NM_005422:p.Val11Val
NM_005422:c.33C>A
chr11:120973407:C>A
NM_005422:p.Ala16Pro
NM_005422:c.46G>C
chr11:120973420:G>C
NM_005422:p.Gln19Arg
NM_005422:c.56A>G
chr11:120973430:A>G
NM_005422:c.65-14A>G
chr11:120976526:A>G
NM_005422:p.Glu26Glu
NM_005422:c.78G>A
chr11:120976553:G>A
NM_005422:p.Leu27Pro
NM_005422:c.80T>C
chr11:120976555:T>C
NM_005422:p.Val60Ile
NM_005422:c.178G>A
chr11:120976653:G>A
NM_005422:c.198+13G>A
chr11:120976686:G>A
NM_005422:c.199-4G>A
chr11:120979916:G>A
NM_005422:c.199-3T>C
chr11:120979917:T>C
NM_005422:p.Ser80Ser
NM_005422:c.240C>T
chr11:120979961:C>T
NM_005422:p.Thr83Met
NM_005422:c.248C>T
chr11:120979969:C>T
NM_005422:c.266delT
chr11:120979987:T>-
NM_005422:p.Ala94Gly
NM_005422:c.281C>G
chr11:120980002:C>G
NM_005422:p.Val96Ile
NM_005422:c.286G>A
chr11:120980007:G>A
NM_005422:p.Pro119Thr
NM_005422:c.355C>A
chr11:120980076:C>A
NM_005422:p.Ala120Ser
NM_005422:c.358G>T
chr11:120980079:G>T
NM_005422:p.Ser140Ser
NM_005422:c.420T>C
chr11:120980141:T>C
NM_005422:p.Ile146Thr
NM_005422:c.437T>C
chr11:120980158:T>C
NM_005422:c.487-19G>A
chr11:120983762:G>A
NM_005422:c.487-7C>G
chr11:120983774:C>G
NM_005422:c.487-6C>A
chr11:120983775:C>A
NM_005422:p.Tyr176Cys
NM_005422:c.527A>G
chr11:120983821:A>G
NM_005422:p.Thr179Thr
NM_005422:c.537C>G
chr11:120983831:C>G
NM_005422:p.Tyr184Tyr
NM_005422:c.552C>T
chr11:120983846:C>T
NM_005422:p.Thr192Thr
NM_005422:c.576G>T
chr11:120983870:G>T
NM_005422:p.Gly195Gly
NM_005422:c.585C>T
chr11:120983879:C>T
NM_005422:p.Val205Leu
NM_005422:c.613G>C
chr11:120983907:G>C
NM_005422:c.624+5G>A
chr11:120983923:G>A
NM_005422:c.624+11C>G
chr11:120983929:C>G
NM_005422:c.625-19T>A
chr11:120984243:T>A
NM_005422:c.625-4G>T
chr11:120984258:G>T
NM_005422:c.651dup1
chr11:120984288:->C
NM_005422.2:c.651dup1
chr11:120984289:->C
NM_005422:c.656_659delTCTT
chr11:120984293:TCTT>-
NM_005422:p.Pro223Gln
NM_005422:c.668C>A
chr11:120984305:C>A
NM_005422:p.Pro223Pro
NM_005422:c.669G>A
chr11:120984306:G>A
NM_005422:p.Thr227Asn
NM_005422:c.680C>A
chr11:120984317:C>A
NM_005422:p.Pro228Pro
NM_005422:c.684C>G
chr11:120984321:C>G
NM_005422:p.Glu229Lys
NM_005422:c.685G>A
chr11:120984322:G>A
NM_005422:p.Ile230Ile
NM_005422:c.690C>T
chr11:120984327:C>T
NM_005422:p.Asn232Asn
NM_005422:c.696T>C
chr11:120984333:T>C
NM_005422:p.Gln234Arg
NM_005422:c.701A>G
chr11:120984338:A>G
NM_005422:p.Thr236Ala
NM_005422:c.706A>G
chr11:120984343:A>G
NM_005422:p.Asn238Asn
NM_005422:c.714C>T
chr11:120984351:C>T
NM_005422:p.Gly243Asp
NM_005422:c.728G>A
chr11:120984365:G>A
NM_005422:p.Ile254Ile
NM_005422:c.762T>A
chr11:120984399:T>A
NM_005422:p.Asp255Ala
NM_005422:c.764A>C
chr11:120984401:A>C
NM_005422:p.Asn258Ser
NM_005422:c.773A>G
chr11:120984410:A>G
NM_005422:c.790+6G>A
chr11:120984433:G>A
NM_005422:c.790+9T>G
chr11:120984436:T>G
NM_005422:c.790+12C>T
chr11:120984439:C>T
NM_005422:p.Arg268Gln
NM_005422:c.803G>A
chr11:120989027:G>A
NM_005422:p.Arg269Gln
NM_005422:c.806G>A
chr11:120989030:G>A
NM_005422:p.Gly270Arg
NM_005422:c.808G>C
chr11:120989032:G>C
NM_005422:p.Val281Ile
NM_005422:c.841G>A
chr11:120989065:G>A
NM_005422:p.Val281Val
NM_005422:c.843C>T
chr11:120989067:C>T
NM_005422:p.Ile292Phe
NM_005422:c.874A>T
chr11:120989098:A>T
NM_005422:p.Tyr293Cys
NM_005422:c.878A>G
chr11:120989102:A>G
NM_005422:p.Ser298Ser
NM_005422:c.894C>T
chr11:120989118:C>T
NM_005422:p.Cys305Cys
NM_005422:c.915C>T
chr11:120989139:C>T
NM_005422:p.Tyr313Cys
NM_005422:c.938A>G
chr11:120989162:A>G
NM_005422:p.Val317Glu
NM_005422:c.950T>A
chr11:120989174:T>A
NM_005422:p.Thr319Asn
NM_005422:c.956C>A
chr11:120989180:C>A
NM_005422:p.Val324Val
NM_005422:c.972G>C
chr11:120989196:G>C
NM_005422:p.Asp334Asp
NM_005422:c.1002C>T
chr11:120989226:C>T
NM_005422:p.Gly335Ser
NM_005422:c.1003G>A
chr11:120989227:G>A
NM_005422:p.Phe338Ser
NM_005422:c.1013T>C
chr11:120989237:T>C
NM_005422:p.Ser343Phe
NM_005422:c.1028C>T
chr11:120989252:C>T
NM_005422:p.Leu348Leu
NM_005422:c.1044G>T
chr11:120989268:G>T
NM_005422:p.Arg350Gln
NM_005422:c.1049G>A
chr11:120989273:G>A
NM_005422:p.Thr355Ile
NM_005422:c.1064C>T
chr11:120989288:C>T
NM_005422:p.Ser362Ile
NM_005422:c.1085G>T
chr11:120989309:G>T
NM_005422:p.Val363Val
NM_005422:c.1089G>T
chr11:120989313:G>T
NM_005422:p.Arg371Gly
NM_005422:c.1111A>G
chr11:120989335:A>G
NM_005422:p.Ser373Thr
NM_005422:c.1117T>A
chr11:120989341:T>A
NM_005422:p.Ser376Phe
NM_005422:c.1127C>T
chr11:120989351:C>T
NM_005422:p.Val378Met
NM_005422:c.1132G>A
chr11:120989356:G>A
NM_005422:p.Ile390Thr
NM_005422:c.1169T>C
chr11:120989393:T>C
NM_005422:p.Pro393Ser
NM_005422:c.1177C>T
chr11:120989401:C>T
NM_005422:p.Asp414Val
NM_005422:c.1241A>T
chr11:120996048:A>T
NM_005422:p.Gly416Glu
NM_005422:c.1247G>A
chr11:120996054:G>A
NM_005422:p.Thr431Ser
NM_005422:c.1291A>T
chr11:120996098:A>T
NM_005422:p.Leu436Leu
NM_005422:c.1306T>C
chr11:120996113:T>C
NM_005422:p.Asp440Asp
NM_005422:c.1320T>C
chr11:120996127:T>C
NM_005422:p.Gly451Ser
NM_005422:c.1351G>A
chr11:120996158:G>A
NM_005422:p.Tyr464Cys
NM_005422:c.1391A>G
chr11:120996198:A>G
NM_005422:p.Pro475Pro
NM_005422:c.1425G>A
chr11:120996232:G>A
NM_005422:p.Asp476Val
NM_005422:c.1427A>T
chr11:120996234:A>T
NM_005422:p.Pro479Leu
NM_005422:c.1436C>T
chr11:120996243:C>T
NM_005422:p.Pro479Pro
NM_005422:c.1437G>A
chr11:120996244:G>A
NM_005422:p.Met481Ile
NM_005422:c.1443G>A
chr11:120996250:G>A
NM_005422:p.Leu484Pro
NM_005422:c.1451T>C
chr11:120996258:T>C
NM_005422:p.Gly487Gly
NM_005422:c.1461A>G
chr11:120996268:A>G
NM_005422:p.Ala495Ala
NM_005422:c.1485A>G
chr11:120996292:A>G
NM_005422:p.Asp500Glu
NM_005422:c.1500C>G
chr11:120996307:C>G
NM_005422:p.Ser501Phe
NM_005422:c.1502C>T
chr11:120996309:C>T
NM_005422:p.Ser501Ser
NM_005422:c.1503C>T
chr11:120996310:C>T
NM_005422:p.Cys503Cys
NM_005422:c.1509C>T
chr11:120996316:C>T
NM_005422:p.Val504Val
NM_005422:c.1512C>T
chr11:120996319:C>T
NM_005422:p.Asp511Asn
NM_005422:c.1531G>A
chr11:120996338:G>A
NM_005422:p.Leu527Phe
NM_005422:c.1579C>T
chr11:120996386:C>T
NM_005422:p.Glu536Glu
NM_005422:c.1608G>A
chr11:120996415:G>A
NM_005422:p.Val541Met
NM_005422:c.1621G>A
chr11:120996428:G>A
NM_005422:p.Ser549Ser
NM_005422:c.1647C>T
chr11:120996454:C>T
NM_005422:p.Val551Met
NM_005422:c.1651G>A
chr11:120996458:G>A
NM_005422:p.Thr562Thr
NM_005422:c.1686G>A
chr11:120996493:G>A
NM_005422:p.Leu573Val
NM_005422:c.1717C>G
chr11:120996524:C>G
NM_005422:p.Ile582Val
NM_005422:c.1744A>G
chr11:120996551:A>G
NM_005422:p.Ile582Thr
NM_005422:c.1745T>C
chr11:120996552:T>C
NM_005422:p.Arg586Gln
NM_005422:c.1757G>A
chr11:120996564:G>A
NM_005422:p.Thr587Thr
NM_005422:c.1761C>T
chr11:120996568:C>T
NM_005422:p.Cys591Tyr
NM_005422:c.1772G>A
chr11:120996579:G>A
NM_005422:c.1774+1G>A
chr11:120996582:G>A
NM_005422:c.1775-1G>A
chr11:120998460:G>A
NM_005422:p.Ser604Ser
NM_005422:c.1812C>T
chr11:120998498:C>T
NM_005422:p.Val605Gly
NM_005422:c.1814T>G
chr11:120998500:T>G
NM_005422:p.Asp612Asn
NM_005422:c.1834G>A
chr11:120998520:G>A
NM_005422:p.Arg621Trp
NM_005422:c.1861C>T
chr11:120998547:C>T
NM_005422:p.Thr628Thr
NM_005422:c.1884A>G
chr11:120998570:A>G
NM_005422:p.Phe637Phe
NM_005422:c.1911C>T
chr11:120998597:C>T
NM_005422:p.Ser640Thr
NM_005422:c.1919G>C
chr11:120998605:G>C
NM_005422:p.Thr641Pro
NM_005422:c.1921A>C
chr11:120998607:A>C
NM_005422:p.Phe654Phe
NM_005422:c.1962C>T
chr11:120998648:C>T
NM_005422:p.Gly656Gly
NM_005422:c.1968C>A
chr11:120998654:C>A
NM_005422:p.Phe664Val
NM_005422:c.1990T>G
chr11:120998676:T>G
NM_005422:p.Thr672Thr
NM_005422:c.2016T>C
chr11:120998702:T>C
NM_005422:p.Asp682Tyr
NM_005422:c.2044G>T
chr11:120998730:G>T
NM_005422:p.Asp682Glu
NM_005422:c.2046C>G
chr11:120998732:C>G
NM_005422:p.Asn687Lys
NM_005422:c.2061C>G
chr11:120998747:C>G
NM_005422:p.Lys688Lys
NM_005422:c.2064G>A
chr11:120998750:G>A
NM_005422:p.Gly693Arg
NM_005422:c.2077G>A
chr11:120998763:G>A
NM_005422:p.Cys696Cys
NM_005422:c.2088C>T
chr11:120998774:C>T
NM_005422:p.Ala697Thr
NM_005422:c.2089G>A
chr11:120998775:G>A
NM_005422:p.Lys708Arg
NM_005422:c.2123A>G
chr11:120998809:A>G
NM_005422:p.Glu710Lys
NM_005422:c.2128G>A
chr11:120998814:G>A
NM_005422:p.Glu710Asp
NM_005422:c.2130G>T
chr11:120998816:G>T
NM_005422:p.Leu714Leu
NM_005422:c.2140C>T
chr11:120998826:C>T
NM_005422:p.Gly726Ser
NM_005422:c.2176G>A
chr11:120998862:G>A
NM_005422:p.Ser728Ser
NM_005422:c.2184C>T
chr11:120998870:C>T
NM_005422:p.Arg746His
NM_005422:c.2237G>A
chr11:120998923:G>A
NM_005422:p.Pro747Ser
NM_005422:c.2239C>T
chr11:120998925:C>T
NM_005422:p.Ile752Thr
NM_005422:c.2255T>C
chr11:120998941:T>C
NM_005422:p.Ile752Ile
NM_005422:c.2256C>T
chr11:120998942:C>T
NM_005422:p.Lys756Glu
NM_005422:c.2266A>G
chr11:120998952:A>G
NM_005422:p.Lys756Arg
NM_005422:c.2267A>G
chr11:120998953:A>G
NM_005422:p.Lys756Lys
NM_005422:c.2268G>A
chr11:120998954:G>A
NM_005422:p.Lys758Gln
NM_005422:c.2272A>C
chr11:120998958:A>C
NM_005422:p.Gly762Arg
NM_005422:c.2284G>A
chr11:120998970:G>A
NM_005422:p.Pro763Leu
NM_005422:c.2288C>T
chr11:120998974:C>T
NM_005422:p.Ala764Gly
NM_005422:c.2291C>G
chr11:120998977:C>G
NM_005422:p.Arg767Arg
NM_005422:c.2299C>A
chr11:120998985:C>A
NM_005422:p.Gly768Arg
NM_005422:c.2302G>A
chr11:120998988:G>A
NM_005422:p.Ala774Ala
NM_005422:c.2322C>T
chr11:120999008:C>T
NM_005422:p.Gln776Leu
NM_005422:c.2327A>T
chr11:120999013:A>T
NM_005422:p.Ile783Ile
NM_005422:c.2349C>T
chr11:120999035:C>T
NM_005422:p.Ser786Ser
NM_005422:c.2358G>A
chr11:120999044:G>A
NM_005422:p.Val788Ile
NM_005422:c.2362G>A
chr11:120999048:G>A
NM_005422:c.2367+9C>T
chr11:120999062:C>T
NM_005422:p.Ser803Leu
NM_005422:c.2408C>T
chr11:121000387:C>T
NM_005422:p.Leu806Leu
NM_005422:c.2418G>A
chr11:121000397:G>A
NM_005422:p.Ser814Arg
NM_005422:c.2442T>A
chr11:121000421:T>A
NM_005422:p.Thr815Met
NM_005422:c.2444C>T
chr11:121000423:C>T
NM_005422:p.Thr815Thr
NM_005422:c.2445G>A
chr11:121000424:G>A
NM_005422:p.Asp829Asp
NM_005422:c.2487C>T
chr11:121000466:C>T
NM_005422:p.Ile830Thr
NM_005422:c.2489T>C
chr11:121000468:T>C
NM_005422:p.Arg836Gln
NM_005422:c.2507G>A
chr11:121000486:G>A
NM_005422:p.Leu837Leu
NM_005422:c.2511G>A
chr11:121000490:G>A
NM_005422:p.Thr840Thr
NM_005422:c.2520A>G
chr11:121000499:A>G
NM_005422:p.Leu848Leu
NM_005422:c.2544G>A
chr11:121000523:G>A
NM_005422:p.Cys849Cys
NM_005422:c.2547C>T
chr11:121000526:C>T
NM_005422:p.Gly850Ser
NM_005422:c.2548G>A
chr11:121000527:G>A
NM_005422:p.Asn853Ser
NM_005422:c.2558A>G
chr11:121000537:A>G
NM_005422:p.Ala856Thr
NM_005422:c.2566G>A
chr11:121000545:G>A
NM_005422:p.Ala856Ser
NM_005422:c.2566G>T
chr11:121000545:G>T
NM_005422:p.Asp858Asp
NM_005422:c.2574C>T
chr11:121000553:C>T
NM_005422:p.Glu859Lys
NM_005422:c.2575G>A
chr11:121000554:G>A
NM_005422:p.Leu862Leu
NM_005422:c.2586C>G
chr11:121000565:C>G
NM_005422:p.Asn864Lys
NM_005422:c.2592C>A
chr11:121000571:C>A
NM_005422:p.Asn864Asn
NM_005422:c.2592C>T
chr11:121000571:C>T
NM_005422:p.Gly865Ser
NM_005422:c.2593G>A
chr11:121000572:G>A
NM_005422:p.Thr868Thr
NM_005422:c.2604G>T
chr11:121000583:G>T
NM_005422:p.Phe874Leu
NM_005422:c.2622C>A
chr11:121000601:C>A
NM_005422:p.Thr880Ala
NM_005422:c.2638A>G
chr11:121000617:A>G
NM_005422:p.Asn886Ser
NM_005422:c.2657A>G
chr11:121000636:A>G
NM_005422:p.Ser900Ser
NM_005422:c.2700G>A
chr11:121000679:G>A
NM_005422:p.Arg909Cys
NM_005422:c.2725C>T
chr11:121000704:C>T
NM_005422:p.Cys912Cys
NM_005422:c.2736C>T
chr11:121000715:C>T
NM_005422:p.Gly913Ser
NM_005422:c.2737G>A
chr11:121000716:G>A
NM_005422:p.Ile915Ile
NM_005422:c.2745C>T
chr11:121000724:C>T
NM_005422:p.Asp917Asn
NM_005422:c.2749G>A
chr11:121000728:G>A
NM_005422:p.Glu925Glu
NM_005422:c.2775G>A
chr11:121000754:G>A
NM_005422:p.Cys926Cys
NM_005422:c.2778C>T
chr11:121000757:C>T
NM_005422:p.His927His
NM_005422:c.2781T>C
chr11:121000760:T>C
NM_005422:p.Val932Leu
