GRCh38.p12 | Position | Substitution | Effect | Templated | Alleles |
5' region |
---|
25265487 | -7061 | -7061del 12 | | | RHD deletion |
25272330 | -218 | -218A>G | | | |
25272374 | -174 | -174G>C | | | |
25272382 | -166 | -166G>C | | | |
25272387 | -161 | -161C>T | | | |
25272433 | -115 | -115A>C | | | RHD(-115A>C) |
25272451 | -97 | -97G>A | | | |
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) |
25272696 | IVS1+1 | IVS1+1G>A | RHD(IVS1+1G>A) |
25272696 | IVS1+1 | IVS1+1G>T | RHD(IVS1+1G>T) |
25272700 | IVS1+5 | IVS1+5G>C | RHD(IVS1+5G>C) |
25272701 | IVS1+6 | IVS1+6del A | RHD(147del A) |
25272702 | IVS1+7 | IVS1+7G>A | |
25272706 | IVS1+11 | IVS1+11A>G | |
25272706 | IVS1+11 | IVS1+11A>T | |
25272707 | IVS1+12 | IVS1+12T>C | |
25272713 | IVS1+18 | IVS1+18A>C | |
25272714 | IVS1+19 | IVS1+19A>C | |
25272722 | IVS1+27 | IVS1+27C>G | |
25272734 | IVS1+39 | IVS1+39G>A | |
25272734 | IVS1+39 | IVS1+39G>T | |
25272738 | IVS1+43 | IVS1+43G>A | |
25272740 | IVS1+45 | IVS1+45G>A | |
25272740 | IVS1+45 | IVS1+45G>T | |
25272742 | IVS1+47 | IVS1+47del A | |
25272743 | IVS1+48 | IVS1+48G>A | |
25272747 | IVS1+52 | IVS1+52C>T | |
25272748 | IVS1+53 | IVS1+53del G | |
25272759 | IVS1+64 | IVS1+64G>A | |
25272769 | IVS1+74 | IVS1+74A>G | |
25284522 | IVS1-51 | IVS1-51A>G | |
25284528 | IVS1-45 | IVS1-45C>T | |
25284529 | IVS1-44 | IVS1-44G>A | |
25284536 | IVS1-37 | IVS1-37T>A | |
25284537 | IVS1-36 | IVS1-36C>T | |
25284541 | IVS1-32 | IVS1-32C>G | |
25284543 | IVS1-30 | IVS1-30C>G | |
25284543 | IVS1-30 | IVS1-30C>T | |
25284544 | IVS1-29 | IVS1-29G>A | |
25284544 | IVS1-29 | IVS1-29G>C | RHD(IVS1-29G>C) RHD(S112T) |
25284549 | IVS1-24 | IVS1-24T>C | |
25284552 | IVS1-21 | IVS1-21C>T | |
25284553 | IVS1-20 | IVS1-20G>A | |
25284554 | IVS1-19 | IVS1-19C>A | |
25284558 | IVS1-15 | IVS1-15C>T | |
25284562 | IVS1-11 | IVS1-11C>T | |
25284566 | IVS1-7 | IVS1-7C>T | |
25284567 | IVS1-6 | IVS1-6G>A | |
25284567 | IVS1-6 | IVS1-6G>C | |
25284573 | 149 | 149T>A | V50D | | RHD(V50D) |
25284574 | 150 | 150T>C | | X | DAR(CE2:V50V-S68N) DHAR DIII type 7 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIIIa150C DKK RHCE(1-3)-RHD(4-10) RHCE(1-9)-RHD DAU-0.2 DIIIb (Caucasian) RHD-RHCE(2)-RHD(F355S) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-ceAG.05(2)-D |
25284577 | 153 | 153C>T | p.Gly51Gly | | |
25284581 | 157 | 157G>T | D53Y | | RHD(D53Y) |
25284584 | 160 | 160C>T | p.Leu54Leu | | |
25284585 | 161 | 161T>C | L54P | | DMH |
25284586 | 162 | 162G>C | p.Leu54Leu | | |
25284587 | 163 | 163A>C | T55P | | weak D type 130 |
25284589 | 165 | 165C>T | | | RHD(165C>T) weak D type 68 |
25284590 | 166 | 166G>A | V56M | | RHD(V56M,W90X) |
25284590 | 166 | 166G>C | p.Val56Leu | | |
25284597 | 173 | 173C>T | A58V | | weak D type 143 |
25284598 | 174 | 174G>A | p.Ala58Ala | | |
25284599 | 175 | 175G>A | A59T | | weak D type 151 |
25284600 | 176 | 176C>A | A59D | | weak D type 121 |
25284600 | 176 | 176C>T | p.Ala59Val | | |
25284602 | 178 | 178A>C | I60L | X | DAR(CE2:V50V-S68N) DHAR DIII type 7 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DKK RHCE(1-3)-RHD(4-10) RHCE(1-9)-RHD RHD(60L,S230I) RHD(I60L) RHD(I60L,N152T,T201R,F223V,G263R) weak D type 3.1 DIIIb (Caucasian) RHD-RHCE(2)-RHD(F355S) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-ceAG.05(2)-D weak D type 29 RHD(I60L,S68N,K198N,F223V,G314V,I342T) |
25284602 | 178 | 178A>G | I60V | | RHD(I60V,S103P,F161S,L214F) |
25284603 | 179 | 179T>C | p.Ile60Thr | | |
25284606 | 182 | 182G>C | G61A | | weak D type 88 |
25284606 | 182 | 182G>T | G61V | | weak D type 48 |
25284610 | 186 | 186G>T | L62F | | Ccdes-1 D-SPM D186T DIII type 4 DIII type 4.2 DIII type 5 DIII type 9 DIIIa150C DIV(S103P) DIV-DOL DIV type 1.1 DIV type 1.0 DIVa-like |
25284611 | 187 | 187G>T | G63C | | weak D type 152 |
25284612 | 188 | 188G>T | p.Gly63Val | | |
25284616 | 192 | 192C>G | p.Phe64Leu | | |
25284620 | 196 | 196A>T | p.Thr66Ser | | |
25284624 | 200 | 200C>A | p.Ser67Ter | | |
25284624 | 200 | 200C>G | S67W | | weak D type 105 |
25284625 | 201 | 201G>A | | X | DAR(CE2:V50V-S68N) DHAR DIII type 7 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DKK RHCE(1-3)-RHD(4-10) RHCE(1-9)-RHD DAU-14 DIIIb (Caucasian) RHD-RHCE(2)-RHD(F355S) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-ceAG.05(2)-D weak D type 29 RHD(I60L,S68N,K198N,F223V,G314V,I342T) |
25284627 | 203 | 203G>A | S68N | X | DAR(CE2:V50V-S68N) DHAR DIII type 7 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DKK RHCE(1-3)-RHD(4-10) RHCE(1-9)-RHD DAU-14 DIIIb (Caucasian) RHD-RHCE(2)-RHD(F355S) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-ceAG.05(2)-D weak D type 29 RHD(I60L,S68N,K198N,F223V,G314V,I342T) |
25284627 | 203 | 203G>C | S68T | | RHD(S68T)-RHCe(3-9)-RHD weak D type 74 |
25284632 | 208 | 208C>T | R70W | | weak D type 122 weak D type 45.2 |
25284632 | 208 | 208del insTG | | | RHD(208delinsTG) |
25284633 | 209 | 209G>A | R70Q | | DAU-2 weak D type 85 |
25284637 | 213 | 213A>T | R71S | | RHD(R71S) |
25284639 | 215 | 215AC>CA | 72H>P | | RHD(H72P,S73C) |
25284639 | 215 | 215A>G | p.His72Arg | | |
25284640 | 216 | 216dupCA | | | RHD(216dupCA,1195G>A) |
25284641 | 217 | 217A>G | p.Ser73Gly | | |
25284641 | 217 | 217A>T | S73C | | RHD(H72P,S73C) |
25284644 | 220 | 220T>G | W74G | | weak D type 106 |
25284645 | 221 | 221G>A | p.Trp74Ter | | |
25284647 | 223 | 223A>G | p.Ser75Gly | | |
25284647 | 223 | 223A>T | S75C | | weak D type 107 |
25284649 | 225 | 225C>T | p.Ser75Ser | | |
25284651 | 227 | 227G>A | S76N | | weak D type 84 |
25284652 | 228 | 228T>C | p.Ser76Ser | | |
25284656 | 232 | 232G>A | p.Ala78Thr | | |
25284657 | 233 | 233C>T | p.Ala78Val | | |
25284662 | 238 | 238A>G | p.Asn80Asp | | |
25284663 | 239 | 239A>G | p.Asn80Ser | | |
25284664 | 240 | 240C>T | p.Asn80Asn | | |
25284665 | 241 | 241C>T | p.Leu81Phe | | |
25284666 | 242 | 242T>C | L81P | | RHD(L81P) |
25284675 | 251 | 251T>C | L84P | | RHD(L84P) RHD(M1I,L84P) |
25284677 | 253 | 253G>C | p.Ala85Pro | | |
25284678 | 254 | 254C>G | A85G | | weak D type 131 RHD-ceAG.05(2)-D |
25284678 | 254 | 254C>T | A85V | | DAU-11 |
25284679 | 255 | 255G>A | A85A | | RHD(255G>A, 1227G>A,) |
25284684 | 260 | 260G>A | G87D | | weak D type 35 |
