P30443	33	33	F -> S (in allele A*0102).
P30443	41	41	R -> S (in allele A*0102).
P30443	80	80	G -> R (in allele A*0107).
P30443	91	91	M -> V (in allele A*0107).
P30443	100	100	A -> E (in allele A*0107).
P30443	114	114	D -> A (in allele A*0107).
P30443	121	121	I -> M (in allele A*0103).
P30443	180	180	R -> L (in allele A*0106).
P30443	182	182	V -> A (in allele A*0106).
Q9TQH5	33	33	F -> Y (in allele A*0205, allele A*0206, allele A*0208, allele A*0210 and allele A*0221).
Q9TQH5	54	54	D -> N (in allele A*0221).
Q9TQH5	65	65	A -> G (in allele A*0231).
Q9TQH5	67	67	Q -> R (in allele A*0202, allele A*0205 and allele A*0208).
Q9TQH5	90	90	K -> N (in allele A*0208 and allele A*0220).
Q9TQH5	94	94	H -> Q (in allele A*0234 and allele A*0235).
Q9TQH5	97	97	T -> I (in allele A*0211).
Q9TQH5	98	98	H -> D (in allele A*0211 and allele A*0235).
Q9TQH5	119	119	V -> L (in allele A*0202, allele A*0205, allele A*0208 and allele A*0217).
Q9TQH5	121	121	R -> M (in allele A*0204 and allele A*0217).
Q9TQH5	123	123	Y -> C (in allele A*0207 and allele A*0218).
Q9TQH5	123	123	Y -> F (in allele A*0210 and allele A*0217).
Q9TQH5	131	131	W -> G (in allele A*0210).
Q9TQH5	162	162	M -> K (in allele A*0218).
Q9TQH5	173	173	A -> T (in allele A*0203).
Q9TQH5	176	176	V -> E (in allele A*0203 and allele A*0213).
Q9TQH5	180	180	L -> Q (in allele A*0212, allele A*0213 and allele A*0237).
Q9TQH5	180	180	L -> W (in allele A*0202, allele A*0203, allele A*0205 and allele A*0208).
Q9TQH5	187	187	T -> E (in allele A*0216; requires 2 nucleotide substitutions).
Q9TQH5	190	190	E -> D (in allele A*0236 and allele A*0237).
Q9TQH5	191	191	W -> G (in allele A*0236 and allele A*0237).
Q9TQH5	260	260	A -> E (in allele A*0209).
Q9MYG4	176	176	E -> V (in allele A*0302).
Q9MYG4	180	180	L -> Q (in allele A*0302).
Q9MYG4	185	185	D -> E (in allele A*0305).
Q9MYG4	186	186	G -> A (in allele A*03011).
Q9MYG4	199	199	G -> R (in allele A*0304).
Q9TQP6	43	43	E -> K (in allele A*1102).
Q9TQP6	133	133	F -> L (in allele A*1107).
Q9TQP6	168	168	K -> E (in allele A*1105).
Q9TQP6	175	175	H -> R (in allele A*1103).
Q9TQP6	176	176	A -> E (in allele A*1103).
Q9TQP6	187	187	R -> T (in allele A*1104).
Q9TQP6	345	345	T -> S (in allele A*1105).
Q06402	136	136	M -> I.
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).
P30447	31	31	Y -> C (in allele A*2305).
P30447	151	151	K -> N (in allele A*2303).
P30447	180	180	L -> W (in allele A*2302).
P30447	190	191	DG -> EW (in allele A*2304).
P05534	5	5	A -> G (in allele A*2401).
P05534	27	27	H -> Q (in allele A*2408).
P05534	86	86	E -> G (in allele A*2408).
P05534	89	89	G -> R (in allele A*2408 and allele A*2429).
P05534	119	119	L -> V (in allele A*2414).
P05534	121	121	M -> R (in allele A*2414).
P05534	123	123	F -> Y (in allele A*2414).
P05534	131	131	G -> W (in allele A*2414).
P05534	180	180	Q -> L (in allele A*2413).
P05534	180	180	Q -> W (in allele A*2406; requires 2 nucleotide substitutions).
P05534	187	187	T -> R (in allele A*2410).
P05534	190	191	DG -> EW (in allele A*2403 and allele A*2410).
P05534	206	206	T -> A (in allele A*2401).
P18462	33	33	Y -> F (in allele A*2503).
P18462	94	94	H -> Q (in allele A*2502).
Q9BD19	60	60	F -> L (in allele A*2615).
Q9BD19	86	87	RN -> GE (in allele A*2607).
Q9BD19	90	90	N -> K (in allele A*2607).
Q9BD19	98	101	DRAN -> HRVD (in allele A*2603).
Q9BD19	100	100	A -> E (in allele A*2605).
Q9BD19	140	140	D -> N (in allele A*2602).
Q9BD19	176	176	E -> V (in allele A*2612).
Q9BD19	180	180	W -> Q (in allele A*2608; requires 2 nucleotide substitutions).
Q9BD19	187	187	R -> L (in allele A*2604).
Q9BD19	306	306	I -> V (in dbSNP:rs1136949).
P30512	90	90	N -> H (in allele A*2904).
P30512	126	126	H -> D (in allele A*2902, allele A*2903 and allele A*2904).
P30512	190	191	EW -> DG (in allele A*2903).
P16188	21	21	H -> Q (in allele A*3002, allele A*3004 and allele A*3008).
P16188	33	33	S -> Y (in allele A*3008).
P16188	55	55	T -> A (in allele A*3006).
P16188	80	80	R -> G (in allele A*3003).
P16188	86	86	Q -> E (in allele A*3007).
P16188	89	90	RN -> GK (in allele A*3007).
P16188	94	94	Q -> H (in allele A*3002, allele A*3003, allele A*3004, allele A*3006 and allele A*3007).
P16188	100	101	VD -> EN (in allele A*3002, allele A*3003, allele A*3004, allele A*3006 and allele A*3007).
P16188	175	176	RW -> HV (in allele A*3004 and allele A*3006).
P16188	176	176	W -> R (in allele A*3002, allele A*3003 and allele A*3007).
P16188	180	180	L -> W (in allele A*3004 and allele A*3006).
Q9UQU7	90	90	N -> K (in allele A*3102).
Q9UQU7	114	114	A -> D (in allele A*3103).
Q9UQU7	121	121	M -> I (in allele A*3103 and allele A*3104).
Q9UQU7	138	138	Q -> R (in allele A*3103, allele A*3104 and allele A*3106).
Q9UQU7	190	191	EW -> DG (in allele A*3105).
P10314	89	90	RN -> GK (in allele A*3205).
P10314	101	101	S -> N (in allele A*3203).
P10314	121	121	M -> I (in allele A*3204).
P10314	129	129	P -> S (in allele A*3204).
P10314	133	133	L -> F (in allele A*3204).
P10314	138	138	Q -> R (in allele A*3204).
P10314	168	168	Q -> K (in allele A*3204).
P10314	175	175	R -> H (in allele A*3202, allele A*3204 and allele A*3206).
P10314	176	176	V -> E (in allele A*3204).
P10314	180	180	L -> Q (in allele A*3202).
P10314	185	185	E -> D (in allele A*3204).
P16190	41	41	R -> S (in allele A*3302).
P16190	195	195	H -> Y (in allele A*3302 and allele A*3303).
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*3402).
P30453	90	90	K -> N (in allele A*3402).
P30453	121	121	R -> I (in allele A*3402).
P30453	129	129	P -> S (in allele A*3402).
P30453	138	138	Q -> R (in allele A*3402).
P30453	180	180	W -> L (in allele A*3402).
P30453	312	312	L -> I (in allele A*3402).
P30455	182	182	V -> A (in allele A*3602).
P30455	185	185	E -> D (in allele A*3602).
P30457	28	28	S -> W (in allele A*6602).
P30457	114	114	D -> A (in allele A*6602).
P30457	187	187	R -> E (in allele A*6602; requires 2 nucleotide substitutions).
P10315	36	36	V -> M (in allele A*6802).
P10315	86	87	RN -> EE (in allele A*6810).
P10315	94	94	Q -> H (in allele A*6803, allele A*6804 and allele A*6805).
P10315	97	97	T -> I (in allele A*6804).
P10315	98	98	D -> H (in allele A*6805).
P10315	121	121	M -> R (in allele A*6802).
P10315	129	129	S -> P (in allele A*6802).
P10315	138	138	R -> E (in allele A*6806; requires 2 nucleotide substitutions).
P10315	138	138	R -> H (in allele A*6802).
P10315	140	140	D -> H (in allele A*6806 and allele A*6807).
P10315	140	140	D -> V (in allele A*6817).
P10315	140	140	D -> Y (in allele A*6802).
P10315	175	175	H -> L (in allele A*6816).
P10315	180	180	W -> L (in allele A*6808).
P10315	180	180	W -> Q (in allele A*6809; requires 2 nucleotide substitutions).
P30459	23	23	R -> W (in allele A*7402).
P30459	86	86	Q -> G (in allele A*7404; requires 2 nucleotide substitutions).
