| Position | Substitution | Effect | Templated | Alleles | |
| exon 1 | |||||
|---|---|---|---|---|---|
| 25272538 | -10 | -10C>T | RHD(-10C>T) | ||
| 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) | |
| 25272555 | 8 | 8C>G | S3C | weak D type 3.1 weak D type 3 | |
| 25272564 | 17 | 17C>T | P6L | weak D type 31 | |
| 25272566 | 19 | 19C>T | R7W | weak D type 18 | |
| 25272573 | 26 | 26T>A | V9D | weak D type 26 | |
| 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) | ||
| 25272588 | 41 | 41C>G | P14R | weak D type 145 | |
| 25272588 | 41 | 41C>T | P14L | weak D type 136 | |
| 25272593 | 46 | 46T>C | W16R | RHD(W16R) | |
| 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 |
| 25272599 | 52 | 52C>G | L18V | weak D type 1.1 | |
| 25272600 | 53 | 53T>C | L18P | RHD(L18P) | |
| 25272600 | 53 | 53del T | RHD(53dekT) | ||
| 25272606 | 59 | 59T>C | L20P | RHD(L20P) | |
| 25272609 | 62 | 62A>C | E21A | weak D type 101 | |
| 25272612 | 65 | 65C>A | A22E | weak D type 56 | |
| 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 | |
| 25272620 | 73 | 73A>T | I25F | weak D type 102 | |
| 25272622 | 75 | 75dupTCT | 26insL | RHD(26dupL) | |
| 25272625 | 78 | 78del C | RHD(78delC) | ||
| 25272626 | 79 | 79del CTC | RHD(79delCTC) | ||
| 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) | ||
| 25272642 | 95 | 95C>A | T32N | RHD(T32N) | |
| 25272648 | 101 | 101A>G | Y34C | RHD(Y34C) | |
| 25272652 | 105 | 105C>G | D35E | RHD(D35E,A399T) | |
| 25272660 | 113 | 113T>A | L38X | RHD(L38X) | |
| 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) | ||
| 25272677 | 130 | 130del CTC | RHD(del44L) | ||
| 25272690 | 143 | 143A>G | Y48C | RHD(Y48C) | |
| 25272693 | 146 | 146A>G | Q49R | RHD(Q49R) | |
| 25272694 | 147 | 147A>G | Q49Q | RHD(147A>G) | |
| 25272694 | 147 | 147del A | RHD(147del A) | ||