NM_005422:c.2794G>C
chr11:121000773:G>C
NM_005422:p.Val932Ala
NM_005422:c.2795T>C
chr11:121000774:T>C
NM_005422:p.Tyr935Tyr
NM_005422:c.2805T>C
chr11:121000784:T>C
NM_005422:p.Arg942Cys
NM_005422:c.2824C>T
chr11:121000803:C>T
NM_005422:p.Leu943Met
NM_005422:c.2827C>A
chr11:121000806:C>A
NM_005422:p.Gln945Gln
NM_005422:c.2835G>A
chr11:121000814:G>A
NM_005422:p.Gly947Gly
NM_005422:c.2841G>A
chr11:121000820:G>A
NM_005422:p.Arg959Trp
NM_005422:c.2875C>T
chr11:121000854:C>T
NM_005422:p.Arg959Gln
NM_005422:c.2876G>A
chr11:121000855:G>A
NM_005422:p.Ser962Ser
NM_005422:c.2886C>T
chr11:121000865:C>T
NM_005422:p.Ala967Pro
NM_005422:c.2899G>C
chr11:121000878:G>C
NM_005422:p.Ala967Val
NM_005422:c.2900C>T
chr11:121000879:C>T
NM_005422:p.Ala967Ala
NM_005422:c.2901G>A
chr11:121000880:G>A
NM_005422:p.Val969Met
NM_005422:c.2905G>A
chr11:121000884:G>A
NM_005422:p.Val969Val
NM_005422:c.2907G>C
chr11:121000886:G>C
NM_005422:p.Pro973Leu
NM_005422:c.2918C>T
chr11:121000897:C>T
NM_005422:p.Arg975Trp
NM_005422:c.2923C>T
chr11:121000902:C>T
NM_005422:c.2941+8G>C
chr11:121000928:G>C
NM_005422:c.2942-17T>C
chr11:121008113:T>C
NM_005422:c.2942-16C>T
chr11:121008114:C>T
NM_005422:c.2942-6C>T
chr11:121008124:C>T
NM_005422:p.Leu982Pro
NM_005422:c.2945T>C
chr11:121008133:T>C
NM_005422:p.His989Gln
NM_005422:c.2967C>A
chr11:121008155:C>A
NM_005422:p.Thr1002Thr
NM_005422:c.3006C>G
chr11:121008194:C>G
NM_005422:p.Thr1004Thr
NM_005422:c.3012C>G
chr11:121008200:C>G
NM_005422:p.Gly1006Ser
NM_005422:c.3016G>A
chr11:121008204:G>A
NM_005422:p.Val1010Met
NM_005422:c.3028G>A
chr11:121008216:G>A
NM_005422:p.Arg1033Trp
NM_005422:c.3097C>T
chr11:121008285:C>T
NM_005422:p.Ser1034Cys
NM_005422:c.3100A>T
chr11:121008288:A>T
NM_005422:p.Glu1035Lys
NM_005422:c.3103G>A
chr11:121008291:G>A
NM_005422:p.Glu1041Stop
NM_005422:c.3121G>T
chr11:121008309:G>T
NM_005422:p.Asn1048Ser
NM_005422:c.3143A>G
chr11:121008331:A>G
NM_005422:p.Cys1057Ser
NM_005422:c.3169T>A
chr11:121008357:T>A
NM_005422:p.Glu1073Lys
NM_005422:c.3217G>A
chr11:121008405:G>A
NM_005422:p.Thr1074Thr
NM_005422:c.3222C>G
chr11:121008410:C>G
NM_005422:p.Glu1081Glu
NM_005422:c.3243G>A
chr11:121008431:G>A
NM_005422:p.Ile1101Ile
NM_005422:c.3303C>T
chr11:121008491:C>T
NM_005422:p.Val1102Ile
NM_005422:c.3304G>A
chr11:121008492:G>A
NM_005422:p.Tyr1105Ser
NM_005422:c.3314A>C
chr11:121008502:A>C
NM_005422:p.Tyr1105Tyr
NM_005422:c.3315C>T
chr11:121008503:C>T
NM_005422:p.Gly1106Asp
NM_005422:c.3317G>A
chr11:121008505:G>A
NM_005422:p.Leu1126Arg
NM_005422:c.3377T>G
chr11:121008565:T>G
NM_005422:p.Asp1136His
NM_005422:c.3406G>C
chr11:121008594:G>C
NM_005422:p.Val1143Ile
NM_005422:c.3427G>A
chr11:121008615:G>A
NM_005422:p.Arg1150Gln
NM_005422:c.3449G>A
chr11:121008637:G>A
NM_005422:p.Asp1162Asp
NM_005422:c.3486C>T
chr11:121008674:C>T
NM_005422:p.Thr1164Thr
NM_005422:c.3492C>T
chr11:121008680:C>T
NM_005422:p.Val1165Met
NM_005422:c.3493G>A
chr11:121008681:G>A
NM_005422:p.Val1171Met
NM_005422:c.3511G>A
chr11:121008699:G>A
NM_005422:p.Arg1174Pro
NM_005422:c.3521G>C
chr11:121008709:G>C
NM_005422:c.3543+18C>A
chr11:121008749:C>A
NM_005422:p.Arg1186Trp
NM_005422:c.3556C>T
chr11:121016276:C>T
NM_005422:p.Lys1192Gln
NM_005422:c.3574A>C
chr11:121016294:A>C
NM_005422:p.Lys1197Glu
NM_005422:c.3589A>G
chr11:121016309:A>G
NM_005422:p.Leu1225Val
NM_005422:c.3673C>G
chr11:121016393:C>G
NM_005422:p.Leu1225Gln
NM_005422:c.3674T>A
chr11:121016394:T>A
NM_005422:p.Val1229Val
NM_005422:c.3687C>T
chr11:121016407:C>T
NM_005422:p.Asn1235Ser
NM_005422:c.3704A>G
chr11:121016424:A>G
NM_005422:p.Leu1240Val
NM_005422:c.3718C>G
chr11:121016438:C>G
NM_005422:p.Arg1243Cys
NM_005422:c.3727C>T
chr11:121016447:C>T
NM_005422:p.Arg1243His
NM_005422:c.3728G>A
chr11:121016448:G>A
NM_005422:p.Asn1245Asn
NM_005422:c.3735C>T
chr11:121016455:C>T
NM_005422:p.Gly1246Ser
NM_005422:c.3736G>A
chr11:121016456:G>A
NM_005422:p.Pro1248Ser
NM_005422:c.3742C>T
chr11:121016462:C>T
NM_005422:p.Pro1248Leu
NM_005422:c.3743C>T
chr11:121016463:C>T
NM_005422:p.Asn1264Ser
NM_005422:c.3791A>G
chr11:121016511:A>G
NM_005422:p.Val1279Val
NM_005422:c.3837G>A
chr11:121016557:G>A
NM_005422:p.Gly1282Val
NM_005422:c.3845G>T
chr11:121016565:G>T
NM_005422:p.Arg1284His
NM_005422:c.3851G>A
chr11:121016571:G>A
NM_005422:p.Ala1289Val
NM_005422:c.3866C>T
chr11:121016586:C>T
NM_005422:p.Val1291Leu
NM_005422:c.3871G>T
chr11:121016591:G>T
NM_005422:p.Gln1299Arg
NM_005422:c.3896A>G
chr11:121016616:A>G
NM_005422:p.His1315His
NM_005422:c.3945C>T
chr11:121016665:C>T
NM_005422:p.Pro1320Ser
NM_005422:c.3958C>T
chr11:121016678:C>T
NM_005422:p.Tyr1324Cys
NM_005422:c.3971A>G
chr11:121016691:A>G
NM_005422:p.Gly1335Glu
NM_005422:c.4004G>A
chr11:121016724:G>A
NM_005422:p.Ala1337Thr
NM_005422:c.4009G>A
chr11:121016729:G>A
NM_005422:p.Ala1337Ala
NM_005422:c.4011G>A
chr11:121016731:G>A
NM_005422:p.Thr1340Thr
NM_005422:c.4020C>T
chr11:121016740:C>T
NM_005422:p.Ala1349Thr
NM_005422:c.4045G>A
chr11:121016765:G>A
NM_005422:p.Cys1352Tyr
NM_005422:c.4055G>A
chr11:121016775:G>A
NM_005422:p.Thr1354Ile
NM_005422:c.4061C>T
chr11:121016781:C>T
NM_005422:p.Thr1358Thr
NM_005422:c.4074G>A
chr11:121016794:G>A
NM_005422:p.Trp1362Stop
NM_005422:c.4085G>A
chr11:121016805:G>A
NM_005422:p.Thr1366Met
NM_005422:c.4097C>T
chr11:121016817:C>T
NM_005422:p.Thr1366Thr
NM_005422:c.4098G>A
chr11:121016818:G>A
NM_005422:c.4105+6T>C
chr11:121016831:T>C
NM_005422:c.4105+8C>T
chr11:121016833:C>T
NM_005422:c.4105+13C>T
chr11:121016838:C>T
NM_005422:c.4106-16G>C
chr11:121023574:G>C
NM_005422:c.4106-8T>C
chr11:121023582:T>C
NM_005422:p.Tyr1378Tyr
NM_005422:c.4134C>T
chr11:121023618:C>T
NM_005422:p.Ser1380Thr
NM_005422:c.4139G>C
chr11:121023623:G>C
NM_005422:p.Val1382Leu
NM_005422:c.4144G>T
chr11:121023628:G>T
NM_005422:p.Arg1388His
NM_005422:c.4163G>A
chr11:121023647:G>A
NM_005422:p.Ala1390Ala
NM_005422:c.4170C>T
chr11:121023654:C>T
NM_005422:p.Arg1393His
NM_005422:c.4178G>A
chr11:121023662:G>A
NM_005422:p.Cys1398Ser
NM_005422:c.4193G>C
chr11:121023677:G>C
NM_005422:p.Ser1399Ser
NM_005422:c.4197C>T
chr11:121023681:C>T
NM_005422:p.Cys1402Cys
NM_005422:c.4206C>T
chr11:121023690:C>T
NM_005422:p.Val1403Leu
NM_005422:c.4207G>T
chr11:121023691:G>T
NM_005422:p.Asp1409His
NM_005422:c.4225G>C
chr11:121023709:G>C
NM_005422:p.Asp1409Asp
NM_005422:c.4227C>T
chr11:121023711:C>T
NM_005422:p.Tyr1412Tyr
NM_005422:c.4236C>T
chr11:121023720:C>T
NM_005422:p.Ser1418Asn
NM_005422:c.4253G>A
chr11:121023737:G>A
NM_005422:p.Ile1420Met
NM_005422:c.4260C>G
chr11:121023744:C>G
NM_005422:p.Gly1426Ser
NM_005422:c.4276G>A
chr11:121023760:G>A
NM_005422:c.4306-17C>T
chr11:121028533:C>T
NM_005422:p.Leu1439Ile
NM_005422:c.4315C>A
chr11:121028559:C>A
NM_005422:p.Leu1439Leu
NM_005422:c.4317A>C
chr11:121028561:A>C
NM_005422:p.Thr1446Arg
NM_005422:c.4337C>G
chr11:121028581:C>G
NM_005422:p.Asp1467Glu
NM_005422:c.4401C>G
chr11:121028645:C>G
NM_005422:p.Asn1474Asn
NM_005422:c.4422C>T
chr11:121028666:C>T
NM_005422:p.Ser1481Gly
NM_005422:c.4441A>G
chr11:121028685:A>G
NM_005422:p.Lys1483Lys
NM_005422:c.4449G>A
chr11:121028693:G>A
NM_005422:p.Val1494Ile
NM_005422:c.4480G>A
chr11:121028724:G>A
NM_005422:p.Val1494Ala
NM_005422:c.4481T>C
chr11:121028725:T>C
NM_005422:p.Arg1496Cys
NM_005422:c.4486C>T
chr11:121028730:C>T
NM_005422:p.Phe1498Leu
NM_005422:c.4494C>A
chr11:121028738:C>A
NM_005422:p.Cys1509Gly
NM_005422:c.4525T>G
chr11:121028769:T>G
NM_005422:p.Phe1511Phe
NM_005422:c.4533C>T
chr11:121028777:C>T
NM_005422:p.Pro1521Ser
NM_005422:c.4561C>T
chr11:121028805:C>T
NM_005422:p.Leu1527Leu
NM_005422:c.4581T>C
chr11:121028825:T>C
NM_005422:p.Ile1529Leu
NM_005422:c.4585A>C
chr11:121028829:A>C
NM_005422:p.Asp1532Asn
NM_005422:c.4594G>A
chr11:121028838:G>A
NM_005422:p.Ser1535Ser
NM_005422:c.4605G>A
chr11:121028849:G>A
NM_005422:p.Ala1536Val
NM_005422:c.4607C>T
chr11:121028851:C>T
NM_005422:p.Pro1537Pro
NM_005422:c.4611C>T
chr11:121028855:C>T
NM_005422:p.Val1545Ile
NM_005422:c.4633G>A
chr11:121028877:G>A
NM_005422:p.Thr1561Thr
NM_005422:c.4683G>C
chr11:121028927:G>C
NM_005422:c.4690-4A>G
chr11:121030840:A>G
NM_005422:p.Ile1574Val
NM_005422:c.4720A>G
chr11:121030874:A>G
NM_005422:p.Ile1574Met
NM_005422:c.4722A>G
chr11:121030876:A>G
NM_005422:p.Ser1584Thr
NM_005422:c.4751G>C
chr11:121030905:G>C
NM_005422:p.Thr1592Thr
NM_005422:c.4776C>T
chr11:121030930:C>T
NM_005422:p.Ile1596Ile
NM_005422:c.4788C>T
chr11:121030942:C>T
NM_005422:p.Ile1598Met
NM_005422:c.4794A>G
chr11:121030948:A>G
NM_005422:p.Val1605Ile
NM_005422:c.4813G>A
chr11:121030967:G>A
NM_005422:p.Leu1614Leu
NM_005422:c.4842G>C
chr11:121030996:G>C
NM_005422:p.Cys1619Ser
NM_005422:c.4856G>C
chr11:121031010:G>C
NM_005422:p.Cys1619Stop
NM_005422:c.4857C>A
chr11:121031011:C>A
NM_005422:p.Gly1620Ser
NM_005422:c.4858G>A
chr11:121031012:G>A
NM_005422:p.Gly1623Gly
NM_005422:c.4869C>T
chr11:121031023:C>T
NM_005422:p.Asn1626Asn
NM_005422:c.4878C>T
chr11:121031032:C>T
NM_005422:p.Arg1637Stop
NM_005422:c.4909C>T
chr11:121031063:C>T
NM_005422:p.Pro1640Leu
NM_005422:c.4919C>T
chr11:121031073:C>T
NM_005422:p.Ser1644Ser
NM_005422:c.4932C>T
chr11:121031086:C>T
NM_005422:p.Ala1648Ala
NM_005422:c.4944C>T
chr11:121031098:C>T
NM_005422:p.Gly1655Gly
NM_005422:c.4965C>T
chr11:121031119:C>T
NM_005422:c.4976+6G>A
chr11:121031136:G>A
NM_005422:c.4976+18C>A
chr11:121031148:C>A
NM_005422:p.Pro1663Leu
NM_005422:c.4988C>T
chr11:121032795:C>T
NM_005422:p.Ser1671Leu
NM_005422:c.5012C>T
chr11:121032819:C>T
NM_005422:p.Val1680Ala
NM_005422:c.5039T>C
chr11:121032846:T>C
NM_005422:p.Ile1682Ile
NM_005422:c.5046C>T
chr11:121032853:C>T
NM_005422:p.Gln1683His
NM_005422:c.5049G>T
chr11:121032856:G>T
NM_005422:p.Met1697Ile
NM_005422:c.5091G>A
chr11:121032898:G>A
NM_005422:p.Pro1703Leu
NM_005422:c.5108C>T
chr11:121032915:C>T
NM_005422:p.Gly1706Gly
NM_005422:c.5118G>A
chr11:121032925:G>A
NM_005422:p.Asp1709Tyr
NM_005422:c.5125G>T
chr11:121032932:G>T
NM_005422:p.Leu1711Phe
NM_005422:c.5131C>T
chr11:121032938:C>T
NM_005422:p.Tyr1714Tyr
NM_005422:c.5142C>T
chr11:121032949:C>T
NM_005422:p.Asp1720Asp
NM_005422:c.5160C>T
chr11:121032967:C>T
NM_005422:p.Gly1721Ser
NM_005422:c.5161G>A
chr11:121032968:G>A
NM_005422:p.Gly1721Gly
NM_005422:c.5163C>T
chr11:121032970:C>T
NM_005422:p.Ser1724Asn
NM_005422:c.5171G>A
chr11:121032978:G>A
NM_005422:p.Lys1726Asn
NM_005422:c.5178G>T
chr11:121032985:G>T
NM_005422:p.Ala1736Thr
NM_005422:c.5206G>A
chr11:121033013:G>A
NM_005422:p.Tyr1737Stop
NM_005422:c.5211C>A
chr11:121033018:C>A
NM_005422:p.Ala1740Pro
NM_005422:c.5218G>C
chr11:121033025:G>C
NM_005422:p.Gly1745Arg
NM_005422:c.5233G>A
chr11:121033040:G>A
NM_005422:p.Thr1749Thr
NM_005422:c.5247C>T
chr11:121033054:C>T
NM_005422:c.5273-19T>C
chr11:121035963:T>C
NM_005422:c.5273-8delC
chr11:121035974:C>-
NM_005422:c.5273-5T>C
chr11:121035977:T>C
NM_005422:p.Ala1758Val
NM_005422:c.5273C>T
chr11:121035982:C>T
NM_005422:p.Gly1767Gly
NM_005422:c.5301G>A
chr11:121036010:G>A
NM_005422:p.Ala1768Ala
NM_005422:c.5304G>A
chr11:121036013:G>A
NM_005422:p.Cys1775Cys
NM_005422:c.5325C>T
chr11:121036034:C>T
NM_005422:c.5383+3G>A
chr11:121036095:G>A
NM_005422:c.5384-20C>T
chr11:121037267:C>T
NM_005422:c.5384-19G>A
chr11:121037268:G>A
NM_005422:p.Lys1817Lys
NM_005422:c.5451G>A
chr11:121037354:G>A
NM_005422:p.Cys1818Gly
NM_005422:c.5452T>G
chr11:121037355:T>G
NM_005422:p.Leu1820Phe
NM_005422:c.5458C>T
chr11:121037361:C>T
NM_005422:p.Gly1824Asp
NM_005422:c.5471G>A
chr11:121037374:G>A
NM_005422:p.Gly1829Gly
NM_005422:c.5487C>T
chr11:121037390:C>T
NM_005422:p.Val1830Met
NM_005422:c.5488G>A
chr11:121037391:G>A
NM_005422:p.Cys1837Arg
NM_005422:c.5509T>C
chr11:121037412:T>C
NM_005422:p.Cys1837Gly
NM_005422:c.5509T>G
chr11:121037412:T>G
NM_005422:p.Gly1839Ser
NM_005422:c.5515G>A
chr11:121037418:G>A
