ClinVar Miner

List of variants reported as likely benign for Bloom syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1136
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725 0.00090
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119 0.00066
NM_000057.4(BLM):c.3020-15C>T rs200210516 0.00047
NM_000057.4(BLM):c.645C>T (p.Ser215=) rs56218710 0.00045
NM_000057.4(BLM):c.1883-17G>A rs376931510 0.00044
NM_000057.4(BLM):c.3813G>A (p.Leu1271=) rs376082823 0.00039
NM_000057.4(BLM):c.759G>A (p.Gln253=) rs34580216 0.00034
NM_000057.4(BLM):c.780T>C (p.Thr260=) rs55763079 0.00034
NM_000057.4(BLM):c.2115T>C (p.Val705=) rs142787700 0.00029
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569 0.00029
NM_000057.4(BLM):c.3225A>G (p.Arg1075=) rs7171673 0.00024
NM_000057.4(BLM):c.174T>C (p.Pro58=) rs576862402 0.00023
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738 0.00018
NM_000057.4(BLM):c.3751+10C>T rs199685140 0.00016
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272 0.00013
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135 0.00013
NM_000057.4(BLM):c.2194-13C>T rs746930460 0.00012
NM_000057.4(BLM):c.1086C>T (p.Asp362=) rs375632163 0.00011
NM_000057.4(BLM):c.2598A>T (p.Val866=) rs574053990 0.00010
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962 0.00010
NM_000057.4(BLM):c.3426C>T (p.Ala1142=) rs147148171 0.00010
NM_000057.4(BLM):c.2293G>A (p.Val765Ile) rs191789336 0.00009
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856 0.00009
NM_000057.4(BLM):c.1088-14T>C rs781351856 0.00008
NM_000057.4(BLM):c.664G>A (p.Glu222Lys) rs774075577 0.00008
NM_000057.4(BLM):c.2856G>A (p.Gly952=) rs140559841 0.00007
NM_000057.4(BLM):c.3751+9A>C rs774368488 0.00007
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301 0.00006
NM_000057.4(BLM):c.2194-11T>G rs8038505 0.00006
NM_000057.4(BLM):c.2407-6A>G rs1478497820 0.00006
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050 0.00006
NM_000057.4(BLM):c.2555+14C>T rs372929243 0.00006
NM_000057.4(BLM):c.2877A>C (p.Arg959=) rs773582992 0.00006
NM_000057.4(BLM):c.4186T>C (p.Leu1396=) rs376734461 0.00006
NM_000057.4(BLM):c.450C>T (p.Thr150=) rs148861300 0.00006
NM_000057.4(BLM):c.1194C>T (p.Asn398=) rs202103556 0.00005
NM_000057.4(BLM):c.1881T>C (p.Thr627=) rs148678729 0.00005
NM_000057.4(BLM):c.2025G>A (p.Ala675=) rs781424357 0.00005
NM_000057.4(BLM):c.2049A>G (p.Glu683=) rs201440695 0.00005
NM_000057.4(BLM):c.2599T>C (p.Leu867=) rs370713907 0.00005
NM_000057.4(BLM):c.3359-12T>A rs370837480 0.00005
NM_000057.4(BLM):c.4077-5T>C rs200653178 0.00005
NM_000057.4(BLM):c.4224G>A (p.Pro1408=) rs774367622 0.00005
NM_000057.4(BLM):c.1221-8C>T rs1895945158 0.00004
NM_000057.4(BLM):c.1883-13A>G rs575410334 0.00004
NM_000057.4(BLM):c.201T>C (p.Val67=) rs563887813 0.00004
NM_000057.4(BLM):c.2074+20A>G rs375831667 0.00004
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280 0.00004
NM_000057.4(BLM):c.2555+19C>G rs769922498 0.00004
NM_000057.4(BLM):c.2721G>A (p.Thr907=) rs1009065257 0.00004
NM_000057.4(BLM):c.3117A>G (p.Ile1039Met) rs576199850 0.00004
NM_000057.4(BLM):c.1245T>C (p.Asp415=) rs768154708 0.00003
NM_000057.4(BLM):c.129A>G (p.Ser43=) rs767605181 0.00003
NM_000057.4(BLM):c.1563A>G (p.Pro521=) rs763118109 0.00003
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306 0.00003
NM_000057.4(BLM):c.2307+13A>G rs371859766 0.00003
NM_000057.4(BLM):c.345G>A (p.Pro115=) rs374578971 0.00003
NM_000057.4(BLM):c.3501G>A (p.Ala1167=) rs752559933 0.00003
NM_000057.4(BLM):c.3729C>T (p.Thr1243=) rs747293738 0.00003
NM_000057.4(BLM):c.3921C>T (p.Pro1307=) rs149286215 0.00003
NM_000057.4(BLM):c.799+16T>G rs370608122 0.00003
NM_000057.4(BLM):c.1134C>T (p.His378=) rs757896754 0.00002
NM_000057.4(BLM):c.1220+14C>T rs762528536 0.00002
NM_000057.4(BLM):c.1220+9A>G rs775121844 0.00002
NM_000057.4(BLM):c.1236G>A (p.Thr412=) rs762617509 0.00002
NM_000057.4(BLM):c.1308T>C (p.Asp436=) rs140178590 0.00002
NM_000057.4(BLM):c.2194-14A>G rs778980650 0.00002
NM_000057.4(BLM):c.2407-9T>C rs749544427 0.00002
NM_000057.4(BLM):c.2655C>T (p.His885=) rs1404506326 0.00002
NM_000057.4(BLM):c.2823+16A>C rs375317070 0.00002
NM_000057.4(BLM):c.2871C>T (p.Asp957=) rs878853554 0.00002
NM_000057.4(BLM):c.3019+11C>A rs776916080 0.00002
NM_000057.4(BLM):c.3019+7T>C rs761087545 0.00002
NM_000057.4(BLM):c.3237C>T (p.Asp1079=) rs148237075 0.00002
NM_000057.4(BLM):c.3504C>T (p.Ile1168=) rs758199564 0.00002
NM_000057.4(BLM):c.3558+15A>G rs557695835 0.00002
NM_000057.4(BLM):c.3559-13C>G rs368473682 0.00002
NM_000057.4(BLM):c.3951G>A (p.Glu1317=) rs138188609 0.00002
NM_000057.4(BLM):c.4128C>T (p.Ile1376=) rs1314592673 0.00002
NM_000057.4(BLM):c.792T>C (p.Asp264=) rs764442592 0.00002
NM_000057.4(BLM):c.894G>A (p.Thr298=) rs762144355 0.00002
NM_000057.4(BLM):c.918A>G (p.Glu306=) rs760806762 0.00002
NM_000057.4(BLM):c.963G>A (p.Thr321=) rs779461745 0.00002
NM_000057.4(BLM):c.1038G>A (p.Glu346=) rs1181692024 0.00001
NM_000057.4(BLM):c.1088-15A>G rs757626398 0.00001
NM_000057.4(BLM):c.1088-20A>G rs1895929728 0.00001
NM_000057.4(BLM):c.1191G>C (p.Gly397=) rs780393464 0.00001
NM_000057.4(BLM):c.1220+17C>T rs763676199 0.00001
NM_000057.4(BLM):c.1266T>C (p.Ser422=) rs1895947616 0.00001
NM_000057.4(BLM):c.1275C>A (p.Gly425=) rs1475915995 0.00001
NM_000057.4(BLM):c.1305T>C (p.Leu435=) rs778967807 0.00001
NM_000057.4(BLM):c.1419C>T (p.Thr473=) rs200051680 0.00001
NM_000057.4(BLM):c.1482C>A (p.Thr494=) rs1596229985 0.00001
NM_000057.4(BLM):c.1486T>C (p.Leu496=) rs1596229989 0.00001
NM_000057.4(BLM):c.1497C>T (p.Ser499=) rs540772424 0.00001
NM_000057.4(BLM):c.1536A>G (p.Gly512=) rs777277614 0.00001
NM_000057.4(BLM):c.1551C>T (p.Ser517=) rs775878725 0.00001
NM_000057.4(BLM):c.1566A>G (p.Gly522=) rs1895965477 0.00001
NM_000057.4(BLM):c.159A>G (p.Ser53=) rs753606820 0.00001
NM_000057.4(BLM):c.1674A>T (p.Ile558=) rs770573584 0.00001
NM_000057.4(BLM):c.1695T>C (p.Asp565=) rs1343910502 0.00001