P30459	90	90	N -> K (in allele A*7404).
P30459	97	97	T -> A (in allele A*7405).
P30459	103	103	G -> A (in allele A*7403).
P01889	93	95	AQA -> TNT (in allele B*0703).
P01889	118	119	TL -> II (in allele B*0718).
P01889	121	121	S -> R (in allele B*0718).
P01889	138	138	D -> N (in allele B*0705 and allele B*0706).
P01889	180	180	R -> D (in allele B*0704; requires 2 nucleotide substitutions).
P01889	187	187	E -> L (in allele B*0724; requires 2 nucleotide substitutions).
P01889	306	306	V -> I (in allele B*0705).
Q9MY78	87	87	N -> D (in allele B*0810).
Q9MY78	91	91	F -> S (in allele B*0804).
Q9MY78	101	101	S -> N (in allele B*0806).
Q9MY78	119	119	L -> W (in allele B*0809).
Q9MY78	121	121	S -> R (in allele B*0812).
Q9MY78	121	121	S -> T (in allele B*0809).
Q9MY78	137	138	HN -> YH (in allele B*0814).
Q9MY78	138	138	N -> D (in allele B*0807).
Q9MY78	140	140	Y -> D (in allele B*0814).
Q9MY78	176	176	V -> E (in allele B*0806).
Q9MY78	180	180	D -> L (in allele B*0813; requires 2 nucleotide substitutions).
Q9MY78	180	180	D -> R (in allele B*0806; requires 2 nucleotide substitutions).
P30461	118	119	TW -> II (in allele B*1301).
P30461	121	121	T -> R (in allele B*1301).
P30461	138	138	N -> D (in allele B*1304).
P30461	140	140	L -> S (in allele B*1304).
P30461	169	169	L -> R (in allele B*1303 and allele B*1304; requires 2 nucleotide substitutions).
P30461	183	183	Y -> C (in allele B*1308).
P30461	187	187	E -> L (in allele B*1303 and allele B*1304).
P30462	35	35	S -> A (in allele B*1402 and allele B*1403).
P30462	180	180	L -> R (in allele B*1403).
Q95343	48	48	A -> S (in allele B*1503).
Q95343	69	70	MA -> EE (in allele B*1503).
Q95343	87	87	E -> N (in allele B*1502 and allele B*1511; requires 2 nucleotide substitutions).
Q95343	91	91	S -> C (in allele B*1566).
Q95343	91	91	S -> Y (in allele B*1511).
Q95343	118	119	TL -> II (in allele B*1502).
Q95343	119	119	L -> W (in allele B*1504).
Q95343	121	121	R -> T (in allele B*1504).
Q95343	137	137	H -> Y (in allele B*1502).
Q95343	180	180	W -> L (in allele B*1502 and allele B*1503).
Q95343	190	191	EW -> DG (in allele B*1519).
Q95343	274	274	P -> L (in allele B*1519).
Q9TP37	87	87	N -> E (in allele B*1812; requires 2 nucleotide substitutions).
Q9TP37	91	91	S -> F (in allele B*1807).
Q9TP37	98	98	Y -> D (in allele B*1803).
Q9TP37	121	121	R -> N (in allele B*1802; requires 2 nucleotide substitutions).
Q9TP37	180	180	L -> R (in allele B*1813).
Q9TP37	187	187	T -> E (in allele B*1810; requires 2 nucleotide substitutions).
Q9TP37	195	195	H -> Y (in allele B*1810 and allele B*1811).
Q29846	83	83	Y -> H (in allele B*2703).
Q29846	101	101	D -> N (in allele B*2702).
Q29846	101	101	D -> S (in allele B*2704, allele B*2706 and allele B*2708; requires 2 nucleotide substitutions).
Q29846	104	105	TL -> IA (in allele B*2702).
Q29846	104	104	T -> N (in allele B*2708).
Q29846	106	107	LR -> RG (in allele B*2708).
Q29846	121	121	N -> S (in allele B*2707).
Q29846	137	138	YH -> HN (in allele B*2707).
Q29846	138	138	H -> D (in allele B*2706).
Q29846	140	140	D -> H (in allele B*2709).
Q29846	140	140	D -> Y (in allele B*2706 and allele B*2707).
Q29846	155	155	S -> R (in allele B*2707).
Q29846	176	176	V -> E (in allele B*2704 and allele B*2706).
Q29846	235	235	A -> G (in allele B*2704 and allele B*2706).
P30474	40	40	G -> V (in allele B*3507).
P30474	48	48	A -> S (in allele B*3525).
P30474	69	69	T -> E (in allele B*3525; requires 2 nucleotide substitutions).
P30474	87	87	N -> E (in allele B*3528; requires 2 nucleotide substitutions).
P30474	91	91	F -> S (in allele B*3528).
P30474	98	98	Y -> D (in allele B*3529).
P30474	107	107	G -> D (in allele B*3536).
P30474	118	119	II -> TL (in allele B*3505 and allele B*3532).
P30474	121	121	R -> S (in allele B*3505 and allele B*3530).
P30474	127	127	L -> V (in allele B*3532).
P30474	133	133	L -> F (in allele B*3502).
P30474	138	138	D -> N (in allele B*3502, allele B*3504 and allele B*3506).
P30474	140	140	S -> F (in allele B*3506 and allele B*3536).
P30474	140	140	S -> Y (in allele B*3502, allele B*3503 and allele B*3504).
P30474	180	180	L -> R (in allele B*3508).
P18463	104	104	T -> N (in allele B*3705).
P18463	106	107	LR -> RG (in allele B*3705).
P18463	195	195	Y -> H (in allele B*3704).
Q9BCM8	35	35	S -> A (in allele B*3805).
Q9BCM8	69	69	E -> T (in allele B*3806 and allele B*3807; requires 2 nucleotide substitutions).
Q9BCM8	82	82	E -> G (in allele B*3807).
Q9BCM8	87	87	N -> E (in allele B*3803 and allele B*3804; requires 2 nucleotide substitutions).
Q9BCM8	91	91	C -> F (in allele B*3806 and allele B*3807).
Q9BCM8	91	91	C -> S (in allele B*3803).
Q9BCM8	98	98	Y -> D (in allele B*3803).
Q9BCM8	101	101	N -> S (in allele B*3803).
Q9BCM8	104	104	I -> T (in allele B*3802, allele B*3803, allele B*3804 and allele B*3808).
Q9BCM8	187	187	T -> M (in allele B*3808).
Q29847	33	33	Y -> D (in allele B*3912).
Q29847	35	35	S -> A (in allele B*3904 and allele B*3912).
Q29847	36	36	V -> M (in allele B*3904).
Q29847	87	87	N -> E (in allele B*3902, allele B*3908 and allele B*3923; requires 2 nucleotide substitutions).
Q29847	91	91	C -> S (in allele B*3902, allele B*3908 and allele B*3923).
Q29847	91	91	C -> Y (in allele B*3910).
Q29847	98	98	D -> Y (in allele B*3905, allele B*3907 and allele B*3908).
Q29847	119	119	L -> W (in allele B*3906).
Q29847	121	121	R -> S (in allele B*3903 and allele B*3924).
Q29847	121	121	R -> T (in allele B*3906).
Q29847	122	122	M -> T (in allele B*3924).
Q29847	123	123	Y -> S (in allele B*3909).
Q29847	138	138	N -> D (in allele B*3907).
Q29847	140	140	F -> S (in allele B*3907).
Q29847	168	168	Q -> R (in allele B*3923).
Q29847	180	180	L -> R (in allele B*3908).
Q29855	9	9	L -> V (in allele B*4001).
Q29855	14	15	WG -> SA (in allele B*4001).
Q29855	17	17	V -> L (in allele B*4001).
Q29855	35	36	SV -> AM (in allele B*4001 and allele B*4016).
Q29855	87	87	E -> N (in allele B*4008; requires 2 nucleotide substitutions).
Q29855	91	91	S -> F (in allele B*4008).
Q29855	118	119	TL -> II (in allele B*4003).
Q29855	119	119	L -> W (in allele B*4006).
Q29855	121	121	S -> R (in allele B*4001 and allele B*4003).
Q29855	121	121	S -> T (in allele B*4006).
Q29855	127	127	V -> L (in allele B*4003).
Q29855	137	137	H -> Y (in allele B*4009).
Q29855	138	138	N -> D (in allele B*4004 and allele B*4009).
Q29855	140	140	Y -> N (in allele B*4027).
Q29855	140	140	Y -> S (in allele B*4004).
Q29855	167	167	T -> S (in allele B*4001).
Q29855	171	171	W -> L (in allele B*4001).
Q29855	176	176	V -> E (in allele B*4005 and allele B*4016).
Q29855	180	180	L -> R (in allele B*4016).
Q29855	187	187	E -> L (in allele B*4005; requires 2 nucleotide substitutions).
Q29855	201	202	ET -> DK (in allele B*4001 and allele B*4016).
Q29855	204	204	Q -> E (in allele B*4001 and allele B*4016).
