Chromosome Position HGVSc HGVSp 17 78078396 c.11G>A p.Arg4Lys 17 78078402 c.17C>T p.Pro6Leu 17 78078408 c.23G>A p.Cys8Tyr 17 78078416 c.31C>T p.Arg11Trp 17 78078417 c.32G>A p.Arg11Gln 17 78078417 c.32G>T p.Arg11Leu 17 78078419 c.34C>T p.Leu12Phe 17 78078420 c.35T>C p.Leu12Pro 17 78078428 c.43G>A p.Val15Ile 17 78078432 c.47G>C p.Cys16Ser 17 78078434 c.49G>A p.Ala17Thr 17 78078435 c.50C>T p.Ala17Val 17 78078440 c.55G>A p.Val19Met 17 78078444 c.59C>T p.Ser20Phe 17 78078450 c.65C>T p.Ala22Val 17 78078452 c.67A>G p.Thr23Ala 17 78078455 c.70G>A p.Ala24Thr 17 78078459 c.74C>T p.Ala25Val 17 78078461 c.76C>T p.Leu26Phe 17 78078464 c.79C>G p.Leu27Val 17 78078483 c.98A>G p.His33Arg 17 78078485 c.100G>T p.Asp34Tyr 17 78078494 c.109C>G p.Leu37Val 17 78078500 c.115C>T p.Pro39Ser 17 78078504 c.119G>A p.Arg40Gln 17 78078516 c.131G>T p.Gly44Val 17 78078542 c.157C>A p.His53Asn 17 78078543 c.158A>G p.His53Arg 17 78078545 c.160C>A p.Pro54Thr 17 78078551 c.166C>T p.His56Tyr 17 78078561 c.176G>A p.Gly59Glu 17 78078582 c.197G>A p.Arg66Gln 17 78078590 c.205C>G p.Gln69Glu 17 78078591 c.206A>G p.Gln69Arg 17 78078594 c.209C>A p.Ala70Glu 17 78078598 c.213C>A p.His71Gln 17 78078602 c.217G>A p.Gly73Ser 17 78078606 c.221G>A p.Arg74His 17 78078606 c.221G>C p.Arg74Pro 17 78078608 c.223C>T p.Pro75Ser 17 78078614 c.229G>C p.Ala77Pro 17 78078620 c.235C>T p.Pro79Ser 17 78078632 c.247G>A p.Asp83Asn 17 78078633 c.248A>T p.Asp83Val 17 78078635 c.250G>A p.Val84Ile 17 78078642 c.257C>G p.Pro86Arg 17 78078644 c.259A>C p.Asn87His 17 78078650 c.265C>T p.Arg89Cys 17 78078651 c.266G>A p.Arg89His 17 78078653 c.268T>C p.Phe90Leu 17 78078656 c.271G>A p.Asp91Asn 17 78078656 c.271G>T p.Asp91Tyr 17 78078662 c.277G>A p.Ala93Thr 17 78078665 c.280C>A p.Pro94Thr 17 78078671 c.286A>G p.Lys96Glu 17 78078677 c.292A>T p.Ile98Phe 17 78078683 c.298C>G p.Gln100Glu 17 78078695 c.310G>C p.Glu104Gln 17 78078695 c.310G>A p.Glu104Lys 17 78078699 c.314C>A p.Ala105Asp 17 78078699 c.314C>T p.Ala105Val 17 78078702 c.317G>A p.Arg106His 17 78078704 c.319G>A p.Gly107Ser 17 78078713 c.328T>C p.Tyr110His 17 78078744 c.359C>G p.Ala120Gly 17 78078747 c.362A>G p.Gln121Arg 17 78078750 c.365T>G p.Met122Arg 17 78078753 c.368G>A p.Gly123Glu 17 78078773 c.388C>T p.Pro130Ser 17 78078780 c.395G>C p.Ser132Thr 17 78078785 c.400C>T p.Pro134Ser 17 78078790 c.405C>A p.Ser135Arg 17 78078797 c.412C>G p.Leu138Val 17 78078805 c.420C>A