RHD: Alleles by mutation

include SNP without alleles

5' region
GRCh38.p12	Position	Substitution	Effect	Templated	Alleles
25265487	-7061	-7061del 12			RHD deletion
25272433	-115	-115A>C			RHD(-115A>C)
Exon 1
25272538	-10	-10C>T			RHD(-10C>T)
25272548	1	1A>G	Met1?		RHD(M1V,T379M)
25272548	1	1del Ex1			RHD(delEx1)
25272549	2	2T>C	M1T		RHD(M1T)
25272550	3	3G>A	M1I		RHD(M1I) RHD(M1I,L84P)
25272550	3	3ins GTG	1Met_2SerinsVal		RHD(M1_S2insV,T379M)
25272555	8	8C>G	S3C		weak D type 3.1 weak D type 3
25272564	17	17C>T	P6L		weak D type 31
25272566	19	19C>T	R7W		weak D type 18
25272573	26	26T>A	V9D		weak D type 26
25272574	27	27del 13			RHD(27del13)
25272575	28	28C>T	R10W		weak D type 61
25272576	29	29G>A	R10Q		weak D type 6
25272576	29	29G>C	R10P		weak D type 71
25272576	29	29G>T	R10L		RHD(R10L)
25272576	29	29del 15			RHD(29del14)
25272588	41	41C>G	P14R		weak D type 145
25272588	41	41C>T	P14L		weak D type 136
25272593	46	46T>C	W16R		RHD(W16R)
25272595	48	48G>A	W16X		RHD(W16X)
25272595	48	48G>C	W16C	X	DAU-13 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DUC-3 weak D type 4.1
25272599	52	52C>G	L18V		weak D type 1.1
25272600	53	53T>C	L18P		RHD(L18P)
25272600	53	53del T			RHD(53dekT)
25272606	59	59T>C	L20P		RHD(L20P)
25272609	62	62A>C	E21A		weak D type 101
25272612	65	65C>A	A22E		weak D type 56
25272614	67	67G>C	A23P		weak D type 89
25272614	67	67G>T	A23S		weak D type 142
25272615	68	68C>A	A23D		weak D type 65
25272620	73	73A>T	I25F		weak D type 102
25272622	75	75dupTCT	26insL		RHD(26dupL)
25272625	78	78del C			RHD(78delC)
25272626	79	79del CTC			RHD(79delCTC)
25272638	91	91T>A	F31I		weak D type 103
25272639	92	92T>C	F31S		weak D type 52
25272640	93	93T>A	F31L		RHD(F31L)
25272640	93	93del C			RHD(93delC)
25272640	93	93ins T			RHD(93insT)
25272642	95	95C>A	T32N		RHD(T32N)
25272648	101	101A>G	Y34C		RHD(Y34C)
25272652	105	105C>G	D35E		RHD(D35E,A399T)
25272660	113	113T>A	L38X		RHD(L38X)
25272666	119	119A>G	D40G		RHD(D40G)
25272667	120	120T>A	D40E		DDE
25272668	121	121C>T	Q41X		RHD(Q41X)
25272671	124	124del AA			RHD(124delAA)
25272677	130	130del CTC			RHD(del44L)
25272690	143	143A>G	Y48C		RHD(Y48C)
25272693	146	146A>G	Q49R		RHD(Q49R)
25272694	147	147A>G	Q49Q		RHD(147A>G)
25272694	147	147del A			RHD(147del A)
IVS 1
25272696	IVS1+1	IVS1+1G>A	RHD(IVS1+1G>A)
25272696	IVS1+1	IVS1+1G>T	RHD(IVS1+1G>T)
25272700	IVS1+5	IVS1+5G>C	RHD(IVS1+5G>C)
25272701	IVS1+6	IVS1+6del A	RHD(147del A)
25284544	IVS1-29	IVS1-29G>C	RHD(IVS1-29G>C) RHD(S112T)
Exon 2
25284573	149	149T>A	V50D		RHD(V50D)
25284574	150	150T>C		X	DAR(CE2:V50V-S68N) DHAR DIII type 7 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIIIa150C DKK RHCE(1-3)-RHD(4-10) RHCE(1-9)-RHD DAU-0.2 DIIIb (Caucasian) RHD-RHCE(2)-RHD(F355S) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-ceAG.05(2)-D
25284581	157	157G>T	D53Y		RHD(D53Y)
25284585	161	161T>C	L54P		DMH
25284587	163	163A>C	T55P		weak D type 130
25284589	165	165C>T			RHD(165C>T) weak D type 68
25284590	166	166G>A	V56M		RHD(V56M,W90X)
25284597	173	173C>T	A58V		weak D type 143
25284599	175	175G>A	A59T		weak D type 151
25284600	176	176C>A	A59D		weak D type 121
25284602	178	178A>C	I60L	X	DAR(CE2:V50V-S68N) DHAR DIII type 7 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DKK RHCE(1-3)-RHD(4-10) RHCE(1-9)-RHD RHD(60L,S230I) RHD(I60L) RHD(I60L,N152T,T201R,F223V,G263R) weak D type 3.1 DIIIb (Caucasian) RHD-RHCE(2)-RHD(F355S) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-ceAG.05(2)-D weak D type 29 RHD(I60L,S68N,K198N,F223V,G314V,I342T)
25284602	178	178A>G	I60V		RHD(I60V,S103P,F161S,L214F)
25284606	182	182G>C	G61A		weak D type 88
25284606	182	182G>T	G61V		weak D type 48
25284610	186	186G>T	L62F		Ccdes-1 D-SPM D186T DIII type 4 DIII type 4.2 DIII type 5 DIII type 9 DIIIa150C DIV(S103P) DIV-DOL DIV type 1.1 DIV type 1.0 DIVa-like
25284611	187	187G>T	G63C		weak D type 152
25284624	200	200C>G	S67W		weak D type 105
25284625	201	201G>A		X	DAR(CE2:V50V-S68N) DHAR DIII type 7 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DKK RHCE(1-3)-RHD(4-10) RHCE(1-9)-RHD DAU-14 DIIIb (Caucasian) RHD-RHCE(2)-RHD(F355S) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-ceAG.05(2)-D weak D type 29 RHD(I60L,S68N,K198N,F223V,G314V,I342T)
25284627	203	203G>A	S68N	X	DAR(CE2:V50V-S68N) DHAR DIII type 7 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DKK RHCE(1-3)-RHD(4-10) RHCE(1-9)-RHD DAU-14 DIIIb (Caucasian) RHD-RHCE(2)-RHD(F355S) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-ceAG.05(2)-D weak D type 29 RHD(I60L,S68N,K198N,F223V,G314V,I342T)