NM_005422:p.Asn1859Asn
NM_005422:c.5577C>T
chr11:121037480:C>T
NM_005422:c.5586+12A>G
chr11:121037501:A>G
NM_005422:c.5587-7T>C
chr11:121038756:T>C
NM_005422:p.Thr1866Met
NM_005422:c.5597C>T
chr11:121038773:C>T
NM_005422:p.Thr1866Thr
NM_005422:c.5598G>A
chr11:121038774:G>A
NM_005422:p.Tyr1870Cys
NM_005422:c.5609A>G
chr11:121038785:A>G
NM_005422:p.Asn1872Asn
NM_005422:c.5616C>T
chr11:121038792:C>T
NM_005422:p.Trp1875Stop
NM_005422:c.5625G>A
chr11:121038801:G>A
NM_005422:p.Ser1878Arg
NM_005422:c.5632A>C
chr11:121038808:A>C
NM_005422:c.5634C>G
chr11:121038810:C>G
NM_005422:p.Ser1878Ser
NM_005422:c.5634C>T
chr11:121038810:C>T
NM_005422:p.Arg1890Cys
NM_005422:c.5668C>T
chr11:121038844:C>T
NM_005422:p.Arg1890His
NM_005422:c.5669G>A
chr11:121038845:G>A
NM_005422:p.Thr1891Met
NM_005422:c.5672C>T
chr11:121038848:C>T
NM_005422:p.Ile1906Thr
NM_005422:c.5717T>C
chr11:121038893:T>C
NM_005422:p.Val1911Val
NM_005422:c.5733T>G
chr11:121038909:T>G
NM_005422:c.5751-20C>T
chr11:121039366:C>T
NM_005422:p.Val1918Val
NM_005422:c.5754A>T
chr11:121039389:A>T
NM_005422:p.Leu1921Leu
NM_005422:c.5761C>T
chr11:121039396:C>T
NM_005422:p.Thr1922Thr
NM_005422:c.5766A>G
chr11:121039401:A>G
NM_005422:p.Leu1936Leu
NM_005422:c.5808C>T
chr11:121039443:C>T
NM_005422:p.Asn1939Asn
NM_005422:c.5817C>T
chr11:121039452:C>T
NM_005422:p.Tyr1942Phe
NM_005422:c.5825A>T
chr11:121039460:A>T
NM_005422:p.Tyr1946His
NM_005422:c.5836T>C
chr11:121039471:T>C
NM_005422:p.Arg1947His
NM_005422:c.5840G>A
chr11:121039475:G>A
NM_005422:p.Leu1959Leu
NM_005422:c.5877G>C
chr11:121039512:G>C
NM_005422:p.Tyr1960His
NM_005422:c.5878T>C
chr11:121039513:T>C
NM_005422:p.Ala1970Thr
NM_005422:c.5908G>A
chr11:121039543:G>A
NM_005422:p.Thr1971Thr
NM_005422:c.5913A>T
chr11:121039548:A>T
NM_005422:p.Arg1993Gln
NM_005422:c.5978G>A
chr11:121039613:G>A
NM_005422:p.Ile1997Thr
NM_005422:c.5990T>C
chr11:121039625:T>C
NM_005422:c.5999+5G>T
chr11:121039639:G>T
NM_005422:c.6000-18A>G
chr11:121058523:A>G
NM_005422:p.Lys2005Gln
NM_005422:c.6013A>C
chr11:121058554:A>C
NM_005422:p.Gly2010Asp
NM_005422:c.6029G>A
chr11:121058570:G>A
NM_005422:p.Glu2012Lys
NM_005422:c.6034G>A
chr11:121058575:G>A
NM_005422:c.6037delG
chr11:121058578:G>-
NM_005422:p.Ser2017Ser
NM_005422:c.6051C>T
chr11:121058592:C>T
NM_005422:p.Leu2018Leu
NM_005422:c.6052C>T
chr11:121058593:C>T
NM_005422:p.Thr2019Ala
NM_005422:c.6055A>G
chr11:121058596:A>G
NM_005422:p.Arg2021His
NM_005422:c.6062G>A
chr11:121058603:G>A
NM_005422:p.Tyr2033Tyr
NM_005422:c.6099C>T
chr11:121058640:C>T
NM_005422:p.Asp2034Asn
NM_005422:c.6100G>A
chr11:121058641:G>A
NM_005422:p.Asp2034Asp
NM_005422:c.6102C>T
chr11:121058643:C>T
NM_005422:p.Cys2045Cys
NM_005422:c.6135C>T
chr11:121058676:C>T
NM_005422:p.Ser2047Leu
NM_005422:c.6140C>T
chr11:121058681:C>T
NM_005422:p.Tyr2050Stop
NM_005422:c.6150C>A
chr11:121058691:C>A
NM_005422:p.Ile2054Ile
NM_005422:c.6162C>T
chr11:121058703:C>T
NM_005422:p.His2058Arg
NM_005422:c.6173A>G
chr11:121059799:A>G
NM_005422:p.Thr2067Thr
NM_005422:c.6201A>G
chr11:121059827:A>G
NM_005422:c.6203_6218delAAGAGCCCAAAGAACA
chr11:121059829:AAGAGCCCAAAGAACA>-
NM_005422:c.6250+4T>C
chr11:121059880:T>C
NM_005422:c.6250+12C>T
chr11:121059888:C>T
NM_005422:p.Gly2084Gly
NM_005422:c.6252G>T
chr11:121060474:G>T
NM_005422:p.Thr2099Met
NM_005422:c.6296C>T
chr11:121060518:C>T
NM_005422:p.Thr2099Thr
NM_005422:c.6297G>C
chr11:121060519:G>C
NM_005422:p.Arg2101Gln
NM_005422:c.6302G>A
chr11:121060524:G>A
NM_005422:p.Glu2116Lys
NM_005422:c.6346G>A
chr11:121060568:G>A
NM_005422:c.6367+4G>A
chr11:121060593:G>A
NM_005422:c.6367+17C>G
chr11:121060606:C>G
NM_005422:p.Thr2134Met
NM_005422:c.6401C>T
chr11:121061448:C>T
NM_005422:p.Thr2134Thr
NM_005422:c.6402G>A
chr11:121061449:G>A
NM_005422:c.6402G>T
chr11:121061449:G>T
NM_005422:p.Thr2153Met
NM_005422:c.6458C>T
chr11:121061505:C>T
NM_001170630:c.-3G>A
chr9:71789286:G>A
NM_004817:p.Pro2Leu
NM_004817:c.5C>T
chr9:71789293:C>T
NM_004817:p.Gly8Ala
NM_004817:c.23G>C
chr9:71789311:G>C
NM_004817:p.Pro11Arg
NM_004817:c.32C>G
chr9:71789320:C>G
NM_004817:p.Arg13Trp
NM_004817:c.37C>T
chr9:71789325:C>T
NM_004817:p.Gly17Gly
NM_004817:c.51T>C
chr9:71789339:T>C
NM_004817:p.Leu19Phe
NM_004817:c.55C>T
chr9:71789343:C>T
NM_001170415:p.Lys2Asn
NM_001170415:c.6G>T
chr9:71820083:G>T
NM_001170415:p.Val15Leu
NM_001170415:c.43G>C
chr9:71820120:G>C
NM_001170415:p.Lys16Glu
NM_001170415:c.46A>G
chr9:71820123:A>G
NM_001170415:p.Gly23Ala
NM_001170415:c.68G>C
chr9:71820145:G>C
NM_001170415:p.Arg24His
NM_001170415:c.71G>A
chr9:71820148:G>A
NM_004817:c.61-6A>T
chr9:71827458:A>T
NM_004817:p.Gly23Asp
NM_004817:c.68G>A
chr9:71827471:G>A
NM_004817:p.Leu27Val
NM_004817:c.79C>G
chr9:71827482:C>G
NM_004817:p.Val48Ala
NM_004817:c.143T>C
chr9:71831283:T>C
NM_004817:p.Thr62Met
NM_004817:c.185C>T
chr9:71831325:C>T
NM_004817:p.Val69Met
NM_004817:c.205G>A
chr9:71831345:G>A
NM_004817:p.Leu70Leu
NM_004817:c.210C>T
chr9:71831350:C>T
NM_004817:p.Pro71Leu
NM_004817:c.212C>T
chr9:71831352:C>T
NM_004817:p.Val85Val
NM_004817:c.255G>C
chr9:71833188:G>C
NM_004817:p.Val86Ile
NM_004817:c.256G>A
chr9:71833189:G>A
NM_004817:p.Thr91Thr
NM_004817:c.273C>A
chr9:71833206:C>A
NM_004817:p.Ser99Ser
NM_004817:c.297G>A
chr9:71833230:G>A
NM_004817:p.Ala112Thr
NM_004817:c.334G>A
chr9:71833267:G>A
NM_004817:c.342+1G>A
chr9:71833276:G>A
NM_004817:c.342+12G>T
chr9:71833287:G>T
NM_004817:p.Ala125Ala
NM_004817:c.375C>T
chr9:71835835:C>T
NM_004817:p.Gln128Lys
NM_004817:c.382C>A
chr9:71835842:C>A
NM_004817:p.Pro132Arg
NM_004817:c.395C>G
chr9:71835855:C>G
NM_004817:p.Arg167His
NM_004817:c.500G>A
chr9:71835960:G>A
NM_004817:p.Ser170Gly
NM_004817:c.508A>G
chr9:71835968:A>G
NM_004817:p.Asp173Asn
NM_004817:c.517G>A
chr9:71835977:G>A
NM_004817:p.Ala184Ser
NM_004817:c.550G>T
chr9:71836010:G>T
NM_004817:p.Arg187Gly
NM_004817:c.559C>G
chr9:71836019:C>G
NM_004817:p.Arg193Trp
NM_004817:c.577C>T
chr9:71836037:C>T
NM_004817:p.Ser200Ile
NM_004817:c.599G>T
chr9:71836059:G>T
NM_004817:p.Arg215His
NM_004817:c.644G>A
chr9:71836104:G>A
NM_004817:p.Arg219Gln
NM_004817:c.656G>A
chr9:71836116:G>A
NM_004817:p.Arg233Gln
NM_004817:c.698G>A
chr9:71836158:G>A
NM_004817:p.Arg235Gln
NM_004817:c.704G>A
chr9:71836164:G>A
NM_004817:p.Glu250Lys
NM_004817:c.748G>A
chr9:71836208:G>A
NM_004817:p.Tyr261Cys
NM_004817:c.782A>G
chr9:71836242:A>G
NM_004817:p.Arg263Gln
NM_004817:c.788G>A
chr9:71836248:G>A
NM_004817:p.Ser266Ser
NM_004817:c.798C>T
chr9:71836258:C>T
NM_004817:p.Arg271His
NM_004817:c.812G>A
chr9:71836272:G>A
NM_004817:p.Arg278Cys
NM_004817:c.832C>T
chr9:71836292:C>T
NM_004817:p.Arg293Arg
NM_004817:c.877C>A
chr9:71836337:C>A
NM_004817:p.Arg293Trp
NM_004817:c.877C>T
chr9:71836337:C>T
NM_004817:p.Ser296Asn
NM_004817:c.887G>A
chr9:71836347:G>A
NM_004817:p.Ser296Ser
NM_004817:c.888C>T
chr9:71836348:C>T
NM_004817:c.895delC
chr9:71836355:C>-
NM_004817:p.Pro303Leu
NM_004817:c.908C>T
chr9:71836368:C>T
NM_004817:p.Gly304Arg
NM_004817:c.910G>A
chr9:71836370:G>A
NM_004817:p.Gly304Glu
NM_004817:c.911G>A
chr9:71836371:G>A
NM_004817:p.Ile306Ile
NM_004817:c.918C>T
chr9:71836378:C>T
NM_004817:p.Arg322Arg
NM_004817:c.966G>T
chr9:71840233:G>T
NM_004817:p.Gly324Gly
NM_004817:c.972G>T
chr9:71840239:G>T
NM_004817:p.Ile327Ile
NM_004817:c.981C>A
chr9:71840248:C>A
NM_004817:p.Val329Ile
NM_004817:c.985G>A
chr9:71840252:G>A
NM_004817:p.Val329Glu
NM_004817:c.986T>A
chr9:71840253:T>A
NM_004817:p.Thr335Thr
NM_004817:c.1005G>A
chr9:71840272:G>A
NM_004817:p.His345His
NM_004817:c.1035C>T
chr9:71840302:C>T
NM_004817:p.Gly355Arg
NM_004817:c.1063G>C
chr9:71840944:G>C
NM_004817:p.Thr364Met
NM_004817:c.1091C>T
chr9:71840972:C>T
NM_004817:p.Ile370Val
NM_004817:c.1108A>G
chr9:71840989:A>G
NM_004817:p.Gly375Gly
NM_004817:c.1125A>G
chr9:71841006:A>G
NM_004817:p.Leu379Leu
NM_004817:c.1137A>G
chr9:71841018:A>G
NM_004817:p.Pro393Pro
NM_004817:c.1179G>A
chr9:71841060:G>A
NM_004817:c.1210+11A>G
chr9:71841102:A>G
NM_004817:c.1211-15T>C
chr9:71842666:T>C
NM_004817:p.Glu417Glu
NM_004817:c.1251G>A
chr9:71842721:G>A
NM_004817:p.Arg420Cys
NM_004817:c.1258C>T
chr9:71842728:C>T
NM_004817:p.Arg420His
NM_004817:c.1259G>A
chr9:71842729:G>A
NM_004817:p.Gln422Arg
NM_004817:c.1265A>G
chr9:71842735:A>G
NM_004817:p.Arg440Thr
NM_004817:c.1319G>C
chr9:71842789:G>C
NM_004817:c.1319+2T>C
chr9:71842791:T>C
NM_004817:c.1319+3A>G
chr9:71842792:A>G
NM_004817:c.1319+11A>G
chr9:71842800:A>G
NM_004817:p.Thr445Thr
NM_004817:c.1335G>A
chr9:71842912:G>A
NM_004817:p.Pro446Thr
NM_004817:c.1336C>A
chr9:71842913:C>A
NM_004817:p.Pro446Leu
NM_004817:c.1337C>T
chr9:71842914:C>T
NM_004817:p.Ser450Ser
NM_004817:c.1350C>T
chr9:71842927:C>T
NM_004817:p.Ala466Ala
NM_004817:c.1398A>G
chr9:71842975:A>G
NM_004817:p.Pro471Ser
NM_004817:c.1411C>T
chr9:71842988:C>T
NM_004817:p.Asp482Asn
NM_004817:c.1444G>A
chr9:71843021:G>A
NM_004817:p.Asp482Glu
NM_004817:c.1446C>A
chr9:71843023:C>A
NM_004817:p.Pro483Leu
NM_004817:c.1448C>T
chr9:71843025:C>T
NM_004817:c.1453+17A>C
chr9:71843047:A>C
NM_004817:p.Ala491Ala
NM_004817:c.1473C>A
chr9:71844119:C>A
NM_004817:p.Pro492Leu
NM_004817:c.1475C>T
chr9:71844121:C>T
NM_004817:p.Arg493Lys
NM_004817:c.1478G>A
chr9:71844124:G>A
NM_004817:p.Arg497Cys
NM_004817:c.1489C>T
chr9:71844135:C>T
NM_004817:p.Pro500Leu
NM_004817:c.1499C>T
chr9:71844145:C>T
NM_004817:p.Asp502Asp
NM_004817:c.1506T>C
chr9:71844152:T>C
NM_004817:p.Tyr506His
NM_004817:c.1516T>C
chr9:71844162:T>C
NM_004817:c.1520+12C>T
chr9:71844178:C>T
NM_004817:c.1521-7A>C
chr9:71844991:A>C
NM_004817:p.Arg514Arg
NM_004817:c.1542G>A
chr9:71845019:G>A
NM_004817:p.Ala544Val
NM_004817:c.1631C>T
chr9:71845108:C>T
NM_004817:p.Glu551Asp
NM_004817:c.1653A>T
chr9:71845130:A>T
NM_004817:p.Gly552Gly
NM_004817:c.1656A>G
chr9:71845133:A>G
NM_004817:p.Asp553Asn
NM_004817:c.1657G>A
chr9:71845134:G>A
NM_004817:p.Ala571Ala
NM_004817:c.1713C>G
chr9:71849396:C>G
NM_004817:p.Ala592Ala
NM_004817:c.1776C>T
chr9:71849459:C>T
NM_004817:c.1780+6C>A
chr9:71849469:C>A
NM_004817:p.Asp597Gly
NM_004817:c.1790A>G
chr9:71850953:A>G
NM_004817:p.Ile598Ile
NM_004817:c.1794C>T
chr9:71850957:C>T
NM_004817:p.Phe607Phe
NM_004817:c.1821T>C
chr9:71850984:T>C
NM_004817:p.Thr619Thr
NM_004817:c.1857T>A
chr9:71851020:T>A
NM_004817:p.Thr626Ser
NM_004817:c.1877C>G
chr9:71851040:C>G
NM_004817:p.Asp639Asp
NM_004817:c.1917C>T
chr9:71851080:C>T
NM_004817:p.Ala647Ser
NM_004817:c.1939G>T
chr9:71851102:G>T
NM_004817:p.Glu653Glu
NM_004817:c.1959G>A
chr9:71851122:G>A
NM_004817:p.Pro660Leu
NM_004817:c.1979C>T
chr9:71851142:C>T
NM_004817:p.Ala665Ala
NM_004817:c.1995T>A
chr9:71851868:T>A
NM_004817:p.Met668Ile
NM_004817:c.2004G>A
chr9:71851877:G>A
NM_004817:p.Ala674Thr
NM_004817:c.2020G>A
chr9:71851893:G>A
NM_004817:p.Arg676Thr
NM_004817:c.2027G>C
chr9:71851900:G>C
NM_004817:p.Asn678Asn
NM_004817:c.2034C>T
chr9:71851907:C>T
NM_004817:p.Gly680Gly
NM_004817:c.2040G>A
chr9:71851913:G>A
NM_004817:p.Arg682Gln
NM_004817:c.2045G>A
chr9:71851918:G>A
NM_004817:p.Gly694Glu
NM_004817:c.2081G>A
chr9:71851954:G>A
NM_004817:p.Val695Leu
NM_004817:c.2083G>T
chr9:71851956:G>T
NM_004817:p.Val710Ala
NM_004817:c.2129T>C
chr9:71852002:T>C
NM_004817:p.Ser711Pro
NM_004817:c.2131T>C
chr9:71852004:T>C
NM_004817:p.Ser713Gly
NM_004817:c.2137A>G
chr9:71852010:A>G
NM_004817:p.Arg725Gln
NM_004817:c.2174G>A
chr9:71852047:G>A
NM_004817:p.Phe736Leu
NM_004817:c.2206T>C
chr9:71852820:T>C
NM_004817:p.Phe736Phe
NM_004817:c.2208C>T
chr9:71852822:C>T
NM_004817:p.Gly737Ser
NM_004817:c.2209G>A
chr9:71852823:G>A
NM_004817:p.Ile742Thr
NM_004817:c.2225T>C
chr9:71852839:T>C
NM_004817:p.Thr757Ile
NM_004817:c.2270C>T
chr9:71852884:C>T
NM_004817:p.Glu759Asp
NM_004817:c.2277A>C
chr9:71853627:A>C
NM_004817:p.Thr760Met
NM_004817:c.2279C>T
chr9:71853629:C>T
NM_004817:p.Arg775Trp