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543 0.00001
NM_000057.4(BLM):c.1791A>G (p.Ser597=) rs1895976551 0.00001
NM_000057.4(BLM):c.1797A>G (p.Arg599=) rs745353821 0.00001
NM_000057.4(BLM):c.1833A>G (p.Ser611=) rs747181657 0.00001
NM_000057.4(BLM):c.1854C>T (p.Asn618=) rs371519654 0.00001
NM_000057.4(BLM):c.1863G>A (p.Glu621=) rs374965438 0.00001
NM_000057.4(BLM):c.1878T>C (p.Tyr626=) rs1176677177 0.00001
NM_000057.4(BLM):c.1882+20A>T rs773201778 0.00001
NM_000057.4(BLM):c.1905A>G (p.Ala635=) rs747122267 0.00001
NM_000057.4(BLM):c.1926G>A (p.Glu642=) rs763017658 0.00001
NM_000057.4(BLM):c.2017C>T (p.Leu673=) rs1896030349 0.00001
NM_000057.4(BLM):c.2038C>T (p.Leu680=) rs1250342410 0.00001
NM_000057.4(BLM):c.2058T>C (p.Phe686=) rs748410729 0.00001
NM_000057.4(BLM):c.2070G>A (p.Pro690=) rs148078150 0.00001
NM_000057.4(BLM):c.2118T>C (p.Ser706=) rs1896094006 0.00001
NM_000057.4(BLM):c.2169A>G (p.Gln723=) rs781635047 0.00001
NM_000057.4(BLM):c.2193+17C>T rs749297090 0.00001
NM_000057.4(BLM):c.2193+19A>G rs374456610 0.00001
NM_000057.4(BLM):c.2193+9T>C rs780311860 0.00001
NM_000057.4(BLM):c.2194-20T>C rs754006696 0.00001
NM_000057.4(BLM):c.2194-6A>G rs946104255 0.00001
NM_000057.4(BLM):c.2202T>C (p.Ala734=) rs1596235728 0.00001
NM_000057.4(BLM):c.2211G>C (p.Leu737=) rs933356579 0.00001
NM_000057.4(BLM):c.2241A>G (p.Thr747=) rs1060503987 0.00001
NM_000057.4(BLM):c.2244T>C (p.Asn748=) rs1223636319 0.00001
NM_000057.4(BLM):c.2277C>T (p.Ile759=) rs761106964 0.00001
NM_000057.4(BLM):c.227C>T (p.Pro76Leu) rs774515970 0.00001
NM_000057.4(BLM):c.2289A>G (p.Leu763=) rs1567044034 0.00001
NM_000057.4(BLM):c.2307+10T>G rs755168095 0.00001
NM_000057.4(BLM):c.2308-5C>T rs957805754 0.00001
NM_000057.4(BLM):c.2308-6G>A rs1219227761 0.00001
NM_000057.4(BLM):c.2310C>T (p.Ile770=) rs759705000 0.00001
NM_000057.4(BLM):c.2325A>G (p.Arg775=) rs1182162934 0.00001
NM_000057.4(BLM):c.2370A>G (p.Ala790=) rs747537954 0.00001
NM_000057.4(BLM):c.2397T>C (p.Cys799=) rs771209978 0.00001
NM_000057.4(BLM):c.2406+12T>C rs988984153 0.00001
NM_000057.4(BLM):c.2407-20G>A rs374279601 0.00001
NM_000057.4(BLM):c.2454C>G (p.Arg818=) rs746409922 0.00001
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032 0.00001
NM_000057.4(BLM):c.2505C>G (p.Pro835=) rs1023396216 0.00001
NM_000057.4(BLM):c.2517G>A (p.Lys839=) rs1353519492 0.00001
NM_000057.4(BLM):c.252A>G (p.Gln84=) rs370062646 0.00001
NM_000057.4(BLM):c.2550T>C (p.Pro850=) rs749718344 0.00001
NM_000057.4(BLM):c.2555+15G>A rs376896850 0.00001
NM_000057.4(BLM):c.2555+20G>A rs762930185 0.00001
NM_000057.4(BLM):c.2555+8G>A rs1388713132 0.00001
NM_000057.4(BLM):c.2604G>A (p.Pro868=) rs768447097 0.00001
NM_000057.4(BLM):c.2610G>A (p.Lys870=) rs905435014 0.00001
NM_000057.4(BLM):c.261G>A (p.Lys87=) rs372668612 0.00001
NM_000057.4(BLM):c.2647A>C (p.Arg883=) rs1035944262 0.00001
NM_000057.4(BLM):c.2661A>G (p.Pro887=) rs753160480 0.00001
NM_000057.4(BLM):c.2662+13A>G rs778144758 0.00001
NM_000057.4(BLM):c.2662+8C>G rs1330037075 0.00001
NM_000057.4(BLM):c.2663-5G>C rs1161787867 0.00001
NM_000057.4(BLM):c.2679T>C (p.Ile893=) rs751945434 0.00001
NM_000057.4(BLM):c.267C>T (p.Phe89=) rs758297574 0.00001
NM_000057.4(BLM):c.2691C>T (p.Ser897=) rs756155242 0.00001
NM_000057.4(BLM):c.2709C>A (p.Thr903=) rs1555422522 0.00001
NM_000057.4(BLM):c.2763C>T (p.Gly921=) rs1170782980 0.00001
NM_000057.4(BLM):c.2784T>C (p.Asp928=) rs1032746564 0.00001
NM_000057.4(BLM):c.2787A>G (p.Glu929=) rs764679551 0.00001
NM_000057.4(BLM):c.2823+8T>C rs767928947 0.00001
NM_000057.4(BLM):c.2824-18C>A rs958623858 0.00001
NM_000057.4(BLM):c.2868G>A (p.Pro956=) rs199861261 0.00001
NM_000057.4(BLM):c.2979T>C (p.Tyr993=) rs1896887595 0.00001
NM_000057.4(BLM):c.2985T>C (p.Tyr995=) rs1367612540 0.00001
NM_000057.4(BLM):c.3019+16T>C rs759695033 0.00001
NM_000057.4(BLM):c.3020-11A>G rs1331229405 0.00001
NM_000057.4(BLM):c.3042T>C (p.His1014=) rs1060503986 0.00001
NM_000057.4(BLM):c.3060C>T (p.Phe1020=) rs763020597 0.00001
NM_000057.4(BLM):c.309A>T (p.Gly103=) rs1596218155 0.00001
NM_000057.4(BLM):c.3195T>C (p.Asn1065=) rs1297274221 0.00001
NM_000057.4(BLM):c.3210+10G>T rs765057634 0.00001
NM_000057.4(BLM):c.3210+4A>G rs776621429 0.00001
NM_000057.4(BLM):c.3211-11T>C rs1205725795 0.00001
NM_000057.4(BLM):c.3211-14C>G rs756488961 0.00001
NM_000057.4(BLM):c.3240T>C (p.Asp1080=) rs1436960569 0.00001
NM_000057.4(BLM):c.3252T>C (p.Ile1084=) rs751147296 0.00001
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162 0.00001
NM_000057.4(BLM):c.3345C>T (p.Val1115=) rs773893026 0.00001
NM_000057.4(BLM):c.3348C>T (p.Asp1116=) rs372697241 0.00001
NM_000057.4(BLM):c.3358+15T>C rs761215968 0.00001
NM_000057.4(BLM):c.3358+16T>C rs766854886 0.00001
NM_000057.4(BLM):c.3359-17C>T rs1001673659 0.00001
NM_000057.4(BLM):c.3359-9T>C rs1060503988 0.00001
NM_000057.4(BLM):c.3396A>G (p.Gly1132=) rs1897213577 0.00001
NM_000057.4(BLM):c.3468T>C (p.Asp1156=) rs1325465971 0.00001
NM_000057.4(BLM):c.3474C>T (p.Asp1158=) rs1158977476 0.00001
NM_000057.4(BLM):c.3492T>C (p.Asn1164=) rs762058424 0.00001
NM_000057.4(BLM):c.3510T>C (p.Tyr1170=) rs771325448 0.00001
NM_000057.4(BLM):c.3513G>A (p.Val1171=) rs780615126 0.00001
NM_000057.4(BLM):c.3519C>T (p.Leu1173=) rs769119431 0.00001
NM_000057.4(BLM):c.3534A>G (p.Gln1178=) rs769177306 0.00001
NM_000057.4(BLM):c.3585C>T (p.Ser1195=) rs1023322113 0.00001
NM_000057.4(BLM):c.3609G>A (p.Ala1203=) rs151114049 0.00001
NM_000057.4(BLM):c.3660A>G (p.Gly1220=) rs779564538 0.00001
NM_000057.4(BLM):c.3690G>A (p.Gly1230=) rs1177156588 0.00001
NM_000057.4(BLM):c.3699T>C (p.Phe1233=) rs773406498 0.00001
NM_000057.4(BLM):c.372C>T (p.Asn124=) rs776602757 0.00001
NM_000057.4(BLM):c.3752-6G>A rs747358693 0.00001
NM_000057.4(BLM):c.3756T>A (p.Ser1252=) rs771209895 0.00001
NM_000057.4(BLM):c.3822T>C (p.Tyr1274=) rs578242272 0.00001
NM_000057.4(BLM):c.3825T>C (p.Gly1275=) rs1330805869 0.00001
