Position | Substitution | Effect | Templated | Alleles |
exon 2 |
---|
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) |