P30479	104	104	N -> K (in allele B*4105).
P30479	119	119	W -> L (in allele B*4102, allele B*4103 and allele B*4104).
P30479	121	121	R -> S (in allele B*4102 and allele B*4104).
P30479	127	127	V -> L (in allele B*4104).
P30479	138	138	N -> D (in allele B*4104).
P30480	33	33	Y -> H (in allele B*4202).
Q9MYC3	65	65	T -> A (in allele B*4407 and allele B*4408).
Q9MYC3	69	70	KE -> MA (in allele B*4408).
Q9MYC3	85	85	D -> E (in allele B*4413).
Q9MYC3	87	87	E -> N (in allele B*4412; requires 2 nucleotide substitutions).
Q9MYC3	101	101	N -> S (in allele B*4409).
Q9MYC3	104	107	TALR -> NLRG (in allele B*4409).
Q9MYC3	140	140	D -> Y (in allele B*4405).
Q9MYC3	180	180	D -> L (in allele B*4403, allele B*4407 and allele B*4413; requires 2 nucleotide substitutions).
Q9MYC3	180	180	D -> R (in allele B*4404; requires 2 nucleotide substitutions).
Q9MYC3	187	187	L -> T (in allele B*4404; requires 2 nucleotide substitutions).
P30483	139	139	Q -> R (in allele B*4503).
P30483	191	191	S -> W (in allele B*4504).
P30484	98	98	D -> G (in allele B*4602).
P30485	101	101	D -> S (in allele B*4702 and allele B*4703; requires 2 nucleotide substitutions).
P30485	104	104	T -> N (in allele B*4702 and allele B*4703).
P30485	106	107	LR -> RG (in allele B*4702).
P30486	121	121	S -> R (in allele B*4803).
P30487	48	48	T -> A (in allele B*04903).
P30487	56	56	L -> Q (in allele B*04903).
P30487	65	65	T -> A (in allele B*04903).
P30487	69	69	K -> T (in allele B*04903).
P30487	104	104	I -> T (in allele B*04902).
P30488	127	127	L -> V (in allele B*5004).
P30488	191	191	W -> S (in allele B*5002).
P18464	118	121	TWQT -> IIQR (in allele B*5104).
P18464	155	155	S -> R (in allele B*5124).
P18464	176	176	E -> V (in allele B*5108).
P18464	180	180	L -> D (in allele B*5108; requires 2 nucleotide substitutions).
P18464	191	191	W -> G (in allele B*5103).
P18464	195	195	H -> Y (in allele B*5102).
P30490	69	70	TE -> MA (in allele B*5202).
P30490	176	176	E -> V (in allele B*5203).
P30490	195	195	H -> Y (in allele B*5203).
Q9TQH8	101	101	N -> D (in allele B*5303).
Q9TQH8	101	101	N -> S (in allele B*5305).
Q9TQH8	104	105	IA -> TL (in allele B*5303).
Q9TQH8	118	118	I -> T (in allele B*5307).
Q9TQH8	123	123	Y -> S (in allele B*5307).
Q9TQH8	127	127	L -> V (in allele B*5307).
Q9TQH8	137	138	HD -> YN (in allele B*5307).
Q9TQH8	140	140	S -> F (in allele B*5304 and allele B*5307).
Q9TQH8	176	176	V -> E (in allele B*5306).
Q9TQH8	195	195	Y -> H (in allele B*5302 and allele B*5306).
P30492	33	33	Y -> H (in allele B*5402).
P30492	35	36	AM -> SV (in allele B*5402).
P30493	82	82	E -> A (in allele B*5505).
P30493	101	101	S -> N (in allele B*5512).
P30493	119	119	W -> L (in allele B*5504 and allele B*5508; requires 2 nucleotide substitutions).
P30493	121	121	T -> R (in allele B*5508).
P30493	121	121	T -> S (in allele B*5504).
P30493	127	127	L -> V (in allele B*5504 and allele B*5508).
P30493	140	140	L -> Y (in allele B*5504 and allele B*5508).
P30493	155	155	S -> R (in allele B*5504 and allele B*5508).
P30493	176	176	E -> V (in allele B*5502, allele B*5504, allele B*5508 and allele B*5512).
P30493	180	180	L -> R (in allele B*5509).
P30493	187	187	T -> E (in allele B*5509; requires 2 nucleotide substitutions).
P30493	187	187	T -> L (in allele B*5508; requires 2 nucleotide substitutions).
P30495	69	69	E -> T (in allele B*5606; requires 2 nucleotide substitutions).
P30495	101	101	S -> N (in allele B*5607).
P30495	104	107	NLRG -> TALR (in allele B*5607).
P30495	119	119	W -> L (in allele B*5602, allele B*5603 and allele B*5604).
P30495	121	121	T -> R (in allele B*5602, allele B*5603 and allele B*5604).
P30495	127	127	L -> V (in allele B*5603, allele B*5604, allele B*5605 and allele B*5606).
P30495	138	138	N -> D (in allele B*5603).
P30495	140	140	L -> S (in allele B*5603).
P30495	140	140	L -> Y (in allele B*5605 and allele B*5606; requires 2 nucleotide substitutions).
P30495	176	176	V -> E (in allele B*5603, allele B*5605 and allele B*5606).
P30495	180	180	L -> W (in allele B*5603).
P30495	195	195	Y -> H (in allele B*5605 and allele B*5606).
P18465	121	121	V -> R (in allele B*5705; requires 2 nucleotide substitutions).
P18465	127	127	V -> L (in allele B*5705).
P18465	137	137	H -> Y (in allele B*5705).
P18465	138	138	D -> N (in allele B*5702, allele B*5703 and allele B*5705).
P18465	140	140	S -> Y (in allele B*5702, allele B*5703 and allele B*5705).
P18465	180	180	L -> R (in allele B*5702 and allele B*5705).
P10319	86	86	G -> E (in allele B*5804).
P10319	118	119	II -> TL (in allele B*5802).
P10319	121	121	R -> W (in allele B*5802).
P10319	171	171	W -> L (in allele B*5805).
P10319	176	176	V -> A (in allele B*5805).
P10319	187	187	L -> T (in allele B*5805; requires 2 nucleotide substitutions).
Q29836	69	69	E -> G (in allele B*6702).
Q29836	76	76	I -> V (in allele B*6702).
Q29836	87	87	N -> E (in allele B*6702; requires 2 nucleotide substitutions).
Q29836	90	90	I -> K (in allele B*6702).
Q29836	93	93	A -> R (in allele B*6702; requires 2 nucleotide substitutions).
Q29836	97	97	T -> A (in allele B*6702).
Q29836	100	100	E -> V (in allele B*6702).
P30498	91	91	F -> C (in allele B*7803).
P30498	98	98	D -> Y (in allele B*7802).
Q29718	186	186	D -> G (in allele B*8202).
P30499	5	5	E -> A (in allele Cw*0102, allele CW*0103 and allele CW*0104).
P30499	92	92	N -> K (in allele Cw*0102, allele CW*0103 and allele CW*0104).
P30499	138	138	D -> N (in allele CW*0103).
P30499	140	140	Y -> F (in allele CW*0103).
P30499	140	140	Y -> S (in allele CW*0104).
P30499	179	179	E -> Q (in allele Cw*0102, allele Cw*0103 and allele CW*0104).
P30499	180	180	R -> W (in allele Cw*0104).
P30499	202	202	S -> T (in allele Cw*0102, allele CW*0103 and allele CW*0104).
P30499	243	243	W -> R (in allele CW*0104).
P30499	272	272	M -> V (in allele CW*0104).
P30499	328	328	V -> M (in allele CW*0104).
P30499	364	364	S -> C (in allele Cw*0102, allele CW*0103 and allele CW*0104).
P30501	5	5	E -> A (in allele Cw*0202).
P30501	10	10	I -> L (in allele Cw*0202).
P30501	73	74	GR -> AP (in allele Cw*0202).
P30501	92	92	N -> K (in allele Cw*0202).
P30501	179	179	E -> Q (in allele Cw*0202).
P30501	202	202	K -> T (in allele Cw*0202).
P30501	364	364	S -> C (in allele Cw*0202).
Q29993	90	90	K -> N (in allele Cw*0308).
Q29993	101	101	S -> N (in allele Cw*0307).
Q29993	104	104	N -> K (in allele Cw*0307).
Q29993	115	115	G -> R (in allele Cw*0303 and allele Cw*0313).
Q29993	118	118	I -> T (in allele Cw*0305 and allele Cw*0313).
Q29993	119	119	I -> L (in allele Cw*0302, allele Cw*0305 and allele Cw*0313).
Q29993	121	121	R -> S (in allele Cw*0305).
Q29993	127	127	V -> L (in allele Cw*0309).
Q29993	138	138	D -> V (in allele Cw*0306).
Q29993	140	140	Y -> S (in allele Cw*0302).
P30504	33	33	S -> Y (in allele Cw*0403 and allele Cw*0406).
P30504	35	35	S -> A (in allele Cw*0403 and allele Cw*0406).