p.Asn140Lys 17 78078810 c.425G>A p.Ser142Asn 17 78078811 c.426C>A p.Ser142Arg 17 78078820 c.435A>T p.Glu145Asp 17 78078831 c.446C>T p.Thr149Met 17 78078845 c.460C>T p.Arg154Cys 17 78078846 c.461G>A p.Arg154His 17 78078873 c.488A>T p.Asp163Val 17 78078887 c.502C>T p.Arg168Trp 17 78078888 c.503G>T p.Arg168Leu 17 78078907 c.522G>T p.Glu174Asp 17 78078917 c.532C>T p.Arg178Cys 17 78078924 c.539A>G p.His180Arg 17 78078926 c.541T>C p.Phe181Leu 17 78078930 c.545C>G p.Thr182Arg 17 78078930 c.545C>T p.Thr182Met 17 78079550 c.549C>G p.Ile183Met 17 78079561 c.560C>G p.Ala187Gly 17 78079569 c.568C>T p.Arg190Cys 17 78079570 c.569G>T p.Arg190Leu 17 78079572 c.571T>A p.Tyr191Asn 17 78079577 c.576G>C p.Glu192Asp 17 78079591 c.590C>A p.Thr197Asn 17 78079594 c.593C>T p.Pro198Leu 17 78079597 c.596G>A p.Arg199His 17 78079600 c.599T>A p.Val200Asp 17 78079608 c.607C>T p.Arg203Trp 17 78079609 c.608G>A p.Arg203Gln 17 78079611 c.610G>A p.Ala204Thr 17 78079615 c.614C>T p.Pro205Leu 17 78079618 c.617C>G p.Ser206Cys 17 78079632 c.631G>A p.Val211Met 17 78079635 c.634G>A p.Glu212Lys 17 78079644 c.643G>A p.Glu215Lys 17 78079654 c.653T>C p.Phe218Ser 17 78079659 c.658G>T p.Val220Leu 17 78079669 c.668A>G p.His223Arg 17 78079677 c.676C>G p.Leu226Val 17 78079678 c.677T>C p.Leu226Pro 17 78079683 c.682G>A p.Gly228Ser 17 78079686 c.685C>T p.Arg229Cys 17 78079687 c.686G>A p.Arg229His 17 78079689 c.688G>A p.Val230Met 17 78081363 c.700A>G p.Thr234Ala 17 78081364 c.701C>T p.Thr234Met 17 78081366 c.703A>G p.Thr235Ala 17 78081367 c.704C>T p.Thr235Met 17 78081369 c.706G>T p.Val236Leu 17 78081388 c.725C>A p.Ala242Glu 17 78081399 c.736C>T p.Leu246Phe 17 78081415 c.752C>T p.Ser251Leu 17 78081424 c.761C>T p.Ser254Leu 17 78081430 c.767A>G p.Tyr256Cys 17 78081432 c.769A>G p.Ile257Val 17 78081444 c.781G>A p.Ala261Thr 17 78081451 c.788A>G p.His263Arg 17 78081457 c.794G>A p.Ser265Asn 17 78081458 c.795T>A p.Ser265Arg 17 78081484 c.821C>T p.Thr274Ile 17 78081503 c.840C>G p.Asn280Lys 17 78081505 c.842G>A p.Arg281Gln 17 78081513 c.850G>A p.Ala284Thr 17 78081514 c.851C>G p.Ala284Gly 17 78081514 c.851C>T p.Ala284Val 17 78081517 c.854C>T p.Pro285Leu 17 78081520 c.857C>T p.Thr286Met 17 78081599 c.859C>T p.Pro287Ser 17 78081602 c.862G>A p.Gly288Ser 17 78081603 c.863G>A p.Gly288Asp 17 78081606 c.866C>T p.Ala289Val 17 78081623 c.883C>A p.His295Asn 17 78081650 c.910G>A p.Gly304Ser 17 78081653 c.913G>A p.Gly305Arg 17 