Position | Substitution | Effect | Templated | Alleles |
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 | 343C>T | p.Leu115Leu | | |
25290648 | 343 | 343del C | | | RHD(343del C) |
25290649 | 344 | 344T>C | p.Leu115Pro | | |
25290650 | 345 | 345G>T | p.Leu115Leu | | |
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 |
25290655 | 350 | 350del C | p.Met118Ter | | |
25290658 | 353 | 353T>A | M118K | | RHD(M118K,V174M) |
25290658 | 353 | 353T>C | p.Met118Thr | | |
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 | 361T>C | p.Leu121Leu | | |
25290666 | 361 | 361del 11 | | | RHCE-D(3[361del11]-10) RHD(361del11) |
25290668 | 363 | 363G>C | p.Leu121Phe | | |
25290669 | 364 | 364T>A | p.Ser122Thr | | |
25290670 | 365 | 365C>G | S122W | | weak D type 153 |
25290670 | 365 | 365C>T | S122L | | weak D type 54 |
25290671 | 366 | 366G>A | p.Ser122Ser | | |
25290672 | 367 | 367G>A | p.Val123Met | | |
25290673 | 368 | 368T>G | p.Val123Gly | | |
25290674 | 369 | 369G>A | p.Val123Val | | |
25290675 | 370 | 370C>G | p.Leu124Val | | |
25290676 | 371 | 371T>C | p.Leu124Pro | | |
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) |
25290696 | 391 | 391T>C | p.Leu131Leu | | |
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) |
25290709 | 404 | 404A>G | p.Asn135Ser | | |
25290710 | 405 | 405C>T | p.Asn135Asn | | |
25290711 | 406 | 406T>C | p.Leu136Leu | | |
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 |
25290716 | 411 | 411G>A | p.Ala137Ala | | |
25290718 | 413 | 413A>G | Q138R | | weak D type 110 |
25290720 | 415 | 415T>G | p.Leu139Val | | |
25290723 | 418 | 418G>T | p.Val140Leu | | |
25290725 | 420 | 420del G | p.Val141Ter | | |
25290726 | 421 | 421G>T | p.Val141Leu | | |
25290727 | 422 | 422T>A | p.Val141Glu | | |
25290729 | 424 | 424del ATG | 142delM | | RHD(142delM) |
25290731 | 426 | 426G>A | p.Met142Ile | | |
25290731 | 426 | 426G>C | p.Met142Ile | | |
25290736 | 431 | 431T>A | p.Leu144Gln | | |
25290736 | 431 | 431T>C | p.Leu144Pro | | |
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) |
25290746 | 441 | 441G>A | p.Val147Val | | |
25290748 | 443 | 443C>G | T148R | | RHD(T148R) RHD(T148R,T195M) |
25290750 | 445 | 445G>T | p.Ala149Ser | | |
25290751 | 446 | 446C>A | A149D | | weak D type 5 |
25290754 | 449 | 449T>C | p.Leu150Ser | | |
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 |
25290761 | 456 | 456C>G | p.Asn152Lys | | |
25290763 | 458 | 458T>C | L153P | | RHD(L153P) |
25290766 | 461 | 461G>A | p.Arg154Lys | | |
25290768 | 463 | 463A>G | M155V | | RHD(M155V) |
25290769 | 464 | 464T>G | p.Met155Arg | | |
25290775 | 470 | 470T>A | p.Ile157Asn | | |
25290776 | 471 | 471C>A | p.Ile157Ile | | |
25290787 | 482 | 482T>C | F161S | | RHD(I60V,S103P,F161S,L214F) |
25290787 | 482 | 482T>G | F161C | | RHD(F161C) |
25290790 | 485 | 485A>G | N162S | | DNS |