NM_000057.4(BLM):c.3840A>G (p.Ser1280=) rs759221501 0.00001
NM_000057.4(BLM):c.3867A>G (p.Thr1289=) rs759000443 0.00001
NM_000057.4(BLM):c.3874+12G>A rs563655888 0.00001
NM_000057.4(BLM):c.3874+14C>T rs200469326 0.00001
NM_000057.4(BLM):c.3874+18del rs760501703 0.00001
NM_000057.4(BLM):c.3874+19G>A rs1352718454 0.00001
NM_000057.4(BLM):c.3875-6T>C rs1021714718 0.00001
NM_000057.4(BLM):c.3924A>T (p.Gly1308=) rs1019687102 0.00001
NM_000057.4(BLM):c.3933C>T (p.Ala1311=) rs756451802 0.00001
NM_000057.4(BLM):c.4023C>T (p.Ala1341=) rs1596273681 0.00001
NM_000057.4(BLM):c.405T>C (p.Ala135=) rs1489975728 0.00001
NM_000057.4(BLM):c.4119C>G (p.Ser1373=) rs1210181566 0.00001
NM_000057.4(BLM):c.4158T>G (p.Ser1386=) rs746522338 0.00001
NM_000057.4(BLM):c.417A>G (p.Leu139=) rs756759106 0.00001
NM_000057.4(BLM):c.4188G>A (p.Leu1396=) rs1226163466 0.00001
NM_000057.4(BLM):c.4206G>A (p.Pro1402=) rs775975894 0.00001
NM_000057.4(BLM):c.437A>T (p.Asp146Val) rs902876126 0.00001
NM_000057.4(BLM):c.453C>A (p.Ile151=) rs1200887609 0.00001
NM_000057.4(BLM):c.45T>C (p.Arg15=) rs1458732220 0.00001
NM_000057.4(BLM):c.528C>T (p.His176=) rs1414955135 0.00001
NM_000057.4(BLM):c.540A>T (p.Val180=) rs763776756 0.00001
NM_000057.4(BLM):c.558A>C (p.Ser186=) rs982183816 0.00001
NM_000057.4(BLM):c.609A>G (p.Thr203=) rs1448719185 0.00001
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548 0.00001
NM_000057.4(BLM):c.702T>C (p.Asp234=) rs1271054585 0.00001
NM_000057.4(BLM):c.711C>T (p.Cys237=) rs752961612 0.00001
NM_000057.4(BLM):c.870A>G (p.Glu290=) rs757016773 0.00001
NM_000057.4(BLM):c.888T>C (p.Tyr296=) rs139277089 0.00001
NM_000057.4(BLM):c.909T>C (p.Pro303=) rs767770187 0.00001
NM_000057.4(BLM):c.933T>C (p.Ala311=) rs1413246062 0.00001
NM_000057.4(BLM):c.959+17A>G rs1263627625 0.00001
NM_000057.4(BLM):c.959+7T>C rs1274044135 0.00001
NM_000057.4(BLM):c.960-8A>G rs1895773501 0.00001
NC_000015.9:g.(?_91305197)_(91306180_?)del
NM_000057.4(BLM):c.1008C>T (p.Ser336=) rs1490955099
NM_000057.4(BLM):c.1011A>T (p.Thr337=) rs773511833
NM_000057.4(BLM):c.1014A>C (p.Ser338=) rs1251803802
NM_000057.4(BLM):c.1023T>C (p.Leu341=)
NM_000057.4(BLM):c.1023T>G (p.Leu341=) rs28385006
NM_000057.4(BLM):c.1041A>G (p.Lys347=)
NM_000057.4(BLM):c.1071C>T (p.Thr357=) rs1596223942
NM_000057.4(BLM):c.1074C>T (p.Ser358=) rs372459059
NM_000057.4(BLM):c.1077A>G (p.Thr359=) rs1361847926
NM_000057.4(BLM):c.1083T>C (p.Cys361=)
NM_000057.4(BLM):c.1087+11T>C rs2151152365
NM_000057.4(BLM):c.1087+12A>G
NM_000057.4(BLM):c.1087+15T>G
NM_000057.4(BLM):c.1087+19A>G
NM_000057.4(BLM):c.1087+20C>T rs1186216476
NM_000057.4(BLM):c.1087+7G>A rs2151152360
NM_000057.4(BLM):c.1087+8C>A rs1895780097
NM_000057.4(BLM):c.1087+9A>C
NM_000057.4(BLM):c.1088-13A>T
NM_000057.4(BLM):c.1088-17A>G rs747396397
NM_000057.4(BLM):c.1088-17_1088-15del rs750254937
NM_000057.4(BLM):c.1088-18A>G rs2151157054
NM_000057.4(BLM):c.1088-19C>G
NM_000057.4(BLM):c.1088-9A>T
NM_000057.4(BLM):c.1089T>C (p.Ala363=) rs2151157107
NM_000057.4(BLM):c.1092A>G (p.Arg364=) rs2151157122
NM_000057.4(BLM):c.1101T>C (p.Ser367=)
NM_000057.4(BLM):c.1107G>A (p.Gln369=) rs1895931307
NM_000057.4(BLM):c.1110G>A (p.Gln370=) rs2151157206
NM_000057.4(BLM):c.1113G>A (p.Gln371=) rs760446922
NM_000057.4(BLM):c.1125G>A (p.Val375=) rs2151157267
NM_000057.4(BLM):c.1131G>A (p.Glu377=) rs764842587
NM_000057.4(BLM):c.1164T>C (p.Asp388=) rs2151157391
NM_000057.4(BLM):c.1180T>C (p.Leu394=) rs2151157434
NM_000057.4(BLM):c.1185T>C (p.Asp395=) rs2151157439
NM_000057.4(BLM):c.1188T>C (p.Cys396=) rs756454608
NM_000057.4(BLM):c.1209G>A (p.Gln403=) rs1555419741
NM_000057.4(BLM):c.1212G>A (p.Arg404=)
NM_000057.4(BLM):c.1212G>C (p.Arg404=)
NM_000057.4(BLM):c.1212G>T (p.Arg404=) rs759308711
NM_000057.4(BLM):c.1218A>C (p.Ile406=)
NM_000057.4(BLM):c.1220+11T>A
NM_000057.4(BLM):c.1220+11T>G
NM_000057.4(BLM):c.1220+14C>A
NM_000057.4(BLM):c.1220+14C>G
NM_000057.4(BLM):c.1220+17C>G
NM_000057.4(BLM):c.1220+18C>T
NM_000057.4(BLM):c.1221-11T>C
NM_000057.4(BLM):c.1221-12_1221-11del rs1895945037
NM_000057.4(BLM):c.1221-15C>G rs1038629873
NM_000057.4(BLM):c.1221-16T>C rs2151157723
NM_000057.4(BLM):c.1221-20G>A rs2151157720
NM_000057.4(BLM):c.1221-6C>A
NM_000057.4(BLM):c.1221-6C>G rs1555419778
NM_000057.4(BLM):c.1221-6C>T rs1555419778
NM_000057.4(BLM):c.1221-8C>G
NM_000057.4(BLM):c.1236G>T (p.Thr412=) rs762617509
NM_000057.4(BLM):c.1251T>C (p.Asn417=) rs1555419791
NM_000057.4(BLM):c.1269T>C (p.Leu423=)
NM_000057.4(BLM):c.1278A>C (p.Ser426=) rs1596229500
NM_000057.4(BLM):c.1278A>G (p.Ser426=) rs1596229500
NM_000057.4(BLM):c.1279T>C (p.Leu427=) rs2151157855
NM_000057.4(BLM):c.1281G>A (p.Leu427=) rs2151157860
NM_000057.4(BLM):c.1290C>T (p.Tyr430=) rs766861351
NM_000057.4(BLM):c.1296T>C (p.Pro432=) rs1555419811
NM_000057.4(BLM):c.1296T>G (p.Pro432=)
NM_000057.4(BLM):c.1299T>C (p.Asp433=)
NM_000057.4(BLM):c.1305T>G (p.Leu435=) rs778967807
NM_000057.4(BLM):c.1314T>C (p.Pro438=) rs1225205444
NM_000057.4(BLM):c.1326T>C (p.Asp442=) rs2151158008
NM_000057.4(BLM):c.1329C>A (p.Ser443=)
NM_000057.4(BLM):c.1329C>T (p.Ser443=)
NM_000057.4(BLM):c.1332C>T (p.Cys444=) rs1895952071
NM_000057.4(BLM):c.1338A>G (p.Thr446=) rs2151158038
NM_000057.4(BLM):c.1347T>C (p.Ser449=) rs1481709366
NM_000057.4(BLM):c.1356G>A (p.Glu452=)
NM_000057.4(BLM):c.135C>T (p.Asn45=) rs2151146713
NM_000057.4(BLM):c.1362T>C (p.Asn454=) rs1156488243
NM_000057.4(BLM):c.1365T>C (p.Phe455=)
NM_000057.4(BLM):c.1368A>T (p.Ser456=)
NM_000057.4(BLM):c.1371C>T (p.His457=)
NM_000057.4(BLM):c.1374T>G (p.Leu458=) rs753456624
NM_000057.4(BLM):c.1383T>C (p.Asn461=) rs2151158124
NM_000057.4(BLM):c.138T>C (p.Asn46=) rs1895600929
NM_000057.4(BLM):c.1392T>C (p.Ser464=) rs2151158131
NM_000057.4(BLM):c.1395T>C (p.Pro465=)
NM_000057.4(BLM):c.1398G>A (p.Gly466=) rs1596229756
NM_000057.4(BLM):c.1404T>C (p.Cys468=) rs1236929438
NM_000057.4(BLM):c.1416C>A (p.Thr472=)
NM_000057.4(BLM):c.1419C>G (p.Thr473=) rs200051680