P30504	38	38	W -> R (in allele Cw*0403 and allele Cw*0406).
P30504	40	40	G -> S (in allele Cw*0403 and allele Cw*0406).
P30504	45	45	R -> H (in allele Cw*0403 and allele Cw*0406).
P30504	52	52	V -> L (in allele Cw*0405).
P30504	73	73	E -> A (in allele Cw*0403 and allele Cw*0406).
P30504	180	180	R -> L (in allele Cw*0404 and allele Cw*0406).
P30504	327	327	M -> V (in allele Cw*0403 and allele Cw*0406).
Q9TNN7	138	138	N -> D (in allele Cw*0504).
Q9TNN7	140	140	F -> S (in allele Cw*0504).
Q9TNN7	201	201	K -> E (in allele Cw*0502).
Q9TNN7	207	208	EH -> DP (in allele Cw*0503).
Q9TNN7	218	218	V -> I (in allele Cw*0503).
Q9TNN7	223	223	A -> V (in allele Cw*0503).
Q29963	33	33	D -> Y (in allele Cw*0603).
Q29963	180	180	W -> L (in allele Cw*0604).
Q95603	90	90	K -> N (in allele Cw*0701).
Q95603	101	101	S -> N (in allele Cw*0709).
Q95603	104	104	N -> K (in allele Cw*0709).
Q95603	119	119	L -> F (in allele Cw*0704 and allele Cw*0711).
Q95603	123	123	S -> Y (in allele Cw*0701).
Q95603	140	140	S -> F (in allele Cw*0704 and allele Cw*0711).
Q95603	171	171	L -> W (in allele Cw*0703).
Q95603	180	180	L -> D (in allele Cw*0704 and allele Cw*0711; requires 2 nucleotide substitutions).
Q95603	187	187	T -> L (in allele Cw*0703; requires 2 nucleotide substitutions).
Q95603	201	201	E -> K (in allele Cw*0704 and allele Cw0711).
Q95603	331	331	M -> K (in allele Cw*0706).
Q95603	348	348	A -> V (in allele Cw*0706).
Q95603	363	363	T -> A (in allele Cw*0711).
P30505	162	162	T -> K (in allele Cw*0802).
P30505	176	176	T -> E (in allele Cw*0802; requires 2 nucleotide substitutions).
P30505	180	180	L -> R (in allele Cw*0802).
P30505	199	199	G -> R (in allele CW*0803).
Q9UM32	90	90	K -> N (in allele Cw*1208).
Q9UM32	97	97	A -> T (in allele Cw*1205 and allele Cw*1209).
Q9UM32	101	101	S -> G (in allele Cw*1207).
Q9UM32	101	101	S -> N (in allele Cw*1204, allele Cw*1205 and allele Cw*1209).
Q9UM32	104	104	N -> K (in allele Cw*1204, allele Cw*1205 and allele Cw*1209).
Q9UM32	121	121	R -> W (in allele Cw*1203, allele Cw*1204, allele Cw*1205, allele Cw*1206, allele Cw*1207 and allele Cw*1209).
Q9UM32	144	144	G -> V (in allele Cw*1206).
Q9UM32	180	180	W -> R (in allele Cw*1209).
P30510	45	45	R -> H (in allele Cw*1403).
P30510	97	97	T -> A (in allele Cw*1404).
P30510	101	101	S -> N (in allele Cw*1403).
Q07000	40	40	G -> S (in allele Cw*1511).
Q07000	45	45	H -> R (in allele Cw*1510).
Q07000	90	90	N -> K (in allele Cw*1511).
Q07000	97	97	T -> A (in allele Cw*1503).
Q07000	137	137	H -> Y (in allele Cw*1504).
Q07000	140	140	L -> F (in allele Cw*1505).
Q07000	140	140	L -> S (in allele Cw*1504).
Q29960	101	101	S -> N (in allele Cw*1602).
Q29960	104	104	N -> K (in allele Cw*1602).
Q29960	153	153	H -> D (in allele Cw*1602 and allele Cw*1604).
Q29960	157	157	C -> W (in allele Cw*1602 and allele Cw*1604).
Q29960	180	180	Q -> W (in allele Cw*1604; requires 2 nucleotide substitutions).
Q95604	7	8	QA -> RT (in allele Cw*1702).
Q95604	10	10	L -> I (in allele Cw*1702).
Q95604	24	24	A -> T (in allele Cw*1703).
Q29865	319	319	V -> A (in allele Cw*1802).
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.
Q7M2H4	13	13	T -> A (in dbSNP:rs34817315).
Q7M2H4	29	29	A -> S (in dbSNP:rs35611486).
Q7M2H4	33	33	R -> K (in dbSNP:rs34716432).
Q7M2H4	33	33	R -> Q (in dbSNP:rs34716432).
Q7M2H4	39	39	Q -> E (in allele DRB1*0107).
Q7M2H4	66	66	S -> Y (in dbSNP:rs16822820).
Q7M2H4	74	74	G -> R (in allele DRB1*0105).
Q7M2H4	76	76	Y -> F (in dbSNP:rs34897595).
Q7M2H4	89	89	Y -> S (in dbSNP:rs36074728).
Q7M2H4	96	96	L -> I (in allele DRB1*0103).
Q7M2H4	99	99	Q -> D (in allele DRB1*0103; requires 2 nucleotide substitutions).
Q7M2H4	99	99	Q -> E (in dbSNP:rs34202790).
Q7M2H4	99	99	Q -> H (in dbSNP:rs34043978).
Q7M2H4	100	100	R -> A (in allele DRB1*0106; requires 2 nucleotide substitutions).
Q7M2H4	100	100	R -> E (in allele DRB1*0103; requires 2 nucleotide substitutions).
Q7M2H4	102	102	A -> G (in dbSNP:rs35909711).
Q7M2H4	103	103	A -> E (in dbSNP:rs16822805).
Q7M2H4	106	106	T -> N (in allele DRB1*0104; dbSNP:rs16822752).
Q7M2H4	107	107	Y -> H (in dbSNP:rs16822512).
Q7M2H4	114	114	V -> A (in allele DRB1*0102; dbSNP:rs34778461).
Q7M2H4	115	115	G -> V (in allele DRB1*0102, allele DRB1*0104 and allele DRB1*0106; dbSNP:rs34610432).
Q7M2H4	164	164	G -> D (in dbSNP:rs1059633).
Q7M2H4	169	169	A -> T (in dbSNP:rs2308768).
Q7M2H4	171	171	V -> M (in dbSNP:rs36218071).
Q7M2H4	178	178	Q -> H (in dbSNP:rs35379136).
Q7M2H4	195	195	R -> Q (in dbSNP:rs3205588).
Q7M2H4	210	210	T -> I (in dbSNP:rs17423930).
Q7M2H4	236	236	V -> M (in dbSNP:rs2230816).
Q7M2H4	253	253	Q -> E (in allele DRB1*0102).
Q9MY13	86	86	D -> S (in allele DRB1*0411; requires 2 nucleotide substitutions).
Q9MY13	96	96	L -> I (in allele DRB1*0402).
Q9MY13	99	99	Q -> D (in allele DRB1*0402; requires 2 nucleotide substitutions).
Q9MY13	100	100	K -> E (in allele DRB1*0402).
Q9MY13	100	100	K -> R (in allele DRB1*0403, allele DRB1*0404 and allele DRB1*0411).
Q9MY13	103	103	A -> E (in allele DRB1*0403 and allele DRB1*0411).
Q9MY13	115	115	G -> V (in allele DRB1*0402, allele DRB1*0403, allele DRB1*0404 and allele DRB1*0411).
P13761	58	58	R -> S (in allele DRB1*0703).
P13761	106	106	T -> N (in allele DRB1*0704).
P13761	107	107	V -> Y (in allele DRB1*0704; requires 2 nucleotide substitutions).
Q9BCP2	86	86	S -> D (in allele DRB1*0802 and allele DRB1*0804; requires 2 nucleotide substitutions).
Q9BCP2	96	96	F -> I (in allele DRB1*0803).
Q9BCP2	115	115	G -> V (in allele DRB1*0804).
P20039	100	100	R -> E (in allele DRB1*1103; requires 2 nucleotide substitutions).
P20039	115	115	G -> V (in allele DRB1*1103 and allele DRB1*1104).
Q5Y7B9	59	59	Y -> H (in allele DRB1*1503).
Q5Y7B9	96	96	I -> F (in allele DRB1*1504).
Q5Y7B9	115	115	V -> G (in allele DRB1*1502).
P79483	40	40	R -> C (in allele DRB3*0102).
P79483	102	102	G -> A (in dbSNP:rs35909711).
P79483	114	114	V -> A (in dbSNP:rs34778461).
P79483	236	236	V -> M (in dbSNP:rs2230816).
Q9MYH4	59	59	H -> S (in allele DRB3*0210; requires 2 nucleotide substitutions).
Q9MYH4	59	59	H -> Y (in allele DRB3*0205).
Q9MYH4	66	66	Y -> N (in allele DRB3*0206).