78081662 c.922C>T p.His308Tyr 17 78081664 c.924C>A p.His308Gln 17 78081674 c.934C>A p.Leu312Met 17 78082104 c.971C>A p.Pro324Gln 17 78082104 c.971C>G p.Pro324Arg 17 78082112 c.979G>A p.Ala327Thr 17 78082128 c.995C>T p.Ser332Leu 17 78082140 c.1007T>A p.Ile336Asn 17 78082152 c.1019A>G p.Tyr340Cys 17 78082154 c.1021A>G p.Ile341Val 17 78082176 c.1043A>G p.Lys348Arg 17 78082191 c.1058A>G p.Gln353Arg 17 78082202 c.1069G>A p.Val357Ile 17 78082300 c.1088T>G p.Met363Arg 17 78082305 c.1093C>T p.Pro365Ser 17 78082308 c.1096T>C p.Tyr366His 17 78082314 c.1102G>A p.Gly368Ser 17 78082335 c.1123C>T p.Arg375Cys 17 78082365 c.1153C>T p.Arg385Cys 17 78082366 c.1154G>A p.Arg385His 17 78082374 c.1162G>A p.Val388Met 17 78082377 c.1165G>A p.Glu389Lys 17 78082383 c.1171A>G p.Met391Val 17 78082384 c.1172T>C p.Met391Thr 17 78082396 c.1184A>T p.His395Leu 17 78082398 c.1186T>G p.Phe396Val 17 78082400 c.1188C>G p.Phe396Leu 17 78082402 c.1190C>G p.Pro397Arg 17 78082404 c.1192C>A p.Leu398Met 17 78082499 c.1198G>A p.Val400Ile 17 78082521 c.1220A>G p.Tyr407Cys 17 78082523 c.1222A>T p.Met408Leu 17 78082530 c.1229C>T p.Ser410Phe 17 78082532 c.1231C>T p.Arg411Trp 17 78082533 c.1232G>A p.Arg411Gln 17 78082565 c.1264C>T p.Arg422Trp 17 78082566 c.1265G>A p.Arg422Gln 17 78082575 c.1274C>T p.Pro425Leu 17 78082575 c.1274C>A p.Pro425Gln 17 78082586 c.1285C>G p.Gln429Glu 17 78082587 c.1286A>G p.Gln429Arg 17 78082589 c.1288G>A p.Glu430Lys 17 78082599 c.1298A>G p.Gln433Arg 17 78082604 c.1303G>A p.Gly435Ser 17 78082607 c.1306C>T p.Arg436Trp 17 78082608 c.1307G>A p.Arg436Gln 17 78082611 c.1310G>A p.Arg437His 17 78082620 c.1319T>C p.Met440Thr 17 78082621 c.1320G>T p.Met440Ile 17 78083747 c.1330C>T p.Pro444Ser 17 78083753 c.1336A>C p.Ile446Leu 17 78083753 c.1336A>G p.Ile446Val 17 78083760 c.1343G>C p.Ser448Thr 17 78083763 c.1346C>T p.Ser449Leu 17 78083769 c.1352C>G p.Pro451Arg 17 78083771 c.1354G>T p.Ala452Ser 17 78083774 c.1357G>A p.Gly453Arg 17 78083794 c.1377C>G p.Asp459Glu 17 78083795 c.1378G>A p.Glu460Lys 17 78083804 c.1387C>T p.Arg463Trp 17 78083808 c.1391G>A p.Arg464Lys 17 78083809 c.1392G>C p.Arg464Ser 17 78083813 c.1396G>A p.Val466Ile 17 78083828 c.1411G>A p.Glu471Lys 17 78083834 c.1417G>A p.Gly473Ser 17 78083841 c.1424C>T p.Pro475Leu 17 78084526 c.1438G>A p.Val480Ile 17 78084550 c.1462C>G p.Pro488Ala 17 78084624 c.1536C>A p.Phe512Leu 17 78084625 c.1537G>A p.Asp513Asn 17 78084628 c.1540G>A