25284690 | 266 | 266A>C | p.Gln89Pro | | |
25284690 | 266 | 266A>G | Q89R | | RHD(Q89R) |
25284694 | 270 | 270G>A | W90X | | RHD(V56M,W90X) RHD(W90X) |
25284694 | 270 | 270G>C | p.Trp90Cys | | |
25284700 | 276 | 276del C | p.Leu93CysfsTer6 | | |
25284701 | 277 | 277C>T | p.Leu93Leu | | |
25284702 | 278 | 278T>G | L93R | | RHD(L93R) |
25284708 | 284 | 284A>G | D95G | | RHD(D95G) |
25284709 | 285 | 285C>T | p.Asp95Asp | | |
25284710 | 286 | 286G>A | G96S | | RHD(G96S) |
25284710 | 286 | 286G>C | G96R | | RHD(G96R) |
25284711 | 287 | 287G>A | G96D | | RHD(G96D) |
25284715 | 291 | 291C>T | p.Phe97Phe | | |
25284721 | 297 | 297del 23 | | | RHD(297del23) |
25284724 | 300 | 300G>A | p.Gln100Gln | | |
25284725 | 301 | 301T>A | F101I | | weak D type 2.1 |
25284731 | 307 | 307T>C | S103P | X | DHAR DIII type 4.2 DIII type 7 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIV(S103P) DKK DVII type 2 RHCE(1-3)-RHD(4-10) RHCE(1-9)-RHD RHD(I60V,S103P,F161S,L214F) RHD(S103P) DIIIb (Caucasian) RHD-RHCE(2)-RHD(F355S) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-ceAG.05(2)-D |
25284735 | 311 | 311G>C | p.Gly104Ala | | |
25284740 | 316 | 316G>A | p.Val106Met | | |
25284746 | 322 | 322A>G | p.Ile108Val | | |
25284749 | 325 | 325A>G | p.Thr109Ala | | |
25284749 | 325 | 325del A | | | RHD(325delA) |
25284750 | 326 | 326C>T | p.Thr109Ile | | |
25284751 | 327 | 327327_487-4164dup | | | weak D type 150 |
25284752 | 328 | 328C>A | p.Leu110Met | | |
25284753 | 329 | 329T>C | L110P | | DVII DVII type 2 RHD(L110P)-CE(3-9)-D |
25284753 | 329 | 329del TG | p.Phe111GlnfsTer48 | | |
25284754 | 330 | 330G>A | p.Leu110Leu | | |
25284754 | 330 | 330del GT | | | RHD(330delGT) |
25284757 | 333 | 333C>T | p.Phe111Phe | | |
25284758 | 334 | 334A>G | S112G | | RHD(S112G) |
25284759 | 335 | 335G>C | S112T | | RHD(S112T) |
25284759 | 335 | 335G>T | S112I | | RHD(S112I) |
25284760 | IVS2+1 | IVS2+1G>A | RHD(IVS2+1G>A) |
25284767 | IVS2+8 | IVS2+8G>A | |
25284773 | IVS2+14 | IVS2+14G>A | |
25284787 | IVS2+28 | IVS2+28T>C | |
25284789 | IVS2+30 | IVS2+30G>T | |
25284795 | IVS2+36 | IVS2+36A>G | |
25284796 | IVS2+37 | IVS2+37G>C | |
25284801 | IVS2+42 | IVS2+42A>G | |
25284803 | IVS2+44 | IVS2+44T>C | |
25284807 | IVS2+48 | IVS2+48C>A | |
25284810 | IVS2+51 | IVS2+51C>G | |
25284810 | IVS2+51 | IVS2+51C>T | |
25284811 | IVS2+52 | IVS2+52G>A | |
25285408 | IVS2+649 | IVS2+649del 10625 | RHD delEx3 type 1 |
25290571 | IVS2-70 | IVS2-70G>T | |
25290581 | IVS2-60 | IVS2-60del AT | |
25290584 | IVS2-57 | IVS2-57del AA | |
25290585 | IVS2-56 | IVS2-56A>G | |
25290586 | IVS2-55 | IVS2-55del TGAG | |
25290589 | IVS2-52 | IVS2-52G>A | |
25290590 | IVS2-51 | IVS2-51T>C | |
25290593 | IVS2-48 | IVS2-48G>A | |
25290593 | IVS2-48 | IVS2-48G>C | |
25290598 | IVS2-43 | IVS2-43A>T | |
25290599 | IVS2-42 | IVS2-42T>A | |
25290602 | IVS2-39 | IVS2-39T>C | |
25290603 | IVS2-38 | IVS2-38T>C | |
25290614 | IVS2-27 | IVS2-27C>G | |
25290615 | IVS2-26 | IVS2-26G>A | |
25290615 | IVS2-26 | IVS2-26G>C | |
25290617 | IVS2-24 | IVS2-24C>T | |
25290619 | IVS2-22 | IVS2-22T>C | |
25290622 | IVS2-19 | IVS2-19C>A | |
25290622 | IVS2-19 | IVS2-19C>G | |
25290624 | IVS2-17 | IVS2-17C>G | |
25290628 | IVS2-13 | IVS2-13C>T | |
25290633 | IVS2-8 | IVS2-8T>A | |
25290634 | IVS2-7 | IVS2-7C>G | |
25290635 | IVS2-6 | IVS2-6C>T | |
25290638 | IVS2-3 | IVS2-3C>T | |
25290639 | IVS2-2 | IVS2-2A>G | RHD(IVS2-2A>G) |
25290639 | IVS2-2 | IVS2-2del A | RHD(IVS2-2delA) |
25290640 | IVS2-1 | IVS2-1G>A | RHD(IVS2-1G>A) |
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 |
25290792 | IVS3+1 | IVS3+1G>A | RHD(IVS3+1G>A) |
25290793 | IVS3+2 | IVS3+2T>A | RHD(IVS3+2T>A) |
25290794 | IVS3+3 | IVS3+3G>C | weak RHD(IVS3+3G>C) |
25290796 | IVS3+5 | IVS3+5G>A | RHD(IVS3+5G>A) |
25290797 | IVS3+6 | IVS3+6T>C | |
25290798 | IVS3+7 | IVS3+7C>A | |
25290800 | IVS3+9 | IVS3+9T>C | |
25290801 | IVS3+10 | IVS3+10G>T | |
25290806 | IVS3+15 | IVS3+15T>C | |
25290807 | IVS3+16 | IVS3+16G>T | |
25290816 | IVS3+25 | IVS3+25G>A | |
25290816 | IVS3+25 | IVS3+25G>T | |
25290817 | IVS3+26 | IVS3+26A>T | |
25290822 | IVS3+31 | IVS3+31G>A | |
25290831 | IVS3+40 | IVS3+40G>A | |
25290832 | IVS3+41 | IVS3+41G>A | |
25290835 | IVS3+44 | IVS3+44A>G | |
25290839 | IVS3+48 | IVS3+48G>A | |
25290839 | IVS3+48 | IVS3+48G>T | |
25290840 | IVS3+49 | IVS3+49C>G | |
25290842 | IVS3+51 | IVS3+51C>T | |
25290848 | IVS3+57 | IVS3+57G>T | |
25290855 | IVS3+64 | IVS3+64T>C | |
25290860 | IVS3+69 | IVS3+69A>G | |
25290862 | IVS3+71 | IVS3+71G>C | |
25300891 | IVS3-55 | IVS3-55C>T | |
25300897 | IVS3-49 | IVS3-49C>G | |
25300898 | IVS3-48 | IVS3-48C>T | |
25300899 | IVS3-47 | IVS3-47G>A | |
25300900 | IVS3-46 | IVS3-46del 13 | |
25300904 | IVS3-42 | IVS3-42G>A | |
25300907 | IVS3-39 | IVS3-39G>A | |
25300912 | IVS3-34 | IVS3-34C>T | |
25300913 | IVS3-33 | IVS3-33G>A | |
25300913 | IVS3-33 | IVS3-33G>C | |
25300916 | IVS3-30 | IVS3-30A>C | |
25300926 | IVS3-20 | IVS3-20ins CTTACTGGGTTTTATTGCAGACAGACTACCACATGAA | |
25300928 | IVS3-18 | IVS3-18T>C | |
25300939 | IVS3-7 | IVS3-7A>G | |
25300943 | IVS3-3 | IVS3-3C>G | |
25300943 | IVS3-3 | IVS3-3del CAGA | |
25300946 | 487 | 487del ACAG | | | RHD(489delAGAC) |
25300949 | 490 | 490G>A | D164N | | DDN |
25300951 | 492 | 492C>A | D164E | | RHD(D164E) |
25300951 | 492 | 492C>G | D164E | | RHD(D164E) |
25300952 | 493 | 493T>A | p.Tyr165Asn | | |
25300953 | 494 | 494A>G | Y165C | | DFL |
25300955 | 496 | 496C>G | H166D | | RHD(H166D) |
25300956 | 497 | 497A>C | H166P | | DFW |
25300959 | 500 | 500T>C | p.Met167Thr | | |
25300964 | 505 | 505A>C | M169L | X | Ccdes-1 Ccdes-2 DFR-1 DFR-2 DFR-3 DFR-4 DFR-5 DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 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-RHCE(2-10) RHD-RHCE(2-5)-RHD 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 |
25300965 | 506 | 506T>C | p.Met169Thr | | |
25300968 | 509 | 509T>C | M170T | | D-SPM DIV-DOL DOL-1 DOL-2 DOL-3 DOL-4 |
25300968 | 509 | 509T>G | M170R | X | Ccdes-1 Ccdes-2 DFR-1 DFR-2 DFR-3 DFR-4 DFR-5 DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 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-RHCE(2-10) RHD-RHCE(2-5)-RHD 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 |