Q9MYH4	80	80	R -> T (in allele DRB3*0209 and allele DRB3*0210).
Q9MYH4	86	86	D -> S (in allele DRB3*0208; requires 2 nucleotide substitutions).
Q9MYH4	86	86	D -> V (in allele DRB3*0207 and allele DRB3*0209).
Q9MYH4	89	89	Y -> S (in allele DRB3*0209).
Q9MYH4	96	96	L -> I (in allele DRB3*0211).
Q9MYH4	115	115	G -> V (in allele DRB3*0201).
Q9MYH4	193	193	F -> V (in allele DRB3*0210 and allele DRB3*0211).
Q30154	28	28	L -> S.
Q30154	154	154	G -> A.
P28067	162	162	H -> Q (in allele DMA*0103 and allele DMA*0104).
P28067	163	163	D -> H (in allele DMA*0103 and allele DMA*0104).
P28067	166	166	V -> I (in allele DMA*0102 and allele DMA*0104).
P28067	181	181	G -> A (in allele DMA*0103).
P28067	210	210	R -> C (in allele DMA*0104).
P28067	210	210	R -> H (in allele DMA*0103).
P28068	45	45	S -> F (in allele DMB*0106).
P28068	162	162	A -> E (in allele DMB*0102 and allele DMB*0106).
P28068	162	162	A -> V (in allele DMB*0104 and allele DMB*0105).
P28068	197	197	I -> T (in allele DMB*0103, allele DMB*0104 and allele DMB*0106; dbSNP:rs1042337).
P13765	18	18	R -> Q (in allele DOB*0102).
P13765	234	234	L -> F (in allele DOB*0104).
P13765	244	244	V -> I (in allele DOB*0103).
P01903	16	16	V -> L (in dbSNP:rs16822586).
P01903	242	242	V -> L (in allele DRA*0102; dbSNP:rs7192).
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).
P04403	91	91	S -> E (in variant 1A).
P01089	74	74	P -> T.
P14060	79	79	I -> V (in dbSNP:rs6201).
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).
P26439	10	10	A -> V (in AH2; nonsalt-wasting form).
P26439	15	15	G -> D (in AH2; activity abolished).
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).
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).
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	250	250	T -> A (in dbSNP:rs9938550).
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).
P78314	420	420	G -> R (in CRBM).
P46952	37	37	V -> I (in dbSNP:rs3816183).
P46952	42	42	T -> S (in dbSNP:rs3816182).
P29372	22	22	K -> Q.
P29372	64	64	P -> L (in dbSNP:rs2308315).
P29372	71	71	Y -> H.
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).
P11171	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).
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	A -> G (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).
P47898	262	262	R -> C (in a colorectal cancer sample; somatic mutation).
P34969	92	92	T -> K.
P34969	279	279	P -> L.
Q969T7	201	201	V -> A (in dbSNP:rs1046403).
Q969T7	205	205	C -> S (in dbSNP:rs1046404).
Q9UC45	137	137	D -> V (in P5N deficiency; may alter protein structure).
Q9UC45	181	181	L -> P (in P5N deficiency; may alter protein structure and markedly decreases activity).
Q9UC45	229	229	N -> S (in P5N deficiency; markedly decreases activity).
Q9UC45	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:rs3812138).
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).
Q6ZN28	31	31	L -> V (in dbSNP:rs4721888).
Q6ZN28	50	50	P -> L (in dbSNP:rs17142503).
Q6ZN28	515	515	S -> L (in dbSNP:rs975263).
Q6ZN28	728	728	E -> A (in dbSNP:rs12671170).
Q6ZN28	804	804	R -> T (in dbSNP:rs3735615).
P36639	124	124	M -> V (in dbSNP:rs4866).
Q8IZ83	110	110	E -> K (in dbSNP:rs3745312).
Q8IZ83	227	227	V -> L (in dbSNP:rs1320303).
Q676U5	300	300	T -> A (associated with susceptibility to IBD10; dbSNP:rs2241880).
Q8NAA4	220	220	R -> W (in dbSNP:rs11235604).
P02763	38	38	Q -> R (in allele ORM1*S).
P02763	174	174	V -> M (in allele ORM1*F2; dbSNP:rs2636890).
P21350	38	38	S -> G.
P19652	38	38	R -> Q (in dbSNP:rs17650).
P21352	10	10	L -> V.
P21352	24	24	A -> V.
P21352	50	50	A -> R.
P21352	98	98	L -> V.
Q86U19	4	4	S -> L (in Z-Wrexham).
Q86U19	26	26	D -> A (in V-Munich).
Q86U19	58	58	A -> T (in M5-Karlsruhe).
Q86U19	63	63	R -> C (in I).
Q86U19	65	65	L -> P (in M-Procida).
Q86U19	69	69	S -> F (in M6-Bonn).
Q86U19	75	75	Missing (in M-Malton, M-Nichinan and M- Palermo; associated with very low serum levels of AAT).
Q86U19	77	77	S -> F (in S-Iiyama).
Q86U19	84	84	A -> T (in M6-Passau).
Q86U19	91	91	G -> E (in M-Mineral springs; causes reduced AAT secretion).
Q86U19	92	92	T -> I (in QO-Lisbon; deficient AAT with very low serum levels).
Q86U19	109	109	T -> M (in Z-Bristol; deficient AA; disrupts the N-glycosylation site N-107).
Q86U19	112	112	P -> T (in M5-Berlin).
Q86U19	116	116	I -> N (in QO-Ludwigshafen).
Q86U19	125	125	R -> H (in M2; associated with D-400; dbSNP:rs709932).
Q86U19	139	139	G -> S (in QO-Newport; dbSNP:rs11558261).
Q86U19	172	172	G -> R (in V and M-Nichinan).
Q86U19	172	172	G -> W (in M2-Obernburg).
Q86U19	180	180	Q -> E (in L-Frankfurt).
Q86U19	190	198	QGKIVDLVK -> GFQNAILVR (in Aberrant form).
Q86U19	228	228	E -> K (in X).
Q86U19	237	237	V -> A (in M1A and Z; associated with K- 366 in Z; dbSNP:rs6647).
Q86U19	247	247	R -> C (in F).
Q86U19	280	280	D -> V (in P-Duarte/P-Cardiff/P-Lowell; associated with H-415 in Y-Barcelona).
Q86U19	288	288	E -> V (in S and T; dbSNP:rs17580).
Q86U19	305	305	Missing (in Basque).
Q86U19	354	354	S -> F (in S-Munich).
Q86U19	360	360	A -> T (in W-Bethesda; dbSNP:rs1802959).
Q86U19	365	365	D -> N (in P-St.Albans/P-Donauwoerth).
Q86U19	366	366	E -> K (in Z/Z-Augsburg/Z-Tun; associated with A-237 in Z).
Q86U19	382	382	M -> R (in Pittsburgh; has antithrombin activity).
Q86U19	386	386	P -> H (in Sao Tome).
Q86U19	386	386	P -> T (in L-Offenbach).
Q86U19	387	387	E -> K (in Christchurch).
Q86U19	393	393	P -> L (in M-Heerlen).
Q86U19	400	400	E -> D (in M2 and M3; associated with H- 125 in M2; dbSNP:rs1303).
Q86U19	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.
Q6S5H4	30	30	H -> D (in dbSNP:rs4503752).
Q6S5H4	43	43	M -> V (in dbSNP:rs2605913).
Q6S5H4	64	64	C -> W (in dbSNP:rs2458860).
Q6S5H4	68	68	C -> R (in dbSNP:rs6599743).
Q6S5H4	77	77	T -> K (in dbSNP:rs4429251).
Q6S5H4	88	88	N -> D (in dbSNP:rs2458862).
Q6S5H4	286	286	Q -> E (in dbSNP:rs2445603).
Q6S5H4	511	511	K -> E (in dbSNP:rs1949282).
Q6S5H4	535	535	M -> K (in dbSNP:rs1828869).
Q6S5H4	568	568	A -> V (in dbSNP:rs1828868).
Q86YR6	113	113	S -> G (in dbSNP:rs6517869).
Q86YR6	135	135	V -> I (in dbSNP:rs6517870).
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	27	27	A -> V.
P08697	33	33	R -> W.
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.
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	V -> I (in dbSNP:rs669).
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).
Q16019	501	501	E -> K.
Q16019	665	665	E -> D (in AD; late onset).
Q16019	670	671	KM -> NL (in AD; familial).
Q16019	692	692	A -> G (in AD; Flemish type; increases the solubility of processed beta-amyloid peptides and increases the stability of peptide oligomers).
Q16019	693	693	E -> G (in AD; Arctic type).
Q16019	693	693	E -> K (in HCHWAD; Italian type).
Q16019	693	693	E -> Q (in HCHWAD; Dutch type).
Q16019	694	694	D -> N (in hereditary cerebroarterial amyloidosis Iowa type).
Q16019	705	705	L -> V (in HCHWAD; Italian type).
Q16019	713	713	A -> T (in AD; familial).
Q16019	713	713	A -> V (in one chronic schizophrenia patient; could be a polymorphism; dbSNP:rs1800557).
