Position | Substitution | Effect | Templated | Alleles | |
exon 10 | |||||
---|---|---|---|---|---|
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 |