25300969 | 510 | 510G>A | M170I | | DMI |
25300969 | 510 | 510G>T | M170I | | DMI-1.1 |
25300969 | 510 | 510dup | | | RHD(510insG) |
25300970 | 511 | 511C>G | H171D | | RHD(H171D) |
25300970 | 511 | 511C>T | p.His171Tyr | | |
25300972 | 513 | 513C>A | H171Q | | DHQ |
25300972 | 513 | 513C>T | p.His171His | | |
25300973 | 514 | 514A>T | I172F | X | Ccdes-1 Ccdes-2 DFR-1 DFR-2 DFR-3 DFR-5 DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 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-RHCE(2-10) RHD-RHCE(2-5)-RHD 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 |
25300978 | 519 | 519C>T | | | RHD(519C>T) |
25300979 | 520 | 520G>A | V174M | | RHD(520G>A,1080_1989del) RHD(M118K,V174M) RHD(V174M,G307R) RHD(V174M,V306I) weak D type 33 |
25300980 | 521 | 521T>G | p.Val174Gly | | |
25300981 | 522 | 522G>C | p.Val174Val | | |
25300984 | 525 | 525C>A | F175L | | RHD(F175L) |
25300984 | 525 | 525C>T | p.Phe175Phe | | |
25300985 | 526 | 526G>A | A176T | | RHD(A176T) |
25300991 | 532 | 532ins T | p.Tyr178LeufsTer21 | | |
25300994 | 535 | 535T>C | F179L | | DAU-9 |
25300995 | 536 | 536T>C | F179S | | RHD(F179S) |
25300996 | 537 | 537T>G | F179L | | RHD(F179L) |
25300997 | 538 | 538G>A | G180R | | RHD(G180R) |
25300998 | 539 | 539G>A | G180E | | weak D type 80 |
25300998 | 539 | 539G>C | G180A | | DFR-3 |
25301000 | 541 | 541C>G | p.Leu181Val | | |
25301000 | 541 | 541C>T | p.Leu181Leu | | |
25301001 | 542 | 542T>C | L181P | | weak D type 97 DAU-12 |
25301002 | 543 | 543G>C | p.Leu181Leu | | |
25301003 | 544 | 544T>A | S182F | X | RHD-RHCE(2-5)-RHD |
25301003 | 544 | 544T>A | S182T | X | Ccdes-1 Ccdes-2 DFR-2 DFR-5 DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 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-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 weak D type 14 |
25301004 | 545 | 545del CTGT | | | RHD(545delCTGT) |
25301011 | 552 | 552C>T | p.Ala184Ala | | |
25301013 | 554 | 554G>A | W185X | | RHD(W185X) |
25301014 | 555 | 555G>A | W185X | | RHD(W185X) [c,555G>A] |
25301016 | 557 | 557G>A | p.Cys186Tyr | | |
25301019 | 560 | 560T>C | L187P | | weak D type 79 |
25301021 | 562 | 562C>G | p.Pro188Ala | | |
25301026 | 567 | 567G>T | K189N | | RHD(K189N,S257F) |
25301032 | 573 | 573A>G | p.Leu191Leu | | |
25301033 | 574 | 574C>T | p.Pro192Ser | | |
25301035 | 576 | 576C>T | | | RHD(576C>T) |
25301036 | 577 | 577G>A | E193K | X | Ccdes-1 Ccdes-2 DFR-2 DFR-5 DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 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-RHCE(2-10) RHD-RHCE(2-5)-RHD 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 |
25301038 | 579 | 579G>A | | | DAU-0.1 DAU-8 DAU-10 |
25301038 | 579 | 579G>C | E193D | | weak D type 144 |
25301038 | 579 | 579G>T | p.Glu193Asp | | |
25301038 | 579 | 579ins G | p.Thr195AsnfsTer4 | | |
25301040 | 581 | 581dupG | | | RHD(581insG) |
25301043 | 584 | 584C>G | p.Thr195Arg | | |
25301043 | 584 | 584C>T | T195M | | RHD(T148R,T195M) |
25301050 | 591 | 591ins T | p.Lys198Ter | | |
25301053 | 594 | 594A>T | K198N | X | Ccdes-1 Ccdes-2 DFR-2 DFR-5 DHAR DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) weak D type 124 weak D type 4.4 RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD 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 weak D type 14 weak D type 29 RHD(I60L,S68N,K198N,F223V,G314V,I342T) weak D type 51 |
25301057 | 598 | 598C>T | Q200X | | RHD(Q200X) |
25301061 | 602 | 602C>G | T201R | X | Ccdes-1 Ccdes-2 DAR1 (weak D type 4.2.0) DAR(CE2:V50V-S68N) DAR(T203A) DAR-E DAR2.1 DFR-2 DFR-5 DHAR DIII type 5 DIII type 6 DIII type 7 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIIIa150C DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(I60L,N152T,T201R,F223V,G263R) weak D type 4.4 RHD(L110P)-CE(3-9)-D RHD(N152T,T201R,F223V) RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) RHD(T201R,F223V,G307R) weak D type 4.5 RHD(T201R,F223V,K264N,A273A) RHD(T201R,V270G) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(3)--weak D type 4.0 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 weak D type 14 weak D type 4.0 weak D type 4.0.1 weak D type 4.1 weak D type 4.2.1 (DAR1.1) weak D type 4.2.2 (DAR1.2) weak D type 4.2.3 (DAR1.3) weak D type 4.3 weak D type 40 weak D type 51 |
25301064 | 605 | 605C>T | A202V | | weak D type 43 |
25301065 | 606 | 606A>T | p.Ala202Ala | | |
25301066 | 607 | 607A>G | T203A | | DAR(T203A) |
25301067 | 608 | 608C>T | p.Thr203Met | | |
25301068 | 609 | 609G>A | | | RHD psi RHD(M218I, F223V, S225F) RHD(M218I, F223V, S225F,Y269X) RHDpsi-OT1 |
25301070 | 611 | 611T>C | I204T | | weak D type 19 |
25301074 | 615 | 615del CA | | | RHD(615delCA) |
25301080 | 621 | 621G>C | L207F | | DMA |
25301080 | 621 | 621G>T | p.Leu207Phe | | |
25301085 | 626 | 626C>T | A209V | | RHD(A209V) |
25301088 | 629 | 629T>C | p.Met210Thr | | |
25301089 | 630 | 630G>C | p.Met210Ile | | |
25301093 | 634 | 634G>A | G212S | | weak D type 111 |
25301093 | 634 | 634G>C | G212R | | RHD(G212R) |
25301093 | 634 | 634G>T | G212C | | weak D type 23 |
25301094 | IVS4+1 | IVS4+1G>A | RHD(IVS4+1G>A) |
25301094 | IVS4+1 | IVS4+1G>T | RHD(IVS4+1G>T,1136C>T) |
25301095 | IVS4+2 | IVS4+2T>A | RHD(IVS4+2T>A) |
25301098 | IVS4+5 | IVS4+5G>A | weak RHD(IVS4+5G>A) |
25301098 | IVS4+5 | IVS4+5G>T | RHD(IVS4+5G>T) |
25301104 | IVS4+11 | IVS4+11G>A | |
25301105 | IVS4+12 | IVS4+12G>A | |
25301110 | IVS4+17 | IVS4+17G>A | |
25301111 | IVS4+18 | IVS4+18T>A | |
25301119 | IVS4+26 | IVS4+26del CTC | |
25301121 | IVS4+28 | IVS4+28C>T | |
25301122 | IVS4+29 | IVS4+29C>A | |
25301122 | IVS4+29 | IVS4+29C>T | |
25301128 | IVS4+35 | IVS4+35G>A | |
25301130 | IVS4+37 | IVS4+37G>A | |
25301135 | IVS4+42 | IVS4+42G>A | |
25301136 | IVS4+43 | IVS4+43C>G | |
25301143 | IVS4+50 | IVS4+50G>C | |
25301449 | IVS4-71 | IVS4-71C>T | |
25301455 | IVS4-65 | IVS4-65C>A | |
25301470 | IVS4-50 | IVS4-50C>T | |
25301476 | IVS4-44 | IVS4-44G>A | |
25301482 | IVS4-38 | IVS4-38G>C | |
25301484 | IVS4-36 | IVS4-36G>C | |
25301485 | IVS4-35 | IVS4-35T>G | |
25301499 | IVS4-21 | IVS4-21A>G | |
25301501 | IVS4-19 | IVS4-19C>T | |
25301503 | IVS4-17 | IVS4-17C>T | |
25301518 | IVS4-2 | IVS4-2A>C | RHD(IVS4-2A>C) |
