RHD: Alleles by mutation in exon 4

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exon 4
Position	Substitution	Effect	Templated	Alleles
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)
25300952	493	493T>A	p.Tyr165Asn
25300953	494	494A>G	Y165C		DFL
25300955	496	496C>G	H166D		RHD(H166D)
25300956	497	497A>C	H166P		DFW
25300959	500	500T>C	p.Met167Thr
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
25300965	506	506T>C	p.Met169Thr
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)
25300970	511	511C>T	p.His171Tyr
25300972	513	513C>A	H171Q		DHQ
25300972	513	513C>T	p.His171His
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
25300980	521	521T>G	p.Val174Gly
25300981	522	522G>C	p.Val174Val
25300984	525	525C>A	F175L		RHD(F175L)
25300984	525	525C>T	p.Phe175Phe
25300985	526	526G>A	A176T		RHD(A176T)
25300991	532	532ins T	p.Tyr178LeufsTer21
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
25301000	541	541C>G	p.Leu181Val
25301000	541	541C>T	p.Leu181Leu
25301001	542	542T>C	L181P		weak D type 97 DAU-12
25301002	543	543G>C	p.Leu181Leu
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)
25301011	552	552C>T	p.Ala184Ala
25301013	554	554G>A	W185X		RHD(W185X)
25301014	555	555G>A	W185X		RHD(W185X) [c,555G>A]
25301016	557	557G>A	p.Cys186Tyr
25301019	560	560T>C	L187P		weak D type 79
25301021	562	562C>G	p.Pro188Ala
25301026	567	567G>T	K189N		RHD(K189N,S257F)
25301032	573	573A>G	p.Leu191Leu
25301033	574	574C>T	p.Pro192Ser
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
25301038	579	579G>T	p.Glu193Asp
25301038	579	579ins G	p.Thr195AsnfsTer4
25301040	581	581dupG			RHD(581insG)
25301043	584	584C>G	p.Thr195Arg
25301043	584	584C>T	T195M		RHD(T148R,T195M)
25301050	591	591ins T	p.Lys198Ter
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
25301065	606	606A>T	p.Ala202Ala
25301066	607	607A>G	T203A		DAR(T203A)
25301067	608	608C>T	p.Thr203Met
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
25301080	621	621G>T	p.Leu207Phe
25301085	626	626C>T	A209V		RHD(A209V)
25301088	629	629T>C	p.Met210Thr
25301089	630	630G>C	p.Met210Ile
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