T -> I (in strain: KN-21).
Q9BPU1	398	398	T -> A (in strain: 1420#1, J87, JP-60, JP-70, JP-75, KO123, KO140, KN-9, KN-15, KN-21, L16 and TN256).
Q9BPU1	401	401	S -> L (in strain: Berkeley).
Q9BPU1	403	403	E -> A (in strain: J87, JP-60 and KO123).
Q9BPU1	465	465	V -> I (in strain: 1420#1).
Q9BPU1	474	474	S -> Y (in strain: KN-23).
Q9BPU1	476	476	N -> Y (in strain: Berkeley, JP-1, JP-5, JP-15, JP-35, JP-55, JP-65, JP-84, KN-12, KN-22 and KN-27).
Q9BPT0	6	6	Missing (in strain: KN-22).
Q9BPT0	11	11	A -> S (in strain: Berkeley, JP-5, JP-35, JP-55, JP-75, KN-12 and Oregon-R).
Q9BPT0	71	71	S -> R (in strain: 1420#1, JP-169, JP- 186, JP-190, KO123, KN-3, KN-9, KN-10, TN22 and TN256).
Q9BPT0	121	121	D -> E (in strain: JP-55).
Q9BPT0	121	121	D -> G (in strain: 1420#1, JP-190, JP- 169, JP-186, KO123, TN22 and TN256).
Q9BPT0	121	121	D -> N (in strain: KN-10, KN-3 and KN-9).
Q9BPT0	138	138	S -> T (in strain: JP-75, KN-17, KN-21, KN-22 and L16).
Q9BPT0	156	156	S -> R (in strain: 1420#1, JP-169, JP- 186, JP-190, KO123, KN-3, KN-9, KN-10, TN22 and TN256).
Q9BPT0	278	278	D -> N (in strain: 1420#1, AO168, J87, JP-60, JP-169, JP-186, JP-190, KO123, KN- 3, KN-9, KN-10, TN22 and TN256).
Q9BPT0	288	288	T -> I (in strain: KN-15).
Q9BPT0	398	398	T -> A (in strain: Berkeley, JP-5, JP-35, JP-55, JP-60, JP-65, JP-70, JP-75, JP- 169, JP-186, JP-190, KN-3, KN-9, KN-10, KN-12, KN-17, KN-21 and KN-23).
Q9BPT0	401	401	S -> L (in strain: Berkeley, JP-5, JP-35, JP-55, JP-65, JP-70, KN-12 and KN-21).
Q9BPT0	403	403	E -> A (in strain: 1420#1, AO168, J87, JP-60, JP-169, JP-186, JP-190, KO123, KN- 3, KN-9, KN-10, TN22 and TN256).
Q9BPT0	410	410	N -> S (in strain: Berkeley, JP-5, JP-35, JP-55, JP-65 and KN-12).
Q9BPT0	465	465	V -> I (in strain: JP-1, JP-15, JP-84, KO140 and KN-27).
Q9BPT0	476	476	Y -> N (in strain: 1420#1, AO168, J87, JP-1, JP-15, JP-55, JP-60, JP-75, JP-84, JP-169, JP-186, JP-190, KO123, KO140, KN- 3, KN-9, KN-10, KN-15, KN-17, KN-21, KN- 22, KN-23, KN-27, L16, TN22 and TN256).
Q9BPT0	478	478	G -> A (in strain: KN-21).
Q9BN01	179	180	NS -> DP (in strain: LO4).
Q9BN01	195	195	D -> N (in strain: LO4).
Q9BN01	330	330	A -> V (in strain: LO4).
Q9BN01	381	381	V -> A (in strain: LO4).
Q9BN01	405	405	Q -> P (in strain: LO4).
Q9BN01	427	427	F -> Y (in strain: LO4).
P82993	165	165	E -> D.
P82993	254	254	T -> S.
P82993	472	472	K -> Q.
P00688	64	64	V -> I (in A1, B(C) and AMY-2.2Y).
P00688	66	66	V -> I (in AMY-2.2Y).
P00688	120	120	A -> S (in A1, B(A) and B(C)).
P00688	161	161	D -> S (in A1, B(A) and B(C); requires 2 nucleotide substitutions).
P00688	174	174	L -> V (in A1 and B(C)).
P00688	175	175	T -> S (in B(A)).
P00688	254	254	I -> V (in A1 and B(C)).
P00688	270	272	YGA -> FGV (in A1 and B(C)).
P00688	298	298	L -> M (in A1, B(A) and B(C)).
P00688	322	322	S -> A (in B(A)).
P00688	419	419	S -> A (in B1).
P00688	450	450	A -> E (in B(C)).
O76261	143	143	P -> T (in strain: Seychelles-1 and Seychelles-15).
O76261	152	152	F -> S (in strain: Seychelles-12).
O76261	293	293	W -> L (in strain: Seychelles-7 and Seychelles-8).
O76261	423	423	F -> S (in strain: Seychelles-8 and Seychelles-10).
O77016	50	50	F -> L (in strain: Isolate SIM2).
O77016	324	324	K -> R (in strain: Isolate SIM2).
O76264	57	57	A -> G (in strain: LBV2).
O76264	70	70	S -> A (in strain: LBV2, SA3 and SA4).
O76264	148	148	S -> T (in strain: LO4, LBV2, SA3 and SA4).
O76264	189	189	P -> L (in strain: LO4, LBV2, SA3 and SA4).
O76264	198	198	E -> D (in strain: LBV2, SA3 and SA4).
O76264	360	360	A -> E (in strain: LO4, LBV2, SA3 and SA4).
O76264	365	365	I -> V (in strain: LBV2, SA3 and SA4).
O76264	401	401	T -> A (in strain: SA3).
O76264	401	401	T -> M (in strain: LO4).
P00691	469	477	AKAPHVFLE -> EMRCNTFFQ (in strain: N7 AMYEN+).
P00691	478	659	Missing (in strain: N7 AMYEN+).
Q400G9	491	491	R -> H (in dbSNP:rs7776970).
Q86W34	30	30	D -> N (in dbSNP:rs3213690).
Q86W34	146	146	H -> Q (in dbSNP:rs3207194).
Q8IZ07	505	505	L -> P (in dbSNP:rs2287174).
Q8N6S4	413	413	T -> S (in dbSNP:rs17852616).
Q8IVF6	130	130	E -> K (in dbSNP:rs1832313).
Q8IVF6	277	277	A -> E (in dbSNP:rs632200).
Q8IVF6	484	484	N -> S (in dbSNP:rs2996347).
Q8IVF6	688	688	Y -> C (in dbSNP:rs2799163).
Q8IVF6	838	838	E -> D (in dbSNP:rs12341435).
Q8IVF6	942	942	T -> I (in dbSNP:rs11999308).
Q8IVF6	945	945	E -> D (in dbSNP:rs12341435).
Q9BXX3	227	227	Q -> E (in a breast cancer sample; somatic mutation).
Q9BXX3	611	611	T -> A (in dbSNP:rs16937417).
Q9BXX3	917	917	K -> N (in dbSNP:rs1209750).
Q9BXX3	985	985	R -> C (in dbSNP:rs1200875).
Q9BXX2	375	375	V -> M (in dbSNP:rs9748611).
Q9BXX2	477	477	F -> L (in dbSNP:rs9675365).
O43423	23	23	A -> V (in dbSNP:rs2288674).
O43423	71	71	R -> K (in dbSNP:rs2288675).
O43423	105	105	L -> P (in dbSNP:rs17008716).
O43423	140	140	Y -> H.
O43423	204	204	E -> G (in dbSNP:rs2288676).
O95626	46	46	L -> F (in dbSNP:rs7956679).
A5PLL1	156	156	S -> L (in dbSNP:rs32857).
P0C6C1	369	369	P -> R (in dbSNP:rs410400).
P0C6C1	427	427	P -> H (in dbSNP:rs449340).
P0C6C1	442	442	L -> I (in dbSNP:rs422777).
Q8N2N9	483	483	E -> G (in dbSNP:rs1839230).
Q8N2N9	496	496	E -> D (in dbSNP:rs13001728).
Q8N2N9	534	534	S -> A (in dbSNP:rs6761299).
P94851	67	67	H -> R (in strain: Hp921023).
P94851	256	256	E -> D (in strain: Hp921023).
P94851	272	272	K -> R (in strain: Hp921023).
P94851	274	274	T -> A (in strain: Hp921023).
P54802	35	35	L -> F (in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type).
P54802	38	38	R -> W (in MPS3B; decreases the enzyme activity markedly).
P54802	48	48	F -> C (in MPS3B).
P54802	48	48	F -> L (in MPS3B; associated with a partially degraded polypeptide in a 16- hour chase experiment suggesting that L- 48 NAGLU affects the processing and stability of the gene; some L-48 NAGLU is being correctly sorted to the lysosomal compartment).
P54802	69	69	G -> S (in MPS3B).
P54802	77	77	V -> G (in MPS3B; decreases the enzyme activity markedly).
P54802	79	79	G -> C (in MPS3B).
P54802	79	79	G -> S (in MPS3B).
P54802	82	82	G -> D (in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type).
P54802	92	92	Y -> H (in MPS3B).
P54802	100	100	H -> R (in MPS3B).
P54802	115	115	P -> S (in MPS3B).
P54802	130	130	R -> C (in MPS3B; does not yield active enzyme).
P54802	140	140	Y -> C (in MPS3B).
P54802	142	142	Missing (in MPS3B).
P54802	153	153	E -> K (in MPS3B).
P54802	154	154	I -> R (in MPS3B; does not yield active enzyme).
P54802	156	156	W -> C (in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type).
P54802	227	227	H -> P (in MPS3B).
P54802	234	234	R -> C (in MPS3B).
P54802	241	241	V -> M (in MPS3B).
P54802	242	242	L -> P (in MPS3B; no enzyme activity).
P54802	243	243	P -> L (in MPS3B).
P54802	246	246	A -> P (in MPS3B; produces 12.7% residual enzyme activity).
P54802	248	248	H -> R (in MPS3B).
P54802	268	268	W -> R (in MPS3B).
P54802	277	277	C -> F (in MPS3B).
P54802	280	280	L -> P (in MPS3B).
P54802	292	292	G -> R (in MPS3B).
P54802	309	309	Y -> C (in MPS3B; does not yield active enzyme).
P54802	314	314	F -> L (in MPS3B).
P54802	334	334	V -> F (in MPS3B).
P54802	335	335	Y -> C (in MPS3B; decreases the enzyme activity markedly).
P54802	358	358	P -> L (in MPS3B).
P54802	410	410	F -> S (in MPS3B).
P54802	412	412	G -> E (in MPS3B; does not yield active enzyme).
P54802	414	414	H -> R (in MPS3B; no enzyme activity).
P54802	437	437	T -> I (in MPS3B).
P54802	446	446	E -> K (in MPS3B; no enzyme activity).
P54802	452	452	E -> K (in MPS3B).
P54802	455	455	Y -> C (in MPS3B).
P54802	474	474	W -> G (in MPS3B).
P54802	482	482	R -> Q (in MPS3B; no enzyme activity).
P54802	482	482	R -> W (in MPS3B).
P54802	501	501	V -> G (in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type).
P54802	516	516	P -> L (in MPS3B; no enzyme activity).
P54802	520	520	R -> W (in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type).
P54802	521	521	P -> L (in MPS3B; accounts for approximately 6% of mutations in Australasian patients with MPS3B).
P54802	534	534	S -> Y (in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type).
P54802	560	560	L -> P (in MPS3B).
P54802	561	561	L -> R (in MPS3B).
P54802	565	565	R -> P (in MPS3B; does not yield active enzyme).
P54802	565	565	R -> Q (in MPS3B).
P54802	565	565	R -> W (in MPS3B; accounts for approximately 6% of the mutant alleles in Australasian patients with MPS3B).
P54802	591	591	L -> P (in MPS3B).
P54802	612	612	S -> G (in MPS3B).
P54802	617	617	L -> F (in MPS3B).
P54802	643	643	R -> C (in MPS3B; accounts for approximately 20% of MPS3B alleles in a Dutch patient group).
P54802	643	643	R -> H (in MPS3B).
P54802	649	649	W -> C (in MPS3B; no enzyme activity; synthesizes a polypeptide with a molecular size similar to that of the wild-type).
P54802	650	650	G -> E (in MPS3B).
P54802	658	658	Y -> F (in MPS3B).
P54802	664	664	A -> V (in MPS3B).
P54802	674	674	R -> C (in MPS3B).
P54802	674	674	R -> H (in MPS3B).
P54802	676	676	R -> P (in MPS3B).
P54802	682	682	L -> R (in MPS3B).
P54802	705	705	E -> K (in MPS3B).
P54802	737	737	G -> R (in dbSNP:rs86312).
P21663	9	9	V -> F (in strain: B316).
P21663	34	34	N -> S (in strain: B205).
P21663	44	44	I -> V (in strain: B316).
P21663	48	48	K -> N (in strain: Z22).
Q8WSV4	45	45	G -> N (in strain: New Caledonia).
Q8WSV4	58	58	L -> S (in strain: New Caledonia).
Q8WPA1	22	22	N -> D (in strain: Y-2).
Q8WPA1	53	53	L -> M (in strain: Y-0 and Y-1).
Q8WPA1	56	56	P -> PSKE (in strain: Y-0 and Y-1).
P10275	2	2	E -> K (in PAIS).
P10275	54	54	L -> S (in prostate cancer).
P10275	57	57	L -> Q (in prostate cancer).
P10275	64	64	Q -> R (in prostate cancer).
P10275	74	78	Missing.
P10275	112	112	Q -> H (in prostate cancer).
P10275	180	180	K -> R (in prostate cancer).
P10275	194	194	Q -> R (in AIS).
P10275	205	205	S -> R.
P10275	214	214	G -> R (in AIS; 20% lower transactivation capacity).
P10275	255	255	L -> P (in AIS).
P10275	266	266	M -> T (in prostate cancer).
P10275	269	269	P -> S (in prostate cancer).
P10275	340	340	P -> L (in prostate cancer).
P10275	390	390	P -> R (in AIS).
P10275	390	390	P -> S (in AIS).
P10275	443	443	Q -> R (in AIS; might be a polymorphism).
P10275	465	472	Missing.
P10275	491	491	G -> S (in AIS).
P10275	528	528	D -> G (in prostate cancer).
P10275	547	547	L -> F (in PAIS).
P10275	548	548	P -> S (in AIS).
P10275	559	559	C -> Y (in AIS).
P10275	568	568	G -> V (in a patient with isolated hypospadias).
P10275	568	568	G -> W (in PAIS).
P10275	571	571	Y -> C (in AIS).
P10275	573	573	A -> D (in AIS; defective DNA binding and transactivation).
P10275	574	574	L -> P (in prostate cancer).
P10275	575	575	T -> A (in prostate cancer).
P10275	576	576	C -> F (in AIS; lack of DNA binding).
P10275	576	576	C -> R (in AIS).
P10275	579	579	C -> F (in AIS; reduced transcription and DNA binding).
P10275	579	579	C -> Y (in AIS).
P10275	580	580	K -> R (in prostate cancer).
P10275	581	581	V -> F (in AIS).
P10275	582	582	F -> S (in PAIS).
P10275	582	582	F -> Y (in PAIS).
P10275	582	582	Missing (in AIS).
P10275	585	585	R -> K (in AIS).
P10275	586	586	A -> V (in prostate cancer; somatic mutation).
P10275	587	587	A -> S (in prostate cancer; somatic mutation).
P10275	596	596	A -> T (in AIS; abolishes dimerization).
P10275	597	597	S -> G (in PAIS; high dissociation rate; associated with P-617 in a PAIS patient; partially restores DNA-binding activity of P-617 mutant receptors).
P10275	597	597	S -> T (in a patient with severe hypospadias).
P10275	601	601	C -> F (in AIS).
P10275	604	604	D -> Y (in PAIS).
P10275	607	607	R -> Q (in PAIS and breast cancer).
P10275	608	608	R -> K (in PAIS and breast cancer; defective nuclear localization).
P10275	610	610	N -> T (in PAIS).
P10275	611	611	C -> Y (in AIS).
P10275	615	615	R -> H (in AIS and PAIS).
P10275	615	615	R -> P (in AIS).
P10275	615	615	Missing (in AIS).
P10275	616	616	L -> P (in AIS).
P10275	616	616	L -> R (in PAIS).
P10275	617	617	R -> P (in AIS and PAIS; loss of DNA- binding activity; associated with G-597 in a PAIS patient).
P10275	619	619	C -> Y (in prostate cancer; loss of DNA binding; somatic mutation).
P10275	629	629	R -> Q (in prostate cancer).
P10275	630	630	K -> T (in prostate cancer).
P10275	645	645	A -> D (in dbSNP:rs1800053).
P10275	647	647	S -> N (in prostate cancer).
P10275	664	664	I -> N (in AIS and PAIS).
P10275	670	670	Q -> R (in prostate cancer).
P10275	671	671	P -> H (in PAIS).
P10275	672	672	I -> T (in prostate cancer).
P10275	677	677	L -> P (in AIS).
P10275	681	681	E -> K (in AIS).
P10275	682	682	P -> T (in PAIS).
P10275	683	683	G -> A (in prostate cancer).
P10275	684	684	V -> I (in AIS).
P10275	686	686	C -> R (in PAIS).
P10275	687	687	A -> V (in PAIS).
P10275	688	688	G -> E (in AIS).
P10275	690	690	Missing (in PAIS).
P10275	692	692	Missing (in AIS).
P10275	695	695	D -> H (in AIS).
P10275	695	695	D -> N (in AIS; almost complete loss of androgen binding and transcription activation).
P10275	695	695	D -> V (in AIS).
P10275	700	700	L -> M (in AIS).
P10275	701	701	L -> F (in AIS).
P10275	701	701	L -> H (in AIS and prostate cancer).
P10275	702	702	S -> A (in AIS).
P10275	703	703	S -> C (in AIS).
P10275	703	703	S -> G (in PAIS and AIS).
P10275	705	705	N -> S (in AIS).
P10275	705	705	N -> Y (in AIS).
P10275	707	707	L -> R (in AIS).
P10275	708	708	G -> A (in PAIS).
P10275	708	708	G -> V (in AIS).
P10275	710	710	R -> T (in AIS).
P10275	711	711	Q -> E (in PAIS).
P10275	712	712	L -> F (in PAIS).
P10275	715	715	V -> M (in prostate cancer; gain in function).
P10275	717	717	K -> E (in prostate cancer).
P10275	720	720	K -> E (in prostate cancer; found in bone metastases).
P10275	721	721	A -> T (in prostate cancer; somatic mutation).
P10275	722	722	L -> F (in AIS).
P10275	723	723	P -> S (in AIS).
P10275	724	724	G -> D (in AIS and prostate cancer).
P10275	725	725	F -> L (in a patient with severe hypospadias).
P10275	726	726	R -> L (in prostate cancer).
P10275	727	727	N -> K (in AIS).
P10275	728	728	L -> S (in PAIS).
P10275	730	730	V -> M (in prostate cancer; increases transcription activation).
P10275	732	732	D -> N (in AIS).
P10275	732	732	D -> Y (in AIS).
P10275	733	733	Q -> H (in PAIS).
P10275	737	737	I -> T (in PAIS).
P10275	741	741	W -> R (in AIS).
P10275	742	742	M -> I (in PAIS).
P10275	742	742	M -> V (in PAIS).
P10275	743	743	G -> E (in AIS).
P10275	743	743	G -> V (in PAIS and AIS).
P10275	744	744	L -> F (in AIS and prostate cancer).
P10275	745	745	M -> T (in PAIS).
P10275	746	746	V -> M (in PAIS).
P10275	748	748	A -> D (in PAIS).
P10275	748	748	A -> T (in prostate cancer).
P10275	748	748	A -> V (in prostate cancer).
P10275	749	749	M -> I (in prostate cancer).
P10275	749	749	M -> V (in PAIS and AIS).
P10275	750	750	G -> D (in AIS; loss of androgen binding).
P10275	750	750	G -> S (in prostate cancer).
P10275	751	751	W -> R (in AIS).
P10275	752	752	R -> Q (in AIS).
P10275	754	754	F -> L (in PAIS and prostate cancer).
P10275	754	754	F -> V (in AIS).
P10275	755	755	T -> A (in prostate cancer).
P10275	756	756	N -> S (in PAIS).
P10275	757	757	V -> A (in prostate cancer).
P10275	758	758	N -> T (in PAIS; 50% reduction in transactivation).
P10275	759	759	S -> F (in AIS).
P10275	759	759	S -> P (in prostate cancer).
P10275	762	762	L -> F (in AIS; loss of androgen binding).
P10275	763	763	Y -> C (in PAIS and prostate cancer; partial loss of androgen binding).
P10275	763	763	Y -> H (in AIS).
P10275	764	764	F -> L (in AIS).
P10275	765	765	A -> T (in AIS; loss of androgen binding).
P10275	765	765	A -> V (in AIS).
P10275	766	766	P -> S (in AIS).
P10275	767	767	D -> E (in AIS).
P10275	768	768	L -> P (in AIS).
P10275	771	771	N -> H (in PAIS).
P10275	772	772	E -> A (in PAIS).
P10275	772	772	E -> G (in PAIS).
P10275	774	774	R -> C (in AIS; loss of androgen binding; frequent mutation).
P10275	774	774	R -> H (in AIS and PAIS; almost complete loss of androgen binding).
P10275	779	779	R -> W (in AIS).
P10275	780	780	M -> I (in PAIS and AIS).
P10275	782	782	S -> N (in prostate cancer; somatic mutation).
P10275	784	784	C -> Y (in AIS; loss of androgen binding and of transactivation).
P10275	787	787	M -> V (in AIS).
P10275	788	788	R -> S (in AIS).
P10275	790	790	L -> F (in AIS).
P10275	791	791	S -> P (in prostate cancer).
P10275	793	793	E -> D.
P10275	794	794	F -> S (in AIS).
P10275	798	798	Q -> E (in PAIS, AIS and prostate cancer; reduced transcription activation).
P10275	806	806	C -> Y (in PAIS).
P10275	807	807	M -> R (in AIS; loss of transactivation).
P10275	807	807	M -> T (in PAIS).
P10275	807	807	M -> V (in AIS; 25% androgen binding).
P10275	812	812	L -> F (in AIS).
P10275	814	814	S -> N (in AIS and PAIS).
P10275	820	820	G -> A (in AIS).
P10275	821	821	L -> V (in PAIS).
P10275	827	827	F -> V (in PAIS).
P10275	830	830	L -> P (in prostate cancer).
P10275	831	831	R -> L (in AIS).
P10275	831	831	R -> Q (in AIS; loss of androgen binding).
P10275	834	834	Y -> C (in AIS; loss of androgen binding).
P10275	840	840	R -> C (in AIS).
P10275	840	840	R -> G (in PAIS).
P10275	840	840	R -> H (in AIS).
P10275	840	840	R -> S (in PAIS).
P10275	841	841	I -> S (in PAIS).
P10275	842	842	I -> T (in AIS).
P10275	846	846	R -> G (in prostate cancer).
P10275	854	854	R -> K (in PAIS).
P10275	855	855	R -> C (in AIS).
P10275	855	855	R -> H (in AIS; strongly reduced transcription activation).
P10275	856	856	F -> L (in AIS).
P10275	863	863	L -> R (in AIS).
P10275	864	864	D -> G (in AIS).
P10275	864	864	D -> N (in AIS; loss of androgen binding).
P10275	865	865	S -> P (in AIS).
P10275	866	866	V -> E (in AIS).
P10275	866	866	V -> L (in PAIS).
P10275	866	866	V -> M (in AIS and prostate cancer).
P10275	869	869	I -> M (in PAIS).
P10275	870	870	A -> G (in PAIS).
P10275	870	870	A -> V (in PAIS).
P10275	871	871	R -> G (in AIS).
P10275	874	874	H -> R (in AIS).
P10275	874	874	H -> Y (in prostate cancer; increases affinity for testosterone, androgen sensitivity and transcription activation).
P10275	877	877	T -> A (in prostate cancer; alters receptor specificity so that transcription is activated by antiandrogens, such as cyproterone acetate; found in bone metastases).
P10275	877	877	T -> S (in prostate cancer).
P10275	879	879	D -> Y (in AIS).
P10275	880	880	L -> Q (in prostate cancer).
P10275	881	881	L -> V (in AIS).
P10275	886	886	M -> V (in AIS).
P10275	889	889	V -> M (in AIS and PAIS).
P10275	890	890	D -> N (in prostate cancer).
P10275	891	891	F -> L (in prostate cancer).
P10275	892	892	P -> L (in AIS).
P10275	895	895	M -> T (in AIS; low androgen binding and transactivation).
P10275	896	896	A -> T (in prostate cancer).
P10275	898	898	I -> T (in AIS).
P10275	902	902	Q -> R (in prostate cancer).
P10275	903	903	V -> M (in PAIS).
P10275	904	904	P -> H (in AIS).
P10275	904	904	P -> S (in AIS).
P10275	907	907	L -> F (in AIS; almost complete loss of transcription activation).
P10275	909	909	G -> E (in prostate cancer).
P10275	909	909	G -> R (in PAIS).
P10275	910	910	K -> R (in prostate cancer).
P10275	911	911	V -> L (in PAIS).
P10275	913	913	P -> S (in PAIS).
P10275	916	916	F -> L (in AIS).
P10275	917	917	H -> R (in AIS).
P10275	919	919	Q -> R (in prostate cancer).
P15207	735	735	R -> Q (in TFM; has only 10-15% of the androgen-binding capacity of wild-type AR).
P16860	25	25	R -> L (in dbSNP:rs5227).
P16860	47	47	R -> H (in dbSNP:rs5229).
P16860	93	93	M -> L (in dbSNP:rs5230).
P07634	26	26	H -> Y (in a clone).
P23582	82	82	R -> Q (in dbSNP:rs5267).
P01160	32	32	V -> M (in dbSNP:rs5063).
P01160	152	153	Missing (in allele 2).
Q9UNK9	141	141	G -> W (in dbSNP:rs34270005).
Q9UNK9	383	383	V -> L (in dbSNP:rs45499197).
Q9UNK9	515	515	F -> C (in dbSNP:rs2075773).
Q5VTE6	97	97	P -> S (in dbSNP:rs11542154).
P03950	12	12	F -> S (in ALS9).
P03950	20	20	P -> S (in ALS9).
P03950	36	36	Q -> L (in ALS9; reduced ribonucleolytic activity; low angiogenic activity; reduced mitogenic activity; wild type far-UV CD spectra).
P03950	41	41	K -> E (in ALS9; reduced ribonucleolytic activity).
P03950	41	41	K -> I (in ALS9; loss of angiogenic activity; reduced ribonucleolytic activity; retains nuclear translocation).
P03950	52	52	S -> N (in ALS9; loss of angiogenic activity; reduced ribonucleolytic activity; unable to translocate to the nucleus).
P03950	55	55	R -> K (in ALS9; marginally reduced ribonucleolytic activity; wild type far- UV CD spectra).
P03950	63	63	C -> W (in ALS9; reduced ribonucleolytic activity; low angiogenic activity; reduced mitogenic activity; reduced thermal stability).
P03950	64	64	K -> I (in ALS9; reduced ribonucleolytic activity; low angiogenic activity; reduced mitogenic activity; moderate reduction of thermal stability).
P03950	70	70	I -> V (in some ALS9 patients; pathogenicity uncertain; reduced ribonucleolytic activity; moderate reduction of thermal stability).
P03950	84	84	K -> E (in dbSNP:rs17560).
P03950	136	136	P -> L (in ALS9; loss of angiogenic activity; reduced ribonucleolytic activity; unable to translocate to the nucleus).
P03950	137	137	V -> I (in ALS9).
P03950	138	138	H -> R (in ALS9).
Q9Y5C1	418	418	N -> Y (in dbSNP:rs4145257).
Q9BY76	5	5	P -> L.
Q9BY76	40	40	E -> K (associated with lower plasma levels of triglyceride and higher levels of HDL cholesterol).
Q9BY76	41	41	M -> I.
Q9BY76	67	67	S -> R.
Q9BY76	72	72	R -> L.
Q9BY76	77	77	G -> R.
Q9BY76	167	167	E -> K.
Q9BY76	174	174	P -> S.
Q9BY76	190	190	E -> Q.
Q9BY76	196	196	E -> K.
Q9BY76	230	230	R -> C.
Q9BY76	233	233	G -> R.
Q9BY76	237	237	F -> V.
Q9BY76	251	251	P -> T.
Q9BY76	266	266	T -> M (in dbSNP:rs1044250).
Q9BY76	278	278	R -> Q (in dbSNP:rs35061979).
Q9BY76	291	291	V -> M.
Q9BY76	293	293	L -> M.
Q9BY76	296	296	E -> V.
Q9BY76	307	307	P -> S.
Q9BY76	308	308	V -> M.
Q9BY76	336	336	R -> C.
Q9BY76	338	338	D -> E.
Q9BY76	349	349	W -> C.
Q9BY76	361	361	G -> R.
Q9BY76	361	361	G -> S.
Q9BY76	371	371	R -> Q.
Q9BY76	384	384	R -> W.
Q86XS5	175	175	S -> P (in dbSNP:rs7946238).
O43827	51	51	E -> D (in dbSNP:rs28990992).
O43827	140	140	R -> H (in dbSNP:rs28991002).
O43827	175	175	Q -> H (in dbSNP:rs28991009).
Q15389	269	269	Missing (in cell line T98G; may be due to exon slippage).
O15123	333	333	V -> I (in dbSNP:rs7813215).
Q9Y264	395	395	E -> K (in dbSNP:rs869171).
P19828	267	267	H -> N (in strain: 531A).
P01019	43	43	L -> F (associated with susceptibility to pre-eclampsia; alters the reactions with renin and angiotensin-converting enzyme; dbSNP:rs41271499).
P01019	98	98	E -> K (in dbSNP:rs11568032).
P01019	114	114	G -> C (in dbSNP:rs2229389).
P01019	137	137	T -> M (in dbSNP:rs34829218).
P01019	207	207	T -> M (associated with hypertension; dbSNP:rs4762).
P01019	242	242	T -> I (associated with susceptibility to hypertension).
P01019	244	244	L -> R (associated with susceptibility to hypertension; dbSNP:rs5041).
P01019	268	268	M -> I (in dbSNP:rs11568053).
P01019	268	268	M -> T (associated with essential hypertension and pre-eclampsia; dbSNP:rs699).
P01019	281	281	Y -> C (associated with susceptibility to hypertension; alters the structure, glycosylation and secretion of angiotensinogen; dbSNP:rs56073403).
P01019	335	335	P -> S (in dbSNP:rs17856352).
P01019	375	375	R -> Q (in RTD).
P01019	392	392	L -> M (in dbSNP:rs1805090).
P16157	21	21	R -> T.
P16157	276	276	L -> R (in SPH1).
P16157	332	332	D -> H (in a breast cancer sample; somatic mutation).
P16157	463	463	V -> I (in SPH1).
P16157	619	619	R -> H (in Brueggen; dbSNP:rs2304877).
P16157	733	733	L -> I (in dbSNP:rs11778936).
P16157	750	750	V -> A.
P16157	832	832	R -> Q (in dbSNP:rs34523608).
P16157	845	845	D -> E.
P16157	991	991	V -> L.
P16157	1054	1054	I -> T (in SPH1).
P16157	1075	1075	T -> I (in dbSNP:rs35213384).
P16157	1126	1126	A -> P (in dbSNP:rs504465).
P16157	1192	1192	T -> P (in dbSNP:rs486770).
P16157	1286	1286	E -> D.
P16157	1325	1325	M -> V (in dbSNP:rs10093583).
P16157	1392	1392	S -> T.
P16157	1546	1546	V -> I (in dbSNP:rs1060130).
P16157	1592	1592	D -> N (in Duesseldorf).
Q01484	685	685	G -> E (in a breast cancer sample; somatic mutation).
Q01484	687	687	N -> S (in dbSNP:rs29372).
Q01484	1234	1234	G -> R (in a colorectal cancer sample; somatic mutation).
Q01484	1425	1425	E -> G (in LQT4; loss of function).
Q01484	2336	2336	V -> A (in dbSNP:rs28377576).
Q01484	3620	3620	T -> K (in a colorectal cancer sample; somatic mutation).
Q01484	3707	3707	L -> I (in LQT4; loss of function).
Q01484	3711	3711	T -> N (in LQT4; loss of function).
Q01484	3873	3873	R -> W (in LQT4; loss of function).
Q01484	3898	3898	E -> K (in LQT4; loss of function).
Q12955	2318	2318	K -> R (in dbSNP:rs59021407).
Q12955	2885	2885	H -> Q (in dbSNP:rs11599164).
Q12955	2996	2996	Q -> H (in dbSNP:rs41274672).
Q12955	3117	3117	I -> V (in dbSNP:rs28932171).
Q12955	3123	3123	K -> R (in dbSNP:rs10821668).
Q12955	4257	4257	I -> V (in dbSNP:rs12261793).
Q7Z5J8	675	675	I -> V (in dbSNP:rs16831887).
Q7Z5J8	1077	1077	F -> L (in dbSNP:rs1225090).
Q8N957	445	445	V -> I (in dbSNP:rs10852985).
Q9NWG4	175	175	L -> M (in dbSNP:rs17850570).
Q9NWG4	228	228	G -> C (in dbSNP:rs17850572).
Q9NWG4	1586	1586	G -> S (in dbSNP:rs1051309).
Q9NWG4	1760	1760	N -> S (in dbSNP:rs3752704).
Q9HCJ1	5	5	P -> L (in CCAL2).
Q9HCJ1	5	5	P -> T (in CCAL2).
Q9HCJ1	48	48	M -> T (in CCAL2).
Q9HCJ1	292	292	W -> R (in CMDJ).
Q9HCJ1	331	331	C -> R (in CMDJ).
Q9HCJ1	375	375	Missing (in CMDJ).
Q9HCJ1	376	376	Missing (in CMDJ).
Q9HCJ1	377	377	Missing (in CMDJ).
Q9HCJ1	380	380	P -> PA (in CMDJ).
Q9HCJ1	389	389	G -> R (in CMDJ; dbSNP:rs28939080).
Q9HCJ1	490	490	Missing (in CCAL2; sporadic).
Q9JHZ2	201	201	A -> V (in strain: C3H).
Q8NFD2	4	4	D -> Y (in dbSNP:rs35657708).
Q8NFD2	122	122	R -> H (in dbSNP:rs35877321).
Q8NFD2	239	239	A -> T (in dbSNP:rs7118900).
Q8NFD2	276	276	P -> L (in dbSNP:rs35488601).
Q8NFD2	318	318	G -> R (in dbSNP:rs11604671).
Q8NFD2	347	347	K -> T (in a breast infiltrating ductal carcinoma sample; somatic mutation).
Q8NFD2	366	366	L -> F (in dbSNP:rs56339158).
Q8NFD2	367	367	H -> Q (in dbSNP:rs34298987).
Q8NFD2	376	376	E -> K (in dbSNP:rs56299709).
Q8NFD2	426	426	E -> K (in dbSNP:rs55699907).
Q8NFD2	442	442	G -> R (in dbSNP:rs4938016).
Q8NFD2	451	451	G -> R (in dbSNP:rs34983219).
Q8NFD2	490	490	H -> R (in dbSNP:rs2734849).
Q8NFD2	595	595	T -> I (in dbSNP:rs55787008).
Q8NFD2	596	596	P -> L (in dbSNP:rs7104979).
Q8NFD2	653	653	N -> S (in dbSNP:rs55849504).
Q8NFD2	670	670	S -> G (in dbSNP:rs56006094).
Q8NFD2	713	713	E -> K (in dbSNP:rs1800497).
Q8NFD2	717	717	Q -> L (in a lung large cell carcinoma sample; somatic mutation).
Q8NFD2	736	736	R -> L (in a lung squamous cell carcinoma sample; somatic mutation).
Q8NFD2	764	764	E -> K (in a lung neuroendocrine carcinoma sample; somatic mutation).
Q8NAG6	80	80	L -> Q (in dbSNP:rs8108174).
Q8NAG6	146	146	P -> S (in dbSNP:rs59119993).
Q8NAG6	170	170	L -> W (in dbSNP:rs2363956).
Q8NAG6	297	297	P -> T (in dbSNP:rs891017).
Q8NAG6	395	395	R -> Q (in dbSNP:rs11086065).
Q8NAG6	407	407	V -> M (in dbSNP:rs34112069).
Q86XL3	122	122	H -> Y (in dbSNP:rs1132375).
Q86XL3	148	148	Q -> E (in dbSNP:rs7968520).
Q86XL3	720	720	R -> H (in dbSNP:rs10781634).
Q15327	116	116	T -> M (in TAPVR).
Q9GZV1	62	62	A -> T (in dbSNP:rs7094973).
Q9NU02	74	74	P -> T (in dbSNP:rs7260784).
Q9NU02	324	324	L -> Q (in dbSNP:rs652633).
Q9NU02	412	412	G -> E (in dbSNP:rs524625).
Q9NU02	694	694	K -> N (in a breast cancer sample; somatic mutation).
Q9NU02	742	742	R -> Q (in dbSNP:rs6087119).
Q9Y2G4	122	122	Q -> E (in dbSNP:rs16881983).
Q9Y2G4	128	128	V -> I (in dbSNP:rs3748085).
Q9Y2G4	233	233	T -> M (in dbSNP:rs2273238).
Q9Y2G4	545	545	T -> A (in dbSNP:rs9362667).
Q9Y2G4	550	550	A -> T (in dbSNP:rs9362667).
Q6ZW76	404	404	A -> T (in dbSNP:rs863980).
Q6ZW76	593	593	A -> T (in dbSNP:rs9936675).
Q8N9L6	644	644	V -> I (in dbSNP:rs6415847).
P0C0T2	823	823	R -> W (in cy).
Q9P2S6	89	89	D -> N (in dbSNP:rs35278753).
Q9P2S6	424	424	I -> M (in dbSNP:rs35996697).
Q9P2S6	451	451	D -> V (in dbSNP:rs3796118).
Q9P2S6	472	472	V -> L (in dbSNP:rs3821348).
Q9P2S6	649	649	T -> M (in dbSNP:rs35044862).
Q9H8Y5	569	569	R -> W (in dbSNP:rs2293076).
Q9H8Y5	676	676	P -> L (in dbSNP:rs2293079).
Q9NQW6	65	65	S -> W (in dbSNP:rs3735400).
Q9NQW6	185	185	R -> K (in dbSNP:rs197367).
Q6P2P2	483	483	S -> G (in dbSNP:rs17023638).
Q6P2P2	747	747	C -> Y (in dbSNP:rs11557361).
Q9NZ06	78	78	K -> M (in dbSNP:rs1804486).
Q9NZ06	158	158	L -> F (in dbSNP:rs11673683).
O60678	440	440	L -> V (in dbSNP:rs3758805).
O60678	470	470	S -> C (in dbSNP:rs11025585).
O60678	508	508	N -> S (in dbSNP:rs6483700).
Q96LA8	194	194	A -> V (in dbSNP:rs2232016).
Q9NW15	462	462	R -> Q (in dbSNP:rs3772165).
Q9NW15	561	561	T -> M (in dbSNP:rs17409162).
Q9NW15	583	583	V -> A (in dbSNP:rs17853862).
Q5XXA6	608	608	F -> S (in dbSNP:rs2186797).
Q5XXA6	983	983	G -> R (in dbSNP:rs3740722).
Q9NQ90	112	112	V -> A (in dbSNP:rs3741903).
Q9NQ90	147	147	P -> S (in dbSNP:rs3741901).
Q9NQ90	401	401	M -> I (in dbSNP:rs17788563).
Q9NQ90	505	505	S -> A (in dbSNP:rs1860961).
Q9NLA3	52	52	N -> T.
Q9BYT9	781	781	L -> V (in dbSNP:rs11825056).
Q32M45	115	115	G -> A (in dbSNP:rs34162417).
Q75V66	322	322	L -> F (in dbSNP:rs7481951).
Q75V66	356	356	C -> G (in GDD; decreases cell adhesion and changes cell morphology to a round shape).
Q75V66	356	356	C -> R (in GDD; decreases cell adhesion and changes cell morphology to a round shape).
Q75V66	882	882	N -> K (in dbSNP:rs34969327).
Q4KMQ2	128	128	A -> T (in dbSNP:rs2162321).
Q6IWH7	67	67	V -> I (in dbSNP:rs2302054).
A1A5B4	93	93	F -> L (in dbSNP:rs7395065).
A1A5B4	391	391	I -> V (in dbSNP:rs10794324).
A1A5B4	399	399	C -> R (in dbSNP:rs10794323).
P04002	36	36	A -> V.
P04002	70	70	A -> D.
P16066	182	182	A -> V.
P16066	270	270	F -> C (in a breast pleomorphic lobular carcinoma sample; somatic mutation).
P16066	755	755	V -> M.
P16066	939	939	R -> Q (in dbSNP:rs35240348).
P16066	967	967	E -> K (in dbSNP:rs35479618).
P20594	32	32	P -> T (in AMDM; dbSNP:rs28931581).
P20594	115	115	W -> G (in AMDM; markedly deficient activity; dbSNP:rs28931582).
P20594	176	176	D -> E (in AMDM; dbSNP:rs28929479).
P20594	232	232	M -> I (in dbSNP:rs55747238).
P20594	297	297	T -> M (in AMDM; markedly deficient activity).
P20594	338	338	Y -> C (in AMDM).
P20594	409	409	A -> T (in AMDM).
P20594	413	413	G -> E (in AMDM; markedly deficient activity).
P20594	708	708	Y -> C (in AMDM).
P20594	771	771	Q -> E (in dbSNP:rs5816).
P20594	776	776	R -> W (in AMDM).
P20594	882	882	V -> I (in dbSNP:rs55700371).
P20594	957	957	R -> C (in AMDM).
P20594	959	959	G -> A (in AMDM).
P70180	66	77	Missing (in Lgj-2J).
P70180	168	168	H -> N (in Lgj).
Q9NXR5	320	320	P -> L (in dbSNP:rs3742185).
Q6UB98	171	171	S -> T.
Q6UB98	277	277	P -> A (in dbSNP:rs2298548).
Q6UB98	390	390	E -> D (in dbSNP:rs35101529).
Q6UB98	507	507	T -> I (in dbSNP:rs17498752).
Q6UB98	531	531	T -> S (in dbSNP:rs7243088).
Q6UB98	818	818	S -> N (in dbSNP:rs2298546).
Q6UB98	906	906	K -> R (in dbSNP:rs4798791).
Q6UB98	998	998	L -> S (in dbSNP:rs34996750).
Q6UB98	1758	1758	S -> P (in dbSNP:rs3744822).
Q6P6B7	128	128	A -> G (in dbSNP:rs2296136).
Q6P6B7	353	353	Q -> R (in dbSNP:rs1052420).
Q9H6J9	2560	2560	H -> Y (in dbSNP:rs2306059).
Q5VYY1	73	73	E -> G (in dbSNP:rs17113412).
Q5VYY1	79	79	Y -> H (in dbSNP:rs17851907).
Q5VYY1	148	148	Q -> P (in dbSNP:rs2304804).
Q5VYY1	177	177	R -> I (in dbSNP:rs7912706).
Q8TF21	111	111	A -> T (in dbSNP:rs2052191).
Q8TF21	349	349	R -> Q (in dbSNP:rs12978469).
Q8TF21	585	585	E -> K (in dbSNP:rs10413818).
Q8TF21	684	684	S -> A (in dbSNP:rs353693).
Q9UPS8	20	20	Q -> R (in dbSNP:rs7897309).
Q9UPS8	425	425	I -> V (in dbSNP:rs12359281).
Q9UPS8	1219	1219	V -> L (in dbSNP:rs12572862).
Q9UPS8	1304	1304	V -> I (in dbSNP:rs10829163).
Q9UPS8	1513	1513	F -> L (in dbSNP:rs2274741).
Q811D2	114	114	S -> N.
Q811D2	142	142	V -> A.
Q811D2	218	218	M -> I.
Q811D2	399	399	D -> H.
Q811D2	450	450	N -> S.
Q96NW4	657	657	S -> G (in dbSNP:rs2287669).
Q96NW4	761	761	P -> R (in dbSNP:rs2302970).
Q8N6D5	95	95	V -> M (in a breast cancer sample; somatic mutation).
Q8N6D5	112	112	G -> E (in dbSNP:rs17855552).
Q8N7Z5	702	702	D -> N (in dbSNP:rs1422698).
Q8N7Z5	758	758	R -> G (in dbSNP:rs6893216).
Q8N7Z5	1609	1609	D -> E (in dbSNP:rs961098).
Q8N7Z5	1777	1777	R -> K (in dbSNP:rs4489037).
Q9BQI6	288	288	S -> R (in dbSNP:rs6891545).
Q7Z3H0	5	5	Y -> F (in dbSNP:rs697636).
Q7Z3H0	132	132	Q -> R (in dbSNP:rs34494292).
Q7Z3H0	188	188	T -> N (in dbSNP:rs12368048).
Q7Z3H0	261	261	V -> I (in dbSNP:rs3180417).
Q8N283	53	53	N -> K (in dbSNP:rs6658371).
Q8N283	428	428	P -> S (in dbSNP:rs6670984).
Q8N283	592	592	R -> Q (in dbSNP:rs41315701).
Q8N283	978	978	N -> D (in dbSNP:rs16827032).
Q7Z713	152	152	T -> S (in dbSNP:rs4317244).
Q53RE8	113	113	A -> T (in dbSNP:rs17852947).
Q8N9B4	198	198	N -> D (in dbSNP:rs17515016).
Q2M3V2	124	124	R -> P (in dbSNP:rs40274).
Q2M3V2	545	545	F -> L (in dbSNP:rs40470).
Q8N9V6	105	105	A -> G (in dbSNP:rs35096506).
Q8N9V6	153	153	L -> I (in dbSNP:rs17853403).
Q8N9V6	243	243	M -> T (in dbSNP:rs36123544).
Q3KP44	344	344	V -> M (in dbSNP:rs321776).
Q3KP44	593	593	R -> Q (in dbSNP:rs34879141).
A6NEL2	152	152	D -> G (in dbSNP:rs2703129).
A6NEL2	377	377	P -> T (in dbSNP:rs2703130).
A6NJG2	254	254	T -> A (in dbSNP:rs12841259).
Q9BZ19	295	295	R -> C (in dbSNP:rs584855).
A6NC57	188	188	A -> S (in dbSNP:rs1986751).
A6NC57	265	265	C -> R (in dbSNP:rs6505715).
A6NC57	406	406	E -> K (in dbSNP:rs4519391).
A6NC57	613	613	A -> T (in dbSNP:rs7243248).
Q92625	355	355	A -> D (in dbSNP:rs6930932).
Q92625	694	694	L -> S (in dbSNP:rs820085).
Q9X758	24	24	F -> L (in strain: Isolate 13).
Q9X758	140	140	G -> S (in strain: Isolate 13 and Isolate N2).
Q9X758	177	177	D -> G (in strain: Isolate 13 and Isolate N2).
Q9X758	197	197	V -> D (in strain: Isolate 13 and Isolate N2).
Q9X758	284	284	S -> P (in strain: Isolate 13 and Isolate N2).
Q9X758	297	297	T -> A (in strain: Isolate 13 and Isolate N2).
Q9X758	333	333	T -> A (in strain: Isolate 13).
Q9UC78	17	17	Y -> S (in AT3D; type-I).
Q9UC78	23	23	L -> P (in AT3D; type-I; impairs cotranslational processing).
Q9UC78	30	30	V -> E (in Dublin; dbSNP:rs2227624).