NM_004817:c.2323C>T
chr9:71853673:C>T
NM_004817:p.Asn777Asp
NM_004817:c.2329A>G
chr9:71853679:A>G
NM_004817:p.Thr778Thr
NM_004817:c.2334C>T
chr9:71853684:C>T
NM_004817:p.Val779Met
NM_004817:c.2335G>A
chr9:71853685:G>A
NM_004817:p.Glu784Glu
NM_004817:c.2352A>G
chr9:71853702:A>G
NM_004817:p.Ala789Ala
NM_004817:c.2367A>G
chr9:71854864:A>G
NM_004817:p.Pro795Leu
NM_004817:c.2384C>T
chr9:71854881:C>T
NM_004817:p.Tyr803Tyr
NM_004817:c.2409C>T
chr9:71854906:C>T
NM_004817:p.Gly820Gly
NM_004817:c.2460T>C
chr9:71854957:T>C
NM_004817:p.Lys822Asn
NM_004817:c.2466A>C
chr9:71854963:A>C
NM_004817:p.Gln826Glu
NM_004817:c.2476C>G
chr9:71854973:C>G
NM_004817:p.Asn829Asp
NM_004817:c.2485A>G
chr9:71854982:A>G
NM_004817:p.Ser832Phe
NM_004817:c.2495C>T
chr9:71854992:C>T
NM_004817:p.Lys834Asn
NM_004817:c.2502A>T
chr9:71854999:A>T
NM_004817:p.Gln842His
NM_004817:c.2526A>C
chr9:71855023:A>C
NM_004817:p.His852Tyr
NM_004817:c.2554C>T
chr9:71855051:C>T
NM_004817:c.2567-4A>G
chr9:71861602:A>G
NM_004817:p.Gln879Arg
NM_004817:c.2636A>G
chr9:71861675:A>G
NM_004817:p.Ala882Ala
NM_004817:c.2646G>A
chr9:71861685:G>A
NM_004817:p.Gly892Gly
NM_004817:c.2676G>T
chr9:71862936:G>T
NM_004817:p.Pro897Pro
NM_004817:c.2691C>T
chr9:71862951:C>T
NM_004817:p.Arg900Ser
NM_004817:c.2698C>A
chr9:71862958:C>A
NM_004817:p.Met901Val
NM_004817:c.2701A>G
chr9:71862961:A>G
NM_004817:p.Ser902Ser
NM_004817:c.2706C>G
chr9:71862966:C>G
NM_004817:p.Thr905Thr
NM_004817:c.2715C>T
chr9:71862975:C>T
NM_004817:p.Met907Thr
NM_004817:c.2720T>C
chr9:71862980:T>C
NM_004817:p.Ala909Val
NM_004817:c.2726C>T
chr9:71862986:C>T
NM_004817:p.Ala909Ala
NM_004817:c.2727G>A
chr9:71862987:G>A
NM_004817:p.Cys914Cys
NM_004817:c.2742C>T
chr9:71863002:C>T
NM_004817:p.Arg917Arg
NM_004817:c.2751C>T
chr9:71863011:C>T
NM_004817:p.Thr925Thr
NM_004817:c.2775G>A
chr9:71863035:G>A
NM_004817:p.Asp926Asp
NM_004817:c.2778C>T
chr9:71863038:C>T
NM_004817:p.Gly930Gly
NM_004817:c.2790C>A
chr9:71863050:C>A
NM_004817:p.Ala931Thr
NM_004817:c.2791G>A
chr9:71863051:G>A
NM_004817:p.Leu937Pro
NM_004817:c.2810T>C
chr9:71863070:T>C
NM_004817:p.Pro940Leu
NM_004817:c.2819C>T
chr9:71863079:C>T
NM_004817:p.Pro944Pro
NM_004817:c.2832G>A
chr9:71863092:G>A
NM_004817:p.Arg951His
NM_004817:c.2852G>A
chr9:71863112:G>A
NM_004817:p.Arg951Arg
NM_004817:c.2853C>T
chr9:71863113:C>T
NM_004817:p.Ser953Leu
NM_004817:c.2858C>T
chr9:71863118:C>T
NM_004817:p.Ser953Ser
NM_004817:c.2859G>T
chr9:71863119:G>T
NM_001170630:p.Arg962Arg
NM_001170630:c.2886G>A
chr9:71863146:G>A
NM_001170630:p.Arg963Stop
NM_001170630:c.2887C>T
chr9:71863147:C>T
NM_001170630:p.Arg967Trp
NM_001170630:c.2899C>T
chr9:71863159:C>T
NM_001170630:p.Arg967Gln
NM_001170630:c.2900G>A
chr9:71863160:G>A
NM_001170630:p.His992Arg
NM_001170630:c.2975A>G
chr9:71863235:A>G
NM_004817:p.Ile962Val
NM_004817:c.2884A>G
chr9:71864294:A>G
NM_004817:p.Ser966Asn
NM_004817:c.2897G>A
chr9:71864307:G>A
NM_004817:p.Pro967Ala
NM_004817:c.2899C>G
chr9:71864309:C>G
NM_004817:p.Arg970Gln
NM_004817:c.2909G>A
chr9:71864319:G>A
NM_004817:c.2927delC
chr9:71864337:C>-
NM_004817:p.Ser979Ser
NM_004817:c.2937C>T
chr9:71864347:C>T
NM_004817:p.Gln981His
NM_004817:c.2943A>C
chr9:71864353:A>C
NM_004817:p.Pro987Pro
NM_004817:c.2961G>A
chr9:71864371:G>A
NM_004817:p.Pro996Ser
NM_004817:c.2986C>T
chr9:71864396:C>T
NM_004817:c.2991+5G>A
chr9:71864406:G>A
NM_004817:c.2991+8G>A
chr9:71864409:G>A
NM_004817:c.2992-8C>T
chr9:71865943:C>T
NM_004817:p.Asn1002Asn
NM_004817:c.3006C>T
chr9:71865965:C>T
NM_004817:p.Ser1010Phe
NM_004817:c.3029C>T
chr9:71865988:C>T
NM_004817:p.Ala1021Ala
NM_004817:c.3063C>T
chr9:71866022:C>T
NM_004817:p.Ala1023Ser
NM_004817:c.3067G>T
chr9:71866026:G>T
NM_004817:p.Ala1023Val
NM_004817:c.3068C>T
chr9:71866027:C>T
NM_004817:p.Gly1024Asp
NM_004817:c.3071G>A
chr9:71866030:G>A
NM_004817:p.Glu1026Lys
NM_004817:c.3076G>A
chr9:71866035:G>A
NM_004817:p.Arg1047Trp
NM_004817:c.3139C>T
chr9:71866098:C>T
NM_004817:p.Arg1047Pro
NM_004817:c.3140G>C
chr9:71866099:G>C
NM_004817:p.Ile1049Val
NM_004817:c.3145A>G
chr9:71866104:A>G
NM_004817:p.Leu1050Leu
NM_004817:c.3150G>A
chr9:71866109:G>A
NM_004817:p.Thr1054Ala
NM_004817:c.3160A>G
chr9:71866119:A>G
NM_004817:p.Val1064Leu
NM_004817:c.3190G>T
chr9:71866149:G>T
NM_004817:p.Pro1075Pro
NM_004817:c.3225C>T
chr9:71866184:C>T
NM_004817:p.Lys1076Arg
NM_004817:c.3227A>G
chr9:71866186:A>G
NM_004817:p.Leu1079Leu
NM_004817:c.3235C>T
chr9:71866194:C>T
NM_004817:p.Gly1080Ser
NM_004817:c.3238G>A
chr9:71866197:G>A
NM_004817:p.Glu1086Ala
NM_004817:c.3257A>C
chr9:71866216:A>C
NM_004817:p.Met1088Thr
NM_004817:c.3263T>C
chr9:71866222:T>C
NM_004817:p.Ala1106Val
NM_004817:c.3317C>T
chr9:71866276:C>T
NM_004817:c.3321+1G>A
chr9:71866281:G>A
NM_004817:c.3322-2A>C
chr9:71867729:A>C
NM_004817:p.Ile1108Val
NM_004817:c.3322A>G
chr9:71867731:A>G
NM_004817:p.His1114His
NM_004817:c.3342T>C
chr9:71867751:T>C
NM_004817:p.Thr1124Met
NM_004817:c.3371C>T
chr9:71867780:C>T
NM_004817:p.Thr1131Met
NM_004817:c.3392C>T
chr9:71867801:C>T
NM_004817:p.Thr1131Thr
NM_004817:c.3393G>A
chr9:71867802:G>A
NM_004817:p.Gln1133Stop
NM_004817:c.3397C>T
chr9:71867806:C>T
NM_004817:c.3407+7G>A
chr9:71867823:G>A
NM_004817:p.Pro1139Thr
NM_004817:c.3415C>A
chr9:71869132:C>A
NM_004817:p.Ala1145Pro
NM_004817:c.3433G>C
chr9:71869150:G>C
NM_004817:p.Gly1155Arg
NM_004817:c.3463G>A
chr9:71869180:G>A
NM_004817:c.3463G>C
chr9:71869180:G>C
NM_004817:p.Ser1159Arg
NM_004817:c.3477T>G
chr9:71869194:T>G
NM_004817:p.Ala1161Ala
NM_004817:c.3483C>A
chr9:71869200:C>A
NM_004817:p.Glu1165Glu
NM_004817:c.3495G>A
chr9:71869212:G>A
NM_004817:p.Arg1167Cys
NM_004817:c.3499C>T
chr9:71869216:C>T
NM_004817:p.Arg1167Leu
NM_004817:c.3500G>T
chr9:71869217:G>T
NM_004817:p.Arg1176Arg
NM_004817:c.3528C>T
chr9:71869245:C>T
NM_004817:p.Gly1177Ser
NM_004817:c.3529G>A
chr9:71869246:G>A
NM_004817:p.Arg1186Trp
NM_004817:c.3556C>T
chr9:71869273:C>T
NM_004817:p.Arg1186Gln
NM_004817:c.3557G>A
chr9:71869274:G>A
NM_004817:p.Arg1186Arg
NM_004817:c.3558G>T
chr9:71869275:G>T
NM_004817:p.Thr1188Ala
NM_004817:c.3562A>G
chr9:71869279:A>G
NM_138691:c.-2G>A
chr9:75263563:G>A
NM_138691:p.Lys4Arg
NM_138691:c.11A>G
chr9:75263575:A>G
NM_138691:c.16+4T>C
chr9:75263584:T>C
NM_138691:c.17-9C>T
chr9:75303616:C>T
NM_138691:p.Ile8Asn
NM_138691:c.23T>A
chr9:75303631:T>A
NM_138691:p.Asp15Asp
NM_138691:c.45C>T
chr9:75303653:C>T
NM_138691:p.Glu15Glu
NM_138691:c.45G>A
chr9:75303653:G>A
NM_138691:p.Glu16Lys
NM_138691:c.46G>A
chr9:75303654:G>A
NM_138691:p.Ser20Thr
NM_138691:c.59G>C
chr9:75303667:G>C
NM_138691:p.Ser22Gly
NM_138691:c.64A>G
chr9:75303672:A>G
NM_138691:c.65-11G>T
chr9:75309448:G>T
NM_138691:c.65-8A>G
chr9:75309451:A>G
NM_138691:p.Asp30Gly
NM_138691:c.89A>G
chr9:75309483:A>G
NM_138691:p.Arg34Stop
NM_138691:c.100C>T
chr9:75309494:C>T
NM_138691:p.Thr45Thr
NM_138691:c.135C>A
chr9:75309529:C>A
NM_138691:p.Asp47Glu
NM_138691:c.141T>A
chr9:75309535:T>A
NM_138691:p.Ile49Leu
NM_138691:c.145A>C
chr9:75309539:A>C
NM_138691:p.Lys65Glu
NM_138691:c.193A>G
chr9:75309587:A>G
NM_138691:p.Ala79Glu
NM_138691:c.236C>A
chr9:75309630:C>A
NM_138691:c.237_239delAGA
chr9:75315434:AGA>-
NM_138691:p.Glu80Lys
NM_138691:c.238G>A
chr9:75315435:G>A
NM_138691:p.Gln81Lys
NM_138691:c.241C>A
chr9:75315438:C>A
NM_138691:p.Glu81Lys
NM_138691:c.241G>A
chr9:75315438:G>A
NM_138691:p.Glu114Glu
NM_138691:c.342G>A
chr9:75315539:G>A
NM_138691:p.Lys121Arg
NM_138691:c.362A>G
chr9:75315559:A>G
NM_138691:p.Ser128Gly
NM_138691:c.382A>G
chr9:75355054:A>G
NM_138691:p.Arg141Arg
NM_138691:c.421C>A
chr9:75355093:C>A
NM_138691:p.Arg141Trp
NM_138691:c.421C>T
chr9:75355093:C>T
NM_138691:c.454-19T>C
chr9:75357341:T>C
NM_138691:p.Ala154Ser
NM_138691:c.460G>T
chr9:75357366:G>T
NM_138691:p.Arg158Cys
NM_138691:c.472C>T
chr9:75357378:C>T
NM_138691:p.Arg158His
NM_138691:c.473G>A
chr9:75357379:G>A
NM_138691:p.Glu161Glu
NM_138691:c.483G>A
chr9:75357389:G>A
NM_138691:p.Ala166Ala
NM_138691:c.498G>A
chr9:75357404:G>A
NM_138691:c.535+20C>T
chr9:75357461:C>T
NM_138691:c.536-15T>C
chr9:75366751:T>C
NM_138691:p.Gly182Asp
NM_138691:c.545G>A
chr9:75366775:G>A
NM_138691:p.Ser183Ser
NM_138691:c.549C>T
chr9:75366779:C>T
NM_138691:p.Met195Ile
NM_138691:c.585G>T
chr9:75366815:G>T
NM_138691:p.Asn199Ser
NM_138691:c.596A>G
chr9:75366826:A>G
NM_138691:p.Val201Val
NM_138691:c.603T>G
chr9:75366833:T>G
NM_138691:p.Leu202Leu
NM_138691:c.606C>G
chr9:75366836:C>G
NM_138691:p.Thr206Thr
NM_138691:c.618A>C
chr9:75366848:A>C
NM_138691:p.Phe207Ile
NM_138691:c.619T>A
chr9:75366849:T>A
NM_138691:p.Ser208Arg
NM_138691:c.624C>A
chr9:75366854:C>A
NM_138691:c.642+5G>T
chr9:75366877:G>T
NM_138691:p.Trp217Cys
NM_138691:c.651G>T
chr9:75369710:G>T
NM_138691:p.Pro225Leu
NM_138691:c.674C>T
chr9:75369733:C>T
NM_138691:p.Val229Ile
NM_138691:c.685G>A
chr9:75369744:G>A
NM_138691:p.Ala232Ala
NM_138691:c.696C>T
chr9:75369755:C>T
NM_138691:p.Glu233Lys
NM_138691:c.697G>A
chr9:75369756:G>A
NM_138691:p.Ala235Ser
NM_138691:c.703G>T
chr9:75369762:G>T
NM_138691:p.Asp245Asp
NM_138691:c.735C>T
chr9:75369794:C>T
NM_138691:c.742-20G>T
chr9:75387309:G>T
NM_138691:c.742-14T>C
chr9:75387315:T>C
NM_138691:p.Ser253Ser
NM_138691:c.759C>T
chr9:75387346:C>T
NM_138691:p.Val254Ile
NM_138691:c.760G>A
chr9:75387347:G>A
NM_138691:p.Val254Ala
NM_138691:c.761T>C
chr9:75387348:T>C
NM_138691:p.Leu255Leu
NM_138691:c.765C>T
chr9:75387352:C>T
NM_138691:p.Tyr259Cys
NM_138691:c.776A>G
chr9:75387363:A>G
NM_138691:p.Tyr259Stop
NM_138691:c.777T>A
chr9:75387364:T>A
NM_138691:p.Asp261Tyr
NM_138691:c.781G>T
chr9:75387368:G>T
NM_138691:p.Arg264Gln
NM_138691:c.791G>A
chr9:75387378:G>A
NM_138691:p.Thr265Thr
NM_138691:c.795A>C
chr9:75387382:A>C
NM_138691:p.Arg272Gly
NM_138691:c.814A>G
chr9:75387401:A>G
NM_138691:p.Pro274Leu
NM_138691:c.821C>T
chr9:75387408:C>T
NM_138691:p.Pro274Pro
NM_138691:c.822G>A
chr9:75387409:G>A
NM_138691:p.Tyr277Cys
NM_138691:c.830A>G
chr9:75387417:A>G
NM_138691:c.884+15T>C
chr9:75387486:T>C
NM_138691:p.Lys298Arg
NM_138691:c.893A>G
chr9:75403263:A>G
NM_138691:p.Asp303Gly
NM_138691:c.908A>G
chr9:75403278:A>G
NM_138691:p.Asp308Glu
NM_138691:c.924C>G
chr9:75403294:C>G
NM_138691:p.Thr310Ala
NM_138691:c.928A>G
chr9:75403298:A>G
NM_138691:p.Asn312Lys
NM_138691:c.936T>G
chr9:75403306:T>G
NM_138691:p.Thr319Ser
NM_138691:c.956C>G
chr9:75403326:C>G
NM_138691:p.Ser337Tyr
NM_138691:c.1010C>A
chr9:75403380:C>A
NM_138691:p.Met340Thr
NM_138691:c.1019T>C
chr9:75403389:T>C
NM_138691:c.1030-3C>T
chr9:75404036:C>T
NM_138691:p.Val372Met
NM_138691:c.1114G>A
chr9:75404123:G>A
NM_138691:p.Gly380Glu
NM_138691:c.1139G>A
chr9:75404148:G>A
NM_138691:p.Arg389Stop
NM_138691:c.1165C>T
chr9:75404174:C>T
NM_138691:p.Arg389Gln
NM_138691:c.1166G>A
chr9:75404175:G>A
NM_138691:p.Ala394Ser
NM_138691:c.1180G>T
chr9:75404189:G>T
NM_138691:p.Gln395Gln
NM_138691:c.1185G>A
chr9:75404194:G>A
NM_138691:p.Asp397Asn
NM_138691:c.1189G>A
chr9:75404198:G>A
NM_138691:c.1225-8C>T
chr9:75406794:C>T
NM_138691:p.Met411Ile
NM_138691:c.1233G>A
chr9:75406810:G>A
NM_138691:p.Ser414Ser
NM_138691:c.1242C>T
chr9:75406819:C>T
NM_138691:p.Pro421Pro
NM_138691:c.1263A>G
chr9:75406840:A>G
NM_138691:p.His434Pro
NM_138691:c.1301A>C
chr9:75406878:A>C
NM_138691:p.Leu443Leu
NM_138691:c.1329G>A
chr9:75406906:G>A
NM_138691:p.Gly444Arg
NM_138691:c.1330G>A
chr9:75406907:G>A
NM_138691:p.Arg445Cys
NM_138691:c.1333C>T
chr9:75406910:C>T
NM_138691:p.Arg445His
NM_138691:c.1334G>A
chr9:75406911:G>A
NM_138691:c.1404+16G>A
chr9:75406997:G>A
NM_138691:p.Lys473Asn
NM_138691:c.1419G>C
chr9:75407121:G>C
NM_138691:p.Lys476Lys
NM_138691:c.1428G>A
chr9:75407130:G>A
NM_138691:p.Met486Thr
NM_138691:c.1457T>C
chr9:75407159:T>C
NM_138691:p.Ala489Val
NM_138691:c.1466C>T
chr9:75407168:C>T
NM_138691:p.Arg512Stop
NM_138691:c.1534C>T