25301518 | IVS4-2 | IVS4-2A>G | RHD(IVS4-2A>G) |
25301520 | 635 | 635G>A | G212D | | weak D type 112 |
25301520 | 635 | 635G>T | G212V | | RHD(G212V) |
25301521 | 636 | 636C>A | p.Gly212Gly | | |
25301521 | 636 | 636C>T | | | DUC-1 |
25301522 | 637 | 637G>A | p.Ala213Thr | | |
25301522 | 637 | 637G>T | p.Ala213Ser | | |
25301525 | 640 | 640C>T | L214F | | RHD(I60V,S103P,F161S,L214F) RHD(L214F)-CE(7)-D weak D type 57 |
25301528 | 643 | 643T>C | F215L | | RHD(Q41X) |
25301531 | 646 | 646T>C | L216L | | RHD(Q41X) |
25301533 | 648 | 648G>C | L216F | | weak D type 154 |
25301534 | 649 | 649T>C | p.Trp217Arg | | |
25301535 | 650 | 650G>C | p.Trp217Ser | | |
25301537 | 652 | 652AT>G | | | RHD(652delA 653T>G) |
25301539 | 654 | 654G>C | M218I | | RHD psi RHD(M218I, F223V, S225F) RHD(M218I, F223V, S225F,Y269X) RHDpsi-OT1 |
25301543 | 658 | 658T>C | W220R | | weak D type 16 |
25301544 | 659 | 659G>A | p.Trp220Ter | | |
25301544 | 659 | 659del G | p.Trp220CysfsTer9 | | |
25301545 | 660 | 660del G | | | RHD(660delG) |
25301546 | 661 | 661C>A | P221T | | weak D type 62 |
25301546 | 661 | 661C>T | P221S | | weak D type 27 |
25301547 | 662 | 662C>G | P221R | | RHD(P221R) |
25301552 | 667 | 667T>G | F223V | X | Ccdes-1 Ccdes-2 D-SPM DAR1 (weak D type 4.2.0) DAR(CE2:V50V-S68N) DAR(T203A) DAR-E DAR2.1 DAU-5 DBS-0 DBS-1 DBS-2 DBT-1 DBT-2 DBU DCS-1 DFV DFV.1 DIII type 5 DIII type 6 DIII type 7 DIII type 9 DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DIIIa150C DIV-DOL DLX DOL-1 DOL-2 DOL-3 DOL-4 DTO DV type 1 DV type 10 DV type 2 DV type 6 DV type 7 DV type 8 DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHD psi RHD(A137V,N152T)-CE(4-6)-D(7-10) DAU-5.1 RHD(F223V,G278V) RHD(F223V,K267M) RHD(I60L,N152T,T201R,F223V,G263R) weak D type 4.4 RHD(L110P)-CE(3-9)-D DIVa-like RHD(M218I, F223V, S225F) RHD(M218I, F223V, S225F,Y269X) RHD(N152T,T201R,F223V) RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) RHD(T201R,F223V,G307R) weak D type 4.5 RHD(T201R,F223V,K264N,A273A) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD RHD-RHCE(3)--weak D type 4.0 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[245V](5)-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 RHDpsi-OT1 weak D type 29 RHD(I60L,S68N,K198N,F223V,G314V,I342T) weak D type 4.0 weak D type 4.0.1 weak D type 4.1 weak D type 4.2.1 (DAR1.1) weak D type 4.2.2 (DAR1.2) weak D type 4.2.3 (DAR1.3) weak D type 4.3 |
25301553 | 668 | 668T>C | F223S | | weak D type 141 |
25301554 | 669 | 669del C | p.Phe223LeufsTer6 | | |
25301555 | 670 | 670A>G | N224D | | weak D type 148 |
25301556 | 671 | 671A>C | p.Asn224Thr | | |
25301556 | 671 | 671A>G | N224S | | weak D type 125 |
25301557 | 672 | 672C>T | p.Asn224Asn | | |
25301559 | 674 | 674C>T | S225F | | D674 DTO RHD psi RHD(M218I, F223V, S225F) RHD(M218I, F223V, S225F,Y269X) RHDpsi-OT1 |
25301560 | 675 | 675T>C | p.Ser225Ser | | |
25301561 | 676 | 676G>C | A226P | X | DBS-0 DBS-1 DBS-2 DBU DCS-1 DCS-2 DVI type 1 RHD-RHcE[226P](5:676-5:733)-RHD RHD-cE(5-6)-D |
25301562 | 677 | 677C>A | A226D | | DCC |
25301565 | 680 | 680T>C | L227P | | DBA |
25301568 | 683 | 683T>A | L228Q | | RHD(L228Q) |
25301568 | 683 | 683del 16 | | | RHD(683del16) |
25301569 | 684 | 684del GAG | 229delR | | DVL-1 |
25301570 | 685 | 685del AGA | p.Arg229del | | |
25301571 | 686 | 686G>A | R229K | | DHR |
25301574 | 689 | 689G>A | S230N | | RHD(S230N) |
25301574 | 689 | 689G>T | S230I | | DAU-1 RHD(60L,S230I) RHD(S230I) |
25301576 | 691 | 691CC>TT | P231L | | RHD(P231L) |
25301581 | 696 | 696C>A | p.Ile232Ile | | |
25301581 | 696 | 696C>T | p.Ile232Ile | | |
25301582 | 697 | 697G>A | E233K | | DAU-4 DHK |
25301582 | 697 | 697G>C | E233Q | X | Ccdes-1 Ccdes-2 DAR-E DAR2.1 DAU-5 DBS-0 DBS-1 DBS-2 DBT-1 DBT-2 DBU DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DV type 1 DV type 10 DV type 2 DV type 4 DV type 6 DV type 7 DV type 8 DV type 9 DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHCE(5:697-5:744)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) DAU-5.1 RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD 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[245V](5)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 RHD-RHcE[226P](5:676-5:733)-RHD RHD-cE(5-6)-D |
25301582 | 697 | 697del G | E233Kfs*13 | | RHD(697delG) |
25301585 | 700 | 700A>T | R234W | | DYU |
25301587 | 702 | 702del G | | | RHD(702delG) |
25301589 | 704 | 704A>C | K235T | | DHO |
25301589 | 704 | 704A>G | p.Lys235Arg | | |
25301590 | 705 | 705G>T | K235N | | RHD(K235N) |
25301590 | 705 | 705del GAA | 235delK | | DVL-2 |
25301592 | 707 | 707A>G | p.Asn236Ser | | |
25301595 | 710 | 710C>A | A237D | | RHD(A237D) |
25301595 | 710 | 710C>T | A237V | | weak D type 155 |
25301595 | 710 | 710del C | p.Val238CysfsTer8 | | |
25301596 | 711 | 711C>T | p.Ala237Ala | | |
25301596 | 711 | 711del C | | | RHD(711del C) |
25301597 | 712 | 712G>A | V238M | X | Ccdes-1 Ccdes-2 DBS-0 DBS-1 DBT-1 DBT-2 DBU DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DLX DV type 10 DV type 2 DV type 6 DV type 7 DV type 8 DV type 9 DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHCE(5:697-5:744)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) weak D type 1.2 RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD 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[245V](5)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 RHD-RHcE[226P](5:676-5:733)-RHD RHD-cE(5-6)-D |
25301597 | 712 | 712G>C | V238L | | RHD(V238L,V270G) |
25301597 | 712 | 712del G | | | RHD(712delG) |
25301602 | 717 | 717C>A | p.Phe239Leu | | |
25301602 | 717 | 717C>T | p.Phe239Phe | | |
25301603 | 718 | 718A>C | N240H | | RHD(N240H) |
25301605 | 720 | 720C>T | p.Asn240Asn | | |
25301606 | 721 | 721A>C | T241P | | RHD(T241P) |
25301607 | 722 | 722C>T | T241I | | weak D type 67 |
25301608 | 723 | 723C>G | p.Thr241Thr | | |
25301612 | 727 | 727T>A | Y243N | | weak D type 50 |
25301613 | 728 | 728A>G | Y243C | | weak D type 44 |
25301614 | 729 | 729T>A | Y243X | | RHD(Y243X) |
25301615 | 730 | 730G>C | A244P | | weak D type 95 |
25301616 | 731 | 731C>T | A244V | | weak D type 96 |