Q9UC78	32	32	C -> R (in AT3D; type-I).
Q9UC78	39	39	I -> N (in AT3D; type-II; Rouen-3; lack of heparin-binding properties; dbSNP:rs28929468).
Q9UC78	52	52	M -> T (previously Whitechapel).
Q9UC78	56	56	R -> C (in AT3D; type-II; Rouen-4; lack of heparin-binding properties; dbSNP:rs28929469).
Q9UC78	73	73	P -> L (in AT3D; type-II; Basel/ Franconville/Clichy-1/Clichy-2/Dublin-2; lacks heparin-binding ability).
Q9UC78	79	79	R -> C (in AT3D; Tours/Alger/Amiens/ Toyama/Paris-1/Paris-2/Padua-2/Barcelona- 2/Kumamoto/Omura/Sasebo; lacks heparin- binding ability).
Q9UC78	79	79	R -> H (in AT3D; type-II; Rouen-1/Padua- 1/Bligny/Budapest-2; lack of heparin- binding properties).
Q9UC78	79	79	R -> S (in AT3D; type-II; Rouen-2; lack of heparin-binding properties).
Q9UC78	87	87	Missing (in AT3D; type-I).
Q9UC78	89	89	R -> C (in AT3D; type-I).
Q9UC78	90	90	F -> L (in AT3D; type-I; Budapest-6).
Q9UC78	95	95	Y -> C (in AT3D; type-I).
Q9UC78	95	95	Y -> S (in AT3D; type-I).
Q9UC78	98	98	L -> P (in AT3D; type-I).
Q9UC78	108	109	Missing (in AT3D; type-I).
Q9UC78	112	112	P -> T (in AT3D; type-I).
Q9UC78	121	121	M -> K (in AT3D; type-I).
Q9UC78	127	127	C -> R (in AT3D; type-I).
Q9UC78	131	131	L -> F (in AT3D; type-II; Budapest-3/ Budapest-7).
Q9UC78	131	131	L -> V (in AT3D; type-II; Southport).
Q9UC78	133	133	Q -> K (in AT3D; type I).
Q9UC78	138	139	Missing (in AT3D; type-I).
Q9UC78	146	146	K -> E (in AT3D; Dreux; complete loss af heparin binding).
Q9UC78	147	147	T -> A (in dbSNP:rs2227606).
Q9UC78	148	148	S -> P (in AT3D; type-II; Nagasaki; defective heparin binding associated with thrombosis).
Q9UC78	150	150	Q -> P (in AT3D; type-II; Vienna).
Q9UC78	152	154	Missing (in AT3D; type-I).
Q9UC78	152	152	H -> Y (in AT3D; type-I).
Q9UC78	153	153	Missing (in AT3D; type-I).
Q9UC78	158	158	L -> P (in AT3D; type-I).
Q9UC78	160	160	C -> Y (in AT3D; type-I).
Q9UC78	161	161	R -> Q (in AT3D; type-II; Geneva).
Q9UC78	167	167	N -> T.
Q9UC78	178	178	L -> H (in AT3D; type-I).
Q9UC78	179	179	F -> L (in AT3D; type-I).
Q9UC78	190	190	Y -> C (polymorphism in population of Scandinavian origin).
Q9UC78	198	198	Y -> C (in AT3D; type-I and -II; Whitechapel).
Q9UC78	198	198	Y -> H (in AT3D; type-I).
Q9UC78	214	214	S -> F (in AT3D; type-I).
Q9UC78	214	214	S -> Y (in AT3D; type-I).
Q9UC78	218	218	Missing (in AT3D; type-I).
Q9UC78	219	219	N -> D (in AT3D; type-II; Rouen-6; increases affinity for heparin).
Q9UC78	219	219	N -> K (in AT3D; type-II; Glasgow-3).
Q9UC78	223	223	S -> P (in AT3D; type-I).
Q9UC78	243	243	T -> I (in AT3D; type-I).
Q9UC78	251	251	I -> T (in AT3D; type-I).
Q9UC78	257	257	W -> R (in AT3D; type-I).
Q9UC78	261	261	F -> L (in AT3D).
Q9UC78	269	269	E -> K (in AT3D; type-II; Truro, increases affinity for heparin).
Q9UC78	273	307	Missing (in AT3D; type-I).
Q9UC78	283	283	M -> I (in AT3D; type-II).
Q9UC78	283	283	M -> V (in AT3D; type-II).
Q9UC78	302	302	L -> P (in AT3D; type-I).
Q9UC78	316	316	I -> N (in AT3D; type-II; Haslar/ Whitechapel).
Q9UC78	323	323	S -> P (in AT3D).
Q9UC78	334	334	E -> K (in AT3D; type-II).
Q9UC78	344	344	Missing (in AT3D; type-I).
Q9UC78	381	381	S -> P (in AT3D; type-I).
Q9UC78	391	391	R -> Q.
Q9UC78	397	397	S -> P (in AT3D; type-I).
Q9UC78	398	398	D -> H (in AT3D; type-I).
Q9UC78	412	412	S -> R (in AT3D; type-I).
Q9UC78	414	414	A -> T (in AT3D; type-II; Hamilton/ Glasgow-2; reduces interaction with thrombin by 90%).
Q9UC78	416	416	A -> P (in AT3D; type-II; Charleville/ Sudbury/Vicenza/Cambridge-1; dbSNP:rs28930978).
Q9UC78	416	416	A -> S (in AT3D; type-II; Cambridge-2).
Q9UC78	419	419	A -> V (in AT3D; type-I).
Q9UC78	424	424	G -> D (in AT3D; type-II; Stockholm).
Q9UC78	425	425	R -> C (in AT3D; type-II; Northwick-Park/ Milano-1/Frankfurt-1; deprived of inhibitory activity).
Q9UC78	425	425	R -> H (in AT3D; type-II; Glasgow/ Sheffield/Chicago/Avranches/Kumamoto-2; increases affinity for heparin; deprived of inhibitory activity).
Q9UC78	425	425	R -> P (in AT3D; type-II; Pescara; deprived of inhibitory of activity).
Q9UC78	426	426	S -> L (in AT3D; type-II; Denver/Milano- 2; deprived of inhibitory activity).
Q9UC78	434	434	F -> C (in AT3D; type-II; Rosny).
Q9UC78	434	434	F -> L (in AT3D; type-II; Maisons- Laffite).
Q9UC78	434	434	F -> S (in AT3D; type-II; Torino).
Q9UC78	436	436	A -> T (in AT3D; type-II; Oslo/Paris-3).
Q9UC78	437	437	N -> K (in AT3D; type-II; La Rochelle).
Q9UC78	438	438	R -> G (in AT3D; type-II).
Q9UC78	438	438	R -> M (in AT3D; type-II; Kyoto).
Q9UC78	439	439	P -> L (in AT3D; type-II; Utah; deprived of inhibitory activity).
Q9UC78	439	439	P -> T (in AT3D; type-II; Budapest-5).
Q9UC78	441	441	L -> P (in AT3D; type-II).
Q9UC78	453	453	I -> T (in AT3D; type-I).
Q9UC78	456	456	G -> R (in AT3D; type-I).
Q9UC78	457	457	R -> T (in AT3D; type-II).
Q9UC78	459	461	Missing (in AT3D; type-I).
Q9UC78	459	459	A -> D (in AT3D; type-I).
Q9UC78	461	461	P -> L (in AT3D; type-II; Budapest).
Q9UC78	462	462	C -> F (in AT3D; type-I).
P15358	22	22	G -> R (in isoform B).
P15358	47	47	G -> E.
P15358	52	52	M -> V.
P15358	71	71	R -> I.
Q9H6X2	7	7	R -> K (in dbSNP:rs28365986).
Q9H6X2	326	326	A -> T (in HCI susceptibility; expression of FLT1 in hemangioma endothelial cells is markedly reduced compared to controls; low FLT1 expression in hemangioma cells is caused by reduced activity of a pathway involving ITGB1, ANTXR1, KDR and NFATC2IP; the mutation disrupts interaction of these molecules in a dominant-negative manner).
P58335	45	45	L -> P (in ISH).
P58335	105	105	G -> D (in JHF).
P58335	189	189	I -> T (in ISH).
P58335	218	218	C -> R (in ISH).
P58335	293	293	V -> VQ (in JHF).
P58335	329	329	L -> R (in JHF).
P58335	357	357	P -> A (in dbSNP:rs12647691).
P58335	381	381	Y -> C (in JHF).
A6NF34	547	547	P -> R (in dbSNP:rs7091749).
Q86XD8	118	118	K -> T (in dbSNP:rs17854567).
Q86XD8	358	358	H -> Y (in dbSNP:rs12267385).
Q86XD8	523	523	T -> A (in dbSNP:rs34082391).
Q9UJ72	71	71	M -> L (in dbSNP:rs6836994).
P50995	191	191	R -> Q (in dbSNP:rs2229554).
P50995	230	230	R -> C (in dbSNP:rs1049550).
P50995	457	457	I -> V (in dbSNP:rs1802932).
P27216	86	86	R -> H (in dbSNP:rs2294013).
P27216	108	108	V -> I (in dbSNP:rs6995099).
P27216	272	272	V -> I (in dbSNP:rs2294015).
P24801	244	244	S -> R.
P24801	258	258	L -> S.
P07355	98	98	V -> L.
P12429	19	19	S -> N (in dbSNP:rs5951).
P12429	219	219	I -> N (in dbSNP:rs5948).
P12429	251	251	P -> L (in dbSNP:rs5949).
P12429	291	291	F -> S (in dbSNP:rs5941).
P09525	85	85	T -> M (in dbSNP:rs2228203).
P81287	37	37	T -> S.
P81287	126	126	E -> K.
P20073	441	441	R -> Q (in dbSNP:rs3750575).
P13928	6	6	S -> A.
P13928	177	177	G -> A (in dbSNP:rs3013886).
O76027	28	28	A -> T (in dbSNP:rs16832595).
O76027	114	114	T -> A (in dbSNP:rs7536645).
O76027	119	119	A -> T (in dbSNP:rs16832602).
O76027	166	166	D -> G (in dbSNP:rs267733).
O76027	225	225	R -> Q (in dbSNP:rs7542365).
O76027	232	232	R -> Q (in dbSNP:rs7542365).
P28039	28	28	D -> N (in dbSNP:rs11976480).
P28039	166	166	A -> T (in dbSNP:rs3735384).
P28039	266	266	A -> G (in dbSNP:rs3735386).
O75106	5	5	I -> V (in dbSNP:rs34230945).
O75106	22	22	Y -> C (in dbSNP:rs34435306).
O75106	141	141	P -> L (in dbSNP:rs35833794).
O75106	273	273	R -> Q (in dbSNP:rs35508987).
O75106	427	427	E -> D (in dbSNP:rs34351794).
Q16853	5	5	T -> R (in dbSNP:rs33954211).
Q16853	78	78	R -> Q (in dbSNP:rs402680).
Q16853	167	167	H -> Y (in dbSNP:rs2228470).
Q16853	171	171	V -> M (in dbSNP:rs408038).
Q16853	203	203	H -> R (in dbSNP:rs630079).
Q16853	317	317	Y -> H (in dbSNP:rs438287).
Q16853	329	329	R -> Q (in dbSNP:rs2229595).
Q16853	371	371	I -> T (in dbSNP:rs35097308).
Q16853	408	408	A -> S (in dbSNP:rs35643019).
Q16853	426	426	R -> H (in dbSNP:rs33986943).
Q16853	441	441	R -> W (in dbSNP:rs2229596).
Q16853	582	582	A -> T (in dbSNP:rs34987927).
Q16853	700	700	G -> S (in dbSNP:rs477207).
Q16853	749	749	A -> V (in dbSNP:rs34012919).
P21397	15	15	D -> E (in a breast cancer sample; somatic mutation).
P21397	314	314	F -> V (in dbSNP:rs1799835).
P21397	520	520	K -> R (in dbSNP:rs1800466).
Q63HQ0	297	297	T -> I (in dbSNP:rs34900583).
Q10567	777	777	T -> A (in dbSNP:rs2857465).
O43747	195	195	V -> G (in dbSNP:rs36037071).
O43747	685	685	P -> H (in dbSNP:rs904763).
O75843	377	377	S -> F (in dbSNP:rs12897422).
Q9BXS5	303	303	R -> Q (in a breast cancer sample; somatic mutation).
P35631	85	85	S -> P (in strain: cv. Chi-1).
P35631	93	93	M -> T (in strain: cv. Bla-1).
P35631	99	99	K -> R (in strain: cv. Chi-1).
P35631	100	100	A -> T (in strain: cv. Landsberg erecta).
P35631	120	120	M -> V (in strain: cv. Jl-1).
P35631	125	125	L -> P (in strain: cv. Bla-1).
P35631	166	166	S -> G (in strain: cv. Jl-1).
P35631	212	212	L -> P (in strain: cv. Chi-1).
P35631	233	233	A -> V (in strain: cv. Co-1).
O95782	270	270	P -> L (in dbSNP:rs17851121).
P91926	207	207	T -> A (in RNA edited version).
P05549	249	249	L -> P (in BOFS).
P05549	254	254	R -> G (in BOFS).
P05549	255	255	R -> G (in BOFS).
P05549	262	262	G -> E (in BOFS).
Q92481	73	73	P -> R (in CHAR).
Q92481	236	236	R -> C (in CHAR).
Q92481	236	236	R -> S (in CHAR).
Q92481	275	275	A -> D (in CHAR).
Q92481	285	285	R -> Q (in CHAR).
Q92481	300	300	R -> C (in CHAR).
Q7Z6R9	214	214	V -> F (in a breast cancer sample; somatic mutation).
P59632	11	11	G -> R (in strain: Isolate Tor2, Isolate BJ02 and Isolate BJ03).
P59632	20	20	I -> T (in strain: Isolate Shanghai LY).
P59632	29	29	V -> A (in strain: Isolate Shanghai QXC1).
P59632	101	101	M -> K (in strain: Isolate HKU-39849).
P59632	129	129	L -> F (in strain: Isolate TWK).
P59632	136	136	K -> Q (in strain: Isolate BJ01).
P59632	171	171	E -> A (in strain: Isolate GD01).
P59632	193	193	R -> W (in strain: Isolate GD01).
P59632	222	222	D -> N (in strain: Isolate Shanghai QXC1).
O00203	390	410	Missing (in HPS2).
O00203	580	580	L -> R (in HPS2).
O00203	585	585	V -> E (in dbSNP:rs6453373).
O14617	541	541	G -> R (in dbSNP:rs34569645).
O14617	1072	1072	I -> V (in dbSNP:rs25673).
Q92572	158	158	P -> L (in dbSNP:rs7733604).
Q9SQ18	31	31	K -> R (in strain: cv. Lisse).
Q9SQ18	47	47	M -> T (in strain: cv. Bretagny).
Q9SQ18	61	61	N -> D (in strain: cv. Corsacalla-1).
Q9SQ18	73	73	T -> S (in strain: cv. Li-8).
Q9SQ18	109	109	L -> V (in strain: cv. Kas-1).
Q9SQ18	115	115	E -> K (in strain: cv. Chi-1 and cv. Gr- 3).
Q9SQ18	128	128	M -> K (in strain: cv. Bla-1).
Q9SQ18	137	137	E -> A (in strain: cv. Lisse).
Q9SQ18	141	141	K -> E (in strain: cv. Lisse).
Q9SQ18	145	145	N -> S (in strain: cv. Lisse).
Q9SQ18	151	151	K -> M (in strain: cv. Kent).
Q9SQ18	154	154	N -> S (in strain: cv. Kas-1).
Q9SQ18	159	159	D -> G (in strain: cv. Kent).
Q9SQ18	159	159	D -> N (in strain: cv. Li-8).
Q9SQ18	163	163	N -> D (in strain: cv. Li-8).
Q9SQ18	212	212	Y -> C (in strain: cv. Li-8).
Q9SQ18	219	219	A -> T (in strain: cv. Bla-1).
Q9Y6B7	480	480	L -> S (in dbSNP:rs1217401).
Q9UPM8	163	163	C -> R (in dbSNP:rs2306331).
Q02410	184	184	S -> A (in dbSNP:rs34788368).
Q99767	311	311	L -> P (in dbSNP:rs8040932).
O96018	154	154	W -> L (in dbSNP:rs35932323).
O96018	276	276	K -> T (in dbSNP:rs3746119).
O96018	376	376	C -> R (in dbSNP:rs8102086).
O96018	527	527	I -> F (in dbSNP:rs1045236).
O00213	327	327	M -> V (in dbSNP:rs1800423).
O00213	396	396	N -> S (in dbSNP:rs1800425).
O95704	165	165	G -> R (in dbSNP:rs7715021).
O95704	231	231	R -> C (in dbSNP:rs250430).
Q92624	561	561	S -> N (in dbSNP:rs34146848).
Q9UM13	46	46	R -> Q (in dbSNP:rs35257136).
O95996	562	562	A -> S (in a breast cancer sample; somatic mutation).
O95996	2003	2003	G -> S (in a breast cancer sample; somatic mutation).
O95996	2241	2241	S -> A (in dbSNP:rs265277).
Q9UJX5	155	155	I -> V (in a colorectal cancer sample; somatic mutation).
Q9UJX5	465	465	R -> Q (in dbSNP:rs34811474).
Q9UJX5	800	800	E -> G (in dbSNP:rs11550697).
Q9UJX4	617	617	Q -> H (in a breast cancer sample; somatic mutation).
Q8J025	9	9	L -> R (in HTSS; dominant-negative mutant that perturbs the translational processing from the endoplasmic reticulum to the plasma membrane).
Q8J025	150	150	V -> I (in dbSNP:rs3748415).
Q8NCL9	30	30	C -> R (in dbSNP:rs3946003).
Q8NCL9	80	80	Y -> H (in dbSNP:rs7265854).
Q8NCL9	83	83	R -> Q (in dbSNP:rs7265902).
Q8NCL9	261	261	R -> C (in dbSNP:rs16981999).
P25054	99	99	R -> W (in FAP; could be a rare polymorphism).
P25054	171	171	S -> I (in FAP).
P25054	414	414	R -> C (in FAP).
P25054	722	722	S -> G (in FAP).
P25054	784	784	S -> T (in FAP).
P25054	817	817	G -> C (in gastric cancer).
P25054	870	870	P -> S (in dbSNP:rs33974176).
P25054	880	880	I -> T (in colorectal carcinoma and gastric cancer; from a patient with MMRCS).
P25054	890	890	V -> I (in colorectal carcinoma; from a patient with MMRCS).
P25054	906	906	S -> Y (in colorectal tumor).
P25054	911	911	E -> G (in FAP and colorectal tumor).
P25054	942	942	N -> D (in gastric cancer).
P25054	1027	1027	Y -> C (in colorectal tumor).
P25054	1057	1057	E -> G (in non-FAP).
P25054	1118	1118	N -> D.
P25054	1120	1120	G -> E (in gastric cancer; dbSNP:rs28933379).
P25054	1171	1171	R -> C (in FAP; could be a polymorphism).
P25054	1171	1171	R -> H (in gastric cancer).
P25054	1176	1176	P -> L (in FAP).
P25054	1184	1184	A -> P (in FAP).
P25054	1197	1197	F -> S (in gastric cancer).
P25054	1254	1254	I -> F (in a colorectal cancer sample; somatic mutation).
P25054	1259	1259	I -> T (in gastric cancer).
P25054	1292	1292	T -> M.
P25054	1296	1296	A -> V (in MDB; sporadic).
P25054	1304	1304	I -> V.
P25054	1307	1307	I -> K (in 6% of Ashkenazi Jews; associated with slightly increased risk of colon and breast cancer; dbSNP:rs1801155).
P25054	1312	1312	G -> E (in gastric cancer).
P25054	1313	1313	T -> A (in FAP and colorectal tumor).
P25054	1317	1317	E -> Q (may contribute to colorectal tumor development; dbSNP:rs1801166).
P25054	1326	1326	V -> A (in gastric cancer).
P25054	1348	1348	R -> W (in FAP).
P25054	1422	1422	D -> H (in colorectal tumor).
P25054	1472	1472	V -> I (in MDB; sporadic).
P25054	1495	1495	S -> G (in MDB; sporadic).
P25054	1496	1496	T -> S (in dbSNP:rs2229996).
P25054	1508	1508	A -> V (in colorectal carcinoma from a patient with MMRCS).
P25054	1822	1822	V -> D (in dbSNP:rs459552).
P25054	1882	1882	R -> T (in dbSNP:rs34157245).
P25054	1973	1973	S -> T (in dbSNP:rs4987109).
P25054	2499	2499	V -> L (in dbSNP:rs33941929).
P25054	2502	2502	G -> S (in dbSNP:rs2229995).
P25054	2621	2621	S -> C (in FAP).
P25054	2738	2738	I -> T (in FAP).
P25054	2839	2839	L -> F (in FAP).
Q61315	120	120	T -> A (in strain: CAST/Ei).
Q61315	493	493	V -> I (in strain: CAST/Ei).
Q61315	797	797	Y -> F (in strain: CAST/Ei).
Q61315	1330	1330	A -> T (in strain: CAST/Ei).
Q61315	1618	1618	A -> S (in strain: CAST/Ei).
Q61315	2294	2294	G -> A (in strain: CAST/Ei).
Q61315	2496	2496	H -> Q (in strain: CAST/Ei).
Q61315	2523	2523	T -> A (in strain: CAST/Ei).
Q61315	2813	2813	T -> S (in strain: CAST/Ei).
P27695	51	51	Q -> H (in dbSNP:rs1048945).
P27695	64	64	I -> V (in dbSNP:rs2307486).
P27695	148	148	D -> E (in dbSNP:rs1130409).
Q9UBZ4	141	141	R -> C (in dbSNP:rs2301416).
Q9UBZ4	141	141	R -> W (in dbSNP:rs2301416).
Q8WW43	217	217	F -> L (in dbSNP:rs1047552).
Q9BZZ5	276	276	P -> S.
Q9BZZ5	300	300	M -> V (in dbSNP:rs5743240).
Q9BZZ5	493	493	G -> S (in dbSNP:rs2862934).
P35414	300	300	V -> I (in dbSNP:rs7943508).
Q8IW19	100	100	I -> V (in dbSNP:rs11902811).
Q8IW19	224	224	S -> T (in dbSNP:rs35002937).
Q8IW19	336	336	L -> F (in dbSNP:rs13404469).
Q06481	632	632	D -> N (in dbSNP:rs3740881).
Q9V496	1696	1696	S -> Y (in strain: 253.30).
Q9HDC9	65	65	I -> V (in dbSNP:rs17298715).
Q9HDC9	282	282	R -> Q (in dbSNP:rs35097515).
Q9HDC9	374	374	R -> W (in dbSNP:rs28364786).
P02647	27	27	P -> H (in Munster-3C).
P02647	27	27	P -> R.
P02647	28	28	P -> R (in Munster-3B).
P02647	34	34	R -> L (in Baltimore; dbSNP:rs28929476).
P02647	50	50	G -> R (in AMYLIOWA; dbSNP:rs28931574).
P02647	61	61	A -> T.
P02647	84	84	L -> R (in AMYL8).
P02647	92	92	T -> I.
P02647	113	113	D -> E.
P02647	119	119	A -> D (in Hita).
P02647	126	126	D -> H (in dbSNP:rs5077).
P02647	127	127	D -> N (in Munster-3A).
P02647	131	131	K -> M (in dbSNP:rs4882).
P02647	131	131	Missing (in Marburg/Munster-2).
P02647	132	132	W -> R (in Tsushima).
P02647	134	134	E -> K (in Fukuoka).
P02647	160	160	E -> K (in Norway).
P02647	163	163	E -> G.
P02647	167	167	P -> R (in Giessen).
P02647	168	168	L -> R (in Zaragoza).
P02647	171	171	E -> V.
P02647	180	180	V -> E (in Oita; 60% of normal apoA-I and normal HDL cholesterol levels. Rapidly cleared from plasma).
P02647	184	184	R -> P (in dbSNP:rs5078).
P02647	189	189	P -> R.
P02647	197	197	R -> C (in Milano; associated with decreased HDL levels and moderate increases in triglycerides; no evidence of association with premature vascular disease; dbSNP:rs28931573).
P02647	222	222	E -> K (in Munster-4).
P09813	28	28	P -> Q (in SAM).
P09813	43	43	E -> D (in strain: C57BL/6J and DBA/2J).
P09813	49	49	V -> M (in strain: C57BL/6J and DBA/2J).
P09813	61	61	V -> A (in strain: C57BL/6J and DBA/2J).
P06727	13	13	V -> M (in allele APOA-IV*1D).
P06727	44	44	E -> K (in Budapest-2).
P06727	74	74	G -> S (in dbSNP:rs5102).
P06727	77	77	Q -> H.
P06727	147	147	N -> S (in allele APOA-IV*1B; dbSNP:rs5104).
P06727	161	161	A -> S (in Seattle-3).
P06727	178	178	S -> L (in Seattle-1; may contribute to the development of familial combined hyperlipidemia).
P06727	185	185	E -> K (in allele APOA-IV*3).
P06727	187	187	K -> E (in allele APOA-IV*0A).
P06727	250	250	E -> K (in allele APOA-IV*3A).
P06727	264	264	R -> Q (in Seattle-2; may contribute to the development of familial combined hyperlipidemia; dbSNP:rs2238008).
P06727	279	279	R -> K (in dbSNP:rs1042372).
P06727	305	305	R -> C (in Budapest-1).
P06727	307	307	V -> L (in dbSNP:rs5108).
P06727	367	367	T -> S (in allele APOA-IV*1A and allele Budapest-1; dbSNP:rs675).
P06727	380	380	Q -> H (in allele APOA-IV*2; dbSNP:rs5110).
P06727	381	381	Q -> QEQQQ (in allele APOA-IV*0 and allele APOA-IV*5).
P06728	382	385	Missing (in strain: various strains).
Q28758	80	80	K -> E (in isoform E).
P02651	253	253	Q -> H.
Q6Q788	19	19	S -> W (in allele APOA5*3; associated with high plasma triglyceride levels; dbSNP:rs3135506).
Q6Q788	37	37	D -> E (in dbSNP:rs34282181).
Q6Q788	153	153	V -> M (in dbSNP:rs3135507).
Q6Q788	185	185	G -> C (associated with high plasma triglyceride levels; dbSNP:rs2075291).
P08519	3498	3498	R -> Q (in dbSNP:rs41259144).
P08519	3866	3866	L -> V (in dbSNP:rs7765803).
P08519	3880	3880	L -> V (in dbSNP:rs7765781).
P08519	3907	3907	T -> P (in dbSNP:rs41272110).
P08519	3929	3929	R -> Q (in dbSNP:rs41272112).
P08519	4106	4106	M -> T (in dbSNP:rs41264308).
P08519	4187	4187	M -> T (in dbSNP:rs1801693).
P08519	4193	4193	W -> R (loss of lysine-sepharose binding).
P08519	4330	4330	G -> A (in dbSNP:rs41265936).
P08519	4399	4399	I -> M (in dbSNP:rs3798220).
P08519	4524	4524	R -> C (in dbSNP:rs3124784).
Q13787	98	98	T -> I (in dbSNP:rs1367117).
Q13787	103	103	Y -> H (in dbSNP:rs9282603).
Q13787	145	145	P -> S (in dbSNP:rs6752026).
Q13787	194	194	T -> M (in dbSNP:rs13306198).
Q13787	273	273	K -> N (in dbSNP:rs1126419).
Q13787	408	408	I -> T (in dbSNP:rs12714225).
Q13787	490	490	R -> W (in FHBL; reduced protein secretion).
Q13787	554	554	P -> L (in dbSNP:rs12714214).
Q13787	618	618	A -> V (in dbSNP:rs679899).
Q13787	730	730	V -> I (in dbSNP:rs12691202).
Q13787	733	733	V -> I (in dbSNP:rs1800476).
Q13787	741	741	T -> N (in dbSNP:rs12714192).
Q13787	877	877	P -> L (in dbSNP:rs12714097).
Q13787	955	955	P -> S (in dbSNP:rs13306206).
Q13787	1086	1086	G -> S (in dbSNP:rs12720801).
Q13787	1113	1113	D -> H (in dbSNP:rs12713844).
Q13787	1128	1128	R -> H (in dbSNP:rs12713843).
Q13787	1218	1218	Q -> E (in dbSNP:rs1041956).
Q13787	1388	1388	R -> H (in dbSNP:rs13306187).
Q13787	1422	1422	Y -> C (in dbSNP:rs568413).
Q13787	1437	1437	F -> L (in dbSNP:rs1801697).
Q13787	1914	1914	N -> S (in dbSNP:rs1801699).
Q13787	1923	1923	H -> R (in dbSNP:rs533617).
Q13787	2092	2092	L -> V (in dbSNP:rs1041960).
Q13787	2299	2299	D -> H (in dbSNP:rs12713681).
Q13787	2313	2313	I -> V (in dbSNP:rs584542).
Q13787	2365	2365	A -> T (in dbSNP:rs1041971).
Q13787	2456	2456	A -> D (in dbSNP:rs12713675).
Q13787	2564	2564	F -> C (in a colorectal cancer sample; somatic mutation).
Q13787	2566	2566	E -> K (in dbSNP:rs1801696).
Q13787	2680	2680	L -> Q (in dbSNP:rs1042013).
Q13787	2739	2739	P -> L (in dbSNP:rs676210).
Q13787	2785	2785	N -> H (in dbSNP:rs2163204).
Q13787	3121	3121	A -> T (in dbSNP:rs1801694).
Q13787	3182	3182	H -> N (in dbSNP:rs12720848).
Q13787	3279	3279	S -> G (in dbSNP:rs12720854).
Q13787	3294	3294	S -> P (in dbSNP:rs12720855).
Q13787	3319	3319	D -> H.
Q13787	3427	3427	T -> K.
Q13787	3432	3432	Q -> E (in dbSNP:rs1042023).
Q13787	3527	3527	R -> Q (in FDB; dbSNP:rs5742904).
Q13787	3558	3558	R -> C (in FDB; dbSNP:rs12713559).
Q13787	3638	3638	R -> Q (in dbSNP:rs1801701).
Q13787	3732	3732	I -> T (in dbSNP:rs1042025).
Q13787	3801	3801	S -> T (in dbSNP:rs12713540).
Q13787	3921	3921	V -> I.
Q13787	3945	3945	T -> A (in dbSNP:rs1801698).
Q13787	3949	3949	F -> L (in dbSNP:rs1042027).
Q13787	3964	3964	Y -> F (in dbSNP:rs1126468).
Q13787	4128	4128	V -> M (in dbSNP:rs1801703).
Q13787	4181	4181	E -> K (in dbSNP:rs1042031).
Q13787	4270	4270	R -> T (in dbSNP:rs1801702).
Q13787	4338	4338	S -> N (in dbSNP:rs1042034).
Q13787	4394	4394	V -> A (in dbSNP:rs12720843).
Q13787	4481	4481	A -> T (in dbSNP:rs1801695).
Q13787	4484	4484	T -> M (in dbSNP:rs12713450).
P02654	16	16	I -> M (in dbSNP:rs5112).
P02654	71	71	T -> S (polymorphism found only in persons of American Indian or Mexican ancestry; more susceptible to N-terminal truncation and shows greater distribution to the VLDL than the protein with T-71).
P02655	41	41	K -> T.
P02655	48	48	W -> R (in hyperlipoproteinemia type 1B; variant Wakayama).
P02655	60	60	E -> K (in San Francisco; found in hyperlipidemic patients; dbSNP:rs5122).
P02655	77	77	K -> Q (in Africa; dbSNP:rs5126).
P02656	78	78	K -> E (in hyperalphalipoproteinemia).
P02656	94	94	T -> A (in C-III-0; unglycosylated).
P55056	36	36	L -> P (in dbSNP:rs1132899).
P55056	52	52	G -> D.
P55056	75	75	P -> Q (in a breast cancer sample; somatic mutation).
P55056	96	96	L -> R (in dbSNP:rs5167).
P55056	126	126	Q -> L (in dbSNP:rs5168).
P05090	15	15	F -> S (in dbSNP:rs5952).
P05090	115	115	S -> L (in dbSNP:rs5954).
P05090	178	178	T -> K (in dbSNP:rs5955).
P51910	146	146	V -> F (in strain: Swiss Webster).
P02649	21	21	E -> K (in isoform E5; associated with hyperlipoproteinemia and atherosclerosis).
P02649	31	31	E -> K (in hyperlipoproteinemia type 3; isoforms E4 Philadelphia and isoform E5- type; only isoform E4 Philadelphia is disease-linked).
P02649	43	43	R -> C (in LPG; isoform E2 Kyoto).
P02649	46	46	L -> P (in isoform E4 Freiburg; dbSNP:rs769452).
P02649	60	60	T -> A (in isoform E3 Freiburg; dbSNP:rs28931576).
P02649	64	64	Q -> H.
P02649	99	99	Q -> K (in isoform E5 Frankfurt).
P02649	102	102	P -> R (in isoform E5-type; no hyperlipidemia; dbSNP:rs28931578).
P02649	117	117	A -> T (in isoform E3*; dbSNP:rs28931577).
P02649	124	124	A -> V (in isoform E3 Basel).
P02649	130	130	C -> R (in hyperlipoproteinemia type 3; isoform E3**, isoform E4, isoform E4/3 and some isoforms E5-type; only isoform E3** is disease-linked; dbSNP:rs429358).
P02649	145	145	G -> D (in isoform E1 Weisgraber).
P02649	145	145	G -> GEVQAMLG (in hyperlipoproteinemia type III; isoform E3 Leiden).
P02649	152	152	R -> Q (in isoform E2-type; no hyperlipidemia; dbSNP:rs28931578).
P02649	154	154	R -> C (in hyperlipoproteinemia type 3; isoform E2-type).
P02649	154	154	R -> S (in hyperlipoproteinemia type 3; isoform E2 Christchurch).
P02649	160	160	R -> C (in hyperlipoproteinemia type III; isoform E3**).
P02649	163	163	R -> C (in hyperlipoproteinemia type 3; isoform E4 Philadelphia and isoform E2- type; only isoform E4 Philadelphia is disease-linked; dbSNP:rs769455).
P02649	163	163	R -> H (in E3 Kochi).
P02649	163	163	R -> P (in LPG; isoform E2 Sendai).
P02649	164	164	K -> E (in hyperlipoproteinemia type 3; isoform E1 Harrisburg).
P02649	164	164	K -> Q (in hyperlipoproteinemia type 3; isoform E2**).
P02649	167	167	Missing (in sea-blue histiocyte disease).
P02649	170	170	A -> P (in isoform E3*).
P02649	176	176	R -> C (in hyperlipoproteinemia type 3; isoforms E1 Weisgraber, isoform E2 and isoform E3**; dbSNP:rs7412).
P02649	242	242	R -> Q (in isoform E2 Fukuoka).
P02649	246	246	R -> C (in isoform E2 Dunedin).
P02649	254	254	V -> E (in isoform E2 W.G.).
P02649	262	263	EE -> KK (in hyperlipoproteinemia type III; isoform E7 Suita).
P02649	269	269	R -> G (in isoform E3 H.B. and isoform E4/3).
P02649	270	270	L -> E (in isoform E1 H.E.; requires 2 nucleotide substitutions).
P02649	292	292	R -> H (in isoform E4 P.D.).
P02649	314	314	S -> R (in isoform E4 H.G.; dbSNP:rs28931579).
Q7M2U8	258	258	S -> A.
Q13790	160	160	A -> G (in dbSNP:rs11575216).
P02749	5	5	V -> A (in dbSNP:rs3826358).
P02749	107	107	S -> N (in allele APOH*1; dbSNP:rs1801692).
P02749	154	154	R -> H (in dbSNP:rs8178847).
P02749	266	266	V -> L (in 23% of the population; dbSNP:rs4581).
P02749	325	325	C -> G (loss of phosphatidylserine- binding; dbSNP:rs1801689).
P02749	335	335	W -> S (in allele APOH*3W; loss of phosphatidylserine-binding; dbSNP:rs1801690).
Q95LB0	229	229	K -> E (in allele APOH*4).
O14791	150	150	E -> K (in dbSNP:rs2239785).
O14791	188	188	I -> T (in a breast cancer sample; somatic mutation).
O14791	228	228	M -> I (in dbSNP:rs136175).
O14791	255	255	R -> K (in dbSNP:rs136176).
O14791	337	337	D -> N (in dbSNP:rs16996616).
O14791	384	384	I -> M (in dbSNP:rs60910145).
Q9UH10	182	182	R -> C (in dbSNP:rs7285167).
Q9UH10	245	245	I -> V (in dbSNP:rs132760).
O95236	39	39	S -> R (in dbSNP:rs132653).
O95236	135	135	A -> V (in dbSNP:rs6000152).
Q9BPW4	9	9	I -> V (in dbSNP:rs132736).
Q9BPW4	12	12	V -> L (in dbSNP:rs80587).
Q9BPW4	159	159	M -> V (in dbSNP:rs132700).
Q9BPW4	223	223	R -> H (in dbSNP:rs2227168).
Q9BPW4	319	319	A -> E (in dbSNP:rs6000173).
Q9BPW4	326	326	S -> L (in dbSNP:rs6000172).
Q9BWW9	37	37	E -> K (in dbSNP:rs5999985).
Q9BWW9	81	81	E -> K (in dbSNP:rs5999985).
Q9BWW9	272	272	T -> M (in dbSNP:rs2076671).
Q9BWW9	323	323	T -> M (in dbSNP:rs2076672).
Q9BWW9	406	406	S -> C (in dbSNP:rs2076673).
Q9BWW8	173	173	N -> K (in dbSNP:rs5999923).
Q6UW56	209	209	A -> S (in dbSNP:rs7437).
Q03023	127	127	D -> H (in strain: IFO 3455).
Q03023	176	176	G -> A (in strain: IFO 3455).
Q03023	195	197	HPG -> T (in strain: IFO 3455).
Q03023	350	350	I -> Y (in strain: IFO 3455).
Q03023	388	389	GD -> A (in strain: IFO 3455).
Q03023	391	392	AE -> SP (in strain: IFO 3455).
Q03023	394	396	SAA -> PPR (in strain: IFO 3455).
Q03023	435	439	KAGQA -> NAQG (in strain: IFO 3455).
Q03023	454	454	I -> V (in strain: IFO 3455).
Q03023	460	460	A -> R (in strain: IFO 3455).
Q03023	479	479	V -> L (in strain: IFO 3455).
Q8IVJ8	107	107	H -> Y (in dbSNP:rs17266511).
Q9LVG4	90	90	V -> I (in strain: cv. Cvi-0).
Q9LVG4	210	210	Q -> E (in strain: cv. Cvi-0 and cv. Landsberg erecta).
Q9LVG4	267	268	DA -> ES (in strain: cv. Cvi-0 and cv. Landsberg erecta).
Q9LVG4	329	329	N -> K (in strain: cv. Cvi-0 and cv. Landsberg erecta).
Q53RT3	49	49	T -> A (in dbSNP:rs3796097).
Q7Z6V7	211	211	K -> Q (in AOA; it probably does not greatly affect the protein; heterozygous).
Q7Z6V7	212	212	A -> V (in AOA; heterozygous).
Q7Z6V7	213	213	R -> H (in AOA).
Q7Z6V7	215	215	H -> R (in AOA).
Q7Z6V7	220	220	P -> L (in AOA).
Q7Z6V7	237	237	L -> P (in AOA).
Q7Z6V7	277	277	V -> G (in AOA; abolishes DNA-binding and enzymatic activity towards Ap(4)A).
Q7Z6V7	281	281	D -> G (in AOA; heterozygous).
Q7Z6V7	293	293	W -> R (in AOA; heterozygous).
P07741	65	65	D -> V (in APRTD; Icelandic type).
P07741	110	110	L -> P (in APRTD; Newfoundland type).
P07741	121	121	Q -> R (in dbSNP:rs8191494).
P07741	136	136	M -> T (in APRTD; Japanese type; allele APRT*J; most common mutation; dbSNP:rs28999113).
P07741	150	150	V -> F (in APRTD).
P07741	153	153	C -> R (in APRTD).
P07741	173	173	Missing (in APRTD).
P50635	9	9	E -> A (in strain: Rockefeller).
P50635	30	30	V -> P (in strain: Rockefeller).
P50635	61	61	V -> A (in strain: Rockefeller).
P50635	224	224	N -> K (in strain: Rockefeller).
P50635	284	284	L -> I (in strain: Rockefeller).
P50635	314	315	EE -> DT (in strain: Rockefeller).
P50635	319	320	KN -> QH (in strain: Rockefeller).
P50635	347	347	A -> E (in strain: Rockefeller).
P50635	361	361	M -> K (in strain: Rockefeller).
P50635	472	472	V -> I (in strain: Rockefeller).
P50635	491	491	K -> E (in strain: Rockefeller).
P50635	498	498	E -> Q (in strain: Rockefeller).
Q96PS8	15	15	R -> Q (in dbSNP:rs6668968).
Q96PS8	123	123	H -> Y (in dbSNP:rs6685323).
Q8NBQ7	102	102	G -> S (in dbSNP:rs2276415).
P29972	38	38	P -> L (in Co(A-B-) antigen; non functional AQP1; red cells show low osmotic water permeability).
P29972	45	45	A -> V (in Co(A-B+) antigen; dbSNP:rs28362692).
P29972	165	165	G -> D (in dbSNP:rs28362731).
P41181	22	22	L -> V (in ANDI).
P41181	28	28	L -> P (in ANDI).
P41181	47	47	A -> V (in ANDI).
P41181	57	57	Q -> P (in ANDI; dbSNP:rs28931580).
P41181	64	64	G -> R (in ANDI).
P41181	68	68	N -> S (in ANDI).
P41181	70	70	A -> D (in ANDI).
P41181	71	71	V -> M (in ANDI).
P41181	100	100	G -> R (in ANDI).
P41181	100	100	G -> V (in ANDI; dbSNP:rs28929477).
P41181	121	121	L -> F (in dbSNP:rs11169226).
P41181	125	125	T -> M (in ANDI).
P41181	126	126	T -> M (in ANDI).
P41181	147	147	A -> T (in ANDI).
P41181	168	168	V -> M (in ANDI).
P41181	175	175	G -> R (in ANDI).
P41181	180	180	G -> S (in ANDI).
P41181	181	181	C -> W (in ANDI).
P41181	185	185	P -> A (in ANDI).
P41181	187	187	R -> C (in ANDI; mutant protein does not fold properly and is not functional).
P41181	187	187	R -> H (in ANDI).
P41181	190	190	A -> T (in ANDI; mutant protein does not fold properly and is not functional).
P41181	194	194	V -> I.
P41181	202	202	W -> C (in ANDI).
P41181	216	216	S -> P (in ANDI).
P41181	254	254	R -> L (in ANDI; results in the loss of arginine vasopressin-mediated phosphorylation at S-256).
P41181	254	254	R -> Q (in ANDI; exerts a dominant- negative effect on wild-type-AQP2 in that it interferes with its trafficking to the apical membrane; is a loss of function instead of a gain of function mutation on dominant nephrogenic diabetes insipidus).
P41181	258	258	E -> K (in ANDI; retained in the Golgi compartment).
P41181	262	262	P -> L (in ANDI; mutant protein folds properly and is functional but is retained in intracellular vesicles and does not localize to the ER; upon coexpression with wild-type AQP2 mutant protein interacts with wild-type AQP2 and the resulting heterotetramer properly localizes to the apical membrane).
Q92482	43	43	V -> M (in dbSNP:rs34942735).
P55088	4	4	G -> R.
Q13520	234	234	V -> I (in dbSNP:rs17124220).
O14520	38	38	L -> V (in dbSNP:rs2381003).
O14520	63	63	K -> T (in dbSNP:rs4008658).
O94778	229	229	I -> M (in a breast cancer sample; somatic mutation).
O94778	260	260	A -> P (in dbSNP:rs2287798).
O43315	279	279	A -> T (in dbSNP:rs1867380).
P0CD89	141	141	P -> S (in strain: Chevalieri / ATCC 10604).
Q3SXY8	79	79	R -> Q (in JBTS8; reduces binding to GTP).
Q3SXY8	200	200	R -> C (in JBTS8).
Q3SXY8	348	348	T -> S (in dbSNP:rs33944211).
Q6NSI1	265	265	T -> K (in dbSNP:rs1436436).
Q9Y2Y0	87	87	E -> K (in dbSNP:rs7198865).
Q42460	252	261	Missing (in C-terminal processing variant).
Q42460	253	261	Missing (in C-terminal processing variant).
Q42460	254	261	Missing (in C-terminal processing variant).
Q42460	255	261	Missing (in C-terminal processing variant).
Q66PJ3	88	88	P -> A (in dbSNP:rs12825243).
Q66PJ3	225	225	K -> R (in RNA edited version; dbSNP:rs3178165).
P08203	50	50	V -> I.
P08203	70	70	T -> A.
P08203	216	216	D -> N.
P10398	98	98	M -> T (in dbSNP:rs56197559).
P10398	331	331	G -> C (in a colorectal adenocarcinoma sample; somatic mutation).
P10398	578	578	E -> D (in dbSNP:rs55852926).
Q96L71	358	358	R -> Q (in dbSNP:rs34976830).
Q96L71	1047	1047	Q -> E (in dbSNP:rs56200889).
Q8WZ64	384	384	K -> N (in dbSNP:rs35468501).
Q8WZ64	1006	1006	F -> L (in dbSNP:rs35218548).
Q8WZ64	1523	1523	Q -> R (in dbSNP:rs4833069).
Q8WWN8	218	218	D -> H (in dbSNP:rs1031904).
Q8WWN8	471	471	R -> W (in a colorectal cancer sample; somatic mutation).
Q8WWN8	1085	1085	I -> M (in a breast cancer sample; somatic mutation).
Q8WWN8	1428	1428	T -> P (in a breast cancer sample; somatic mutation).
P25098	184	184	I -> T (in dbSNP:rs55696045).
P25098	578	578	R -> Q (in a colorectal adenocarcinoma sample; somatic mutation).
P35626	50	50	R -> S (in dbSNP:rs55700971).
P35626	60	60	N -> S (in dbSNP:rs55740593).
P35626	104	104	R -> K (in a lung bronchoalveolar carcinoma sample; somatic mutation).
P35626	409	409	V -> M (in dbSNP:rs2272859).
O15143	37	37	K -> N (in dbSNP:rs1045012).
P15514	80	80	D -> V.
P15514	81	81	Y -> C.
P18085	68	68	V -> A (in dbSNP:rs11550597).
P93024	439	439	Y -> F (in strain; cv. Ag-0).
P93024	526	526	M -> T (in strain: cv. Cvi-1).
P93024	539	542	Missing (in strain: cv. Kas-1).
P93024	796	796	T -> I.
Q9ZTX8	838	838	D -> N (in strain: cv. Nd-1).
Q8N6T3	184	184	V -> M (in dbSNP:rs2273499).
Q8N6H7	143	143	P -> R (in dbSNP:rs11542793).
Q8N6H7	339	339	R -> H (in dbSNP:rs34662994).
Q8N6H7	406	406	R -> W (in dbSNP:rs35950498).
Q8N6H7	411	411	S -> N (in dbSNP:rs3740691).
Q9NP61	231	231	S -> G (in dbSNP:rs9607957).
Q9NP61	290	290	E -> G (in a breast cancer sample; somatic mutation).
Q9NP61	355	355	S -> R (in dbSNP:rs1018448).
Q9NP61	370	370	S -> G (in dbSNP:rs16986123).