chr9:75407236:C>T
NM_138691:p.Pro514Leu
NM_138691:c.1541C>T
chr9:75407243:C>T
NM_138691:p.Cys515Arg
NM_138691:c.1543T>C
chr9:75407245:T>C
NM_138691:p.Gly521Val
NM_138691:c.1562G>T
chr9:75407264:G>T
NM_138691:p.Gln522Gln
NM_138691:c.1566G>A
chr9:75407268:G>A
NM_138691:c.1566+8C>T
chr9:75407276:C>T
NM_138691:c.1566+19G>T
chr9:75407287:G>T
NM_138691:c.1567-20T>C
chr9:75420278:T>C
NM_138691:c.1567-4A>G
chr9:75420294:A>G
NM_138691:p.Thr534Thr
NM_138691:c.1602C>G
chr9:75420333:C>G
NM_138691:p.Val537Ile
NM_138691:c.1609G>A
chr9:75420340:G>A
NM_138691:p.Leu540Leu
NM_138691:c.1620C>T
chr9:75420351:C>T
NM_138691:p.Ile541Thr
NM_138691:c.1622T>C
chr9:75420353:T>C
NM_138691:p.Val550Leu
NM_138691:c.1648G>T
chr9:75420379:G>T
NM_138691:c.1696-17C>T
chr9:75431042:C>T
NM_138691:c.1696-14T>C
chr9:75431045:T>C
NM_138691:c.1696-14_1696-13delTG
chr9:75431045:TG>-
NM_138691:p.Thr569Ala
NM_138691:c.1705A>G
chr9:75431068:A>G
NM_138691:p.Glu570Lys
NM_138691:c.1708G>A
chr9:75431071:G>A
NM_138691:p.Phe571Phe
NM_138691:c.1713C>T
chr9:75431076:C>T
NM_138691:p.Asp572Asn
NM_138691:c.1714G>A
chr9:75431077:G>A
NM_138691:p.Asp572His
NM_138691:c.1714G>C
chr9:75431077:G>C
NM_138691:p.Leu578Leu
NM_138691:c.1734C>T
chr9:75431097:C>T
NM_138691:p.Gln584Arg
NM_138691:c.1751A>G
chr9:75431114:A>G
NM_138691:c.1763+3A>G
chr9:75431129:A>G
NM_138691:c.1763+20G>A
chr9:75431146:G>A
NM_138691:c.1764-5T>C
chr9:75435753:T>C
NM_138691:p.Arg588Arg
NM_138691:c.1764G>A
chr9:75435758:G>A
NM_138691:p.Ile600Val
NM_138691:c.1798A>G
chr9:75435792:A>G
NM_138691:p.Arg604Stop
NM_138691:c.1810C>T
chr9:75435804:C>T
NM_138691:p.Val616Ile
NM_138691:c.1846G>A
chr9:75435840:G>A
NM_138691:p.Gly638Gly
NM_138691:c.1914C>A
chr9:75435908:C>A
NM_138691:p.Ser647Pro
NM_138691:c.1939T>C
chr9:75435933:T>C
NM_138691:p.Met654Val
NM_138691:c.1960A>G
chr9:75435954:A>G
NM_138691:p.Ile655Ile
NM_138691:c.1965C>T
chr9:75435959:C>T
NM_138691:p.Val656Met
NM_138691:c.1966G>A
chr9:75435960:G>A
NM_138691:p.Ser668Arg
NM_138691:c.2004T>A
chr9:75441785:T>A
NM_138691:p.Ile677Thr
NM_138691:c.2030T>C
chr9:75441811:T>C
NM_138691:p.Glu679Lys
NM_138691:c.2035G>A
chr9:75441816:G>A
NM_138691:p.Glu682Gln
NM_138691:c.2044G>C
chr9:75441825:G>C
NM_138691:p.His683His
NM_138691:c.2049C>T
chr9:75441830:C>T
NM_138691:p.Ala690Val
NM_138691:c.2069C>T
chr9:75441850:C>T
NM_138691:p.Ala690Ala
NM_138691:c.2070G>A
chr9:75441851:G>A
NM_138691:p.Ala704Gly
NM_138691:c.2111C>G
chr9:75441892:C>G
NM_138691:p.Tyr715Phe
NM_138691:c.2144A>T
chr9:75445381:A>T
NM_138691:p.Lys732Asn
NM_138691:c.2196G>C
chr9:75445433:G>C
NM_138691:p.Met734Lys
NM_138691:c.2201T>A
chr9:75445438:T>A
NM_138691:p.Met734Thr
NM_138691:c.2201T>C
chr9:75445438:T>C
NM_138691:c.2208+17T>C
chr9:75445462:T>C
NM_138691:p.Ala738Ala
NM_138691:c.2214T>C
chr9:75445552:T>C
NM_138691:p.Arg744Stop
NM_138691:c.2230C>T
chr9:75445568:C>T
NM_138691:p.Ala749Ser
NM_138691:c.2245G>T
chr9:75445583:G>T
NM_138691:p.Arg752Stop
NM_138691:c.2254C>T
chr9:75445592:C>T
NM_138691:p.Arg752Gln
NM_138691:c.2255G>A
chr9:75445593:G>A
NM_138691:c.2260+3_2260+5delTGG
chr9:75445601:TGG>-
NM_138691:c.2260+5G>A
chr9:75445603:G>A
NM_138691:c.2261-17_2261-15delTTC
chr9:75450850:TTC>-
NM_138691:c.2261-16_2261-15delTC
chr9:75450851:TC>-
NM_138691:c.2261-15delC
chr9:75450852:C>-
NM_138691:c.2261-15C>T
chr9:75450852:C>T
NM_138691:c.2261-13delG
chr9:75450854:G>-
NM_138691:c.2261-13G>T
chr9:75450854:G>T
NM_138691:p.Arg759Cys
NM_138691:c.2275C>T
chr9:75450881:C>T
NM_147196:p.Gly19Glu
NM_147196:c.56G>A
chr3:46743033:G>A
NM_147196:p.Val20Glu
NM_147196:c.59T>A
chr3:46743036:T>A
NM_147196:p.Glu31Gly
NM_147196:c.92A>G
chr3:46743069:A>G
NM_147196:p.Thr34Thr
NM_147196:c.102G>A
chr3:46747288:G>A
NM_147196:p.Ala35Gly
NM_147196:c.104C>G
chr3:46747290:C>G
NM_147196:p.Pro41Leu
NM_147196:c.122C>T
chr3:46747308:C>T
NM_147196:p.Arg55Arg
NM_147196:c.165C>T
chr3:46747351:C>T
NM_147196:p.Trp57Stop
NM_147196:c.170G>A
chr3:46747356:G>A
NM_147196:c.171G>A
chr3:46747357:G>A
NM_147196:p.His58His
NM_147196:c.174C>T
chr3:46747360:C>T
NM_147196:p.Val59Met
NM_147196:c.175G>A
chr3:46747361:G>A
NM_147196:p.Ser64Leu
NM_147196:c.191C>T
chr3:46747377:C>T
NM_147196:p.Ser64Ser
NM_147196:c.192G>A
chr3:46747378:G>A
NM_147196:p.Phe66Phe
NM_147196:c.198C>T
chr3:46747384:C>T
NM_147196:p.Val67Met
NM_147196:c.199G>A
chr3:46747385:G>A
NM_147196:p.Ser69Phe
NM_147196:c.206C>T
chr3:46747392:C>T
NM_147196:c.211+1G>C
chr3:46747398:G>C
NM_147196:c.211+5G>A
chr3:46747402:G>A
NM_147196:p.Thr73Thr
NM_147196:c.219G>A
chr3:46750623:G>A
NM_147196:p.Cys76Tyr
NM_147196:c.227G>A
chr3:46750631:G>A
NM_147196:p.Arg81Cys
NM_147196:c.241C>T
chr3:46750645:C>T
NM_147196:p.Arg81His
NM_147196:c.242G>A
chr3:46750646:G>A
NM_147196:p.Arg84Trp
NM_147196:c.250C>T
chr3:46750654:C>T
NM_147196:p.Thr85Pro
NM_147196:c.253A>C
chr3:46750657:A>C
NM_147196:p.Arg86Gln
NM_147196:c.257G>A
chr3:46750661:G>A
NM_147196:p.Arg92Trp
NM_147196:c.274C>T
chr3:46750678:C>T
NM_147196:p.Pro111His
NM_147196:c.332C>A
chr3:46750736:C>A
NM_147196:p.Glu114Gln
NM_147196:c.340G>C
chr3:46750744:G>C
NM_147196:c.361+11C>T
chr3:46750776:C>T
NM_147196:c.362-20C>T
chr3:46751049:C>T
NM_147196:c.365_367delATA
chr3:46751072:ATA>-
NM_147196:c.367delA
chr3:46751074:A>-
NM_147196:c.367_369delAAG
chr3:46751074:AAG>-
NM_147196:c.368_370delAGA
chr3:46751075:AGA>-
NM_147196:p.Lys123Asn
NM_147196:c.369G>T
chr3:46751076:G>T
NM_147196:c.376_377delAA
chr3:46751083:AA>-
NM_147196:c.383_384delAG
chr3:46751090:AG>-
NM_147196:c.388_389delAA
chr3:46751095:AA>-
NM_147196:c.389_390delAG
chr3:46751096:AG>-
NM_147196:c.390delG
chr3:46751097:G>-
NM_147196:p.Lys131Glu
NM_147196:c.391A>G
chr3:46751098:A>G
NM_147196:c.392_393delAG
chr3:46751099:AG>-
NM_147196:p.Lys131Lys
NM_147196:c.393G>A
chr3:46751100:G>A
NM_147196:p.Lys131Asn
NM_147196:c.393G>C
chr3:46751100:G>C
NM_147196:p.Asp132Asn
NM_147196:c.394G>A
chr3:46751101:G>A
NM_147196:p.Asp132Gly
NM_147196:c.395A>G
chr3:46751102:A>G
NM_147196:p.Lys140Glu
NM_147196:c.418A>G
chr3:46751125:A>G
NM_147196:p.Lys140Arg
NM_147196:c.419A>G
chr3:46751126:A>G
NM_147196:p.Glu143Val
NM_147196:c.428A>T
chr3:46751135:A>T
NM_024022:c.*9G>C
chr21:43792862:C>G
NM_024022:c.*2G>A
chr21:43792869:C>T
NM_024022:p.Stop455Arg
NM_024022:c.1363T>C
chr21:43792873:A>G
NM_024022:c.1348-6T>G
chr21:43792894:A>C
NM_024022:c.1348-19C>G
chr21:43792907:G>C
NM_024022:c.1347+11C>T
chr21:43795814:G>A
NM_024022:c.1347+9G>A
chr21:43795816:C>T
NM_024022:c.1347+8C>T
chr21:43795817:G>A
NM_024022:p.Met448Thr
NM_024022:c.1343T>C
chr21:43795829:A>G
NM_024022:p.Gln447Glu
NM_024022:c.1339C>G
chr21:43795833:G>C
NM_024022:p.His445His
NM_024022:c.1335C>T
chr21:43795837:G>A
NM_024022:p.Val437Ile
NM_024022:c.1309G>A
chr21:43795863:C>T
NM_024022:p.Thr435Ile
NM_024022:c.1304C>T
chr21:43795868:G>A
NM_024022:p.Gly432Gly
NM_024022:c.1296G>C
chr21:43795876:C>G
NM_024022:p.Asn429Ser
NM_024022:c.1286A>G
chr21:43795886:T>C
NM_024022:p.Ala426Thr
NM_024022:c.1276G>A
chr21:43795896:C>T
NM_024022:p.Cys425Cys
NM_024022:c.1275C>T
chr21:43795897:G>A
NM_024022:p.Ile423Ile
NM_024022:c.1269C>T
chr21:43795903:G>A
NM_024022:p.Gly422Gly
NM_024022:c.1266C>T
chr21:43795906:G>A
NM_024022:p.Ala418Val
NM_024022:c.1253C>T
chr21:43795919:G>A
NM_024022.2:p.Cys407Arg
NM_024022.2:c.1219T>C
chr21:43795953:A>G
NM_024022.2:p.Pro404Leu
NM_024022.2:c.1211C>T
chr21:43795961:G>A
NM_024022:c.1194+15C>A
chr21:43796635:G>T
NM_024022:c.1194+10C>T
chr21:43796640:G>A
NM_024022:c.1194+4C>G
chr21:43796646:G>C
NM_024022.2:p.Gln398Stop
NM_024022.2:c.1192C>T
chr21:43796652:G>A
NM_024022:p.Asp395His
NM_024022:c.1183G>C
chr21:43796661:C>G
NM_024022:p.Val394Met
NM_024022:c.1180G>A
chr21:43796664:C>T
NM_024022:p.Thr391Thr
NM_024022:c.1173G>A
chr21:43796671:C>T
NM_024022:p.Thr391Met
NM_024022:c.1172C>T
chr21:43796672:G>A
NM_024022:p.Leu390Leu
NM_024022:c.1170G>C
chr21:43796674:C>G
NM_024022:p.Leu390Met
NM_024022:c.1168C>A
chr21:43796676:G>T
NM_024022:p.Ala387Val
NM_024022:c.1160C>T
chr21:43796684:G>A
NM_024022:c.1151delT
chr21:43796693:A>-
NM_024022:c.1149_1153delTCC
chr21:43796695:GGA>-
NM_024022:p.Gly377Ser
NM_024022:c.1129G>A
chr21:43796715:C>T
NM_024022:p.Tyr376Tyr
NM_024022:c.1128C>T
chr21:43796716:G>A
NM_024022:p.Asp374Asp
NM_024022:c.1122C>T
chr21:43796722:G>A
NM_024022:p.His372His
NM_024022:c.1116C>T
chr21:43796728:G>A
NM_024022:p.Ala360Val
NM_024022:c.1079C>T
chr21:43796765:G>A
NM_024022:p.His359Tyr
NM_024022:c.1075C>T
chr21:43796769:G>A
NM_024022:p.Ser354Ser
NM_024022:c.1062C>G
chr21:43796782:G>C
NM_024022:p.Ala353Thr
NM_024022:c.1057G>A
chr21:43796787:C>T
NM_024022:p.Gly350Ser
NM_024022:c.1048G>A
chr21:43800226:C>T
NM_024022:p.Asp348Asn
NM_024022:c.1042G>A
chr21:43800232:C>T
NM_024022:p.Thr346Thr
NM_024022:c.1038A>T
chr21:43800236:T>A
NM_024022:p.Thr340Met
NM_024022:c.1019C>T
chr21:43800255:G>A
NM_024022:p.Gly335Ala
NM_024022:c.1004G>C
chr21:43800270:C>G
NM_024022:p.Asp334Glu
NM_024022:c.1002T>A
chr21:43800272:A>T
NM_024022:p.Pro333Pro
NM_024022:c.999C>T
chr21:43800275:G>A
NM_024022:p.Pro333Leu
NM_024022:c.998C>T
chr21:43800276:G>A
NM_024022:p.Leu325Leu
NM_024022:c.973C>T
chr21:43800301:G>A
NM_024022:p.Val323Val
NM_024022:c.969G>T
chr21:43800305:C>A
NM_024022:p.Ile320Ile
NM_024022:c.960C>T
chr21:43800314:G>A
NM_024022:p.Met319Ile
NM_024022:c.957G>C
chr21:43800317:C>G
NM_024022:c.953-18T>C
chr21:43800339:A>G
NM_032405:p.Ala342Ala
NM_032405:c.1026A>G
chr21:43802100:T>C
NM_032405:p.Leu323Leu
NM_032405:c.969A>G
chr21:43802157:T>C
NM_024022:p.Ala311Ala
NM_024022:c.933C>T
chr21:43802193:G>A
NM_024022.2:p.Ala306Thr
NM_024022.2:c.916G>A
chr21:43802210:C>T
NM_024022:p.Leu286Met
NM_024022:c.856T>A
chr21:43802270:A>T
NM_024022:p.Ser284Phe
NM_024022:c.851C>T
chr21:43802275:G>A
NM_024022:p.Leu277Leu
NM_024022:c.831G>C
chr21:43802295:C>G
NM_024022:p.Gln271Lys
NM_024022:c.811C>A
chr21:43802315:G>T
NM_024022:p.Ile270Ile
NM_024022:c.810C>A
chr21:43802316:G>T
NM_024022:p.Ser267Ser
NM_024022:c.801A>G
chr21:43802325:T>C
NM_024022:p.Tyr263Tyr
NM_024022:c.789C>T
chr21:43802337:G>A
NM_024022:p.Leu262Phe
NM_024022:c.786G>C
chr21:43802340:C>G
NM_024022:c.783-13C>A
chr21:43802356:G>T
NM_024022:c.783-16G>A
chr21:43802359:C>T
NM_024022:p.Ile253Val
NM_024022:c.757A>G
chr21:43803167:T>C
NM_024022:p.Ile252Val
NM_024022:c.754A>G
chr21:43803170:T>C
NM_024022.2:p.Trp251Cys
NM_024022.2:c.753G>C
chr21:43803171:C>G
NM_024022:p.Pro249Ser
NM_024022:c.745C>T
chr21:43803179:G>A
NM_024022:p.Thr248Thr
NM_024022:c.744G>A
chr21:43803180:C>T
NM_024022:p.Gly243Arg
NM_024022:c.727G>A
chr21:43803197:C>T
NM_024022:p.Tyr239His
NM_024022:c.715T>C
chr21:43803209:A>G
NM_024022:p.Gln235His
NM_024022:c.705G>C
chr21:43803219:C>G
NM_024022:p.Gln227Gln
NM_024022:c.681G>A
chr21:43803243:C>T
NM_024022:p.Ser223Ser
NM_024022:c.669C>T
chr21:43803255:G>A
NM_024022:p.Met222Ile
NM_024022:c.666G>A
chr21:43803258:C>T
NM_024022:p.Ile217Ile
NM_024022:c.651C>T
chr21:43803273:G>A
NM_024022.2:p.Arg216Leu
NM_024022.2:c.647G>T
chr21:43803277:C>A
NM_024022:p.Arg216His
NM_024022:c.647G>A
chr21:43803277:C>T
NM_024022.2:p.Arg216Cys
NM_024022.2:c.646C>T
chr21:43803278:G>A
NM_024022:p.Ser214Gly
NM_024022:c.640A>G
chr21:43803284:T>C
NM_024022:c.617-18C>T
chr21:43803325:G>A
NM_024022:c.616+13G>C
chr21:43804066:C>G
NM_024022:c.616+5G>A
chr21:43804074:C>T
NM_024022:p.Gln203Lys
NM_024022:c.607C>A
chr21:43804088:G>T
NM_024022:p.His198Arg
NM_024022:c.593A>G
chr21:43804102:T>C
NM_024022:p.Gly197Arg
NM_024022:c.589G>C
chr21:43804106:C>G
NM_024022.2:p.Cys194Stop
NM_024022.2:c.582T>A
chr21:43804113:A>T
NM_024022.2:p.Cys194Phe
NM_024022.2:c.581G>T
chr21:43804114:C>A
NM_024022:c.573-17C>A
chr21:43804139:G>T
NM_024022:p.Val181Met
NM_024022:c.541G>A
chr21:43805549:C>T
NM_024022:p.Lys180Lys
NM_024022:c.540G>A
chr21:43805550:C>T