NM_000057.4(BLM):c.141A>C (p.Val47=)
NM_000057.4(BLM):c.1425A>G (p.Gly475=)
NM_000057.4(BLM):c.1437C>T (p.Phe479=)
NM_000057.4(BLM):c.1446C>T (p.Thr482=) rs2151158251
NM_000057.4(BLM):c.1449G>A (p.Arg483=) rs1596229906
NM_000057.4(BLM):c.1461T>C (p.Phe487=)
NM_000057.4(BLM):c.1470T>C (p.Pro490=)
NM_000057.4(BLM):c.1473A>G (p.Leu491=)
NM_000057.4(BLM):c.1479T>C (p.Asn493=)
NM_000057.4(BLM):c.147A>C (p.Val49=)
NM_000057.4(BLM):c.1482C>T (p.Thr494=) rs1596229985
NM_000057.4(BLM):c.1485T>C (p.His495=) rs2151158313
NM_000057.4(BLM):c.1488A>G (p.Leu496=)
NM_000057.4(BLM):c.1494G>A (p.Lys498=)
NM_000057.4(BLM):c.1497C>A (p.Ser499=) rs540772424
NM_000057.4(BLM):c.1500T>C (p.Phe500=)
NM_000057.4(BLM):c.1533A>C (p.Leu511=)
NM_000057.4(BLM):c.153T>C (p.Asn51=)
NM_000057.4(BLM):c.1554T>A (p.Ser518=) rs2151158475
NM_000057.4(BLM):c.1557T>C (p.Tyr519=)
NM_000057.4(BLM):c.1560C>T (p.Phe520=) rs2151158484
NM_000057.4(BLM):c.1563A>C (p.Pro521=)
NM_000057.4(BLM):c.156G>A (p.Val52=)
NM_000057.4(BLM):c.156G>T (p.Val52=) rs2151146748
NM_000057.4(BLM):c.1584T>G (p.Thr528=) rs766369993
NM_000057.4(BLM):c.1590G>A (p.Val530=)
NM_000057.4(BLM):c.1599G>A (p.Gln533=) rs2151158575
NM_000057.4(BLM):c.1611T>C (p.Thr537=) rs1895967311
NM_000057.4(BLM):c.1626C>T (p.Asp542=) rs1895968518
NM_000057.4(BLM):c.1641C>G (p.Thr547=)
NM_000057.4(BLM):c.1641C>T (p.Thr547=) rs2151158651
NM_000057.4(BLM):c.1644A>G (p.Gln548=)
NM_000057.4(BLM):c.1647T>C (p.Pro549=)
NM_000057.4(BLM):c.1653T>C (p.Tyr551=)
NM_000057.4(BLM):c.1674A>C (p.Ile558=)
NM_000057.4(BLM):c.1683T>C (p.Phe561=)
NM_000057.4(BLM):c.1686T>C (p.Asp562=)
NM_000057.4(BLM):c.1689T>C (p.Asp563=)
NM_000057.4(BLM):c.1707C>T (p.Asp569=) rs1596230402
NM_000057.4(BLM):c.171A>T (p.Thr57=)
NM_000057.4(BLM):c.1725A>G (p.Ala575=) rs2151158860
NM_000057.4(BLM):c.1734A>G (p.Lys578=)
NM_000057.4(BLM):c.1737T>G (p.Ser579=) rs2151158878
NM_000057.4(BLM):c.1749C>G (p.Ala583=) rs369660800
NM_000057.4(BLM):c.1749C>T (p.Ala583=) rs369660800
NM_000057.4(BLM):c.1764G>A (p.Lys588=) rs1596230518
NM_000057.4(BLM):c.1767A>G (p.Glu589=) rs2151158940
NM_000057.4(BLM):c.1770T>C (p.Gly590=)
NM_000057.4(BLM):c.1773G>A (p.Arg591=) rs1161912678
NM_000057.4(BLM):c.1788A>G (p.Val596=) rs1555419972
NM_000057.4(BLM):c.1803C>T (p.Ser601=)
NM_000057.4(BLM):c.1806A>G (p.Ser602=)
NM_000057.4(BLM):c.1809C>G (p.Ala603=) rs1596230587
NM_000057.4(BLM):c.1812G>A (p.Lys604=)
NM_000057.4(BLM):c.1818C>T (p.Asp606=) rs1343649830
NM_000057.4(BLM):c.1827A>G (p.Pro609=) rs1035455107
NM_000057.4(BLM):c.1827A>T (p.Pro609=)
NM_000057.4(BLM):c.1836T>C (p.Ser612=)
NM_000057.4(BLM):c.1839T>C (p.Thr613=) rs2151159114
NM_000057.4(BLM):c.1845A>G (p.Gln615=)
NM_000057.4(BLM):c.1857C>T (p.Phe619=) rs1218260888
NM_000057.4(BLM):c.1860A>C (p.Ser620=) rs1286518338
NM_000057.4(BLM):c.1866A>G (p.Ser622=) rs2151159183
NM_000057.4(BLM):c.1875T>C (p.Asn625=) rs2151159204
NM_000057.4(BLM):c.1882+15A>C
NM_000057.4(BLM):c.1882+15A>G
NM_000057.4(BLM):c.1882+17T>A rs2151159231
NM_000057.4(BLM):c.1882+18T>C
NM_000057.4(BLM):c.1882+19G>A
NM_000057.4(BLM):c.1883-10A>G
NM_000057.4(BLM):c.1883-11T>A rs2151160467
NM_000057.4(BLM):c.1883-14G>A rs1459105649
NM_000057.4(BLM):c.1883-14G>T
NM_000057.4(BLM):c.1883-14_1883-11del
NM_000057.4(BLM):c.1883-18C>T rs755428003
NM_000057.4(BLM):c.1883-6T>C rs1596232042
NM_000057.4(BLM):c.1883-7T>C rs1384842732
NM_000057.4(BLM):c.1883-8T>G
NM_000057.4(BLM):c.18A>G (p.Gln6=) rs372771577
NM_000057.4(BLM):c.1908C>A (p.Ser636=)
NM_000057.4(BLM):c.1908C>T (p.Ser636=) rs1409930066
NM_000057.4(BLM):c.1917G>A (p.Leu639=) rs771059822
NM_000057.4(BLM):c.1929T>C (p.Arg643=)
NM_000057.4(BLM):c.192T>C (p.Asp64=) rs2151146805
NM_000057.4(BLM):c.1953T>C (p.His651=) rs755517718
NM_000057.4(BLM):c.1956A>C (p.Thr652=) rs1567042229
NM_000057.4(BLM):c.1956A>G (p.Thr652=) rs1567042229
NM_000057.4(BLM):c.1959G>A (p.Lys653=)
NM_000057.4(BLM):c.1977T>C (p.Phe659=) rs1596232235
NM_000057.4(BLM):c.1986A>G (p.Lys662=)
NM_000057.4(BLM):c.198T>C (p.Asn66=) rs1410899563
NM_000057.4(BLM):c.1992C>G (p.Gly664=) rs886043359
NM_000057.4(BLM):c.1993C>T (p.Leu665=) rs2151160690
NM_000057.4(BLM):c.1995G>A (p.Leu665=)
NM_000057.4(BLM):c.1995G>C (p.Leu665=) rs2151160697
NM_000057.4(BLM):c.2004T>C (p.Phe668=)
NM_000057.4(BLM):c.2016G>A (p.Gln672=) rs986590937
NM_000057.4(BLM):c.2019A>G (p.Leu673=) rs2151160712
NM_000057.4(BLM):c.2022G>A (p.Glu674=) rs1596232275
NM_000057.4(BLM):c.2028C>T (p.Ile676=) rs2151160730
NM_000057.4(BLM):c.2031T>C (p.Asn677=)
NM_000057.4(BLM):c.2034T>C (p.Ala678=) rs2151160740
NM_000057.4(BLM):c.2037A>C (p.Ala679=)
NM_000057.4(BLM):c.2043T>C (p.Leu681=) rs2151160770
NM_000057.4(BLM):c.2046T>C (p.Gly682=)
NM_000057.4(BLM):c.2046T>G (p.Gly682=) rs2151160778
NM_000057.4(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.4(BLM):c.204C>G (p.Thr68=) rs199927688
NM_000057.4(BLM):c.2070G>T (p.Pro690=) rs148078150
NM_000057.4(BLM):c.2074+10T>C
NM_000057.4(BLM):c.2074+13A>G
NM_000057.4(BLM):c.2074+14G>C
NM_000057.4(BLM):c.2074+17G>C rs902634692
NM_000057.4(BLM):c.2074+18T>C rs2151160869
NM_000057.4(BLM):c.2074+31_2074+32insATCCCCCTCTGTGAGAAACACCCAAGAATGATCAATAAAAAAAAAAAAAAAAGAAAGAAAATAACATTCGTAACTTTGAGGAAACAGAATAAATAGGAGATTTATTAAATAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGTGAATTGGCAGGAA rs1567042315
NM_000057.4(BLM):c.2074+7A>G rs1279559326
NM_000057.4(BLM):c.2074+9T>A rs2151160844
NM_000057.4(BLM):c.2075-15A>C
NM_000057.4(BLM):c.2075-16del
NM_000057.4(BLM):c.2075-18T>G rs2151162302
NM_000057.4(BLM):c.2075-6T>G
NM_000057.4(BLM):c.2075-7C>T
NM_000057.4(BLM):c.2075-8T>C
NM_000057.4(BLM):c.2075-9C>G rs1449433488
NM_000057.4(BLM):c.2076A>G (p.Gly692=)
NM_000057.4(BLM):c.2088T>C (p.Ser696=) rs2151162337
NM_000057.4(BLM):c.2091G>A (p.Leu697=) rs2151162344
NM_000057.4(BLM):c.2103C>A (p.Leu701=) rs1596234139
NM_000057.4(BLM):c.2103C>T (p.Leu701=) rs1596234139
NM_000057.4(BLM):c.2109C>A (p.Ala703=)
NM_000057.4(BLM):c.210C>T (p.Asp70=)