Q16019	714	714	T -> A (in AD; familial).
Q16019	714	714	T -> I (in AD; familial; increased beta- APP42/beta-APP40 ratio).
Q16019	715	715	V -> M (in AD; familial; decreased beta- APP40/total APP-beta).
Q16019	716	716	I -> V (in AD; familial).
Q16019	717	717	V -> F (in AD; familial).
Q16019	717	717	V -> G (in AD; familial).
Q16019	717	717	V -> I (in AD; familial).
Q16019	717	717	V -> L (in AD; familial).
Q16019	723	723	L -> P (in AD; familial).
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	49	49	N -> K (in strain: Berkeley and Zim63H- 30C).
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).
Q9NS82	112	112	E -> D (in a family with cystinuria).
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).
Q8N177	9	9	A -> T (in dbSNP:rs4934).
Q8N177	78	78	L -> P (in COPD; Bochum-1; dbSNP:rs1800463).
Q8N177	167	167	A -> G.
Q8N177	252	252	P -> A (in COPD; Bonn-1; dbSNP:rs17473).
Q8N177	267	267	K -> R (in dbSNP:rs17853314).
Q8N177	401	401	M -> V (associated with occlusive- cerebrovascular disease; Isehara-1).
Q8N177	407	407	D -> G (in dbSNP:rs10956).
Q2M2I8	59	59	I -> V.
Q2M2I8	509	509	K -> Q (in dbSNP:rs6715776).
Q2M2I8	533	533	Q -> H.
Q2M2I8	603	603	V -> A.
Q2M2I8	694	694	T -> M.
Q2M2I8	725	725	P -> T.
Q2M2I8	771	771	P -> R.
Q2M2I8	835	835	D -> G.
P54619	89	89	T -> S (in dbSNP:rs1126930).
P54619	329	329	K -> N (in dbSNP:rs34210356).
Q9UGJ0	302	302	R -> Q (in WPWS and CHMWPWS).
Q9UGJ0	350	350	R -> RL (in CHMWPWS; severe).
Q9UGJ0	383	383	H -> R (in CHMWPWS; severe).
Q9UGJ0	400	400	T -> N (in CHMWPWS; severe).
Q9UGJ0	488	488	N -> I (in CHMWPWS; 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).
Q9MYP4	250	250	R -> Q (in RN-).
Q13685	250	250	I -> V (in dbSNP:rs2305835).
P29997	11	11	G -> R (in strain: Isolate Woodchuck5).
P29997	86	86	R -> G (in strain: Isolate Woodchuck5).
P29997	96	96	D -> E (in strain: Isolate Woodchuck5).
Q13131	7	7	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).
Q7Z4T9	207	207	P -> A (in dbSNP:rs6438544).
Q7Z4T9	253	253	S -> T (in dbSNP:rs9817771).
Q7Z4T9	320	320	S -> C (in dbSNP:rs9819218).
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).
Q0VD83	419	419	A -> P (associated with susceptibility to hypercholesterolemia; dbSNP:rs180743).
P15450	52	52	G -> S.
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).
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.
Q8IUX4	231	231	V -> I (in dbSNP:rs2076101).
Q8IUX4	307	307	Y -> C.
Q9HC16	186	186	H -> R (in dbSNP:rs8177832).
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).
O95477	85	85	P -> L (in HDLD2; Alabama).
O95477	210	210	E -> D (in a colorectal cancer sample; somatic mutation).
O95477	219	219	R -> K (common polymorphism; associated with a decreased severity of CAD; dbSNP:rs2230806).
O95477	230	230	R -> C (in HDLD2; dbSNP:rs9282541).
O95477	255	255	A -> T (in HDLD1; deficient cellular cholesterol efflux).
O95477	399	399	V -> A (in dbSNP:rs9282543).
O95477	587	587	R -> W (in HDLD1; dbSNP:rs2853574).
O95477	590	590	W -> S (in HDLD1).
O95477	597	597	Q -> R (in HDLD1; dbSNP:rs2853578).
O95477	693	693	Missing (in HDLD2).
O95477	771	771	V -> M (in dbSNP:rs2066718).
O95477	774	774	T -> P (in dbSNP:rs35819696).
O95477	776	776	K -> N.
O95477	825	825	V -> I (common polymorphism; dbSNP:rs2066715).
O95477	883	883	I -> M (common polymorphism; dbSNP:rs4149313).
O95477	917	917	D -> Y (in a colorectal cancer sample; somatic mutation).
O95477	929	929	T -> I (in HDLD1).
O95477	935	935	N -> H (in HDLD1; dbSNP:rs28937314).
O95477	935	935	N -> S (in HDLD1; dbSNP:rs28937313).
O95477	937	937	A -> V (in HDLD1).
O95477	1046	1046	A -> D (in HDLD1).
O95477	1054	1054	V -> I (in dbSNP:rs13306072).
O95477	1091	1091	M -> T (in HDLD2).
O95477	1099	1099	D -> Y (in HDLD2; dbSNP:rs28933692).
O95477	1172	1172	E -> D (in dbSNP:rs33918808).
O95477	1181	1181	S -> F.
O95477	1289	1289	D -> N (in HDLD1).
O95477	1407	1407	A -> T (in a colorectal cancer sample; somatic mutation).
O95477	1477	1477	C -> R (in HDLD1).
O95477	1506	1506	S -> L (in HDLD1).
O95477	1517	1517	I -> R (in HDLD1).
O95477	1555	1555	T -> I (in dbSNP:rs1997618).
O95477	1587	1587	R -> K (common polymorphism; dbSNP:rs2230808).
O95477	1611	1611	N -> D (associated with atherosclerosis; deficient cellular cholesterol efflux).
O95477	1648	1648	P -> L (in dbSNP:rs1883024).
O95477	1680	1680	R -> W (in HDLD1; clinical variant).
O95477	1731	1731	S -> C.
O95477	1800	1800	N -> H (in HDLD1).
O95477	1893	1894	Missing (in HDLD2).
O95477	2009	2009	F -> S (in HDLD2).
O95477	2081	2081	R -> W (in HDLD1).
O95477	2109	2109	A -> T (in a colorectal cancer sample; somatic mutation).
O95477	2150	2150	P -> L (in HDLD2).
O95477	2168	2168	P -> L (in dbSNP:rs2853577).
Q99758	101	101	L -> P (in SMDP3).
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.
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.
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.
P78363	2263	2263	R -> L (in STGD1).
Q8WWZ7	93	93	Q -> K (in dbSNP:rs12383).
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).
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	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	489	489	Y -> F (in dbSNP:rs12150510).
O94911	680	680	C -> G (in dbSNP:rs16973424).
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	V -> I (in dbSNP:rs11657804).
Q8WWZ4	916	916	T -> M (in dbSNP:rs4968849).
Q86UK0	459	459	S -> T (in dbSNP:rs7560008).
Q86UK0	550	550	E -> G (in dbSNP:rs16853149).
Q86UK0	777	777	T -> S (in dbSNP:rs7560008).
Q86UK0	1251	1251	G -> D (in dbSNP:rs13414448).
Q86UK0	1380	1380	N -> S (in LI2).
Q86UK0	1381	1381	G -> E (in LI2).
Q86UK0	1514	1514	R -> H (in LI2).
Q86UK0	1539	1539	E -> K (in LI2).
Q86UK0	1546	1546	R -> C (in dbSNP:rs13401480).
Q86UK0	1651	1651	G -> S (in LI2).
Q86UK0	2064	2064	E -> K (in dbSNP:rs1213011).
Q86UK0	2365	2365	D -> N (in HI; dbSNP:rs726070).
Q2M3G0	115	115	K -> E (in dbSNP:rs2301641).
Q2M3G0	224	224	K -> R (in dbSNP:rs13222448).
Q2M3G0	230	230	E -> V (in a colorectal cancer sample; somatic mutation).
Q2M3G0	460	460	Q -> H (in dbSNP:rs35885925).
Q2M3G0	470	470	A -> T (in dbSNP:rs17143304).
Q2M3G0	525	525	K -> E (in dbSNP:rs6461515).
Q9NP58	69	69	R -> G (in a breast cancer sample; somatic mutation).
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	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	471	471	R -> T (in a breast cancer sample; somatic mutation).
Q9NRK6	545	545	D -> N (in dbSNP:rs35698797).
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	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).
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).
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).
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	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).
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).
P28288	17	17	G -> D (in ZWS-2).
O14678	304	304	A -> T (in dbSNP:rs4148077).
O14678	368	368	E -> K (in dbSNP:rs3742801).
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).
Q96LD6	12	12	V -> M (in dbSNP:rs2231137).
Q96LD6	141	141	Q -> K (lower transport efficiency; dbSNP:rs2231142).
Q96LD6	166	166	Q -> E (in dbSNP:rs1061017).
Q96LD6	206	206	I -> L.
Q96LD6	208	208	F -> S (in dbSNP:rs1061018).
Q96LD6	248	248	S -> P (in dbSNP:rs3116448).