NM_024022:p.Ile172Ile
NM_024022:c.516C>T
chr21:43805574:G>A
NM_024022:p.Arg166Leu
NM_024022:c.497G>T
chr21:43805593:C>A
NM_024022:p.Ser160Ser
NM_024022:c.480G>C
chr21:43805610:C>G
NM_024022:p.Leu156Phe
NM_024022:c.466C>T
chr21:43805624:G>A
NM_024022:p.Val151Val
NM_024022:c.453G>T
chr21:43805637:C>A
NM_024022:c.453G>C
chr21:43805637:C>G
NM_024022:c.453G>A
chr21:43805637:C>T
NM_024022:p.Val151Glu
NM_024022:c.452T>A
chr21:43805638:A>T
NM_024022:p.Val151Leu
NM_024022:c.451G>C
chr21:43805639:C>G
NM_024022:p.Tyr150Cys
NM_024022:c.449A>G
chr21:43805641:T>C
NM_024022:c.447-13A>G
chr21:43805656:T>C
NM_024022:c.447-16T>C
chr21:43805659:A>G
NM_024022:c.446+9A>G
chr21:43808503:T>C
NM_024022:c.446+4A>T
chr21:43808508:T>A
NM_024022:p.Gly146Asp
NM_024022:c.437G>A
chr21:43808521:C>T
NM_024022:p.Gln144Gln
NM_024022:c.432A>G
chr21:43808526:T>C
NM_024022.2:p.Ala138Glu
NM_024022.2:c.413C>A
chr21:43808545:G>T
NM_024022:p.Ala138Thr
NM_024022:c.412G>A
chr21:43808546:C>T
NM_024022:p.Tyr137Tyr
NM_024022:c.411C>T
chr21:43808547:G>A
NM_024022:p.Lys134Thr
NM_024022:c.401A>C
chr21:43808557:T>G
NM_024022:p.Asp131Asn
NM_024022:c.391G>A
chr21:43808567:C>T
NM_024022:p.Ser124Ser
NM_024022:c.372G>T
chr21:43808586:C>A
NM_024022:c.372G>A
chr21:43808586:C>T
NM_024022:p.Val116Ala
NM_024022:c.347T>C
chr21:43808611:A>G
NM_024022:p.Val116Met
NM_024022:c.346G>A
chr21:43808612:C>T
NM_024022:p.Ala115Ala
NM_024022:c.345C>T
chr21:43808613:G>A
NM_024022:p.Gly111Ser
NM_024022:c.331G>A
chr21:43808627:C>T
NM_024022:p.Arg109Gln
NM_024022:c.326G>A
chr21:43808632:C>T
NM_024022.2:p.Arg109Trp
NM_024022.2:c.325C>T
chr21:43808633:G>A
NM_024022:c.323-6G>A
chr21:43808641:C>T
NM_024022:c.323-8T>C
chr21:43808643:A>G
NM_024022:c.323-13G>A
chr21:43808648:C>T
NM_024022:c.322+10T>C
chr21:43809028:A>G
NM_024022:p.Arg106His
NM_024022:c.317G>A
chr21:43809043:C>T
NM_024022:p.Arg106Cys
NM_024022:c.316C>T
chr21:43809044:G>A
NM_024022:p.Glu104Lys
NM_024022:c.310G>A
chr21:43809050:C>T
NM_024022:p.Asp103Asp
NM_024022:c.309C>T
chr21:43809051:G>A
NM_024022.2:p.Asp103Gly
NM_024022.2:c.308A>G
chr21:43809052:T>C
NM_024022:p.Asp100Asp
NM_024022:c.300C>T
chr21:43809060:G>A
NM_024022:p.Ser96Leu
NM_024022:c.287C>T
chr21:43809073:G>A
NM_024022:p.Gly94Gly
NM_024022:c.282A>G
chr21:43809078:T>C
NM_024022:p.Gly94Arg
NM_024022:c.280G>A
chr21:43809080:C>T
NM_024022:p.Asp93Asp
NM_024022:c.279C>T
chr21:43809081:G>A
NM_024022:p.Arg91Stop
NM_024022:c.271C>T
chr21:43809089:G>A
NM_024022.2:p.Ala90Thr
NM_024022.2:c.268G>A
chr21:43809092:C>T
NM_024022:p.Ile86Ile
NM_024022:c.258C>T
chr21:43809102:G>A
NM_024022:p.Arg80Leu
NM_024022:c.239G>T
chr21:43809121:C>A
NM_024022:p.Arg80His
NM_024022:c.239G>A
chr21:43809121:C>T
NM_024022:p.Arg80Cys
NM_024022:c.238C>T
chr21:43809122:G>A
NM_024022:p.Arg80Ser
NM_024022:c.238C>A
chr21:43809122:G>T
NM_024022:p.Tyr77Tyr
NM_024022:c.231C>T
chr21:43809129:G>A
NM_024022:p.Phe71Phe
NM_024022:c.213C>T
chr21:43809147:G>A
NM_024022:p.Phe71Ser
NM_024022:c.212T>C
chr21:43809148:A>G
NM_024022:c.205+20T>C
chr21:43810016:A>G
NM_024022:p.Ile54Thr
NM_024022:c.161T>C
chr21:43810080:A>G
NM_024022:p.Val53Ile
NM_024022:c.157G>A
chr21:43810084:C>T
NM_024022:p.Ile52Ile
NM_024022:c.156C>T
chr21:43810085:G>A
NM_024022:p.Pro45Pro
NM_024022:c.135A>G
chr21:43810106:T>C
NM_024022:p.Leu41Leu
NM_024022:c.123G>T
chr21:43810118:C>A
NM_024022:p.Asp34Val
NM_024022:c.101A>T
chr21:43810140:T>A
NM_024022:c.95-18C>T
chr21:43810164:G>A
NM_024022:c.94+15G>A
chr21:43815418:C>T
NM_024022:p.Pro28His
NM_024022:c.83C>A
chr21:43815444:G>T
NM_024022:p.Leu18Ile
NM_024022:c.52C>A
chr21:43815475:G>T
NM_024022:p.Ser17Ser
NM_024022:c.51G>A
chr21:43815476:C>T
NM_024022:p.Arg16Gln
NM_024022:c.47G>A
chr21:43815480:C>T
NM_024022:p.Phe13Leu
NM_024022:c.39C>G
chr21:43815488:G>C
NM_024022:p.Ala11Ala
NM_024022:c.33C>T
chr21:43815494:G>A
NM_024022:p.Ala11Asp
NM_024022:c.32C>A
chr21:43815495:G>T
NM_024022:p.Val9Leu
NM_024022:c.25G>C
chr21:43815502:C>G
NM_024022:p.Pro7Pro
NM_024022:c.21T>A
chr21:43815506:A>T
NM_024022:p.Pro6Pro
NM_024022:c.18G>A
chr21:43815509:C>T
NM_024022:p.Pro6Leu
NM_024022:c.17C>T
chr21:43815510:G>A
NM_173691:p.Leu676Leu
NM_173691:c.2028G>T
chr9:140086573:C>A
NM_173691:p.Glu673Lys
NM_173691:c.2017G>A
chr9:140086584:C>T
NM_173691:p.Ser672Ser
NM_173691:c.2016C>T
chr9:140086585:G>A
NM_173691:p.Arg671His
NM_173691:c.2012G>A
chr9:140086589:C>T
NM_173691:p.Ser668Leu
NM_173691:c.2003C>T
chr9:140086598:G>A
NM_173691:p.Leu667Pro
NM_173691:c.2000T>C
chr9:140086601:A>G
NM_173691:p.Pro661Pro
NM_173691:c.1983C>T
chr9:140086618:G>A
NM_173691:p.Gly634Arg
NM_173691:c.1900G>C
chr9:140086701:C>G
NM_173691:p.Cys633Arg
NM_173691:c.1897T>C
chr9:140086704:A>G
NM_173691:p.Pro626Pro
NM_173691:c.1878C>T
chr9:140086723:G>A
NM_173691:p.Pro619Leu
NM_173691:c.1856C>T
chr9:140086745:G>A
NM_173691:p.Gln617Arg
NM_173691:c.1850A>G
chr9:140086751:T>C
NM_173691:p.Ala614Thr
NM_173691:c.1840G>A
chr9:140086761:C>T
NM_173691:p.His603His
NM_173691:c.1809C>T
chr9:140086792:G>A
NM_173691:p.Pro601Pro
NM_173691:c.1803G>A
chr9:140086798:C>T
NM_173691:c.1784-8A>G
chr9:140086825:T>C
NM_173691:c.1783+6T>C
chr9:140086897:A>G
NM_173691:p.Arg588Gln
NM_173691:c.1763G>A
chr9:140086923:C>T
NM_173691:p.Ser586Asn
NM_173691:c.1757G>A
chr9:140086929:C>T
NM_173691:p.Glu585Lys
NM_173691:c.1753G>A
chr9:140086933:C>T
NM_173691:p.Val582Val
NM_173691:c.1746G>A
chr9:140086940:C>T
NM_173691:p.Thr577Thr
NM_173691:c.1731G>C
chr9:140086955:C>G
NM_173691:p.Thr577Met
NM_173691:c.1730C>T
chr9:140086956:G>A
NM_173691:p.Arg575Trp
NM_173691:c.1723C>T
chr9:140086963:G>A
NM_173691:p.Leu571Phe
NM_173691:c.1711C>T
chr9:140086975:G>A
NM_173691:p.Pro568Ala
NM_173691:c.1702C>G
chr9:140086984:G>C
NM_173691:p.Gly563Ser
NM_173691:c.1687G>A
chr9:140086999:C>T
NM_173691:p.Glu557Lys
NM_173691:c.1669G>A
chr9:140087017:C>T
NM_173691:p.Glu554Glu
NM_173691:c.1662A>G
chr9:140087024:T>C
NM_173691:c.1661_1665delGGA
chr9:140087025:TCC>-
NM_173691:c.1660delG
chr9:140087026:C>-
NM_173691:p.Glu552Glu
NM_173691:c.1656G>A
chr9:140087030:C>T
NM_173691:p.Glu552Lys
NM_173691:c.1654G>A
chr9:140087032:C>T
NM_173691:p.Glu549Glu
NM_173691:c.1647G>A
chr9:140087039:C>T
NM_173691:p.Glu548Glu
NM_173691:c.1644G>A
chr9:140087042:C>T
NM_173691:p.Glu547Glu
NM_173691:c.1641G>A
chr9:140087045:C>T
NM_173691:p.Glu541Lys
NM_173691:c.1621G>A
chr9:140087065:C>T
NM_173691:p.Lys522Arg
NM_173691:c.1565A>G
chr9:140087121:T>C
NM_173691:p.Asn520Asn
NM_173691:c.1560C>T
chr9:140087126:G>A
NM_173691:c.1543-7C>T
chr9:140087150:G>A
NM_173691:c.1543-17G>A
chr9:140087160:C>T
NM_173691:c.1543-18C>T
chr9:140087161:G>A
NM_173691:c.1543-20C>T
chr9:140087163:G>A
NM_173691:c.1542+10G>C
chr9:140093429:C>G
NM_173691:c.1542+5G>A
chr9:140093434:C>T
NM_173691:p.Ser510Cys
NM_173691:c.1529C>G
chr9:140093452:G>C
NM_173691:p.Thr506Ile
NM_173691:c.1517C>T
chr9:140093464:G>A
NM_173691:p.Leu505Leu
NM_173691:c.1515C>T
chr9:140093466:G>A
NM_173691:p.Leu505Phe
NM_173691:c.1513C>T
chr9:140093468:G>A
NM_173691:p.Gly496Ser
NM_173691:c.1486G>A
chr9:140093495:C>T
NM_173691:p.Ile494Thr
NM_173691:c.1481T>C
chr9:140093500:A>G
NM_173691:p.Ile491Met
NM_173691:c.1473C>G
chr9:140093508:G>C
NM_173691:p.Ile491Asn
NM_173691:c.1472T>A
chr9:140093509:A>T
NM_173691:p.His489Arg
NM_173691:c.1466A>G
chr9:140093515:T>C
NM_173691:p.Arg484His
NM_173691:c.1451G>A
chr9:140093530:C>T
NM_173691:p.Arg484Cys
NM_173691:c.1450C>T
chr9:140093531:G>A
NM_173691:p.Cys475Cys
NM_173691:c.1425C>T
chr9:140093556:G>A
NM_173691:p.Glu469Lys
NM_173691:c.1405G>A
chr9:140093576:C>T
NM_173691:p.Arg466Trp
NM_173691:c.1396C>T
chr9:140093585:G>A
NM_173691:p.Arg464Trp
NM_173691:c.1390C>T
chr9:140093591:G>A
NM_173691:p.Gln452Gln
NM_173691:c.1356G>A
chr9:140093625:C>T
NM_173691:p.Leu451Leu
NM_173691:c.1353G>C
chr9:140093628:C>G
NM_173691:p.Phe440Phe
NM_173691:c.1320C>T
chr9:140093661:G>A
NM_173691:p.Val429Met
NM_173691:c.1285G>A
chr9:140093696:C>T
NM_173691:p.Gly427Arg
NM_173691:c.1279G>A
chr9:140093702:C>T
NM_173691:p.Pro415Pro
NM_173691:c.1245G>A
chr9:140093736:C>T
NM_173691:p.Leu414Val
NM_173691:c.1240C>G
chr9:140093741:G>C
NM_173691:p.Pro406Arg
NM_173691:c.1217C>G
chr9:140093764:G>C
NM_173691:p.Asp401Glu
NM_173691:c.1203C>A
chr9:140093778:G>T
NM_173691:p.Ile397Ile
NM_173691:c.1191C>T
chr9:140093790:G>A
NM_173691:p.Pro390Leu
NM_173691:c.1169C>T
chr9:140093812:G>A
NM_173691:p.Arg385Pro
NM_173691:c.1154G>C
chr9:140093827:C>G
NM_173691:p.Arg385Trp
NM_173691:c.1153C>T
chr9:140093828:G>A
NM_173691:p.Gly379Gly
NM_173691:c.1137C>G
chr9:140093844:G>C
NM_173691:p.Arg376Ser
NM_173691:c.1128G>C
chr9:140093853:C>G
NM_173691:p.Gly374Gly
NM_173691:c.1122C>T
chr9:140093859:G>A
NM_173691:p.Ser366Leu
NM_173691:c.1097C>T
chr9:140093884:G>A
NM_173691:p.Pro360Ser
NM_173691:c.1078C>T
chr9:140093903:G>A
NM_173691:p.Pro359Leu
NM_173691:c.1076C>T
chr9:140093905:G>A
NM_173691:p.Pro358Pro
NM_173691:c.1074G>A
chr9:140093907:C>T
NM_173691:p.Pro358Leu
NM_173691:c.1073C>T
chr9:140093908:G>A
NM_173691:p.Pro355Pro
NM_173691:c.1065G>A
chr9:140093916:C>T
NM_173691:p.Trp352Stop
NM_173691:c.1056G>A
chr9:140093925:G>A
NM_173691:p.Ala319Ser
NM_173691:c.955G>T
chr9:140094026:C>A
NM_173691:p.Ala317Gly
NM_173691:c.950C>G
chr9:140094031:G>C
NM_173691:p.Leu297Pro
NM_173691:c.890T>C
chr9:140094091:A>G
NM_173691:p.Arg263Cys
NM_173691:c.787C>T
chr9:140094194:G>A
NM_173691:p.Leu262Leu
NM_173691:c.786C>T
chr9:140094195:G>A
NM_173691:p.Ser261Asn
NM_173691:c.782G>A
chr9:140094199:C>T
NM_173691:p.Arg257Trp
NM_173691:c.769C>T
chr9:140094212:G>A
NM_173691:p.Ala256Asp
NM_173691:c.767C>A
chr9:140094214:G>T
NM_173691:p.Phe236Leu
NM_173691:c.708C>G
chr9:140094273:G>C
NM_173691:p.Cys225Cys
NM_173691:c.675C>T
chr9:140094306:G>A
NM_173691:p.Pro220Ala
NM_173691:c.658C>G
chr9:140094323:G>C
NM_173691:c.571delG
chr9:140094410:C>-
NM_173691:p.Asn162Asn
NM_173691:c.486C>T
chr9:140094495:G>A
NM_173691:p.Asn142Asn
NM_173691:c.426C>T
chr9:140094555:G>A
NM_173691:p.Ala126Ser
NM_173691:c.376G>T
chr9:140094605:C>A
NM_173691:p.Pro102Pro
NM_173691:c.306G>C
chr9:140094675:C>G
NM_001039141:p.Leu9Pro
NM_001039141:c.26T>C
chr22:38097398:T>C
NM_001039141:p.Arg22Cys
NM_001039141:c.64C>T
chr22:38097436:C>T
NM_001039141:p.Asn25Lys
NM_001039141:c.75C>A
chr22:38097447:C>A
NM_001039141:c.114+6C>T
chr22:38097492:C>T
NM_001039141:c.114+16A>G
chr22:38097502:A>G
NM_001039141:c.114+18G>A
chr22:38097504:G>A
NM_001039141:p.Gly45Ala
NM_001039141:c.134G>C
chr22:38106453:G>C
NM_001039141:p.Glu47Glu
NM_001039141:c.141G>A
chr22:38106460:G>A
NM_001039141:p.Asp52Asn
NM_001039141:c.154G>A
chr22:38106473:G>A
NM_001039141:p.Arg55Stop
NM_001039141:c.163C>T
chr22:38106482:C>T
NM_001039141:p.Ser65Ser
NM_001039141:c.195C>T
chr22:38106514:C>T
NM_001039141:p.Thr68Ala
NM_001039141:c.202A>G
chr22:38106521:A>G
NM_001039141:p.Gly70Ser
NM_001039141:c.208G>A
chr22:38106527:G>A
NM_001039141:c.255-11T>C
chr22:38109206:T>C
NM_001039141:p.Pro89Ala
NM_001039141:c.265C>G
chr22:38109227:C>G
NM_001039141:p.Pro94Leu
NM_001039141:c.281C>T
chr22:38109243:C>T
NM_001039141:p.Glu96Gly
NM_001039141:c.287A>G
chr22:38109249:A>G
NM_001039141:p.Arg103Lys
NM_001039141:c.308G>A
chr22:38109270:G>A
NM_001039141:p.Arg107Trp
NM_001039141:c.319C>T
chr22:38109281:C>T
NM_001039141:p.Ser121Ser
NM_001039141:c.363C>A
chr22:38109325:C>A
NM_001039141:p.Leu122Ser
NM_001039141:c.365T>C
chr22:38109327:T>C
NM_001039141:p.Ser125Thr
NM_001039141:c.374G>C
chr22:38109336:G>C
NM_001039141:p.Asn127Asn
NM_001039141:c.381C>T
chr22:38109343:C>T
NM_001039141:p.Glu128Asp
NM_001039141:c.384G>C
chr22:38109346:G>C
NM_001039141:p.Gly131Ser
NM_001039141:c.391G>A
chr22:38109353:G>A
NM_001039141:p.Ser137Gly
NM_001039141:c.409A>G
chr22:38109371:A>G
NM_001039141:p.Pro143His
NM_001039141:c.428C>A
chr22:38109390:C>A
NM_001039141:c.456+5G>T