25284627	203	203G>C	S68T		RHD(S68T)-RHCe(3-9)-RHD weak D type 74
25284632	208	208C>T	R70W		weak D type 122 weak D type 45.2
25284632	208	208del insTG			RHD(208delinsTG)
25284633	209	209G>A	R70Q		DAU-2 weak D type 85
25284637	213	213A>T	R71S		RHD(R71S)
25284639	215	215AC>CA	72H>P		RHD(H72P,S73C)
25284640	216	216dupCA			RHD(216dupCA,1195G>A)
25284641	217	217A>T	S73C		RHD(H72P,S73C)
25284644	220	220T>G	W74G		weak D type 106
25284647	223	223A>T	S75C		weak D type 107
25284651	227	227G>A	S76N		weak D type 84
25284666	242	242T>C	L81P		RHD(L81P)
25284675	251	251T>C	L84P		RHD(L84P) RHD(M1I,L84P)
25284678	254	254C>G	A85G		weak D type 131 RHD-ceAG.05(2)-D
25284678	254	254C>T	A85V		DAU-11
25284679	255	255G>A	A85A		RHD(255G>A, 1227G>A,)
25284684	260	260G>A	G87D		weak D type 35
25284690	266	266A>G	Q89R		RHD(Q89R)
25284694	270	270G>A	W90X		RHD(V56M,W90X) RHD(W90X)
25284702	278	278T>G	L93R		RHD(L93R)
25284708	284	284A>G	D95G		RHD(D95G)
25284710	286	286G>A	G96S		RHD(G96S)
25284710	286	286G>C	G96R		RHD(G96R)
25284711	287	287G>A	G96D		RHD(G96D)
25284721	297	297del 23			RHD(297del23)
25284725	301	301T>A	F101I		weak D type 2.1
25284731	307	307T>C	S103P	X	DHAR DIII type 4.2 DIII type 7 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV(S103P) DKK DVII type 2 RHCE(1-3)-RHD(4-10) RHCE(1-9)-RHD RHD(I60V,S103P,F161S,L214F) RHD(S103P) DIIIb (Caucasian) RHD-RHCE(2)-RHD(F355S) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-ceAG.05(2)-D
25284749	325	325del A			RHD(325delA)
25284751	327	327327_487-4164dup			weak D type 150
25284753	329	329T>C	L110P		DVII DVII type 2 RHD(L110P)-CE(3-9)-D
25284754	330	330del GT			RHD(330delGT)
25284758	334	334A>G	S112G		RHD(S112G)
25284759	335	335G>C	S112T		RHD(S112T)
25284759	335	335G>T	S112I		RHD(S112I)
IVS 2
25284760	IVS2+1	IVS2+1G>A	RHD(IVS2+1G>A)
25285408	IVS2+649	IVS2+649del 10625	RHD delEx3 type 1
25290639	IVS2-2	IVS2-2A>G	RHD(IVS2-2A>G)
25290639	IVS2-2	IVS2-2del A	RHD(IVS2-2delA)
25290640	IVS2-1	IVS2-1G>A	RHD(IVS2-1G>A)
Exon 3
25290641	336	336del 17			DVI type 1 (deletion type)
25290645	340	340C>G	R114G		weak D type 47
25290645	340	340C>T	R114W		DAU-8 weak D type 17
25290646	341	341G>A	R114Q		RHD(R114Q,A399T) weak D type 25
25290648	343	343del C			RHD(343del C)
25290651	346	346G>A	A116T		weak D type 117
25290651	346	346G>C	A116P		weak D type 116
25290652	347	347C>T	A116V		weak D type 118
25290658	353	353T>A	M118K		RHD(M118K,V174M)
25290661	356	356del 11			RHD(356de11)
25290662	357	357T>C			DBO-2
25290664	359	359C>A	A120D		weak D type 93
25290666	361	361T>A	L121M	X	DFR-5 DHAR DIIIc DKK DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-3)-RHD(4-10) RHCE(1-9)-RHD RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(3)--weak D type 4.0 RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25290666	361	361del 11			RHCE-D(3[361del11]-10) RHD(361del11)
25290670	365	365C>G	S122W		weak D type 153
25290670	365	365C>T	S122L		weak D type 54
25290679	374	374T>A	I125N		weak D type 87
25290681	376	376T>C	S126P		weak D type 109
25290684	379	379G>T	V127L		weak D type 123
25290685	380	380T>C	V127A	X	DFR-5 DHAR DIIIc DKK DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-3)-RHD(4-10) RHCE(1-9)-RHD RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(3)--weak D type 4.0 RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25290688	383	383A>G	D128G	X	DFR-5 DHAR DIIIc DKK DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-3)-RHD(4-10) RHCE(1-9)-RHD RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(3)--weak D type 4.0 RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25290689	384	384T>C	D128D		RHD(384T>C)
25290699	394	394G>A	G132R		weak D type 132
25290699	394	394G>C	G132R		weak D type 132.0.1
25290700	395	395G>A	G132E		weak D type 133
25290700	395	395dupGG			RHD(396insGG)
25290704	399	399G>C	K133N		RHD(K133N)
25290704	399	399G>T	K133N		weak D type 37
25290708	403	403A>G	N135D		RHD(N135D)
25290715	410	410C>A	A137E		RHD(A137E)
25290715	410	410C>T	A137V		Ccdes-1 D-SPM DIII type 4 DIII type 4.2 DIII type 5 DIII type 6 DIII type 7 DIII type 8 DIII type 9 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIIIa150C DIV(S103P) DIV-DOL DIV type 1.0 DOL-3 DOL-4 RHD(A137V,N152T)-CE(4-6)-D(7-10) DIVa-like
25290718	413	413A>G	Q138R		weak D type 110
25290729	424	424del ATG	142delM		RHD(142delM)
25290741	436	436G>A	E146K		weak D type 147
25290743	438	438G>C	E146D		weak D type 146