Q9NP61	468	468	Q -> H (in dbSNP:rs35498349).
Q9NP61	482	482	A -> T (in dbSNP:rs36003980).
Q9NP61	490	490	Q -> R (in dbSNP:rs11551619).
Q9SKN5	411	411	H -> D (in strain: cv. Ag-0, cv. Bay-0, cv. Br-0, cv. C24, cv. Ct-1, cv. CVi-0, cv. Edi-0, cv. Ei-2, cv. Ga-0, cv. Gy-0, cv. Kas-2, cv. Ll-0, cv. Mrk-0, cv. Ms-0, cv. Mt-0, cv. Nd-1, cv. Nok-3, cv. Oy-0, cv. Sorbo, cv. Wassilewskija, cv. Wei-0 and cv. Wt-5).
Q9SKN5	473	473	G -> S (in strain: cv. Nd-1).
Q9SKN5	475	475	Missing (in strain: cv. Bay-0, cv. Ga-0, cv. Ms-0 and cv. Oy-0).
Q93YR9	477	477	Missing (in strain: cv. Ag-0, cv. An-1, cv. Bay-0, cv. Br-0, cv. Cvi-0, cv. Edi- 0, cv. Gy-0, cv. Kas-2, cv. Oy-0 and cv. Sorbo).
Q84WU6	414	414	Y -> F (in strain: cv. Ag-0, cv. An-1, cv. Cvi-0, cv. Edi-0, cv. Kas-2, cv. Ll- 0, cv. Nok-3, cv. Wassilewskija, cv. Wei- 0 and cv. Wt-5).
Q84WU6	518	518	S -> P (in strain: cv. Ag-0, cv. An-1, cv. Cvi-0, cv. Edi-0, cv. Ei-2, cv. Gy-2, cv. Kas-2, cv. Ll-0, cv. Mt-0, cv. Nok-3, cv. Wassilewskija, cv. Wei-0 and cv. Wt- 5).
Q13795	108	108	L -> V (in a breast cancer sample; somatic mutation).
P31318	261	261	V -> D (in strain: 975).
P31318	345	345	G -> P (in strain: 975).
Q8NAV5	47	47	S -> N (in dbSNP:rs34417109).
Q8NAV5	69	69	D -> N (in dbSNP:rs35497285).
Q8NAV5	96	96	A -> V (in a colorectal cancer sample; somatic mutation).
Q8NAV5	991	991	R -> W (in dbSNP:rs6695710).
Q8NAV5	1219	1219	V -> I (in dbSNP:rs2270976).
A6NJG6	145	145	R -> Q (in dbSNP:rs9813391).
P05089	11	11	I -> T (in ARGIN; 12% of wild-type activity; dbSNP:rs28941474).
P05089	138	138	G -> V (in ARGIN).
P05089	235	235	G -> R (in ARGIN).
P05089	290	290	T -> S (could be a polymorphism).
P78540	240	240	G -> R (in dbSNP:rs17104534).
P27254	68	68	S -> R (in strain: RC101).
P27254	154	154	T -> A (in strain: RC101).
Q7CEX2	9	9	Q -> R (in strain: SSI-1 / Serotype M3).
A1IGU5	421	421	M -> L (in dbSNP:rs4629585).
A1IGU5	489	489	P -> L (in dbSNP:rs9324624).
A1IGU5	518	518	S -> R (in dbSNP:rs7732714).
A1IGU5	586	586	P -> T (in dbSNP:rs3733662).
A1IGU5	604	604	M -> V (in dbSNP:rs1135093).
Q9NXL2	67	67	K -> N (in a breast cancer sample; somatic mutation).
Q9NXL2	88	88	M -> V (in dbSNP:rs2276970).
Q92888	165	165	M -> V (in a colorectal cancer sample; somatic mutation).
Q92888	375	375	P -> L (in dbSNP:rs2303797).
Q7Z5T2	13	13	K -> R (in dbSNP:rs3732507).
Q7Z5T2	335	335	L -> V (in dbSNP:rs3772219).
Q9NR80	33	33	D -> H (in dbSNP:rs10188052).
Q9NR80	100	100	K -> R (in a breast cancer sample; somatic mutation).
Q9NR80	441	441	T -> R (in a breast cancer sample; somatic mutation).
Q15052	297	297	Q -> H (in dbSNP:rs5974620).
Q7Z628	202	202	D -> N (in a breast cancer sample; somatic mutation).
Q7Z628	417	417	T -> I (in dbSNP:rs34658946).
O43307	55	55	G -> A (in STHEE; affects dendritic gephrin clustering and trafficking of GABA-A receptors to synapses).
O15013	357	357	T -> I (in SNCV).
O15013	700	700	V -> I (in dbSNP:rs2294039).
O15013	725	725	V -> I (in dbSNP:rs2294039).
O15085	1416	1416	S -> G (in dbSNP:rs868188).
O15085	1427	1427	H -> R (in dbSNP:rs945508).
Q9NZN5	973	973	Y -> F (in dbSNP:rs2305013).
O94989	73	73	P -> S (in dbSNP:rs9890841).
O94989	155	155	G -> V (in dbSNP:rs17857129).
O94989	277	277	L -> P (in dbSNP:rs871841).
O94989	831	831	S -> P (in dbSNP:rs3744647).
Q5VV41	137	137	V -> M (in dbSNP:rs3806164).
Q5VV41	370	370	H -> Y (in dbSNP:rs2185639).
Q5VV41	681	681	E -> K (in dbSNP:rs56309807).
Q96PE2	450	450	G -> E (in dbSNP:rs3741150).
Q96PE2	1465	1465	A -> D (in dbSNP:rs2298808).
Q6ZSZ5	701	701	Q -> R (in dbSNP:rs2287918).
Q6ZSZ5	752	752	R -> Q (in dbSNP:rs2287920).
Q6ZSZ5	1019	1019	N -> S (in dbSNP:rs9329368).
Q8IW93	163	163	G -> R (in dbSNP:rs221058).
Q8IW93	238	238	E -> Q (in dbSNP:rs221057).
Q8NDY3	7	7	A -> V (in dbSNP:rs9577273).
Q9NX46	209	209	E -> K (in dbSNP:rs2236387).
Q5SW96	202	202	S -> H (in ARH; Lebanon; requires 2 nucleotide substitutions).
Q5SW96	202	202	S -> P (in dbSNP:rs6687605).
Q8NFD5	814	814	G -> A (in a breast cancer sample; somatic mutation).
O95376	24	24	E -> K (in dbSNP:rs11507).
O95376	29	29	E -> D (in dbSNP:rs34221642).
Q99856	36	36	P -> H (in dbSNP:rs17857499).
Q99856	320	320	K -> E (in dbSNP:rs17857501).
Q99856	556	556	G -> S (in dbSNP:rs1051505).
A6NKF2	310	310	R -> Q (in dbSNP:rs12337871).
A6NKF2	335	335	C -> G (in dbSNP:rs3808869).
P29374	412	412	H -> P (in dbSNP:rs34982206).
P29374	724	724	N -> S (in dbSNP:rs2230098).
P29374	779	779	T -> A (in dbSNP:rs1051858).
Q8W468	138	138	D -> E (in strain: cv. Lisse-2).
Q9Y4B4	1369	1369	F -> L (in dbSNP:rs35712917).
O43488	135	135	V -> M (in dbSNP:rs6670759).
O43488	142	142	A -> T (in dbSNP:rs1043657).
O43488	157	157	Q -> H (in dbSNP:rs859208).
O43488	180	180	E -> K (in dbSNP:rs859210).
O43488	198	198	G -> S (in dbSNP:rs2231200).
O43488	214	214	C -> Y (in dbSNP:rs2235794).
O43488	255	255	S -> N (in dbSNP:rs2231203).
O95154	138	138	V -> M (in dbSNP:rs2231198).
O95154	215	215	N -> D (in dbSNP:rs1738023).
O95154	323	323	T -> A (in dbSNP:rs1738025).
Q8NHP1	255	255	A -> T (in dbSNP:rs2235795).
Q8NHP1	322	322	F -> V (in dbSNP:rs2982534).
Q969Q4	22	22	S -> L.
Q969Q4	120	120	L -> M (in dbSNP:rs35712316).
Q969Q4	131	131	P -> L.
Q969Q4	148	148	C -> R (in dbSNP:rs3803185).
Q969Q4	164	164	E -> K.
Q8N4G2	83	83	D -> N (in dbSNP:rs35634980).
Q8N4G2	117	117	P -> T (in dbSNP:rs35633732).
Q0P5N6	10	10	S -> R (in dbSNP:rs8066889).
Q8IVW1	170	170	L -> I.
P36404	141	141	V -> A (in dbSNP:rs664226).
P36405	34	34	L -> M (in dbSNP:rs1141895).
P40617	139	139	R -> K (in dbSNP:rs2953325).
P49703	91	91	T -> N (in dbSNP:rs1059968).
Q9H0F7	31	31	T -> M (in BBS3).
Q9H0F7	31	31	T -> R (in BBS3).
Q9H0F7	169	169	G -> A (in BBS3).
Q9H0F7	170	170	L -> W (in BBS3).
P02521	345	345	V -> A.
P04424	31	31	D -> N (in ARGINSA).
P04424	95	95	R -> C (in ARGINSA; dbSNP:rs28940585).
P04424	111	111	R -> W (in ARGINSA).
P04424	113	113	R -> Q (in ARGINSA).
P04424	178	178	V -> M (in ARGINSA; dbSNP:rs28941473).
P04424	181	181	T -> S (in a breast cancer sample; somatic mutation).
P04424	186	186	R -> Q (in ARGINSA).
P04424	193	193	R -> Q (in ARGINSA).
P04424	200	200	G -> V (in a breast cancer sample; somatic mutation).
P04424	236	236	R -> W (in ARGINSA).
P04424	286	286	Q -> R (in ARGINSA; dbSNP:rs28941472).
P04424	335	335	V -> L (in ARGINSA).
P04424	379	379	R -> C (in ARGINSA; dbSNP:rs28940287).
P04424	382	382	M -> R (in ARGINSA).
P04424	385	385	R -> C (in ARGINSA; dbSNP:rs28940286).
P04424	456	456	R -> W (in ARGINSA).
P20673	129	129	Y -> C.
P20673	301	301	R -> G.
Q9BTM6	190	190	P -> S (in dbSNP:rs17849774).
Q8NEN0	166	166	M -> T (in dbSNP:rs9386758).
Q8NEN0	433	433	N -> D (in dbSNP:rs17852775).
Q96M49	345	345	E -> G (in dbSNP:rs16922864).
Q96M49	608	608	S -> P (in dbSNP:rs11013233).
Q96M49	626	626	R -> Q (in dbSNP:rs10828395).
Q5T2S8	343	343	I -> T (in dbSNP:rs4405206).
Q5T2S8	935	935	N -> K (in dbSNP:rs35181927).
Q5T2S8	1041	1041	A -> S (in dbSNP:rs3737184).
Q96C12	170	170	I -> V (in dbSNP:rs35923277).
Q7Z3E5	108	108	L -> F (in dbSNP:rs11558175).
Q7Z3E5	180	180	I -> V (in dbSNP:rs1626450).
Q7Z3E5	209	209	I -> T (in dbSNP:rs16827883).
Q7Z3E5	222	222	R -> H (in dbSNP:rs3752780).
P0C7Q2	3	3	R -> H (in dbSNP:rs10490923).
P0C7Q2	69	69	A -> S (in dbSNP:rs10490924).
Q5H9R4	188	188	R -> G (in dbSNP:rs5951332).
Q9HBZ2	679	679	G -> S (in dbSNP:rs4072568).
P27540	430	430	R -> Q (in dbSNP:rs2229175).
P27540	435	435	E -> K (in dbSNP:rs2229176).
P27540	511	511	D -> N (in dbSNP:rs1805133).
P27540	517	517	D -> E (in dbSNP:rs10305741).
P27540	706	706	P -> L (in dbSNP:rs2275237).
P0A6D3	96	96	G -> A (confers glyphosate inhibition).
P07637	101	101	P -> S (confers glyphosate inhibition).
P95361	85	85	A -> V (in strain: FA19).
P95361	216	216	R -> G (in strain: FA19).
Q86WX3	124	124	E -> A (in dbSNP:rs17001278).
Q8C6B9	116	116	Missing.
Q9P1U1	250	250	R -> Q (in dbSNP:rs2260545).
Q4V7C7	111	111	L -> F.
Q5AC48	129	129	D -> F (in allele CaO19.13069).
Q5AC48	132	132	R -> S (in allele CaO19.13069).
Q5AC48	136	136	I -> L (in allele CaO19.13069).
Q5AC48	143	143	A -> V (in allele CaO19.13069).
Q5AC48	163	163	L -> S (in allele CaO19.13069).
Q5AC48	346	346	Missing (in allele CaO19.13069).
Q9H9F9	298	298	R -> L (in dbSNP:rs17853829).
Q9H9F9	461	461	I -> L (in dbSNP:rs35805905).
Q9H9F9	483	483	I -> V (in dbSNP:rs2245231).
Q9H9F9	580	580	P -> L (in dbSNP:rs3752289).
Q8LKR0	230	231	RL -> PP (in strain: cv. Lip-0).
Q8LKR0	231	231	L -> P (in strain: cv. Aa-0).
Q8LKR0	248	248	G -> S (in strain: cv. Goe-2).
Q8LKR0	250	250	T -> R (in strain: cv. Ri-0).
Q8LKR0	253	253	K -> E (in strain: cv. Gre-0 and cv. Kas- 1).
Q8LKR0	263	263	K -> R (in strain: cv. Di-0 and cv. Kil- 0).
Q8LKR0	271	271	K -> E (in strain: cv. Cl-0).
Q8LKR0	280	280	V -> D (in strain: cv. Yo-0).
Q8LKR0	290	290	K -> E (in strain: cv. Kil-0).
Q8LKR0	301	301	L -> I (in strain: cv. Yo-0).
Q8LKR0	308	311	QPAD -> SLQI (in strain: cv. Ba-1).
Q8LKR0	310	310	A -> S (in strain: cv. En-2).
Q8LKR0	311	311	D -> V (in strain: cv. Oy-0).
Q9H981	56	56	T -> I (in dbSNP:rs3733082).
Q9BYD9	234	234	E -> K (in dbSNP:rs2068178).
P19107	109	109	N -> S.
P36575	44	44	L -> F (in dbSNP:rs17855428).
Q8N5I2	363	363	G -> C (in dbSNP:rs35018943).
Q8TBH0	181	181	R -> H (in dbSNP:rs17852061).
Q8TBH0	192	192	R -> H (in dbSNP:rs17852062).
Q8TBH0	244	244	A -> T (in dbSNP:rs8110271).
Q8TBH0	396	396	L -> P (in dbSNP:rs7259041).
Q8NCT1	79	79	T -> A (in dbSNP:rs12101554).
Q8NCT1	347	347	P -> S (in dbSNP:rs17856817).
Q8NCT1	358	358	S -> P (in dbSNP:rs2130882).
Q28281	14	14	H -> C (requires 2 nucleotide substitutions).
Q28281	101	101	A -> V.
Q28281	103	103	A -> T.
Q28281	257	257	D -> Y.
Q28281	377	377	A -> E.
P10523	76	76	I -> V (in dbSNP:rs7565275).
P10523	84	84	R -> C.
P10523	125	125	T -> M.
P10523	364	364	P -> L.
P10523	378	378	V -> I.
P10523	384	384	R -> C.
P10523	403	403	V -> A (in dbSNP:rs1046976).
P10523	403	403	V -> I (in dbSNP:rs1046974).
P15289	18	18	A -> D (in MLD; enzyme activity reduced to 5% of wild-type enzyme).
P15289	29	29	D -> N (in MLD; infantile-onset; causes a severe reduction of enzyme activity).
P15289	30	30	D -> H (in MLD; enzyme activity reduced to 2.4% of wild-type enzyme).
P15289	32	32	G -> S (in MLD; late-infantile form).
P15289	68	68	L -> P (in MLD; late-infantile form).
P15289	76	76	L -> P.
P15289	82	82	P -> L (in MLD; late-infantile-onset; dbSNP:rs6151411).
P15289	84	84	R -> Q (in MLD; mild).
P15289	84	84	R -> W (in MLD; juvenile form).
P15289	86	86	G -> D (in MLD; severe; no enzyme residual activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment).
P15289	94	94	P -> A (in MLD; adult form).
P15289	95	95	S -> N (in MLD).
P15289	96	96	S -> F (in MLD; severe).
P15289	96	96	S -> L (in MLD; severe; no enzyme residual activity).
P15289	99	99	G -> D (in MLD; adult type).
P15289	99	99	G -> V (in MLD; late-infantile form).
P15289	119	119	G -> R (in MLD; juvenile-onset).
P15289	122	122	G -> S (in MLD; adult type).
P15289	135	135	L -> P (in MLD).
P15289	136	136	P -> L (in MLD; severe late-infantile type; loss of enzymatic activity).
P15289	136	136	P -> S (in MLD; late-infantile form).
P15289	137	137	Missing (in MLD).
P15289	143	143	R -> G (in MLD; juvenile/adult-onset; generates 5% as much activity as the parallel normal control).
P15289	148	148	P -> L (in MLD; juvenile-onset).
P15289	152	152	D -> Y (in MLD).
P15289	153	153	Q -> H (in MLD; late-infantile form; no enzyme residual activity).
P15289	154	154	G -> D (in MLD).
P15289	155	155	P -> L (in MLD; juvenile-onset).
P15289	155	155	P -> R (in MLD).
P15289	156	156	C -> R (in MLD; adult type; enzyme activity reduced to 50% of wild-type enzyme).
P15289	167	167	P -> R (in MLD).
P15289	169	169	D -> N (in MLD).
P15289	172	172	C -> Y (in MLD; juvenile-onset).
P15289	179	179	I -> S (in MLD; mild).
P15289	181	181	L -> Q (in MLD; infantile form).
P15289	190	190	Q -> H (in MLD; no enzyme residual activity).
P15289	191	191	P -> T (in MLD; juvenile-onset).
P15289	193	193	W -> C (in dbSNP:rs6151415).
P15289	201	201	Y -> C (in MLD; juvenile-onset; low amounts of residual enzyme activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment).
P15289	212	212	A -> P (in MLD; enzyme activity reduced to 2.6% of wild-type enzyme).
P15289	212	212	A -> V (in MLD).
P15289	217	217	R -> H (in MLD; enzyme activity reduced to 15.6% of wild-type enzyme).
P15289	219	219	F -> V (in MLD; enzyme activity reduced to less than 1% of normal activity).
P15289	224	224	A -> V (in MLD).
P15289	227	227	H -> Y (in MLD; late-infantile form).
P15289	231	231	P -> T (in MLD).
P15289	244	244	R -> C (in MLD; juvenile-onset).
P15289	244	244	R -> H (in MLD; infantile-onset).
P15289	245	245	G -> R (in MLD; severe; represents 20% of all alleles among Australians and about 85% of all Australians Lebanese alleles).
P15289	247	247	F -> S (in MLD).
P15289	250	250	S -> Y (in MLD; infantile-onset).
P15289	253	253	E -> K (in MLD; late-infantile).
P15289	255	255	D -> H (in MLD; late-infantile form; no enzyme residual activity; leads to a decreased stability of the mutant enzyme; causes an arrest of the mutant enzyme polypeptide in a prelysosomal compartment).
P15289	274	274	T -> M (in MLD; severe; 35% of normal activity).
P15289	281	281	D -> Y (in MLD).
P15289	282	282	N -> S (in MLD; enzyme activity reduced to 0.6% of wild-type enzyme).
P15289	286	286	T -> P (in MLD; adult type; dbSNP:rs28940894).
P15289	288	288	R -> C (in MLD).
P15289	288	288	R -> H (in MLD; adult form).
P15289	293	293	G -> D (in MLD; late-onset).
P15289	293	293	G -> S (in MLD; adult type; causes a severe reduction of enzyme activity).
P15289	294	294	C -> Y (in MLD; juvenile-onset; causes a severe reduction of enzyme activity).
P15289	295	295	S -> Y (in MLD; severe).
P15289	298	298	L -> S (in MLD; late-infantile form; complete loss of enzyme activity).
P15289	300	300	C -> F (in MLD; late-infantile-onset; enzyme activity reduced to less than 1%; the mutant protein is unstable; results in more rapid enzyme degradation in lysosomes; addition of the cysteine protease inhibitor leupeptin does not increase the amount of the enzyme activity; strongly interferes with the octamerization process of the enzyme at low pH).
P15289	302	302	K -> N (in MLD; enzyme activity reduced to 2.8% of wild-type enzyme).
P15289	306	306	Y -> H (in MLD; juvenile-onset).
P15289	308	308	G -> D (in MLD; late-infantile form).
P15289	308	308	G -> V (in MLD; late-infantile form; no enzyme residual activity).
P15289	309	309	G -> S (in MLD; severe; 13% of normal activity).
P15289	311	311	R -> Q (in MLD; juvenile-onset).
P15289	312	312	E -> D (in MLD; low amounts of residual enzyme activity; leads to a decreased stability of the mutant enzyme).
P15289	314	314	A -> T (in MLD; infantile-onset).
P15289	325	325	G -> S (in MLD; juvenile-onset).
P15289	327	327	T -> I (in MLD; late-infantile form).
P15289	335	335	D -> V (in MLD; late-infantile-onset; loss of enzymatic activity).
P15289	350	350	N -> S (associated with arylsulfatase A pseudodeficiency; appeares to be responsible for the small size of the enzyme produced by pseudodeficiency fibroblasts because it leads to loss of an N-glycosylation site; dbSNP:rs2071421).
P15289	356	356	F -> V (in dbSNP:rs6151422).
P15289	367	367	K -> N (in MLD).
P15289	370	370	R -> Q (in MLD; mild).
P15289	370	370	R -> W (in MLD; severe; no enzyme residual activity).
P15289	376	376	Y -> N (in MLD; enzyme activity reduced to 4.7% of wild-type enzyme).
P15289	377	377	P -> L (in MLD; severe; high frequency among Habbanite Jews).
P15289	381	381	D -> E (in MLD; early-infantile form).
P15289	382	382	E -> K (in MLD; intermediate).
P15289	384	384	R -> C (in MLD).
P15289	390	390	R -> Q (in MLD; juvenile-onset).
P15289	390	390	R -> W (in MLD; late-infantile and juvenile-onset).
P15289	391	391	T -> S (in dbSNP:rs743616).
P15289	397	397	H -> Y (in MLD; adult-onset).
P15289	398	398	Missing (in MLD).
P15289	406	408	Missing (in MLD; late-infantile-onset).
P15289	408	408	T -> I (in MLD; adult type; dbSNP:rs28940895).
P15289	409	409	T -> I (in MLD; mild).
P15289	425	425	P -> T (in MLD; juvenile-onset; retains about 12% of specific enzyme activity; the mutant protein is unstable; results in more rapid enzyme degradation in lysosomes; addition of the cysteine protease inhibitor leupeptin increases the amount of the enzyme activity; displays a modest reduction in the octamerization process of the enzyme at low pH).
P15289	426	426	P -> L (in MLD; juvenile/adult-onset; mild; common mutation; dbSNP:rs28940893).
P15289	428	428	L -> P (in MLD; late-infantile form).
P15289	429	429	Y -> S (in MLD; adult-onset).
P15289	440	440	N -> S (in dbSNP:rs6151427).
P15289	464	464	A -> V.
P15289	469	469	A -> G (in MLD; early-infantile form).
P15289	489	489	C -> G (in MLD; late-onset).
P15289	496	496	R -> H (in dbSNP:rs6151428).
P15848	65	65	S -> F (in MPS6; intermediate form).
P15848	86	86	Missing (in MPS6; severe form; low protein levels and activity).
P15848	92	92	T -> M (in MPS6; mild form).
P15848	95	95	R -> Q (in MPS6; mild/severe form).
P15848	116	116	P -> H (in MPS6; severe form).
P15848	117	117	C -> R (in MPS6; severe form).
P15848	137	137	G -> V (in MPS6; intermediate form).
P15848	142	142	M -> I (in MPS6).
P15848	144	144	G -> R (in MPS6; severe form; severe reduction of activity).
P15848	146	146	W -> L (in MPS6).
P15848	146	146	W -> R (in MPS6).
P15848	146	146	W -> S (in MPS6).
P15848	152	152	R -> W (in MPS6; intermediate form).
P15848	160	160	R -> Q (in MPS6; intermediate form).
P15848	192	192	C -> R (in MPS6; mild form; severe reduction of activity).
P15848	210	210	Y -> C (in MPS6; mild/intermediate).
P15848	236	236	L -> P (in MPS6; mild form).
P15848	239	239	Q -> R (in MPS6).
P15848	302	302	G -> R (in MPS6; severe form).
P15848	312	312	W -> C (in MPS6; severe form; low protein levels and activity).
P15848	315	315	R -> Q (in MPS6; intermediate form).
P15848	321	321	L -> P (in MPS6; intermediate form; severe reduction of activity).
P15848	358	358	V -> L (in dbSNP:rs1065757).
P15848	358	358	V -> M (in dbSNP:rs1065757).
P15848	376	376	V -> M (in dbSNP:rs17220759).
P15848	384	384	S -> N (in MPS6; dbSNP:rs25414).
P15848	393	393	H -> P (in MPS6; mild/severe form).
P15848	399	399	F -> L (in MPS6).
P15848	405	405	C -> Y (in MPS6; mild form).
P15848	484	484	R -> G (in MPS6).
P15848	498	498	L -> P (in MPS6; mild/severe form).
P15848	521	521	C -> Y (in MPS6; severe form; severe reduction of activity).
P15848	531	531	P -> R (in MPS6; mild form).
P0A006	2	2	D -> T (in strain: SW18, SW4, SW24 and SW1).
P0A006	24	33	GKEILGEGWN -> AKQILAKDWD (in strain: SW18).
P0A006	24	31	GKEILGEG -> AKQILADD (in strain: SW24 and SW1).
P0A006	24	31	GKEILGEG -> AKQILAED (in strain: SW4).
P0A006	56	56	D -> G (in strain: SW18, SW4, SW24 and SW1).
P0A006	65	65	D -> N (in strain: SW24 and SW1).
P0A006	70	76	DILKQSD -> NIIKNSN (in strain: SW18, SW4, SW24 and SW1).
P0A006	87	87	N -> V (in strain: SW18, SW4, SW24 and SW1).
P0A006	91	91	I -> S (in strain: SW4, SW24 and SW1).
P0A006	91	91	I -> T (in strain: SW18).
P0A006	94	94	P -> T (in strain: SW18, SW4, SW24 and SW1).
P0A006	110	110	E -> P (in strain: SW18, SW4, SW24 and SW1).
P0A006	123	123	L -> I (in strain: SW4, SW24 and SW1).
P0A006	123	123	L -> V (in strain: SW18).
P0A006	127	127	K -> N (in strain: SW18, SW4, SW24 and SW1).
P0A006	130	130	L -> S (in strain: SW18, SW4, SW24 and SW1).
P51689	224	224	S -> C (in dbSNP:rs211653).
P51689	500	500	V -> I (in dbSNP:rs2229557).
P51689	564	564	M -> T (in dbSNP:rs2228431).
P51690	12	12	R -> S (in CDPX1).
P51690	80	80	I -> N (in CDPX1).
P51690	111	111	R -> P (in CDPX1).
P51690	117	117	G -> R (in CDPX1).
P51690	137	137	G -> V (in CDPX1).
P51690	183	183	R -> H (in dbSNP:rs34412194).
P51690	245	245	G -> R (in CDPX1).
P51690	424	424	G -> S (in dbSNP:rs35143646).
P51690	481	481	T -> M (in CDPX1).
P51690	492	492	C -> Y (in CDPX1).
P51690	578	578	P -> S (in CDPX1; dbSNP:rs28935474).
P54793	527	527	H -> Y (in dbSNP:rs1052638).
Q96EG1	11	11	A -> V (in dbSNP:rs8074806).
Q96EG1	236	236	T -> S (in dbSNP:rs1558876).
Q96EG1	274	274	W -> R (in dbSNP:rs1558878).
Q96EG1	385	385	R -> H (in dbSNP:rs9972951).
Q5FYB0	565	565	S -> R (in dbSNP:rs17046588).
Q6UWY0	525	525	Q -> R (in dbSNP:rs17084927).
P17720	7	7	N -> K.
P17720	8	8	I -> V.
P17720	223	223	V -> M.
Q5T4W7	19	19	Q -> R (in dbSNP:rs2242637).
Q9H5V6	101	101	G -> E (in dbSNP:rs35764859).
O00192	175	175	V -> A (in dbSNP:rs2240717).
O00192	220	220	P -> L (in dbSNP:rs2073748).
O00192	539	539	R -> Q (in dbSNP:rs16982871).
O00192	906	906	R -> Q (in dbSNP:rs165815).
O00192	909	909	R -> Q (in dbSNP:rs34638476).
O00192	909	909	R -> W (in dbSNP:rs34687532).
O00192	912	912	R -> W (in dbSNP:rs34445280).
Q96QS3	33	33	L -> P (in MRX54; dbSNP:rs28936077).
Q96QS3	115	115	A -> AAAAAAAA (in EIEE1).
Q96QS3	155	155	A -> AAAAAAAAA (in EIEE1 and PRTS; also found in non-specific mental retardation families; frequent mutation).
Q96QS3	286	286	G -> S (in MRX54; dbSNP:rs28935479).
Q96QS3	332	332	R -> H (in LISX2; dbSNP:rs28936075).
Q96QS3	332	332	R -> P (in LISX2).
Q96QS3	333	333	T -> N (in ACCAG; dbSNP:rs28936078).
Q96QS3	343	343	L -> Q (in LISX2; dbSNP:rs28936076).
Q96QS3	353	353	P -> L (in EIEE1; dbSNP:rs28936074).
Q96QS3	353	353	P -> R (in LISX2).
Q96QS3	521	521	A -> T (in LISX2; severe phenotype).
P18440	64	64	R -> W (in allele NAT1*17; a slow acetylator; has defective enzyme activity; dbSNP:rs56379106).
P18440	117	117	R -> T (in allele NAT1*5; dbSNP:rs55641436).
P18440	149	149	V -> I (in allele NAT1*11; catalyzes the N-acetylation of aromatic amines and the O- and N,O-acetylation of their N- hydroxylated metabolites at rates up to 2-fold higher; dbSNP:rs4987076).
P18440	166	167	RE -> TQ (in allele NAT1*5).
P18440	187	187	R -> Q (in allele NAT1*14; a slow acetylator; dbSNP:rs4986782).
P18440	205	205	M -> V (in allele NAT1*21).
P18440	207	207	T -> I (in dbSNP:rs4987195).
P18440	214	214	S -> A (in allele NAT1*11; dbSNP:rs4986783).
P18440	251	251	D -> V (in allele NAT1*22; dbSNP:rs56172717).
P18440	261	261	E -> K (in allele NAT1*24).
P18440	263	263	I -> V (in allele NAT1*25).
Q96KY8	24	24	L -> I (in dbSNP:rs45477599).
Q96KY8	64	64	R -> Q (in allele NAT2*14A, allele NAT2*14B, allele NAT2*14C, allele NAT2*14D, allele NAT2*14E, allele NAT2*14F and allele NAT2*14G; a slow acetylator; dbSNP:rs1801279).
Q96KY8	64	64	R -> W (in allele NAT2*19; dbSNP:rs1805158).
Q96KY8	114	114	I -> T (in allele NAT2*5A, allele NAT2*5B, allele NAT2*5C, allele NAT2*5D, allele NAT2*5E, allele NAT2*5F, allele NAT2*14B and allele NAT2*14E; a slow acetylator; dbSNP:rs1801280).
Q96KY8	122	122	D -> N (in dbSNP:rs4986996).
Q96KY8	135	135	L -> V (in dbSNP:rs12720065).
Q96KY8	137	137	L -> F (in dbSNP:rs4986997).
Q96KY8	145	145	Q -> P (in allele NAT2*17).
Q96KY8	193	193	T -> M.
Q96KY8	197	197	R -> Q (in allele NAT2*5E, allele NAT2*6A, allele NAT2*6B, allele NAT2*6C, allele NAT2*6D and allele NAT2*14D; a slow acetylator; dbSNP:rs1799930).
Q96KY8	208	208	Y -> H (in dbSNP:rs56387565).
Q96KY8	228	228	P -> L (in dbSNP:rs45518335).
Q96KY8	268	268	K -> R (in allele NAT2*5B, allele NAT2*5C, allele NAT2*5F, allele NAT2*6C, allele NAT2*12A, allele NAT2*14B, allele NAT2*14C, allele NAT2*14E, allele NAT2*14F and allele NAT2*14G; dbSNP:rs1208).
Q96KY8	280	280	V -> M (in dbSNP:rs56393504).
Q96KY8	282	282	K -> T (in allele NAT2*18; dbSNP:rs56054745).
Q96KY8	286	286	G -> E (in allele NAT2*7A and allele NAT2*7B; a slow acetylator; dbSNP:rs1799931).
Q7YRG5	231	231	V -> I (in allele 2).
P50293	243	290	Missing (in slow isoform).
P50295	99	99	N -> I (in allele NAT2*9; slow/unstable isoform).
P50298	121	121	V -> I (in allele NAT2*21; slow acetylator).
P50298	266	266	V -> I (in allele NAT2*21; slow acetylator).
Q9HBK9	173	173	R -> W (rare polymorphism; frequency in African-Americans 0.008; not detected in Caucasian-Americans; enzyme activity is 31% of wild-type; dbSNP:rs35232887).
Q9HBK9	287	287	M -> T (common polymorphism; frequency in African-Americans 0.108 and Caucasian- Americans 0.100; enzyme activity is 350% of wild-type; dbSNP:rs11191439).
Q9HBK9	306	306	T -> I (rare polymorphism; frequency in Caucasian-Americans 0.008; not detected in African-Americans; dbSNP:rs34556438).
Q13510	22	22	Q -> H (in FD).
Q13510	23	23	H -> D (in FD).
Q13510	36	36	Y -> C (in FD).
Q13510	70	70	A -> V (in dbSNP:rs10103355).
Q13510	72	72	V -> M (in dbSNP:rs1071645).
Q13510	88	88	V -> M (in dbSNP:rs1071645).
Q13510	93	93	I -> V (in dbSNP:rs1049874).
Q13510	96	96	Missing (in FD).
Q13510	97	97	V -> E (in FD).
Q13510	124	124	D -> E (in dbSNP:rs2472205).
Q13510	138	138	E -> V (in FD; dbSNP:rs28934273).
Q13510	182	182	L -> V (in FD).
Q13510	222	222	T -> K (in FD).
Q13510	235	235	G -> R (in FD).
Q13510	246	246	V -> A (in dbSNP:rs10103355).
Q13510	254	254	R -> G (in FD).
Q13510	320	320	N -> D (in FD).
Q13510	362	362	P -> R (in FD).
Q13510	369	369	V -> I (in dbSNP:rs17636067).
Q9NR71	51	51	T -> A (in dbSNP:rs7067625).
Q9NR71	346	346	A -> S (in dbSNP:rs993869).
Q9ULH1	728	728	I -> V (in dbSNP:rs966185).
O43150	748	748	E -> D (in dbSNP:rs2715860).
Q8TDY4	377	377	E -> A (in dbSNP:rs16828486).
Q8TDY4	617	617	A -> T (in a colorectal cancer sample; somatic mutation).
Q8WXI3	453	453	R -> C (in dbSNP:rs3800791).
Q8WXH4	249	249	D -> N (in dbSNP:rs34025595).
Q8WXH4	263	263	S -> G (in dbSNP:rs35859007).
Q8WXK1	57	57	P -> L (in dbSNP:rs6962756).
Q8WXK1	357	357	G -> A (in dbSNP:rs4731112).
Q96NS5	240	240	T -> I (in dbSNP:rs7224330).
Q8WXJ9	2	2	S -> N (in dbSNP:rs3795251).
Q8WXJ9	101	101	V -> A (in dbSNP:rs1796814).
Q6ZVZ8	104	104	A -> T (in dbSNP:rs6756597).
Q6ZVZ8	127	127	A -> P (in dbSNP:rs7588748).
Q6ZVZ8	261	261	G -> S (in dbSNP:rs6431437).
Q6ZVZ8	407	407	H -> N (in dbSNP:rs10177957).
Q96Q27	160	160	P -> S (in dbSNP:rs2295213).
Q9Y574	17	17	V -> L (in dbSNP:rs35047380).
Q9M6A3	69	87	RKKINKFKESAWKFVYFLS -> EEDQQIQRVSMEICIFSI C (in allele asc-1).
Q9M6A3	88	306	Missing (in allele asc-1).
Q8N9N2	34	34	D -> N (in dbSNP:rs11558719).
Q9H1I8	96	96	R -> C (in dbSNP:rs1894473).
Q9H1I8	123	123	V -> I (in dbSNP:rs11549795).
Q9H1I8	407	407	D -> H (in dbSNP:rs28265).
Q9H1I8	423	423	P -> S (in dbSNP:rs36571).
Q9H1I8	509	509	R -> Q (in dbSNP:rs4823054).
Q9H1I8	546	546	D -> G (in dbSNP:rs34833047).
Q9H1I8	588	588	E -> K (in dbSNP:rs34062345).
Q9H1I8	639	639	R -> L (in dbSNP:rs6006259).
P50553	158	158	E -> G (in dbSNP:rs1803157).
Q9NQ33	54	54	R -> L (in dbSNP:rs4909951).
Q5KQ21	1	1	M -> MSI (in strain: B-3501A).
P40467	77	77	S -> N (in strain: SK1).
P40467	149	149	N -> S (in strain: SK1).
P40467	353	353	I -> F (in strain: SK1).
P40467	682	682	F -> S (in strain: SK1).
P40467	707	707	S -> F (in strain: SK1).
P40467	770	770	I -> T (in strain: SK1).
P40467	811	811	N -> S (in strain: SK1).
P40467	852	852	D -> NDNNN (in strain: SK1).
P40467	887	887	N -> NN (in strain: SK1).
P40467	926	933	Missing (in strain: SK1).
Q9NR48	1416	1416	S -> P (in dbSNP:rs13373934).
Q9NR48	1771	1771	T -> A (in dbSNP:rs4971053).
Q9UBL3	478	478	S -> F (in dbSNP:rs34167006).
Q9BVC5	185	185	G -> D (in dbSNP:rs28930676).
Q5UK76	96	96	R -> C (in strain: Black German Shepherd).
P42127	13	13	V -> A (in dbSNP:rs2296151).
P42127	61	61	Q -> P (in dbSNP:rs1129414).
A8CEM5	21	21	Y -> C.
Q6ZYM3	68	68	E -> K.
Q92484	16	16	H -> Y (in dbSNP:rs12523814).
Q92484	161	161	P -> S (in dbSNP:rs28385609).
Q92485	381	381	R -> H (in dbSNP:rs34560878).
O95671	458	458	V -> M (in dbSNP:rs4503285).
O95671	541	541	R -> K (in dbSNP:rs1127297).
P17405	36	36	V -> A (in dbSNP:rs1050228).
P17405	49	49	D -> V (in NPDB).
P17405	92	92	C -> W (in NPDB).
P17405	103	103	L -> P (in NPDA and NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity).
P17405	130	130	V -> A (in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains 13% residual enzyme actvity).
P17405	137	137	L -> P (in NPDB).
P17405	157	157	C -> R (in NPDB; seems to be less active).
P17405	166	166	G -> R (in NPDB; also in patients with an intermediate form).
P17405	176	176	I -> N (in NPDB).
P17405	184	184	P -> L (in NPDA/NPDB; intermediate form).
P17405	196	196	A -> P (in NPDB).
P17405	200	200	R -> C (in NPDB).
P17405	225	225	L -> M (in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity).
P17405	225	225	L -> P (in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity).
P17405	228	228	R -> C (in NPDB).
P17405	228	228	R -> H (in NPDA/NPDB; intermediate form).
P17405	232	232	G -> D (in NPDB).
P17405	241	241	A -> V (in NPDA/NPDB; intermediate form).
P17405	242	242	G -> R (in NPDB).
P17405	244	244	W -> C (in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity).
P17405	245	245	G -> S (in NPDA and NPDB).
P17405	246	246	E -> K (in NPDA).
P17405	246	246	E -> Q (in NPDA; 30% residual activity).
P17405	248	248	S -> R (in NPDA and NPDB; also found in patients with an intermediate form).
P17405	251	251	D -> E (in NPDA/NPDB; intermediate form).
P17405	278	278	D -> A (in NPDA/NPDB; intermediate form).
P17405	281	281	A -> T (in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains no enzyme activity).
P17405	289	289	R -> H (in NPDB; also in patients with an intermediate form).
P17405	292	292	Q -> K (in NPDA/NPDB; intermediate form).
P17405	294	294	R -> Q (in NPDA).
P17405	302	302	L -> P (in NPDA; in 23% of NPDA Ashkenazi Jewish patients).
P17405	313	313	Y -> H (in NPDA).
P17405	316	316	V -> E (in dbSNP:rs12575136).
P17405	319	319	H -> Y (in NPDA).
P17405	322	322	T -> I (in dbSNP:rs1050233).
P17405	323	323	P -> A (in NPDB).
P17405	330	330	P -> R (in NPDB).
P17405	341	341	L -> P (in NPDA/NPDB; intermediate form).
P17405	357	357	A -> D (in NPDB).
P17405	367	367	Y -> C (in NPDA).
P17405	371	371	P -> S (in NPDB).
P17405	376	376	R -> H (in NPDB; also found in a patient with an intermediate form).
P17405	376	376	R -> L (in NPDB).
P17405	379	379	S -> P (in NPDB).
P17405	382	382	M -> I (in NPDA).
P17405	383	383	N -> S (in NPDB).
P17405	389	389	N -> T (in NPDA).
P17405	390	390	Missing (in NPDA).
P17405	391	391	W -> G (in NPDB; low sphingomyelin degradation rates).
P17405	413	413	A -> V (in NPDB).
P17405	421	421	H -> R (in NPDA).
P17405	421	421	H -> Y (in NPDB).
P17405	431	431	C -> R (in NPDB).
P17405	432	432	L -> P (in NPDB).
P17405	435	435	W -> C (in NPDB).
P17405	436	436	S -> R (in NPDB).
P17405	446	446	Y -> C (in NPDA).
P17405	450	450	L -> P (in NPDA).
P17405	452	452	A -> V (in NPDB).
P17405	456	456	G -> D (in NPDB).
P17405	463	463	F -> S (in NPDA).
P17405	467	467	Y -> S (in NPDA).
P17405	474	474	R -> W (in NPDB; also in a patient with an intermediate form).
P17405	475	475	P -> L (in NPDA and NPDB).
P17405	480	480	F -> L (in NPDB).
P17405	482	482	A -> E (in NPDA).
P17405	485	485	A -> V (in NPDB).
P17405	486	486	T -> A (in NPDB).
P17405	488	488	Y -> N (in NPDB).
P17405	494	494	G -> S (in NPDB).
P17405	496	496	R -> C (in NPDB).
P17405	496	496	R -> H (in NPDA).
P17405	496	496	R -> L (in NPDA; in 32% of NPDA Ashkenazi Jewish patients).
P17405	505	505	S -> G.
P17405	506	506	G -> R (in dbSNP:rs1050239).
P17405	514	514	H -> Q (in NPDB).
P17405	515	515	E -> V (in NPDB).
P17405	517	517	Y -> C (in NPDA).
P17405	533	533	W -> R (in NPDB; also in patients with an intermediate form).
P17405	537	537	Y -> H (in NPDA).
P17405	549	549	L -> P (in NPDB).
P17405	563	563	D -> Y (in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains 6.8% residual enzyme actvity).
P17405	576	576	K -> N (in NPDB).
P17405	577	577	G -> S (in NPDA; also in patients with an intermediate form).
P17405	592	592	Missing (in NPDA).
P17405	600	600	R -> H (in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains about 10% residual enzyme actvity).
P17405	600	600	R -> P (in NPDB; expresses protein level comparable to wild-type SMPD1 expressing cells; retains very low enzyme activity).
P17405	608	608	Missing (in NPDB; prevalent among NPDB patients from the North African Maghreb region).
O43681	332	332	N -> S (in dbSNP:rs8177499).
Q9NWL6	190	190	R -> G (in dbSNP:rs1437880).
Q9NWL6	434	434	M -> T (in dbSNP:rs35137531).
P08243	210	210	V -> E (in dbSNP:rs1049674).
Q9BZE9	252	252	L -> Q (in dbSNP:rs8074498).
Q9BZE9	318	318	V -> M (in dbSNP:rs34085048).
Q9BZE9	487	487	D -> E (in dbSNP:rs13087).
A6ND91	266	266	Q -> R (in dbSNP:rs12977172).
P11163	26	55	Missing.
P06608	177	177	L -> I (in strain: NCPPB 1125).
P06608	199	199	K -> R (in strain: NCPPB 1125).
P06608	288	288	M -> L (in strain: NCPPB 1125).
P06608	295	295	I -> M (in strain: NCPPB 1125).
P20933	12	12	V -> L (in AGU; could be a polymorphism).
P20933	60	60	G -> D (in AGU; German).
P20933	72	72	S -> P (in AGU; Arab. Specifically prevents the proteolytic activation cleavage of AGA in the endoplasmic reticulum).
P20933	100	100	G -> E (in AGU; Canadian).
P20933	101	101	A -> V (in AGU; Italian).
P20933	135	135	F -> S (in AGU; Canadian).
P20933	149	149	T -> S (in dbSNP:rs2228119).
P20933	161	161	R -> Q (in AGU; Finnish).
P20933	163	163	C -> S (in AGU; Finnish. Most frequent mutation; >98% of Finnish AGU alleles).
P20933	252	252	G -> E (in AGU; Finnish).
P20933	252	252	G -> R (in AGU; Italian).
P20933	257	257	T -> I (in AGU; Finnish).
P20933	302	302	G -> R (in AGU; Turkish).
P20933	306	306	C -> R (in AGU; American white).
P20933	322	322	T -> I (in dbSNP:rs56849061).
Q6ICH7	235	235	N -> S (in dbSNP:rs34902186).
Q12797	354	354	R -> M (in dbSNP:rs6995412).
P62289	464	464	F -> Y.
P62289	1712	1712	R -> H.
P62289	1931	1931	K -> R.
P62289	1974	1974	V -> I.
P62289	2157	2157	T -> M.
P62289	2758	2758	K -> E.
P62289	2765	2765	V -> M.
P62289	2989	2989	T -> S.
P62289	3166	3166	V -> I.
Q9NVS1	313	313	I -> V (in dbSNP:rs12025066).
Q9NVS1	430	430	R -> G (in dbSNP:rs6428388).
Q9NVS1	869	869	T -> S (in dbSNP:rs7551108).
Q9NVS1	1090	1090	S -> F (in dbSNP:rs16841081).
Q9NVS1	2494	2494	Y -> H (in dbSNP:rs964201).
Q9NVS1	2562	2562	S -> G (in dbSNP:rs41310927).
Q9NVS1	2620	2620	Q -> H (in dbSNP:rs12138336).
Q9NVS1	2647	2647	L -> I (in dbSNP:rs3762271).
Q9NVS1	3132	3132	L -> R (in dbSNP:rs36004306).
Q9NVS1	3258	3258	H -> R (in dbSNP:rs7528827).
P62293	1744	1744	V -> F.
P62293	1768	1768	Q -> R.
P62293	2811	2811	C -> Y.
P26436	126	126	G -> R (in dbSNP:rs34788353).
Q8ZE65	39	39	A -> APAPA (in strain: 91001 / Biovar Mediaevalis).
