Position | Substitution | Effect | Templated | Alleles |
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 |
25303332 | 812 | 812A>G | p.His271Arg | | |
25303335 | 815 | 815G>A | p.Ser272Asn | | |
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 |
25303349 | 829 | 829G>A | p.Gly277Arg | | |
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) |
25303354 | 834 | 834C>T | p.Gly278Gly | | |
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 |
25303369 | 849 | 849C>T | p.Thr283Thr | | |
25303371 | 851 | 851C>T | S284L | | DLO |
25303372 | 852 | 852G>A | p.Ser284Ser | | |
25303374 | 854 | 854G>A | C285Y | | DIM |
25303375 | 855 | 855T>C | p.Cys285Cys | | |
25303378 | 858 | 858C>T | p.His286His | | |
25303380 | 860 | 860T>G | p.Leu287Arg | | |
25303381 | 861 | 861G>C | p.Leu287Leu | | |
25303382 | 862 | 862A>T | I288F | | DIT-2 |
25303383 | 863 | 863T>C | I288T | | DIT-1 |
25303385 | 865 | 865C>G | p.Pro289Ala | | |
25303391 | 871 | 871C>T | P291S | | weak D type 138 |
25303392 | 872 | 872C>G | P291R | | RHD(P291R) weak D type 4.3 |
25303392 | 872 | 872C>T | p.Pro291Leu | | |
25303393 | 873 | 873G>A | p.Pro291Pro | | |
25303394 | 874 | 874T>C | W292R | | weak D type 113 |
25303400 | 880 | 880G>C | A294P | | weak D type 9 |
25303401 | 881 | 881C>G | p.Ala294Gly | | |
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 | 915C>T | p.Ser305Ser | | |
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 |
25303438 | 918 | 918C>T | p.Val306Val | | |
25303439 | 919 | 919G>A | G307R | | RHD(T201R,F223V,G307R) RHD(V174M,G307R) weak D type 8 |
25303439 | 919 | 919G>C | G307R | | RHD(G307R) |
25303440 | 920 | 920G>A | p.Gly307Glu | | |
25303442 | 922 | 922G>A | G308R | | RHD(G308R) |
25303442 | 922 | 922G>T | G308X | | RHD(G308X) |
25303444 | 924 | 924A>T | p.Gly308Gly | | |
25303452 | 932 | 932A>C | p.Tyr311Ser | | |
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>G | p.Pro313Arg | | |
25303458 | 938 | 938C>T | P313L | | weak D type 21 |
25303459 | 939 | 939G>A | P313P | | RHD(P313P) |
25303459 | 939 | 939G>C | | | RHD(939G>C) |