chr22:38109423:G>T
NM_001039141:c.457-15delC
chr22:38111755:C>-
NM_001039141:p.Arg159Lys
NM_001039141:c.476G>A
chr22:38111789:G>A
NM_001039141:p.Arg159Ser
NM_001039141:c.477G>T
chr22:38111790:G>T
NM_001039141:p.Glu161Glu
NM_001039141:c.483G>A
chr22:38111796:G>A
NM_001039141:p.Asp168Glu
NM_001039141:c.504C>A
chr22:38111817:C>A
NM_001039141:p.Pro191Leu
NM_001039141:c.572C>T
chr22:38111885:C>T
NM_001039141:p.Pro191Pro
NM_001039141:c.573G>A
chr22:38111886:G>A
NM_001039141:p.Thr195Ile
NM_001039141:c.584C>T
chr22:38111897:C>T
NM_001039141:p.Arg196Thr
NM_001039141:c.587G>C
chr22:38111900:G>C
NM_001039141:c.628+18G>T
chr22:38111959:G>T
NM_001039141:c.629-6C>T
chr22:38119186:C>T
NM_001039141:p.Thr211Thr
NM_001039141:c.633C>T
chr22:38119196:C>T
NM_001039141:p.Gly212Ser
NM_001039141:c.634G>A
chr22:38119197:G>A
NM_001039141:p.Gly212Gly
NM_001039141:c.636C>T
chr22:38119199:C>T
NM_001039141:p.Gly213Asp
NM_001039141:c.638G>A
chr22:38119201:G>A
NM_001039141:p.Gly215Asp
NM_001039141:c.644G>A
chr22:38119207:G>A
NM_001039141:p.Arg216Trp
NM_001039141:c.646C>T
chr22:38119209:C>T
NM_001039141:c.650delG
chr22:38119213:G>-
NM_001039141:p.Ser217Asn
NM_001039141:c.650G>A
chr22:38119213:G>A
NM_001039141:p.Ser217Ser
NM_001039141:c.651C>T
chr22:38119214:C>T
NM_001039141:p.His221Tyr
NM_001039141:c.661C>T
chr22:38119224:C>T
NM_001039141:p.Arg226Trp
NM_001039141:c.676C>T
chr22:38119239:C>T
NM_001039141:p.Ser229Ser
NM_001039141:c.687C>T
chr22:38119250:C>T
NM_001039141:p.Arg235Trp
NM_001039141:c.703C>T
chr22:38119266:C>T
NM_001039141:p.Arg235Gln
NM_001039141:c.704G>A
chr22:38119267:G>A
NM_001039141:p.Arg237Trp
NM_001039141:c.709C>T
chr22:38119272:C>T
NM_001039141:p.Arg237Gln
NM_001039141:c.710G>A
chr22:38119273:G>A
NM_001039141:p.Ser238Ala
NM_001039141:c.712T>G
chr22:38119275:T>G
NM_001039141:p.Ser238Stop
NM_001039141:c.713C>A
chr22:38119276:C>A
NM_001039141:p.Thr256Met
NM_001039141:c.767C>T
chr22:38119330:C>T
NM_001039141:p.Arg264Gly
NM_001039141:c.790A>G
chr22:38119353:A>G
NM_001039141:p.Thr272Lys
NM_001039141:c.815C>A
chr22:38119378:C>A
NM_001039141:p.Arg273Cys
NM_001039141:c.817C>T
chr22:38119380:C>T
NM_001039141:p.Gln286Gln
NM_001039141:c.858A>G
chr22:38119421:A>G
NM_001039141:p.Gln296Gln
NM_001039141:c.888A>G
chr22:38119451:A>G
NM_001039141:p.Gln297Stop
NM_001039141:c.889C>T
chr22:38119452:C>T
NM_001039141:p.Ile299Thr
NM_001039141:c.896T>C
chr22:38119459:T>C
NM_001039141:p.Thr305Pro
NM_001039141:c.913A>C
chr22:38119476:A>C
NM_001039141:p.Thr309Ile
NM_001039141:c.926C>T
chr22:38119489:C>T
NM_001039141:p.Glu317Asp
NM_001039141:c.951G>T
chr22:38119514:G>T
NM_001039141:p.Ala322Ser
NM_001039141:c.964G>T
chr22:38119527:G>T
NM_001039141:p.Ala322Val
NM_001039141:c.965C>T
chr22:38119528:C>T
NM_001039141:p.Gln326Glu
NM_001039141:c.976C>G
chr22:38119539:C>G
NM_001039141:p.Asp328Asn
NM_001039141:c.982G>A
chr22:38119545:G>A
NM_001039141:p.Pro330Ser
NM_001039141:c.988C>T
chr22:38119551:C>T
NM_001039141:p.Asn338Asn
NM_001039141:c.1014C>T
chr22:38119577:C>T
NM_001039141:p.Ala342Thr
NM_001039141:c.1024G>A
chr22:38119587:G>A
NM_001039141:p.Pro345Leu
NM_001039141:c.1034C>T
chr22:38119597:C>T
NM_001039141:p.Arg347Stop
NM_001039141:c.1039C>T
chr22:38119602:C>T
NM_001039141:p.Leu351Val
NM_001039141:c.1051C>G
chr22:38119614:C>G
NM_001039141:p.Ser357Pro
NM_001039141:c.1069T>C
chr22:38119632:T>C
NM_001039141:p.Asn363Asn
NM_001039141:c.1089C>T
chr22:38119652:C>T
NM_001039141:p.Pro378Ser
NM_001039141:c.1132C>T
chr22:38119695:C>T
NM_001039141:p.Pro381Arg
NM_001039141:c.1142C>G
chr22:38119705:C>G
NM_001039141:p.Asp386Asp
NM_001039141:c.1158C>T
chr22:38119721:C>T
NM_001039141:p.Arg395Ser
NM_001039141:c.1185A>C
chr22:38119748:A>C
NM_001039141:c.1191_1193delTCA
chr22:38119754:TCA>-
NM_001039141:c.1192_1194delCAA
chr22:38119755:CAA>-
NM_001039141:p.Gln398Pro
NM_001039141:c.1193A>C
chr22:38119756:A>C
NM_001039141:p.Gln398Arg
NM_001039141:c.1193A>G
chr22:38119756:A>G
NM_001039141:c.1193_1194delAA
chr22:38119756:AA>-
NM_001039141:c.1193_1195delAAC
chr22:38119756:AAC>-
NM_001039141:p.Gln398His
NM_001039141:c.1194A>T
chr22:38119757:A>T
NM_001039141:c.1195delC
chr22:38119758:C>-
NM_001039141:p.Arg399Gln
NM_001039141:c.1196G>A
chr22:38119759:G>A
NM_001039141:c.1206_1229delAACCACTCAACGAGAGAATTCCAG
chr22:38119769:AACCACTCAACGAGAGAATTCCAG>-
NM_001039141:p.Ser405Phe
NM_001039141:c.1214C>T
chr22:38119777:C>T
NM_001039141:p.Arg409Trp
NM_001039141:c.1225C>T
chr22:38119788:C>T
NM_001039141:p.Arg409Gln
NM_001039141:c.1226G>A
chr22:38119789:G>A
NM_001039141:p.Lys413Arg
NM_001039141:c.1238A>G
chr22:38119801:A>G
NM_001039141:p.Ser418Pro
NM_001039141:c.1252T>C
chr22:38119815:T>C
NM_001039141:p.Arg425Gln
NM_001039141:c.1274G>A
chr22:38119837:G>A
NM_001039141:p.Arg425Arg
NM_001039141:c.1275A>G
chr22:38119838:A>G
NM_001039141:p.Asp426Glu
NM_001039141:c.1278C>A
chr22:38119841:C>A
NM_001039141:p.Arg429Arg
NM_001039141:c.1287A>G
chr22:38119850:A>G
NM_001039141:p.Ser431Pro
NM_001039141:c.1291T>C
chr22:38119854:T>C
NM_001039141:p.Cys432Cys
NM_001039141:c.1296C>T
chr22:38119859:C>T
NM_001039141:p.Ala433Val
NM_001039141:c.1298C>T
chr22:38119861:C>T
NM_001039141:p.Arg435Gln
NM_001039141:c.1304G>A
chr22:38119867:G>A
NM_001039141:p.Asp436Asn
NM_001039141:c.1306G>A
chr22:38119869:G>A
NM_001039141:p.Asn437Asp
NM_001039141:c.1309A>G
chr22:38119872:A>G
NM_001039141:c.1319_1321delCCT
chr22:38119882:CCT>-
NM_001039141:p.Ser444Asn
NM_001039141:c.1331G>A
chr22:38119894:G>A
NM_001039141:p.Ser444Ser
NM_001039141:c.1332T>C
chr22:38119895:T>C
NM_001039141:p.Ala446Thr
NM_001039141:c.1336G>A
chr22:38119899:G>A
NM_001039141:p.Ala446Ala
NM_001039141:c.1338T>C
chr22:38119901:T>C
NM_001039141:p.Thr447Thr
NM_001039141:c.1341A>T
chr22:38119904:A>T
NM_001039141:p.Asp449Glu
NM_001039141:c.1347C>G
chr22:38119910:C>G
NM_001039141:p.Asn450Asn
NM_001039141:c.1350C>T
chr22:38119913:C>T
NM_001039141:p.Pro451Ser
NM_001039141:c.1351C>T
chr22:38119914:C>T
NM_001039141:p.Pro451Leu
NM_001039141:c.1352C>T
chr22:38119915:C>T
NM_001039141:p.Pro451Pro
NM_001039141:c.1353C>T
chr22:38119916:C>T
NM_001039141:p.Thr452Arg
NM_001039141:c.1355C>G
chr22:38119918:C>G
NM_001039141:p.Arg462Lys
NM_001039141:c.1385G>A
chr22:38119948:G>A
NM_001039141:p.Arg478Thr
NM_001039141:c.1433G>C
chr22:38119996:G>C
NM_001039141:p.Cys481Cys
NM_001039141:c.1443T>C
chr22:38120006:T>C
NM_001039141:c.1466_1468delCCT
chr22:38120029:CCT>-
NM_001039141:p.Ser493Asn
NM_001039141:c.1478G>A
chr22:38120041:G>A
NM_001039141:p.Thr496Ala
NM_001039141:c.1486A>G
chr22:38120049:A>G
NM_001039141:p.Cys504Cys
NM_001039141:c.1512T>C
chr22:38120075:T>C
NM_001039141:c.1535_1543delCCTCCAGAA
chr22:38120098:CCTCCAGAA>-
NM_001039141:p.Ala531Thr
NM_001039141:c.1591G>A
chr22:38120154:G>A
NM_001039141:p.Ala531Pro
NM_001039141:c.1591G>C
chr22:38120154:G>C
NM_001039141:c.1612_1614delGCC
chr22:38120175:GCC>-
NM_001039141:c.1613delC
chr22:38120176:C>-
NM_001039141:c.1613_1615delCCT
chr22:38120176:CCT>-
NM_001039141:c.1614delC
chr22:38120177:C>-
NM_001039141:c.1616delC
chr22:38120179:C>-
NM_001039141:c.1618_1620delTCT
chr22:38120181:TCT>-
NM_001039141:p.Asn542Ser
NM_001039141:c.1625A>G
chr22:38120188:A>G
NM_001039141:p.Ala544Gly
NM_001039141:c.1631C>G
chr22:38120194:C>G
NM_001039141:p.Ala545Thr
NM_001039141:c.1633G>A
chr22:38120196:G>A
NM_001039141:p.Arg546Gln
NM_001039141:c.1637G>A
chr22:38120200:G>A
NM_001039141:p.Pro549Leu
NM_001039141:c.1646C>T
chr22:38120209:C>T
NM_001039141:p.Arg572Gln
NM_001039141:c.1715G>A
chr22:38120278:G>A
NM_001039141:p.Asp573Asp
NM_001039141:c.1719C>T
chr22:38120282:C>T
NM_001039141:p.Arg576Thr
NM_001039141:c.1727G>C
chr22:38120290:G>C
NM_001039141:p.Cys579Cys
NM_001039141:c.1737T>C
chr22:38120300:T>C
NM_001039141:p.Ala580Ala
NM_001039141:c.1740C>A
chr22:38120303:C>A
NM_001039141:p.Gln581Stop
NM_001039141:c.1741C>T
chr22:38120304:C>T
NM_001039141:p.Arg582Trp
NM_001039141:c.1744C>T
chr22:38120307:C>T
NM_001039141:p.Asn591Ser
NM_001039141:c.1772A>G
chr22:38120335:A>G
NM_001039141:p.Asn591Lys
NM_001039141:c.1773T>A
chr22:38120336:T>A
NM_001039141:p.Thr594Ala
NM_001039141:c.1780A>G
chr22:38120343:A>G
NM_001039141:p.Thr594Ile
NM_001039141:c.1781C>T
chr22:38120344:C>T
NM_001039141:p.Arg595Stop
NM_001039141:c.1783C>T
chr22:38120346:C>T
NM_001039141:p.Thr599Ser
NM_001039141:c.1795A>T
chr22:38120358:A>T
NM_001039141:p.Arg605Trp
NM_001039141:c.1813C>T
chr22:38120376:C>T
NM_001039141:p.Arg605Gln
NM_001039141:c.1814G>A
chr22:38120377:G>A
NM_001039141:p.Pro616Ala
NM_001039141:c.1846C>G
chr22:38120409:C>G
NM_001039141:p.Asn617Ser
NM_001039141:c.1850A>G
chr22:38120413:A>G
NM_001039141:p.Asp622Asp
NM_001039141:c.1866T>C
chr22:38120429:T>C
NM_001039141:p.Ser627Ser
NM_001039141:c.1881C>T
chr22:38120444:C>T
NM_001039141:p.Cys628Cys
NM_001039141:c.1884T>C
chr22:38120447:T>C
NM_001039141:p.Asp632Glu
NM_001039141:c.1896C>G
chr22:38120459:C>G
NM_001039141:p.Arg635Gly
NM_001039141:c.1903A>G
chr22:38120466:A>G
NM_001039141:p.Gln645Stop
NM_001039141:c.1933C>T
chr22:38120496:C>T
NM_001039141:p.Arg649Arg
NM_001039141:c.1947A>G
chr22:38120510:A>G
NM_001039141:p.Arg655Gln
NM_001039141:c.1964G>A
chr22:38120527:G>A
NM_001039141:p.Asp656Asp
NM_001039141:c.1968C>T
chr22:38120531:C>T
NM_001039141:p.Ala660Val
NM_001039141:c.1979C>T
chr22:38120542:C>T
NM_001039141:p.Ala660Ala
NM_001039141:c.1980C>T
chr22:38120543:C>T
NM_001039141:p.Arg665Gly
NM_001039141:c.1993A>G
chr22:38120556:A>G
NM_001039141:p.Arg673Lys
NM_001039141:c.2018G>A
chr22:38120581:G>A
NM_001039141:p.Ser688Asn
NM_001039141:c.2063G>A
chr22:38120626:G>A
NM_001039141:p.Glu694Asp
NM_001039141:c.2082G>C
chr22:38120645:G>C
NM_001039141:p.Asn695Lys
NM_001039141:c.2085C>G
chr22:38120648:C>G
NM_001039141:p.Gln702Arg
NM_001039141:c.2105A>G
chr22:38120668:A>G
NM_001039141:p.Gln702Gln
NM_001039141:c.2106A>G
chr22:38120669:A>G
NM_001039141:p.Asp705Asn
NM_001039141:c.2113G>A
chr22:38120676:G>A
NM_001039141:p.Pro711Pro
NM_001039141:c.2133T>C
chr22:38120696:T>C
NM_001039141:p.Asn712Ser
NM_001039141:c.2135A>G
chr22:38120698:A>G
NM_001039141:p.Thr715Ile
NM_001039141:c.2144C>T
chr22:38120707:C>T
NM_001039141:p.Gln717Glu
NM_001039141:c.2149C>G
chr22:38120712:C>G
NM_001039141:p.Arg726Stop
NM_001039141:c.2176C>T
chr22:38120739:C>T
NM_001039141:p.Arg726Gln
NM_001039141:c.2177G>A
chr22:38120740:G>A
NM_001039141:p.Ser734Phe
NM_001039141:c.2201C>T
chr22:38120764:C>T
NM_001039141:p.Arg735Pro
NM_001039141:c.2204G>C
chr22:38120767:G>C
NM_001039141:p.Pro744Thr
NM_001039141:c.2230C>A
chr22:38120793:C>A
NM_001039141:p.Arg745Lys
NM_001039141:c.2234G>A
chr22:38120797:G>A
NM_001039141:p.Cys748Cys
NM_001039141:c.2244T>C
chr22:38120807:T>C
NM_001039141:p.Ala756Thr
NM_001039141:c.2266G>A
chr22:38120829:G>A
NM_001039141:p.Ser757Phe
NM_001039141:c.2270C>T
chr22:38120833:C>T
NM_001039141:p.Ser757Ser
NM_001039141:c.2271C>G
chr22:38120834:C>G
NM_001039141:p.Gln775Arg
NM_001039141:c.2324A>G
chr22:38120887:A>G
NM_001039141:p.Pro778Ser
NM_001039141:c.2332C>T
chr22:38120895:C>T
NM_001039141:p.Pro778Leu
NM_001039141:c.2333C>T
chr22:38120896:C>T
NM_001039141:p.Pro778Pro
NM_001039141:c.2334C>T
chr22:38120897:C>T
NM_001039141:p.Ser781Ser
NM_001039141:c.2343C>T
chr22:38120906:C>T
NM_001039141:p.Arg788Stop
NM_001039141:c.2362C>T
chr22:38120925:C>T
NM_001039141:p.Cys795Phe
NM_001039141:c.2384G>T
chr22:38120947:G>T
NM_001039141:p.Arg798Trp
NM_001039141:c.2392C>T
chr22:38120955:C>T
NM_001039141:p.Arg798Gln
NM_001039141:c.2393G>A
chr22:38120956:G>A
NM_001039141:p.Gln811Arg
NM_001039141:c.2432A>G
chr22:38120995:A>G
NM_001039141:p.Asn814Thr
NM_001039141:c.2441A>C
chr22:38121004:A>C
NM_001039141:p.Thr817Ser
NM_001039141:c.2450C>G
chr22:38121013:C>G
NM_001039141:p.Cys818Cys
NM_001039141:c.2454T>C
chr22:38121017:T>C
NM_001039141:p.Ile819Thr