Q8ZE65	39	39	A -> APAPAPAPA (in strain: KIM5 / Biovar Mediaevalis).
P00966	14	14	G -> S (in CTLN1).
P00966	18	18	S -> L (in CTLN1).
P00966	19	19	C -> R (in CTLN1).
P00966	40	40	Q -> L (in CTLN1).
P00966	65	65	S -> I (in dbSNP:rs2229556).
P00966	69	69	V -> A (in CTLN1).
P00966	79	79	S -> P (in CTLN1).
P00966	86	86	R -> C (in CTLN1).
P00966	86	86	R -> H (in CTLN1).
P00966	95	95	R -> S (in CTLN1).
P00966	96	96	P -> H (in CTLN1).
P00966	96	96	P -> S (in CTLN1).
P00966	108	108	R -> L (in CTLN1; dbSNP:rs35269064).
P00966	117	117	G -> D (in CTLN1).
P00966	117	117	G -> S (in CTLN1).
P00966	118	118	A -> T (in CTLN1).
P00966	119	119	T -> I (in CTLN1).
P00966	124	124	D -> N (in CTLN1).
P00966	127	127	R -> Q (in CTLN1).
P00966	127	127	R -> W (in CTLN1; severe clinical course).
P00966	157	157	R -> C (in CTLN1).
P00966	157	157	R -> H (in CTLN1).
P00966	160	160	L -> P (in CTLN1).
P00966	179	179	W -> R (in CTLN1; mild).
P00966	180	180	S -> N (in CTLN1).
P00966	190	190	Y -> D (in CTLN1).
P00966	191	191	E -> K (in CTLN1).
P00966	191	191	E -> Q (in CTLN1).
P00966	192	192	A -> V (in CTLN1).
P00966	202	202	A -> E (in CTLN1).
P00966	206	206	L -> P (in CTLN1).
P00966	263	263	V -> M (in CTLN1; mild clinical course).
P00966	265	265	R -> C (in CTLN1; severe clinical course).
P00966	265	265	R -> H (in CTLN1).
P00966	269	269	V -> M (in CTLN1).
P00966	270	270	E -> Q (in CTLN1).
P00966	272	272	R -> C (in CTLN1).
P00966	277	277	K -> T (in CTLN1).
P00966	279	279	R -> Q (in CTLN1).
P00966	280	280	G -> R (in CTLN1).
P00966	283	283	E -> K (in CTLN1).
P00966	284	284	T -> I (in CTLN1; mild clinical course).
P00966	291	291	Y -> S (in CTLN1).
P00966	296	296	D -> G (in CTLN1).
P00966	302	302	M -> V (in CTLN1).
P00966	304	304	R -> W (in CTLN1).
P00966	307	307	R -> C (in CTLN1).
P00966	310	310	K -> Q (in CTLN1).
P00966	310	310	K -> R (in CTLN1).
P00966	324	324	G -> S (in CTLN1).
P00966	324	324	G -> V (in CTLN1).
P00966	341	341	S -> F (in CTLN1).
P00966	345	345	V -> G (in CTLN1).
P00966	347	347	G -> R (in CTLN1; severe clinical course).
P00966	359	359	Y -> D (in CTLN1; mild clinical course).
P00966	362	362	G -> V (in CTLN1; mild).
P00966	363	363	R -> G (in CTLN1).
P00966	363	363	R -> L (in CTLN1).
P00966	363	363	R -> Q (in CTLN1).
P00966	363	363	R -> W (in CTLN1).
P00966	389	389	T -> I (in CTLN1).
P00966	390	390	G -> R (in CTLN1).
Q6HA08	204	204	R -> H (in dbSNP:rs56238667).
Q6HA08	222	222	R -> Q (in dbSNP:rs749458).
Q6HA08	277	277	K -> Q (in dbSNP:rs1657502).
O14525	1270	1270	G -> R (in dbSNP:rs12118933).
O14525	1278	1278	R -> G (in dbSNP:rs12118933).
Q5VZX6	70	70	V -> I (in dbSNP:rs16933591).
Q5VZX6	865	865	R -> H (in dbSNP:rs3818503).
Q5VZX6	1149	1149	V -> I (in dbSNP:rs16933591).
Q5VZX6	1293	1293	V -> L (in a breast cancer sample; somatic mutation).
Q9Y2I4	751	751	V -> I (in dbSNP:rs6058693).
Q9Y2I4	815	815	P -> L (in dbSNP:rs6058694).
Q9Y2I4	983	983	L -> R (in dbSNP:rs34359205).
Q9Y2I4	1325	1325	L -> F (in dbSNP:rs6057581).
Q76L83	731	731	L -> P (in dbSNP:rs13385963).
Q76L83	796	796	A -> V (in dbSNP:rs17854251).
Q76L83	1210	1210	T -> P (in dbSNP:rs12991178).
Q76L83	1242	1242	T -> P (in dbSNP:rs12990978).
Q9C0F0	954	954	N -> S (in dbSNP:rs2282632).
Q9C0F0	1415	1415	M -> R (in dbSNP:rs16964887).
Q9C0F0	1652	1652	V -> M (in dbSNP:rs17746949).
Q9C0F0	1708	1708	M -> V (in dbSNP:rs7232237).
Q8WWH4	216	216	K -> T (in dbSNP:rs1029396).
O60312	353	353	S -> Y (in dbSNP:rs17116056).
O60312	504	504	R -> H (in dbSNP:rs56724944).
O60312	532	532	T -> M (in dbSNP:rs2066703).
O60312	784	784	A -> T (in dbSNP:rs2066704).
O60312	834	834	E -> K (in dbSNP:rs17555920).
O60312	1172	1172	W -> C (in dbSNP:rs2076742).
O60312	1179	1179	A -> T (in dbSNP:rs2076744).
O60312	1188	1188	I -> V (in dbSNP:rs2076745).
O60312	1198	1198	V -> M (in dbSNP:rs2076746).
O60312	1298	1298	R -> S (in dbSNP:rs3816800).
O60312	1397	1397	A -> V (in dbSNP:rs9324127).
O94823	217	217	C -> R (in dbSNP:rs958912).
Q9P241	43	43	T -> I (in dbSNP:rs33995001).
Q9P241	171	171	C -> R (in dbSNP:rs7683838).
Q9P241	320	320	T -> I (in dbSNP:rs35596623).
Q9P241	337	337	A -> T (in dbSNP:rs35012290).
Q9P241	511	511	N -> S (in dbSNP:rs10003238).
Q9P241	522	522	F -> L (in dbSNP:rs6843325).
Q9P241	716	716	P -> T (in dbSNP:rs34208443).
Q9P241	720	720	N -> S (in dbSNP:rs34169638).
Q9P241	959	959	S -> N (in dbSNP:rs17462252).
Q9P241	1183	1183	R -> K (in dbSNP:rs16851681).
Q9P241	1240	1240	V -> I (in dbSNP:rs1058793).
Q9P241	1389	1389	S -> T (in dbSNP:rs4145944).
Q9P241	1392	1392	A -> G (in dbSNP:rs35375547).
Q8K2X1	700	700	V -> A (in strain: CAST, MAI, MBT and PWK).
Q8K2X1	716	716	S -> L (in strain: CAST, MAI, MBT and PWK).
P98196	317	317	M -> L (in dbSNP:rs368865).
P98196	317	317	M -> V (in dbSNP:rs368865).
P98196	1091	1091	V -> I (in dbSNP:rs11616795).
Q6ZUP7	114	114	C -> W (in dbSNP:rs2491014).
Q6ZUP7	157	157	T -> I (in a colorectal cancer sample; somatic mutation).
Q6ZUP7	522	522	Y -> C (in dbSNP:rs17281983).
Q6ZUP7	931	931	Q -> P (in a colorectal cancer sample; somatic mutation).
Q6ZUP7	972	972	V -> M (in dbSNP:rs55724992).
P54707	863	863	P -> L (in dbSNP:rs2289909).
Q9NQ11	12	12	T -> M (in a patient with early onset Parkinson disease).
Q9NQ11	49	49	G -> S (in dbSNP:rs56379718).
Q9NQ11	294	294	R -> Q (in dbSNP:rs56367069).
Q9NQ11	389	389	P -> L (in dbSNP:rs56275621).
Q9NQ11	504	504	G -> R (in a patient with Kufor-Rakeb syndrome).
Q9NQ11	533	533	G -> R (in a patient with early onset Parkinson disease).
Q9NQ11	578	578	V -> G (in dbSNP:rs56186751).
Q9NQ11	746	746	A -> T.
Q9NQ11	762	762	R -> W (in dbSNP:rs55635527).
Q9NQ11	776	776	V -> I (in dbSNP:rs56170027).
Q9NQ11	946	946	I -> F (in dbSNP:rs55708915).
Q4VNC1	181	181	I -> M (in dbSNP:rs6788448).
Q4VNC1	353	353	V -> A.
Q4VNC1	646	646	E -> D (in dbSNP:rs35424709).
Q4VNC0	96	96	S -> Y (in dbSNP:rs12637558).
Q4VNC0	133	133	E -> Q (in dbSNP:rs6797429).
Q4VNC0	739	739	G -> S (in dbSNP:rs2280268).
Q4VNC0	1053	1053	I -> V (in dbSNP:rs6787746).
Q4VNC0	1131	1131	V -> A (in dbSNP:rs2271791).
Q4VNC0	1204	1204	K -> Q (in dbSNP:rs7428010).
P05023	47	47	S -> I (in dbSNP:rs12564026).
P50993	378	378	T -> N (in AHC; dbSNP:rs28934002).
P50993	689	689	R -> Q (in FHM2; dbSNP:rs28933401).
P50993	731	731	M -> T (in FHM2; dbSNP:rs28933400).
P50993	764	764	L -> P (in FHM2; loss of function; dbSNP:rs28933398).
P50993	887	887	W -> R (in FHM2; loss of function; dbSNP:rs28933399).
P13637	274	274	I -> T (in DYT12).
P13637	277	277	E -> K (in DYT12).
P13637	613	613	T -> M (in DYT12).
P13637	758	758	I -> S (in DYT12).
P13637	780	780	F -> L (in DYT12).
P13637	801	801	D -> Y (in DYT12).
Q13733	83	83	G -> D (in dbSNP:rs6427504).
Q13733	297	297	E -> K (in dbSNP:rs17368402).
Q13733	541	541	M -> R (in dbSNP:rs16831482).
Q13733	586	586	M -> I (in dbSNP:rs7528360).
P14415	124	124	Q -> L (in dbSNP:rs34745087).
P14415	199	199	T -> A (in dbSNP:rs2227866).
Q9UN42	48	48	V -> A (in dbSNP:rs2072452).
O14983	789	789	P -> L (in BRM; almost complete loss of Ca(2+) transport activity because of reduced Ca(2+) affinity).
P16615	23	23	G -> E (in DD; dbSNP:rs28929478).
P16615	39	39	N -> T (in DD).
P16615	41	41	Missing (in DD; comedonal type).
P16615	47	47	K -> KMFLTGK (in DD).
P16615	65	65	L -> S (in DD; severe form).
P16615	131	131	R -> Q (in DD).
P16615	160	160	P -> L (in DD).
P16615	186	186	S -> P (in DD).
P16615	211	211	G -> D (in DD; severe form).
P16615	223	223	V -> M (in DD).
P16615	268	268	C -> F (in DD; haemorrhagic lesions).
P16615	310	310	G -> V (in DD).
P16615	318	318	C -> R (in DD; severe form).
P16615	348	348	I -> T (in DD).
P16615	357	357	T -> K (in DD).
P16615	412	412	E -> G (in DD).
P16615	495	495	S -> F (in DD).
P16615	560	560	C -> R (in DD; neuropsychiatric phenotype).
P16615	602	602	P -> L (in AKV; loss of activity).
P16615	675	675	F -> S (in DD; multiple neuropsychiatric features).
P16615	683	683	K -> E (in DD; depression).
P16615	702	702	D -> N (in DD; moderate form).
P16615	745	745	A -> D (in DD; moderate form).
P16615	749	749	G -> R (in DD).
P16615	754	754	Missing (in DD).
P16615	765	765	S -> L (in DD).
P16615	767	767	N -> S (in DD; haemorrhagic lesions and neuropsychiatric phenotype).
P16615	769	769	G -> R (in DD).
P16615	803	803	A -> T (in DD; mild/moderate form).
P16615	838	838	A -> P (in DD; severe form; petit mal epilepsy).
P16615	843	843	V -> F (in DD; depression).
P16615	875	875	C -> G (in DD; retinitis pigmentosa).
P16615	920	920	S -> Y (in DD; mild/moderate/severe form; one patient with epilepsy).
P16615	943	943	H -> R (in DD; learning difficulties).
P16615	975	975	P -> R (in DD).
Q8TEX6	674	674	R -> H (in a breast cancer sample; somatic mutation).
Q8TEX6	869	869	Q -> H (in dbSNP:rs11654827).
P20020	267	267	M -> R (rare polymorphism).
Q9R0K7	243	243	G -> S (in dfw).
Q9R0K7	412	412	E -> K.
Q16720	198	198	I -> M (in dbSNP:rs2269409).
P98194	201	201	P -> L (in HHD).
P98194	304	304	A -> T (in HHD).
P98194	309	309	G -> C (in HHD; unable to bind manganese, reduced affinity for calcium).
P98194	318	318	L -> P (in HHD).
P98194	341	341	L -> P (in HHD; unstable protein).
P98194	344	344	C -> Y (in HDD; unstable protein).
P98194	411	411	C -> R (in HDD; unstable protein).
P98194	450	450	A -> T (in dbSNP:rs41434650).
P98194	490	490	C -> F (in HHD).
P98194	570	570	T -> I (in HDD; unstable protein).
P98194	580	580	I -> V (in HDD; unable to undergo conformational change necessary for ion transport).
P98194	584	584	L -> P (in HHD).
P98194	641	641	M -> R (in HHD).
P98194	645	645	G -> R (in HHD).
P98194	709	709	T -> M (in HHD).
P98194	742	742	D -> Y (in HDD; unable to bind calcium or manganese).
P98194	744	744	P -> R (in HHD).
P98194	789	789	G -> R (in HDD; unstable protein).
O75185	165	165	M -> L (in dbSNP:rs247818).
O75185	411	411	G -> S (in dbSNP:rs2303853).
O75185	466	466	M -> L (in dbSNP:rs247897).
O75185	907	907	L -> P (in dbSNP:rs16973859).
Q8TBG4	185	185	S -> P (in dbSNP:rs1377210).
Q8IUZ5	126	126	H -> R (in dbSNP:rs7707147).
P24539	152	152	T -> M (in dbSNP:rs1264895).
P24539	152	152	T -> N (in dbSNP:rs1264895).
Q06055	58	58	S -> I (in dbSNP:rs13819).
Q06055	141	141	M -> K (in dbSNP:rs1803177).
P48201	93	93	G -> E (in dbSNP:rs1802622).
Q9NW81	9	9	R -> C (in dbSNP:rs2231938).
Q9NW81	23	23	H -> R (in dbSNP:rs2231939).
Q9NW81	34	34	N -> S (in dbSNP:rs2231940).
Q9NW81	159	159	C -> S (in dbSNP:rs1043413).
Q9NW81	230	230	E -> K (in dbSNP:rs2231943).
Q5T6C5	495	495	P -> S (in dbSNP:rs1149172).
Q9Y2Q0	673	673	T -> M (in dbSNP:rs3792687).
Q9NTI2	1029	1029	A -> T (in dbSNP:rs2296242).
O43520	45	45	N -> T (in ICP).
O43520	70	70	D -> N (in BRIC1; compound heterozygote with Q-600; uncertain pathological significance; may be associated with ICP; dbSNP:rs34719006).
O43520	78	78	H -> Q (in dbSNP:rs3745079).
O43520	127	127	L -> P (in PFIC1).
O43520	203	203	K -> E (in ICP; dbSNP:rs56355310).
O43520	288	288	L -> S (in PFIC1).
O43520	305	305	F -> I.
O43520	308	308	G -> D (in BRIC1; dbSNP:rs28939685).
O43520	308	308	G -> V (in PFIC1; dbSNP:rs28939685).
O43520	344	344	I -> F (in BRIC1).
O43520	384	384	R -> H (in dbSNP:rs2271260).
O43520	393	393	I -> V (in dbSNP:rs34315917).
O43520	403	403	S -> Y (in PFIC1).
O43520	412	412	R -> P (in PFIC1).
O43520	429	429	E -> A (in dbSNP:rs34018205).
O43520	453	453	S -> Y (in BRIC1).
O43520	454	454	D -> G (in BRIC1).
O43520	456	456	T -> M (in PFIC1).
O43520	500	500	Y -> H (in PFIC1).
O43520	529	529	Missing (in PFIC1).
O43520	535	535	H -> L (in PFIC1).
O43520	554	554	D -> N (in PFIC1).
O43520	577	577	I -> V (in dbSNP:rs3745078).
O43520	580	580	S -> N (in dbSNP:rs33963153).
O43520	600	600	R -> Q (in BRIC1; compound heterozygote with N-70).
O43520	600	600	R -> W (in BRIC1).
O43520	628	628	R -> W (in BRIC1).
O43520	645	699	Missing (in PFIC1).
O43520	661	661	I -> T (in BRIC1 and PFIC1; common mutation; dbSNP:rs28939686).
O43520	674	674	M -> T (in dbSNP:rs35470719).
O43520	688	688	D -> G (in PFIC1).
O43520	694	694	I -> T (in BRIC1).
O43520	733	733	G -> R (in PFIC1).
O43520	795	797	Missing (in BRIC1).
O43520	814	814	K -> N (in dbSNP:rs34018300).
O43520	853	853	F -> S (in PFIC1).
O43520	867	867	R -> C (in ICP).
O43520	886	886	A -> V (in a breast cancer sample; somatic mutation).
O43520	892	892	G -> R (in PFIC1 and BRIC1).
O43520	952	952	R -> Q (in dbSNP:rs12968116).
O43520	1040	1040	G -> R (in PFIC1).
O43520	1152	1152	A -> T (in dbSNP:rs222581).
O43520	1178	1178	I -> M (in a breast cancer sample; somatic mutation).
O60423	45	45	G -> R (in dbSNP:rs7250872).
O60423	618	618	V -> I (in dbSNP:rs8100856).
Q8TF62	225	225	N -> S (in dbSNP:rs16963151).
Q8TF62	452	452	H -> N (in dbSNP:rs2452524).
Q8TF62	1165	1165	N -> K (in dbSNP:rs16962989).
Q8TF62	1190	1190	V -> G (in dbSNP:rs16962987).
Q8NBU5	107	107	V -> I (in a colorectal cancer sample; somatic mutation).
Q6PL18	1280	1280	I -> T (in dbSNP:rs3758122).
Q96QE3	35	35	T -> S (in dbSNP:rs9910051).
Q96QE3	87	87	P -> S (in dbSNP:rs3816780).
Q96QE3	135	135	E -> G (in dbSNP:rs11080134).
Q96QE3	249	249	R -> K (in dbSNP:rs17826219).
Q96QE3	699	699	N -> H (in dbSNP:rs3764421).
Q96QE3	1419	1419	Y -> H (in dbSNP:rs11657270).
Q7L8W6	41	41	G -> E (in dbSNP:rs34907758).
Q7L8W6	236	236	R -> P (in dbSNP:rs10519996).
Q86WG3	301	301	S -> R (in ATCAY).
Q9ULI0	118	118	S -> P (in dbSNP:rs10210982).
Q9NVI7	15	15	G -> D (in dbSNP:rs2274435).
Q9NVI7	101	101	S -> N (in dbSNP:rs1619896).
Q5T9A4	7	7	V -> I (in dbSNP:rs1240504).
P18846	191	191	P -> A (in dbSNP:rs2230674).
P15336	352	352	D -> H (in a breast cancer sample; somatic mutation).
P18847	38	38	T -> M (in dbSNP:rs11571541).
P18848	22	22	Q -> P (in dbSNP:rs4894).
P18848	258	258	P -> A (in dbSNP:rs1803323).
P18848	322	322	E -> D (in dbSNP:rs1803324).
Q9Y2D1	121	121	L -> P (in dbSNP:rs283526).
P18850	67	67	M -> L (in dbSNP:rs1058405).
P18850	67	67	M -> V (in dbSNP:rs1058405).
P18850	145	145	A -> P (in dbSNP:rs2070150).
P18850	157	157	P -> S (in dbSNP:rs1135983).
Q9H0Y0	62	62	S -> P (in dbSNP:rs3734114).
Q9H0Y0	212	212	T -> M (in dbSNP:rs1864183).
Q9H0Y0	220	220	P -> H (in dbSNP:rs1864182).
Q5A1Z5	59	59	T -> S (in allele CaO19.10367).
Q5A1Z5	116	116	N -> S (in allele CaO19.10367).
Q5KL13	80	80	V -> M (in strain: B-3501A).
Q5KL13	439	439	G -> E (in strain: B-3501A).
Q5KL13	494	496	Missing (in strain: B-3501A).
Q5KGQ2	312	312	A -> G (in strain: B-3501A).
Q5K8D3	140	140	D -> N (in strain: B-3501A).
Q5K8D3	517	517	A -> T (in strain: B-3501A).
Q5K8D3	617	617	A -> T (in strain: B-3501A).
Q5K8D3	625	625	P -> A (in strain: B-3501A).
Q5K8D3	962	962	D -> E (in strain: B-3501A).
Q5A950	164	164	E -> K (in allele CaO19.10147).
Q5A950	203	203	K -> R (in allele CaO19.10147).
Q5A950	206	206	T -> TAT (in allele CaO19.10147).
Q5A950	235	235	E -> K (in allele CaO19.10147).
Q5KK25	83	83	D -> N (in strain: B-3501A).
Q5KK25	151	151	C -> F (in strain: B-3501A).
Q5KK25	789	789	M -> I (in strain: B-3501A).
Q5KK25	1487	1487	H -> L (in strain: B-3501A).
Q2TAZ0	175	175	V -> I (in dbSNP:rs12293826).
Q2TAZ0	394	394	R -> C (in dbSNP:rs35115827).
Q2TAZ0	404	404	A -> V (in dbSNP:rs60711419).
Q2TAZ0	627	627	A -> V (in dbSNP:rs2285347).
Q2TAZ0	656	656	P -> R (in dbSNP:rs656195).
Q2TAZ0	948	948	G -> R (in dbSNP:rs11827140).
Q96BY7	1124	1124	N -> D (in dbSNP:rs9323945).
Q96BY7	1383	1383	Q -> E (in dbSNP:rs3759601).
Q96BY7	1567	1567	T -> I (in dbSNP:rs2289622).
Q5ABQ7	306	306	V -> G (in allele CaO19.13441).
Q5ABQ7	320	320	V -> D (in allele CaO19.13441).
Q5ABQ7	324	324	I -> M (in allele CaO19.13441).
Q5ABQ7	327	327	D -> E (in allele CaO19.13441).
Q9Y4P1	354	354	L -> Q (in dbSNP:rs7601000).
Q59UG3	16	16	S -> L (in allele CaO19.9938).
Q59UG3	176	176	D -> G (in allele CaO19.9938).
Q59UG3	216	217	AS -> TN (in allele CaO19.9938).
Q59UG3	225	225	I -> L (in allele CaO19.9938).
Q59UG3	229	229	K -> R (in allele CaO19.9938).
Q59UG3	255	255	N -> S (in allele CaO19.9938).
Q59UG3	364	369	TSCLDI -> SSCIDN (in allele CaO19.9938).
Q9H1Y0	58	58	K -> M (in a colorectal cancer sample; somatic mutation).
Q59PZ3	2	2	T -> S (in allele CaO19.8326).
Q59PZ3	5	6	KY -> SD (in allele CaO19.8326).
Q5KC57	177	177	K -> N (in strain: B-3501A).
Q5KC57	188	188	T -> A (in strain: B-3501A).
Q5KC57	260	260	E -> G (in strain: B-3501A).
Q5KC57	498	499	Missing (in strain: B-3501A).
Q5KC57	504	504	S -> W (in strain: B-3501A).
Q5KC57	526	526	T -> A (in strain: B-3501A).
O95352	471	471	V -> A (in dbSNP:rs36117895).
Q9H6L1	592	592	S -> G (in dbSNP:rs2276635).
Q9H6L1	659	659	Q -> H (in dbSNP:rs2276634).
Q674R7	166	166	P -> L (in dbSNP:rs61078191).
P10230	3	3	R -> H (in strain: 17 syn+).
P10230	411	411	N -> S (in strain: Nonneuroinvasive mutant HF10).
P10230	510	510	A -> V (in strain: Nonneuroinvasive mutant HF10).
P10230	513	513	T -> A (in strain: Nonneuroinvasive mutant HF10).
P10230	631	631	R -> W (in strain: Nonneuroinvasive mutant HF10).
Q9BXY3	242	242	S -> N (in dbSNP:rs776755).
Q86TH1	113	113	R -> H (in geleophysic dysplasia; leads to the reduced secretion of the mutated protein).
Q86TH1	114	114	E -> K (in geleophysic dysplasia).
Q86TH1	147	147	P -> L (in geleophysic dysplasia; leads to the reduced secretion of the mutated protein).
Q86TH1	364	364	V -> I (in dbSNP:rs35767802).
Q86TH1	811	811	G -> R (in geleophysic dysplasia; leads to the reduced secretion of the mutated protein).
P82987	146	146	H -> R (in dbSNP:rs4483821).
P82987	290	290	L -> V (in dbSNP:rs4144691).
P82987	330	330	V -> M (in a colorectal cancer sample; somatic mutation).
P82987	587	587	R -> H (in a colorectal cancer sample; somatic mutation).
P82987	661	661	V -> L (in dbSNP:rs4842838).
P82987	713	713	G -> R (in dbSNP:rs34047645).
P82987	855	855	R -> C (in a colorectal cancer sample; somatic mutation).
P82987	855	855	R -> H (in dbSNP:rs2277848).
P82987	869	869	L -> F (in dbSNP:rs2277849).
P82987	1315	1315	A -> E (in a colorectal cancer sample; somatic mutation).
P82987	1370	1370	T -> A (in dbSNP:rs17158450).
P82987	1558	1558	M -> T (in dbSNP:rs7175910).
P82987	1660	1660	T -> I (in dbSNP:rs950169).
P82987	1679	1679	R -> H (in dbSNP:rs11857906).
Q6UY14	193	193	A -> P (in dbSNP:rs41317515).
Q6UY14	1028	1028	R -> H (in dbSNP:rs56411234).
Q8WXF7	43	43	D -> E (in dbSNP:rs17850684).
Q8WXF7	161	161	A -> P (in SPG3; affects endoplasmic reticulum and Golgi morphology).
Q8WXF7	193	193	F -> C (in dbSNP:rs17850683).
Q8WXF7	217	217	R -> Q (in SPG3; alters endoplasmic reticulum morphology).
Q8WXF7	239	239	R -> C (in SPG3; affects endoplasmic reticulum and Golgi morphology).
Q8WXF7	247	247	H -> P (in SPG3).
Q8WXF7	258	258	H -> R (in SPG3).
Q8WXF7	259	259	S -> Y (in SPG3).
Q8NHH9	18	18	W -> R (in dbSNP:rs3731847).
Q8NHH9	272	272	N -> S (in dbSNP:rs34873284).
Q8NHH9	420	420	D -> H (in dbSNP:rs7582826).
Q5KBN9	725	725	V -> I (in strain: B-3501A).
O43313	240	240	S -> P (in dbSNP:rs2278022).
O43313	305	305	K -> E (in dbSNP:rs2278023).
Q5ABX0	1158	1158	P -> S (in allele CaO19.13026).
Q5ABX0	1231	1231	K -> R (in allele CaO19.13026).
Q5ABX0	1324	1324	L -> V (in allele CaO19.13026).
Q5KFE0	142	142	A -> V (in strain: B-3501A).
Q5KFE0	171	171	L -> H (in strain: B-3501A).
Q5KFE0	336	336	G -> R (in strain: B-3501A).
Q5KFE0	395	395	V -> I (in strain: B-3501A).
Q5KFE0	444	444	S -> N (in strain: B-3501A).
Q5KFE0	472	478	NDENNND -> DDDQSHN (in strain: B-3501A).
Q5KFE0	501	501	P -> S (in strain: B-3501A).
Q5KFE0	786	786	A -> V (in strain: B-3501A).
Q5KFE0	795	795	E -> EE (in strain: B-3501A).
Q5KFE0	854	854	P -> A (in strain: B-3501A).
Q5KFE0	915	916	HE -> DD (in strain: B-3501A).
Q5KFE0	972	972	G -> A (in strain: B-3501A).
Q5KFE0	1128	1128	D -> Q (in strain: B-3501A).
Q5KFE0	1275	1275	T -> A (in strain: B-3501A).
Q5KFE0	1342	1342	A -> V (in strain: B-3501A).
Q5KFE0	1380	1380	E -> K (in strain: B-3501A).
Q5KFE0	2162	2162	V -> A (in strain: B-3501A).
Q5KFE0	2165	2165	K -> R (in strain: B-3501A).
Q5KFE0	2254	2254	Y -> D (in strain: B-3501A).
Q13315	23	23	R -> Q (in a colorectal adenocarcinoma sample; somatic mutation).
Q13315	45	45	R -> W (in dbSNP:rs3218684).
Q13315	49	49	S -> C (in dbSNP:rs1800054).
Q13315	126	126	D -> E (in dbSNP:rs2234997).
Q13315	140	140	D -> H.
Q13315	182	182	V -> L (in dbSNP:rs3218707).
Q13315	224	224	K -> E (in AT).
Q13315	250	250	R -> Q.
Q13315	292	292	P -> L (in AT; associated with lymphoma).
Q13315	323	323	I -> V (in AT).
Q13315	332	332	Y -> C (in B-cell chronic lymphocytic leukemia).
Q13315	333	333	S -> F.
Q13315	337	337	R -> C (in a colorectal adenocarcinoma sample; somatic mutation).
Q13315	337	337	R -> H (in a colorectal adenocarcinoma sample; somatic mutation).
Q13315	350	350	A -> T (in B-cell chronic lymphocytic leukemia).
Q13315	352	352	I -> T (in B-cell chronic lymphocytic leukemia).
Q13315	410	410	V -> A.
Q13315	504	504	N -> S.
Q13315	514	514	G -> D (in dbSNP:rs2235000).
Q13315	540	540	C -> Y (in a colorectal adenocarcinoma sample; somatic mutation).
Q13315	546	546	L -> V (in dbSNP:rs2227924).
Q13315	570	570	F -> S (in AT).
Q13315	582	582	F -> L (in dbSNP:rs2235006).
Q13315	705	707	YSS -> FIP (in AT; might be associated with susceptibility to cancer).
Q13315	707	707	S -> P (in dbSNP:rs4986761).
Q13315	761	761	T -> S (in dbSNP:rs2235011).
Q13315	768	768	N -> D (in AT).
Q13315	785	785	R -> C (in AT).
Q13315	788	788	S -> R (in dbSNP:rs641252).
Q13315	814	814	D -> E (in dbSNP:rs3218695).
Q13315	848	848	E -> Q (in a lung adenocarcinoma sample; somatic mutation).
Q13315	858	858	F -> L (rare polymorphism; dbSNP:rs1800056).
Q13315	872	872	P -> S.
Q13315	924	924	R -> W.
Q13315	935	935	T -> A.
Q13315	935	935	T -> M (in dbSNP:rs3218708).
Q13315	942	942	L -> F (in dbSNP:rs3218688).
Q13315	950	950	L -> R (in AT).
Q13315	1001	1001	L -> Q (in AT; associated with T-cell acute lymphoblastic leukemia).
Q13315	1040	1040	M -> V (in B-cell non-Hodgkin lymphoma; dbSNP:rs3092857).
Q13315	1054	1054	P -> R (in dbSNP:rs1800057).
Q13315	1082	1082	H -> L (in AT).
Q13315	1091	1091	E -> D (in AT).
Q13315	1179	1179	S -> F (in a gastric adenocarcinoma sample; somatic mutation).
Q13315	1313	1313	E -> Q (in dbSNP:rs3092841).
Q13315	1321	1321	M -> I.
Q13315	1380	1380	H -> Y.
Q13315	1382	1382	P -> S.
Q13315	1407	1407	I -> T (in T-prolymphocytic leukemia).
Q13315	1420	1420	L -> F (rare polymorphism; dbSNP:rs1800058).
Q13315	1420	1420	L -> P (in AT).
Q13315	1427	1427	A -> T (in dbSNP:rs2229021).
Q13315	1454	1454	K -> N.
Q13315	1463	1463	F -> S (in B-cell non-Hodgkin lymphoma).
Q13315	1465	1465	L -> P (in AT).
Q13315	1469	1469	I -> M (in a renal papillary cancer sample; somatic mutation).
Q13315	1475	1475	Y -> C.
Q13315	1541	1541	L -> F (in dbSNP:rs3092849).
Q13315	1566	1566	P -> R (in AT).
Q13315	1570	1570	V -> A.
Q13315	1650	1650	N -> S.
Q13315	1682	1682	D -> H (in T-prolymphocytic leukemia).
Q13315	1691	1691	S -> R (in AT and B-cell chronic lymphocytic leukemia; could be a rare polymorphism; dbSNP:rs1800059).
Q13315	1729	1729	V -> L (in dbSNP:rs3092907).
Q13315	1739	1739	N -> T (in a colorectal adenocarcinoma sample; somatic mutation).
Q13315	1743	1743	T -> I (in AT; associated with preleukemic T-cell proliferation).
Q13315	1812	1813	AF -> V (in AT).
Q13315	1853	1853	D -> N (common polymorphism; dbSNP:rs1801516).
Q13315	1853	1853	D -> V (might contribute to B-cell chronic lymphocytic leukemia; dbSNP:rs1801673).
Q13315	1910	1910	L -> H (in T-prolymphocytic leukemia).
Q13315	1913	1913	V -> G (in AT).
Q13315	1916	1916	M -> I (in a breast pleomorphic lobular carcinoma sample; somatic mutation).
Q13315	1945	1945	A -> T (in a colorectal adenocarcinoma sample; somatic mutation).
Q13315	1953	1953	T -> R (in B-cell chronic lymphocytic leukemia).
Q13315	1961	1961	Y -> C.
Q13315	1983	1983	S -> N.
Q13315	1991	1991	E -> D (in a renal clear cell carcinoma sample; somatic mutation).
Q13315	2016	2016	D -> G (in AT).
Q13315	2034	2034	R -> Q (in dbSNP:rs3218670).
Q13315	2063	2063	G -> E (in AT).
Q13315	2067	2067	A -> D (in AT).
Q13315	2079	2079	V -> I (in dbSNP:rs1800060).
Q13315	2139	2139	E -> G (in T-prolymphocytic leukemia; somatic mutation).
Q13315	2164	2164	E -> K (in T-prolymphocytic leukemia).
Q13315	2218	2218	S -> C (in AT).
Q13315	2224	2227	MALR -> IS (in AT).
Q13315	2227	2227	R -> C (in AT).
Q13315	2246	2252	CIKDILT -> H (in AT).
Q13315	2274	2274	A -> T (in B-cell chronic lymphocytic leukemia).
Q13315	2287	2287	G -> A (in dbSNP:rs1800061).
Q13315	2307	2307	L -> F.
Q13315	2332	2332	L -> P.
Q13315	2335	2335	T -> K (in dbSNP:rs3092831).
Q13315	2356	2356	I -> F (in a renal clear cell carcinoma sample; somatic mutation).
Q13315	2396	2396	T -> S (in T-prolymphocytic leukemia).
Q13315	2408	2408	S -> L (in a colorectal adenocarcinoma sample; somatic mutation).
Q13315	2418	2418	K -> KK (in mantle cell lymphoma).
Q13315	2420	2420	A -> P (in B-cell chronic lymphocytic leukemia).
Q13315	2423	2423	E -> G (in mantle cell lymphoma).
Q13315	2424	2424	V -> G (in AT, B-cell chronic lymphocytic leukemia and T-prolymphocytic leukemia; associated with increased risk for breast cancer).
Q13315	2427	2428	Missing (in AT; associated with T- prolymphocytic leukemia).
Q13315	2438	2438	T -> I.
Q13315	2442	2442	Q -> P (in T-prolymphocytic leukemia; also in a lung adenocarcinoma sample; somatic mutation).
Q13315	2443	2443	R -> Q (in a colorectal adenocarcinoma sample; somatic mutation).
Q13315	2464	2464	C -> R.
Q13315	2470	2470	Y -> D (in AT).
Q13315	2486	2486	R -> G (in T-prolymphocytic leukemia).
Q13315	2491	2491	W -> R (in AT).
Q13315	2492	2492	L -> R.
Q13315	2546	2548	Missing (in AT, T-prolymphocytic leukemia and T-cell acute lymphoblastic leukemia).
Q13315	2554	2554	H -> D (in AT).
Q13315	2570	2570	E -> G (in dbSNP:rs28904920).
Q13315	2625	2626	DA -> EP (in AT).
Q13315	2625	2625	D -> Q (in AT; requires 2 nucleotide substitutions).
Q13315	2640	2640	T -> I (in dbSNP:rs4988125).
Q13315	2656	2656	L -> P (in AT; partial functional loss).
Q13315	2662	2662	Missing (in AT).
Q13315	2663	2663	Missing (in AT).
Q13315	2666	2666	T -> A (in a lung adenocarcinoma sample; somatic mutation).
Q13315	2668	2668	E -> G (in AT).
Q13315	2695	2695	G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia).
Q13315	2702	2702	I -> R (in AT).
Q13315	2709	2709	G -> S (in dbSNP:rs3218680).
Q13315	2719	2719	R -> H.
Q13315	2722	2722	L -> R (in T-prolymphocytic leukemia).
Q13315	2725	2725	D -> G (in T-prolymphocytic leukemia).
Q13315	2725	2725	D -> V (in T-prolymphocytic leukemia).
Q13315	2726	2726	A -> V (in AT).
Q13315	2732	2732	F -> L (in T-prolymphocytic leukemia).
Q13315	2765	2765	G -> S (may contribute to breast cancer).
Q13315	2810	2810	Missing (in T-prolymphocytic leukemia).
Q13315	2824	2824	C -> Y (in AT).
Q13315	2827	2827	F -> C (in AT; mild).
Q13315	2829	2829	P -> L (in AT).
Q13315	2832	2832	R -> C (in AT and B-cell non-Hodgkin lymphoma).
Q13315	2842	2842	P -> R (in a lung adenocarcinoma sample; somatic mutation).
Q13315	2849	2849	R -> P (in AT).
Q13315	2855	2856	SV -> RI (in AT).
Q13315	2855	2855	S -> R (in AT).
Q13315	2860	2860	Missing (in AT).
Q13315	2867	2867	G -> R (in AT).
Q13315	2870	2870	D -> N.
Q13315	2871	2872	RH -> S (in T-prolymphocytic leukemia).
Q13315	2890	2890	L -> V (in T-prolymphocytic leukemia).
Q13315	2904	2904	E -> G (in AT).
Q13315	2909	2909	R -> G (in AT).
Q13315	3006	3006	A -> P (in T-prolymphocytic leukemia).
Q13315	3008	3008	R -> C (in AT, T-prolymphocytic leukemia and mantle cell lymphoma).
Q13315	3008	3008	R -> H (in B-cell chronic lymphocytic leukemia).
Q13315	3018	3018	K -> N (in B-cell chronic lymphocytic leukemia).
P54259	339	339	M -> I (in dbSNP:rs1058045).
Q9VDG8	429	429	Y -> C (in RNA edited version).
P54710	41	41	G -> R (in HOMG2; fails to localize to plasma membrane; dbSNP:rs28938168).
Q92858	237	237	H -> Q (in dbSNP:rs35182771).
Q96SQ7	150	150	L -> P (in dbSNP:rs17851881).
P48987	104	104	N -> K (in strain: ZBMEL191).
P48987	146	146	A -> T (in strain: ZBMEL191).
P48987	149	149	G -> A (in strain: Oregon-R, ZBMEL84, ZBMEL95, ZBMEL131, ZBMEL157, ZBMEL186, ZBMEL191 and ZBMEL229).
Q5KGJ3	207	207	K -> R (in strain: B-3501A).
Q9Y6H3	48	48	S -> C (in dbSNP:rs3751325).
P20648	265	265	V -> A (in dbSNP:rs2733743).
P22027	26	26	Missing (in one third of the chains).
Q99766	18	18	L -> P (in dbSNP:rs2275592).
P00847	59	59	S -> N (in strain: 65).
Q8YFH6	171	171	S -> T (in strain 133).
Q8YFH6	189	191	VFA -> FSP (in strain 133).
Q8HEC5	51	51	S -> G (in strain: VT847).
Q8HEC5	53	53	V -> L (in strain: VT847).
Q8HEC5	66	66	C -> W (in strain: VT847).
Q8HEC5	86	86	V -> F (in strain: ED3032 and ED3036).
Q8HEC5	90	90	V -> I (in strain: VT847).
Q8HEC5	98	98	T -> A (in strain: EG4181).
Q8HEC5	168	168	V -> I (in strain: ED3092 and ED3101).
Q1HKB1	66	66	R -> Q.
Q1HKB1	143	143	V -> I.
Q1HKB1	187	187	T -> I.
Q1HKB1	201	201	I -> T.
Q7IV55	137	137	V -> I (in strain: BG1).
P50269	28	28	L -> I (in strain: HW00, HW09, NC37, NC48, TT00 and TT01).
P50269	115	115	L -> M (in strain: HW00, HW09, NC37, NC48, TT00 and TT01).
P50269	119	119	I -> F (in strain: C167).
P50269	137	137	I -> V (in strain: HW00, HW09, NC37, NC48, TT00 and TT01).
P50269	187	187	V -> I (in strain: HW09).
Q8HNQ4	7	7	A -> T.
Q8HNQ4	11	11	A -> T.
Q8HNQ4	14	14	I -> V.
Q8HNQ4	16	16	G -> S.
Q8HNQ4	33	33	T -> S.
Q8HNQ4	37	37	L -> P.
Q8HNQ4	53	53	T -> I.
Q8HNQ4	59	59	T -> A.
Q8HNQ4	60	60	M -> T.
Q8HNQ4	61	61	H -> Y.
Q8HNQ4	80	80	A -> T.
Q8HNQ4	90	90	H -> Y.
Q8HNQ4	112	112	T -> A.
Q8HNQ4	117	117	F -> L.
Q8HNQ4	121	121	I -> V.
Q8HNQ4	133	133	T -> A.
Q8HNQ4	155	155	A -> T.
Q8HNQ4	156	156	L -> P (in LS).
Q8HNQ4	156	156	L -> R (in NARP and LS).
Q8HNQ4	177	177	A -> T.
Q8HNQ4	178	178	T -> A.
Q8HNQ4	182	182	S -> L.
Q8HNQ4	192	192	I -> T (in LHON; possible rate primary mutation).
Q8HNQ4	192	192	I -> V.
Q8HNQ4	193	193	F -> L.
Q8HNQ4	204	204	I -> T.
Q8HNQ4	213	213	V -> I.
Q8HNQ4	217	217	L -> P (in LS and infantile bilateral striatal necrosis).
Q8HNQ4	219	219	S -> G.
Q36964	17	17	T -> A (in subspecies Rhodurus).
Q36964	136	136	I -> V (in subspecies Rhodurus).
Q95A26	4	4	D -> N (in strain: Isolate Anna).
Q95A26	178	178	T -> A (in strain: Isolate Anna).
P05504	101	101	D -> N.
Q36967	26	26	I -> V (in haplotypes MA).
P0A2Y8	206	206	W -> S (in strain: HV109/R; optochin- resistant).
O03570	3	3	M -> T.
O03570	187	187	V -> M.
O03570	211	211	Y -> I.
P00854	171	171	I -> M (in strain: D273-10B/A1).
P00854	177	177	F -> I (in strain: D273-10B/A1).
P00854	231	231	M -> I (in strain: D273-10B/A1).
P00854	241	241	G -> S (in strain: D273-10B/A1).
P00854	245	245	A -> T (in strain: D273-10B/A1).
P00854	255	256	AV -> TL (in strain: D273-10B/A1).
Q04656	629	629	A -> P (in MNKD).
Q04656	637	637	S -> L (in OHS; dbSNP:rs28936068).
Q04656	669	669	I -> T (in dbSNP:rs2234935).
Q04656	703	703	R -> H (in dbSNP:rs2234936).
Q04656	706	706	L -> R (in MNKD).
Q04656	727	727	G -> R (in MNKD).
Q04656	767	767	V -> L (in dbSNP:rs2227291).
Q04656	844	844	R -> H (in MNKD).
Q04656	853	853	G -> R (in MNKD).
Q04656	860	860	G -> V (in MNKD).
Q04656	873	873	L -> R (in MNKD).
Q04656	876	876	G -> E (in MNKD).
Q04656	876	876	G -> R (in MNKD).
Q04656	924	924	Q -> R (in MNKD).
Q04656	1000	1000	C -> R (in MNKD).
Q04656	1006	1006	L -> P (in MNKD).
Q04656	1007	1007	A -> V (in MNKD).
Q04656	1015	1015	G -> D (in MNKD).
Q04656	1019	1019	G -> D (in MNKD).
Q04656	1044	1044	D -> G (in MNKD).
Q04656	1100	1100	L -> P (in MNKD).
Q04656	1118	1118	G -> D (in MNKD).
Q04656	1255	1255	G -> R (in MNKD).
Q04656	1282	1282	K -> E (in MNKD).
Q04656	1300	1300	G -> E (in MNKD).
Q04656	1302	1302	G -> R (in MNKD).
Q04656	1302	1302	G -> V (in MNKD).
Q04656	1304	1304	N -> K (in MNKD).
Q04656	1305	1305	D -> A (in MNKD).
Q04656	1315	1315	G -> R (in MNKD).
Q04656	1325	1325	A -> V (in MNKD).
Q04656	1344	1344	S -> R (in MNKD).
Q04656	1345	1345	I -> F (in MNKD).
Q04656	1362	1362	A -> V (in MNKD).
Q04656	1369	1369	G -> R (in MNKD).
Q04656	1397	1397	S -> F (in MNKD).
Q04656	1464	1464	I -> V (in dbSNP:rs2234938).
Q64430	674	674	H -> R (in MD).
Q64430	1381	1381	S -> P (in MD).
P35670	14	14	A -> D.
P35670	41	41	N -> S (in WD).
P35670	85	85	G -> V (in WD).
P35670	96	96	G -> D.
P35670	290	290	V -> L.
P35670	390	390	I -> V.
P35670	406	406	S -> A (in dbSNP:rs1801243).
P35670	446	446	V -> L.
P35670	456	456	V -> L (in dbSNP:rs1801244).
P35670	466	466	L -> V.
P35670	486	486	A -> S (in WD).
P35670	492	492	L -> S (in WD).
P35670	532	532	Y -> H (in WD).
P35670	536	536	V -> A (in WD).
P35670	565	565	N -> S.
P35670	591	591	G -> D (in WD).
P35670	604	604	A -> P (in WD).
P35670	608	609	FD -> Y (in WD).
P35670	616	616	R -> Q (in WD).
P35670	616	616	R -> W (in WD).
P35670	626	626	G -> A (in WD).
P35670	639	639	H -> Y (in WD).
P35670	641	641	L -> S (in WD).
P35670	642	642	D -> H (in WD).
P35670	645	645	M -> R (in WD).
P35670	653	653	S -> Y (in WD).
P35670	657	657	S -> R (in WD).
P35670	665	665	M -> I (in WD).
