RHD: Alleles by mutation in exon 7

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exon 7
Position	Substitution	Effect	Templated	Alleles
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)
25306599	943	943T>G	p.Cys315Gly
25306601	945	945T>C	p.Cys315Cys
25306603	947	947G>T	p.Cys316Phe
25306604	948	948T>C	p.Cys316Cys
25306606	950	950del A			RHD(950delA)
25306607	951	951C>A	p.Asn317Lys
25306608	952	952C>A	p.Arg318Arg
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)
25306619	963	963G>A	p.Gly321Gly
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	970C>G	p.His324Asp
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
25306631	975	975C>T	p.Ser325Ser
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)
25306646	990	990C>T	p.Tyr330Tyr
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	993C>T	p.Asn331Asn
25306649	993	993del C			RHD(993delC)
25306654	998	998G>A	S333N		DAU-2 DAU-6 DAU-7
25306657	1001	1001T>C	p.Leu334Ser
25306662	1006	1006G>A	p.Gly336Ser
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
25306673	1017	1017A>G	p.Gly339Gly
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)
25306683	1027	1027T>C	p.Tyr343His
25306685	1029	1029C>A	Y343X		RHD(Y343X)
25306685	1029	1029C>T	p.Tyr343Tyr
25306688	1032	1032T>C	p.Ile344Ile
25306690	1034	1034T>A	V345E		weak D type 86
25306690	1034	1034ins TGC	p.Leu347dup
25306691	1035	1035G>A	p.Val345Val
25306696	1040	1040T>C	p.Leu347Pro
25306697	1041	1041G>A	p.Leu347Leu
25306698	1042	1042G>A	p.Val348Met
25306698	1042	1042G>T	p.Val348Leu
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>A	p.Thr351Thr
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)
25306710	1054	1054G>C	p.Val352Leu
25306712	1056	1056C>G	V352V		RHD(1056C>G)
25306712	1056	1056C>T	p.Val352Val
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
25306713	1057	1057ins T	p.Gly353TrpfsTer39
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
25306716	1060	1060del G	p.Ala354ProfsTer5
25306717	1061	1061C>A	A354D	X	DII
25306718	1062	1062C>T	p.Ala354Ala
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