p.Gly514Ser 17 78084637 c.1549A>G p.Ile517Val 17 78084795 c.1607A>G p.Asn536Ser 17 78084812 c.1624C>T p.Pro542Ser 17 78084818 c.1630G>A p.Val544Met 17 78085784 c.1639G>A p.Val547Met 17 78085788 c.1643T>G p.Val548Gly 17 78085790 c.1645G>T p.Gly549Trp 17 78085799 c.1654C>A p.Leu552Ile 17 78085803 c.1658A>G p.Gln553Arg 17 78085806 c.1661C>T p.Ala554Val 17 78085814 c.1669A>G p.Ile557Val 17 78085824 c.1679C>T p.Ser560Phe 17 78085850 c.1705T>C p.Tyr569His 17 78085861 c.1716C>A p.His572Gln 17 78085871 c.1726G>A p.Gly576Ser 17 78085886 c.1741A>C p.Ile581Leu 17 78085888 c.1743C>G p.Ile581Met 17 78085889 c.1744G>A p.Ala582Thr 17 78086379 c.1757C>T p.Ala586Val 17 78086384 c.1762G>A p.Val588Met 17 78086393 c.1771C>T p.Arg591Trp 17 78086394 c.1772G>A p.Arg591Gln 17 78086397 c.1775G>A p.Gly592Glu 17 78086400 c.1778C>T p.Thr593Ile 17 78086406 c.1784C>T p.Pro595Leu 17 78086427 c.1805C>G p.Thr602Ser 17 78086445 c.1823G>A p.Arg608Gln 17 78086447 c.1825T>C p.Tyr609His 17 78086450 c.1828G>A p.Ala610Thr 17 78086457 c.1835A>G p.His612Arg 17 78086463 c.1841C>T p.Thr614Met 17 78086471 c.1849G>A p.Val617Met 17 78086495 c.1873G>A p.Ala625Thr 17 78086504 c.1882G>C p.Val628Leu 17 78086504 c.1882G>A p.Val628Met 17 78086508 c.1886C>T p.Pro629Leu 17 78086695 c.1909C>A p.Leu637Met 17 78086716 c.1930G>T p.Ala644Ser 17 78086717 c.1931C>T p.Ala644Val 17 78086722 c.1936G>A p.Val646Ile 17 78086743 c.1957A>G p.Thr653Ala 17 78086792 c.2006C>G p.Pro669Arg 17 78086797 c.2011A>G p.Met671Val 17 78086798 c.2012T>C p.Met671Thr 17 78086810 c.2024A>C p.Asn675Thr 17 78087026 c.2050C>T p.Pro684Ser 17 78087027 c.2051C>T p.Pro684Leu 17 78087040 c.2064C>A p.Ser688Arg 17 78087040 c.2064C>G p.Ser688Arg 17 78087041 c.2065G>A p.Glu689Lys 17 78087042 c.2066A>G p.Glu689Gly 17 78087045 c.2069C>T p.Pro690Leu 17 78087054 c.2078A>G p.Gln693Arg 17 78087068 c.2092G>A p.Ala698Thr 17 78087086 c.2110G>A p.Ala704Thr 17 78087098 c.2122C>A p.His708Asn 17 78087098 c.2122C>G p.His708Asp 17 78087098 c.2122C>T p.His708Tyr 17 78087113 c.2137T>C p.Phe713Leu 17 78087128 c.2152G>A p.Val718Ile 17 78087131 c.2155G>T p.Ala719Ser 17 78087131 c.2155G>A p.Ala719Thr 17 78087132 c.2156C>A p.Ala719Glu 17 78087132 c.2156C>T p.Ala719Val 17 78087137 c.2161G>C p.Glu721Gln 17 78090771 c.2194C>A p.Pro732Thr 17 78090775 c.2198A>G p.Lys733Arg 17 78090784 c.2207G>A p.Ser736Asn 17 78090792 c.2215A>T p.Thr739Ser 17 78090792 c.2215A>G