P35670	670	671	Missing (in WD).
P35670	690	690	P -> L (in WD).
P35670	691	691	G -> R (in WD).
P35670	693	693	S -> C (in WD).
P35670	703	703	C -> Y (in WD).
P35670	708	708	L -> P (in WD).
P35670	710	710	G -> A (in WD).
P35670	710	710	G -> R (in WD).
P35670	710	710	G -> S (in WD).
P35670	710	710	G -> V (in WD).
P35670	711	711	G -> E (in WD).
P35670	711	711	G -> R (in WD).
P35670	711	711	G -> W (in WD).
P35670	713	713	Y -> C (in WD).
P35670	721	721	S -> P (in WD).
P35670	723	723	R -> G.
P35670	737	737	T -> R (in WD).
P35670	741	741	Y -> C (in WD).
P35670	744	744	S -> P (in WD).
P35670	747	747	I -> F (in WD).
P35670	756	756	A -> G (in WD).
P35670	760	760	P -> L (in WD).
P35670	765	765	D -> G (in WD).
P35670	765	765	D -> N (in WD; dbSNP:rs28942075).
P35670	766	766	T -> M (in WD).
P35670	766	766	T -> R (in WD).
P35670	768	768	P -> H (in WD).
P35670	769	769	M -> I (in WD).
P35670	769	769	M -> R (in WD).
P35670	769	769	M -> V (in WD).
P35670	776	776	L -> P (in WD).
P35670	776	776	L -> V (possible polymorphism).
P35670	778	778	R -> G (in WD).
P35670	778	778	R -> L (in WD; most common mutation; dbSNP:rs28942074).
P35670	778	778	R -> Q (in WD).
P35670	778	778	R -> W (in WD).
P35670	795	795	L -> F (in WD).
P35670	795	795	L -> R (in WD).
P35670	832	832	K -> R (in dbSNP:rs1061472).
P35670	840	840	P -> L (in WD).
P35670	857	857	I -> T (in WD).
P35670	861	861	A -> T (in WD).
P35670	864	864	V -> I.
P35670	869	869	G -> R (in WD).
P35670	869	869	G -> V (in WD).
P35670	874	874	A -> V (in WD).
P35670	875	875	G -> R.
P35670	875	875	G -> V (in WD; requires 2 nucleotide substitutions).
P35670	890	890	V -> M (in WD).
P35670	891	891	G -> V (in WD).
P35670	898	898	Q -> R (in WD).
P35670	918	918	D -> E (in WD).
P35670	918	918	D -> N (in WD).
P35670	919	919	R -> G (in WD).
P35670	919	919	R -> W (in WD).
P35670	921	921	S -> N (in WD).
P35670	933	933	T -> P (in WD).
P35670	935	935	T -> M (in WD).
P35670	943	943	G -> C (in WD).
P35670	943	943	G -> D (in WD).
P35670	943	943	G -> S (in WD; dbSNP:rs28942076).
P35670	949	949	V -> G (in WD).
P35670	952	952	R -> K (in dbSNP:rs732774).
P35670	967	967	I -> F (in WD; dbSNP:rs60003608).
P35670	969	969	R -> Q (in WD).
P35670	971	971	A -> V (in WD).
P35670	974	974	T -> M (in WD).
P35670	975	975	S -> Y (in WD).
P35670	977	977	T -> M (in WD).
P35670	985	985	C -> Y (in WD).
P35670	988	988	G -> R (in WD).
P35670	991	991	T -> M (in WD; dbSNP:rs41292782).
P35670	992	992	P -> H (in WD).
P35670	992	992	P -> L (in WD; common mutation).
P35670	995	995	V -> A.
P35670	996	996	M -> T (in WD).
P35670	1000	1000	G -> R (in WD).
P35670	1003	1003	A -> T (in WD).
P35670	1003	1003	A -> V (in WD).
P35670	1004	1004	Q -> P (in WD).
P35670	1018	1018	A -> V (in WD).
P35670	1029	1029	T -> I (in WD).
P35670	1031	1031	T -> I (in WD).
P35670	1033	1033	T -> A (in WD).
P35670	1033	1033	T -> S (in WD).
P35670	1035	1035	G -> V (in WD).
P35670	1038	1038	R -> K (in WD; dbSNP:rs59959366).
P35670	1041	1041	R -> P (in WD).
P35670	1041	1041	R -> W (in WD; possibly not disease- causing).
P35670	1043	1043	L -> P (in WD).
P35670	1052	1052	P -> L (in WD).
P35670	1061	1061	G -> E (in WD).
P35670	1063	1063	A -> V (in WD; could be a polymorphism).
P35670	1064	1064	E -> A (in WD).
P35670	1064	1064	E -> K (in WD; marked impairment in copper transport).
P35670	1065	1065	A -> P (in WD).
P35670	1068	1068	E -> G (in WD; common mutation).
P35670	1069	1069	H -> Q (in WD; common mutation).
P35670	1083	1083	L -> F (in WD; marked impairment in copper transport).
P35670	1089	1089	G -> E (in WD).
P35670	1089	1089	G -> V (in WD).
P35670	1094	1094	F -> L (in WD).
P35670	1095	1095	Q -> P (in WD).
P35670	1098	1098	P -> R (in WD).
P35670	1099	1099	G -> S (in WD).
P35670	1101	1101	G -> R (in WD).
P35670	1102	1102	I -> T (in WD).
P35670	1104	1104	C -> F (in WD).
P35670	1104	1104	C -> Y (in WD).
P35670	1106	1106	V -> D (in WD; marked impairment in copper transport).
P35670	1106	1106	V -> I (in WD).
P35670	1109	1109	V -> M.
P35670	1111	1111	G -> D (in WD).
P35670	1140	1140	V -> A (in dbSNP:rs1801249).
P35670	1142	1142	Q -> H (in WD).
P35670	1143	1143	T -> N.
P35670	1146	1146	V -> M (in WD).
P35670	1148	1148	I -> T (in WD; dbSNP:rs60431989).
P35670	1149	1149	G -> A (in WD).
P35670	1151	1151	R -> H (in WD).
P35670	1153	1153	W -> C (in WD).
P35670	1153	1153	W -> R (in WD).
P35670	1164	1164	D -> N (in WD).
P35670	1168	1168	A -> S (in WD).
P35670	1169	1169	M -> T (in WD).
P35670	1169	1169	M -> V (in WD; moderate impairment in copper transport).
P35670	1173	1173	E -> G (in WD).
P35670	1173	1173	E -> K (in WD).
P35670	1176	1176	G -> E (in WD).
P35670	1176	1176	G -> R (in WD).
P35670	1183	1183	A -> G (in WD).
P35670	1183	1183	A -> T (in WD; possibly not disease- causing).
P35670	1186	1186	G -> C (in WD).
P35670	1186	1186	G -> S (in WD; possibly not disease- causing).
P35670	1207	1207	H -> R (in dbSNP:rs7334118).
P35670	1213	1213	G -> V (in WD).
P35670	1216	1217	Missing (in WD).
P35670	1216	1216	V -> M (in WD).
P35670	1217	1218	Missing (in WD).
P35670	1220	1220	T -> M (in WD).
P35670	1221	1221	G -> E (in WD).
P35670	1222	1222	D -> N (in WD).
P35670	1222	1222	D -> V (in WD).
P35670	1222	1222	D -> Y (in WD).
P35670	1228	1228	R -> T (in WD).
P35670	1230	1230	I -> V (in WD).
P35670	1232	1232	T -> P (in WD).
P35670	1239	1239	V -> G (in WD).
P35670	1245	1245	P -> S.
P35670	1248	1248	K -> N (in WD).
P35670	1252	1252	V -> I (in WD).
P35670	1255	1255	L -> I (in WD).
P35670	1256	1256	Q -> R (in WD).
P35670	1262	1262	V -> F (in WD).
P35670	1266	1266	G -> R (in WD; common mutation).
P35670	1266	1266	G -> V (in WD).
P35670	1267	1267	D -> A (in WD).
P35670	1267	1267	D -> V (in WD).
P35670	1270	1270	N -> S (in WD).
P35670	1271	1271	D -> N (in WD).
P35670	1273	1273	P -> L (in WD).
P35670	1278	1278	A -> V (in WD; uncertain pathogenicity).
P35670	1279	1279	D -> G (in WD).
P35670	1279	1279	D -> Y (in WD).
P35670	1285	1292	Missing (in WD).
P35670	1287	1287	G -> S (in WD).
P35670	1296	1296	D -> N (in WD).
P35670	1297	1297	V -> I.
P35670	1297	1297	Missing (in WD).
P35670	1305	1305	L -> P (in WD).
P35670	1310	1310	S -> R (in WD).
P35670	1322	1322	R -> P (in WD).
P35670	1327	1327	L -> V (in WD).
P35670	1328	1328	A -> T (in WD).
P35670	1331	1331	Y -> S (in WD).
P35670	1336	1336	I -> T (in WD).
P35670	1341	1341	G -> D (in WD).
P35670	1341	1341	G -> S (in WD).
P35670	1341	1341	G -> V (in WD).
P35670	1352	1352	P -> S (in WD).
P35670	1353	1353	W -> R (in WD).
P35670	1355	1355	G -> C (in WD).
P35670	1355	1355	G -> S (in WD).
P35670	1358	1358	A -> S (in WD).
P35670	1359	1359	M -> I (in WD).
P35670	1363	1363	S -> F (in WD).
P35670	1368	1368	L -> P (in WD).
P35670	1373	1373	L -> P (in WD).
P35670	1373	1373	L -> R (in WD).
P35670	1375	1375	C -> S (in WD).
P35670	1379	1379	P -> S (in WD).
P35670	1407	1407	D -> E.
P35670	1434	1434	T -> M (in WD; dbSNP:rs60986317).
Q64446	1356	1356	M -> V (in tx mice).
Q3L6Z3	41	41	S -> P.
Q3L6Z3	42	42	A -> T.
Q3L6Z3	49	49	N -> K.
Q9MFP7	21	21	V -> M.
P50270	26	26	I -> M (in strain: HW00, HW09, NC37, NC48, TT00 and TT01).
P50270	32	32	M -> I (in strain: HW00, HW09, NC37, NC48, TT00 and TT01).
P50270	34	34	N -> D (in strain: AU023, C167, DSR, DSW, KY007, KY201, KY215, MD106, MD225, RU35 and SC00).
P03928	17	17	L -> P.
P03928	21	21	F -> S.
P03928	28	28	M -> T.
O43861	39	39	S -> G (in dbSNP:rs4078115).
O43861	108	108	R -> Q (in dbSNP:rs34938281).
O43861	504	504	D -> N (in dbSNP:rs36034863).
O43861	732	732	M -> L (in dbSNP:rs585033).
P00842	127	127	F -> S (in oligomycin-resistant mutant).
P00842	127	127	F -> Y (in oligomycin-resistant mutant).
P00842	136	136	F -> Y (in oligomycin-resistant mutant).
P61829	46	46	T -> L (in strain: DS400/A3 and KL14-4A).
P61829	53	53	L -> F (in strain: DS400/A3, DS401 and oligomycin-resistant mutant).
P61829	57	57	L -> V (in oligomycin-resistant mutant and cross-resistance to venturicidin).
P61829	65	65	C -> S (in oligomycin-resistant mutant).
P18260	228	228	A -> L (in strain: cv. CMS89).
P26526	438	438	L -> I (in strain: CC-503).
P25705	32	32	A -> S (in dbSNP:rs2228437).
P25705	223	223	I -> V (in dbSNP:rs2228436).
Q85V24	92	92	L -> I (in strain: cv. H599).
P00829	49	50	Missing (in some mature chains).
Q4VZI5	86	86	T -> R (in strain: cv. Chipper and cv. Baekmibaekdadagi).
P55988	73	74	VI -> AV (in strain: CCUG 17874 / NCTC 11638).
P55988	363	363	V -> I (in strain: CCUG 17874 / NCTC 11638).
P06576	274	274	E -> Q (in dbSNP:rs1042001).
P07891	45	45	N -> D (in strain: CC-2290 / S1 D2 and CC-503).
Q5TC12	62	62	S -> G (in dbSNP:rs11211337).
Q8N5M1	94	94	W -> R (in MT-ATPSD).
P38077	207	207	S -> I (in strain: D273-10B/A1).
P38077	308	308	S -> F (in allele ATP3a).
Q37304	8	8	T -> A (in strain: CC-503).
O63075	49	49	T -> S (in strain: CC-503).
O63075	231	231	N -> G (in strain: CC-503).
P48047	98	98	K -> R (in dbSNP:rs4842).
P22778	4	4	T -> A.
Q6RW13	143	143	A -> V (in dbSNP:rs17875960).
B6UXC7	28	28	A -> T (in strain: MW56, NC335, NC336, NC362, NC740 and NC774).
B6UXC7	109	109	P -> H (in strain: MW38).
B6UXC7	132	132	M -> L (in strain: MW38).
B6UXC7	141	141	E -> V (in strain: MW27).
B6UXC7	144	144	T -> P (in strain: MW11, MW27, MW38, MW56, MW6, MW63, MW9, NC301, NC322, NC335, NC336, NC350, NC357, NC362, NC390, NC397, NC397, NC732, NC740 and NC774).
B6UXC7	151	151	T -> I (in strain: NC358).
B6UXC7	173	173	Q -> H (in strain: MW9 and NC350).
B6UXC7	244	244	D -> N (in strain: NC350).
B6UXC7	284	284	M -> I (in strain: MW11, MW27, MW6 and MW63).
B6UXC7	320	322	TDN -> I (in NC319, NC335 and NC399).
B6UXC7	333	333	D -> E (in strain: MW38, MW9, NC319, NC335, NC336, NC359, NC362 and NC399).
B6UXC7	341	341	H -> N (in strain: MW38, MW9, NC319, NC335, NC336, NC359, NC362 and NC399).
B6UXC7	357	357	Q -> L (in strain: NC304).
B6UXC7	382	382	A -> D (in strain: MW56).
B6UXC7	408	408	V -> A (in strain: NC359 and NC740).
B6UXC7	409	409	H -> Q (in strain: MW56).
B6UXC7	499	499	L -> I (in strain: MW63 and NC306).
B6UXC7	549	549	P -> H (in strain: MW27).
B6UXC7	647	647	F -> Y (in strain: MW11, MW27, MW38, MW6, MW9, NC303, NC304, NC306, NC322, NC335, NC336, NC350, NC390, NC397, NC732, NC740 and NC774).
B6UXC7	657	658	Missing (in strain: MW9).
B6UXC7	664	664	A -> S (in strain: NC304, NC335, NC350, NC397, NC732 and MW9).
B6UXC7	668	669	Missing (in strain: MW11, MW27, MW6, MW9 and NC774).
B6UXC7	713	713	G -> S (in strain: MW9).
B6UXC7	773	773	L -> S (in strain: NC303, NC319 and NC361).
B6UXC7	793	793	A -> T (in strain: MW11, MW27, MW38, MW56, MW9, NC390 and NC740).
B6UXC7	802	802	L -> F (in strain: MW11 and NC390).
B6UXC7	803	803	S -> T (in strain: MW6).
B6UXC7	820	820	S -> P (in strain: MW6).
B6UXC7	831	831	N -> D (in strain: MW27, MW38, MW56, MW63, MW9, NC304, NC322, NC335, NC336, NC357, NC358, NC362, NC397, NC399, NC732 and NC774).
Q9HA30	125	125	K -> Q (in dbSNP:rs11925638).
Q9HA30	240	240	P -> L (in dbSNP:rs35240314).
Q5VV63	989	989	S -> N (in dbSNP:rs1953758).
Q9NTQ3	303	303	D -> A (in dbSNP:rs6107308).
Q9NTQ3	426	426	I -> T (in dbSNP:rs17782078).
Q9NTQ3	1152	1152	R -> K (in dbSNP:rs3886999).
Q9NTQ3	1226	1226	V -> I (in dbSNP:rs12329487).
Q9H0Z1	175	175	G -> E (in ATRX).
Q9H0Z1	178	198	Missing (in ATRX).
Q9H0Z1	179	179	N -> S (in ATRX).
Q9H0Z1	190	190	P -> A (in ATRX).
Q9H0Z1	190	190	P -> L (in ATRX).
Q9H0Z1	190	190	P -> S (in ATRX).
Q9H0Z1	192	192	L -> F (in ATRX).
Q9H0Z1	194	194	V -> I (in ATRX).
Q9H0Z1	200	200	C -> S (in ATRX).
Q9H0Z1	219	219	Q -> P (in ATRX).
Q9H0Z1	220	220	C -> R (in ATRX).
Q9H0Z1	220	220	C -> Y (in MRXSHF1).
Q9H0Z1	222	222	W -> S (in ATRX).
Q9H0Z1	243	243	C -> F (in ATRX).
Q9H0Z1	246	246	R -> C (in ATRX).
Q9H0Z1	246	246	R -> L (in ATRX).
Q9H0Z1	249	249	G -> C (in ATRX).
Q9H0Z1	249	249	G -> D (in ATRX).
Q9H0Z1	409	409	L -> S (in MRXSHF1).
Q9H0Z1	545	545	Q -> E (in dbSNP:rs35738915).
Q9H0Z1	596	596	P -> S (in dbSNP:rs1051678).
Q9H0Z1	740	740	G -> E (in dbSNP:rs1051680).
Q9H0Z1	929	929	Q -> E (in dbSNP:rs3088074).
Q9H0Z1	1538	1538	V -> G (in ATRX; could be a polymorphism).
Q9H0Z1	1552	1552	V -> F (in ATRX).
Q9H0Z1	1609	1609	H -> R (in ATRX).
Q9H0Z1	1614	1614	C -> R (in ATRX).
Q9H0Z1	1621	1621	T -> M (in ATRX).
Q9H0Z1	1645	1645	L -> S (in ATRX).
Q9H0Z1	1650	1650	K -> N (in ATRX).
Q9H0Z1	1713	1713	P -> S (in ATRX; without alpha- thalassemia).
Q9H0Z1	1742	1742	R -> K (in ATRX; atypical; patients presents spastic paraplegia at birth).
Q9H0Z1	1847	1847	Y -> C (in ATRX).
Q9H0Z1	1860	1860	N -> S (rare polymorphism; dbSNP:rs45439799).
Q9H0Z1	2035	2035	D -> V (in ATRX).
Q9H0Z1	2050	2050	I -> T (in MRXSHF1; originally reported as Carpenter-Waziri syndrome).
Q9H0Z1	2084	2084	Y -> H (in ATRX).
Q9H0Z1	2131	2131	R -> Q (in MRXSHF1; originally reported as Juberg-Marsidi syndrome).
Q9H0Z1	2163	2163	Y -> C (in ATRX).
Q9H0Z1	2271	2271	R -> G (in MRXSHF1).
Q59LR2	803	803	I -> V (in allele CaO19.8870).
Q59LR2	915	915	N -> D (in allele CaO19.8870).
Q59LR2	995	995	E -> D (in allele CaO19.8870).
Q59LR2	1108	1108	S -> Q (in allele CaO19.8870).
Q59LR2	1170	1170	T -> I (in allele CaO19.8870).
Q59LR2	1252	1252	Y -> C (in allele CaO19.8870).
Q59LR2	1523	1523	T -> I (in allele CaO19.8870).
Q59LR2	1601	1601	Q -> K (in allele CaO19.8870).
Q59LR2	1899	1899	L -> F (in allele CaO19.8870).
Q13535	64	64	T -> A (in dbSNP:rs35306038).
Q13535	90	90	H -> Y (in dbSNP:rs28897763).
Q13535	211	211	M -> T (in dbSNP:rs2227928).
Q13535	297	297	K -> N (in dbSNP:rs2229033).
Q13535	316	316	V -> I (in dbSNP:rs28897764).
Q13535	959	959	V -> M (in dbSNP:rs28910271).
Q13535	1087	1087	Y -> H (in dbSNP:rs34253059).
Q13535	1213	1213	S -> G (in dbSNP:rs34766606).
Q13535	1488	1488	A -> P (in a lung squamous cell carcinoma sample; somatic mutation).
Q13535	1526	1526	I -> V (in dbSNP:rs34124242).
Q13535	1607	1607	S -> N (in dbSNP:rs55724025).
Q13535	1612	1612	N -> S (in dbSNP:rs55894265).
Q13535	2002	2002	A -> G (in a lung adenocarcinoma sample; somatic mutation).
Q13535	2120	2120	G -> A (in dbSNP:rs35134774).
Q13535	2132	2132	Y -> D (in dbSNP:rs28910273).
Q13535	2233	2233	S -> I (in a lung large cell carcinoma sample; somatic mutation).
Q13535	2425	2425	R -> Q (in dbSNP:rs2229032).
Q13535	2434	2434	P -> A (in dbSNP:rs33972295).
Q13535	2438	2438	E -> K (in a breast pleomorphic lobular carcinoma sample; somatic mutation).
Q13535	2537	2537	E -> Q (in a breast infiltrating ductal carcinoma sample; somatic mutation).
Q9H324	25	25	A -> T (in ARWMS; shows consistent and significantly diminished protein secretion).
Q9H324	119	119	R -> Q (in dbSNP:rs3814291).
Q9H324	134	134	T -> S (in dbSNP:rs7255721).
P58397	110	110	Q -> E (in dbSNP:rs16891862).
P58397	1000	1000	R -> Q (in dbSNP:rs13362345).
P58397	1177	1177	W -> R (in dbSNP:rs3813474).
P58397	1495	1495	T -> I (in dbSNP:rs25754).
P58397	1591	1591	S -> P (in dbSNP:rs16891281).
Q76LX8	7	7	R -> W (does not affect protein secretion; dbSNP:rs34024143).
Q76LX8	88	88	V -> M (in TTP; reduces protein secretion and proteolytic activity).
Q76LX8	96	96	H -> D (in TTP).
Q76LX8	102	102	R -> C (in TTP).
Q76LX8	193	193	R -> W (in TTP; low activity).
Q76LX8	196	196	T -> I (in TTP).
Q76LX8	234	234	H -> Q (in TTP).
Q76LX8	250	250	A -> V (in TTP; mild effect on protein secretion; strong reduction of proteolytic activity).
Q76LX8	268	268	R -> P (in TTP; affects protein secretion).
Q76LX8	390	390	W -> C (in TTP).
Q76LX8	398	398	R -> H (in TTP).
Q76LX8	448	448	Q -> E (does not affect protein secretion; normal proteolytic activity; dbSNP:rs2301612).
Q76LX8	456	456	Q -> H (in dbSNP:rs36220239).
Q76LX8	457	457	P -> L (in dbSNP:rs36220240).
Q76LX8	475	475	P -> S (in dbSNP:rs11575933).
Q76LX8	508	508	C -> Y (in TTP; impairs protein secretion).
Q76LX8	528	528	R -> G (in TTP).
Q76LX8	618	618	P -> A (in dbSNP:rs28647808).
Q76LX8	625	625	R -> H (in dbSNP:rs36090624).
Q76LX8	673	673	I -> F (in TTP; impairs protein secretion).
Q76LX8	692	692	R -> C (in TTP).
Q76LX8	732	732	A -> V (in dbSNP:rs41314453).
Q76LX8	740	740	E -> K (in dbSNP:rs36221451).
Q76LX8	900	900	A -> V (in dbSNP:rs685523).
Q76LX8	903	903	S -> L (in a patient with thrombotic thrombocytopenic purpura; probable polymorphism).
Q76LX8	908	908	C -> Y (in TTP; impairs protein secretion).
Q76LX8	951	951	C -> G (in TTP).
Q76LX8	982	982	G -> R (in dbSNP:rs36222275).
Q76LX8	1024	1024	C -> G (in TTP).
Q76LX8	1033	1033	A -> T (in dbSNP:rs28503257).
Q76LX8	1095	1095	R -> W (in a patient with thrombotic thrombocytopenic purpura).
Q76LX8	1123	1123	R -> C (in TTP; impairs protein secretion).
Q76LX8	1213	1213	C -> Y (in TTP).
Q76LX8	1226	1226	T -> I (in dbSNP:rs36222894).
Q76LX8	1239	1239	G -> V (in TTP; impairs protein secretion).
Q76LX8	1336	1336	R -> W (in TTP; impairs protein secretion and proteolytic activity).
Q769J6	1022	1037	WKVLSLGPCSASCGLG -> ALVWEAAPTFAVTRWR (in Adamts13S).
Q769J6	1038	1426	Missing (in Adamts13S).
Q8WXS8	179	179	R -> C (in dbSNP:rs34022601).
Q8WXS8	590	590	P -> L (in dbSNP:rs10823607).
Q8WXS8	937	937	L -> M (in dbSNP:rs12774070).
Q8WXS8	1017	1017	S -> N (in dbSNP:rs10999516).
Q8WXS8	1049	1049	E -> G (in dbSNP:rs4747096).
Q8TE58	623	623	N -> S (in dbSNP:rs11222114).
Q8TE58	770	770	Q -> R (in a colorectal cancer sample; somatic mutation).
Q8TE58	878	878	C -> G (in a colorectal cancer sample; somatic mutation).
Q8TE57	110	110	M -> V (in dbSNP:rs1863968).
Q8TE57	486	486	A -> T (in dbSNP:rs16875054).
Q8TE57	789	789	R -> C (in dbSNP:rs9313105).
Q8TE57	859	859	R -> L (in dbSNP:rs16875122).
Q8TE57	863	863	E -> K (in dbSNP:rs35394775).
Q8TE56	216	216	S -> L (in dbSNP:rs7496668).
Q8TE56	482	482	M -> T (in dbSNP:rs28567966).
Q8TE56	1094	1094	N -> S (in dbSNP:rs2573652).
Q8TE60	191	191	Y -> H (in dbSNP:rs11643211).
Q8TE60	382	382	R -> K (in a colorectal cancer sample; somatic mutation).
Q8TE60	455	455	K -> T (in a colorectal cancer sample; somatic mutation).
Q8TE60	626	626	L -> I (in dbSNP:rs11640912).
Q8TE60	769	769	L -> I (in dbSNP:rs9930984).
Q8TE60	946	946	A -> S (in dbSNP:rs12935394).
Q8TE60	1080	1080	S -> R (in dbSNP:rs35478105).
Q8TE60	1159	1159	S -> T (in dbSNP:rs3743749).
Q8TE59	360	360	L -> I (in a breast cancer sample; somatic mutation).
Q8TE59	582	582	E -> G (in dbSNP:rs10062501).
Q8TE59	1089	1089	Y -> F (in dbSNP:rs11749126).
Q9UHI8	227	227	A -> P (in dbSNP:rs428785).
P59510	876	876	K -> M (in dbSNP:rs7302446).
P59510	1000	1000	R -> H (in dbSNP:rs7297737).
P59510	1273	1273	S -> F (in dbSNP:rs7310011).
O95450	74	74	V -> M (in dbSNP:rs2271211).
O95450	241	241	R -> H (in dbSNP:rs11750821).
O95450	245	245	V -> I (in dbSNP:rs398829).
O95450	331	331	E -> K (in dbSNP:rs17667857).
O95450	665	665	G -> R (in dbSNP:rs35372714).
O95450	827	827	R -> Q (in dbSNP:rs35445112).
O95450	1177	1177	P -> S (in dbSNP:rs1054480).
O15072	138	138	K -> R (in dbSNP:rs788908).
O15072	1074	1074	S -> P (in dbSNP:rs35864003).
O75173	4	4	T -> I (in dbSNP:rs17855814).
O75173	77	77	A -> T (in dbSNP:rs34448954).
O75173	304	304	D -> N (in dbSNP:rs17855813).
O75173	369	369	M -> V (in dbSNP:rs17855812).
O75173	552	552	P -> T (in dbSNP:rs17855815).
O75173	564	564	T -> A (in dbSNP:rs17855816).
O75173	626	626	R -> Q (in dbSNP:rs4233367).
O75173	836	836	R -> K (in dbSNP:rs11807350).
Q9UNA0	138	138	A -> G (in dbSNP:rs457947).
Q9UNA0	614	614	R -> H (in dbSNP:rs2830585).
Q9UNA0	692	692	P -> L (in dbSNP:rs226794).
Q9UKP4	214	214	S -> P (in dbSNP:rs3825807).
Q9UKP4	307	307	T -> M (in dbSNP:rs2127898).
Q9UKP4	1319	1319	T -> A (in dbSNP:rs11630236).
Q9UKP4	1414	1414	G -> S (in dbSNP:rs2929155).
Q9UKP4	1583	1583	G -> A (in dbSNP:rs7495616).
Q9P2N4	96	96	S -> P (in dbSNP:rs36115950).
Q9P2N4	96	96	S -> T (in dbSNP:rs36115950).
Q9P2N4	1579	1579	K -> E (in dbSNP:rs17071010).
Q9P2N4	1674	1674	D -> E (in dbSNP:rs6787633).
Q9P2N4	1740	1740	K -> R (in dbSNP:rs17070967).
Q9P2N4	1791	1791	E -> Q (in dbSNP:rs3796381).
Q9P2N4	1921	1921	K -> E (in dbSNP:rs17070909).
Q9P2N4	1933	1933	R -> Q (in dbSNP:rs17070905).
Q9V751	108	108	A -> D (in strain: 2CPA-7).
Q9V751	138	138	Q -> P (in strain: 2CPA-122).
Q9GPI4	27	45	Missing (in strain: Berkeley).
Q9GPI4	165	165	G -> E (in strain: Berkeley).
P17735	70	70	N -> D (in dbSNP:rs16973344).
P17735	362	362	G -> V (in TYRO2; dbSNP:rs28934277).
P0C7T5	313	313	S -> P (in dbSNP:rs7194407).
P54253	209	209	H -> Q (in dbSNP:rs11969612).
P54253	753	753	P -> S (in dbSNP:rs16885).
Q8SWR8	381	381	K -> R (in RNA edited version).
Q8SWR8	398	398	K -> R (in RNA edited version).
Q99700	107	107	L -> V (in dbSNP:rs695871).
Q99700	248	248	S -> N (in dbSNP:rs7969300).
Q9H3M9	266	266	L -> F (in dbSNP:rs16999010).
Q9H3M9	332	332	G -> D (in dbSNP:rs4830842).
Q9H3N0	212	212	V -> M (in dbSNP:rs1048755).
Q9H3N0	306	306	G -> QQQQQQQQQQQQR.
Q9H3N0	349	364	Missing (in allele MJD1a).
O15265	264	264	K -> R (in dbSNP:rs1053338).
O15265	573	573	I -> V (in dbSNP:rs3733124).
O15265	663	663	P -> S (in dbSNP:rs1053340).
O15265	862	862	V -> M (in dbSNP:rs3774729).
Q44636	75	75	L -> LL (in strain: UM23-1).
Q44636	387	387	F -> Y (in strain: UM23-1).
Q9H1Z8	52	52	A -> T (in dbSNP:rs10187689).
Q13825	240	240	A -> V (in MGA1).
Q96GD4	52	52	A -> V.
Q96GD4	100	100	H -> Q (in dbSNP:rs3027254).
Q96GD4	179	179	T -> M.
Q96GD4	298	298	T -> M (in dbSNP:rs1059476).
Q9UQB9	52	52	G -> E (in a lung adenocarcinoma sample; somatic mutation).
Q9UQB9	148	148	E -> Q (in a lung squamous cell carcinoma sample; somatic mutation).
Q9UQB9	244	244	H -> Q (in a lung adenocarcinoma sample; somatic mutation).
Q8WXX7	303	303	A -> S (in dbSNP:rs2293507).
O75061	671	671	S -> N (in dbSNP:rs4915691).
Q9NQS1	228	228	Q -> R (in dbSNP:rs2241647).
P02701	58	58	I -> T (in about 50% of the molecules).
O75366	204	204	E -> K (in dbSNP:rs2172521).
Q8NBF6	257	257	C -> S (in dbSNP:rs2290213).
Q5T686	41	41	G -> A (in dbSNP:rs2275047).
P27037	258	258	S -> R (in dbSNP:rs34917571).
P27037	306	306	D -> N (in a gastric adenocarcinoma sample; somatic mutation).
Q13705	40	40	R -> H (in HTX4).
Q13705	176	176	P -> R (in dbSNP:rs35882617).
Q13705	459	459	E -> D (in dbSNP:rs500611).
Q13705	494	494	V -> I (in HTX4).
Q8TGE1	1036	1713	Missing (in strain: K701).
Q3ZCQ2	119	119	Q -> R (in dbSNP:rs1054428).
Q3ZCQ2	186	186	R -> W (in dbSNP:rs10971).
Q5VT79	177	177	A -> G (in dbSNP:rs3013886).
O15169	106	106	L -> R (in HCC).
O15169	345	345	P -> L (in HCC).
O15169	425	425	G -> S (in HCC).
O15169	650	650	G -> S (in HCC and in hepatoblastoma).
O15169	841	841	R -> Q (in hepatoblastoma; dbSNP:rs34015754).
Q9Y2T1	50	50	S -> P (in polymorphism associated with increased risk of lung cancer; dbSNP:rs2240308).
Q9UPN4	43	43	V -> I (in dbSNP:rs8067409).
Q9UPN4	70	70	I -> V (in dbSNP:rs8067409).
Q9UPN4	272	272	A -> T (in dbSNP:rs2466773).
Q9UPN4	397	397	A -> T (in dbSNP:rs2659015).
Q9UPN4	473	473	A -> V (in dbSNP:rs2659016).
Q92843	133	133	Q -> R (in dbSNP:rs910332).
Q9HD36	11	11	L -> R (in dbSNP:rs2231292).
Q9HB09	47	47	G -> V (in dbSNP:rs2060263).
Q9BXK5	46	46	I -> R (in dbSNP:rs2587070).
Q9BXK5	46	46	I -> T (in dbSNP:rs2587070).
Q9BXK5	55	55	I -> V (in dbSNP:rs16981016).
Q9BXK5	360	360	P -> S (in dbSNP:rs9306198).
Q5TBC7	90	90	D -> N (in dbSNP:rs1217381).
Q16548	19	19	C -> Y (in dbSNP:rs1138357).
Q16548	39	39	N -> K (in dbSNP:rs1138358).
Q16548	82	82	G -> D (in dbSNP:rs3826007).
Q16548	117	117	E -> D (in dbSNP:rs34080999).
Q9PRF8	3	3	L -> R (in a1).
Q9PRF8	54	54	H -> Q (in b1).
Q9PRF8	112	115	EATR -> GAKS (in b1 and b2).
O77537	24	24	A -> T (in strain: Isolate AoAz2).
O77528	3	3	R -> L (in strain: Isolate specimen 1580).
O77528	8	8	A -> S (in strain: Isolate specimen 1580).
P21611	96	96	S -> G.
P61769	11	11	A -> P (in hypercatabolic hypoproteinemia; lower levels of B2M, MHC class I and FCGRT proteins).
P01887	8	8	V -> I (in allele W3).
P01887	54	54	H -> Q (in allele W4).
P01887	64	64	K -> E (in allele W3).
P01887	101	101	R -> T (in allele W2).
P01887	105	105	D -> A (in allele B).
P01887	105	105	D -> V (in allele W2, allele W4 and allele W5).
P04920	26	26	G -> E (in dbSNP:rs2303929).
P04920	202	202	E -> V (in dbSNP:rs2229551).
P04920	208	208	S -> T (in dbSNP:rs2229552).
P04920	311	311	R -> W (in dbSNP:rs35016052).
P04920	1204	1204	L -> F (in dbSNP:rs34918764).
P48751	157	157	P -> H (in dbSNP:rs597306).
P48751	226	226	S -> L (in dbSNP:rs36068948).
P48751	867	867	A -> D (in dbSNP:rs635311).
P02730	27	27	P -> H (in dbSNP:rs55777403).
P02730	38	38	D -> A (in dbSNP:rs5035).
P02730	40	40	E -> K (in hemolytic anemia; Montefiore; dbSNP:rs45562031).
P02730	45	45	D -> E (in dbSNP:rs34700496).
P02730	56	56	K -> E (in Di(a)/Memphis-II antigen; dbSNP:rs5036).
P02730	68	68	E -> K (in dbSNP:rs13306787).
P02730	72	72	E -> D.
P02730	73	73	L -> M.
P02730	90	90	E -> K (in SPH4; Cape Town; dbSNP:rs28929480).
P02730	112	112	R -> S (in dbSNP:rs5037).
P02730	130	130	G -> R (in SPH4; Fukoka).
P02730	147	147	P -> S (in SPH4; Mondego).
P02730	285	285	A -> D (in SPH4; Boston).
P02730	327	327	P -> R (in SPH4; Tuscaloosa; dbSNP:rs28931583).
P02730	400	408	Missing (in EL4).
P02730	429	429	E -> D (in NFLD+ antigen).
P02730	432	432	R -> W (in ELO antigen).
P02730	442	442	I -> F (in dbSNP:rs5018).
P02730	455	455	G -> E (in SPH4; Benesov).
P02730	455	455	G -> R (in SPH4; Yamagata).
P02730	480	480	E -> K (in FR(a+) antigen).
P02730	488	488	V -> M (in SPH4; Coimbra; also in dRTA autosomal recessive form; dbSNP:rs28931584).
P02730	490	490	R -> C (in SPH4; Bicetre I).
P02730	490	490	R -> H (in SPH4; Pinhal).
P02730	508	508	E -> K (in dbSNP:rs45568837).
P02730	518	518	R -> C (in SPH4; Dresden).
P02730	548	548	P -> L (in RB(A) antigen).
P02730	551	551	K -> N (in TR(A) antigen).
P02730	552	552	T -> I (in WARR antigen).
P02730	555	555	Y -> H (in VG(a) antigen).
P02730	557	557	V -> M (in WD(a) antigen).
P02730	561	561	P -> A (in NFLD+ antigen).
P02730	561	561	P -> S (in BOW antigen).
P02730	565	565	G -> A (in WU antigen).
P02730	566	566	P -> A (in KREP antigen).
P02730	566	566	P -> S (in PN(a) antigen).
P02730	569	569	N -> K (in BP(a) antigen).
P02730	586	586	M -> L (in dbSNP:rs5019).
P02730	589	589	R -> C (in dRTA; autosomal dominant form; reduced red cell sulfate transport and altered glycosylation of the red cell band 3 N-glycan chain).
P02730	589	589	R -> H (in dRTA; autosomal dominant form).
P02730	589	589	R -> S (in dRTA; autosomal dominant form).
P02730	602	602	R -> P (in dRTA; autosomal recessive form; with hemolytic anemia).
P02730	609	609	G -> R (in dRTA; autosomal dominant form; detected subapically and at the apical membrane as well as at the basolateral membrane in contrast to the normal basolateral appearance of wild-type protein).
P02730	613	613	S -> F (in dRTA; autosomal dominant form; markedly increased red cell sulfate transport but almost normal red cell iodide transport).
P02730	646	646	R -> Q (in SW(a+) antigen).
P02730	646	646	R -> W (in SW(a+) antigen).
P02730	656	656	R -> C (in HG(a) antigen).
P02730	656	656	R -> H (in MO(a) antigen).
P02730	658	658	E -> K (in WR(a) antigen).
P02730	663	663	M -> K (in SPH4; Tambau).
P02730	663	663	Missing (in SPH4; Osnabruck II).
P02730	687	687	L -> P (in SPH4).
P02730	688	688	I -> V (in dbSNP:rs5022).
P02730	690	690	S -> G (in dbSNP:rs5023).
P02730	701	701	G -> D (in dRTA; autosomal recessive form).
P02730	705	705	D -> Y (in SPH4).
P02730	707	707	L -> P (in SPH4; Most).
P02730	714	714	G -> R (in SPH4; Okinawa).
P02730	731	731	S -> P (in SPH4).
P02730	734	734	H -> R (in SPH4).
P02730	760	760	R -> Q (in SPH4; Prague II).
P02730	760	760	R -> W (in SPH4; Hradec Kralove).
P02730	771	771	G -> D (in SPH4; Chur).
P02730	773	773	S -> P (in dRTA; autosomal recessive form; with normal red cell morphology).
P02730	783	783	I -> N (in SPH4; Napoli II).
P02730	808	808	R -> C (in SPH4; Jablonec).
P02730	808	808	R -> H (in SPH4; Nara).
P02730	832	832	R -> H (in dbSNP:rs5025).
P02730	834	834	H -> P (in SPH4; Birmingham).
P02730	837	837	T -> A (in SPH4; Tokyo).
P02730	837	837	T -> M (in SPH4; Philadelphia).
P02730	837	837	T -> R (in SPH4; Nagoya).
P02730	850	850	Missing (in dRTA; autosomal recessive form).
P02730	854	854	P -> L (in Di(a)/Memphis-II antigen; dbSNP:rs2285644).
P02730	858	858	A -> D (in dRTA; autosomal dominant form).
P02730	862	862	V -> I (in dbSNP:rs5026).
P02730	868	868	P -> L (in acanthocytosis; due to band 3 high transport).
P02730	870	870	R -> W (in SPH4; Prague III; dbSNP:rs28931585).
Q9P2W7	131	131	A -> T (in dbSNP:rs35434644).
O75752	126	126	D -> N (in dbSNP:rs2231257).
O75752	266	266	E -> A (in an French with P2(k) phenotype; dbSNP:rs28937582).
O75752	271	271	G -> R (in an English with P1(k) phenotype).
Q920V1	4	4	A -> T (in strain: NJL/Msf, BLG2/Msf, MSM/Msf and SWN/Msf).
Q920V1	87	87	R -> H (in strain: SWN/Msf).
Q920V1	128	128	T -> M (in strain: CAST/Ei).
Q8NCR0	203	203	N -> S (in a breast cancer sample; somatic mutation).
Q6Y288	370	370	E -> K (in dbSNP:rs1041073).
O43505	253	253	T -> S (in dbSNP:rs35429253).
Q9Y2A9	328	328	H -> R (in dbSNP:rs36686).
Q9C0J1	6	6	P -> A (in dbSNP:rs7136356).
Q9C0J1	83	83	S -> T (in dbSNP:rs1001178).
Q9C0J1	87	87	L -> P (in dbSNP:rs35203505).
Q8NFL0	233	233	V -> I (in dbSNP:rs2290130).
Q7Z7M8	137	137	S -> G (in dbSNP:rs284662).
Q67FW5	341	341	A -> T (in dbSNP:rs7225887).
O54904	12	12	T -> S (in strain: 129/SvJ).
O54905	44	44	N -> S (in strain: HMI/Msf).
O54905	86	86	V -> A (in strain: BLG2/Msf, MSM/Msf, SWN/Msf and NJL/Msf).
O54905	88	88	P -> S (in strain: BLG2/Msf and NJL/Msf).
O54905	100	100	S -> T (in strain: CAST/Ei and HMI/Msf).
O54905	124	124	N -> D (in strain: BLG2/Msf, NJL/Msf, MSM/Msf and SWN/Msf).
Q9Z0F0	248	248	W -> R (in strain: pgn2).
Q9Z0F0	344	344	G -> W (in strain: BLG2/Msf).
Q9Y2C3	27	27	S -> R (in dbSNP:rs12627708).
Q9Y2C3	85	85	M -> T (in dbSNP:rs3746887).
Q9Y2C3	144	144	R -> H (in dbSNP:rs734411).
Q96L58	174	174	E -> D (in dbSNP:rs12085009).
Q00973	35	35	L -> V (in dbSNP:rs774896).
Q00973	172	172	G -> R (in dbSNP:rs810205).
Q00973	516	516	A -> V (in dbSNP:rs17454674).
Q8NHY0	40	40	A -> D (in dbSNP:rs7207403).
Q8NHY0	459	459	P -> H (in a colorectal cancer sample; somatic mutation).
Q8NHY0	466	466	C -> R (in dbSNP:rs7224888).
Q6L9W6	59	59	G -> S (in dbSNP:rs2075033).
Q6L9W6	265	265	R -> Q (in dbSNP:rs11063529).
Q6L9W6	411	411	K -> R (in dbSNP:rs7298766).
Q6L9W6	768	768	R -> Q (in dbSNP:rs11063570).
Q6L9W6	992	992	R -> H (in dbSNP:rs36078145).
Q76KP1	67	67	A -> V (in dbSNP:rs34063493).
Q76KP1	88	88	G -> V (in dbSNP:rs11822725).
P15291	21	21	R -> W (in dbSNP:rs1065764).
P15291	257	257	H -> R (in dbSNP:rs9169).
O60909	122	122	Q -> H (in dbSNP:rs1859728).
O60909	338	338	G -> R (in dbSNP:rs35904809).
O60513	116	116	Q -> E (in dbSNP:rs3764779).
O43286	61	61	G -> S (in dbSNP:rs2273086).
O43286	368	368	D -> N (in dbSNP:rs235035).
O43286	371	371	Y -> D (in dbSNP:rs35195217).
Q9UBX8	379	379	I -> V (in dbSNP:rs34683195).
Q9UBV7	186	186	A -> D (in EDSP).
Q9UBV7	206	206	L -> P (in EDSP).
Q9BPU9	11	11	I -> M (in dbSNP:rs2241714).
Q5JSZ5	417	417	M -> V (in dbSNP:rs34553878).
Q5JSZ5	936	936	S -> T (in dbSNP:rs10736851).
Q5JSZ5	981	981	L -> P (in dbSNP:rs10751478).
Q9UF29	235	235	A -> T (in dbSNP:rs10913157).
Q9UF29	343	343	N -> K (in dbSNP:rs36013361).
Q9UF29	468	468	E -> G (in dbSNP:rs704839).
Q9UF29	906	906	T -> A (in dbSNP:rs760644).
Q9UF29	959	959	P -> S (in dbSNP:rs34269512).
Q9UF29	1624	1624	S -> C (in dbSNP:rs235468).
Q9UF29	1771	1771	P -> S (in dbSNP:rs1687056).
Q9UF29	1868	1868	L -> R (in dbSNP:rs3820169).
Q9UF29	1885	1885	A -> T (in dbSNP:rs12025905).
Q9UF29	1924	1924	P -> R (in dbSNP:rs183523).
Q9UF29	2718	2718	T -> A (in dbSNP:rs2421847).
Q8WXS3	164	164	S -> T (in dbSNP:rs34542607).
Q9UFA3	20	20	R -> G (in dbSNP:rs17856488).
Q9UFA3	737	737	R -> W (in dbSNP:rs60152725).
Q14032	20	20	R -> Q (in dbSNP:rs1572983).
Q14032	76	76	M -> V (in FHCA; dbSNP:rs28937579).
P56817	265	265	V -> A.
P56817	481	481	C -> R (in dbSNP:rs539765).
O14867	314	314	S -> P (in dbSNP:rs35474725).
Q9BYV9	418	418	A -> T (in dbSNP:rs34335140).
P16102	229	229	V -> A (in strain: D2).
P28237	412	412	E -> D.
Q92934	107	107	A -> S (in dbSNP:rs3729933).
Q9H503	3	3	N -> D (in dbSNP:rs4814640).
Q9H503	78	78	T -> S (in dbSNP:rs1053993).
O95817	71	71	R -> Q (in dbSNP:rs35434411).
O95817	151	151	C -> R (in dbSNP:rs2234962).
O95817	209	209	P -> L (in MFM-BAG3).
O95817	405	405	A -> V (in dbSNP:rs11199064).
O95817	407	407	P -> L (in dbSNP:rs3858340).
Q9UL15	157	157	C -> W (in dbSNP:rs17854644).
Q86Y30	95	95	R -> T (in dbSNP:rs2740327).
Q86Y30	106	106	R -> Q (in dbSNP:rs9808647).
Q86Y29	95	95	R -> T (in dbSNP:rs2740327).
Q86Y29	106	106	Q -> R (in dbSNP:rs9808647).