25290744	439	439G>A	V147M		RHD(V147M,A399T)
25290748	443	443C>G	T148R		RHD(T148R) RHD(T148R,T195M)
25290751	446	446C>A	A149D		weak D type 5
25290754	449	449del T			RHD(449del T)
25290757	452	452G>A	G151D		RHD(G151D)
25290760	455	455A>C	N152T	X	Ccdes-1 D-SPM DFR-5 DHAR DIII type 4 DIII type 4.2 DIII type 5 DIII type 6 DIII type 7 DIII type 8 DIII type 9 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIIIa150C DIIIc DIV(S103P) DIV-DOL DIV type 1.1 DIV type 1.0 DKK DNT DOL-4 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-3)-RHD(4-10) RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(I60L,N152T,T201R,F223V,G263R) RHD(L110P)-CE(3-9)-D DIVa-like RHD(N152T,T201R,F223V) RHD(N152T,V270G) RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(3)--weak D type 4.0 RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25290763	458	458T>C	L153P		RHD(L153P)
25290768	463	463A>G	M155V		RHD(M155V)
25290787	482	482T>C	F161S		RHD(I60V,S103P,F161S,L214F)
25290787	482	482T>G	F161C		RHD(F161C)
25290790	485	485A>G	N162S		DNS
IVS 3
25290792	IVS3+1	IVS3+1G>A	RHD(IVS3+1G>A)
25290793	IVS3+2	IVS3+2T>A	RHD(IVS3+2T>A)
25290794	IVS3+3	IVS3+3G>C	weak RHD(IVS3+3G>C)
25290796	IVS3+5	IVS3+5G>A	RHD(IVS3+5G>A)
Exon 4
25300946	487	487del ACAG			RHD(489delAGAC)
25300949	490	490G>A	D164N		DDN
25300951	492	492C>A	D164E		RHD(D164E)
25300951	492	492C>G	D164E		RHD(D164E)
25300953	494	494A>G	Y165C		DFL
25300955	496	496C>G	H166D		RHD(H166D)
25300956	497	497A>C	H166P		DFW
25300964	505	505A>C	M169L	X	Ccdes-1 Ccdes-2 DFR-1 DFR-2 DFR-3 DFR-4 DFR-5 DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25300968	509	509T>C	M170T		D-SPM DIV-DOL DOL-1 DOL-2 DOL-3 DOL-4
25300968	509	509T>G	M170R	X	Ccdes-1 Ccdes-2 DFR-1 DFR-2 DFR-3 DFR-4 DFR-5 DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25300969	510	510G>A	M170I		DMI
25300969	510	510G>T	M170I		DMI-1.1
25300969	510	510dup			RHD(510insG)
25300970	511	511C>G	H171D		RHD(H171D)
25300972	513	513C>A	H171Q		DHQ
25300973	514	514A>T	I172F	X	Ccdes-1 Ccdes-2 DFR-1 DFR-2 DFR-3 DFR-5 DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25300978	519	519C>T			RHD(519C>T)
25300979	520	520G>A	V174M		RHD(520G>A,1080_1989del) RHD(M118K,V174M) RHD(V174M,G307R) RHD(V174M,V306I) weak D type 33
25300984	525	525C>A	F175L		RHD(F175L)
25300985	526	526G>A	A176T		RHD(A176T)
25300994	535	535T>C	F179L		DAU-9
25300995	536	536T>C	F179S		RHD(F179S)
25300996	537	537T>G	F179L		RHD(F179L)
25300997	538	538G>A	G180R		RHD(G180R)
25300998	539	539G>A	G180E		weak D type 80
25300998	539	539G>C	G180A		DFR-3
25301001	542	542T>C	L181P		weak D type 97 DAU-12
25301003	544	544T>A	S182F	X	RHD-RHCE(2-5)-RHD
25301003	544	544T>A	S182T	X	Ccdes-1 Ccdes-2 DFR-2 DFR-5 DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 weak D type 14
25301004	545	545del CTGT			RHD(545delCTGT)
25301013	554	554G>A	W185X		RHD(W185X)
25301014	555	555G>A	W185X		RHD(W185X) [c,555G>A]
25301019	560	560T>C	L187P		weak D type 79
25301026	567	567G>T	K189N		RHD(K189N,S257F)
25301035	576	576C>T			RHD(576C>T)
25301036	577	577G>A	E193K	X	Ccdes-1 Ccdes-2 DFR-2 DFR-5 DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25301038	579	579G>A			DAU-0.1 DAU-8 DAU-10
25301038	579	579G>C	E193D		weak D type 144
25301040	581	581dupG			RHD(581insG)
25301043	584	584C>T	T195M		RHD(T148R,T195M)
25301053	594	594A>T	K198N	X	Ccdes-1 Ccdes-2 DFR-2 DFR-5 DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) weak D type 124 weak D type 4.4 RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 weak D type 14 weak D type 29 RHD(I60L,S68N,K198N,F223V,G314V,I342T) weak D type 51
25301057	598	598C>T	Q200X		RHD(Q200X)
25301061	602	602C>G	T201R	X	Ccdes-1 Ccdes-2 DAR1 (weak D type 4.2.0) DAR(CE2:V50V-S68N) DAR(T203A) DAR-E DAR2.1 DFR-2 DFR-5 DHAR DIII type 5 DIII type 6 DIII type 7 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIIIa150C DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(I60L,N152T,T201R,F223V,G263R) weak D type 4.4 RHD(L110P)-CE(3-9)-D RHD(N152T,T201R,F223V) RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) RHD(T201R,F223V,G307R) weak D type 4.5 RHD(T201R,F223V,K264N,A273A) RHD(T201R,V270G) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(3)--weak D type 4.0 RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 weak D type 14 weak D type 4.0 weak D type 4.0.1 weak D type 4.1 weak D type 4.2.1 (DAR1.1) weak D type 4.2.2 (DAR1.2) weak D type 4.2.3 (DAR1.3) weak D type 4.3 weak D type 40 weak D type 51
25301064	605	605C>T	A202V		weak D type 43