25301618 | 733 | 733G>C | V245L | X | DBS-1 DBT-1 DBT-2 DBU DLX DUC-2 DV type 10 DV type 2 DV type 7 DV type 8 DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHCE(5:697-5:744)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) RHD(V245L,G263R,K267M) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD 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(5:733-5:787)-RHD RHD-RHCe(2-7)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 RHD-RHcE[226P](5:676-5:733)-RHD RHD-cE(5-6)-D |
25301619 | 734 | 734T>G | p.Val245Gly | | |
25301621 | 736 | 736G>A | p.Ala246Thr | | |
25301622 | 737 | 737C>T | p.Ala246Val | | |
25301623 | 738 | 738A>G | p.Ala246Ala | | |
25301624 | 739 | 739G>C | V247L | | RHD(V247L) DAU-10 |
25301625 | 740 | 740T>G | V247G | | weak D type 53 |
25301628 | 743 | 743G>C | p.Ser248Thr | | |
25301629 | 744 | 744C>T | | X | Ccdes-1 Ccdes-2 DAR(T203A) DAR2.1 DBS-1 DBT-1 DBT-2 DBU DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DLX DV type 10 DV type 2 DV type 7 DV type 8 DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHCE(5:697-5:744)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(I60L,N152T,T201R,F223V,G263R) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) RHD(V245L,G263R,K267M) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD 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(5:733-5:787)-RHD RHD-RHCE[245V](5)-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 RHD-ceAG.05(2)-D weak D type 29 RHD(I60L,S68N,K198N,F223V,G314V,I342T) weak D type 4.2.2 (DAR1.2) weak D type 4.2.3 (DAR1.3) |
25301630 | 745 | 745G>A | p.Val249Met | | |
25301630 | 745 | 745del 13 | | | RHD(745del13) RHD*745_757del |
25301636 | 751 | 751A>C | T251P | | weak D type 98 |
25301638 | 753 | 753A>C | p.Thr251Thr | | |
25301643 | 758 | 758T>A | I253N | | weak D type 63 |
25301643 | 758 | 758TC>AG | | | RHD(745del13) |
25301644 | 759 | 759C>G | p.Ile253Met | | |
25301646 | 761 | 761C>G | S254X | | RHD(S254X) |
25301646 | 761 | 761C>T | S254L | | RHD(S254L,T379M) |
25301648 | 763 | 763G>A | G255R | | RHD(G255R) |
25301651 | 766 | 766T>C | S256P | | weak D type 77 |
25301652 | 767 | 767C>G | S256X | | RHD(S256X) |
25301655 | 770 | 770C>T | S257F | | RHD(K189N,S257F) weak D type 49 |
25301656 | 771 | 771C>A | p.Ser257Ser | | |
25301658 | 773 | 773T>C | L258S | | RHD(L258S) |
25301659 | 774 | 774G>C | p.Leu258Phe | | |
25301661 | 776 | 776C>T | p.Ala259Val | | |
25301664 | 779 | 779A>G | H260R | | weak D type 149 |
25301665 | 780 | 780C>A | H260Q | | weak D type 137 |
25301666 | 781 | 781C>G | P261A | | RHD(P261A) |
25301668 | 783 | 783C>G | p.Pro261Pro | | |
25301670 | 785 | 785del A | | | RHD(786del A) |
25301672 | 787 | 787G>A | G263R | X | Ccdes-1 Ccdes-2 DBS-1 DBT-1 DBT-2 DBU DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DLX DV type 10 DV type 2 DV type 7 DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) weak D type 100 RHD(G263R,A399T) RHD(I60L,N152T,T201R,F223V,G263R) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) RHD(V245L,G263R,K267M) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD 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(5:733-5:787)-RHD RHD-RHCE[245V](5)-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 |
25301672 | 787 | 787GG>TT | G263L | | RHD(G263L,T379M) |
25301677 | 792 | 792G>T | K264N | | RHD(T201R,F223V,K264N,A273A) |
25301680 | 795 | 795C>A | p.Ile265Ile | | |
25301680 | 795 | 795C>G | p.Ile265Met | | |
25301681 | 796 | 796A>G | S266G | | RHD(S266G,V270G) |
25301685 | 800 | 800A>T | K267M | X | Ccdes-1 Ccdes-2 DBS-1 DBT-1 DBT-2 DBU DIIIa-ceS(1-2)-D(3)-ceS(4-7)-D DLX DV type 10 DV type 2 DVI type 1 DVI type 2 DVI type 3 DVI type 3.2 DVI type 4 RHCE(1-9)-RHD RHD(A137V,N152T)-CE(4-6)-D(7-10) RHD(F223V,K267M) RHD(K267M) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD(T201R)-CE(5)-D(I342T) RHD(V245L,G263R,K267M) RHD-RHCE(2-10) RHD-RHCE(2-5)-RHD 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[245V](5)-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 |
25301687 | IVS5+1 | IVS5+1G>A | RHD(IVS5+1G>A) |
25301689 | IVS5+3 | IVS5+3G>A | |
25301694 | IVS5+8 | IVS5+8G>C | |
25301697 | IVS5+11 | IVS5+11C>T | |
25301698 | IVS5+12 | IVS5+12G>A | |
25301704 | IVS5+18 | IVS5+18C>G | |
25301708 | IVS5+22 | IVS5+22G>A | |
25301715 | IVS5+29 | IVS5+29C>T | |
25301718 | IVS5+32 | IVS5+32G>A | |
25301722 | IVS5+36 | IVS5+36C>G | |
25301728 | IVS5+42 | IVS5+42G>C | |
25301731 | IVS5+45 | IVS5+45C>G | |
25301734 | IVS5+48 | IVS5+48G>A | |
25301737 | IVS5+51 | IVS5+51C>A | |
25303271 | IVS5-51 | IVS5-51G>T | |
25303274 | IVS5-48 | IVS5-48G>A | |
25303276 | IVS5-46 | IVS5-46del TCTC | |
25303281 | IVS5-41 | IVS5-41C>G | |
25303281 | IVS5-41 | IVS5-41del CTCT | RHD(L386X) |
25303283 | IVS5-39 | IVS5-39C>G | |
25303284 | IVS5-38 | IVS5-38del tctc | RHD(IVS5-38del tctc) |
25303288 | IVS5-34 | IVS5-34T>C | |
25303291 | IVS5-31 | IVS5-31C>T | |
25303293 | IVS5-29 | IVS5-29T>G | |
25303306 | IVS5-16 | IVS5-16C>T | |
25303307 | IVS5-15 | IVS5-15G>A | |
25303308 | IVS5-14 | IVS5-14C>T | |
25303314 | IVS5-8 | IVS5-8C>A | |
25303316 | IVS5-6 | IVS5-6T>C | |
25303319 | IVS5-3 | IVS5-3C>T | |
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) |
25303460 | IVS6+1 | IVS6+1G>A | RHD(IVS6+1G>A) |
25303461 | IVS6+2 | IVS6+2T>A | RHD(IVS6+2T>A) |
25303461 | IVS6+2 | IVS6+2del TAAG | RHD(909ins TGGCT, IVS6+2del TAAG) |
25303462 | IVS6+3 | IVS6+3A>C | RHD(9393A>C) |
25303464 | IVS6+5 | IVS6+5G>C | |
25303473 | IVS6+14 | IVS6+14C>A | |
25303477 | IVS6+18 | IVS6+18T>C | |
25303479 | IVS6+20 | IVS6+20A>T | |
25303480 | IVS6+21 | IVS6+21C>A | |
25303480 | IVS6+21 | IVS6+21C>G | |
25303480 | IVS6+21 | IVS6+21ins T | |
25303483 | IVS6+24 | IVS6+24del C | |
25303484 | IVS6+25 | IVS6+25C>T | |
25303487 | IVS6+28 | IVS6+28T>G | |
25303489 | IVS6+30 | IVS6+30C>G | |
25303490 | IVS6+31 | IVS6+31T>A | |
25303491 | IVS6+32 | IVS6+32T>G | |
25303501 | IVS6+42 | IVS6+42G>A | |
25303501 | IVS6+42 | IVS6+42G>C | |
25303502 | IVS6+43 | IVS6+43C>A | |
25303505 | IVS6+46 | IVS6+46G>A | |
25303511 | IVS6+52 | IVS6+52C>T | |
25303512 | IVS6+53 | IVS6+53G>A | |
25303524 | IVS6+65 | IVS6+65T>G | |
25306529 | IVS6-67 | IVS6-67G>A | |
25306545 | IVS6-51 | IVS6-51G>A | |
25306547 | IVS6-49 | IVS6-49G>A | |
25306548 | IVS6-48 | IVS6-48A>T | |