Q9VDA6	62	62	I -> A (in strain: F-96S, F-274F, S-26F, S-94F, S-377F, S-510S, S-521F, S-521S, S- 565F, S-968F and US-255F).
Q9VDA6	62	62	I -> V (in strain: F-775F, S-549S and S- 1224F).
Q9VDA6	74	74	G -> S (in strain: F-775F, S-549S and S- 1224F).
Q9VDA6	327	327	T -> N (in strain: S-26F, S-94F, S-438S, S-510S and S-521F).
Q9VDA6	342	342	G -> S (in strain: S-26F, S-94F, S-438S, S-510S and S-521F).
Q9VDA6	367	367	S -> SGAES (in strain: S-521S, S-968F and US-255F).
Q9VDA6	369	369	H -> Q (in strain: F-611F).
Q9P281	272	272	A -> T (in dbSNP:rs12952981).
Q9P281	1137	1137	T -> A (in dbSNP:rs7213444).
Q9P281	1267	1267	T -> A (in dbSNP:rs7213444).
Q9P281	1403	1403	R -> Q (in dbSNP:rs35572189).
Q9P281	1647	1647	T -> A (in dbSNP:rs12601317).
Q9P281	1998	1998	V -> I (in dbSNP:rs34680524).
Q9P281	2479	2479	R -> C (in dbSNP:rs8746).
Q8TBE0	26	26	E -> G (in dbSNP:rs3743143).
Q8TBE0	182	182	D -> H (in dbSNP:rs17856679).
Q8TBE0	298	298	Q -> K (in dbSNP:rs3803357).
O60242	503	503	S -> N (in dbSNP:rs1932618).
Q9UQB8	519	519	Q -> R (in dbSNP:rs4969391).
O94812	582	582	D -> A (in dbSNP:rs1132356).
O94812	879	879	S -> I (in dbSNP:rs36074509).
Q6ZNE5	59	59	V -> I (in dbSNP:rs57295720).
Q6ZNE5	131	131	N -> K (in dbSNP:rs17675076).
Q16611	28	28	A -> V (in dbSNP:rs4987115).
Q16611	42	42	R -> H (in dbSNP:rs1051911).
Q16611	69	69	S -> R (in dbSNP:rs5745592).
Q2PNS8	45	45	C -> S (in strain: Wpg6, Wpg8 and Wpg12).
Q2PNS8	54	54	G -> D (in strain: Zim10).
Q2PNS8	239	239	A -> S (in strain: fs(3)Neo61, Wpg1, Wpg10, Wpg16, Wpg2, Wpg3, Zim10, Zim18, Zim32 and Zim35).
Q2PNS8	243	243	F -> Y (in strain: Wpg4).
Q2PNS8	394	394	P -> R (in strain: Zim10).
Q8NDB2	61	61	R -> H (influences susceptibility to SLE; dbSNP:rs10516487).
Q8NDB2	383	383	A -> T (influences susceptibility to SLE; dbSNP:rs3733197).
Q8NDB2	650	650	R -> C (in dbSNP:rs3113676).
Q9SEV0	340	340	K -> KES (in strain: cv. Wassilewskija).
Q92560	95	95	A -> D (in a lung cancer sample; impairs deubiquitinase activity).
Q92560	178	178	G -> V (in a lung cancer sample; impairs deubiquitinase activity).
Q92560	616	616	V -> E (in dbSNP:rs35353781).
P02849	40	40	N -> K (in clone PCT21).
P02849	57	57	G -> E (in clone PCT21).
P02849	72	72	K -> R (in clone PCT21).
P02849	86	86	R -> G (in clone PCT21).
Q99728	24	24	P -> S (common polymorphism in Caucasians; less frequent in Africans; dbSNP:rs1048108).
Q99728	153	153	K -> E.
Q99728	186	186	S -> G (in dbSNP:rs16852741).
Q99728	241	241	S -> C (in dbSNP:rs3738885).
Q99728	378	378	R -> S (in dbSNP:rs2229571).
Q99728	507	507	V -> M (in dbSNP:rs2070094).
Q99728	557	557	C -> S (rare polymorphism in Caucasians; dbSNP:rs28997576).
Q99728	564	564	Q -> H (in an ovarian clear cell adenocarcinoma).
Q99728	645	645	C -> R (in dbSNP:rs34744268).
Q99728	658	658	R -> C (rare polymorphism in Caucasians; absent in Africans; dbSNP:rs3738888).
Q99728	695	695	V -> L (in a breast cancer sample; somatic mutation).
Q99728	728	728	S -> F (in dbSNP:rs13389423).
Q99728	761	761	S -> N (in an uterine cancer sample; somatic mutation).
Q9HBU1	48	48	A -> T.
P35613	208	208	E -> K (in Ok(A-)).
P35613	269	269	G -> V (in dbSNP:rs1803203).
P80723	76	76	A -> V (in dbSNP:rs3733748).
P30843	29	29	S -> G (in strain: ECOR 1, ECOR 10, ECOR 11, ECOR 12, ECOR 13, ECOR 14, ECOR 15, ECOR 16, ECOR 17, ECOR 18, ECOR 19, ECOR 2, ECOR 20, ECOR 21, ECOR 22, ECOR 24, ECOR 25, ECOR 26, ECOR 27, ECOR 3, ECOR 30, ECOR 33, ECOR 34, ECOR 35, ECOR 36, ECOR 37, ECOR 38, ECOR 4, ECOR 40, ECOR 41, ECOR 42, ECOR 43, ECOR 44, ECOR 45, ECOR 46, ECOR 47, ECOR 48, ECOR 5, ECOR 50, ECOR 51, ECOR 52, ECOR 53, ECOR 54, ECOR 55, ECOR 56, ECOR 57, ECOR 59, ECOR 6, ECOR 60, ECOR 61, ECOR 62, ECOR 63, ECOR 64, ECOR 65, ECOR 66, ECOR 67, ECOR 68, ECOR 69, ECOR 7, ECOR 70, ECOR 71, ECOR 72, ECOR 8 and ECOR 9).
P30843	31	31	T -> S (in strain: ECOR 35, ECOR 36, ECOR 38, ECOR 40, ECOR 41, ECOR 51, ECOR 52, ECOR 53, ECOR 54, ECOR 55, ECOR 56, ECOR 57, ECOR 59, ECOR 60, ECOR 61, ECOR 62, ECOR 63 and ECOR 64, ECOR 65 and ECOR 66).
P30843	128	128	I -> N (in strain: ECOR 51, ECOR 52, ECOR 53, ECOR 54, ECOR 55, ECOR 56, ECOR 57, ECOR 59, ECOR 60, ECOR 61, ECOR 62, ECOR 63 and ECOR 64).
P30843	129	129	V -> L (in strain: ECOR 19).
P30843	144	144	G -> S (in strain: ECOR 44, ECOR 48, ECOR 50, ECOR 51, ECOR 52, ECOR 53, ECOR 54, ECOR 55, ECOR 56, ECOR 57, ECOR 59, ECOR 60, ECOR 61, ECOR 62, ECOR 63, ECOR 64 and ECOR 72).
P30843	207	207	R -> P (in strain: ECOR 27).
P30843	214	214	Y -> F (in strain: ECOR 27).
P36556	81	81	H -> R (in strain: LT2 / SGSC1412 and S4194; resistance to polymyxin B and neutrophil proteins).
P82251	10	10	Missing (in CSNU).
P82251	44	44	I -> T (in CSNU; type I).
P82251	52	52	P -> L (in CSNU).
P82251	63	63	G -> R (in CSNU).
P82251	69	69	W -> L (in CSNU).
P82251	70	70	A -> V (in CSNU; mild loss of amino acid transport activity).
P82251	105	105	G -> R (in CSNU; type III; frequent mutation; severe loss of amino acid transport activity).
P82251	123	123	T -> M (in CSNU).
P82251	126	126	A -> T (in CSNU).
P82251	142	142	V -> A (in dbSNP:rs12150889).
P82251	158	158	A -> AA (in CSNU).
P82251	170	170	V -> M (in CSNU; type III; frequent mutation; complete loss of amino acid transport activity).
P82251	182	182	A -> T (in CSNU; type III; frequent mutation; mild loss of amino acid transport activity).
P82251	187	187	I -> F (in CSNU).
P82251	193	193	I -> II (in CSNU).
P82251	195	195	G -> R (in CSNU; type III).
P82251	223	223	L -> M (in dbSNP:rs1007160).
P82251	224	224	A -> V (in CSNU; non-classic type I).
P82251	230	230	W -> R (in CSNU).
P82251	241	241	I -> T (in CSNU).
P82251	244	244	Missing (in CSNU).
P82251	259	259	G -> R (in CSNU; type III).
P82251	261	261	P -> L (in CSNU; types I and III).
P82251	330	330	V -> M (in CSNU; type III).
P82251	331	331	A -> V (in CSNU; non-classic type I).
P82251	333	333	R -> W (in CSNU; frequent mutation; severe loss of amino acid transport activity).
P82251	354	354	A -> T (in CSNU; type III; severe loss of amino acid transport activity).
P82251	379	379	S -> R (in CSNU).
P82251	382	382	A -> T (in CSNU).
Q5ST84	57	57	P -> R (in dbSNP:rs1062968).
Q5ST84	82	82	D -> V (in dbSNP:rs6921213).
Q5ST84	106	106	P -> L (in dbSNP:rs2280801).
Q5ST84	477	477	R -> C (in dbSNP:rs17857493).
Q5ST84	544	544	T -> K (in dbSNP:rs1046080).
Q5ST84	694	694	Q -> K (in dbSNP:rs2844469).
Q5ST84	742	742	D -> E (in dbSNP:rs1046081).
Q5ST84	804	804	R -> C (in dbSNP:rs11538262).
Q5ST84	1087	1087	T -> I (in a breast cancer sample; somatic mutation).
Q5ST84	1152	1152	R -> H (in a breast cancer sample; somatic mutation).
Q5ST84	1285	1285	G -> A (in dbSNP:rs2736158).
Q5ST84	1407	1407	S -> N (in dbSNP:rs35464047).
Q5ST84	1415	1415	G -> A (in dbSNP:rs2857703).
Q5ST84	1503	1503	L -> P (in dbSNP:rs2272593).
Q5ST84	1544	1544	G -> D (in dbSNP:rs34175432).
Q5ST84	1563	1563	R -> Q (in dbSNP:rs11538263).
Q5ST84	1740	1740	R -> H (in dbSNP:rs1046089).
Q5ST84	1744	1744	G -> A (in dbSNP:rs2844491).
Q5ST84	1774	1774	V -> M (in dbSNP:rs11538264).
Q5ST84	1775	1775	V -> M (in dbSNP:rs11538264).
Q5ST84	1895	1895	L -> V (in dbSNP:rs3132453).
Q5ST84	2006	2006	P -> S (in dbSNP:rs10885).
Q5ST84	2075	2075	R -> W (in dbSNP:rs34137317).
Q5ST84	2130	2130	P -> L (in dbSNP:rs1046756).
Q5STX1	625	625	S -> P (in dbSNP:rs1052486).
Q5STX1	728	728	A -> V (in dbSNP:rs11548856).
O95872	41	41	R -> L (in dbSNP:rs3130618).
O95872	112	112	A -> V (in dbSNP:rs35265780).
O95872	210	210	S -> A (in dbSNP:rs34082689).
O95872	235	235	A -> V (in dbSNP:rs2295666).
Q8N1L9	6	6	G -> S (in dbSNP:rs12419103).
Q9NR55	11	11	V -> I (in dbSNP:rs2202683).
P0C8I9	8	8	N -> P.
P0C8I9	9	9	H -> Y.
P0C8I9	20	20	W -> G.
Q9UCZ6	11	11	G -> E (in a plasmacytoma cell line).
Q9UCZ6	39	39	G -> R (in dbSNP:rs36017265).
Q9UCZ6	67	67	G -> R (in a T-cell acute lymphoblastic leukemia cell line; loss of heterodimerization with Bcl-2 or Bcl- X(L)).
Q9UCZ6	108	108	G -> V (in a Burkitt lymphoma; loss of homodimerization).
Q9NRL2	344	344	D -> E (in dbSNP:rs1133285).
Q9NRL2	1366	1366	N -> K (in dbSNP:rs1044140).
Q9UIF9	498	498	V -> E (in dbSNP:rs2230579).
Q9UIF8	71	71	M -> T (in dbSNP:rs10202670).
Q9UIF8	422	422	L -> S (in dbSNP:rs3213790).
Q9UIF8	530	530	P -> L (in dbSNP:rs3732287).
Q9UIF8	702	702	G -> V (in dbSNP:rs2302924).
Q9UIF8	2024	2024	S -> N (in dbSNP:rs415793).
Q14U76	206	206	A -> T (in strain: BM12987 / O24).
Q14U76	207	207	I -> T (in strain: 80s-2 and BM12987 / O24).
Q14U76	329	329	H -> E (in strain: BM12987 / O24).
Q14U76	595	595	T -> S (in strain: BM12987 / O24).
Q14U76	599	599	E -> D (in strain: 80s-2).
Q14U76	616	616	D -> V (in strain: BM12987 / O24).
Q14U76	698	698	I -> N (in strain: 80s-2).
Q14U76	876	876	R -> H (in strain: BM12987 / O24).
Q14U76	967	967	D -> E (in strain: BM12987 / O24).
Q14U76	990	990	S -> SESDSDSESDSDSDSDSDSDSDS (in strain: BM12987 / O24).
Q14U76	1089	1089	D -> DSDSDSD (in strain: 80s-2).
Q8TAM1	34	34	R -> P (in BBS10; has moderately reduced ability to interact with BBS7 and BBS9).
Q8TAM1	49	49	R -> W (in BBS10; has moderately reduced ability to interact with BBS7 and BBS9).
Q8TAM1	91	91	C -> W (in BBS10; has moderately reduced ability to interact with BBS7 and BBS9).
Q8TAM1	170	170	L -> S (in BBS10).
Q8TAM1	195	195	C -> W (in BBS10).
Q8TAM1	197	197	Y -> C (in BBS10).
Q8TAM1	240	240	V -> G (in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12 (8% of wild-type)).
Q8TAM1	308	308	L -> F (in BBS10; has moderately reduced ability to interact with BBS7 and BBS9).
Q8TAM1	311	311	S -> A (in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12 (19% of wild-type)).
Q8TAM1	329	329	S -> L (in BBS10; has moderately reduced ability to interact with BBS7 and BBS9; severely reduces the interaction with BBS12 (15% of wild-type)).
Q8TAM1	363	363	P -> L (in BBS10; has moderately reduced ability to interact with BBS7 and BBS9).
Q8TAM1	376	376	L -> F (in dbSNP:rs11109474).
Q8TAM1	414	414	L -> S (in BBS10).
Q8TAM1	539	539	P -> L (in dbSNP:rs35676114).
Q8TAM1	579	579	K -> R (in BBS10).
Q8TAM1	613	613	Y -> C (in BBS10).
Q8TAM1	613	613	Y -> H (in BBS10; has moderately reduced ability to interact with BBS7 and BBS9).
Q8TAM1	677	677	G -> V (in BBS10; has moderately reduced ability to interact with BBS7 and BBS9).
Q8TAM1	689	689	T -> P (in BBS10; has moderately reduced ability to interact with BBS7 and BBS9).
Q6ZW61	39	39	I -> T.
Q6ZW61	113	113	Missing (in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation).
Q6ZW61	126	126	E -> D (in dbSNP:rs309369).
Q6ZW61	159	159	P -> L (in BBS12; pathogenicity uncertain; significantly reduces the interaction with MKKS; the interaction with BBS10 is not affected by this mutation).
Q6ZW61	170	170	I -> V.
Q6ZW61	195	195	K -> R (in dbSNP:rs17854892).
Q6ZW61	238	238	N -> K (in dbSNP:rs17006082).
Q6ZW61	289	289	A -> P (in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation).
Q6ZW61	346	346	I -> T (in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation).
Q6ZW61	386	386	R -> Q (in dbSNP:rs309370).
Q6ZW61	429	429	S -> T (in dbSNP:rs7665271).
Q6ZW61	461	461	N -> H (in dbSNP:rs10027479).
Q6ZW61	467	467	D -> N (in dbSNP:rs13135778).
Q6ZW61	484	484	R -> K (in dbSNP:rs35690634).
Q6ZW61	501	501	T -> M (in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation).
Q6ZW61	540	540	G -> V (in BBS12; significantly reduces the interaction with MKKS; shows significantly decreased interaction with BBS7; the interaction with BBS10 is not affected by this mutation).
Q6ZW61	615	615	A -> V (in dbSNP:rs17857451).
Q8NFJ9	35	35	H -> R (in BBS1).
Q8NFJ9	53	53	K -> E (in BBS1).
Q8NFJ9	148	148	D -> N (in BBS1).
Q8NFJ9	160	160	R -> Q (in BBS1).
Q8NFJ9	200	201	Missing (in BBS1).
Q8NFJ9	234	234	E -> K (in BBS1; dbSNP:rs35520756).
Q8NFJ9	305	305	G -> S (in BBS1).
Q8NFJ9	389	389	Missing (in BBS1).
Q8NFJ9	390	390	M -> R (in BBS1).
Q8NFJ9	434	434	Y -> S (in BBS1).
Q8NFJ9	503	503	L -> H (in BBS1).
Q8NFJ9	518	518	L -> P (in BBS1).
Q8NFJ9	518	518	L -> Q (in BBS1).
Q9BXC9	23	23	R -> P (in BBS2).
Q9BXC9	70	70	N -> S (in BBS2; dbSNP:rs4784677).
Q9BXC9	75	75	V -> G (in BBS2; in linkage disequilibrium with V-123 in a Bedouin kindred).
Q9BXC9	104	104	D -> A (in BBS2).
Q9BXC9	122	122	A -> V (in dbSNP:rs17856449).
Q9BXC9	123	123	I -> V (polymorphism in linkage disequilibrium with G-75 in a Bedouin kindred; dbSNP:rs11373).
Q9BXC9	174	174	D -> E (in BBS2).
Q9BXC9	315	315	R -> Q (in BBS2).
Q9BXC9	315	315	R -> W (in BBS2).
Q9BXC9	349	349	L -> W (in BBS2; has a modifier effect on BBS).
Q9BXC9	504	504	A -> V (in dbSNP:rs16957538).
Q9BXC9	558	558	T -> I (in BBS2).
Q9BXC9	632	632	R -> P (in BBS2).
Q9BXC9	643	643	R -> H (in BBS2).
Q96RK4	46	46	K -> R.
Q96RK4	165	165	N -> H (in BBS4).
Q96RK4	268	268	E -> K (in dbSNP:rs11638283).
Q96RK4	295	295	R -> P (in BBS4).
Q96RK4	327	327	L -> P (in BBS4).
Q96RK4	351	351	L -> R (in BBS4).
Q96RK4	354	354	I -> T (in dbSNP:rs2277598).
Q96RK4	364	364	A -> E (in BBS4).
Q96RK4	368	368	D -> G (in BBS4).
Q96RK4	393	393	A -> V (in dbSNP:rs17852452).
Q96RK4	457	457	S -> I (in BBS4).
Q96RK4	472	472	M -> V (in BBS4; dbSNP:rs2277596).
Q96RK4	503	503	P -> L (in BBS4).
Q8N3I7	184	184	N -> S (in BBS5).
Q8N3I7	207	207	R -> H (in BBS5; may have a modifying effect on BBS phenotype; dbSNP:rs35487251).
Q8IWZ6	66	66	I -> F (in BBS7).
Q8IWZ6	211	211	T -> I (in BBS7).
Q8IWZ6	323	323	H -> R (in BBS7).
P53416	2	2	L -> P.
Q8WY36	576	576	P -> S (in dbSNP:rs59781647).
Q8BQJ7	30	30	P -> L (in strain: C3H/He).
Q8BQJ7	281	281	Q -> H (in strain: C3H/He).
Q9H165	142	142	S -> F (in a breast cancer sample; somatic mutation).
Q9C0K0	331	331	S -> P (in a colorectal cancer sample; somatic mutation).
Q99PV8	676	676	K -> T (in gamma induced thymic lymphomas).
Q99PV8	783	783	R -> C (in gamma induced thymic lymphomas).
Q99PV8	849	849	C -> S (in gamma induced thymic lymphomas).
P06001	18	18	Q -> H (in strain: Isolate Puerto Rico- Japan).
Q9NQ31	23	23	R -> K (in dbSNP:rs1133833).
Q9NQ31	132	132	I -> T (in dbSNP:rs35131475).
P50895	77	77	R -> H (defines the Lu(a) antigen; dbSNP:rs28399653).
P50895	196	196	V -> I (in dbSNP:rs28399654).
P50895	204	204	M -> K (in dbSNP:rs28399656).
P50895	282	282	R -> H (in dbSNP:rs9967601).
P50895	381	381	V -> I (in dbSNP:rs28399626).
P50895	451	451	K -> Q (in dbSNP:rs28399630).
P50895	539	539	T -> A (in dbSNP:rs1135062).
P50895	581	581	Q -> L (in dbSNP:rs28399659).
Q6ZUJ8	21	21	E -> K (in dbSNP:rs17112076).
Q6ZUJ8	83	83	A -> S (in dbSNP:rs3748229).
Q6ZUJ8	551	551	E -> K (in dbSNP:rs3748233).
Q6ZUJ8	638	638	K -> R (in dbSNP:rs12784975).
P56945	76	76	P -> S (in dbSNP:rs1035539).
P56945	407	407	S -> T (in a breast cancer sample; somatic mutation).
P56945	491	491	R -> L (in dbSNP:rs16957558).
P56945	558	558	H -> R (in dbSNP:rs16957552).
O75815	464	464	E -> G (in dbSNP:rs12062278).
O75815	593	593	Q -> H (in dbSNP:rs17110107).
O75363	24	24	Q -> K (in dbSNP:rs394732).
O75363	163	163	V -> A (in dbSNP:rs158551).
O75363	255	255	G -> E (in dbSNP:rs6022903).
O75363	472	472	Q -> H (in dbSNP:rs35575210).
O75363	583	583	S -> P (in dbSNP:rs1055246).
Q9H9Y9	106	106	I -> V (in dbSNP:rs34712615).
Q8TDL9	56	56	E -> D (in dbSNP:rs2272962).
Q8TDL9	173	173	R -> H (in dbSNP:rs7273412).
P54687	59	59	T -> M (in dbSNP:rs17374285).
P54687	321	321	E -> K (in dbSNP:rs7313020).
P54687	330	330	G -> S (in dbSNP:rs1057204).
O15382	186	186	T -> R (in dbSNP:rs11548193).
O80517	113	114	RT -> SL (in strain: cv. Landsberg erecta).
Q9P287	254	254	E -> Q (in dbSNP:rs17153610).
Q9NWK9	9	9	G -> R (in dbSNP:rs17399721).
Q9NWK9	455	455	L -> H (in a colorectal cancer sample; somatic mutation).
Q9HAY6	170	170	T -> M (in hypercarotenemia and vitamin A deficiency; autosomal dominant; has about 90% decreased enzyme activity compared to wild-type; no evidence for a dominant- negative effect; consistent with a loss- of-function mutation resulting in haploinsufficiency).
Q9HAY6	267	267	R -> S (in dbSNP:rs12934922).
Q9HAY6	379	379	A -> V (in dbSNP:rs7501331).
Q9BYV7	231	231	P -> L (in dbSNP:rs10891338).
Q9BYV7	289	289	G -> E (in dbSNP:rs17113607).
Q9BYV7	548	548	L -> I (in dbSNP:rs2217401).
Q8T9T0	284	284	Q -> H (in strain: Z362).
Q8T9T0	317	317	E -> K (in strain: Z229).
Q8T9T0	337	337	A -> S (in strain: Z95, Z197 and Z229).
Q8T9T0	438	438	A -> P (in strain: Z184, Z210 and Z216).
Q8T9T0	458	458	V -> L (in strain: Z157).
Q8T9T0	460	460	M -> L (in strain: Oregon-R, Z145, Z266, Z346 and Z398).
O95999	5	5	A -> S (in MALT lymphoma and mesothelioma; dbSNP:rs12037217).
O95999	16	16	V -> E (in MALT lymphoma).
O95999	31	31	K -> E (in MALT lymphoma).
O95999	45	45	K -> Q (in mesothelioma).
O95999	52	52	T -> I (in mesothelioma).
O95999	57	57	C -> R (in MALT lymphoma).
O95999	58	58	R -> G (in germ cell tumor).
O95999	58	58	R -> Q (in mesothelioma).
O95999	64	64	R -> K (in MALT lymphoma).
O95999	93	93	N -> S (in mesothelioma).
O95999	101	101	D -> E (in MALT lymphoma).
O95999	134	134	S -> P (in MALT lymphoma).
O95999	153	153	M -> V (in mesothelioma).
O95999	168	168	T -> A (in MALT lymphoma).
O95999	174	174	L -> S (in MALT lymphoma).
O95999	210	210	Missing (in follicular lymphoma).
O95999	213	213	G -> E (in MALT lymphoma and mesothelioma; dbSNP:rs3768235).
O95999	218	218	S -> F (in germ cell tumor, mesothelioma and other cancer cell lines).
O95999	230	230	V -> I (in MALT lymphoma).
P10415	7	7	T -> S.
P10415	43	43	A -> T (in dbSNP:rs1800477).
P10415	59	59	P -> S (in non-Hodgkin lymphoma; somatic mutation).
P10415	93	93	V -> I (in non-Hodgkin lymphoma; somatic mutation).
P41182	252	252	N -> S (in dbSNP:rs34463990).
P41182	493	493	A -> T (in dbSNP:rs2229362).
P41182	676	676	H -> Y (in dbSNP:rs1056936).
Q4VC05	120	120	N -> T (in dbSNP:rs34821485).
P0C6P0	33	33	V -> A (in dbSNP:rs6422240).
P0C6P0	54	54	T -> I (in dbSNP:rs6422239).
P0C6P0	81	81	C -> R (in dbSNP:rs7497658).
O00512	671	671	P -> S (in dbSNP:rs3820129).
O00512	782	782	R -> K (in dbSNP:rs34002844).
Q9NYF8	66	66	G -> A (in dbSNP:rs9942517).
Q9NYF8	209	209	S -> C (in dbSNP:rs6940018).
Q9NYF8	459	459	Y -> D (in dbSNP:rs1967446).
Q9NYF8	461	461	L -> H (in dbSNP:rs1967445).
Q9NYF8	629	629	N -> S (in dbSNP:rs7381749).
Q9NYF8	875	875	R -> C (in dbSNP:rs34541670).
Q5H9F3	111	111	F -> L (in dbSNP:rs4830173).
Q5H9F3	209	209	G -> S (in dbSNP:rs5932715).
Q5H9F3	832	832	G -> D (in a breast cancer sample; somatic mutation).
Q9HCJ7	85	85	P -> L (in MCOPS2; dbSNP:rs28935183).
P11274	400	400	S -> P (in a bladder transitional cell carcinoma sample; somatic mutation).
P11274	413	413	I -> M (in dbSNP:rs56321828).
P11274	558	558	K -> T (in dbSNP:rs4437065).
P11274	752	752	D -> E (in dbSNP:rs12484731).
P11274	796	796	N -> S (in dbSNP:rs140504).
P11274	910	910	Y -> C (in dbSNP:rs35537221).
P11274	949	949	V -> I (in dbSNP:rs2229038).
P11274	1037	1037	E -> K (in dbSNP:rs16999516).
P11274	1091	1091	V -> M.
P11274	1096	1096	T -> A.
P11274	1104	1104	A -> G.
P11274	1106	1106	D -> N.
P11274	1127	1127	T -> M (in dbSNP:rs35812689).
P11274	1149	1149	A -> T.
P11274	1161	1161	E -> K.
P11274	1187	1187	K -> E.
P11274	1189	1189	V -> M (in dbSNP:rs55816482).
P11274	1204	1204	A -> G (in dbSNP:rs56265970).
P11274	1235	1235	W -> R (in dbSNP:rs55719322).
Q9Y276	35	35	G -> R (in BJS; with mild mitochondrial complex III deficiency).
Q9Y276	45	45	R -> C (in MT-C3D).
Q9Y276	78	78	S -> G (in GRACILE syndrome; dbSNP:rs28937590).
Q9Y276	99	99	P -> L (in MT-C3D).
Q9Y276	114	114	R -> W (in BJS).
Q9Y276	144	144	R -> Q (in GRACILE syndrome).
Q9Y276	155	155	R -> P (in MT-C3D; abolishes interaction with LETM1).
Q9Y276	183	183	R -> H (in BJS).
Q9Y276	184	184	R -> C (in BJS; with mild mitochondrial complex III deficiency).
Q9Y276	277	277	S -> N (in MT-C3D).
Q9Y276	302	302	Q -> E (in BJS).
Q9Y276	306	306	R -> H (in BJS).
Q9Y276	327	327	V -> A (in GRACILE syndrome).
Q9Y276	353	353	V -> M (in MT-C3D).
Q9BUT1	70	70	N -> S (in dbSNP:rs1054707).
Q9UC24	2	2	T -> I (in CCHS; dbSNP:rs8192466).
Q9UC24	66	66	V -> M (polymorphism that impairs localization to secretory granules or synapses; associated with poorer episodic memory; may have a protective effect in obsessive-compulsive disorder; dbSNP:rs6265).
Q9UC24	75	75	Q -> H (in dbSNP:rs1048218).
Q9UC24	125	125	R -> M (in dbSNP:rs1048220).
Q9UC24	127	127	R -> L (in dbSNP:rs1048221).
Q9H197	26	26	N -> S (in dbSNP:rs3748042).
Q9H197	38	38	E -> D (in dbSNP:rs3748043).
Q9H197	125	125	A -> V (in dbSNP:rs9687593).
Q9H197	722	722	K -> E (in dbSNP:rs36009281).
Q9H197	757	757	C -> R (in dbSNP:rs3761966).
Q9H197	778	778	V -> M (in dbSNP:rs3761967).
Q9H197	1180	1180	G -> S (in dbSNP:rs715748).
Q9H197	1244	1244	F -> I (in dbSNP:rs1961760).
Q9H197	1264	1264	M -> I (in dbSNP:rs715747).
Q9H197	1347	1347	M -> V (in dbSNP:rs6886336).
Q9H197	1469	1469	K -> E (in dbSNP:rs1698063).
Q9H197	1676	1676	Q -> E (in dbSNP:rs12187098).
Q9H197	2013	2013	L -> I (in dbSNP:rs6453014).
Q9H197	2555	2555	N -> S (in dbSNP:rs17276250).
P11494	18	18	L -> F.
Q14457	103	103	A -> V.
Q14457	403	403	I -> T.
Q8NDZ0	154	154	F -> L (in dbSNP:rs17274127).
Q8NDZ0	188	188	S -> F (in dbSNP:rs12859329).
Q8N7W2	313	313	R -> T (in a breast cancer sample; somatic mutation).
Q8N7W2	341	341	N -> S (in dbSNP:rs12247033).
O76090	3	3	I -> T (in VMD2).
O76090	6	6	T -> P (in VMD2 and AVMD; dbSNP:rs28940275).
O76090	6	6	T -> R (in VMD2).
O76090	9	9	V -> A (in VMD2).
O76090	9	9	V -> M (in VMD2; dbSNP:rs28940276).
O76090	10	10	A -> T (in VMD2).
O76090	10	10	A -> V (in VMD2).
O76090	11	11	N -> I (in VMD2).
O76090	13	13	R -> H (in VMD2).
O76090	16	16	S -> F (in VMD2).
O76090	17	17	F -> C (in VMD2).
O76090	21	21	L -> V (in VMD2).
O76090	24	24	W -> C (in VMD2).
O76090	25	25	R -> Q (in VMD2).
O76090	25	25	R -> W (in VMD2).
O76090	26	26	G -> R (in VMD2).
O76090	27	27	S -> R (in VMD2).
O76090	29	29	Y -> H (in VMD2).
O76090	30	30	K -> R (in VMD2).
O76090	41	41	L -> P (in VMD2 and ARB).
O76090	47	47	R -> H (in AVMD; dbSNP:rs28940278).
O76090	58	58	Q -> L (in VMD2).
O76090	67	67	L -> V.
O76090	73	73	I -> N (in VMD2).
O76090	80	80	F -> L (in VMD2).
O76090	82	82	L -> V (in VMD2).
O76090	85	85	Y -> H (in VMD2; loss of cloride and bicarbonate anions conduction; dbSNP:rs28940274).
O76090	86	86	V -> M (in ADVIRC).
O76090	89	89	V -> A (in VMD2).
O76090	91	91	T -> I (in VMD2).
O76090	92	92	R -> C (in VMD2; loss of cloride and bicarbonate anions conduction).
O76090	92	92	R -> H (in VMD2).
O76090	92	92	R -> S (in VMD2).
O76090	93	93	W -> C (in VMD2; loss of cloride and bicarbonate anions conduction; dbSNP:rs28940273).
O76090	96	96	Q -> H (in VMD2).
O76090	99	99	N -> K (in VMD2).
O76090	100	100	L -> R (in VMD2).
O76090	101	101	P -> T (in VMD2).
O76090	102	102	W -> R (in VMD2).
O76090	104	104	D -> E (in VMD2).
O76090	104	104	D -> H (in VMD2).
O76090	105	105	R -> C (in age-related macular degeneration).
O76090	113	113	F -> L (in VMD2).
O76090	119	119	E -> Q (in a sporadic case of concentric annular macular dystrophy; dbSNP:rs1805142).
O76090	133	133	N -> K (in VMD2).
O76090	135	135	G -> S (in VMD2).
O76090	140	140	L -> R (in VMD2).
O76090	140	140	L -> V (in RP50; causes protein mislocalization to the cytoplasm and reduction of channel activity).
O76090	141	141	R -> H (in VMD2 and ARB; reduced whole- cell conductance).
O76090	146	146	A -> K (in AVMD; sporadic; requires 2 nucleotide substitutions; dbSNP:rs1800995).
O76090	152	152	P -> A (in ARB; reduced whole-cell conductance).
O76090	195	195	A -> V (in VMD2).
O76090	201	201	I -> T (in VMD2).
O76090	205	205	I -> T (in RP50; reduced channel activity).
O76090	207	207	L -> I (in VMD2).
O76090	209	209	S -> N (in VMD2).
O76090	216	216	T -> I (in a sporadic case of age-related macular degeneration).
O76090	218	218	R -> C (in VMD2).
O76090	218	218	R -> H (in VMD2).
O76090	218	218	R -> Q (in VMD2).
O76090	218	218	R -> S (in VMD2).
O76090	221	221	C -> W (in VMD2).
O76090	222	222	G -> V (in a family affected by Leber congenital amaurosis/VMD2).
O76090	224	224	L -> M (in VMD2).
O76090	224	224	L -> P (in VMD2).
O76090	227	227	Y -> C (in RP50).
O76090	227	227	Y -> N (in VMD2; dbSNP:rs28941469).
O76090	228	228	D -> N (in RP50; causes protein mislocalization to the cytoplasm).
O76090	231	231	S -> R (in VMD2).
O76090	235	235	V -> L (in VMD2).
O76090	235	235	V -> M (in VMD2).
O76090	236	236	Y -> C (in ADVIRC).
O76090	237	237	T -> R (in VMD2).
O76090	239	239	V -> M (in ADVIRC).
O76090	241	241	T -> N (in VMD2).
O76090	242	242	V -> M (in VMD2; late-onset of visual disturbance).
O76090	243	243	A -> T (in VMD2; dbSNP:rs28940570).
O76090	243	243	A -> V (in VMD2 and AVMD; dbSNP:rs28940570).
O76090	275	275	V -> I (in age-related macular degeneration).
O76090	276	276	F -> L (in VMD2).
O76090	293	293	Q -> K (in VMD2).
O76090	294	294	L -> V (in VMD2).
O76090	295	295	I -> T (in VMD2).
O76090	295	295	Missing (in VMD2).
O76090	296	296	N -> H (in VMD2).
O76090	296	296	N -> S (in VMD2).
O76090	297	297	P -> A (in VMD2).
O76090	297	297	P -> S (in VMD2; dbSNP:rs1805143).
O76090	298	298	F -> S (in VMD2).
O76090	299	299	G -> A (in VMD2).
O76090	299	299	G -> E (in VMD2; dbSNP:rs28941468).
O76090	300	300	E -> D (in VMD2; dbSNP:rs1805144).
O76090	300	300	E -> K (in VMD2).
O76090	301	301	D -> E (in VMD2).
O76090	301	301	D -> N (in VMD2).
O76090	302	304	Missing (in VMD2).
O76090	302	302	D -> G (in VMD2).
O76090	302	302	D -> H (in VMD2).
O76090	302	302	D -> V (in VMD2).
O76090	303	303	D -> E (in VMD2).
O76090	305	305	F -> S (in VMD2).
O76090	306	306	E -> D (in VMD2).
O76090	306	306	E -> G (in VMD2).
O76090	307	307	T -> A (in VMD2).
O76090	307	307	T -> I (in VMD2).
O76090	308	308	N -> S (in VMD2).
O76090	310	310	I -> T (in VMD2).
O76090	311	311	V -> G (in VMD2).
O76090	312	312	D -> N (in AVMD and ARB; causes protein mislocalization to the cytoplasm).
O76090	317	317	V -> M (in ARB).
O76090	325	325	M -> T (in ARB).
O76090	357	357	A -> V (in dbSNP:rs17854138).
O76090	525	525	E -> A.
O76090	557	557	E -> K.
O76090	561	561	T -> A.
O76090	567	567	L -> F (in a sporadic case of age-related macular degeneration; could be a rare polymorphism).
O76090	578	578	E -> V (in dbSNP:rs1800010).
Q8N1M1	43	43	Y -> H (in dbSNP:rs1025016).
Q8N1M1	622	622	E -> G (in dbSNP:rs17106884).
Q8NFU0	62	62	Y -> C (in dbSNP:rs16832245).
Q8NFU0	217	217	Y -> S (in dbSNP:rs16832242).
Q8NFU0	331	331	Q -> E (in dbSNP:rs16832241).
Q8NFU0	402	402	R -> L (in dbSNP:rs16832239).
P15494	63	63	F -> L.
Q9HBH7	9	9	V -> L (in dbSNP:rs3174500).
Q9HBH7	11	11	S -> N (in dbSNP:rs1045058).
Q9HBH7	13	13	S -> I (in dbSNP:rs1045061).
Q9HBH7	14	14	M -> V (in dbSNP:rs1045063).
Q9HBH7	17	17	A -> V (in dbSNP:rs1045065).
Q9HBH7	40	40	A -> V (in dbSNP:rs709036).
Q9HBH7	66	66	M -> I (in dbSNP:rs1045082).
Q9NZS9	140	140	M -> R (in dbSNP:rs11546303).
Q9NZS9	245	245	R -> H (in dbSNP:rs35377618).
P0AE56	9	9	I -> V (in strain: ECOR 30).
P0AE56	22	24	SPH -> HPQ (in strain: ECOR 30).
P0AE56	30	30	K -> R (in strain: ECOR 30).
P0AE56	43	43	V -> I (in strain: ECOR 30).
P0AE56	51	51	E -> Q (in strain: ECOR 30).
P0AE56	57	57	L -> M (in strain: ECOR 30).
P0AE56	63	63	S -> I (in strain: ECOR 30).
P0ABD3	5	7	TKV -> VKI (in strain: ECOR 30).
P0ABD3	38	38	K -> M (in strain: ECOR 30).
P0ABD3	57	57	R -> K (in strain: ECOR 30).
P0ABD3	68	68	L -> I (in strain: ECOR 30).
P0ABD3	78	78	N -> G (in strain: ECOR 30).
P0ABD3	88	88	R -> Q (in strain: ECOR 30).
P0ABD3	92	92	A -> R (in strain: ECOR 30).
P0ABD3	96	96	D -> E (in strain: ECOR 30).
P0ABD3	100	100	N -> D (in strain: ECOR 30).
P0ABD3	106	106	G -> A (in strain: ECOR 30).
P0ABD3	125	125	R -> A (in strain: ECOR 30).
P0ABD3	142	144	QKM -> GKI (in strain: ECOR 30).
P0ABD3	152	158	AQIREEG -> SQIKVKD (in strain: ECOR 30).
Q06637	122	122	H -> R.
Q06637	534	534	F -> I.
Q12934	345	345	G -> S (in dbSNP:rs6080719).
Q12934	656	656	D -> E (in dbSNP:rs16999317).
Q13515	233	233	Missing (in ADC-BFSP2; congenital).
Q13515	287	287	R -> W (in ADC-BFSP2; juvenile-onset).
Q9V3B4	71	71	I -> M (in strain: G130 and G140).
Q9V3B4	87	87	K -> P (in strain: G125, G130 and G140).
Q9V3B4	135	135	T -> P (in strain: G02, G125, G130 and G140).
Q9V3B4	143	143	P -> T (in strain: G02, G130 and G140).
Q9V3B4	149	149	H -> Q (in strain: G125).
P06864	92	92	D -> N (improve activity).
P06864	93	93	E -> K (improve activity).
P06864	976	976	W -> C (improve activity).
P06864	978	978	S -> G (improve activity).
Q9TRY9	280	280	Q -> P.
Q9TRY9	442	442	D -> V.
Q9TRY9	444	444	A -> V.
P16278	10	10	P -> L (in GM1G1; dbSNP:rs7637099).
P16278	49	49	R -> C (in GM1G1).
P16278	49	49	R -> H (in GM1G3).
P16278	51	51	I -> T (in GM1G3).
P16278	59	59	R -> C (in GM1G1; protein enzymatically inactive; severe mutation).
P16278	59	59	R -> H (in GM1G1; with cardiac involvement in some patients; protein enzymatically inactive; severe mutation).
P16278	68	68	R -> Q (in GM1G2; 7.4% of wild-type enzyme activity).
P16278	68	68	R -> W (in GM1G2; no enzyme activity).
P16278	73	73	K -> E (in GM1G3).
P16278	82	82	T -> M (in GM1G3; mild phenotype).
P16278	83	83	Y -> C (in MPS4B).
P16278	83	83	Y -> H (in MPS4B; 2-5% of activity).
P16278	109	109	R -> W (in dbSNP:rs35289681).
P16278	121	121	R -> S (in GM1G1).
P16278	123	123	G -> R (in GM1G1).
P16278	132	132	M -> T (in GM1G1; 4.3% of wild-type enzyme activity).
P16278	134	134	G -> V (in GM1G1).
P16278	136	136	P -> S (in GM1G1).
P16278	147	147	Missing (in GM1G1).
P16278	148	148	R -> C (in GM1G3).
P16278	148	148	R -> S (in GM1G1).
P16278	149	149	S -> F (in MPS4B; 2.0% of wild-type enzyme activity).
P16278	151	151	D -> V (in GM1G1).
P16278	151	151	D -> Y (in GM1G1; complete lack of protein; no enzymatic activity).
P16278	155	155	L -> R (in GM1G2 and GM1G3; 6.7% of wild- type enzyme activity).
P16278	162	162	L -> S (in GM1G1).
P16278	173	173	L -> P (in GM1G1).
P16278	184	184	Q -> R (in GM1G1; no enzymatic activity).
P16278	190	190	G -> D (in GM1G1; 3.4% of wild-type enzyme activity).
P16278	198	198	D -> Y (in MPS4B; 17.4% of wild-type enzyme activity).
P16278	199	199	Y -> C (in GM1G1).
P16278	201	201	R -> C (in GM1G1 and GM1G2; 8.4% of wild- type enzyme activity; activity severely reduced in transfection with the F-436 polymorphism).
P16278	201	201	R -> H (in GM1G2; 36.2% of wild-type enzyme activity; also in GM1G1 and a patient with a slowly progressive GM1- gangliosidosis form).
P16278	208	208	R -> C (in GM1G1).
P16278	214	214	D -> Y (in GM1G3).
P16278	216	216	V -> A (in GM1G1).
P16278	239	239	T -> M (in GM1G1; protein enzymatically inactive; severe mutation; causes a rapid degradation of the protein precursor).
P16278	240	240	V -> M (in GM1G1).
P16278	255	255	Q -> H (in GM1G1; 2.4% of wild-type enzyme activity).
P16278	263	263	P -> S (in GM1G3).
P16278	264	264	L -> S (in GM1G2).
P16278	266	266	N -> S (in GM1G3).
P16278	270	270	Y -> D (in GM1G3; originally classified as Morquio syndrome).
P16278	272	272	G -> D (in GM1G1).
P16278	273	273	W -> L (in MPS4B; 8% of activity).
P16278	281	281	H -> Y (in GM1G1 and GM1G3).
P16278	316	316	Y -> C (in GM1G1).
P16278	318	318	N -> H (in GM1G1; uncertain pathogenicity).
P16278	329	329	T -> I (in GM1G1; 5.0% of wild-type enzyme activity).
P16278	332	332	D -> E (in GM1G1; 2.3% of wild-type enzyme activity).
P16278	332	332	D -> N (in GM1G1).
P16278	333	333	Y -> H (in GM1G2; 3.0% of wild-type enzyme activity; the mutant protein is localized in the lysosomal-endosomal compartment).
P16278	346	346	K -> N (in GM1G1).
P16278	347	347	Y -> C (in GM1G1).
P16278	377	381	Missing (in GM1G1).
P16278	397	397	P -> A (in MPS4B; 24.0% of wild-type enzyme activity).
P16278	408	408	Q -> P (in MPS4B; 1.1% of wild-type enzyme activity).
P16278	420	420	T -> K (in GM1G3).
P16278	420	420	T -> P (in GM1G1).
P16278	422	422	L -> R (in GM1G1).
P16278	434	434	S -> L (in GM1-gangliosidosis; unclassified clinical type).
P16278	436	436	L -> F (seems to have a modulating action in the expression of the severity of other mutations; dbSNP:rs34421970).
P16278	438	438	G -> E (in GM1G3 and MPS4B; mild form; 5.7% of activity).
P16278	441	441	D -> N (in GM1G1).
P16278	442	442	R -> Q (in GM1G1).
P16278	444	444	Y -> C (in MPS4B).
P16278	457	457	R -> Q (in GM1G3).
P16278	482	482	R -> C (in MPS4B; loss of activity).
P16278	482	482	R -> H (in MPS4B and GM1G1; loss of activity).
P16278	484	484	N -> K (in MPS4B; mild form; 1.9% of activity).
P16278	491	491	D -> N (in GM1G1).
P16278	491	491	D -> Y (in GM1G1).
P16278	494	494	G -> C (in GM1G1).
P16278	494	494	G -> S (in MPS4B).
P16278	500	500	T -> A (in MPS4B; mild form; 2.1% of activity).
P16278	509	509	W -> C (in MPS4B; also in a patient with a slowly progressive form of GM1- gangisidosis; loss of activity).
P16278	521	521	R -> C (in a GM1-gangliosidosis patient; mild phenotype; reduction of activity; could be a polymorphism; dbSNP:rs4302331).
P16278	532	532	S -> G.
P16278	549	549	P -> L (in GM1G1).
P16278	554	554	G -> E (in GM1-gangliosidosis; unclassified clinical type).
P16278	578	578	K -> R (in GM1G1).
P16278	579	579	G -> D (in GM1G1 and GM1G2; protein enzymatically inactive; severe mutation).
P16278	590	590	R -> C (in GM1G1).
P16278	590	590	R -> H (in GM1G2).
P16278	591	591	Y -> C (in GM1G1; with cardiac involvement in some patients; protein enzymatically inactive; severe mutation; causes a rapid degradation of the protein precursor).
P16278	591	591	Y -> N (in GM1G1; with cardiac involvement in some patients; protein enzymatically inactive; severe mutation; causes a rapid degradation of the protein precursor).