25301066	607	607A>G	T203A		DAR(T203A)
25301068	609	609G>A			RHD psi RHD(M218I, F223V, S225F) RHD(M218I, F223V, S225F,Y269X) RHDpsi-OT1
25301070	611	611T>C	I204T		weak D type 19
25301074	615	615del CA			RHD(615delCA)
25301080	621	621G>C	L207F		DMA
25301085	626	626C>T	A209V		RHD(A209V)
25301093	634	634G>A	G212S		weak D type 111
25301093	634	634G>C	G212R		RHD(G212R)
25301093	634	634G>T	G212C		weak D type 23
IVS 4
25301094	IVS4+1	IVS4+1G>A	RHD(IVS4+1G>A)
25301094	IVS4+1	IVS4+1G>T	RHD(IVS4+1G>T,1136C>T)
25301095	IVS4+2	IVS4+2T>A	RHD(IVS4+2T>A)
25301098	IVS4+5	IVS4+5G>A	weak RHD(IVS4+5G>A)
25301098	IVS4+5	IVS4+5G>T	RHD(IVS4+5G>T)
25301518	IVS4-2	IVS4-2A>C	RHD(IVS4-2A>C)
25301518	IVS4-2	IVS4-2A>G	RHD(IVS4-2A>G)
Exon 5
25301520	635	635G>A	G212D		weak D type 112
25301520	635	635G>T	G212V		RHD(G212V)
25301521	636	636C>T			DUC-1
25301525	640	640C>T	L214F		RHD(I60V,S103P,F161S,L214F) RHD(L214F)-CE(7)-D weak D type 57
25301528	643	643T>C	F215L		RHD(Q41X)
25301531	646	646T>C	L216L		RHD(Q41X)
25301533	648	648G>C	L216F		weak D type 154
25301537	652	652AT>G			RHD(652delA 653T>G)
25301539	654	654G>C	M218I		RHD psi RHD(M218I, F223V, S225F) RHD(M218I, F223V, S225F,Y269X) RHDpsi-OT1
25301543	658	658T>C	W220R		weak D type 16
25301545	660	660del G			RHD(660delG)
25301546	661	661C>A	P221T		weak D type 62
25301546	661	661C>T	P221S		weak D type 27
25301547	662	662C>G	P221R		RHD(P221R)
25301552	667	667T>G	F223V	X	Ccdes-1 Ccdes-2 D-SPM DAR1 (weak D type 4.2.0) DAR(CE2:V50V-S68N) DAR(T203A) DAR-E DAR2.1 DAU-5 DBS-0 DBS-1 DBS-2 DBT-1 DBT-2 DBU DCS-1 DFV DFV.1 DIII type 5 DIII type 6 DIII type 7 DIII type 9 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIIIa150C DIV-DOL DLX DOL-1 DOL-2 DOL-3 DOL-4 DTO DV type 1 DV type 10 DV type 2 DV type 6 DV type 7 DV type 8 DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHD psi RHD(A137V,N152T)-CE(4-6)-D(7-10) DAU-5.1 RHD(F223V,G278V) RHD(F223V,K267M) RHD(I60L,N152T,T201R,F223V,G263R) weak D type 4.4 RHD(L110P)-CE(3-9)-D DIVa-like RHD(M218I, F223V, S225F) RHD(M218I, F223V, S225F,Y269X) RHD(N152T,T201R,F223V) RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) RHD(T201R,F223V,G307R) weak D type 4.5 RHD(T201R,F223V,K264N,A273A) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(3)--weak D type 4.0 RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE[245V](5)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 RHD-cE(5-6)-D RHDpsi-OT1 weak D type 29 RHD(I60L,S68N,K198N,F223V,G314V,I342T) weak D type 4.0 weak D type 4.0.1 weak D type 4.1 weak D type 4.2.1 (DAR1.1) weak D type 4.2.2 (DAR1.2) weak D type 4.2.3 (DAR1.3) weak D type 4.3
25301553	668	668T>C	F223S		weak D type 141
25301555	670	670A>G	N224D		weak D type 148
25301556	671	671A>G	N224S		weak D type 125
25301559	674	674C>T	S225F		D674 DTO RHD psi RHD(M218I, F223V, S225F) RHD(M218I, F223V, S225F,Y269X) RHDpsi-OT1
25301561	676	676G>C	A226P	X	DBS-0 DBS-1 DBS-2 DBU DCS-1 DCS-2 DVI type 1 RHD-RHcE[226P](5:676-5:733)-RHD RHD-cE(5-6)-D
25301562	677	677C>A	A226D		DCC
25301565	680	680T>C	L227P		DBA
25301568	683	683T>A	L228Q		RHD(L228Q)
25301568	683	683del 16			RHD(683del16)
25301569	684	684del GAG	229delR		DVL-1
25301571	686	686G>A	R229K		DHR
25301574	689	689G>A	S230N		RHD(S230N)
25301574	689	689G>T	S230I		DAU-1 RHD(60L,S230I) RHD(S230I)
25301576	691	691CC>TT	P231L		RHD(P231L)
25301582	697	697G>A	E233K		DAU-4 DHK
25301582	697	697G>C	E233Q	X	Ccdes-1 Ccdes-2 DAR-E DAR2.1 DAU-5 DBS-0 DBS-1 DBS-2 DBT-1 DBT-2 DBU DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DV type 1 DV type 10 DV type 2 DV type 4 DV type 6 DV type 7 DV type 8 DV type 9 DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHCE(5:697-5:744)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) DAU-5.1 RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE[245V](5)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 RHD-RHcE[226P](5:676-5:733)-RHD RHD-cE(5-6)-D
25301582	697	697del G	E233Kfs*13		RHD(697delG)
25301585	700	700A>T	R234W		DYU
25301587	702	702del G			RHD(702delG)
25301589	704	704A>C	K235T		DHO
25301590	705	705G>T	K235N		RHD(K235N)
25301590	705	705del GAA	235delK		DVL-2
25301595	710	710C>A	A237D		RHD(A237D)
25301595	710	710C>T	A237V		weak D type 155
25301596	711	711del C			RHD(711del C)