25306553 | IVS6-43 | IVS6-43G>A | |
25306557 | IVS6-39 | IVS6-39C>T | |
25306564 | IVS6-32 | IVS6-32G>A | |
25306565 | IVS6-31 | IVS6-31del C | |
25306567 | IVS6-29 | IVS6-29A>C | |
25306572 | IVS6-24 | IVS6-24ins AATAACAA | |
25306579 | IVS6-17 | IVS6-17A>G | |
25306580 | IVS6-16 | IVS6-16T>C | |
25306582 | IVS6-14 | IVS6-14del TAA | weak RHD(IVS6-14delTAA) |
25306585 | IVS6-11 | IVS6-11C>T | |
25306588 | IVS6-8 | IVS6-8G>A | |
25306592 | IVS6-4 | IVS6-4A>C | RHD(IVS6-4A>C) |
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 |
25306729 | IVS7+1 | IVS7+1G>A | RHD(IVS7+1G>A) |
25306730 | IVS7+1 | IVS7+1G>T | RHD(IVS7+1G>T) |
25306731 | IVS7+2 | IVS7+2T>C | RHD(IVS7+2T>C) |
25306732 | IVS7+3 | IVS7+3G>A | |
25306747 | IVS7+18 | IVS7+18C>G | |
25306747 | IVS7+18 | IVS7+18C>T | |
25306747 | IVS7+18 | IVS7+18del C | |
25306747 | IVS7+18 | IVS7+18ins C | |
25306748 | IVS7+19 | IVS7+19C>T | |
25306752 | IVS7+23 | IVS7+23C>T | |
25306761 | IVS7+32 | IVS7+32del A | |
25306769 | IVS7+40 | IVS7+40C>T | |
25306779 | IVS7+50 | IVS7+50A>T | |
25306789 | IVS7+60 | IVS7+60G>A | |
25306801 | IVS7+72 | IVS7+72C>A | |
25306803 | IVS7+74 | IVS7+74T>G | |
25306807 | IVS7+78 | IVS7+78T>C | |
25306812 | IVS7+83 | IVS7+83C>T | |
25306813 | IVS7+84 | IVS7+84G>A | |
25306818 | IVS7+89 | IVS7+89C>T | |
25306822 | IVS7+93 | IVS7+93C>T | |
25306823 | IVS7+94 | IVS7+94G>A | |
25306823 | IVS7+94 | IVS7+94del G | |
25306826 | IVS7+97 | IVS7+97G>C | |
25306827 | IVS7+98 | IVS7+98C>G | |
25306834 | IVS7+105 | IVS7+105C>G | |
25306834 | IVS7+105 | IVS7+105C>T | |
25306846 | IVS7+117 | IVS7+117C>T | |
25306847 | IVS7+118 | IVS7+118G>A | |
25306848 | IVS7+119 | IVS7+119G>C | |
25306853 | IVS7+124 | IVS7+124T>C | |
25306873 | IVS7+144 | IVS7+144C>T | |
25306881 | IVS7+152 | IVS7+152C>A | RHD(IVS7+152C>A,1227G>A) |
25306897 | IVS7+168 | IVS7+168T>G | |
25306913 | IVS7+184 | IVS7+184C>A | |
25306918 | IVS7+189 | IVS7+189C>T | |
25306926 | IVS7+197 | IVS7+197C>T | |
25306937 | IVS7+208 | IVS7+208C>G | |
25306945 | IVS7+216 | IVS7+216G>A | |
25306970 | IVS7+241 | IVS7+241C>G | |
25306971 | IVS7+242 | IVS7+242G>A | |
25306972 | IVS7+243 | IVS7+243A>G | |
25306979 | IVS7+250 | IVS7+250T>C | |
25306985 | IVS7+256 | IVS7+256T>C | |
25306998 | IVS7+269 | IVS7+269G>A | |
25307003 | IVS7+274 | IVS7+274G>C | |
25307582 | IVS7+853 | IVS7+853C>T | |
25307586 | IVS7+857 | IVS7+857C>T | |
25307604 | IVS7+875 | IVS7+875C>G | |
25307606 | IVS7+877 | IVS7+877G>C | |
25307620 | IVS7+891 | IVS7+891A>G | |
25307621 | IVS7+892 | IVS7+892G>A | |
25307622 | IVS7+893 | IVS7+893A>G | |
25307636 | IVS7+907 | IVS7+907A>T | |
25307638 | IVS7+909 | IVS7+909C>G | |
25307645 | IVS7+916 | IVS7+916A>G | |
25307652 | IVS7+923 | IVS7+923T>C | |
25307654 | IVS7+925 | IVS7+925G>A | |
25307654 | IVS7+925 | IVS7+925G>C | |
25307657 | IVS7+928 | IVS7+928T>G | |
25307662 | IVS7+933 | IVS7+933C>G | |
25307669 | IVS7+940 | IVS7+940G>A | |
25307675 | IVS7+946 | IVS7+946A>C | |
25307678 | IVS7+949 | IVS7+949G>T | |
25307687 | IVS7+958 | IVS7+958G>T | |
25307688 | IVS7+959 | IVS7+959G>C | |
25307695 | IVS7+966 | IVS7+966G>A | |
25307696 | IVS7+967 | IVS7+967G>A | |
25307697 | IVS7+968 | IVS7+968A>G | |
25307699 | IVS7+970 | IVS7+970C>A | |
25307701 | IVS7+972 | IVS7+972G>A | |
25307705 | IVS7+976 | IVS7+976C>A | |
25307705 | IVS7+976 | IVS7+976C>T | |
25307706 | IVS7+977 | IVS7+977G>A | |
25307706 | IVS7+977 | IVS7+977G>C | |
25307709 | IVS7+980 | IVS7+980T>C | |
25307713 | IVS7+984 | IVS7+984C>T | |
25307714 | IVS7+985 | IVS7+985G>A | |
25307714 | IVS7+985 | IVS7+985G>C | |
25307715 | IVS7+986 | IVS7+986T>C | |
25307716 | IVS7+987 | IVS7+987G>A | |
25307731 | IVS7+1002 | IVS7+1002T>C | |
25307732 | IVS7+1003 | IVS7+1003del G | |
25307737 | IVS7+1008 | IVS7+1008C>T | |
25307738 | IVS7+1009 | IVS7+1009G>A | |
25307738 | IVS7+1009 | IVS7+1009G>C | |
25307742 | IVS7+1013 | IVS7+1013C>G | |
25307742 | IVS7+1013 | IVS7+1013C>T | |
25307743 | IVS7+1014 | IVS7+1014G>A | |
25307747 | IVS7+1018 | IVS7+1018C>T | |
25307750 | IVS7+1021 | IVS7+1021A>T | |
25307751 | IVS7+1022 | IVS7+1022C>T | |
25307752 | IVS7+1023 | IVS7+1023C>T | |
25307753 | IVS7+1024 | IVS7+1024G>C | |
25307753 | IVS7+1024 | IVS7+1024G>T | |
25307759 | IVS7+1030 | IVS7+1030T>G | |
25307761 | IVS7+1032 | IVS7+1032G>T | |
25307772 | IVS7+1043 | IVS7+1043C>T | |
25307774 | IVS7+1045 | IVS7+1045G>A | |
25307775 | IVS7+1046 | IVS7+1046A>G | |
25307778 | IVS7+1049 | IVS7+1049C>A | |
25307786 | IVS7+1057 | IVS7+1057G>A | |
25307792 | IVS7+1063 | IVS7+1063A>G | |
25307819 | IVS7+1090 | IVS7+1090G>A | |
25307825 | IVS7+1096 | IVS7+1096T>C | |
25307828 | IVS7+1099 | IVS7+1099T>C | |
25307842 | IVS7+1113 | IVS7+1113G>A | |
25307847 | IVS7+1118 | IVS7+1118G>A | |
25307853 | IVS7+1124 | IVS7+1124C>T | |
25307855 | IVS7+1126 | IVS7+1126G>C | |
25316351 | IVS7-649 | IVS7-649del Ex8 | RHD(del Ex8) |
25316789 | IVS7-211 | IVS7-211ins GACA | RHDpsi-OT1 |
25316931 | IVS7-69 | IVS7-69ins TTTT | |
25316951 | IVS7-49 | IVS7-49C>T | |
25316955 | IVS7-45 | IVS7-45T>G | |
25316998 | IVS7-2 | IVS7-2A>C | RHD(IVS7-2A>C) |
25317006 | 1080 | 1080del CTTCCAGGTC | | | RHD(1080del10) RHD(520G>A,1080_1989del) |
25317010 | 1084 | 1084C>T | Q362X | | RHD(Q362X) |
25317028 | 1102 | 1102G>A | G368R | | RHD(G368R) |
25317028 | 1102 | 1102G>T | G368W | | RHD(G368W,D404E) |
25317031 | 1105 | 1105G>A | Glu369Lys | | RHD(E369K) |
25317033 | 1107 | 1107A>C | E369D | | weak D type 99 |
25317036 | 1110 | 1110C>T | L370L | | RHD(L370L) |
25317047 | 1121 | 1121T>A | I374N | | weak D type 32 |
25317048 | 1122 | 1122C>T | I374I | | DAU-5.1 |
25317058 | 1132 | 1132C>G | L378V | | DOL-2 |
25317059 | 1133 | 1133T>C | Leu378Pro | | RHD(L378P) |
25317059 | 1133 | 1133del T | p.Leu378ProfsTer6 | | |
25317062 | 1136 | 1136T>C | p.Met379Thr | | |
25317062 | 1136 | 1136C>T | T379M | | DAU-13 DAU-0 DAU-0.1 DAU-1 DAU-2 DAU-3 DAU-4 DAU-5 DAU-6 DAU-7 DAU-0.2 DAU-11 DAU-9 DAU-5.1 RHD(G263L,T379M) RHD(IVS4+1G>T,1136C>T) DAU-12 RHD(M1_S2insV,T379M) RHD(M1V,T379M) DAU-8 RHD(S254L,T379M) DAU-14 DAU-10 |
25317067 | 1141 | 1141G>C | G381R | | RHD(G381R) |
25317071 | 1145 | 1145T>C | L382P | | weak D type 92 weak D type 10.1 |
25317074 | 1148 | 1148T>C | L383P | | weak D type 59 |