Q96LD6	296	296	D -> H.
Q96LD6	316	316	T -> P.
Q96LD6	431	431	F -> L.
Q96LD6	489	489	F -> L.
Q96LD6	528	528	A -> T.
Q96LD6	571	571	F -> I (in dbSNP:rs9282571).
Q96LD6	590	590	N -> Y.
Q96LD6	620	620	D -> N.
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.
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).
P41238	80	80	M -> I (in dbSNP:rs2302515).
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).
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	198	230	Missing (in cell line MDTF).
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).
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	331	331	K -> E (in dbSNP:rs1174657).
Q8WW27	345	345	V -> M (in dbSNP:rs10911390).
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	130	130	Q -> P (in CDS; dbSNP:rs28939077).
Q8WTS1	260	260	E -> K (in CDS).
Q8IUS5	321	321	Y -> F (in dbSNP:rs17854127).
Q9NUJ1	251	251	I -> V (in dbSNP:rs17429033).
Q9BUJ0	32	32	R -> Q (in dbSNP:rs17849626).
Q9BUJ0	61	61	C -> W (in dbSNP:rs404527).
Q9P2A4	44	44	R -> Q (in dbSNP:rs2233369).
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	166	166	R -> K (in a melanoma sample; somatic mutation).
P00519	706	706	G -> V.
P00519	810	810	P -> L.
P00519	852	852	T -> P.
P00519	900	900	P -> S.
P00519	972	972	S -> L.
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).
P19801	16	16	T -> M.
P19801	332	332	S -> F.
P19801	479	479	M -> I.
P19801	645	645	D -> H (in dbSNP:rs1049793).
P19801	659	659	N -> H.
P13689	13	13	A -> G.
P13689	141	141	N -> S.
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).
Q86WB3	838	838	R -> W (in dbSNP:rs2287351).
Q86WB3	1687	1687	R -> Q (in a colorectal cancer sample; somatic mutation).
Q86WB3	2271	2271	A -> V (rare polymorphism; frequency <0.004; may play a role in breast cancer susceptibility).
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	T -> S (in dbSNP:rs1801204).
P28330	333	333	Q -> K (in LCAD deficiency).
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).
P16219	192	192	A -> V (in SCAD deficiency; no detectable activity).
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).
P16219	380	380	R -> W (in SCAD deficiency; no detectable activity).
P16219	383	383	R -> C (in SCAD deficiency).
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	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).
O00400	400	400	V -> A (in a colorectal cancer sample; somatic mutation).
Q5T8D3	472	472	T -> M (in dbSNP:rs7918793).
Q96GR2	194	194	E -> V (in dbSNP:rs12899901).
Q96GR2	633	633	V -> M (in dbSNP:rs2304824).
Q96GR2	673	673	A -> V (in dbSNP:rs11072735).
Q5FVE4	143	143	A -> V (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).
Q2QD80	71	71	D -> Y (in strain: cv. Baekmibaekdadagi).
Q2QD80	117	120	STYQ -> YKYR (in strain: cv. Baekmibaekdadagi).
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	209	209	S -> G (in dbSNP:rs1799823).
P45954	255	255	L -> F (in SBCADD).
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).
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).
P22303	34	34	R -> Q (in dbSNP:rs17881553).
P22303	135	135	P -> A (in dbSNP:rs17885778).
P22303	333	333	V -> E (in dbSNP:rs8286).
P22303	353	353	H -> N (in Yt(b) antigen; dbSNP:rs1799805).
P22966	32	32	S -> P (in dbSNP:rs4317).
P22966	49	49	S -> G (in dbSNP:rs4318).
P22966	342	342	T -> M (in dbSNP:rs3730043).
P22966	444	444	I -> T (in dbSNP:rs4976).
P22966	477	477	F -> V (in dbSNP:rs4977).
P22966	613	613	T -> M.
P22966	654	654	P -> L (no effect on activity; increases secretion).
P22966	705	705	R -> Q (in dbSNP:rs4980).
P22966	712	712	R -> S (in dbSNP:rs4364).
P22966	722	722	Q -> P (in dbSNP:rs4981).
P12821	154	154	A -> T (in dbSNP:rs13306087).
P12821	183	183	A -> T.
P12821	244	244	Y -> C (in dbSNP:rs3730025).
P12821	261	261	A -> S (in dbSNP:rs4303).
P12821	351	351	P -> L (in dbSNP:rs2229839).
P12821	354	354	G -> R.
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.
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).
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	21	21	L -> LL.
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.
Q9UGM1	96	96	R -> Q (in dbSNP:rs10024518).
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.
P30926	136	136	R -> W.
P30926	140	140	S -> G.
P30926	467	467	M -> V.
P11230	285	285	L -> M (in SCCMS).
P11230	289	289	V -> M (in SCCMS).
P11230	449	451	Missing (in CMS1d; 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).
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	98	98	L -> P (in SCCMS; rare example of recessive inheritance).
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 CMS1d; significantly reduced AChR expression).
Q04844	241	241	L -> F (in SCCMS; mild form with variable penetrance).
Q04844	265	265	P -> L (in CMS1d; 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 CMS1d; 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	311	311	I -> M (in dbSNP:rs3811182).
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.
Q07912	99	99	R -> Q (in an ovarian mucinous carcinoma sample; somatic mutation).
Q07912	99	99	R -> W.
Q07912	152	152	T -> M.
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.
Q07912	724	724	P -> L.
Q07912	747	747	R -> Q.
Q07912	1036	1036	R -> H.
Q9Y615	45	45	R -> C.
Q9Y615	161	161	A -> P (in dbSNP:rs35995497).
Q9Y615	340	340	V -> M (in dbSNP:rs7872077).
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).
P53396	175	175	E -> D (in dbSNP:rs2304497).
P20309	65	65	V -> I (in dbSNP:rs2067481).
Q8WXI4	165	165	P -> L (in dbSNP:rs2304306).
Q8WXI4	202	202	G -> D (in dbSNP:rs1702003).
Q8WXI4	212	212	M -> I (in dbSNP:rs2304305).
Q9Y695	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).
P49753	475	475	H -> R (in dbSNP:rs7494).
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:rs1137582).
O15254	34	34	E -> A (in dbSNP:rs12513296).
O15254	497	497	D -> N (in dbSNP:rs13434465).
Q9NUZ1	78	78	T -> M (in dbSNP:rs1554005).
Q9NUZ1	358	358	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).
P78704	303	303	N -> K (confers acriflavine-resistance).
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	513	513	S -> L (in dbSNP:rs1133607).
Q08AH3	561	561	A -> T (in dbSNP:rs1054977).
Q96CM8	75	75	G -> V (in dbSNP:rs17856448).
Q96CM8	316	316	V -> M (in dbSNP:rs3744523).
Q4G176	2	2	P -> L (in dbSNP:rs7188200).
Q4G176	17	17	A -> P (in dbSNP:rs11547019).
Q4G176	372	372	V -> M (in dbSNP:rs3743979).
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	D -> Y (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).
Q9BEA2	372	372	T -> A.
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	308	308	P -> T (in dbSNP:rs7196188).
Q53FZ2	367	367	K -> N (in dbSNP:rs5716).
Q6NUN0	159	159	Q -> H.
Q6NUN0	352	352	P -> R.
Q6NUN0	360	360	H -> R.
Q6NUN0	533	533	T -> M.
Q6P461	227	227	K -> R (in dbSNP:rs7090248).
P62736	196	196	T -> S (in dbSNP:rs1803028).
P62736	320	320	T -> A (in dbSNP:rs1803027).
P62736	373	373	H -> P (in dbSNP:rs1062398).
P60709	183	183	R -> W (in juvenile-onset dystonia; modifies cell response to latrunculin A).
P68032	101	101	E -> K (in CMH).
P68032	166	166	P -> A (in CMH).
P68032	297	297	A -> S (in CMH).
P68032	314	314	R -> H (in CMD1R).
P68032	333	333	A -> P (in CMH).
P68032	363	363	E -> G (in CMD1R).
P63261	89	89	T -> I (in DFNA20; dbSNP:rs28999111).
P63261	118	118	K -> M (in DFNA20).
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).
Q01718	27	27	P -> R.
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).
Q9H568	3	3	A -> S (in dbSNP:rs694214).
Q9H568	245	245	R -> C (in dbSNP:rs3795322).
P35609	604	604	M -> V (in dbSNP:rs35997569).
Q08043	523	523	Q -> R.
Q08043	635	635	E -> A (in dbSNP:rs2229456).
O43707	255	255	K -> E (in FSGS1).
O43707	259	259	T -> I (in FSGS1).
O43707	262	262	S -> P (in FSGS1).
P61914	116	116	P -> D.
P61915	167	167	S -> T.
P68133	17	17	G -> R (in CM).
P68133	42	42	H -> Y (in NEM3; severe).
P68133	96	96	L -> P (in NEM3; autosomal recessive).
P68133	117	117	N -> S (in NEM3; autosomal dominant).
P68133	134	134	M -> V (in NEM3; autosomal dominant).