25301597	712	712G>A	V238M	X	Ccdes-1 Ccdes-2 DBS-0 DBS-1 DBT-1 DBT-2 DBU DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DLX DV type 10 DV type 2 DV type 6 DV type 7 DV type 8 DV type 9 DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHCE(5:697-5:744)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) weak D type 1.2 RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE[245V](5)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 RHD-RHcE[226P](5:676-5:733)-RHD RHD-cE(5-6)-D
25301597	712	712G>C	V238L		RHD(V238L,V270G)
25301597	712	712del G			RHD(712delG)
25301603	718	718A>C	N240H		RHD(N240H)
25301606	721	721A>C	T241P		RHD(T241P)
25301607	722	722C>T	T241I		weak D type 67
25301612	727	727T>A	Y243N		weak D type 50
25301613	728	728A>G	Y243C		weak D type 44
25301614	729	729T>A	Y243X		RHD(Y243X)
25301615	730	730G>C	A244P		weak D type 95
25301616	731	731C>T	A244V		weak D type 96
25301618	733	733G>C	V245L	X	DBS-1 DBT-1 DBT-2 DBU DLX DUC-2 DV type 10 DV type 2 DV type 7 DV type 8 DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHCE(5:697-5:744)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) RHD(V245L,G263R,K267M) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE(5:733-5:787)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 RHD-RHcE[226P](5:676-5:733)-RHD RHD-cE(5-6)-D
25301624	739	739G>C	V247L		RHD(V247L) DAU-10
25301625	740	740T>G	V247G		weak D type 53
25301629	744	744C>T		X	Ccdes-1 Ccdes-2 DAR(T203A) DAR2.1 DBS-1 DBT-1 DBT-2 DBU DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DLX DV type 10 DV type 2 DV type 7 DV type 8 DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHCE(5:697-5:744)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(I60L,N152T,T201R,F223V,G263R) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) RHD(V245L,G263R,K267M) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE(5:733-5:787)-RHD RHD-RHCE[245V](5)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 RHD-cE(5-6)-D RHD-ceAG.05(2)-D weak D type 29 RHD(I60L,S68N,K198N,F223V,G314V,I342T) weak D type 4.2.2 (DAR1.2) weak D type 4.2.3 (DAR1.3)
25301630	745	745del 13			RHD(745del13) RHD*745_757del
25301636	751	751A>C	T251P		weak D type 98
25301643	758	758T>A	I253N		weak D type 63
25301643	758	758TC>AG			RHD(745del13)
25301646	761	761C>G	S254X		RHD(S254X)
25301646	761	761C>T	S254L		RHD(S254L,T379M)
25301648	763	763G>A	G255R		RHD(G255R)
25301651	766	766T>C	S256P		weak D type 77
25301652	767	767C>G	S256X		RHD(S256X)
25301655	770	770C>T	S257F		RHD(K189N,S257F) weak D type 49
25301658	773	773T>C	L258S		RHD(L258S)
25301664	779	779A>G	H260R		weak D type 149
25301665	780	780C>A	H260Q		weak D type 137
25301666	781	781C>G	P261A		RHD(P261A)
25301670	785	785del A			RHD(786del A)
25301672	787	787G>A	G263R	X	Ccdes-1 Ccdes-2 DBS-1 DBT-1 DBT-2 DBU DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DLX DV type 10 DV type 2 DV type 7 DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) weak D type 100 RHD(G263R,A399T) RHD(I60L,N152T,T201R,F223V,G263R) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) RHD(V245L,G263R,K267M) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE(5:733-5:787)-RHD RHD-RHCE[245V](5)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 RHD-cE(5-6)-D
25301672	787	787GG>TT	G263L		RHD(G263L,T379M)
25301677	792	792G>T	K264N		RHD(T201R,F223V,K264N,A273A)
25301681	796	796A>G	S266G		RHD(S266G,V270G)
25301685	800	800A>T	K267M	X	Ccdes-1 Ccdes-2 DBS-1 DBT-1 DBT-2 DBU DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DLX DV type 10 DV type 2 DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(F223V,K267M) RHD(K267M) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) RHD(V245L,G263R,K267M) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE[245V](5)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 RHD-cE(5-6)-D
IVS 5
25301687	IVS5+1	IVS5+1G>A	RHD(IVS5+1G>A)
25303281	IVS5-41	IVS5-41del CTCT	RHD(L386X)
25303284	IVS5-38	IVS5-38del tctc	RHD(IVS5-38del tctc)
Exon 6
25303327	807	807T>G	Y269X		RHD psi RHD(M218I, F223V, S225F,Y269X) RHD(Y269X)
25303329	809	809T>A	V270E		weak D type 34
25303329	809	809T>G	V270G		RHD(N152T,V270G) RHD(S266G,V270G) RHD(T201R,V270G) RHD(V238L,V270G) weak D type 1.2 weak D type 1 weak D type 1.1
25303338	818	818C>A	A273E		weak D type 120
25303338	818	818C>T	A273V		weak D type 119 weak D type 45.2 weak D type 45.1
25303339	819	819G>A	A273A		DFV.1 DIII type 5 DIII type 6 DIII type 7 DIIIa150C weak D type 4.4 RHD(T201R,F223V,G307R) weak D type 4.5 RHD(T201R,F223V,K264N,A273A) RHD-RHCE(3)--weak D type 4.0 weak D type 4.0 weak D type 4.1 weak D type 4.3
25303342	822	822del G			RHD(822delG)
25303346	826	826G>C	A276P		weak D type 13
25303350	830	830G>A	G277E		weak D type 12