NM_000057.4(BLM):c.2115T>A (p.Val705=) rs142787700
NM_000057.4(BLM):c.2121T>C (p.Pro707=)
NM_000057.4(BLM):c.2127C>T (p.Val709=) rs2151162440
NM_000057.4(BLM):c.2148G>A (p.Leu716=) rs2151162471
NM_000057.4(BLM):c.2163A>G (p.Val721=)
NM_000057.4(BLM):c.2172C>T (p.Val724=) rs2151162509
NM_000057.4(BLM):c.2181G>T (p.Leu727=) rs2151162511
NM_000057.4(BLM):c.2188T>C (p.Leu730=) rs2151162528
NM_000057.4(BLM):c.2193+15T>C
NM_000057.4(BLM):c.2193+16A>C rs1567043236
NM_000057.4(BLM):c.2193+16A>G
NM_000057.4(BLM):c.2193+17C>A
NM_000057.4(BLM):c.2193+8A>G rs2151162549
NM_000057.4(BLM):c.2194-12T>A
NM_000057.4(BLM):c.2194-13C>A
NM_000057.4(BLM):c.2194-16C>A
NM_000057.4(BLM):c.2194-16C>T
NM_000057.4(BLM):c.2194-17A>G rs755003821
NM_000057.4(BLM):c.2194-7T>C
NM_000057.4(BLM):c.2194-8A>C
NM_000057.4(BLM):c.2194-8A>G rs1896143206
NM_000057.4(BLM):c.2199A>G (p.Pro733=)
NM_000057.4(BLM):c.2205A>G (p.Thr735=) rs757134420
NM_000057.4(BLM):c.2205A>T (p.Thr735=) rs757134420
NM_000057.4(BLM):c.2209C>T (p.Leu737=) rs901867383
NM_000057.4(BLM):c.2211G>T (p.Leu737=) rs933356579
NM_000057.4(BLM):c.2214A>G (p.Thr738=)
NM_000057.4(BLM):c.2217T>C (p.Gly739=)
NM_000057.4(BLM):c.2217T>G (p.Gly739=) rs1217701232
NM_000057.4(BLM):c.2220T>C (p.Asp740=) rs2151163848
NM_000057.4(BLM):c.2226T>C (p.Thr742=) rs2151163862
NM_000057.4(BLM):c.2229C>T (p.Asp743=) rs889046632
NM_000057.4(BLM):c.222T>C (p.Ser74=) rs2151146878
NM_000057.4(BLM):c.2232A>G (p.Ser744=)
NM_000057.4(BLM):c.2235A>G (p.Glu745=) rs1596235875
NM_000057.4(BLM):c.2253C>A (p.Leu751=) rs2151163921
NM_000057.4(BLM):c.2253C>G (p.Leu751=) rs2151163921
NM_000057.4(BLM):c.2259A>G (p.Leu753=)
NM_000057.4(BLM):c.225A>G (p.Glu75=) rs2151146880
NM_000057.4(BLM):c.2265A>G (p.Lys755=) rs773864863
NM_000057.4(BLM):c.2277C>A (p.Ile759=)
NM_000057.4(BLM):c.2280A>C (p.Ile760=) rs1596236007
NM_000057.4(BLM):c.2287C>T (p.Leu763=) rs896043726
NM_000057.4(BLM):c.2289A>C (p.Leu763=) rs1567044034
NM_000057.4(BLM):c.2289A>T (p.Leu763=)
NM_000057.4(BLM):c.2298T>A (p.Thr766=) rs2151164033
NM_000057.4(BLM):c.2298T>C (p.Thr766=)
NM_000057.4(BLM):c.2301A>C (p.Pro767=)
NM_000057.4(BLM):c.2307+15C>A
NM_000057.4(BLM):c.2307+16A>G
NM_000057.4(BLM):c.2307+7A>G
NM_000057.4(BLM):c.2308-12T>C
NM_000057.4(BLM):c.2308-15G>A rs761194653
NM_000057.4(BLM):c.2308-20C>G
NM_000057.4(BLM):c.2308-9C>T rs771208627
NM_000057.4(BLM):c.2316A>G (p.Ala772=) rs752835659
NM_000057.4(BLM):c.231A>C (p.Leu77=)
NM_000057.4(BLM):c.231A>G (p.Leu77=) rs760696149
NM_000057.4(BLM):c.2337T>C (p.Thr779=) rs1896223602
NM_000057.4(BLM):c.2346T>C (p.Asn782=) rs2151165716
NM_000057.4(BLM):c.234C>G (p.Pro78=) rs970793829
NM_000057.4(BLM):c.234C>T (p.Pro78=) rs970793829
NM_000057.4(BLM):c.2352T>C (p.Tyr784=)
NM_000057.4(BLM):c.2358G>A (p.Arg786=)
NM_000057.4(BLM):c.2367G>A (p.Leu789=) rs1060500651
NM_000057.4(BLM):c.237C>T (p.Asn79=)
NM_000057.4(BLM):c.2385T>C (p.Asp795=)
NM_000057.4(BLM):c.2391A>C (p.Ala797=)
NM_000057.4(BLM):c.2391A>G (p.Ala797=)
NM_000057.4(BLM):c.2394T>C (p.His798=)
NM_000057.4(BLM):c.2400C>T (p.Val800=)
NM_000057.4(BLM):c.2406+10G>C
NM_000057.4(BLM):c.2406+11T>A
NM_000057.4(BLM):c.2406+11T>G rs1896228357
NM_000057.4(BLM):c.2406+14T>A
NM_000057.4(BLM):c.2406+19A>G rs2151165875
NM_000057.4(BLM):c.2406+5A>G rs763104913
NM_000057.4(BLM):c.2406+8C>G rs764181989
NM_000057.4(BLM):c.2406+8C>T rs764181989
NM_000057.4(BLM):c.2406+9T>A rs2151165855
NM_000057.4(BLM):c.2407-14T>A
NM_000057.4(BLM):c.2407-16T>G rs2151166035
NM_000057.4(BLM):c.2407-17T>C
NM_000057.4(BLM):c.2407-17_2407-16insG
NM_000057.4(BLM):c.2407-18A>T
NM_000057.4(BLM):c.2407-6A>T rs1478497820
NM_000057.4(BLM):c.2407-7C>G
NM_000057.4(BLM):c.2407-7C>T rs768836369
NM_000057.4(BLM):c.2407-8C>T
NM_000057.4(BLM):c.240C>T (p.Thr80=) rs1895606265
NM_000057.4(BLM):c.2415T>C (p.His805=) rs1896235784
NM_000057.4(BLM):c.2421T>C (p.Phe807=) rs2151166092
NM_000057.4(BLM):c.2433C>T (p.Tyr811=) rs377542595
NM_000057.4(BLM):c.2439A>G (p.Arg813=)
NM_000057.4(BLM):c.2454C>A (p.Arg818=) rs746409922
NM_000057.4(BLM):c.2469T>C (p.Ser823=) rs780438135
NM_000057.4(BLM):c.2472T>A (p.Val824=)
NM_000057.4(BLM):c.2475G>C (p.Pro825=) rs147587050
NM_000057.4(BLM):c.2478G>A (p.Val826=)
NM_000057.4(BLM):c.2490G>T (p.Thr830=)
NM_000057.4(BLM):c.2493C>T (p.Ala831=) rs2151166253
NM_000057.4(BLM):c.2496A>C (p.Thr832=) rs762840557
NM_000057.4(BLM):c.2499T>C (p.Ala833=)
NM_000057.4(BLM):c.249G>A (p.Gln83=) rs1430623511
NM_000057.4(BLM):c.2502T>C (p.Asn834=) rs2151166275
NM_000057.4(BLM):c.2508G>A (p.Arg836=) rs2151166304
NM_000057.4(BLM):c.2514G>A (p.Gln838=) rs2151166322
NM_000057.4(BLM):c.2520C>T (p.Asp840=)
NM_000057.4(BLM):c.2523C>T (p.Ile841=)
NM_000057.4(BLM):c.2529T>C (p.Thr843=) rs2151166372
NM_000057.4(BLM):c.2544C>G (p.Leu848=)
NM_000057.4(BLM):c.2555+10T>C rs2151166449
NM_000057.4(BLM):c.2555+13A>C
NM_000057.4(BLM):c.2555+13A>G
NM_000057.4(BLM):c.2555+13A>T
NM_000057.4(BLM):c.2555+15G>C rs376896850
NM_000057.4(BLM):c.2555+16_2555+17delinsAT rs2151166465
NM_000057.4(BLM):c.2555+17C>G rs747061490
NM_000057.4(BLM):c.2555+17C>T
NM_000057.4(BLM):c.2555+17del
NM_000057.4(BLM):c.2555+19C>A
NM_000057.4(BLM):c.2555+19C>T
NM_000057.4(BLM):c.2555+20G>C
NM_000057.4(BLM):c.2555+20G>T rs762930185
NM_000057.4(BLM):c.2555+7_2555+8inv
NM_000057.4(BLM):c.2556-10A>G
NM_000057.4(BLM):c.2556-11G>A
NM_000057.4(BLM):c.2556-11G>C
NM_000057.4(BLM):c.2556-12G>C rs2151177995
NM_000057.4(BLM):c.2556-18T>C
NM_000057.4(BLM):c.2556-19A>G
NM_000057.4(BLM):c.2556-19A>T
NM_000057.4(BLM):c.2556-7T>C
NM_000057.4(BLM):c.2556-8T>C rs1567052156
NM_000057.4(BLM):c.2556-8T>G rs1567052156
NM_000057.4(BLM):c.255G>A (p.Arg85=)
NM_000057.4(BLM):c.2583T>C (p.Asn861=) rs1896651230
NM_000057.4(BLM):c.2595T>C (p.Tyr865=) rs1060503989
NM_000057.4(BLM):c.2598A>G (p.Val866=) rs574053990
NM_000057.4(BLM):c.25C>T (p.Leu9=) rs1596215640
NM_000057.4(BLM):c.2622G>A (p.Val874=) rs760261440
NM_000057.4(BLM):c.2637A>G (p.Leu879=) rs1896653550
