Position | Substitution | Effect | Templated | Alleles | |
exon 1 | |||||
---|---|---|---|---|---|
25272499 | -49 | -49G>A | |||
25272500 | -48 | -48G>A | |||
25272502 | -46 | -46G>A | |||
25272502 | -46 | -46G>T | |||
25272508 | -40 | -40C>T | |||
25272511 | -37 | -37G>A | |||
25272514 | -34 | -34G>A | |||
25272523 | -25 | -25A>G | |||
25272532 | -16 | -16C>T | |||
25272538 | -10 | -10C>T | RHD(-10C>T) | ||
25272539 | -9 | -9G>A | |||
25272544 | -4 | -4C>T | |||
25272545 | -3 | -3A>G | |||
25272546 | -2 | -2G>A | |||
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) | |
25272552 | 5 | 5G>T | p.Ser2Ile | ||
25272555 | 8 | 8C>G | S3C | weak D type 3.1 weak D type 3 | |
25272564 | 17 | 17C>T | P6L | weak D type 31 | |
25272565 | 18 | 18G>A | p.Pro6Pro | ||
25272566 | 19 | 19C>T | R7W | weak D type 18 | |
25272567 | 20 | 20G>A | p.Arg7Gln | ||
25272567 | 20 | 20G>C | p.Arg7Pro | ||
25272568 | 21 | 21G>A | p.Arg7Arg | ||
25272570 | 23 | 23C>T | p.Ser8Phe | ||
25272573 | 26 | 26T>A | V9D | weak D type 26 | |
25272574 | 27 | 27C>G | p.Val9Val | ||
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) | ||
25272577 | 30 | 30G>A | p.Arg10Arg | ||
25272578 | 31 | 31C>T | p.Arg11Cys | ||
25272584 | 37 | 37C>G | p.Leu13Val | ||
25272586 | 39 | 39G>T | p.Leu13Leu | ||
25272588 | 41 | 41C>G | P14R | weak D type 145 | |
25272588 | 41 | 41C>T | P14L | weak D type 136 | |
25272589 | 42 | 42C>T | p.Pro14Pro | ||
25272593 | 46 | 46T>C | W16R | RHD(W16R) | |
25272594 | 47 | 47G>A | p.Trp16Ter | ||
25272594 | 47 | 47del G | p.Ala17ProfsTer2 | ||
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 |
25272596 | 49 | 49G>A | p.Ala17Thr | ||
25272597 | 50 | 50C>T | p.Ala17Val | ||
25272598 | 51 | 51C>T | p.Ala17Ala | ||
25272599 | 52 | 52C>G | L18V | weak D type 1.1 | |
25272599 | 52 | 52C>T | p.Leu18Leu | ||
25272600 | 53 | 53T>C | L18P | RHD(L18P) | |
25272600 | 53 | 53del T | RHD(53dekT) | ||
25272603 | 56 | 56C>T | p.Thr19Ile | ||
25272606 | 59 | 59T>C | L20P | RHD(L20P) | |
25272607 | 60 | 60del G | p.Glu21LysfsTer18 | ||
25272609 | 62 | 62A>C | E21A | weak D type 101 | |
25272612 | 65 | 65C>A | A22E | weak D type 56 | |
25272612 | 65 | 65C>T | p.Ala22Val | ||
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 | |
25272617 | 70 | 70C>A | p.Leu24Ile | ||
25272620 | 73 | 73A>T | I25F | weak D type 102 | |
25272622 | 75 | 75dupTCT | 26insL | RHD(26dupL) | |
25272623 | 76 | 76C>T | p.Leu26Phe | ||
25272625 | 78 | 78C>T | p.Leu26Leu | ||
25272625 | 78 | 78del C | RHD(78delC) | ||
25272626 | 79 | 79del CTC | RHD(79delCTC) | ||
25272633 | 86 | 86A>G | p.Tyr29Cys | ||
25272634 | 87 | 87T>C | p.Tyr29Tyr | ||
25272634 | 87 | 87ins T | p.Thr32TyrfsTer4 | ||
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) | ||
25272641 | 94 | 94A>G | p.Thr32Ala | ||
25272642 | 95 | 95C>A | T32N | RHD(T32N) | |
25272642 | 95 | 95C>T | p.Thr32Ile | ||
25272643 | 96 | 96C>T | p.Thr32Thr | ||
25272647 | 100 | 100T>C | p.Tyr34His | ||
25272648 | 101 | 101A>G | Y34C | RHD(Y34C) | |
25272652 | 105 | 105C>G | D35E | RHD(D35E,A399T) | |
25272652 | 105 | 105C>T | p.Asp35Asp | ||
25272653 | 106 | 106G>A | p.Ala36Thr | ||
25272653 | 106 | 106G>T | p.Ala36Ser | ||
25272658 | 111 | 111C>T | p.Ser37Ser | ||
25272660 | 113 | 113T>A | L38X | RHD(L38X) | |
25272664 | 117 | 117G>A | p.Glu39Glu | ||
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) | ||
25272676 | 129 | 129G>T | p.Gly43Gly | ||
25272677 | 130 | 130del CTC | RHD(del44L) | ||
25272679 | 132 | 132C>T | p.Leu44Leu | ||
25272680 | 133 | 133G>A | p.Val45Met | ||
25272682 | 135 | 135G>A | p.Val45Val | ||
25272690 | 143 | 143A>G | Y48C | RHD(Y48C) | |
25272692 | 145 | 145C>G | p.Gln49Glu | ||
25272693 | 146 | 146A>G | Q49R | RHD(Q49R) | |
25272694 | 147 | 147A>G | Q49Q | RHD(147A>G) | |
25272694 | 147 | 147del A | RHD(147del A) |