25303353	833	833G>A	G278D		weak D type 38
25303353	833	833G>T	G278V		RHD(F223V,G278V)
25303355	835	835G>A	V279M		DAU-3 DAU-7 DAU-11 RHDpsi-OT1
25303358	838	838G>A	A280T		DEL RHD(A280T)
25303361	841	841G>C	V281L		RHD(V281L)
25303362	842	842T>G	V281G		weak D type 36
25303363	843	843G>T			RHD(843G>T)
25303365	845	845G>A	G282D		weak D type 15
25303368	848	848C>T	T283I		DHMi
25303371	851	851C>T	S284L		DLO
25303374	854	854G>A	C285Y		DIM
25303382	862	862A>T	I288F		DIT-2
25303383	863	863T>C	I288T		DIT-1
25303391	871	871C>T	P291S		weak D type 138
25303392	872	872C>G	P291R		RHD(P291R) weak D type 4.3
25303394	874	874T>C	W292R		weak D type 113
25303400	880	880G>C	A294P		weak D type 9
25303401	881	881C>T	A294V		weak D type 64
25303404	884	884T>A	M295K		weak D type 135
25303404	884	884T>C	M295T		weak D type 94
25303405	885	885G>T	M295I		RHD(M295I) weak D type 11
25303410	890	890T>C	L297P		RHD(L297P)
25303415	895	895C>G	L299V		weak D type 55
25303416	896	896T>C	L299P		RHD(L299P)
25303428	908	908ins TGGCT	Ile204GlyfsTer2		RHD(909ins TGGCT, IVS6+2del TAAG)
25303435	915	915del C			RHD(915delC)
25303436	916	916G>A	V306I	X	Ccdes-1 Ccdes-2 DBT-1 DBT-2 DBU DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV type 3 DLX DV type 10 DVI type 2 DVI type 3 DVI type 3.2 RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD(V174M,V306I) RHD(V306I,Y311C) weak D type 2.2 RHD-RHCE(2-10) RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 RHD-cE(5-6)-D weak D type 66
25303439	919	919G>A	G307R		RHD(T201R,F223V,G307R) RHD(V174M,G307R) weak D type 8
25303439	919	919G>C	G307R		RHD(G307R)
25303442	922	922G>A	G308R		RHD(G308R)
25303442	922	922G>T	G308X		RHD(G308X)
25303452	932	932A>G	Y311C	X	Ccdes-1 Ccdes-2 DBT-1 DBT-2 DBU DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV type 3 DLX DV type 10 DVI type 2 DVI type 3 DVI type 3.2 RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD(V306I,Y311C) weak D type 2.2 RHD(Y311C) RHD-RHCE(2-10) RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 RHD-cE(5-6)-D
25303453	933	933C>A	Y311X		RHD(Y311X)[933A]
25303453	933	933C>G	Y311X		RHD(Y311X)[761G]
25303457	937	937C>A	P313T		RHD(P313T)
25303458	938	938C>T	P313L		weak D type 21
25303459	939	939G>A	P313P		RHD(P313P)
25303459	939	939G>C			RHD(939G>C)
IVS 6
25303460	IVS6+1	IVS6+1G>A	RHD(IVS6+1G>A)
25303461	IVS6+2	IVS6+2T>A	RHD(IVS6+2T>A)
25303461	IVS6+2	IVS6+2del TAAG	RHD(909ins TGGCT, IVS6+2del TAAG)
25303462	IVS6+3	IVS6+3A>C	RHD(9393A>C)
25306582	IVS6-14	IVS6-14del TAA	weak RHD(IVS6-14delTAA)
25306592	IVS6-4	IVS6-4A>C	RHD(IVS6-4A>C)
Exon 7
25306597	941	941G>T	G314V	X	Ccdes-1 Ccdes-2 DBT-1 DBT-2 DBU DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV type 3 DIV type 5 DIVb (J) RHCE(1-9)-RHD RHD(G314V) RHD(L110P)-CE(3-9)-D RHD(L214F)-CE(7)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE(7)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 RHD(I60L,S68N,K198N,F223V,G314V,I342T)
25306606	950	950del A			RHD(950delA)
25306608	952	952C>T	R318X		RHD(R318X)
25306609	953	953G>A	R318Q		weak D type 69
25306612	956	956T>G	V319G		RHD(V319G)
25306613	957	957G>A			DAR(CE2:V50V-S68N) DAR(T203A) DAR-E DAR2.1 weak D type 29 weak D type 4.2.1 (DAR1.1) weak D type 4.2.2 (DAR1.2)
25306616	960	960G>A	L320L		weak RHD(960G>A)
25306622	966	966T>C			RHD(I60V,S103P,F161S,L214F)
25306624	968	968C>A	P323H	X	Ccdes-1 Ccdes-2 DBO-3 DBT-1 DBT-2 DBU DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV type 3 DIV type 5 DIVb (J) RHCE(1-9)-RHD RHD(L110P)-CE(3-9)-D RHD(L214F)-CE(7)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE(7)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25306624	968	968C>T	P323L		weak D type 114
25306626	970	970del CAC			RHD(970delCAC,976delTCCATCATGGGCTACA)
25306630	974	974G>T	S325I	X	Ccdes-1 Ccdes-2 DBT-1 DBT-2 DBU DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV type 3 DIV type 5 DIVb (J) RHCE(1-9)-RHD RHD(L110P)-CE(3-9)-D RHD(L214F)-CE(7)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE(7)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25306632	976	976del 16			RHD(970delCAC,976delTCCATCATGGGCTACA)
25306635	979	979A>G	I327V	X	Ccdes-1 Ccdes-2 DBT-1 DBT-2 DBU DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV type 3 DIV type 5 DIVb (J) RHCE(1-9)-RHD RHD(L110P)-CE(3-9)-D RHD(L214F)-CE(7)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE(7)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25306639	983	983T>A	M328K		weak D type 115