P16278	595	595	R -> W (reduction of activity).
P16278	597	597	P -> S (in GM1G1; 2.1% of wild-type enzyme activity).
P16278	632	632	E -> G (in GM1G2).
Q48727	34	34	L -> F (in strain: ATCC 7962).
Q48727	182	182	V -> G (in strain: ATCC 7962).
Q48727	237	237	I -> M (in strain: ATCC 7962).
Q48727	629	629	I -> T (in strain: ATCC 7962).
Q48727	677	677	C -> Y (in strain: ATCC 7962).
Q48727	702	702	R -> K (in strain: ATCC 7962).
Q48727	712	712	F -> L (in strain: ATCC 7962).
Q48727	784	785	GI -> AV (in strain: ATCC 7962).
Q48727	796	796	T -> N (in strain: ATCC 7962).
Q48727	919	919	D -> G (in strain: ATCC 7962).
Q9ET32	22	22	L -> I (in allele A4).
Q9ET32	24	24	L -> S (in allele A3).
Q9ET32	35	35	K -> R (in allele A2 and allele A3).
Q9ET32	36	36	I -> F (in allele A2 and allele A4).
Q9ET32	37	37	Q -> H (in allele A2).
Q9ET32	43	44	GG -> AV (in allele A2).
Q9ET32	46	46	T -> S (in allele A4).
Q9ET32	53	53	T -> M (in allele A2, allele A3 and allele A4).
Q9ET32	56	57	QK -> HE (in allele A2, allele A3 and allele A4).
Q9ET32	65	65	A -> T (in allele A3 and allele A4).
Q9ET32	70	70	N -> K (in allele A3 and allele A4).
Q9ET32	71	73	VLT -> MLK (in allele A4).
Q9ET32	75	75	I -> T (in allele A2 and allele A3).
Q9ET32	106	106	L -> T (in allele A4).
Q9ET32	107	107	Q -> R (in allele A2 and allele A4).
Q9ET32	146	146	V -> I (in allele A3).
Q9ET32	152	152	S -> A (in allele A2, allele A3 and allele A4).
Q9ET32	164	164	K -> R (in allele A2, allele A3 and allele A4).
Q9ET32	197	197	H -> Y (in allele A2).
Q9ET32	205	205	G -> A (in allele A4).
Q9ET32	222	222	A -> S (in allele A4).
Q9ET32	233	233	R -> S (in allele A4).
Q9ET32	235	235	R -> Q (in allele A4).
Q9ET32	245	245	P -> S (in allele A4).
Q9ET32	253	253	R -> G (in allele A4).
Q9ET32	270	270	V -> L (in allele A2, allele A3 and allele A4).
Q9ET32	281	281	Q -> K (in allele A2, allele A3 and allele A4).
Q9ET32	284	284	V -> L (in allele A4).
Q9ET32	287	287	Q -> K (in allele A2 and allele A3).
Q9ET32	300	300	H -> Y (in allele A2 and allele A3).
Q99484	35	35	G -> R (in dbSNP:rs8176696).
Q99484	36	36	V -> F (in dbSNP:rs688976).
Q99484	63	63	R -> H (in dbSNP:rs549446).
Q99484	74	74	P -> S (in dbSNP:rs512770).
Q99484	80	81	CR -> W.
Q99484	156	156	P -> L (in allele A2; dbSNP:rs1053878).
Q99484	161	161	R -> H (in dbSNP:rs8176738).
Q99484	163	163	T -> M (in allele Aw08; dbSNP:rs55756402).
Q99484	176	176	R -> G (in group B transferase; dbSNP:rs7853989).
Q99484	198	198	R -> W (in allele Aw07; dbSNP:rs56223957).
Q99484	199	199	R -> C (in dbSNP:rs8176739).
Q99484	214	214	M -> R (in allele Bel01; loss of manganese binding and reduced catalytic activity; dbSNP:rs55827808).
Q99484	216	216	F -> I (in dbSNP:rs8176740).
Q99484	223	223	E -> D (in allele B106).
Q99484	230	230	G -> R (in group B transferase; lower- level protein expression and intracellular cytoplasmic mislocation).
Q99484	235	235	G -> S (in group B transferase; dbSNP:rs8176743).
Q99484	257	257	P -> L (in dbSNP:rs8176745).
Q99484	266	266	L -> M (in group B transferase; important for the specificity; dbSNP:rs8176746).
Q99484	268	268	G -> A (in group B transferase; important for the specificity; dbSNP:rs8176747).
Q99484	268	268	G -> R (in dbSNP:rs8176747).
Q99484	277	277	V -> M (in dbSNP:rs8176748).
Q99484	288	288	M -> R.
Q99484	291	291	D -> N (in allele B104).
Q99484	346	346	K -> M (in allele Bw08).
Q99484	352	352	R -> G (in allele A107).
Q99484	352	352	R -> W (in allele A106 and allele B3).
A0ZX41	75	75	V -> G (in strain: Netherlands line N30).
A0ZX41	400	400	I -> M (in strain: Netherlands line N07 and Netherlands line N14).
Q9NHA8	16	16	L -> Q (in strain: Netherlands line N22).
Q9NHA8	142	142	P -> T (in strain: Netherlands line N02 and Netherlands line N30).
Q9NHA8	213	213	P -> L (in strain: Netherlands line N02, Netherlands line N07, Netherlands line N17 and Netherlands line N30).
Q9NHA8	292	292	A -> V (in strain: Netherlands line N02 and Netherlands line N30).
Q9NHA8	399	399	K -> I (in strain: Netherlands line N22).
Q9NHA8	404	404	E -> G (in strain: Netherlands line N02 and Netherlands line N30).
Q9NHA8	408	408	A -> G (in strain: Netherlands line N22).
Q9NHA8	479	479	H -> N (in strain: Netherlands line N22).
Q53XM1	113	113	V -> I (in granular corneal dystrophy; unclassified form; with centrifuge pattern of opacities).
Q53XM1	123	123	D -> H (in granular corneal dystrophy; unclassified form; Hanoi).
Q53XM1	124	124	R -> C (in CDL1).
Q53XM1	124	124	R -> H (in ACD; most common mutation in Japanese).
Q53XM1	124	124	R -> L (in CDRB).
Q53XM1	124	124	R -> S (in CDGG1; late-onset; mild ocular irritation and reduction in visual acuity).
Q53XM1	125	126	Missing (associated with Leu-124 in atypical granular dystrophy; French granular variant).
Q53XM1	200	200	I -> F (in dbSNP:rs45455404).
Q53XM1	269	269	L -> F.
Q53XM1	496	496	R -> G (in dbSNP:rs10057190).
Q53XM1	501	501	P -> T (in CDL3A).
Q53XM1	505	505	V -> D (in CDL1).
Q53XM1	509	509	L -> R (in EBMD).
Q53XM1	518	518	L -> P (in CDL1).
Q53XM1	518	518	L -> R (in CDL1; severe phenotype; delayed age of onset).
Q53XM1	527	527	L -> R (in CDL1; late-onset; found also in sporadic cases).
Q53XM1	538	538	T -> R (in CDL1; delayed age of onset).
Q53XM1	539	539	V -> D (in lattice corneal dystrophy; unclassified form).
Q53XM1	540	540	F -> S (in CDL3A).
Q53XM1	540	540	Missing (in CDRB).
Q53XM1	544	544	N -> S (in CDL; late-onset).
Q53XM1	546	546	A -> D (in CDL1; associated with Q-551).
Q53XM1	546	546	A -> T (in CDL3A).
Q53XM1	551	551	P -> Q (in CDL1; associated with D-546).
Q53XM1	555	555	R -> Q (in CDTB; originally thought to cause CDRB).
Q53XM1	555	555	R -> W (in CDGG1; common mutation in Europe and United States; rare in Japan).
Q53XM1	569	569	L -> R (in CDL1).
Q53XM1	572	572	H -> R (in CDL1; late-onset).
Q53XM1	572	572	Missing (in CDL1; late-onset and unilateral phenotype).
Q53XM1	594	594	G -> V (in lattice corneal dystrophy; unclassified form).
Q53XM1	622	622	N -> H (in asymmetric lattice corneal dystrophy).
Q53XM1	622	622	N -> K (in CDL3A).
Q53XM1	623	623	G -> D (in CDL1; delayed age of onset).
Q53XM1	624	625	Missing (in lattice corneal dystrophy; unclassified form).
Q53XM1	626	626	H -> P (in CDL1).
Q53XM1	626	626	H -> R (in CDL1; delayed age of onset).
Q53XM1	631	631	V -> D (in CDL).
Q53XM1	666	666	R -> S (in EBMD; low penetrance in one family).
Q93Z31	128	128	S -> N (in strain: cv. Ta-0).
Q93Z31	261	261	T -> K (in strain: cv. Ba-1).
Q93Z31	264	264	K -> Q (in strain: cv. Ba-1).
Q93Z31	427	427	G -> A (in strain: cv. Ag-0, cv. Ba-1, cv. Mh-0, cv. Mr-0 and Tac-0).
Q93Z31	459	459	N -> G (in strain: cv. Su-0).
Q93Z31	489	489	V -> I (in strain: cv. No-0, cv. Rsch-0 and cv. Ta-0).
O18835	166	166	R -> H (in MPS VII; loss of activity).
O97524	351	351	E -> K (in MPS VII).
P08236	30	30	P -> S (in MPS7).
P08236	38	38	C -> G (in MPS7; very mild phenotype).
P08236	52	52	S -> F (in MPS7; loss of activity).
P08236	136	136	G -> R (in MPS7).
P08236	148	148	P -> S (in MPS7).
P08236	150	150	E -> K (in MPS7).
P08236	152	152	D -> G (in MPS7).
P08236	152	152	D -> N (reduced activity levels without apparent pathogenic consequences).
P08236	176	176	L -> F (in MPS7).
P08236	216	216	R -> W (in MPS7).
P08236	243	243	L -> P (in MPS7).
P08236	320	320	Y -> C (in MPS7).
P08236	320	320	Y -> S (in MPS7).
P08236	339	339	N -> S (in MPS7).
P08236	350	350	K -> N (in MPS7).
P08236	351	351	H -> Y (in MPS7).
P08236	354	354	A -> V (in MPS7).
P08236	361	369	Missing (in MPS7).
P08236	362	362	D -> N (in MPS7).
P08236	364	364	P -> L (in MPS7).
P08236	374	374	R -> C (in MPS7).
P08236	376	376	L -> F (in dbSNP:rs11559283).
P08236	382	382	R -> C (in MPS7).
P08236	382	382	R -> H (in MPS7).
P08236	408	408	P -> S (in MPS7).
P08236	415	415	P -> L (in MPS7).
P08236	435	435	R -> P (in MPS7).
P08236	477	477	R -> W (in MPS7).
P08236	495	495	Y -> C (in MPS7).
P08236	508	508	Y -> C (in MPS7).
P08236	540	540	E -> K (in MPS7).
P08236	572	572	G -> D (in MPS7).
P08236	577	577	R -> L (in MPS7; loss of activity).
P08236	606	606	K -> N (in MPS7).
P08236	607	607	G -> A (in MPS7).
P08236	611	611	R -> W (in MPS7).
P08236	619	619	A -> V (in MPS7).
P08236	626	626	Y -> H (in MPS7; very mild phenotype).
P08236	627	627	W -> C (in MPS7).
P08236	649	649	L -> P (in dbSNP:rs9530).
P12265	87	87	T -> I (in strain: C3H/HeJ).
P12265	233	233	I -> T (in allele GUS-SA).
P12265	265	265	D -> G (in strain: YBR and C3H/HeJ).
P12265	320	320	V -> I (in strain: YBR and C3H/HeJ).
P12265	428	428	E -> K (in allele GUS-SA).
P12265	616	616	F -> L (in allele GUS-SA).
P12265	642	642	G -> R (in allele W26; reduced retention in the endoplasmic reticulum).
Q9LK48	29	29	T -> S (in strain: cv. Cvi-0).
Q8VZ22	75	75	Q -> E (in strain: cv. Cvi-0).
Q8VZ22	84	84	I -> V (in strain: cv. C24).
Q8VZ22	257	257	K -> E (in strain: cv. C24).
Q8VZ22	266	266	N -> D (in strain: cv. C24).
Q8VZ22	297	297	S -> T (in strain: cv. Cvi-0).
Q8VZ22	299	299	L -> F (in strain: cv. C24).
Q8NFJ8	28	28	S -> A (in dbSNP:rs7016250).
Q9C0J9	384	384	P -> R (associated with short sleep phenotype).
Q6PI77	132	132	S -> G (in dbSNP:rs2179675).
Q6PI77	318	318	C -> R (in dbSNP:rs4514179).
Q93088	199	199	G -> S (in dbSNP:rs59866108).
Q93088	239	239	R -> Q (may decrease risk for coronary artery disease; dbSNP:rs3733890).
Q9UHR4	460	460	S -> T (in dbSNP:rs2269966).
Q9H694	8	8	G -> D (in dbSNP:rs7905025).
Q9H694	943	943	S -> P (in dbSNP:rs4948550).
Q9H694	945	945	N -> S (in dbSNP:rs7895817).
A1A5D9	55	55	Q -> E (in dbSNP:rs7204908).
A1A5D9	273	273	Q -> R (in dbSNP:rs2244494).
P55957	10	10	S -> G (in dbSNP:rs8190315).
P55957	162	162	H -> Q (in dbSNP:rs17853595).
P55957	194	194	M -> T (in dbSNP:rs59225839).
P53004	3	3	A -> T (in dbSNP:rs699512).
P53004	37	37	L -> V (in dbSNP:rs17245918).
P53004	56	56	Q -> R (in dbSNP:rs1050916).
Q9Y6D6	273	273	D -> Y (in dbSNP:rs4321984).
Q9Y6D6	316	316	G -> E (in a colorectal cancer sample; somatic mutation).
Q9Y6D5	209	209	E -> K (in PVNH2; dbSNP:rs28937880).
Q9Y6D5	527	527	A -> V (in dbSNP:rs6063343).
Q9Y6D5	794	794	K -> E (in a breast cancer sample; somatic mutation).
Q5TH69	413	413	E -> D (in dbSNP:rs9376338).
Q5TH69	689	689	S -> A (in dbSNP:rs7764091).
Q5TH69	1571	1571	A -> T (in dbSNP:rs3736706).
Q5TH69	2031	2031	K -> R (in dbSNP:rs35964895).
Q13323	19	19	E -> K (in dbSNP:rs4988415).
Q13323	26	26	T -> I (in dbSNP:rs11090143).
Q13323	148	148	L -> P (in dbSNP:rs11574527).
O75514	35	35	K -> N (in ARCNM; abolishes membrane tubulation).
O75514	151	151	D -> N (in ARCNM; abolishes membrane tubulation).
Q9UBW5	48	48	S -> N (in dbSNP:rs7312857).
Q9UBW5	529	529	N -> D (in dbSNP:rs7954976).
P50277	229	229	K -> E (in strain: ATCC 28383 and ATCC 204626).
P50277	295	295	H -> R (in strain: ATCC 28383 and ATCC 204626).
P50277	384	384	N -> D (in strain: ATCC 28383 and ATCC 204626).
P42975	18	18	N -> S (in strain: W23).
P42975	89	89	H -> Q (in strain: W23).
P42975	92	92	L -> I (in strain: W23).
P42975	137	137	V -> I (in strain: W23).
P42975	169	169	E -> A (in strain: W23).
P42975	219	220	PN -> SD (in strain: W23).
P42975	237	237	A -> S (in strain: W23).
P42975	311	311	N -> Q (in strain: W23).
P06709	61	61	P -> A (in strain: RDD012).
P06709	70	70	K -> E (in strain: RDD012).
Q13075	535	535	V -> M.
Q13490	453	453	M -> I (in dbSNP:rs34749508).
Q13490	453	453	M -> V.
Q13490	506	506	A -> V (in dbSNP:rs34510872).
Q13490	549	549	P -> S (in dbSNP:rs35494784).
Q13489	260	260	K -> R (in dbSNP:rs2276113).
Q13489	386	386	V -> M (in dbSNP:rs12222256).
Q13489	401	401	R -> K (in dbSNP:rs17881197).
Q9P2W8	129	129	E -> K (in dbSNP:rs2071214).
Q96CA5	223	223	E -> Q (in dbSNP:rs1077019).
Q96P09	156	156	A -> T (in dbSNP:rs35880972).
Q96P09	165	165	L -> S (in dbSNP:rs34092035).
Q96P09	196	196	Y -> H (in dbSNP:rs8109165).
Q96P09	225	225	A -> T (in dbSNP:rs35700345).
Q96P09	225	225	A -> V (in dbSNP:rs34683072).
Q56EB1	31	31	S -> P.
Q56EB1	34	34	G -> Q.
Q56EB1	35	35	H -> Q.
Q56EB1	40	40	F -> V.
Q56EB1	43	43	K -> E.
Q56EB1	43	43	K -> Q.
Q56EB1	46	46	W -> H.
Q56EB1	46	46	W -> N.
Q56EB1	51	51	R -> Y.
Q56EB0	31	31	S -> P.
Q56EB0	34	34	G -> Q.
Q56EB0	35	35	S -> H.
Q56EB0	35	35	S -> Q.
Q56EB0	40	40	F -> V.
Q56EB0	43	43	K -> E.
Q56EB0	43	43	K -> Q.
Q56EB0	46	46	W -> H.
Q56EB0	46	46	W -> N.
Q56EB0	51	51	K -> R.
Q56EB0	51	51	K -> Y.
P46663	250	250	A -> V (in dbSNP:rs2229459).
P46663	317	317	R -> Q (in dbSNP:rs8004609).
P30411	14	14	R -> C (in dbSNP:rs1046248).
P30411	354	354	G -> E (in dbSNP:rs2227279).
Q6QNY1	13	13	S -> R (in dbSNP:rs33965491).
P52660	124	124	L -> V (in strain: 5E78-1).
P52660	171	171	D -> G (in strain: 5E78-1).
P52660	175	175	P -> R (in strain: 5E78-1).
P52660	186	186	T -> N (in strain: 5E78-1).
P52660	217	217	P -> S (in strain: 5E78-1).
P52660	258	258	L -> M (in strain: 5E78-1).
P52660	284	284	N -> S (in strain: 5E78-1).
P52660	290	290	I -> C (in strain: 5E78-1).
P52664	13	13	T -> A (in strain: 5E78-1).
P52664	23	23	V -> A (in strain: 5E78-1).
P52664	30	31	NT -> DN (in strain: 5E78-1).
P52664	40	40	S -> N (in strain: 5E78-1).
P52664	58	58	E -> K (in strain: 5E78-1).
P52664	88	88	E -> A (in strain: 5E78-1).
P52664	119	119	V -> T (in strain: 5E78-1).
P52664	123	123	S -> T (in strain: 5E78-1).
P52664	126	126	Q -> E (in strain: 5E78-1).
P52664	224	224	H -> N (in strain: 5E78-1).
P52664	235	235	I -> V (in strain: 5E78-1).
P52664	257	257	K -> E (in strain: 5E78-1).
P52664	283	283	V -> A (in strain: 5E78-1).
P52664	286	286	T -> A (in strain: 5E78-1).
Q59517	82	82	A -> S (in amoxcillin-resistant strain).
Q59517	116	116	A -> E (in amoxcillin-resistant strain).
C0H419	4	4	S -> I (in strain: ATCC 6633).
C0H419	21	21	Q -> H (in strain: ATCC 6633).
C0H419	47	47	I -> T (in strain: ATCC 6633).
C0H419	54	54	K -> N (in strain: ATCC 6633).
C0H419	70	70	N -> D (in strain: ATCC 6633).
P62593	19	19	L -> F (in TEM-4).
P62593	37	37	Q -> K (in TEM-2, TEM-3, TEM-8, TEM-16 and TEM-24).
P62593	67	67	M -> L (in IRT-4).
P62593	102	102	E -> K (in TEM-3, TEM-4, TEM-6, TEM-8, TEM-16 and TEM-24).
P62593	162	162	R -> H (in TEM-6 and TEM-16).
P62593	162	162	R -> S (in TEM-5, TEM-8 and TEM-24).
P62593	235	235	A -> T (in TEM-5 and TEM-24).
P62593	236	236	G -> S (in TEM-3, TEM-4 and TEM-8).
P62593	237	237	E -> K (in TEM-5 and TEM-24).
P62593	261	261	T -> M (in TEM-4).
P62593	272	272	N -> D (in IRT-4).
Q08790	10	10	S -> A (in strain: N16961).
Q08790	68	68	S -> L (in strain: O17).
Q9FXG8	193	193	G -> S (in strain: cv. Ag-0, cv. Bs-1, cv. Chi-1, cv. Cvi-0, cv. Kas-1, cv. Ita- 0, cv. Landsberg erecta, cv. Lisse, cv. Me-0, cv. Mt-0, cv. Oy-0).
Q9FXG8	204	204	S -> N (in strain: cv. Ag-0, cv. Bs-1, cv. Chi-1, cv. Cvi-0, cv. Kas-1, cv. Ita- 0, cv. Landsberg erecta, cv. Lisse, cv. Me-0, cv. Mt-0, cv. Oy-0).
Q9FXG8	213	213	G -> GS (in strain: cv. Ag-0, cv. Bs-1, cv. Chi-1, cv. Cvi-0, cv. Kas-1, cv. Ita- 0, cv. Landsberg erecta, cv. Lisse, cv. Me-0, cv. Mt-0, cv. Oy-0).
Q9FXG8	218	218	S -> N (in strain: cv. Ag-0, cv. Bs-1, cv. Chi-1, cv. Cvi-0, cv. Kas-1, cv. Ita- 0, cv. Landsberg erecta, cv. Lisse, cv. Me-0, cv. Mt-0, cv. Oy-0).
Q9FXG8	233	233	E -> D (in strain: cv. Ag-0, cv. Bs-1, cv. Chi-1, cv. Cvi-0, cv. Kas-1, cv. Ita- 0, cv. Landsberg erecta, cv. Lisse, cv. Me-0, cv. Mt-0, cv. Oy-0).
Q9FXG8	236	236	Q -> H (in strain: cv. Ag-0, cv. Bs-1, cv. Chi-1, cv. Cvi-0, cv. Kas-1, cv. Ita- 0, cv. Landsberg erecta, cv. Lisse, cv. Me-0, cv. Mt-0, cv. Oy-0).
Q9FXG8	289	289	R -> C (in strain: cv. Ag-0, cv. Lisse).
Q8IZY5	76	76	A -> D (in dbSNP:rs7116084).
P51451	48	48	T -> I (in dbSNP:rs35339715).
P51451	71	71	A -> T (in a colorectal adenocarcinoma sample; somatic mutation; dbSNP:rs55758736).
Q13867	443	443	I -> V (common polymorphism; dbSNP:rs1050565).
P54132	137	137	K -> R (in dbSNP:rs28384988).
P54132	298	298	T -> M (in dbSNP:rs28384991).
P54132	591	591	R -> Q (in dbSNP:rs28385012).
P54132	672	672	Q -> R (in BLM).
P54132	841	841	I -> T (in BLM).
P54132	843	843	T -> I (in BLM).
P54132	868	868	P -> L (in dbSNP:rs11852361).
P54132	878	878	C -> R (in BLM).
P54132	891	891	G -> E (in BLM).
P54132	901	901	C -> Y (in BLM).
P54132	1036	1036	C -> F (in BLM).
P54132	1043	1043	A -> D (in dbSNP:rs2229035).
P54132	1055	1055	C -> S (in BLM).
P54132	1205	1205	V -> I (in dbSNP:rs28385141).
P54132	1209	1209	S -> T (in dbSNP:rs1801256).
P54132	1213	1213	E -> K (in dbSNP:rs28385142).
P54132	1321	1321	V -> I (in dbSNP:rs7167216).
P22391	262	262	L -> P (in strain: KH66).
P22391	278	278	E -> K (in strain: KH66).
P23954	15	15	Missing (in strain: KH11 and SB23).
P23954	199	199	D -> N (in strain: D488 and HB60).
P23954	225	225	A -> V (in strain: D488).
P23954	255	255	D -> N (in strain: D488).
P30043	46	46	R -> Q (in dbSNP:rs11547746).
P20736	235	237	SGS -> RAF.
P20736	507	507	F -> C.
Q9NYQ5	340	340	N -> S (in dbSNP:rs1037921).
Q9NYQ5	574	574	A -> V (in dbSNP:rs11049005).
P35226	18	18	C -> Y (in dbSNP:rs1042059).
P29006	117	117	I -> L.
P29006	124	124	L -> M.
O95393	200	200	T -> S (in dbSNP:rs2231342).
O95393	250	250	N -> K (in dbSNP:rs2231345).
O95972	5	5	S -> R (no or minor deleterious effect observed).
O95972	61	61	R -> Q (in POF4).
O95972	61	61	R -> W (in POF4).
O95972	68	68	R -> W (in POF4; leads to marked reduction of mature protein production; does not generate a complete recovery of wild-type activity in granulosa cell line transfected with defective mutant and with equal amount of wild-type protein).
O95972	76	76	R -> C (in POF4).
O95972	76	76	R -> H (in POF4).
O95972	103	103	N -> S (in dbSNP:rs41308602).
O95972	138	138	R -> H (in POF4; leads to marked reduction of mature protein production; does not generate a complete recovery of wild-type activity in granulosa cell line transfected with defective mutant and with equal amount of wild-type protein).
O95972	148	148	L -> P (in POF4; leads to marked reduction of mature protein production; does not generate a complete recovery of wild-type activity in granulosa cell line transfected with defective mutant and with equal amount of wild-type protein).
O95972	180	180	A -> F (requires 2 nucleotide substitutions).
O95972	180	180	A -> T (in POF4; uncertain pathogenicity; could be a polymorphism; no or minor deleterious effect detected).
O95972	196	196	N -> K (in POF4).
O95972	206	206	R -> H (in POF4).
O95972	221	221	W -> R (in POF4).
O95972	235	235	Y -> C (in ODG2; dominant-negative effect; may cause relevant modifications in the conformation of the precursor protein possibly leading to altered processing and impaired activation of latent forms or to abnormal dimerization).
O95972	243	243	I -> V (in POF4).
O95972	263	263	L -> LL (no or minor deleterious effect detected).
Q99423	45	45	D -> H (in a breast cancer sample; somatic mutation).
Q99423	719	719	V -> I (in dbSNP:rs11996036).
Q9NSY1	68	68	V -> M (in a lung squamous cell carcinoma sample; somatic mutation).
Q9NSY1	212	212	D -> V.
Q9NSY1	288	288	R -> H.
Q9NSY1	405	405	G -> S (in dbSNP:rs2288255).
Q9NSY1	486	486	Q -> H (in dbSNP:rs2114202).
Q9NSY1	1002	1002	T -> S (in dbSNP:rs12507099).
P12643	37	37	S -> A (in dbSNP:rs2273073).
P12643	77	77	P -> S (in dbSNP:rs36105541).
P12643	106	106	A -> T (in dbSNP:rs2273074).
P12643	161	161	L -> S (in dbSNP:rs34183594).
P12643	190	190	R -> S (in dbSNP:rs235768).
P12643	387	387	D -> G (in dbSNP:rs11545591).
P12645	176	176	Q -> K (in dbSNP:rs34213771).
P12645	176	176	Q -> L (in dbSNP:rs34847147).
P12645	192	192	R -> Q (in dbSNP:rs3733549).
P12645	205	205	L -> F (in dbSNP:rs6831040).
P12645	222	222	T -> M (in dbSNP:rs34505126).
P12644	91	91	S -> C (in OFC11; also found in renal hypodysplasia patients).
P12644	93	93	E -> G (in MCOPS6).
P12644	102	102	T -> A.
P12644	116	116	T -> S (in a renal hypodysplasia patient).
P12644	150	150	N -> K (in a renal hypodysplasia patient).
P12644	152	152	V -> A (in dbSNP:rs17563).
P12644	162	162	R -> Q (in OFC11).
P12644	168	168	G -> A.
P12644	225	225	T -> A.
P12644	226	226	R -> W.
P12644	287	287	R -> H (in OFC11).
P12644	346	346	A -> V (in OFC11).
P12644	367	367	S -> T.
P22003	2	2	H -> Y (in dbSNP:rs9475437).
P22003	121	121	N -> S (in dbSNP:rs35124644).
P22004	257	257	R -> C (in dbSNP:rs10458105).
P22004	343	343	A -> D (in a colorectal cancer sample; somatic mutation).
P22004	476	476	P -> L (in a colorectal cancer sample; somatic mutation).
Q7Z5Y6	84	84	M -> V (in dbSNP:rs4660269).
Q7Z5Y6	293	293	R -> H (in dbSNP:rs6525).
P34820	293	293	H -> R (in dbSNP:rs6525).
O31357	22	22	G -> D (in strain: PLi).
O31357	26	26	S -> N (in strain: PLi).
O31357	107	107	P -> S (in strain: PLi).
O31357	125	125	T -> A (in strain: PLi).
O31357	194	194	N -> D (in strain: PLi).
O31357	219	219	S -> G (in strain: PLi).
O31357	253	253	I -> V (in strain: PLi).
O31357	257	257	A -> S (in strain: PLi).
O31357	264	264	S -> A (in strain: PLi).
O31357	271	271	N -> S (in strain: PLi).
P0C223	111	111	A -> S (in strain: PLe).
P0C223	200	200	I -> T (in strain: PLj7).
P0C223	240	240	I -> V (in strain: PLj7).
P0C223	254	254	L -> F (in strain: PLe).
Q45010	278	278	F -> S (in strain: 297).
Q45011	45	45	S -> A (in strain: 212).
Q45011	233	233	A -> T (in strain: B31).
Q45011	318	318	V -> I (in strain: B31).
O50169	179	179	V -> L (in strain: 297 and N40).
Q8N8U9	555	555	R -> W (in dbSNP:rs10249320).
Q13873	60	60	C -> Y (in PPH1).
Q13873	82	82	Q -> H (in PPH1).
Q13873	117	117	C -> Y (in PPH1).
Q13873	118	118	C -> W (in PPH1).
Q13873	123	123	C -> R (in PPH1).
Q13873	123	123	C -> S (in PPH1).
Q13873	182	182	G -> D (in PPH1).
Q13873	224	224	E -> D.
Q13873	347	347	C -> Y (in PPH1).
Q13873	420	420	C -> R (in PPH1).
Q13873	483	483	C -> R (in PPH1; sporadic).
Q13873	485	485	D -> G (in PPH1; complete loss of function).
Q13873	491	491	R -> Q (in PPH1; sporadic).
Q13873	491	491	R -> W (in PPH1).
Q13873	512	512	K -> T (in PPH1).
Q13873	519	519	N -> K (in PPH1).
Q13873	775	775	S -> N (in dbSNP:rs2228545).
Q13873	899	899	R -> P (in PPH1; leads to constitutive activation of the MAPK14 pathway).
P36894	2	2	P -> T (in dbSNP:rs11528010).
P36894	58	58	F -> Y (in a renal clear cell carcinoma sample; somatic mutation).
P36894	62	62	Y -> D (in JPS).
P36894	82	82	C -> Y (in JPS).
P36894	124	124	C -> R (in JPS).
P36894	130	130	C -> R (in JPS).
P36894	338	338	A -> D (in CD).
P36894	376	376	C -> Y (in JPS).
P36894	443	443	R -> C (in JPS; dbSNP:rs35619497).
P36894	450	450	V -> M (in dbSNP:rs55932635).
P36894	470	470	M -> T (in JPS).
P36894	486	486	R -> Q (in a gastric adenocarcinoma sample; somatic mutation).
O00238	31	31	R -> H (in a gastric adenocarcinoma sample; somatic mutation).
O00238	149	149	R -> W (in dbSNP:rs34231464).
O00238	200	200	I -> K (in BDA2; dbSNP:rs28939703).
O00238	224	224	R -> H (in dbSNP:rs35973133).
O00238	297	297	D -> N (in a metastatic melanoma sample; somatic mutation).
O00238	371	371	R -> Q (in dbSNP:rs34970181).
O00238	486	486	R -> Q (in brachydactyly type C and BDA2; with also additional features of symphalangism-1).
O00238	486	486	R -> W (in BDA2; dbSNP:rs28939704).
Q14692	237	237	R -> H (in dbSNP:rs2272881).
Q14692	552	552	S -> P (in dbSNP:rs3814621).
Q14692	652	652	K -> R (in dbSNP:rs787795).
Q14692	884	884	M -> V (in dbSNP:rs2419109).
Q14692	1141	1141	V -> I (in dbSNP:rs12764004).
P51813	284	284	S -> L (in dbSNP:rs35353387).
P51813	670	670	R -> W (in a lung large cell carcinoma sample; somatic mutation).
Q9VNH1	16	16	A -> P (in strain: ZBMEL377).
Q9VNH1	298	298	T -> K (in strain: ZBMEL84, ZBMEL95, ZBMEL131 and ZBMEL157).
Q7Z5W3	288	288	S -> R (in dbSNP:rs11169172).
Q6ZN30	550	550	L -> V (in dbSNP:rs4961490).
Q6ZN30	782	782	T -> A (in dbSNP:rs3739714).
Q9VZA4	297	297	N -> D (in RNA edited version).
Q12982	24	24	S -> T (in dbSNP:rs6151509).
Q7Z465	65	65	S -> N (in dbSNP:rs12068365).
Q7Z465	226	226	S -> N (in dbSNP:rs12068365).
Q2PE51	31	31	Q -> H (in isoform 2).
Q2PE51	36	36	L -> P (in isoform 2).
Q90Y12	31	31	Q -> H (in isoform 1).
Q90Y12	36	36	L -> P (in isoform 1).
Q90Y12	144	144	C -> G (in isoform 1).
P08086	24	24	P -> S (in strain: ML2).
P08086	52	52	D -> E (in strain: ML2).
P08086	59	59	I -> V (in strain: ML2).
P08086	88	88	F -> Y (in strain: ML2).
P08086	92	92	V -> I (in strain: ML2).
Q9BWV1	713	713	V -> M (in a breast cancer sample; somatic mutation).
Q9BWV1	883	883	K -> N (in dbSNP:rs35536878).
Q9BWV1	915	915	Q -> H (in dbSNP:rs3814405).
Q6AZB0	1051	1051	R -> Q (in strain: C57BL/6).
Q8NFC6	246	246	S -> I (in a breast cancer sample; somatic mutation).
Q8NFC6	429	429	T -> M (in dbSNP:rs2035820).
Q8NFC6	650	650	L -> I (in dbSNP:rs1971278).
Q8NFC6	1369	1369	A -> G (in dbSNP:rs17745712).
Q8NFC6	1448	1448	T -> A (in dbSNP:rs17745676).
Q8NFC6	1515	1515	T -> A (in dbSNP:rs16888885).
Q8NFC6	1645	1645	V -> I (in dbSNP:rs17807493).
Q8NFC6	2361	2361	G -> S (in dbSNP:rs3822227).
Q8NFC6	2396	2396	P -> L (in dbSNP:rs3733557).
Q8NFC6	2944	2944	V -> M (in dbSNP:rs28538279).
P80193	1	1	Missing (in 50% of the chains).
O05391	96	96	S -> F (in BofC1).
Q9Y3E2	98	98	G -> A (in dbSNP:rs1044808).
Q6PGQ7	210	210	S -> L (in dbSNP:rs9543107).
Q6PGQ7	308	308	S -> F (in dbSNP:rs1146858).
Q53HL2	12	12	K -> N (in dbSNP:rs17851453).
O14613	176	176	N -> S (in dbSNP:rs4149839).
O14613	191	191	I -> F (in dbSNP:rs7120634).
P22028	2	2	I -> V.
Q96QT5	1319	1319	N -> K (in dbSNP:rs35014998).
Q96QT5	2332	2332	Q -> R (in dbSNP:rs16888053).
Q96QT5	3720	3720	Q -> R (in dbSNP:rs4712138).
Q96QT5	5138	5138	T -> A (in dbSNP:rs4715631).
Q8N4F0	20	20	A -> V (in a colorectal cancer sample; somatic mutation).
Q8N4F0	31	31	K -> M (in dbSNP:rs6088066).
Q8N4F0	63	63	A -> V (in dbSNP:rs34128772).
Q8NFQ6	269	269	V -> A (in dbSNP:rs2076051).
Q8NFQ6	302	302	V -> L (in dbSNP:rs5994570).
Q8NFQ6	451	451	S -> P (in dbSNP:rs5998478).
Q8NFQ6	479	479	E -> A (in dbSNP:rs35856742).
Q8NFQ5	16	16	T -> M (in dbSNP:rs17301126).
Q8NFQ5	97	97	V -> I (in dbSNP:rs2070317).
Q8NFQ5	149	149	P -> T (in dbSNP:rs11907355).
Q8NFQ5	347	347	S -> G (in dbSNP:rs4911287).
Q9H203	12	12	A -> T (in dbSNP:rs5743497).
Q9H203	12	12	A -> V (in dbSNP:rs5743498).
Q9H203	16	16	A -> V (in dbSNP:rs1341023).
Q9H203	90	90	R -> C (in dbSNP:rs5743500).
Q9H203	123	123	K -> E (in dbSNP:rs5743542).
Q9H203	140	140	E -> Q (in dbSNP:rs5743506).
Q9H203	196	196	A -> V (in dbSNP:rs5743509).
Q9H203	216	216	E -> K (in dbSNP:rs4358188).
Q9H203	280	280	A -> V (in dbSNP:rs5741804).
Q9H203	377	377	V -> I (in dbSNP:rs5743524).
Q9H203	404	404	N -> D (in dbSNP:rs5741809).
Q9H203	451	451	K -> E (in dbSNP:rs5743542).
P50747	42	42	E -> D (in HLCS deficiency and a breast cancer sample; somatic mutation; conserves enzynatic wild-type activity; could be a polymorphism).
P50747	183	183	R -> P (in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant)).
P50747	216	216	L -> R (in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant); growth of patients' fibroblasts is compromised compared with normal fibroblasts; patients cells are not sensitive to biotin-depletion from the media; growth rates cannot be restored by re-administration of biotin; enzyme activity is severely compromised and cannot be increased by additional biotin; turn-over rate for the mutant protein is double that of wild-type enzyme; dbSNP:rs28934602).
P50747	237	237	L -> P (in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant)).
P50747	333	333	V -> E (in HLCS deficiency; <10% activity; has normal or low KM values for biotin (non-KM mutant)).
P50747	360	360	R -> S (in HLCS deficiency; 22% activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild- type form).
P50747	363	363	V -> D (in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant)).
P50747	456	456	Y -> C (in HLCS deficiency; 0.2% activity).
P50747	462	462	T -> I (in HLCS deficiency; <10% activity).
P50747	470	470	L -> S (in HLCS deficiency; 4.3% activity).
P50747	508	508	R -> W (in HLCS deficiency).
P50747	511	511	N -> K (in HLCS deficiency).
P50747	518	518	G -> E (in HLCS deficiency).
P50747	547	547	V -> G (in HLCS deficiency; 3.4% activity).
P50747	550	550	V -> M (in HLCS deficiency).
P50747	571	571	D -> N (in HLCS deficiency; almost no activity).
P50747	581	581	G -> S (in HLCS deficiency; <10% activity).
P50747	582	582	G -> R (in HLCS deficiency).
P50747	610	610	Missing (in HLCS deficiency; 14% of activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form).
P50747	615	615	D -> Y (in HLCS deficiency).
P50747	634	634	D -> N (in HLCS deficiency).
P50747	634	634	D -> Y (in HLCS deficiency; 12% activity).
P50747	715	715	D -> G (in HLCS deficiency).
O50712	28	28	V -> I (in strain: 297 and N40).
O50712	32	32	K -> R (in strain: N40).
O50712	38	38	D -> E (in strain: N40).
O50712	42	42	F -> L (in strain: N40).
O50712	46	46	T -> I (in strain: N40).
O50712	49	49	Y -> H (in strain: N40).
O50712	72	72	K -> E (in strain: 297 and N40).
O50712	75	79	KMIKA -> EMMKS (in strain: 297).
O50712	184	184	M -> I (in strain: 297).
O50712	206	206	L -> F (in strain: 297).
P32412	60	60	L -> F (in brevinin-1Ec).
Q9Y5U8	36	36	L -> I (in dbSNP:rs11557064).
Q9GL27	63	63	I -> M (in a bob-tailed dog; alters the ability of the protein to bind to its consensus DNA target).
O15178	177	177	G -> D (in dbSNP:rs2305089).
O15178	356	356	G -> S (in dbSNP:rs3127328).
O15178	358	358	V -> I (in dbSNP:rs77703807).
O15178	367	367	V -> M (in dbSNP:rs35292451).
O15178	369	369	N -> S (in dbSNP:rs3816300).
O15178	402	402	E -> K (in dbSNP:rs34517945).
P15056	241	241	T -> M (in a patient with Noonan syndrome).
P15056	241	241	T -> P (in a patient with LEOPARD syndrome).
P15056	241	241	T -> R (in a patient with Noonan syndrome).
P15056	245	245	L -> F (in CFC syndrome).
P15056	246	246	A -> P (in CFC syndrome).
P15056	257	257	Q -> R (in CFC syndrome).
P15056	275	275	E -> K (in CFC syndrome).
P15056	301	301	P -> S (in dbSNP:rs34776339).
P15056	462	462	R -> I (in colorectal cancer).
P15056	463	463	I -> S (in colorectal cancer).
P15056	464	464	G -> E (in colorectal cancer).
P15056	464	464	G -> V (in a colorectal cancer cell line; elevated kinase activity; efficiently induces cell transformation).
P15056	466	466	G -> A (in melanoma).
P15056	466	466	G -> E (in melanoma).
P15056	466	466	G -> V (in lung cancer).
P15056	467	467	S -> A (in CFC syndrome).
P15056	468	468	F -> S (in CFC syndrome).
P15056	469	469	G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).
P15056	469	469	G -> E (in CFC syndrome and colon cancer).
P15056	469	469	G -> R (in NHL).
P15056	469	469	G -> V (in a colorectal adenocarcinoma sample; somatic mutation).
P15056	485	485	L -> F (in CFC syndrome).
P15056	499	499	K -> E (in CFC syndrome).
P15056	499	499	K -> N (in CFC syndrome).
P15056	501	501	E -> G (in CFC syndrome).
P15056	501	501	E -> K (in CFC syndrome).
P15056	525	525	L -> P (in CFC syndrome).
P15056	531	531	W -> C (in a patient with Noonan syndrome).
P15056	581	581	N -> D (in CFC syndrome).
P15056	581	581	N -> S (in a colorectal adenocarcinoma sample; somatic mutation).
P15056	586	586	E -> K (in ovarian cancer).
P15056	594	594	D -> G (in NHL).
P15056	595	595	F -> L (in colon cancer and CFC syndrome).
P15056	596	596	G -> R (in a colorectal adenocarcinoma sample; somatic mutation).
P15056	596	596	G -> V (in CFC syndrome).
P15056	597	597	L -> R (in lung cancer and ovarian cancer; ovarian serous carcinoma sample; somatic mutation).
P15056	597	597	L -> V (in a patient with Noonan syndrome; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).
P15056	599	599	T -> R (in CFC syndrome).
P15056	600	600	V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).
P15056	600	600	V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma; somatic mutation; most common mutation; elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).
P15056	601	601	K -> E (in colorectal cancer).
P15056	601	601	K -> Q (in CFC syndrome).
P15056	638	638	D -> E (in CFC syndrome).
P15056	709	709	Q -> R (in CFC syndrome).
P38398	10	10	E -> K (in BC and BROVCA1).
P38398	11	11	V -> A (unclassified).
P38398	21	21	I -> V (unclassified).
P38398	22	22	L -> S (in BC).
P38398	23	23	E -> K (in BC and BROVCA1).
P38398	30	30	L -> F (in a breast cancer sample; somatic mutation).
P38398	61	61	C -> G (in BC and ovarian cancer; no interaction with BAP1; dbSNP:rs28897672).
P38398	64	64	C -> G (in BC; no interaction with BAP1).
P38398	64	64	C -> Y (unclassified; dbSNP:rs55851803).
P38398	71	71	R -> K (in BC; unknown pathological significance).
P38398	153	153	S -> R (in dbSNP:rs28897674).
P38398	227	227	E -> K (in ovarian cancer; could be a polymorphism).
P38398	239	239	H -> R.
P38398	271	271	V -> M (in BC).
P38398	275	275	G -> S (in dbSNP:rs8176153).
P38398	346	346	P -> S (in BC; could be a polymorphism).
P38398	356	356	Q -> R (common polymorphism; dbSNP:rs1799950).
P38398	369	369	Missing (in BC).
P38398	379	379	I -> M (unclassified; dbSNP:rs56128296).
P38398	461	461	F -> L (in BC; dbSNP:rs56046357).
P38398	465	465	Y -> D (in BC).
P38398	507	507	R -> I (unclassified).
P38398	552	552	G -> V (in BC).
P38398	656	656	N -> I.
P38398	693	693	D -> N (rare polymorphism; dbSNP:rs4986850).
P38398	723	723	N -> D (in dbSNP:rs4986845).
P38398	749	749	D -> Y (in BC).
P38398	758	758	L -> F (in a breast cancer sample; somatic mutation).
P38398	772	772	V -> A (rare polymorphism).
P38398	778	778	G -> C (in a breast cancer sample; somatic mutation).
P38398	820	820	K -> E (rare polymorphism).
P38398	826	826	T -> K (in BC).
P38398	835	835	H -> Y (in BROVCA1; unknown pathological significance).
P38398	841	841	R -> W (in BROVCA1; could be a rare polymorphism; dbSNP:rs1800709).
P38398	856	856	Y -> H (in a patient with sporadic breast cancer; unknown pathological significance).
P38398	866	866	R -> Q (in BC; unknown pathological significance).
P38398	871	871	P -> L (common polymorphism; dbSNP:rs799917).
P38398	888	888	H -> Y (in BC; unknown pathological significance).
P38398	892	892	L -> S (in BC).
P38398	925	925	I -> L (in dbSNP:rs4986847).
P38398	960	960	G -> D (in BC).
P38398	989	989	F -> S (in dbSNP:rs4986848).
P38398	1008	1008	M -> I (common polymorphism; dbSNP:rs1800704).
P38398	1025	1025	T -> I (in BC).
P38398	1038	1038	E -> G (common polymorphism; dbSNP:rs16941).
P38398	1040	1040	S -> N (rare polymorphism; dbSNP:rs4986852).
P38398	1047	1047	V -> A (in BC).
P38398	1060	1060	E -> A.
P38398	1139	1139	S -> I (in BC; unknown pathological significance).
P38398	1140	1140	S -> G (in dbSNP:rs2227945).
P38398	1150	1150	P -> S (in BC).
P38398	1183	1183	K -> R (common polymorphism; dbSNP:rs16942).
P38398	1187	1187	S -> I (in BC and BROVCA1).
P38398	1200	1200	Q -> H (in BC and BROVCA1).
P38398	1204	1204	R -> I (in BC).
P38398	1207	1207	K -> N (in BC).
P38398	1210	1210	E -> G (in BC; unknown pathological significance).
P38398	1217	1217	S -> Y (in BC and BROVCA1).
P38398	1219	1219	E -> D (unclassified).
P38398	1226	1226	F -> L (in BROVCA1).
P38398	1236	1236	N -> K (in dbSNP:rs28897687).
P38398	1243	1243	R -> G (in BROVCA1).
P38398	1250	1250	E -> K (in dbSNP:rs28897686).
P38398	1297	1297	S -> P (in BC; unknown pathological significance).