p.Thr739Ala 17 78090795 c.2218G>A p.Val740Met 17 78090798 c.2221G>A p.Asp741Asn 17 78090800 c.2223C>G p.Asp741Glu 17 78090816 c.2239G>C p.Gly747Arg 17 78090822 c.2245G>T p.Ala749Ser 17 78090835 c.2258C>A p.Thr753Asn 17 78090852 c.2275G>A p.Gly759Arg 17 78090859 c.2282C>G p.Ala761Gly 17 78090884 c.2307G>C p.Leu769Phe 17 78090900 c.2323C>A p.Leu775Met 17 78090907 c.2330C>T p.Thr777Met 17 78091399 c.2332G>C p.Val778Leu 17 78091405 c.2338A>G p.Ile780Val 17 78091405 c.2338A>T p.Ile780Leu 17 78091414 c.2347C>T p.Leu783Phe 17 78091432 c.2365C>G p.Pro789Ala 17 78091433 c.2366C>G p.Pro789Arg 17 78091438 c.2371G>T p.Ala791Ser 17 78091439 c.2372C>T p.Ala791Val 17 78091448 c.2381G>A p.Arg794His 17 78091456 c.2389G>A p.Ala797Thr 17 78091459 c.2392A>G p.Ile798Val 17 78091468 c.2401G>A p.Glu801Lys 17 78091471 c.2404G>A p.Gly802Arg 17 78091475 c.2408A>G p.Gln803Arg 17 78091483 c.2416A>C p.Thr806Pro 17 78091484 c.2417C>T p.Thr806Met 17 78091490 c.2423C>T p.Pro808Leu 17 78091495 c.2428C>T p.Pro810Ser 17 78091496 c.2429C>T p.Pro810Leu 17 78091513 c.2446G>A p.Val816Ile 17 78091522 c.2455C>T p.Arg819Trp 17 78091523 c.2456G>A p.Arg819Gln 17 78091525 c.2458G>T p.Ala820Ser 17 78091534 c.2467A>C p.Ile823Leu 17 78091996 c.2486C>T p.Pro829Leu 17 78092008 c.2498C>T p.Thr833Ile 17 78092015 c.2505G>C p.Glu835Asp 17 78092019 c.2509C>T p.Arg837Cys 17 78092020 c.2510G>A p.Arg837His 17 78092041 c.2531C>A p.Ala844Asp 17 78092062 c.2552G>C p.Gly851Ala 17 78092062 c.2552G>T p.Gly851Val 17 78092062 c.2552G>A p.Gly851Glu 17 78092071 c.2561G>A p.Arg854Gln 17 78092091 c.2581G>A p.Asp861Asn 17 78092119 c.2609G>A p.Arg870Gln 17 78092145 c.2635C>G p.Leu879Val 17 78092151 c.2641A>G p.Arg881Gly 17 78092456 c.2651C>T p.Thr884Met 17 78092461 c.2656G>A p.Val886Met 17 78092473 c.2668G>C p.Val890Leu 17 78092476 c.2671C>T p.Arg891Cys 17 78092477 c.2672G>A p.Arg891His 17 78092479 c.2674G>A p.Val892Met 17 78092495 c.2690C>G p.Ala897Gly 17 78092506 c.2701C>A p.Leu901Met 17 78092530 c.2725G>A p.Val909Met 17 78092540 c.2735C>T p.Ala912Val 17 78092558 c.2753C>T p.Ser918Phe 17 78092558 c.2753C>G p.Ser918Cys 17 78092563 c.2758G>A p.Gly920Ser 17 78092585 c.2780C>T p.Thr927Ile 17 78092596 c.2791G>A p.Asp931Asn 17 78093074 c.2803C>G p.Leu935Val 17 78093080 c.2809A>G p.Ile937Val 17 78093099 c.2828T>C p.Met943Thr 17 78093113 c.2842C>T p.Leu948Phe 17 78093116 c.2845G>A p.Val949Ile 17 78093120 c.2849G>A p.Ser950Asn