NM_000057.4(BLM):c.2640A>G (p.Glu880=) rs1301492880
NM_000057.4(BLM):c.2646C>T (p.Ile882=) rs760072975
NM_000057.4(BLM):c.2649A>G (p.Arg883=)
NM_000057.4(BLM):c.264C>T (p.Asp88=) rs757984551
NM_000057.4(BLM):c.2652G>A (p.Lys884=) rs1596250475
NM_000057.4(BLM):c.2662+11C>G
NM_000057.4(BLM):c.2662+11C>T
NM_000057.4(BLM):c.2662+14T>C
NM_000057.4(BLM):c.2662+15G>A rs1335538618
NM_000057.4(BLM):c.2662+18A>G rs2151178213
NM_000057.4(BLM):c.2662+19T>C
NM_000057.4(BLM):c.2662+20T>A rs2151178215
NM_000057.4(BLM):c.2663-12G>A rs2151179669
NM_000057.4(BLM):c.2663-15T>C rs1896705664
NM_000057.4(BLM):c.2663-4G>A rs2151179676
NM_000057.4(BLM):c.2663-6T>C rs2151179672
NM_000057.4(BLM):c.2688C>T (p.Leu896=) rs1488182321
NM_000057.4(BLM):c.2694G>A (p.Arg898=) rs2151179730
NM_000057.4(BLM):c.2695C>A (p.Arg899=)
NM_000057.4(BLM):c.2706C>T (p.Asp902=) rs1219646041
NM_000057.4(BLM):c.2709C>G (p.Thr903=) rs1555422522
NM_000057.4(BLM):c.2709C>T (p.Thr903=) rs1555422522
NM_000057.4(BLM):c.2715T>C (p.Ala905=)
NM_000057.4(BLM):c.2722T>C (p.Leu908=)
NM_000057.4(BLM):c.2724A>G (p.Leu908=) rs1052357089
NM_000057.4(BLM):c.2727G>A (p.Gln909=) rs2151179788
NM_000057.4(BLM):c.2730A>G (p.Arg910=)
NM_000057.4(BLM):c.2733T>C (p.Asp911=)
NM_000057.4(BLM):c.2739C>A (p.Leu913=) rs759223856
NM_000057.4(BLM):c.2742T>C (p.Ala914=)
NM_000057.4(BLM):c.2748T>G (p.Leu916=) rs2151179825
NM_000057.4(BLM):c.2757T>C (p.His919=) rs2151179837
NM_000057.4(BLM):c.2760T>C (p.Ala920=) rs1321253830
NM_000057.4(BLM):c.2760T>G (p.Ala920=) rs1321253830
NM_000057.4(BLM):c.2769T>C (p.Ser923=) rs1596252204
NM_000057.4(BLM):c.2775T>C (p.Ser925=) rs1596252208
NM_000057.4(BLM):c.2778C>G (p.Ala926=)
NM_000057.4(BLM):c.2790G>A (p.Val930=)
NM_000057.4(BLM):c.2793G>A (p.Gln931=) rs1192168118
NM_000057.4(BLM):c.27A>G (p.Leu9=) rs2151145006
NM_000057.4(BLM):c.2823+11T>A
NM_000057.4(BLM):c.2823+12A>G
NM_000057.4(BLM):c.2823+15G>C rs750620938
NM_000057.4(BLM):c.2823+19A>T
NM_000057.4(BLM):c.2823+20A>C
NM_000057.4(BLM):c.2823+21_2823+24del rs2151179993
NM_000057.4(BLM):c.2823+9T>C
NM_000057.4(BLM):c.2824-10T>C
NM_000057.4(BLM):c.2824-12C>T rs1314614444
NM_000057.4(BLM):c.2824-14T>C
NM_000057.4(BLM):c.2824-17T>G
NM_000057.4(BLM):c.2824-7A>G rs374616797
NM_000057.4(BLM):c.2824-7A>T rs374616797
NM_000057.4(BLM):c.2832T>C (p.Cys944=)
NM_000057.4(BLM):c.2835T>C (p.Ala945=)
NM_000057.4(BLM):c.2838A>T (p.Thr946=) rs200850440
NM_000057.4(BLM):c.2844A>G (p.Ala948=)
NM_000057.4(BLM):c.2859T>C (p.Ile953=)
NM_000057.4(BLM):c.2862C>T (p.Asp954=) rs907953613
NM_000057.4(BLM):c.2865A>G (p.Lys955=) rs1896882039
NM_000057.4(BLM):c.2874G>A (p.Val958=) rs2151184510
NM_000057.4(BLM):c.2877A>T (p.Arg959=)
NM_000057.4(BLM):c.2889T>C (p.His963=)
NM_000057.4(BLM):c.288A>G (p.Gly96=) rs2151147023
NM_000057.4(BLM):c.2892A>C (p.Ala964=) rs973389134
NM_000057.4(BLM):c.2892A>G (p.Ala964=) rs973389134
NM_000057.4(BLM):c.2895T>A (p.Ser965=) rs2151184545
NM_000057.4(BLM):c.2898C>T (p.Leu966=) rs201220226
NM_000057.4(BLM):c.2901T>A (p.Pro967=)
NM_000057.4(BLM):c.2934C>A (p.Gly978=) rs2151184603
NM_000057.4(BLM):c.2940T>C (p.Ala980=) rs1596257223
NM_000057.4(BLM):c.2940T>G (p.Ala980=) rs1596257223
NM_000057.4(BLM):c.2949T>C (p.Asp983=) rs2151184627
NM_000057.4(BLM):c.294A>G (p.Glu98=) rs2151147036
NM_000057.4(BLM):c.2952G>A (p.Gly984=)
NM_000057.4(BLM):c.2968C>T (p.Leu990=)
NM_000057.4(BLM):c.2970G>A (p.Leu990=)
NM_000057.4(BLM):c.2973T>C (p.Leu991=) rs2151184673
NM_000057.4(BLM):c.2982C>G (p.Thr994=) rs2151184697
NM_000057.4(BLM):c.2994G>A (p.Val998=) rs1596257300
NM_000057.4(BLM):c.300G>A (p.Gln100=) rs2151147068
NM_000057.4(BLM):c.3012T>C (p.Leu1004=) rs2151184763
NM_000057.4(BLM):c.3019+10G>T
NM_000057.4(BLM):c.3019+12T>G
NM_000057.4(BLM):c.3019+13C>T rs942808732
NM_000057.4(BLM):c.3019+14C>T
NM_000057.4(BLM):c.3019+15A>G
NM_000057.4(BLM):c.3019+19T>C rs1896890749
NM_000057.4(BLM):c.3019+20A>G
NM_000057.4(BLM):c.3019+23_3019+24del
NM_000057.4(BLM):c.3019+7T>A rs761087545
NM_000057.4(BLM):c.3019+9G>A rs771124658
NM_000057.4(BLM):c.3019+9G>C rs771124658
NM_000057.4(BLM):c.3020-11A>C rs1331229405
NM_000057.4(BLM):c.3020-16T>G
NM_000057.4(BLM):c.3020-19T>A rs1896970434
NM_000057.4(BLM):c.3020-19T>C
NM_000057.4(BLM):c.3020-20A>G rs2151187095
NM_000057.4(BLM):c.3020-4T>A
NM_000057.4(BLM):c.3020-4T>C
NM_000057.4(BLM):c.3020-4T>G
NM_000057.4(BLM):c.3020-7C>G rs1596259789
NM_000057.4(BLM):c.3020-7C>T rs1596259789
NM_000057.4(BLM):c.3036C>T (p.Asn1012=)
NM_000057.4(BLM):c.3039T>C (p.His1013=) rs747406569
NM_000057.4(BLM):c.3045A>G (p.Thr1015=) rs966206627
NM_000057.4(BLM):c.3048A>G (p.Arg1016=)
NM_000057.4(BLM):c.3057C>T (p.His1019=) rs539573731
NM_000057.4(BLM):c.3081A>G (p.Val1027=)
NM_000057.4(BLM):c.3087C>T (p.Tyr1029=)
NM_000057.4(BLM):c.3093A>G (p.Glu1031=) rs2151187267
NM_000057.4(BLM):c.30G>A (p.Gln10=) rs2151145010
NM_000057.4(BLM):c.3120G>A (p.Gln1040=) rs1567058364
NM_000057.4(BLM):c.3129C>T (p.Ala1043=) rs1896977206
NM_000057.4(BLM):c.312A>G (p.Ser104=) rs2151147095
NM_000057.4(BLM):c.3132C>T (p.Tyr1044=) rs2151187348
NM_000057.4(BLM):c.3135T>C (p.Phe1045=) rs1596260013
NM_000057.4(BLM):c.3141A>G (p.Glu1047=) rs1596260028
NM_000057.4(BLM):c.3147A>G (p.Gly1049=)
NM_000057.4(BLM):c.3153T>C (p.Asn1051=) rs1262516507
NM_000057.4(BLM):c.315A>G (p.Lys105=) rs2151147097
NM_000057.4(BLM):c.3171A>G (p.Lys1057=) rs2151187399
NM_000057.4(BLM):c.3174C>T (p.His1058=)
NM_000057.4(BLM):c.3180T>C (p.Asp1060=) rs749458622
NM_000057.4(BLM):c.3186T>A (p.Ser1062=) rs774258877
NM_000057.4(BLM):c.3189T>C (p.Cys1063=)
NM_000057.4(BLM):c.318A>C (p.Ser106=) rs2151147103
NM_000057.4(BLM):c.3201T>C (p.Cys1067=)
NM_000057.4(BLM):c.3207A>G (p.Thr1069=)
NM_000057.4(BLM):c.3210+10_3210+11del
NM_000057.4(BLM):c.3210+11_3210+13del rs1896980675
NM_000057.4(BLM):c.3210+14T>G rs2151187475
NM_000057.4(BLM):c.3210+15T>G
NM_000057.4(BLM):c.3210+16T>G
NM_000057.4(BLM):c.3210+17T>C
NM_000057.4(BLM):c.3210+20A>C rs2151187481