25317078 | 1152 | 1152A>C | T384T | | weak D type 28 |
25317080 | IVS8+1 | IVS8+1G>A | RHD(IVS8+1G>A) |
25317085 | IVS8+6 | IVS8+6T>C | RHD(IVS8+6T>C) |
25317088 | IVS8+9 | IVS8+9G>A | |
25317093 | IVS8+14 | IVS8+14C>T | |
25317104 | IVS8+25 | IVS8+25C>T | |
25317115 | IVS8+36 | IVS8+36G>A | |
25317130 | IVS8+51 | IVS8+51G>A | |
25321477 | IVS8-412 | IVS8-412del 1012 | DKG |
25321823 | IVS8-66 | IVS8-66G>C | |
25321849 | IVS8-40 | IVS8-40T>C | |
25321858 | IVS8-31 | IVS8-31T>A | |
25321858 | IVS8-31 | IVS8-31T>C | |
25321858 | IVS8-31 | IVS8-31C>T | RHD(IVS8-31C>T) |
25321859 | IVS8-30 | IVS8-30C>A | |
25321866 | IVS8-23 | IVS8-23C>T | |
25321875 | IVS8-14 | IVS8-14A>G | |
25321876 | IVS8-13 | IVS8-13T>C | |
25321881 | IVS8-8 | IVS8-8T>A | RHD(IVS8-8T>A) |
25321885 | IVS8-4 | IVS8-4A>T | |
25321886 | IVS8-3 | IVS8-3C>T | |
25321889 | 1154 | 1154G>A | G385D | | RHD(G385D) |
25321889 | 1154 | 1154G>C | G385A | | weak D type 2.2 weak D type 2 weak D type 2.1 |
25321889 | 1154 | 1154G>T | G385V | | RHD(G385V) |
25321892 | 1157 | 1157T>A | L386X | | RHD(L386X) |
25321893 | 1158 | 1158G>T | p.Leu386Phe | | |
25321899 | 1164 | 1164A>T | p.Leu388Leu | | |
25321900 | 1165 | 1165A>G | p.Asn389Asp | | |
25321901 | 1166 | 1166A>G | p.Asn389Ser | | |
25321901 | 1166 | 1166del A | | | RHD(1166delA) |
25321903 | 1168 | 1168C>G | L390V | | weak D type 134 |
25321904 | 1169 | 1169T>C | L390P | | weak D type 139 |
25321905 | 1170 | 1170T>C | | X | DBT-2 DHAR DIV type 3 DIV type 5 DIVb type 2 DIVb (J) RHCE(1-9)-RHD RHD(I60L,N152T,T201R,F223V,G263R) RHD(L110P)-CE(3-9)-D RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-9)-RHD RHD-RHCE(8-9)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 |
25321905 | 1170 | 1170T>C | L390L | | RHD(L390L) weak D type 41.0.1 |
25321909 | 1174 | 1174del A | | | RHD(1174delA) |
25321910 | 1175 | 1175T>A | p.Ile392Lys | | |
25321910 | 1175 | 1175T>C | I392T | | RHD(I392T) |
25321912 | 1177 | 1177T>C | W393R | | weak D type 10.1 weak D type 10.2 weak D type 10 |
25321914 | 1179 | 1179G>A | W393X | | RHD(W393X) |
25321916 | 1181 | 1181A>C | Lys394Thr | | RHD(K394T) |
25321919 | 1184 | 1184C>T | A395V | | weak D type 82 |
25321921 | 1186 | 1186C>T | p.Pro396Ser | | |
25321922 | 1187 | 1187C>G | P396R | | weak D type 91 |
25321923 | 1188 | 1188T>G | p.Pro396Pro | | |
25321924 | 1189 | 1189C>A | p.His397Asn | | |
25321925 | 1190 | 1190A>G | H397R | | weak D type 156 |
25321928 | 1193 | 1193A>T | E398V | X | DBT-2 DHAR DIV type 3 DIV type 5 DIVb type 2 DIVb (J) RHCE(1-9)-RHD RHD(L110P)-CE(3-9)-D weak D type 41.0.1 RHD(S68T)-RHCe(3-9)-RHD RHD-RHCE(2-10) RHD-RHCE(4-9)-RHD RHD-RHCE(8-9)-RHD RHD-RHCe(2-9)-RHD RHD-RHCe(2-9)-RHD1 RHD-RHCe(2-9)-RHD2 weak D type 41 |
25321929 | 1194 | 1194G>C | E398D | | weak D type 75 |
25321930 | 1195 | 1195G>A | A399T | | DVI type 3.2 RHD(216dupCA,1195G>A) RHD(D35E,A399T) RHD(G263R,A399T) RHD(R114Q,A399T) weak D type 45.2 RHD(V147M,A399T) weak D type 45 weak D type 45.1 |
25321933 | 1198 | 1198A>C | p.Lys400Gln | | |
25321934 | 1199 | 1199A>C | K400T | | weak D type 10.2 weak D type 81 |
25321934 | 1199 | 1199A>T | K400I | | weak D type 126 |
25321935 | 1200 | 1200A>T | K400N | | weak D type 127 |
25321938 | 1203 | 1203T>A | Y401X | | RHD(Y401X) |
25321942 | 1207 | 1207G>T | D403Y | | weak D type 128 |
25321943 | 1208 | 1208A>T | D403V | | weak D type 129 |
25321944 | 1209 | 1209del T | | | RHD(1209delT) |
25321945 | 1210 | 1210G>C | D404H | | RHD(D404H) |
25321947 | 1212 | 1212C>A | D404E | | RHD(G368W,D404E) weak D type 72 |
25321948 | 1213 | 1213C>G | Q405E | | weak D type 68 |
25321948 | 1213 | 1213C>T | Q405X | | RHD(Q405X) |
25321950 | 1215 | 1215A>C | Q405H | | weak D type 76 |
25321950 | 1215 | 1215A>G | p.Gln405Gln | | |
25321954 | 1219 | 1219del TTCTGG | 407delFW | | weak D type 60 |
25321956 | 1221 | 1221C>A | F407L | | weak D type 46 |
25321957 | 1222 | 1222T>C | W408R | | RHD(W408R) |
25321959 | 1224 | 1224G>C | W408C | | weak D type 22 |
25321961 | 1226 | 1226A>T | K409M | | weak D type 42 |
25321962 | 1227 | 1227G>A | | | RHD(1227G>A) RHD(255G>A, 1227G>A,) RHD(IVS7+152C>A,1227G>A) |
25321967 | IVS9+5 | IVS9+5G>C | RHD(IVS9+5G>C) |
25321969 | IVS9+7 | IVS9+7T>A | |
25321974 | IVS9+12 | IVS9+12C>T | |
25321976 | IVS9+14 | IVS9+14C>T | |
25321979 | IVS9+17 | IVS9+17A>G | |
25321980 | IVS9+18 | IVS9+18T>C | |
25321985 | IVS9+23 | IVS9+23G>A | |
25321989 | IVS9+27 | IVS9+27T>C | |
25321992 | IVS9+30 | IVS9+30A>G | |
25322001 | IVS9+39 | IVS9+39G>A | |
25322002 | IVS9+40 | IVS9+40C>A | |
25322003 | IVS9+41 | IVS9+41A>G | |
25322017 | IVS9+55 | IVS9+55A>G | |
25322024 | IVS9+62 | IVS9+62A>G | |
25324070 | IVS9+2108 | IVS9+2108del 19 | RHDex10del type 2 |
25324837 | IVS9+2874 | IVS9+2874del 5405 | RHDex10del type 1 |
25328851 | IVS9-47 | IVS9-47ins AGT | |
25328858 | IVS9-40 | IVS9-40G>A | |
25328868 | IVS9-30 | IVS9-30G>A | |
25328868 | IVS9-30 | IVS9-30G>T | |
25328876 | IVS9-22 | IVS9-22A>G | |
25328878 | IVS9-20 | IVS9-20del TGTT | |
25328879 | IVS9-19 | IVS9-19del G | |
25328880 | IVS9-18 | IVS9-18T>C | |
25328886 | IVS9-12 | IVS9-12T>G | |
25328896 | IVS9-2 | IVS9-2del 21 | RHD(1228-2del21) |
25328897 | IVS9-1 | IVS9-1G>A | RHD(IVS9-1G>A) |
25328898 | 1228 | 1228T>G | F410V | | weak D type 78 |
25328899 | 1229 | 1229T>C | F410S | | weak D type 140 |
25328908 | 1238 | 1238T>G | L413W | | weak D type 83 |
25328910 | 1302 | 1302G>T | p.Ala414Ser | | |
25328911 | 1241 | 1241C>T | A414V | | weak D type 73 |
25328914 | 1306 | 1306T>C | p.Val415Ala | | |
25328917 | 1247 | 1247ins G | | | RHD(1248insG) |
25328920 | 1250 | 1250T>C | F417S | | weak D type 20 |
25328922 | 1252 | 1252T>A | X418K | | DEL RHD(X418K) |
25328922 | 1252 | 1252ins T | | | RHD(X418L) |
25328923 | 1253 | 1253A>C | X418S | | RHD(X418S) |
25328932 | 1324 | 1324C>T | p.His370Tyr | | |
25328936 | 1328 | 1328C>T | p.Gln428Ter | | |
25328937 | 1329 | 1329A>C | p.Gln428Pro | | |
25328939 | 1269 | 1269G>C | | | RHD(1269G>C) |
25328949 | 1341 | 1341G>A | p.Gly432Asp | | |
25328949 | 1341 | 1341G>C | p.Gly432Ala | | |
25328950 | 1342 | 1342C>T | p.Pro376Ser | | |
25328960 | 1352 | 1352A>C | p.Asn436His | | |
25328966 | 1358 | 1358A>G | p.Thr438Ala | | |