P68133	138	138	I -> M (in NEM3; autosomal recessive).
P68133	165	165	V -> L (in CM).
P68133	184	184	G -> D (in NEM3; mild).
P68133	185	185	R -> C (in NEM3; severe).
P68133	185	185	R -> G (in NEM3; autosomal dominant; severe).
P68133	223	223	L -> P (in CFTD).
P68133	258	258	R -> H (in NEM3; severe).
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	271	271	M -> R (in NEM3; autosomal dominant).
P68133	282	282	N -> K (in NEM3; severe).
P68133	288	288	D -> G (in NEM3; severe).
P68133	294	294	D -> V (in CFTD).
P68133	334	334	P -> S (in CFTD).
P68133	359	359	I -> L (in NEM3; autosomal dominant; severe).
P68133	372	372	V -> F (in NEM3; severe).
Q8TDY3	247	247	G -> R (in dbSNP:rs3795263).
P42025	93	93	V -> A (in dbSNP:rs11547231).
P60010	143	143	Y -> F (in strain: CBS 1907).
P36896	146	146	F -> L.
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.
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).
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).
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).
P37023	376	376	M -> R (in HHT2).
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).
P37023	399	399	W -> S (in HHT2).
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).
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.
Q04771	41	41	S -> F.
Q04771	47	47	H -> Q.
Q04771	115	115	P -> S (in a melanoma sample; somatic mutation).
Q04771	206	206	R -> H (in FOP).
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.
O43184	48	48	R -> G (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).
Q9H013	134	134	R -> Q (in a colorectal cancer sample; somatic mutation).
Q9H013	299	299	A -> T (in a colorectal cancer sample; somatic mutation).
Q6RUJ9	40	40	G -> W (in a breast cancer sample; somatic mutation).
Q6RUJ9	347	347	C -> R (frequent polymorphism).
P35368	51	51	V -> G (in dbSNP:rs8192448).
Q9P0K1	81	81	P -> R (in dbSNP:rs2279542).
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).
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).
Q9BZ11	109	109	N -> S (in dbSNP:rs41467948).
Q9BZ11	178	178	T -> A (in dbSNP:rs3918392).
Q9BZ11	272	272	T -> M.
Q9BZ11	316	316	V -> I.
Q9BZ11	336	336	P -> S (in dbSNP:rs41483049).
Q9BZ11	365	365	A -> S.
Q9BZ11	441	441	D -> E.
Q9BZ11	515	515	W -> R.
Q9BZ11	612	612	L -> H.
Q9BZ11	710	710	V -> I.
Q9BZ11	739	739	C -> G.
Q9BZ11	742	742	D -> Y.
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	307	307	G -> R (in dbSNP:rs11149631).
Q99965	10	10	G -> W (in dbSNP:rs34800519).
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).
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 SCID; loss of activity).
P00813	20	20	G -> R (in SCID; loss of activity).
P00813	74	74	G -> C (in SCID; delayed-onset).
P00813	76	76	R -> W (in SCID).
P00813	80	80	K -> R.
P00813	83	83	A -> D (in SCID; loss of activity).
P00813	101	101	R -> L (in SCID).
P00813	101	101	R -> Q (in SCID; loss of activity).
P00813	101	101	R -> W (in SCID).
P00813	107	107	L -> P (in SCID).
P00813	129	129	V -> M (in SCID; delayed-onset).
P00813	140	140	G -> E (in SCID).
P00813	142	142	R -> Q (in SCID; 20% of activity; ADA deficiency of late onset).
P00813	149	149	R -> Q (in SCID).
P00813	149	149	R -> W (in SCID).
P00813	152	152	L -> M (in SCID; 1,5% of activity, partial ADA deficiency).
P00813	156	156	R -> C (in SCID).
P00813	156	156	R -> H (in SCID).
P00813	177	177	V -> M (in SCID; loss of activity).
P00813	179	179	A -> D (in SCID; loss of activity).
P00813	199	199	Q -> P (in SCID; delayed-onset).
P00813	211	211	R -> C (in SCID; late onset).
P00813	211	211	R -> H (in SCID).
P00813	215	215	A -> T (in SCID).
P00813	216	216	G -> R (in SCID; severe).
P00813	233	233	T -> I (in SCID; 20% of activity, partial ADA deficiency).
P00813	274	274	P -> L (in SCID).
P00813	291	291	S -> L (in SCID).
P00813	297	297	P -> Q (in SCID).
P00813	304	304	L -> R (in SCID; loss of activity).
P00813	329	329	A -> V (in SCID).
P00813	337	337	Missing (in SCID).
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.
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	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.
Q96D53	174	174	H -> R (in dbSNP:rs3865452).
Q96D53	318	318	T -> M.
Q96D53	352	352	T -> R.
Q96D53	462	462	T -> M.
Q3MIX3	17	17	R -> S (in dbSNP:rs6599528).
Q6P093	186	186	A -> S (in dbSNP:rs1972977).
Q6P093	343	343	L -> I (in dbSNP:rs1052562).
Q08828	456	456	P -> L.
Q08828	940	940	A -> T (in dbSNP:rs45444695).
Q08462	147	147	V -> L (in dbSNP:rs13166360).
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).
Q96PN6	234	234	T -> M (in dbSNP:rs16859886).
Q96PN6	697	697	V -> I (in dbSNP:rs2071921).
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).
Q7Z689	28	28	D -> N (in dbSNP:rs4986).
Q7Z689	335	335	E -> D (in dbSNP:rs4982).
Q7Z689	439	439	T -> A (in dbSNP:rs17855969).
Q7Z689	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).
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).
P00326	48	48	R -> H.
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.
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).
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.
P08319	309	309	V -> I.
P08319	318	318	R -> H.
P08319	374	374	I -> V.
P28332	102	102	C -> G (in dbSNP:rs28720152).
P28332	114	114	I -> V (in dbSNP:rs28720153).
P40394	80	80	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.
P11766	309	309	V -> I.
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).
Q6LCE4	34	34	V -> F (in strain: PS246).
Q6LCE4	68	68	V -> I (in strain: PS230).
Q6LCE4	185	185	K -> R (in strain: PS295).
Q05114	57	57	V -> I (in strain: 0811.4).
Q05114	77	77	T -> A (in strain: 0811.0 and Lima).
Q05114	138	138	S -> P (in strain: Manaus I).
Q05114	194	194	S -> P (in strain: Manaus III).
Q05114	213	213	T -> A (in strain: Cano Mora and Atlixco).
Q05114	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.
Q15848	90	90	G -> S.
Q15848	111	111	Y -> H (in dbSNP:rs17366743).
Q15848	112	112	R -> C (in adiponectin deficiency).
Q15848	117	117	V -> M.
Q15848	164	164	I -> T.
Q15848	221	221	R -> S.
Q15848	241	241	H -> P.
Q60994	113	113	M -> V.
P35318	50	50	S -> R (in dbSNP:rs5005).
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).
Q9NST1	99	99	C -> G (in dbSNP:rs2076213).
Q9NST1	115	115	G -> C (in dbSNP:rs2076212).
Q9NST1	148	148	I -> M (in dbSNP:rs738409).
Q9NST1	434	434	K -> E (in dbSNP:rs2294918).
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.
Q9UHA1	16	16	R -> G (common polymorphism; in nocturnal asthma; dbSNP:rs1042713).
Q9UHA1	27	27	Q -> E (in dbSNP:rs1042714).
Q9UHA1	34	34	V -> M.
Q9UHA1	159	159	I -> F.
Q9UHA1	159	159	I -> L.
Q9UHA1	164	164	T -> I (in dbSNP:rs1800888).
Q9UHA1	220	220	S -> C (in dbSNP:rs3729943).
Q9UHA1	375	375	K -> R.
P13945	64	64	W -> R (in dbSNP:rs4994).
P13945	249	249	E -> K.
P13945	265	265	T -> M (in dbSNP:rs4995).
P13945	353	353	R -> C.
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.
P22570	123	123	R -> Q.
P22570	213	213	G -> V.
P22570	248	248	P -> L.
P22570	251	251	R -> W.
P22570	301	301	R -> C.
P22570	345	345	T -> M.
P22570	352	352	P -> S.
P22570	472	472	T -> A.
P12235	90	90	A -> D (in PEOA2).
P12235	98	98	L -> P (in PEOA2).
P12235	104	104	D -> G (in PEOA2).
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).
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.
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).
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).
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	274	274	T -> K (in dbSNP:rs41305329).
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).
P51816	1185	1185	L -> M (in dbSNP:rs12858959).
P51826	358	358	S -> N (in dbSNP:rs4851223).
P51826	494	494	N -> S (in dbSNP:rs1047265).
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).
Q5I7T1	447	447	V -> I (in aLQTS; low frequency; exerts a greater protective effect against drug blackage of acardiac potassium channel).
Q7Z7L8	26	26	A -> T (in dbSNP:rs1973717).
Q7Z7L8	47	47	P -> S (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).
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).
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 -> V (in FD).
P06280	45	46	LH -> RS (in FD).
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	4