NM_000057.4(BLM):c.3210+8A>G
NM_000057.4(BLM):c.3211-14_3211-13del
NM_000057.4(BLM):c.3211-4A>G rs2151190224
NM_000057.4(BLM):c.3211-5C>G
NM_000057.4(BLM):c.3211-7T>A
NM_000057.4(BLM):c.3211-8A>C rs2151190221
NM_000057.4(BLM):c.3211-8A>G
NM_000057.4(BLM):c.3213T>C (p.Asp1071=) rs2151190236
NM_000057.4(BLM):c.322T>C (p.Leu108=) rs1596218180
NM_000057.4(BLM):c.3231G>C (p.Val1077=)
NM_000057.4(BLM):c.3234T>C (p.Thr1078=) rs2151190271
NM_000057.4(BLM):c.3249T>C (p.Ser1083=) rs763642876
NM_000057.4(BLM):c.3261T>C (p.Phe1087=)
NM_000057.4(BLM):c.3279A>G (p.Ser1093=)
NM_000057.4(BLM):c.327A>G (p.Pro109=) rs2151147129
NM_000057.4(BLM):c.3288A>G (p.Gly1096=) rs1897079440
NM_000057.4(BLM):c.3306T>C (p.His1102=)
NM_000057.4(BLM):c.3309A>C (p.Val1103=) rs772290769
NM_000057.4(BLM):c.3315T>C (p.Pro1105=) rs2151190437
NM_000057.4(BLM):c.3330T>A (p.Thr1110=)
NM_000057.4(BLM):c.333C>T (p.Phe111=) rs1895610686
NM_000057.4(BLM):c.3340C>T (p.Leu1114=) rs1567060305
NM_000057.4(BLM):c.3345C>G (p.Val1115=) rs773893026
NM_000057.4(BLM):c.3355T>C (p.Leu1119=) rs201847046
NM_000057.4(BLM):c.3358+10C>G rs2151190528
NM_000057.4(BLM):c.3358+13T>C
NM_000057.4(BLM):c.3358+16T>G rs766854886
NM_000057.4(BLM):c.3358+18A>C
NM_000057.4(BLM):c.3358+7C>T rs2151190522
NM_000057.4(BLM):c.3358+7_3358+13del rs1555423799
NM_000057.4(BLM):c.3358+9T>C rs1555423800
NM_000057.4(BLM):c.3359-10T>G rs2151194125
NM_000057.4(BLM):c.3359-15G>A rs2151194113
NM_000057.4(BLM):c.3359-16T>G
NM_000057.4(BLM):c.3359-18C>T rs2151194105
NM_000057.4(BLM):c.3359-19T>C rs2151194101
NM_000057.4(BLM):c.3359-4T>A rs2151194132
NM_000057.4(BLM):c.3359-5A>G rs1278436608
NM_000057.4(BLM):c.3359-6T>C
NM_000057.4(BLM):c.3359-7T>A
NM_000057.4(BLM):c.3359-7T>C
NM_000057.4(BLM):c.3359-8C>G rs2151194128
NM_000057.4(BLM):c.3360G>A (p.Gly1120=) rs1567062602
NM_000057.4(BLM):c.3360G>T (p.Gly1120=) rs1567062602
NM_000057.4(BLM):c.3372A>G (p.Ala1124=) rs1897212519
NM_000057.4(BLM):c.3384A>G (p.Ser1128=) rs2151194181
NM_000057.4(BLM):c.3399A>G (p.Lys1133=) rs2151194213
NM_000057.4(BLM):c.339G>A (p.Gln113=)
NM_000057.4(BLM):c.33G>A (p.Glu11=) rs1895533244
NM_000057.4(BLM):c.3411T>C (p.Tyr1137=)
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro) rs771776126
NM_000057.4(BLM):c.3426C>G (p.Ala1142=) rs147148171
NM_000057.4(BLM):c.342T>C (p.Thr114=) rs746257638
NM_000057.4(BLM):c.3447G>A (p.Leu1149=) rs1195487968
NM_000057.4(BLM):c.3450A>T (p.Ile1150=)
NM_000057.4(BLM):c.345G>C (p.Pro115=) rs374578971
NM_000057.4(BLM):c.3477A>G (p.Leu1159=) rs2151194319
NM_000057.4(BLM):c.3486T>C (p.Asn1162=)
NM_000057.4(BLM):c.348G>A (p.Lys116=) rs749535664
NM_000057.4(BLM):c.3495C>G (p.Asp1165Glu) rs767536788
NM_000057.4(BLM):c.3495C>T (p.Asp1165=)
NM_000057.4(BLM):c.3498G>A (p.Gln1166=)
NM_000057.4(BLM):c.3501G>T (p.Ala1167=) rs752559933
NM_000057.4(BLM):c.3504C>A (p.Ile1168=) rs758199564
NM_000057.4(BLM):c.3519C>A (p.Leu1173=)
NM_000057.4(BLM):c.3525T>C (p.Asn1175=)
NM_000057.4(BLM):c.3531C>T (p.Ala1177=) rs2227934
NM_000057.4(BLM):c.3541C>T (p.Leu1181=)
NM_000057.4(BLM):c.3546T>C (p.Asn1182=) rs1596267753
NM_000057.4(BLM):c.3549C>A (p.Gly1183=)
NM_000057.4(BLM):c.3552T>C (p.Asn1184=)
NM_000057.4(BLM):c.3555A>G (p.Leu1185=)
NM_000057.4(BLM):c.3558+10T>C
NM_000057.4(BLM):c.3558+12_3558+13del rs773935119
NM_000057.4(BLM):c.3558+18T>A rs2151194478
NM_000057.4(BLM):c.3558+24_3558+28del rs745676299
NM_000057.4(BLM):c.3558+8A>G rs1567062884
NM_000057.4(BLM):c.3558+9T>C
NM_000057.4(BLM):c.3559-11C>G
NM_000057.4(BLM):c.3559-13C>A rs368473682
NM_000057.4(BLM):c.3559-13C>T
NM_000057.4(BLM):c.3559-14TC[3]
NM_000057.4(BLM):c.3559-15T>C
NM_000057.4(BLM):c.3559-16T>C
NM_000057.4(BLM):c.3559-17G>A
NM_000057.4(BLM):c.3559-18T>C
NM_000057.4(BLM):c.3559-4A>G rs760756587
NM_000057.4(BLM):c.3559-6A>C rs773492985
NM_000057.4(BLM):c.3559-6A>G rs773492985
NM_000057.4(BLM):c.3559-7C>A rs772254909
NM_000057.4(BLM):c.3559-7C>T rs772254909
NM_000057.4(BLM):c.3559-9C>T
NM_000057.4(BLM):c.3561A>T (p.Val1187=) rs762924653
NM_000057.4(BLM):c.3564C>T (p.Asp1188=)
NM_000057.4(BLM):c.357A>G (p.Val119=)
NM_000057.4(BLM):c.357A>T (p.Val119=) rs1279217509
NM_000057.4(BLM):c.3591T>C (p.Ser1197=) rs1596268143
NM_000057.4(BLM):c.3603A>G (p.Gln1201=) rs2151194830
NM_000057.4(BLM):c.3606A>G (p.Lys1202=)
NM_000057.4(BLM):c.3609G>C (p.Ala1203=) rs151114049
NM_000057.4(BLM):c.3618A>C (p.Ala1206=) rs1384318181
NM_000057.4(BLM):c.3618A>G (p.Ala1206=)
NM_000057.4(BLM):c.3636A>G (p.Glu1212=) rs1897234564
NM_000057.4(BLM):c.3639G>A (p.Glu1213=)
NM_000057.4(BLM):c.3651A>G (p.Lys1217=) rs587779887
NM_000057.4(BLM):c.3654T>C (p.Cys1218=) rs2151194910
NM_000057.4(BLM):c.3657T>C (p.Leu1219=)
NM_000057.4(BLM):c.3663A>G (p.Glu1221=)
NM_000057.4(BLM):c.3666T>A (p.Leu1222=) rs1301144106
NM_000057.4(BLM):c.3702T>C (p.Gly1234=) rs2151194969
NM_000057.4(BLM):c.3717T>C (p.Asn1239=)
NM_000057.4(BLM):c.3726T>C (p.Asn1242=) rs1567063258
NM_000057.4(BLM):c.3735T>A (p.Thr1245=)
NM_000057.4(BLM):c.3735T>G (p.Thr1245=)
NM_000057.4(BLM):c.3741G>A (p.Lys1247=) rs2151195000
NM_000057.4(BLM):c.3744G>A (p.Lys1248=) rs1596268347
NM_000057.4(BLM):c.3747T>A (p.Leu1249=) rs776748831
NM_000057.4(BLM):c.3751+10C>A rs199685140
NM_000057.4(BLM):c.3751+10C>G rs199685140
NM_000057.4(BLM):c.3751+11A>G rs1275107089
NM_000057.4(BLM):c.3751+11del
NM_000057.4(BLM):c.3751+12T>C
NM_000057.4(BLM):c.3751+13G>T rs2151195051
NM_000057.4(BLM):c.3751+14T>C rs2151195056
NM_000057.4(BLM):c.3751+15A>G
NM_000057.4(BLM):c.3751+17C>T
NM_000057.4(BLM):c.3751+18C>G rs2151195059
NM_000057.4(BLM):c.3751+18C>T
NM_000057.4(BLM):c.3751+21del
NM_000057.4(BLM):c.3751+7dup
NM_000057.4(BLM):c.3751+8C>T rs765243972
NM_000057.4(BLM):c.3752-10C>T
NM_000057.4(BLM):c.3752-12G>T
NM_000057.4(BLM):c.3752-14A>G
NM_000057.4(BLM):c.3752-14A>T rs1897346689
NM_000057.4(BLM):c.3752-15T>G
NM_000057.4(BLM):c.3752-18T>C rs1897346458
NM_000057.4(BLM):c.3752-4A>G rs1489122577
NM_000057.4(BLM):c.3752-5C>A