P38398	1347	1347	R -> G.
P38398	1406	1406	K -> N (polymorphism; dbSNP:rs1800707).
P38398	1411	1411	M -> T (in ovarian cancer; unknown pathological significance).
P38398	1431	1431	S -> P.
P38398	1443	1443	R -> G (rare polymorphism).
P38398	1443	1443	R -> Q (in dbSNP:rs4986849).
P38398	1512	1512	S -> I (in dbSNP:rs1800744).
P38398	1561	1561	T -> I (unclassified).
P38398	1606	1606	K -> E (unclassified).
P38398	1613	1613	S -> G (common polymorphism; dbSNP:rs1799966).
P38398	1620	1620	T -> A (in dbSNP:rs8176219).
P38398	1628	1628	M -> T (in some patients with sporadic breast cancer; unknown pathological significance; dbSNP:rs4986854).
P38398	1628	1628	M -> V (unclassified).
P38398	1637	1637	P -> L (rare polymorphism).
P38398	1641	1641	A -> P (in ovarian cancer; could be a polymorphism; dbSNP:rs1800726).
P38398	1652	1652	M -> I (rare polymorphism; dbSNP:rs1799967).
P38398	1662	1662	F -> C (in dbSNP:rs28897695).
P38398	1665	1665	V -> M.
P38398	1690	1690	K -> Q (in some patients with sporadic breast cancer; unknown pathological significance).
P38398	1692	1692	D -> N (in ovarian cancer; could be a polymorphism).
P38398	1697	1697	C -> R (in ovarian cancer).
P38398	1699	1699	R -> W (in ovarian cancer).
P38398	1708	1708	A -> E (in BC; abolishes ACACA binding).
P38398	1713	1713	V -> G.
P38398	1749	1749	P -> R (in ovarian cancer; could be a polymorphism; abolishes ACACA binding and strongly reduces BRIP1 binding).
P38398	1775	1775	M -> K (in BC; strongly reduced transcription transactivation; abolishes interaction with BRIP1 and RBBP8).
P38398	1775	1775	M -> R (in BC; alters protein stability and abolishes ACACA and BRIP1 binding).
P38398	1776	1776	P -> S (in ovarian cancer; could be a polymorphism; dbSNP:rs1800757).
P38398	1786	1786	L -> P (in BROVCA1; unknown pathological significance).
P38398	1812	1812	P -> S (in ovarian cancer; could be a polymorphism; dbSNP:rs1800751).
P48754	93	93	F -> L (in strain: 129/SvJ).
P48754	305	305	T -> S (in strain: 129/SvJ).
P48754	319	319	P -> A (in strain: 129/SvJ).
P48754	377	377	Q -> E (in strain: 129/SvJ).
P48754	550	550	K -> Q (in strain: 129/SvJ).
P48754	652	652	A -> P (in strain: 129/SvJ).
P48754	765	765	S -> P (in strain: 129/SvJ).
P48754	917	917	P -> L (in strain: 129/SvJ).
P48754	933	933	C -> S (in strain: 129/SvJ).
P48754	1122	1122	K -> I (in strain: 129/SvJ).
P48754	1206	1206	S -> R (in strain: 129/SvJ).
P48754	1212	1213	RM -> GI (in strain: 129/SvJ).
P48754	1255	1255	S -> R (in strain: 129/SvJ).
P48754	1261	1261	H -> N (in strain: 129/SvJ).
P48754	1264	1264	V -> A (in strain: 129/SvJ).
P48754	1269	1269	P -> A (in strain: 129/SvJ).
P48754	1283	1283	T -> K (in strain: 129/SvJ).
P48754	1337	1337	T -> N (in strain: 129/SvJ).
P48754	1349	1349	P -> T (in strain: 129/SvJ).
P48754	1352	1353	EG -> QR (in strain: 129/SvJ).
P48754	1381	1381	S -> P (in strain: 129/SvJ).
P48754	1390	1390	G -> A (in strain: 129/SvJ).
P48754	1400	1400	V -> D (in strain: 129/SvJ).
P48754	1503	1503	E -> Q (in strain: 129/SvJ).
P48754	1549	1549	V -> A (in strain: 129/SvJ).
P48754	1680	1680	T -> K (in strain: 129/SvJ).
P48754	1712	1712	D -> E (in strain: 129/SvJ).
P48754	1721	1721	D -> E (in strain: 129/SvJ).
Q9GKK8	309	309	K -> E.
Q9GKK8	590	590	S -> G.
Q9GKK8	731	731	K -> E.
Q9GKK8	1100	1100	G -> E.
Q9W157	242	242	E -> K (in strain: Zimbabwe30).
P51587	25	25	G -> R (in BC; abolishes interaction with PALB2).
P51587	31	31	W -> C (in BC; abolishes interaction with PALB2).
P51587	31	31	W -> R (in BC; abolishes interaction with PALB2).
P51587	32	32	F -> L (in BC).
P51587	42	42	Y -> C (in BC and ovarian cancer; unknown pathological significance; dbSNP:rs4987046).
P51587	53	53	K -> R (in BC).
P51587	60	60	N -> S (in BC; unknown pathological significance).
P51587	64	64	T -> I (in BC).
P51587	75	75	A -> P (in ovarian cancer and renal cancer; could be a polymorphism; dbSNP:rs28897701).
P51587	81	81	F -> L (in BC).
P51587	108	108	N -> H.
P51587	118	118	R -> H (in one patient with esophageal carcinoma).
P51587	192	192	M -> T (in one patient with pancreatic cancer).
P51587	201	201	P -> R (in BC).
P51587	211	211	V -> A (in BC).
P51587	222	222	P -> S (in BC).
P51587	225	225	T -> A (in one patient with BC; normal RNA expression and splicing).
P51587	289	289	N -> H (common polymorphism; was originally thought to be linked to ovarian cancer; dbSNP:rs766173).
P51587	315	315	C -> S (in one patient with esophageal carcinoma).
P51587	322	322	K -> Q (in dbSNP:rs11571640).
P51587	326	326	S -> R (in BC; dbSNP:rs28897706).
P51587	327	327	K -> E (in BC; could be a polymorphism).
P51587	355	355	V -> L (in lung cancer).
P51587	372	372	H -> N (common polymorphism; associated with an increased risk of breast cancer and with an effect on prenatal viability with increased fitness of males and decreased fitness of females; dbSNP:rs144848).
P51587	405	405	G -> R (in BC; unknown pathological significance).
P51587	431	431	T -> I (in BC; unknown pathological significance).
P51587	448	448	R -> H (in BC; unknown pathological significance).
P51587	462	462	E -> G (in BC; unknown pathological significance; dbSNP:rs56403624).
P51587	505	505	I -> T (in BC; dbSNP:rs28897708).
P51587	513	513	K -> R (in dbSNP:rs28897709).
P51587	554	554	C -> W (in BC and pancreas cancer).
P51587	582	582	T -> P.
P51587	598	598	T -> A (in dbSNP:rs28897710).
P51587	599	599	S -> F (in dbSNP:rs1046984).
P51587	613	613	L -> R (in BC; unknown pathological significance).
P51587	630	630	T -> I (in ovarian cancer).
P51587	707	707	D -> Y.
P51587	728	728	D -> A (in BC).
P51587	729	729	I -> M (in BC).
P51587	784	784	M -> V (in dbSNP:rs11571653).
P51587	886	886	N -> I.
P51587	929	929	L -> S (in dbSNP:rs2227943).
P51587	935	935	D -> N (in BC; could be a polymorphism; dbSNP:rs28897716).
P51587	976	976	S -> F (in dbSNP:rs11571656).
P51587	982	982	I -> L (in dbSNP:rs28897717).
P51587	987	987	N -> I (in dbSNP:rs2227944).
P51587	991	991	N -> D (common polymorphism; dbSNP:rs1799944).
P51587	1036	1036	E -> K (in BC; unknown pathological significance).
P51587	1106	1106	S -> R (in BC; unknown pathological significance).
P51587	1147	1147	N -> S (in dbSNP:rs1799951).
P51587	1172	1172	S -> L (in BC; unknown pathological significance).
P51587	1179	1179	S -> N (in BC).
P51587	1279	1279	N -> S.
P51587	1286	1286	Missing.
P51587	1290	1290	C -> Y.
P51587	1302	1302	Missing (in BC).
P51587	1414	1414	T -> M.
P51587	1420	1420	D -> Y.
P51587	1445	1445	K -> T (in BC; unknown pathological significance).
P51587	1513	1513	D -> N.
P51587	1522	1522	L -> F (in one patient with BC).
P51587	1524	1524	F -> V (in BC; unknown pathological significance).
P51587	1529	1529	G -> R (in bladder cancer).
P51587	1542	1542	V -> M (in dbSNP:rs28897729).
P51587	1561	1561	H -> N.
P51587	1580	1580	C -> Y (in BC; somatic mutation).
P51587	1593	1593	E -> D.
P51587	1643	1643	V -> A (in dbSNP:rs28897731).
P51587	1679	1679	T -> I (in BC).
P51587	1690	1690	K -> N (in BC).
P51587	1730	1730	N -> Y (in BC).
P51587	1771	1771	G -> D (in BC; unknown pathological significance).
P51587	1804	1804	V -> A (in BC).
P51587	1805	1805	N -> S.
P51587	1880	1880	N -> K (polymorphism; was originally thought to be linked to breast cancer; dbSNP:rs11571657).
P51587	1887	1887	T -> M (in BC).
P51587	1901	1901	E -> K (in BC).
P51587	1902	1902	D -> N.
P51587	1915	1915	T -> M (may be a rare polymorphism; somatic mutation; dbSNP:rs4987117).
P51587	1929	1929	I -> V (in BC; unknown pathological significance).
P51587	1979	1979	S -> R (in dbSNP:rs28897737).
P51587	1988	1988	V -> I (in one patient with esophageal carcinoma; somatic mutation).
P51587	2031	2031	T -> A (in BC; unknown pathological significance).
P51587	2034	2034	R -> C (in dbSNP:rs1799954).
P51587	2044	2044	G -> V (in one patient with BC).
P51587	2072	2072	S -> C (in BC).
P51587	2074	2074	H -> N.
P51587	2089	2089	E -> D (in BC).
P51587	2094	2094	Y -> C (in BC).
P51587	2096	2096	P -> L (in BC).
P51587	2108	2108	R -> C.
P51587	2116	2116	H -> R (in dbSNP:rs55953736).
P51587	2118	2118	V -> L (in BC; unknown pathological significance).
P51587	2128	2128	K -> N (in BC).
P51587	2135	2135	N -> H (in BC).
P51587	2138	2138	V -> F.
P51587	2162	2162	K -> R.
P51587	2222	2222	Y -> C (in BC).
P51587	2238	2238	D -> E (in dbSNP:rs28897742).
P51587	2274	2274	G -> V (in BC).
P51587	2275	2275	E -> G (in BC; unknown pathological significance).
P51587	2293	2293	F -> L (in BC; unknown pathological significance).
P51587	2336	2336	R -> H (in FANCD1).
P51587	2336	2336	R -> Q (in dbSNP:rs28897743).
P51587	2353	2353	G -> R (in BC; unknown pathological significance).
P51587	2415	2415	H -> N (in BC).
P51587	2421	2421	Q -> H (in BC).
P51587	2440	2440	H -> R.
P51587	2447	2447	N -> D (in dbSNP:rs4986859).
P51587	2456	2456	Q -> E (in BC).
P51587	2466	2466	A -> V (polymorphism; was originally thought to be linked to ovarian cancer).
P51587	2480	2480	L -> V.
P51587	2488	2488	R -> K (in BC; unknown pathological significance).
P51587	2490	2490	I -> T.
P51587	2502	2502	R -> H (in ovarian cancer; could be a polymorphism).
P51587	2510	2510	L -> P (in FANCD1).
P51587	2515	2515	T -> I (in BC; could be a polymorphism).
P51587	2626	2626	W -> C (in FANCD1).
P51587	2686	2686	L -> P (in dbSNP:rs28897746).
P51587	2706	2706	N -> S.
P51587	2722	2722	T -> R (in BC).
P51587	2723	2723	D -> H (in BC; unknown pathological significance).
P51587	2728	2728	V -> I (in BC).
P51587	2729	2729	K -> N (in BC).
P51587	2787	2787	R -> H (in ovarian cancer; somatic mutation).
P51587	2792	2792	L -> P (in dbSNP:rs28897751).
P51587	2793	2793	G -> R (in BC; unknown pathological significance).
P51587	2835	2835	S -> P.
P51587	2842	2842	R -> C (in one patient with esophageal carcinoma; somatic mutation).
P51587	2856	2856	E -> A.
P51587	2944	2944	I -> F.
P51587	2950	2950	K -> N (in BC; unknown pathological significance).
P51587	2951	2951	A -> T.
P51587	2969	2969	V -> M.
P51587	3013	3013	T -> I (in BC; unknown pathological significance).
P51587	3063	3063	P -> S (in a patient with ovarian cancer; unknown pathological significance).
P51587	3076	3076	G -> E.
P51587	3095	3095	D -> E.
P51587	3098	3098	Y -> H (in BC and ovarian cancer; could be a polymorphism).
P51587	3101	3101	L -> R (in dbSNP:rs28897758).
P51587	3103	3103	I -> M (in melanoma).
P51587	3118	3118	M -> T (in BC).
P51587	3124	3124	N -> I (in BC).
P51587	3196	3196	K -> E (in BC).
P51587	3244	3244	V -> I.
P51587	3257	3257	K -> R.
P51587	3276	3276	R -> S.
P51587	3300	3300	P -> S (in one patient with esophageal carcinoma).
P51587	3357	3357	T -> R (in BC).
P51587	3374	3374	T -> I.
P51587	3412	3412	I -> V (polymorphism; was originally thought to be associated with breast cancer; dbSNP:rs1801426).
P97929	44	44	S -> F (in strain: C57BL/6 and 129/Sv).
P97929	340	340	T -> P (in strain: 129/Sv).
P97929	377	377	N -> H (in strain: C57BL/6).
P97929	407	407	H -> P (in strain: C57BL/6).
P97929	661	661	I -> V (in strain: C57BL/6).
P97929	739	739	P -> H (in strain: C57BL/6).
P97929	1038	1038	I -> L (in strain: C57BL/6 and 129/Sv).
P97929	1198	1199	GF -> RI (in strain: C57BL/6).
P97929	1257	1257	Q -> P (in strain: C57BL/6).
P97929	1392	1392	Q -> R (in strain: C57BL/6).
P97929	1520	1521	FD -> CG (in strain: C57BL/6).
P97929	1583	1583	R -> W (in strain: C57BL/6).
P97929	1613	1613	C -> W (in strain: C57BL/6).
P97929	1686	1686	S -> R (in strain: C57BL/6).
P97929	1799	1799	S -> F (in strain: 129/Sv).
P97929	1881	1881	P -> L (in strain: C57BL/6).
P97929	1894	1894	S -> F (in strain: 129/Sv).
P97929	2141	2141	Q -> K (in strain: C57BL/6).
P97929	2392	2392	S -> R (in strain: C57BL/6).
P97929	2605	2605	K -> Q (in strain: C57BL/6).
P97929	2648	2648	A -> P (in strain: C57BL/6).
P97929	2717	2717	R -> C (in strain: 129/Sv).
P97929	2729	2729	L -> M (in strain: 129/Sv).
P97929	2814	2814	Q -> H (in strain: C57BL/6).
P97929	2827	2827	A -> P (in strain: C57BL/6).
P97929	2907	2907	S -> I (in strain: 129/Sv).
P97929	2929	2929	H -> L (in strain: 129/Sv).
P97929	3058	3058	A -> G (in strain: C57BL/6).
P97929	3071	3071	A -> G (in strain: C57BL/6).
P97929	3081	3081	K -> E (in strain: C57BL/6).
P97929	3089	3089	T -> S (in strain: C57BL/6).
P97929	3105	3109	DSPKW -> SQSQV (in strain: C57BL/6).
P97929	3220	3220	A -> G (in strain: 129/Sv).
P97929	3238	3238	E -> K (in strain: 129/Sv).
P97929	3243	3243	Missing (in strain: C57BL/6).
P97929	3245	3245	R -> K (in strain: 129/Sv).
B4DQN7	74	74	I -> V (in dbSNP:rs28997578).
O95696	38	38	R -> G (in dbSNP:rs11549978).
O95696	321	321	A -> S (in dbSNP:rs12157714).
O95696	730	730	A -> T (in dbSNP:rs35331092).
Q969U4	30	30	G -> E (in a glioblastoma multiforme sample; somatic mutation).
Q969U4	49	49	A -> G.
Q969U4	49	49	A -> S (in dbSNP:rs55669504).
Q969U4	212	212	A -> P (in dbSNP:rs35952031).
Q969U4	238	238	L -> F (in dbSNP:rs176250).
Q969U4	260	260	P -> Q (in dbSNP:rs35294809).
Q969U4	474	474	A -> V (in dbSNP:rs3918143).
Q969U4	547	547	R -> K (in dbSNP:rs1049369).
Q969U4	558	558	R -> G (in a gastric adenocarcinoma sample; somatic mutation).
Q969U4	569	569	A -> T (in dbSNP:rs34530779).
Q969U4	599	599	A -> P (in dbSNP:rs55952113).
Q969U4	714	714	P -> L (in a glioblastoma multiforme sample; somatic mutation).
Q15059	36	36	T -> N (in a renal clear cell carcinoma sample; somatic mutation).
Q15059	161	161	A -> T (in a gastric adenocarcinoma sample; somatic mutation).
Q15059	172	172	A -> V (in dbSNP:rs34609592).
Q15059	435	435	K -> Q (in dbSNP:rs36093130).
Q15059	441	441	R -> H (in dbSNP:rs56017928).
Q15059	447	447	S -> P (in dbSNP:rs55754444).
O60885	37	37	P -> S (in dbSNP:rs35177876).
O60885	371	371	A -> G (in dbSNP:rs55805532).
O60885	563	563	S -> N (in dbSNP:rs55970906).
O60885	598	598	T -> S (in dbSNP:rs34362023).
O60885	669	669	R -> H (in dbSNP:rs35824241).
O60885	1097	1097	R -> H (in dbSNP:rs35676845).
Q9H0E9	490	490	T -> M (in dbSNP:rs11750814).
Q9H0E9	896	896	L -> P (in dbSNP:rs6883021).
Q9H0E9	1198	1198	R -> Q (in dbSNP:rs412051).
Q9H8M2	170	170	A -> T (in dbSNP:rs34292369).
Q9H8M2	266	266	A -> T (in dbSNP:rs34292369).
Q9H8M2	389	389	A -> T (in dbSNP:rs414349).
Q58F21	2	2	S -> F (in dbSNP:rs55806733).
Q58F21	6	6	R -> Q (in dbSNP:rs56273490).
Q58F21	62	62	Q -> K (in dbSNP:rs10783071).
Q58F21	89	89	A -> V (in a gastric adenocarcinoma sample; somatic mutation).
Q58F21	238	238	K -> N (in dbSNP:rs1156281).
Q58F21	288	288	H -> Y (in a lung neuroendocrine carcinoma sample; somatic mutation).
Q58F21	336	336	K -> T (in dbSNP:rs1064567).
Q58F21	357	357	E -> K (in dbSNP:rs34674879).
Q58F21	410	410	N -> K (in dbSNP:rs3088232).
Q58F21	542	542	P -> A (in dbSNP:rs55912588).
Q58F21	605	605	R -> Q (in dbSNP:rs35327986).
Q58F21	696	696	P -> L (in dbSNP:rs10747493).
O75150	463	463	R -> H (in dbSNP:rs11556801).
O75150	615	615	R -> Q (in dbSNP:rs7195142).
Q5KBI0	317	317	A -> T (in strain: B-3501A).
O95415	123	123	T -> A (in dbSNP:rs12865).
Q5KE13	141	141	T -> P (in strain: B-3501A).
Q5KE13	243	243	A -> T (in strain: B-3501A).
Q5KE13	465	465	A -> G (in strain: B-3501A).
Q5KE13	562	562	P -> S (in strain: B-3501A).
Q5KE13	940	940	K -> E (in strain: B-3501A).
Q96NH3	82	82	R -> Q (in dbSNP:rs7767455).
Q96NH3	280	280	I -> V (in dbSNP:rs9490157).
Q96NH3	375	375	T -> K (in dbSNP:rs9387944).
Q96NH3	599	599	I -> V (in dbSNP:rs7745023).
P55201	1117	1117	G -> E (in dbSNP:rs1042294).
P55201	1193	1193	H -> Q (in dbSNP:rs36081837).
Q9ULD4	177	177	S -> G (in dbSNP:rs45504893).
Q9ULD4	278	278	A -> G (in dbSNP:rs17658935).
P32247	53	53	T -> P (in dbSNP:rs5232).
P32247	162	162	L -> Q (in dbSNP:rs5234).
Q8TDC3	319	319	R -> W (in a gastric adenocarcinoma sample; somatic mutation).
Q8TDC3	335	335	V -> I (in a lung large cell carcinoma sample; somatic mutation).
Q8TDC3	407	407	G -> E (in a metastatic melanoma sample; somatic mutation).
Q8TDC3	547	547	T -> N (in dbSNP:rs55892637).
Q8TDC3	765	765	G -> S.
Q8TDC3	780	780	P -> A (in dbSNP:rs55796422).
Q9NSI6	83	83	Q -> E (in dbSNP:rs2056844).
Q9NSI6	1511	1511	S -> P (in dbSNP:rs2183573).
Q9NSI6	1699	1699	P -> L (in dbSNP:rs1041439).
Q9NSI6	2156	2156	K -> R (in dbSNP:rs2234548).
Q6RI45	1288	1288	R -> K (in dbSNP:rs3122407).
Q6RI45	1596	1596	K -> E (in MRX93; may be a rare polymorphism).
Q17TI5	141	344	Missing (in strain: cv. Uk-1).
Q17TI5	310	310	T -> S (in strain: cv. Uk-2).
P53841	3	3	I -> V (in strain: XH1549).
P53841	6	6	R -> Q (in strain: AS2.101, AS2.1406, AS2.179, AS2.7, AS2.724, AS2.771, AS2.820 and AS2.93).
P53841	9	10	NK -> T (in strain: XH1549).
P53841	16	16	I -> L (in strain: XH1549).
P53841	19	19	K -> Q (in strain: XH1549).
P53841	22	22	T -> S (in strain: XH1549).
P53841	32	32	V -> G (in strain: XH1549).
P53841	42	42	S -> N (in strain: AS2.101, AS2.1406, AS2.179, AS2.7, AS2.724, AS2.771, AS2.820, AS2.93 and XH1549).
P53841	92	92	R -> H (in strain: AS2.724 and AS2.820).
Q96G97	88	88	N -> S (in SPG17 and DSMAV).
Q96G97	90	90	S -> L (in SPG17 and DSMAV).
Q96G97	212	212	A -> P (in CGL2).
Q8WZ55	8	8	R -> L (in BS4A; completely abolishes CLCNKA activation; mutated protein fails to increase surface expression of CLCNKA; intracellular localization; probably retained in the ER).
Q8WZ55	8	8	R -> W (in BS4A; completely abolishes CLCNKA activation).
Q8WZ55	10	10	G -> S (in BS4A; increases CLCNKA currents over those obtained with wild- type; still activates CLCNKA to an extent similar to that of wild-type; intracellular but some plasma membrane localization as well).
Q8WZ55	43	43	V -> I (in dbSNP:rs34561376).
Q8WZ55	47	47	G -> R (in BS4A; atypical; might be due to a less severe loss of function).
Q9UPA5	741	741	A -> T (in dbSNP:rs34762726).
Q9UPA5	1213	1213	G -> D (in dbSNP:rs35762866).
Q9UPA5	3863	3863	A -> T (in dbSNP:rs2005557).
Q5W0U4	261	261	A -> P (in dbSNP:rs34089316).
Q5W0U4	293	293	Q -> H (in dbSNP:rs818711).
Q5W0U4	374	374	T -> I (in dbSNP:rs3088235).
Q5KF48	559	559	Y -> C (in strain: B-3501A).
Q5KF48	591	591	P -> S (in strain: B-3501A).
Q5KF48	708	708	V -> A (in strain: B-3501A).
Q10588	77	77	A -> V (in dbSNP:rs2302466).
Q10588	101	101	I -> V (in dbSNP:rs6840615).
Q10588	125	125	R -> H (in dbSNP:rs2302465).
Q10588	145	145	R -> Q (in dbSNP:rs2302464).
Q10589	143	143	V -> F (in dbSNP:rs1804402).
Q13410	213	213	T -> A (in dbSNP:rs3736781).
Q13410	303	303	V -> A (in dbSNP:rs1980600).
Q13410	503	503	D -> E (in dbSNP:rs9393728).
Q13410	521	521	P -> S (in dbSNP:rs35555795).
Q7KYR7	124	124	R -> C (in dbSNP:rs3734539).
Q7KYR7	178	178	W -> C (in dbSNP:rs13195402).
Q7KYR7	178	178	W -> L (in dbSNP:rs13195401).
Q7KYR7	207	207	V -> M (in dbSNP:rs13195509).
Q7KYR7	378	378	R -> Q (in dbSNP:rs3734542).
Q7KYR7	451	451	G -> A (in dbSNP:rs3734543).
Q8WVV5	479	479	P -> S (in dbSNP:rs16891646).
Q96KV6	79	79	G -> D (in dbSNP:rs7745238).
Q96KV6	148	148	V -> I (in dbSNP:rs10946829).
Q96KV6	300	300	N -> S (in dbSNP:rs2893848).
O00481	15	15	R -> H (in dbSNP:rs56161420).
O00481	224	224	S -> N (in dbSNP:rs1057933).
O00481	282	282	R -> T (in dbSNP:rs41266839).
O00481	456	456	P -> T (in dbSNP:rs4712990).
P78410	167	167	R -> T (in dbSNP:rs9379861).
P78410	181	181	N -> D (in dbSNP:rs9358936).
P78410	182	182	A -> T (in dbSNP:rs12205731).
P78410	211	211	R -> K (in dbSNP:rs35183513).
P78410	307	307	S -> N (in dbSNP:rs13216828).
Q5XKL5	60	60	V -> I (in dbSNP:rs34856868).
Q5XKL5	136	136	K -> R (in dbSNP:rs17131602).
Q9BSF8	145	145	T -> A (in dbSNP:rs34185489).
A6QL63	448	448	G -> S (in dbSNP:rs1558781).
A6QL63	1002	1002	A -> D (in dbSNP:rs11610050).
A6QL63	1076	1076	G -> S (in dbSNP:rs12303478).
Q32M84	318	318	R -> Q (in dbSNP:rs2421013).
Q32M84	331	331	G -> D (in dbSNP:rs986178).
Q32M84	439	439	H -> P (in dbSNP:rs1048347).
Q32M84	472	472	Q -> R (in dbSNP:rs10510108).
B2RXH4	302	302	S -> T (in dbSNP:rs78162678).
B2RXH4	352	352	E -> G (in dbSNP:rs77600568).
C9JJ37	110	110	E -> G (in dbSNP:rs78531751).
P35070	7	7	C -> G (in dbSNP:rs28549760).
P35070	44	44	L -> F (in dbSNP:rs56320257).
P35070	124	124	L -> M (in dbSNP:rs11938093).
P43251	128	128	F -> V (in BTD deficiency).
P43251	171	171	A -> T (in BTD deficiency; dbSNP:rs13073139).
P43251	228	228	D -> Y (in BTD deficiency).
P43251	323	323	H -> R (in BTD deficiency; partial).
P43251	391	391	P -> S (in dbSNP:rs35034250).
P43251	444	444	D -> H (in BTD deficiency; profound and partial; 52% decrease in activity; dbSNP:rs13078881).
P43251	451	451	G -> D (in BTD deficiency; partial).
P43251	456	456	Q -> H (in BTD deficiency).
P43251	532	532	T -> M (in BTD deficiency).
P43251	538	538	R -> C (in BTD deficiency).
P62324	139	139	N -> S (in dbSNP:rs28399541).
P62324	141	141	Q -> E (in dbSNP:rs28399542).
P78543	153	153	V -> M (in dbSNP:rs12039961).
Q06187	11	11	L -> P (in XLA).
Q06187	12	12	K -> R (in XLA).
Q06187	14	14	S -> F (in XLA).
Q06187	19	19	K -> E (in XLA).
Q06187	25	25	F -> S (in XLA).
Q06187	27	27	K -> R (in XLA).
Q06187	28	28	R -> C (in XLA; no effect on phosphorylation of GTF2I).
Q06187	28	28	R -> H (in XLA; moderate).
Q06187	28	28	R -> P (in XLA).
Q06187	33	33	T -> P (in XLA; severe).
Q06187	39	39	Y -> S (in XLA).
Q06187	40	40	Y -> C (in XLA).
Q06187	40	40	Y -> N (in XLA).
Q06187	61	61	I -> N (in XLA).
Q06187	64	64	V -> D (in XLA).
Q06187	64	64	V -> F (in XLA).
Q06187	82	82	R -> K (in dbSNP:rs56035945).
Q06187	103	103	Q -> QSVFSSTR (in XLA).
Q06187	113	113	V -> D (in XLA).
Q06187	115	115	S -> F (in XLA).
Q06187	117	117	T -> P (in XLA).
Q06187	127	127	Q -> H (in XLA).
Q06187	154	154	C -> S (in XLA).
Q06187	155	155	C -> G (in XLA).
Q06187	155	155	C -> R (in XLA).
Q06187	184	184	T -> P (in XLA).
Q06187	190	190	P -> K (in a lung large cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions).
Q06187	260	280	Missing (in XLA; severe).
Q06187	288	288	R -> Q (in XLA).
Q06187	288	288	R -> W (in XLA).
Q06187	295	295	L -> P (in XLA).
Q06187	302	302	G -> E (in XLA).
Q06187	302	302	G -> R (in XLA).
Q06187	302	302	Missing (in XLA).
Q06187	307	307	R -> G (in XLA; loss of activity).
Q06187	307	307	R -> T (in XLA).
Q06187	308	308	D -> E (in XLA).
Q06187	319	319	V -> A (in XLA; moderate).
Q06187	334	334	Y -> S (in XLA).
Q06187	358	358	L -> F (in XLA).
Q06187	361	361	Y -> C (in XLA; mild; dbSNP:rs28935478).
Q06187	362	362	H -> Q (in XLA).
Q06187	364	364	H -> P (in XLA).
Q06187	365	365	N -> Y (in XLA).
Q06187	366	366	S -> F (in XLA).
Q06187	369	369	L -> F (in XLA).
Q06187	370	370	I -> M (in XLA).
Q06187	372	372	R -> G (in XLA).
Q06187	408	408	L -> P (in XLA; moderate).
Q06187	414	414	G -> R (in XLA).
Q06187	418	418	Y -> H (in XLA).
Q06187	429	429	I -> N (in XLA).
Q06187	430	430	K -> E (in XLA; loss of phosphorylation of GTF2I).
Q06187	430	430	K -> R (in XLA).
Q06187	445	445	E -> D (in XLA).
Q06187	462	462	G -> D (in XLA).
Q06187	462	462	G -> V (in XLA).
Q06187	476	476	Y -> D (in XLA).
Q06187	477	477	M -> R (in XLA).
Q06187	502	502	C -> F (in XLA).
Q06187	502	502	C -> W (in XLA).
Q06187	506	506	C -> R (in XLA).
Q06187	506	506	C -> Y (in XLA).
Q06187	508	508	A -> D (in XLA).
Q06187	509	509	M -> I (in XLA).
Q06187	509	509	M -> V (in XLA).
Q06187	512	512	L -> P (in XLA).
Q06187	512	512	L -> Q (in XLA).
Q06187	518	518	L -> R (in XLA).
Q06187	520	520	R -> Q (in XLA; severe; prevents activation due to absence of contact between the catalytic loop and the regulatory phosphorylated residue).
Q06187	521	521	D -> G (in XLA).
Q06187	521	521	D -> H (in XLA; severe).
Q06187	521	521	D -> N (in XLA; severe).
Q06187	523	523	A -> E (in XLA).
Q06187	525	525	R -> G (in XLA).
Q06187	525	525	R -> P (in XLA).
Q06187	525	525	R -> Q (in XLA; severe; disturbs ATP- binding).
Q06187	526	526	N -> K (in XLA).
Q06187	535	535	V -> F (in XLA).
Q06187	542	542	L -> P (in XLA; growth hormone deficiency).
Q06187	544	544	R -> G (in XLA).
Q06187	544	544	R -> K (in XLA).
Q06187	559	559	F -> S (in XLA).
Q06187	562	562	R -> P (in XLA; dbSNP:rs28935176).
Q06187	562	562	R -> W (in XLA).
Q06187	563	563	W -> L (in XLA).
Q06187	567	567	E -> K (in XLA; severe).
Q06187	578	578	S -> Y (in XLA).
Q06187	581	581	W -> R (in XLA).
Q06187	582	582	A -> V (in XLA).
Q06187	583	583	F -> S (in XLA).
Q06187	587	587	M -> L (in XLA; mild).
Q06187	589	589	E -> D (in XLA).
Q06187	589	589	E -> G (in XLA; moderate; interferes with substrate binding).
Q06187	589	589	E -> K (in XLA).
Q06187	592	592	S -> P (in XLA).
Q06187	594	594	G -> E (in XLA; mild; interferes with substrate binding).
Q06187	594	594	G -> R (in XLA).
Q06187	598	598	Y -> C (in XLA).
Q06187	607	607	A -> D (in XLA; mild).
Q06187	613	613	G -> D (in XLA; mild; interferes with substrate binding and/or domain interactions).
Q06187	619	619	P -> A (in XLA).
Q06187	619	619	P -> S (in XLA).
Q06187	619	619	P -> T (in XLA).
Q06187	622	622	A -> P (in XLA).
Q06187	626	626	V -> G (in XLA).
Q06187	630	630	M -> I (polymorphism, 35%).
Q06187	630	630	M -> K (in XLA).
Q06187	630	630	M -> T (in XLA).
Q06187	633	633	C -> Y (in XLA).
Q06187	641	641	R -> C (in XLA).
Q06187	641	641	R -> H (in XLA; severe).
Q06187	644	644	F -> L (in XLA).
Q06187	644	644	F -> S (in XLA).
Q06187	647	647	L -> P (in XLA).
Q06187	652	652	L -> P (in XLA).
P35991	28	28	R -> C (in XID; prevents interaction with ARID3A).
Q7Z6A9	124	124	I -> V (in dbSNP:rs16859633).
Q7Z6A9	157	157	R -> S (in dbSNP:rs2931761).
Q7Z6A9	267	267	P -> L (in dbSNP:rs9288952).
Q7TSA3	41	41	P -> E (in strain: 129/SvEv; requires 2 nucleotide substitutions).
Q7TSA3	45	47	TIT -> NIK (in strain: 129/SvEv).
Q7TSA3	52	52	Q -> H (in strain: 129/SvEv).
Q7TSA3	55	55	R -> W (in strain: 129/SvEv).
Q7TSA3	63	63	Q -> E (in strain: 129/SvEv).
Q7TSA3	85	85	C -> W (in strain: 129/SvEv).
Q7TSA3	91	91	S -> G (in strain: 129/SvEv).
Q7TSA3	102	102	Q -> R (in strain: 129/SvEv).
Q7TSA3	143	143	R -> T (in strain: C57BL/6J).
Q59LX9	396	396	T -> I (in allele CaO19.11541).
Q5KFV4	14	14	L -> M (in strain: B-3501A).
Q5KFV4	214	214	M -> T (in strain: B-3501A).
Q5KFV4	440	440	S -> SS (in strain: B-3501A).
Q5KFV4	450	450	D -> E (in strain: B-3501A).
Q5KFV4	460	460	V -> L (in strain: B-3501A).
P47040	181	181	Y -> F (in strain: K289-3A).
P47040	328	328	H -> R (in strain: K289-3A).
Q5SU36	94	94	W -> R (in dbSNP:rs28362682).
Q5SU36	181	181	R -> Q (in dbSNP:rs28362681).
Q5SU36	188	188	V -> M (in dbSNP:rs9461742).
Q5SU36	196	196	K -> E (in dbSNP:rs2076523).
Q5SU36	202	202	A -> V (in dbSNP:rs28362680).
Q5SU36	283	283	D -> V (in dbSNP:rs34423804).
Q5SU36	334	334	S -> L (in dbSNP:rs28362679).
Q5SU36	352	352	A -> T (in dbSNP:rs35037492).
Q5SU36	360	360	S -> G (in dbSNP:rs2076530).
Q5SU36	379	379	P -> L (in dbSNP:rs28362678).
Q5SU36	380	380	M -> I (in dbSNP:rs28362677).
Q5SU36	393	393	P -> Q (in dbSNP:rs41521946).
Q6UX41	143	143	T -> A (in dbSNP:rs2276995).
Q6UX41	229	229	E -> K (in dbSNP:rs7724813).
Q6UXG8	511	511	G -> R (in dbSNP:rs10068763).
P72966	51	51	V -> G (in strain: BP26; photosynthesis- deficient).
Q59HH6	15	15	M -> T (in a colorectal cancer cell line).
Q59HH6	36	36	R -> Q (in PCS).
Q59HH6	40	40	T -> M (in dbSNP:rs56079734).
Q59HH6	349	349	R -> Q (in dbSNP:rs1801376).
Q59HH6	378	378	P -> S (in dbSNP:rs17851677).
Q59HH6	390	390	E -> D (in dbSNP:rs1017842).
Q59HH6	550	550	R -> Q (in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989187).
Q59HH6	618	618	V -> A (in colorectal cancer; dbSNP:rs1801528).
Q59HH6	814	814	R -> H (in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989182).
Q59HH6	844	844	L -> F (in MVA; associated with H-921; heterozygous compound with nonsense mutation; dbSNP:rs28989181).
Q59HH6	909	909	I -> T (in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989184).
Q59HH6	921	921	Q -> H (in MVA; associated with F-844; heterozygous compound with nonsense mutation; dbSNP:rs28989183).
Q59HH6	1012	1012	L -> P (in MVA; heterozygous compound with nonsense mutation; dbSNP:rs28989185).
O43683	20	20	G -> D (in dbSNP:rs35890336).
O43683	36	36	E -> D (in colorectal cancer; dbSNP:rs1801328).
O43683	259	259	Y -> C (in pancreatic cancer; associated with N-265; failure to rescue the spindle-assembly checkpoint activity as a result of a deficient recruitment of MAD2L1 and BUBR1 to kinetochores; efficient restoration of chromosome congression; reduced binding to BUB3; rescue of the ability of kinetochores to bind SGOL1 and CENPF but not MCAK).
O43683	265	265	H -> N (in pancreatic cancer; associated with C-259; complete rescue of the spindle-assembly checkpoint activity; increased rate of chromosome congression errors).
O43683	492	492	S -> Y (in colorectal cancer).
O43683	534	534	N -> D (in dbSNP:rs36109304).
O43683	648	648	P -> R (in colorectal cancer).
Q9BRD0	120	120	R -> C (in dbSNP:rs10488698).
Q9BRD0	148	148	P -> L (in dbSNP:rs11820589).
Q9BRD0	242	242	R -> I (in dbSNP:rs11216131).
Q9BRD0	388	388	S -> C (in dbSNP:rs35004487).
P53705	123	123	T -> A (in allele: CaO19.11733 and in strain: ATCC 10261).
P53705	158	158	S -> P (in allele: CaO19.11733).
P53705	190	190	V -> I (in allele: CaO19.11733).
P53705	215	215	V -> A (in allele: CaO19.11733 and in strain: ATCC 10261).
P53705	224	224	A -> V (in strain: ATCC 10261).
P53705	254	254	S -> L (in strain: ATCC 10261).
P53705	313	313	H -> R (in strain: ATCC 10261).
P53705	405	405	D -> N (in strain: ATCC 10261).
P53705	413	413	T -> V (in strain: ATCC 10261).
P53705	457	457	N -> H (in strain: ATCC 10261).
P53705	523	525	KQI -> RQT (in strain: ATCC 10261).
P53705	714	714	F -> L (in strain: ATCC 10261).
P53705	723	723	S -> L (in strain: ATCC 10261).
P53705	845	845	S -> F (in strain: ATCC 10261).
P53705	1114	1114	Missing (in allele: CaO19.11733 and in strain: ATCC 10261).
P53705	1149	1149	A -> T (in allele: CaO19.11733).
P53705	1172	1172	P -> Q (in allele: CaO19.11733 and in strain: ATCC 10261).
P53705	1186	1186	N -> K (in allele: CaO19.11733 and in strain: ATCC 10261).
P53705	1315	1315	D -> V (in allele: CaO19.11733 and in strain: ATCC 10261).
P53705	1332	1337	QKHHHR -> HHHRYH (in allele: CaO19.11733).
P53705	1341	1341	H -> D (in allele: CaO19.11733).
P53705	1341	1341	H -> HHH (in strain: ATCC 10261).
P53705	1360	1360	S -> L (in allele: CaO19.11733 and in strain: ATCC 10261).
P53705	1463	1463	L -> S (in allele: CaO19.11733 and in strain: ATCC 10261).
P53705	1510	1510	S -> L (in allele: CaO19.11733).
P53705	1707	1707	Q -> QQQ (in strain: ATCC 10261).
P53705	1707	1707	Missing (in allele: CaO19.1173).
Q9UBR1	85	85	A -> E (in beta-ureidopropionase deficiency; complete loss of activity; dbSNP:rs34035085).
Q9UBR1	340	340	A -> D (in dbSNP:rs34110964).
Q9Y7W4	68	68	S -> L (in allele CaO19.3523/3524).
Q9Y7W4	101	101	K -> Q (in allele CaO19.3523/3524).
Q9Y7W4	189	189	Q -> H (in allele CaO19.3523/3524).
Q9Y7W4	412	412	Missing (in allele CaO19.3523/3524).
Q9Y7W4	463	463	S -> L (in allele CaO19.3523/3524).
Q9Y7W4	505	505	S -> L (in allele CaO19.3523/3524).
Q9Y7W4	516	516	V -> I (in allele CaO19.3523/3524).
Q9Y7W4	529	529	S -> L (in allele CaO19.3523/3524).
Q9Y7W4	578	578	R -> G (in allele CaO19.3523/3524).
Q9Y7W4	649	651	SLS -> LLL (in allele CaO19.3523/3524).
Q8N1D0	133	133	R -> G (in dbSNP:rs441071).
P10845	27	27	V -> A.
P26730	54	54	Y -> F.
P26731	11	11	L -> F.
P26741	17	17	M -> I (in strain: Showa).
P26741	49	49	G -> S (in strain: Showa).
P26741	62	62	Y -> H (in strain: Showa).
P26741	65	65	S -> N (in strain: Showa).
P26736	23	23	G -> R (in strain: Kinshu).
P19321	15	16	ND -> PV (in strain: D-SA).
P19321	17	18	ND -> LQ (in strain: D-1873).
P19321	452	452	K -> Q (in strain: D-SA).
P19321	457	457	R -> F (in strain: D-1873).
P19321	457	457	R -> T (in strain: D-SA).
P19321	462	462	A -> D (in strain: D-1873).
P19321	489	489	K -> N (in strain: CB16).
P19321	644	644	N -> K (in strain: CB16).
P19321	1122	1122	Q -> R (in strain: CB16).
P91896	71	71	T -> A (in strain: Showa).
O95971	91	91	I -> V (in dbSNP:rs2231373).
Q13895	103	103	E -> K (in dbSNP:rs2296916).
Q13895	426	426	P -> S (in dbSNP:rs3828855).
Q9Y6E2	44	44	D -> A (in dbSNP:rs35233079).
Q68D86	153	153	K -> N (in dbSNP:rs572020).
Q68D86	298	298	K -> R (in dbSNP:rs2187094).
Q68D86	346	346	C -> F (in dbSNP:rs745894).
Q68D86	370	370	E -> G (in dbSNP:rs34102373).
Q68D86	425	425	N -> K (in dbSNP:rs17080065).
Q68D86	429	429	A -> P (in dbSNP:rs9963788).
Q9NWR8	63	63	I -> N (in dbSNP:rs4698744).
Q9NWR8	253	253	Y -> F (in dbSNP:rs13846).
Q9NWR8	255	255	I -> V (in dbSNP:rs1053680).
P15150	30	30	A -> V (in 11-beta-3).
P15150	60	60	S -> G (in 11-beta-3).
P15150	106	106	H -> R (in 11-beta-3).
P15538	10	10	C -> Y (in dbSNP:rs6405).
P15538	42	42	P -> S (in AH4; non-classic).
P15538	43	43	R -> Q (in dbSNP:rs4534).
P15538	63	63	D -> H (in dbSNP:rs5282).
P15538	133	133	N -> H (in AH4; non-classic).
P15538	160	160	M -> I (in dbSNP:rs5287).
P15538	173	173	K -> R (in dbSNP:rs4539).
P15538	248	248	T -> I (in dbSNP:rs34620645).
P15538	257	257	F -> L (in dbSNP:rs5288).
P15538	281	281	S -> N (in dbSNP:rs5291).
P15538	293	293	L -> V (in dbSNP:rs5292).
P15538	318	318	T -> M (in AH4).
P15538	319	319	T -> M (in AH4; non-classic).
P15538	348	348	A -> T (in dbSNP:rs6407).
P15538	374	374	R -> Q (in AH4).
P15538	386	386	A -> V (in dbSNP:rs4541).
P15538	404	404	R -> H (in dbSNP:rs4998896).
P15538	439	439	Y -> H (in dbSNP:rs5294).
P15538	448	448	R -> H (in AH4; dbSNP:rs28934586).
P15538	494	494	F -> C.
P15393	127	127	R -> C (in strain: Dahl salt-resistant).
P15393	351	351	V -> A (in strain: Dahl salt-resistant).
P15393	381	381	V -> L (in strain: Dahl salt-resistant).
P15393	384	384	I -> L (in strain: Dahl salt-resistant).
P15393	443	443	V -> M (in strain: Dahl salt-resistant).
P19099	29	29	A -> T (in dbSNP:rs6438).
P19099	30	30	R -> Q (in dbSNP:rs6441).
P19099	140	140	N -> NRL (in CMO-1 deficiency; the enzyme is inactive).
P19099	173	173	K -> R (in dbSNP:rs4539).
P19099	181	181	R -> W (in CMO-2 deficiency; reduces 18- hydroxylase and abolishes 18-oxidase activities; leaves 11 beta-hydroxylase activity intact; dbSNP:rs28931609).
P19099	185	185	T -> I (in CMO-2 deficiency).
P19099	198	198	E -> D (in CMO-2 deficiency).
P19099	222	222	N -> T (in dbSNP:rs5308).
P19099	248	248	I -> T (in dbSNP:rs4547).
P19099	281	281	N -> S (in dbSNP:rs4537).
P19099	339	339	I -> T (in dbSNP:rs4544).
P19099	383	383	E -> V (in dbSNP:rs5312).
P19099	386	386	V -> A (in CMO-2 deficiency; small but consistent reduction in the production of 18-hydroxycorticosterone; dbSNP:rs4541).
P19099	403	403	V -> E (in dbSNP:rs5315).
P19099	435	435	G -> S (in dbSNP:rs4545).
P19099	461	461	L -> P (in CMO-1 deficiency; abolishes the 18-hydroxylase activity required for conversion of 11-deoxycorticosterone to aldosterone).
P19099	487	487	F -> V (in dbSNP:rs5317).
P19099	498	498	T -> A (in CMO-2 deficiency).
P30099	84	84	E -> G.
P30099	146	146	E -> D.
P30099	2