25306641	985	985GG>CA	G329H	X	Ccdes-1 Ccdes-2 DBT-1 DBT-2 DBU DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV type 3 DIV type 5 DIVb (J) RHCE(1-9)-RHD RHD(L110P)-CE(3-9)-D RHD(L214F)-CE(7)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE(7)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25306644	988	988T>C	Y330H		RHD(Q41X)
25306645	989	989A>C	Y330S	X	Ccdes-1 Ccdes-2 DBT-1 DBT-2 DBU DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV type 3 DIV type 5 DIVb (J) RHCE(1-9)-RHD RHD(L110P)-CE(3-9)-D RHD(L214F)-CE(7)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE(7)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25306646	990	990C>G	Y330X		RHD(Y330X)
25306648	992	992A>T	N331I	X	Ccdes-1 Ccdes-2 DBT-1 DBT-2 DBU DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV type 3 DIV type 5 DIVb (J) RHCE(1-9)-RHD RHD(L110P)-CE(3-9)-D RHD(L214F)-CE(7)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE(7)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25306649	993	993C>G	N331K		weak D type 90
25306649	993	993del C			RHD(993delC)
25306654	998	998G>A	S333N		DAU-2 DAU-6 DAU-7
25306662	1006	1006G>C	G336R		weak D type 58
25306662	1006	1006G>T	G336C		Ccdes-1 Ccdes-2 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D
25306663	1007	1007G>A	G336D		RHD(G336D)
25306666	1010	1010T>G	L337R		RHD(L337R)
25306668	1012	1012C>G	L338V		weak D type 70
25306669	1013	1013T>C	L338P		weak D type 24
25306671	1015	1015G>A	G339R		weak D type 39
25306672	1016	1016G>A	G339E		weak D type 7
25306674	1018	1018GA>AT	E340M		weak D type 30
25306675	1019	1019A>G	E340G		RHD(E340G)
25306678	1022	1022T>A	I341N		RHD(I341N)
25306681	1025	1025T>C	I342T	X	Ccdes-1 Ccdes-2 DAR1 (weak D type 4.2.0) DAR(CE2:V50V-S68N) DAR(T203A) DAR-E DAR2.1 DBT-1 DBT-2 DBU DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV type 3 DIV type 5 DIVb (J) RHCE(1-9)-RHD RHD(L110P)-CE(3-9)-D RHD(L214F)-CE(7)-D RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) RHD-RHCE(2-10) RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE(7)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 weak D type 29 RHD(I60L,S68N,K198N,F223V,G314V,I342T) weak D type 4.2.1 (DAR1.1) weak D type 4.2.2 (DAR1.2) weak D type 4.2.3 (DAR1.3)
25306682	1026	1026C>T	I342I		RHD(1026C>T)
25306682	1026	1026ins AC			RHD(1026insAC)
25306685	1029	1029C>A	Y343X		RHD(Y343X)
25306690	1034	1034T>A	V345E		weak D type 86
25306704	1048	1048G>C	D350H	X	Ccdes-1 Ccdes-2 DBT-1 DBT-2 DBU DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV type 3 DIV type 4 DIV type 5 DIV type 1.1 DIV type 1.0 DIVb type 2 DIVb (J) RHCE(1-9)-RHD RHD(D350H) RHD(L110P)-CE(3-9)-D RHD(L214F)-CE(7)-D DIVa-like RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE(7)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25306709	1053	1053C>T		X	Ccdes-1 Ccdes-2 DBT-1 DBT-2 DBU DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV type 3 DIV type 4 DIV type 5 DIVb type 2 DIVb (J) DWN RHCE(1-9)-RHD RHD(G353W,A354N) RHD(L110P)-CE(3-9)-D RHD(L214F)-CE(7)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE(7)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25306710	1054	1054G>A	V352I		RHD(V352I)
25306712	1056	1056C>G	V352V		RHD(1056C>G)
25306713	1057	1057G>A	G353R		DNU
25306713	1057	1057GGA>TGG	G353W	X	Ccdes-1 Ccdes-2 DBT-1 DBT-2 DBU DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV type 3 DIV type 4 DIV type 5 DIVb type 2 DIVb (J) DWN RHCE(1-9)-RHD RHD(G353W,A354N) RHD(L110P)-CE(3-9)-D RHD(L214F)-CE(7)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE(7)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25306714	1058	1058G>T	G353V		RHD(G353V)
25306716	1060	1060G>A	A354T		RHD(A354T)
25306716	1060	1060GC>AA	A354N	X	Ccdes-1 Ccdes-2 DBT-1 DBT-2 DBU DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV type 3 DIV type 4 DIV type 5 DIVb type 2 DIVb (J) DWN RHCE(1-9)-RHD RHD(G353W,A354N) RHD(L110P)-CE(3-9)-D RHD(L214F)-CE(7)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-7)-RHD RHD-RHCE(4-7)-RHD1 RHD-RHCE(4-7)-RHD2 RHD-RHCE(4-8)-RHD RHD-RHCE(4-9)-RHD RHD-RHCE(7)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25306717	1061	1061C>A	A354D	X	DII
25306719	1063	1063G>A	G355S		DNB weak D type 4.5 RHD-RHCE(2)-RHD(F355S)
25306721	1065	1065C>T			RHD(1065C>T)
25306723	1067	1067dup			RHD(1067insA)
25306726	1070	1070G>A	G357D		DNAK
25306729	1073	1073T>C	M358T		DWI
IVS 7
25306729	IVS7+1	IVS7+1G>A	RHD(IVS7+1G>A)
25306730	IVS7+1	IVS7+1G>T	RHD(IVS7+1G>T)
25306731	IVS7+2	IVS7+2T>C	RHD(IVS7+2T>C)