NM_001039141:c.2456T>C
chr22:38121019:T>C
NM_001039141:p.Arg825Stop
NM_001039141:c.2473A>T
chr22:38121036:A>T
NM_001039141:p.Ser826Leu
NM_001039141:c.2477C>T
chr22:38121040:C>T
NM_001039141:p.Ser827Tyr
NM_001039141:c.2480C>A
chr22:38121043:C>A
NM_001039141:p.Arg851Gln
NM_001039141:c.2552G>A
chr22:38121115:G>A
NM_001039141:p.Arg853Cys
NM_001039141:c.2557C>T
chr22:38121120:C>T
NM_001039141:p.Ser856Ala
NM_001039141:c.2566T>G
chr22:38121129:T>G
NM_001039141:c.2589delC
chr22:38121152:C>-
NM_001039141:p.Asn863Lys
NM_001039141:c.2589C>A
chr22:38121152:C>A
NM_001039141:p.Gln870Gln
NM_001039141:c.2610A>G
chr22:38121173:A>G
NM_001039141:p.Pro883Pro
NM_001039141:c.2649C>A
chr22:38121212:C>A
NM_001039141:p.Gln888Gln
NM_001039141:c.2664A>G
chr22:38121227:A>G
NM_001039141:p.Arg899Gly
NM_001039141:c.2695C>G
chr22:38121258:C>G
NM_001039141:p.Arg899His
NM_001039141:c.2696G>A
chr22:38121259:G>A
NM_001039141:p.Thr900Ala
NM_001039141:c.2698A>G
chr22:38121261:A>G
NM_001039141:p.Ser908Ser
NM_001039141:c.2724G>A
chr22:38121287:G>A
NM_001039141:p.Gln915Gln
NM_001039141:c.2745G>A
chr22:38121308:G>A
NM_001039141:p.Asp917His
NM_001039141:c.2749G>C
chr22:38121312:G>C
NM_001039141:p.Asp917Ala
NM_001039141:c.2750A>C
chr22:38121313:A>C
NM_001039141:p.Arg926Cys
NM_001039141:c.2776C>T
chr22:38121339:C>T
NM_001039141:p.Arg926His
NM_001039141:c.2777G>A
chr22:38121340:G>A
NM_001039141:p.Ser930Ser
NM_001039141:c.2790C>T
chr22:38121353:C>T
NM_001039141:p.Ile937Ile
NM_001039141:c.2811C>T
chr22:38121374:C>T
NM_001039141:p.Asp945Glu
NM_001039141:c.2835C>G
chr22:38121398:C>G
NM_001039141:p.Arg946Ser
NM_001039141:c.2838G>C
chr22:38121401:G>C
NM_001039141:p.Arg954Arg
NM_001039141:c.2862G>A
chr22:38121425:G>A
NM_001039141:p.Gln957Glu
NM_001039141:c.2869C>G
chr22:38121432:C>G
NM_001039141:p.Arg975Trp
NM_001039141:c.2923C>T
chr22:38121486:C>T
NM_001039141:p.Ser980Phe
NM_001039141:c.2939C>T
chr22:38121502:C>T
NM_001039141:p.His981His
NM_001039141:c.2943T>C
chr22:38121506:T>C
NM_001039141:p.Pro997Pro
NM_001039141:c.2991C>T
chr22:38121554:C>T
NM_001039141:p.Ala998Thr
NM_001039141:c.2992G>A
chr22:38121555:G>A
NM_001039141:p.Gly1001Arg
NM_001039141:c.3001G>A
chr22:38121564:G>A
NM_001039141:p.Pro1003Pro
NM_001039141:c.3009C>T
chr22:38121572:C>T
NM_001039141:p.Gly1019Arg
NM_001039141:c.3055G>A
chr22:38121618:G>A
NM_001039141:p.Gly1019Ala
NM_001039141:c.3056G>C
chr22:38121619:G>C
NM_001039141:p.Arg1021Trp
NM_001039141:c.3061C>T
chr22:38121624:C>T
NM_001039141:p.Asp1022His
NM_001039141:c.3064G>C
chr22:38121627:G>C
NM_001039141:p.Ala1023Val
NM_001039141:c.3068C>T
chr22:38121631:C>T
NM_001039141:p.Arg1025Gln
NM_001039141:c.3074G>A
chr22:38121637:G>A
NM_001039141:p.Pro1030Arg
NM_001039141:c.3089C>G
chr22:38121652:C>G
NM_001039141:p.Arg1031His
NM_001039141:c.3092G>A
chr22:38121655:G>A
NM_001039141:p.Arg1045Cys
NM_001039141:c.3133C>T
chr22:38121696:C>T
NM_001039141:p.Pro1052Pro
NM_001039141:c.3156C>T
chr22:38121719:C>T
NM_001039141:p.His1054His
NM_001039141:c.3162C>T
chr22:38121725:C>T
NM_001039141:p.Ile1065Thr
NM_001039141:c.3194T>C
chr22:38121757:T>C
NM_001039141:p.Gly1066Gly
NM_001039141:c.3198A>G
chr22:38121761:A>G
NM_001039141:p.Arg1068Stop
NM_001039141:c.3202C>T
chr22:38121765:C>T
NM_001039141:p.Arg1068Arg
NM_001039141:c.3204A>G
chr22:38121767:A>G
NM_001039141:p.Pro1071Pro
NM_001039141:c.3213C>T
chr22:38121776:C>T
NM_001039141:p.Arg1072Arg
NM_001039141:c.3216G>A
chr22:38121779:G>A
NM_001039141:p.Ala1073Ala
NM_001039141:c.3219G>A
chr22:38121782:G>A
NM_001039141:c.3219G>C
chr22:38121782:G>C
NM_001039141:p.Ser1074Ser
NM_001039141:c.3222C>T
chr22:38121785:C>T
NM_001039141:p.Ser1075Leu
NM_001039141:c.3224C>T
chr22:38121787:C>T
NM_001039141:p.Ser1075Ser
NM_001039141:c.3225G>C
chr22:38121788:G>C
NM_001039141:p.Pro1077Pro
NM_001039141:c.3231C>T
chr22:38121794:C>T
NM_001039141:p.Arg1078Cys
NM_001039141:c.3232C>T
chr22:38121795:C>T
NM_001039141:p.Arg1078Pro
NM_001039141:c.3233G>C
chr22:38121796:G>C
NM_001039141:c.3240_3246delCCAATTT
chr22:38121803:CCAATTT>-
NM_001039141:p.Gln1081Gln
NM_001039141:c.3243A>G
chr22:38121806:A>G
NM_001039141:p.Phe1082Cys
NM_001039141:c.3245T>G
chr22:38121808:T>G
NM_001039141:p.Pro1084Ser
NM_001039141:c.3250C>T
chr22:38121813:C>T
NM_001039141:p.Ala1094Ala
NM_001039141:c.3282C>T
chr22:38121845:C>T
NM_001039141:p.Ser1100Ser
NM_001039141:c.3300C>T
chr22:38121863:C>T
NM_001039141:p.Pro1101Pro
NM_001039141:c.3303C>G
chr22:38121866:C>G
NM_001039141:p.His1103His
NM_001039141:c.3309C>T
chr22:38121872:C>T
NM_001039141:p.Gln1107Arg
NM_001039141:c.3320A>G
chr22:38121883:A>G
NM_001039141:p.Cys1113Cys
NM_001039141:c.3339T>C
chr22:38121902:T>C
NM_001039141:p.Tyr1116His
NM_001039141:c.3346T>C
chr22:38121909:T>C
NM_001039141:p.Arg1117Stop
NM_001039141:c.3349C>T
chr22:38121912:C>T
NM_001039141:p.Arg1117Arg
NM_001039141:c.3351A>G
chr22:38121914:A>G
NM_001039141:p.Arg1121Trp
NM_001039141:c.3361C>T
chr22:38121924:C>T
NM_001039141:c.3361_3363delCGG
chr22:38121924:CGG>-
NM_001039141:p.Ser1123Ser
NM_001039141:c.3369C>A
chr22:38121932:C>A
NM_001039141:c.3369C>T
chr22:38121932:C>T
NM_001039141:p.Pro1125Leu
NM_001039141:c.3374C>T
chr22:38121937:C>T
NM_001039141:p.Pro1126Ser
NM_001039141:c.3376C>T
chr22:38121939:C>T
NM_001039141:p.Arg1127Cys
NM_001039141:c.3379C>T
chr22:38121942:C>T
NM_001039141:p.Leu1139Ile
NM_001039141:c.3415C>A
chr22:38121978:C>A
NM_001039141:p.Ser1143Ser
NM_001039141:c.3429C>T
chr22:38121992:C>T
NM_001039141:p.Leu1147Phe
NM_001039141:c.3439C>T
chr22:38122002:C>T
NM_001039141:p.Met1151Val
NM_001039141:c.3451A>G
chr22:38122014:A>G
NM_001039141:p.His1155His
NM_001039141:c.3465C>T
chr22:38122028:C>T
NM_001039141:p.Cys1165Cys
NM_001039141:c.3495C>T
chr22:38122058:C>T
NM_001039141:p.His1168Tyr
NM_001039141:c.3502C>T
chr22:38122065:C>T
NM_001039141:p.Arg1169Arg
NM_001039141:c.3507G>A
chr22:38122070:G>A
NM_001039141:p.Ser1173Pro
NM_001039141:c.3517T>C
chr22:38122080:T>C
NM_001039141:p.Ser1173Cys
NM_001039141:c.3518C>G
chr22:38122081:C>G
NM_001039141:p.Ser1173Phe
NM_001039141:c.3518C>T
chr22:38122081:C>T
NM_001039141:p.Ser1173Ser
NM_001039141:c.3519C>G
chr22:38122082:C>G
NM_001039141:p.Phe1174Val
NM_001039141:c.3520T>G
chr22:38122083:T>G
NM_001039141:p.Phe1174Ser
NM_001039141:c.3521T>C
chr22:38122084:T>C
NM_001039141:c.3523_3525delTCA
chr22:38122086:TCA>-
NM_001039141:p.Ser1175Ser
NM_001039141:c.3525A>C
chr22:38122088:A>C
NM_001039141:p.Ala1181Ala
NM_001039141:c.3543T>C
chr22:38122106:T>C
NM_001039141:p.Leu1186Phe
NM_001039141:c.3556C>T
chr22:38122119:C>T
NM_001039141:c.3559delT
chr22:38122122:T>-
NM_001039141:p.Phe1187Leu
NM_001039141:c.3559T>C
chr22:38122122:T>C
NM_001039141:p.Met1196Leu
NM_001039141:c.3586A>T
chr22:38122149:A>T
NM_001039141:p.Thr1203Ala
NM_001039141:c.3607A>G
chr22:38122170:A>G
NM_001039141:p.Leu1212Gln
NM_001039141:c.3635T>A
chr22:38122198:T>A
NM_001039141:p.Ile1218Val
NM_001039141:c.3652A>G
chr22:38122215:A>G
NM_001039141:p.Ile1218Ile
NM_001039141:c.3654C>T
chr22:38122217:C>T
NM_001039141:p.Gly1219Arg
NM_001039141:c.3655G>A
chr22:38122218:G>A
NM_001039141:p.Arg1221Trp
NM_001039141:c.3661C>T
chr22:38122224:C>T
NM_001039141:p.Arg1221Gln
NM_001039141:c.3662G>A
chr22:38122225:G>A
NM_001039141:c.3671_3676delCCCGAG
chr22:38122234:CCCGAG>-
NM_001039141:c.3672_3676delCCGAG
chr22:38122235:CCGAG>-
NM_001039141:p.Arg1225Stop
NM_001039141:c.3673C>T
chr22:38122236:C>T
NM_001039141:c.3673_3675delCGA
chr22:38122236:CGA>-
NM_001039141:p.Arg1225Pro
NM_001039141:c.3674G>C
chr22:38122237:G>C
NM_001039141:c.3674_3676delGAG
chr22:38122237:GAG>-
NM_001039141:p.Arg1225Arg
NM_001039141:c.3675A>C
chr22:38122238:A>C
NM_001039141:p.Ala1226Ser
NM_001039141:c.3676G>T
chr22:38122239:G>T
NM_001039141:p.Ala1226Val
NM_001039141:c.3677C>T
chr22:38122240:C>T
NM_001039141:p.Ser1227Ser
NM_001039141:c.3681C>A
chr22:38122244:C>A
NM_001039141:p.Pro1230Leu
NM_001039141:c.3689C>T
chr22:38122252:C>T
NM_001039141:p.Pro1230Pro
NM_001039141:c.3690C>A
chr22:38122253:C>A
NM_001039141:p.Ala1238Ala
NM_001039141:c.3714G>T
chr22:38122277:G>T
NM_001039141:p.Pro1258Thr
NM_001039141:c.3772C>A
chr22:38122335:C>A
NM_001039141:p.Pro1258Pro
NM_001039141:c.3774C>T
chr22:38122337:C>T
NM_001039141:p.Thr1261Thr
NM_001039141:c.3783C>T
chr22:38122346:C>T
NM_001039141:p.Arg1267Arg
NM_001039141:c.3799C>A
chr22:38122362:C>A
NM_001039141:p.Ala1274Ala
NM_001039141:c.3822C>T
chr22:38122385:C>T
NM_001039141:c.3851_3852delAG
chr22:38122414:AG>-
NM_001039141:p.Gln1284His
NM_001039141:c.3852G>T
chr22:38122415:G>T
NM_001039141:p.Ser1295Ser
NM_001039141:c.3885C>T
chr22:38122448:C>T
NM_001039141:p.Arg1298Cys
NM_001039141:c.3892C>T
chr22:38122455:C>T
NM_001039141:p.His1300Arg
NM_001039141:c.3899A>G
chr22:38122462:A>G
NM_001039141:p.Ser1318Ser
NM_001039141:c.3954C>T
chr22:38129311:C>T
NM_001039141:p.Ala1323Thr
NM_001039141:c.3967G>A
chr22:38129324:G>A
NM_001039141:p.Gln1325Gln
NM_001039141:c.3975G>A
chr22:38129332:G>A
NM_001039141:p.Arg1344Gln
NM_001039141:c.4031G>A
chr22:38129388:G>A
NM_001039141:c.4062+17G>A
chr22:38129436:G>A
NM_001039141:c.4062+19C>T
chr22:38129438:C>T
NM_001039141:p.Met1357Arg
NM_001039141:c.4070T>G
chr22:38130413:T>G
NM_001039141:p.Pro1359Pro
NM_001039141:c.4077T>C
chr22:38130420:T>C
NM_001039141:p.Arg1367Trp
NM_001039141:c.4099C>T
chr22:38130442:C>T
NM_001039141:p.Arg1368Gln
NM_001039141:c.4103G>A
chr22:38130446:G>A
NM_001039141:p.Glu1372Asp
NM_001039141:c.4116G>T
chr22:38130459:G>T
NM_001039141:p.Trp1377Arg
NM_001039141:c.4129T>C
chr22:38130472:T>C
NM_001039141:p.Glu1380Gly
NM_001039141:c.4139A>G
chr22:38130482:A>G
NM_001039141:p.Arg1387Trp
NM_001039141:c.4159C>T
chr22:38130502:C>T
NM_001039141:p.Leu1389Ile
NM_001039141:c.4165C>A
chr22:38130508:C>A
NM_001039141:p.Pro1393Leu
NM_001039141:c.4178C>T
chr22:38130521:C>T
NM_001039141:p.Pro1393Pro
NM_001039141:c.4179G>A
chr22:38130522:G>A
NM_001039141:p.Ala1418Ala
NM_001039141:c.4254A>G
chr22:38130597:A>G
NM_001039141:p.Gly1425Gly
NM_001039141:c.4275G>T
chr22:38130618:G>T
NM_001039141:p.Pro1433Pro
NM_001039141:c.4299G>A
chr22:38130642:G>A
NM_001039141:p.His1440His
NM_001039141:c.4320T>C
chr22:38130663:T>C
NM_001039141:p.Arg1445Gly
NM_001039141:c.4333A>G
chr22:38130676:A>G
NM_001039141:p.Gly1457Glu
NM_001039141:c.4370G>A
chr22:38130713:G>A
NM_001039141:p.Pro1473Pro
NM_001039141:c.4419G>A
chr22:38130762:G>A
NM_001039141:p.Ala1476Ala
NM_001039141:c.4428A>G
chr22:38130771:A>G
NM_001039141:p.Ser1481Phe
NM_001039141:c.4442C>T
chr22:38130785:C>T
NM_001039141:p.Tyr1484Cys
NM_001039141:c.4451A>G
chr22:38130794:A>G
NM_001039141:p.Glu1495Val
NM_001039141:c.4484A>T
chr22:38130827:A>T
NM_001039141:p.Thr1499Ile
NM_001039141:c.4496C>T
chr22:38130839:C>T
NM_001039141:p.Thr1499Thr
NM_001039141:c.4497T>G
chr22:38130840:T>G
NM_001039141:p.Glu1501Gly
NM_001039141:c.4502A>G
chr22:38130845:A>G
NM_001039141:p.Ala1523Thr
NM_001039141:c.4567G>A
chr22:38130910:G>A
NM_001039141:p.Gly1532Gly
NM_001039141:c.4596G>T
chr22:38130939:G>T
NM_001039141:p.Val1537Ala
NM_001039141:c.4610T>C
chr22:38130953:T>C
NM_001039141:p.Pro1546Leu
NM_001039141:c.4637C>T
chr22:38130980:C>T
NM_001039141:p.Pro1548Leu
NM_001039141:c.4643C>T
chr22:38130986:C>T
NM_001039141:p.Ser1551Ser
NM_001039141:c.4653T>G
chr22:38130996:T>G
NM_001039141:p.Arg1554Gln
NM_001039141:c.4661G>A
chr22:38131004:G>A
NM_001039141:p.Pro1555Pro
NM_001039141:c.4665C>T
chr22:38131008:C>T
NM_001039141:p.Glu1556Lys
NM_001039141:c.4666G>A
chr22:38131009:G>A
NM_001039141:p.Leu1563Leu
NM_001039141:c.4689T>C
chr22:38131032:T>C
NM_001039141:p.Arg1567Trp
NM_001039141:c.4699C>T
chr22:38131042:C>T
NM_001039141:p.Arg1567Gln
NM_001039141:c.4700G>A
chr22:38131043:G>A
NM_001039141:p.Arg1576Cys
NM_001039141:c.4726C>T
chr22:38131069:C>T
NM_001039141:p.Arg1576Arg
NM_001039141:c.4728T>C