25328976 | 1368 | 1368C>T | p.Ser441Phe | | |
25328977 | 1369 | 1369T>C | p.Ser385Pro | | |
25328998 | 1390 | 1390C>T | p.Arg392Cys | | |
25328999 | 1391 | 1391G>A | p.Val449Met | | |
25328999 | 1391 | 1391G>C | p.Val449Leu | | |
25329006 | 1398 | 1398A>G | p.Asn451Ser | | |
25329007 | 1399 | 1399C>T | p.Arg395Cys | | |
25329011 | 1403 | 1403C>T | p.His453Tyr | | |
25329015 | 1407 | 1407A>G | p.Ter397TrpextTer18 | | |
25329017 | 1347 | 1347A>G | | | RHD(1347A>G) |
25329020 | 1412 | 1412del AA | p.Lys456SerfsTer16 | | |
25329024 | 1416 | 1416T>A | p.Val457Asp | | |
25329029 | 1421 | 1421A>G | p.Asn459Asp | | |
25329030 | 1422 | 1422A>G | p.Asn459Ser | | |
25329035 | 1427 | 1427C>T | p.Arg461Cys | | |
25329036 | 1428 | 1428G>A | p.Arg461His | | |
25329036 | 1428 | 1428G>C | p.Arg461Pro | | |
25329037 | 1429 | 1429C>T | p.Arg461Arg | | |
25329038 | 1430 | 1430G>A | p.Ala462Thr | | |
25329039 | 1431 | 1431C>T | p.Ala462Val | | |
25329045 | 1437 | 1437C>T | p.Thr464Ile | | |
25329047 | 1439 | 1439G>A | p.Gly465Arg | | |
25329054 | 1446 | 1446G>C | p.Arg467Thr | | |
25329056 | 1448 | 1448G>A | p.Glu468Lys | | |
25329056 | 1448 | 1448G>T | p.Glu468Ter | | |
25329059 | 1451 | 1451A>G | p.Asn469Asp | | |
25329066 | 1458 | 1458T>A | p.Val471Asp | | |
25329072 | 1464 | 1464C>T | p.Ser473Phe | | |
25329077 | 1469 | 1469C>T | p.Leu475Phe | | |
25329079 | 1471 | 1471C>T | p.Leu475Leu | | |
25329085 | 1477 | 1477C>A | p.His477Gln | | |
25329087 | 1479 | 1479C>T | p.Ser478Phe | | |
25329097 | 1489 | 1489A>C | p.Arg481Ser | | |
25329098 | 1490 | 1490A>C | p.Ile482Leu | | |
25329102 | 1494 | 1494C>T | p.Ser483Leu | | |
25329104 | 1496 | 1496del 12 | p.Pro484_Met487del | | |
25329106 | 1498 | 1498A>C | p.Pro484Pro | | |
25329111 | 1503 | 1503T>C | p.Ile486Thr | | |
25329113 | 1505 | 1505A>T | p.Met487Leu | | |
25329114 | 1506 | 1506T>C | p.Met487Thr | | |
25329120 | 1512 | 1512G>T | p.Cys489Phe | | |
25329129 | 1521 | 1521A>C | p.Gln492Pro | | |
25329130 | 1522 | 1522A>G | p.Gln492Gln | | |
25329132 | 1524 | 1524A>T | p.Gln493Leu | | |
25329139 | 1531 | 1531T>C | | | |
25329145 | 1537 | 1537C>T | | | |
25329146 | 1538 | 1538A>G | | | |
25329147 | 1539 | 1539T>C | | | |
25329150 | 1542 | 1542A>G | | | |
25329152 | 1544 | 1544C>T | | | |
25329156 | 1548 | 1548T>C | | | |
25329157 | 1549 | 1549del AAC | | | |
25329161 | 1553 | 1553A>T | | | |
25329163 | 1555 | 1555A>C | | | |
25329170 | 1562 | 1562T>C | | | |
25329172 | 1564 | 1564A>C | | | |
25329176 | 1568 | 1568A>G | | | |
25329183 | 1575 | 1575G>C | | | |
25329204 | 1596 | 1596C>T | | | |
25329206 | 1598 | 1598G>A | | | |
25329220 | 1612 | 1612A>C | | | |
25329235 | 1627 | 1627del TTGTTTTT | | | |
25329235 | 1627 | 1627ins TTTTTTT | | | |
25329235 | 1627 | 1627ins TTTTTTTTTTTTTTTTTTTTT | | | |
25329236 | 1628 | 1628T>C | | | |
25329236 | 1628 | 1628del TG | | | |
25329247 | 1639 | 1639ins C | | | |
25329254 | 1646 | 1646T>C | | | |
25329293 | 1685 | 1685A>G | | | |
25329294 | 1686 | 1686G>A | | | |
25329331 | 1723 | 1723A>G | | | |
25329369 | 1761 | 1761A>G | | | |
25329381 | 1773 | 1773ins A | | | |
25329392 | 1784 | 1784C>T | | | |
25329392 | 1784 | 1784del CCA | | | |
25329393 | 1785 | 1785C>T | | | |
25329395 | 1787 | 1787C>A | | | |
25329395 | 1787 | 1787C>G | | | |
25329398 | 1790 | 1790C>T | | | |
25329414 | 1806 | 1806T>G | | | |
25329432 | 1824 | 1824G>A | | | |
25329435 | 1827 | 1827G>T | | | |
25329472 | 1864 | 1864A>G | | | |
25329489 | 1881 | 1881C>T | | | |
25329494 | 1886 | 1886C>T | | | |
25329551 | 1943 | 1943del TTT | | | |
25329556 | 1948 | 1948T>A | | | |
25329560 | 1952 | 1952A>G | | | |
25329562 | 1954 | 1954A>G | | | |
25329562 | 1954 | 1954A>T | | | |
25329563 | 1955 | 1955ins T | | | |
25329572 | 1964 | 1964G>A | | | |
25329583 | 1975 | 1975C>G | | | |
25329606 | 1998 | 1998T>C | | | |
25329613 | 2005 | 2005C>T | | | |
25329618 | 2010 | 2010A>C | | | |
25329634 | 2026 | 2026T>C | | | |
25329641 | 2033 | 2033A>G | | | |
25329649 | 2041 | 2041C>T | | | |
25329651 | 2043 | 2043G>A | | | |
25329676 | 2068 | 2068A>T | | | |
25329677 | 2069 | 2069C>T | | | |
25329678 | 2070 | 2070G>A | | | |
25329681 | 2073 | 2073G>A | | | |
25329686 | 2078 | 2078A>T | | | |
25329728 | 2120 | 2120A>G | | | |
25329730 | 2122 | 2122T>C | | | |
25329739 | 2131 | 2131C>T | | | |
25329740 | 2132 | 2132G>A | | | |
25329750 | 2142 | 2142T>G | | | |
25329772 | 2164 | 2164G>C | | | |
25329779 | 2171 | 2171G>A | | | |
25329782 | 2174 | 2174T>C | | | |
25329789 | 2181 | 2181A>G | | | |
25329793 | 2185 | 2185A>G | | | |
25329800 | 2192 | 2192C>T | | | |
25329807 | 2199 | 2199C>T | | | |
25329825 | 2217 | 2217T>C | | | |
25329826 | 2218 | 2218G>A | | | |
25329830 | 2222 | 2222T>C | | | |
25329839 | 2231 | 2231A>T | | | |
25329852 | 2244 | 2244A>G | | | |
25329867 | 2259 | 2259G>C | | | |
25329887 | 2279 | 2279C>A | | | |
25329906 | 2298 | 2298C>G | | | |
25329945 | 2337 | 2337G>A | | | |
25329983 | 2375 | 2375T>C | | | |
25330005 | 2397 | 2397T>G | | | |
25330012 | 2404 | 2404G>A | | | |
25330013 | 2405 | 2405T>G | | | |
25330041 | 2433 | 2433T>G | | | |
25330055 | 2447 | 2447G>A | | | |
25330066 | 2458 | 2458C>T | | | |
25330079 | 2471 | 2471C>T | | | |
25330096 | 2488 | 2488T>C | | | |
25330110 | 2502 | 2502ins TCTGA | | | |
25330116 | 2508 | 2508G>C | | | |
25330125 | 2517 | 2517G>A | | | |
25330132 | 2524 | 2524C>T | | | |
25330137 | 2529 | 2529T>C | | | |
25330167 | 2559 | 2559T>C | | | |
25330229 | 2621 | 2621C>T | | | |
25330251 | 2643 | 2643A>C | | | |
25330295 | 2687 | 2687A>T | | | |
25330295 | 2687 | 2687del A | | | |
25330301 | 2693 | 2693C>A | | | |
25330305 | 2697 | 2697T>C | | | |
25330312 | 2704 | 2704del TG | | | |
25330316 | 2708 | 2708C>T | | | |
25330345 | 2737 | 2737G>C | | | |
25330346 | 2738 | 2738A>G | | | |
25330382 | 2774 | 2774C>A | | | |
25330390 | 2782 | 2782G>A | | | |
25330405 | 2797 | 2797C>T | | | |
25330406 | 2798 | 2798A>C | | | |
25330406 | 2798 | 2798A>G | | | |
25330410 | 2802 | 2802T>A | | | |
25330412 | 2804 | 2804C>T | | | |
25330422 | 2814 | 2814A>G | | | |
25330427 | 2819 | 2819T>C | | | |
25330474 | 2837 | 2837G>A | | | |
25330491 | 2837 | 2837C>T | | | |
25330493 | 2837 | 2837del GTGA | | | |
25330516 | IVS10+71 | IVS10+71T>C | |