25306881	IVS7+152	IVS7+152C>A	RHD(IVS7+152C>A,1227G>A)
25316351	IVS7-649	IVS7-649del Ex8	RHD(del Ex8)
25316789	IVS7-211	IVS7-211ins GACA	RHDpsi-OT1
25316998	IVS7-2	IVS7-2A>C	RHD(IVS7-2A>C)
Exon 8
25317006	1080	1080del CTTCCAGGTC			RHD(1080del10) RHD(520G>A,1080_1989del)
25317010	1084	1084C>T	Q362X		RHD(Q362X)
25317028	1102	1102G>A	G368R		RHD(G368R)
25317028	1102	1102G>T	G368W		RHD(G368W,D404E)
25317031	1105	1105G>A	Glu369Lys		RHD(E369K)
25317033	1107	1107A>C	E369D		weak D type 99
25317036	1110	1110C>T	L370L		RHD(L370L)
25317047	1121	1121T>A	I374N		weak D type 32
25317048	1122	1122C>T	I374I		DAU-5.1
25317058	1132	1132C>G	L378V		DOL-2
25317059	1133	1133T>C	Leu378Pro		RHD(L378P)
25317062	1136	1136C>T	T379M		DAU-13 DAU-0 DAU-0.1 DAU-1 DAU-2 DAU-3 DAU-4 DAU-5 DAU-6 DAU-7 DAU-0.2 DAU-11 DAU-9 DAU-5.1 RHD(G263L,T379M) RHD(IVS4+1G>T,1136C>T) DAU-12 RHD(M1_S2insV,T379M) RHD(M1V,T379M) DAU-8 RHD(S254L,T379M) DAU-14 DAU-10
25317067	1141	1141G>C	G381R		RHD(G381R)
25317071	1145	1145T>C	L382P		weak D type 92 weak D type 10.1
25317074	1148	1148T>C	L383P		weak D type 59
25317078	1152	1152A>C	T384T		weak D type 28
IVS 8
25317080	IVS8+1	IVS8+1G>A	RHD(IVS8+1G>A)
25317085	IVS8+6	IVS8+6T>C	RHD(IVS8+6T>C)
25321477	IVS8-412	IVS8-412del 1012	DKG
25321858	IVS8-31	IVS8-31C>T	RHD(IVS8-31C>T)
25321881	IVS8-8	IVS8-8T>A	RHD(IVS8-8T>A)
Exon 9
25321889	1154	1154G>A	G385D		RHD(G385D)
25321889	1154	1154G>C	G385A		weak D type 2.2 weak D type 2 weak D type 2.1
25321889	1154	1154G>T	G385V		RHD(G385V)
25321892	1157	1157T>A	L386X		RHD(L386X)
25321901	1166	1166del A			RHD(1166delA)
25321903	1168	1168C>G	L390V		weak D type 134
25321904	1169	1169T>C	L390P		weak D type 139
25321905	1170	1170T>C		X	DBT-2 DHAR DIV type 3 DIV type 5 DIVb type 2 DIVb (J) RHCE(1-9)-RHD RHD(I60L,N152T,T201R,F223V,G263R) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-9)-RHD RHD-RHCE(8-9)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2
25321905	1170	1170T>C	L390L		RHD(L390L) weak D type 41.0.1
25321909	1174	1174del A			RHD(1174delA)
25321910	1175	1175T>C	I392T		RHD(I392T)
25321912	1177	1177T>C	W393R		weak D type 10.1 weak D type 10.2 weak D type 10
25321914	1179	1179G>A	W393X		RHD(W393X)
25321916	1181	1181A>C	Lys394Thr		RHD(K394T)
25321919	1184	1184C>T	A395V		weak D type 82
25321922	1187	1187C>G	P396R		weak D type 91
25321925	1190	1190A>G	H397R		weak D type 156
25321928	1193	1193A>T	E398V	X	DBT-2 DHAR DIV type 3 DIV type 5 DIVb type 2 DIVb (J) RHCE(1-9)-RHD RHD(L110P)-CE(3-9)-D weak D type 41.0.1 RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-9)-RHD RHD-RHCE(8-9)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 weak D type 41
25321929	1194	1194G>C	E398D		weak D type 75
25321930	1195	1195G>A	A399T		DVI type 3.2 RHD(216dupCA,1195G>A) RHD(D35E,A399T) RHD(G263R,A399T) RHD(R114Q,A399T) weak D type 45.2 RHD(V147M,A399T) weak D type 45 weak D type 45.1
25321934	1199	1199A>C	K400T		weak D type 10.2 weak D type 81
25321934	1199	1199A>T	K400I		weak D type 126
25321935	1200	1200A>T	K400N		weak D type 127
25321938	1203	1203T>A	Y401X		RHD(Y401X)
25321942	1207	1207G>T	D403Y		weak D type 128
25321943	1208	1208A>T	D403V		weak D type 129
25321944	1209	1209del T			RHD(1209delT)
25321945	1210	1210G>C	D404H		RHD(D404H)
25321947	1212	1212C>A	D404E		RHD(G368W,D404E) weak D type 72
25321948	1213	1213C>G	Q405E		weak D type 68
25321948	1213	1213C>T	Q405X		RHD(Q405X)
25321950	1215	1215A>C	Q405H		weak D type 76
25321954	1219	1219del TTCTGG	407delFW		weak D type 60
25321956	1221	1221C>A	F407L		weak D type 46
25321957	1222	1222T>C	W408R		RHD(W408R)
25321959	1224	1224G>C	W408C		weak D type 22
25321961	1226	1226A>T	K409M		weak D type 42
25321962	1227	1227G>A			RHD(1227G>A) RHD(255G>A, 1227G>A,) RHD(IVS7+152C>A,1227G>A)
IVS 9
25321967	IVS9+5	IVS9+5G>C	RHD(IVS9+5G>C)
25324070	IVS9+2108	IVS9+2108del 19	RHDex10del type 2
25324837	IVS9+2874	IVS9+2874del 5405	RHDex10del type 1
25328896	IVS9-2	IVS9-2del 21	RHD(1228-2del21)
25328897	IVS9-1	IVS9-1G>A	RHD(IVS9-1G>A)
Exon 10
25328898	1228	1228T>G	F410V		weak D type 78
25328899	1229	1229T>C	F410S		weak D type 140
25328908	1238	1238T>G	L413W		weak D type 83
25328911	1241	1241C>T	A414V		weak D type 73
25328917	1247	1247ins G			RHD(1248insG)
25328920	1250	1250T>C	F417S		weak D type 20
25328922	1252	1252T>A	X418K		DEL RHD(X418K)
25328922	1252	1252ins T			RHD(X418L)
25328923	1253	1253A>C	X418S		RHD(X418S)
25328939	1269	1269G>C			RHD(1269G>C)
25329017	1347	1347A>G			RHD(1347A>G)
IVS 10
Exon 11 and 3' utr