NM_000057.4(BLM):c.3752-5C>T rs2151198253
NM_000057.4(BLM):c.3752-8T>C rs1897346891
NM_000057.4(BLM):c.3752-9T>C
NM_000057.4(BLM):c.3759A>G (p.Leu1253=) rs1596271761
NM_000057.4(BLM):c.3768T>C (p.Asp1256=) rs2151198276
NM_000057.4(BLM):c.3774G>A (p.Glu1258=) rs1596271783
NM_000057.4(BLM):c.3777T>A (p.Val1259=) rs2151198287
NM_000057.4(BLM):c.3778T>C (p.Leu1260=) rs2151198289
NM_000057.4(BLM):c.378A>G (p.Pro126=)
NM_000057.4(BLM):c.3798T>C (p.Val1266=)
NM_000057.4(BLM):c.3801T>G (p.Thr1267=)
NM_000057.4(BLM):c.3810A>G (p.Lys1270=)
NM_000057.4(BLM):c.3831A>G (p.Glu1277=) rs2151198335
NM_000057.4(BLM):c.3834G>C (p.Val1278=) rs2151198344
NM_000057.4(BLM):c.3834G>T (p.Val1278=)
NM_000057.4(BLM):c.3843A>G (p.Val1281=) rs764839828
NM_000057.4(BLM):c.3844T>C (p.Leu1282=)
NM_000057.4(BLM):c.384A>G (p.Val128=) rs2151147254
NM_000057.4(BLM):c.3855C>T (p.Tyr1285=) rs1057516728
NM_000057.4(BLM):c.3861A>G (p.Glu1287=) rs977539638
NM_000057.4(BLM):c.3870G>A (p.Ser1290=) rs1250145765
NM_000057.4(BLM):c.3870G>T (p.Ser1290=)
NM_000057.4(BLM):c.3874+10C>A
NM_000057.4(BLM):c.3874+10C>T rs746130539
NM_000057.4(BLM):c.3874+11del
NM_000057.4(BLM):c.3874+13C>G
NM_000057.4(BLM):c.3874+13C>T rs1415763304
NM_000057.4(BLM):c.3874+15A>G
NM_000057.4(BLM):c.3874+16T>C
NM_000057.4(BLM):c.3874+16TG[2] rs2151198446
NM_000057.4(BLM):c.3874+17G>T rs773040544
NM_000057.4(BLM):c.3874+20T>A
NM_000057.4(BLM):c.3874+3T>C rs2151198427
NM_000057.4(BLM):c.3875-14T>C rs1897405940
NM_000057.4(BLM):c.3875-19C>A rs746113158
NM_000057.4(BLM):c.3875-20T>A
NM_000057.4(BLM):c.3875-7T>C rs2151199681
NM_000057.4(BLM):c.3875-8A>C rs1897406255
NM_000057.4(BLM):c.3876T>C (p.Ala1292=) rs1596273405
NM_000057.4(BLM):c.387_389del (p.Lys130del) rs587778105
NM_000057.4(BLM):c.3882C>T (p.Asp1294=)
NM_000057.4(BLM):c.3885T>C (p.Ser1295=)
NM_000057.4(BLM):c.3888C>A (p.Ser1296=) rs2151199719
NM_000057.4(BLM):c.3894G>A (p.Gly1298=)
NM_000057.4(BLM):c.3894G>C (p.Gly1298=) rs1596273453
NM_000057.4(BLM):c.3897A>C (p.Ile1299=)
NM_000057.4(BLM):c.3900C>T (p.Ser1300=) rs769564626
NM_000057.4(BLM):c.3901C>T (p.Leu1301=)
NM_000057.4(BLM):c.3906C>A (p.Ser1302=) rs2151199747
NM_000057.4(BLM):c.3906C>T (p.Ser1302=)
NM_000057.4(BLM):c.3909C>T (p.Ser1303=) rs1897408551
NM_000057.4(BLM):c.3912C>T (p.Ser1304=)
NM_000057.4(BLM):c.3918C>T (p.Gly1306=) rs1393792078
NM_000057.4(BLM):c.3921C>G (p.Pro1307=)
NM_000057.4(BLM):c.3936T>A (p.Ala1312=) rs1034211979
NM_000057.4(BLM):c.3936T>C (p.Ala1312=) rs1034211979
NM_000057.4(BLM):c.3936T>G (p.Ala1312=)
NM_000057.4(BLM):c.3939G>A (p.Glu1313=) rs2151199812
NM_000057.4(BLM):c.393C>T (p.Ser131=) rs1596218349
NM_000057.4(BLM):c.3945C>G (p.Leu1315=)
NM_000057.4(BLM):c.3948C>T (p.Asp1316=) rs375896520
NM_000057.4(BLM):c.3957A>T (p.Ile1319=) rs1555425082
NM_000057.4(BLM):c.3960C>G (p.Pro1320=)
NM_000057.4(BLM):c.3963A>G (p.Val1321=) rs1325601639
NM_000057.4(BLM):c.396G>A (p.Arg132=) rs2151147285
NM_000057.4(BLM):c.3978T>C (p.Phe1326=) rs1265868495
NM_000057.4(BLM):c.3990C>G (p.Thr1330=) rs2151199889
NM_000057.4(BLM):c.3990C>T (p.Thr1330=) rs2151199889
NM_000057.4(BLM):c.399T>C (p.Asp133=)
NM_000057.4(BLM):c.4002G>A (p.Arg1334=)
NM_000057.4(BLM):c.4005G>A (p.Lys1335=) rs1449845656
NM_000057.4(BLM):c.4023C>A (p.Ala1341=) rs1596273681
NM_000057.4(BLM):c.4026C>T (p.Ser1342=) rs766689783
NM_000057.4(BLM):c.4029A>G (p.Gln1343=) rs1596273696
NM_000057.4(BLM):c.4038G>A (p.Lys1346=) rs2151199967
NM_000057.4(BLM):c.4041G>A (p.Arg1347=)
NM_000057.4(BLM):c.4050T>C (p.Thr1350=)
NM_000057.4(BLM):c.4068G>A (p.Lys1356=) rs587779890
NM_000057.4(BLM):c.4074G>A (p.Lys1358=)
NM_000057.4(BLM):c.4076+10G>A rs376445417
NM_000057.4(BLM):c.4076+10G>C rs376445417
NM_000057.4(BLM):c.4076+15A>G rs1897418799
NM_000057.4(BLM):c.4076+17C>A rs2151200054
NM_000057.4(BLM):c.4076+17C>G
NM_000057.4(BLM):c.4076+19T>C
NM_000057.4(BLM):c.4076+9T>C rs1272366101
NM_000057.4(BLM):c.4077-11T>C
NM_000057.4(BLM):c.4077-13dup
NM_000057.4(BLM):c.4077-17T>C
NM_000057.4(BLM):c.4077-6T>A
NM_000057.4(BLM):c.4077-8C>T rs2151202218
NM_000057.4(BLM):c.4077-9A>G
NM_000057.4(BLM):c.4080G>T (p.Gly1360=)
NM_000057.4(BLM):c.4089A>G (p.Thr1363=) rs2151202237
NM_000057.4(BLM):c.4089A>T (p.Thr1363=) rs2151202237
NM_000057.4(BLM):c.4098G>A (p.Lys1366=)
NM_000057.4(BLM):c.4104T>G (p.Ser1368=) rs2151202259
NM_000057.4(BLM):c.4107C>T (p.Ser1369=)
NM_000057.4(BLM):c.4110A>G (p.Lys1370=) rs1555425406
NM_000057.4(BLM):c.4113G>T (p.Thr1371=) rs61754135
NM_000057.4(BLM):c.4116A>G (p.Lys1372=) rs753664070
NM_000057.4(BLM):c.4119C>T (p.Ser1373=) rs1210181566
NM_000057.4(BLM):c.411G>A (p.Lys137=)
NM_000057.4(BLM):c.4122C>T (p.Ser1374=) rs145277875
NM_000057.4(BLM):c.4125C>T (p.Ser1375=)
NM_000057.4(BLM):c.4131T>C (p.Ile1377=)
NM_000057.4(BLM):c.4134A>T (p.Gly1378=) rs2151202294
NM_000057.4(BLM):c.4140T>C (p.Ser1380=) rs747834576
NM_000057.4(BLM):c.4146C>T (p.Ala1382=)
NM_000057.4(BLM):c.4155T>C (p.Thr1385=)
NM_000057.4(BLM):c.4158T>A (p.Ser1386=) rs746522338
NM_000057.4(BLM):c.4164G>A (p.Ala1388=) rs1429829646
NM_000057.4(BLM):c.4164G>C (p.Ala1388=)
NM_000057.4(BLM):c.4164G>T (p.Ala1388=) rs1429829646
NM_000057.4(BLM):c.4167A>C (p.Thr1389=) rs2151202360
NM_000057.4(BLM):c.4170A>G (p.Ser1390=)
NM_000057.4(BLM):c.4176C>T (p.Ala1392=)
NM_000057.4(BLM):c.4179T>C (p.Asn1393=) rs1596276561
NM_000057.4(BLM):c.4191G>A (p.Gly1397=) rs1596276580
NM_000057.4(BLM):c.4200T>C (p.Ala1400=) rs1596276585
NM_000057.4(BLM):c.4209G>A (p.Lys1403=) rs1254277623
NM_000057.4(BLM):c.420A>G (p.Glu140=) rs1895615618
NM_000057.4(BLM):c.4215A>T (p.Ile1405=) rs1596276635
NM_000057.4(BLM):c.4218T>C (p.Asn1406=) rs2151202425
NM_000057.4(BLM):c.4233G>A (p.Lys1411=) rs2151202450
NM_000057.4(BLM):c.4242T>C (p.Tyr1414=) rs2151202466
NM_000057.4(BLM):c.4248C>T (p.Phe1416=) rs1567069125
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.4251A>G (p.Ser1417=) rs886051553
NM_000057.4(BLM):c.4251A>T (p.Ser1417=)
NM_000057.4(BLM):c.426T>C (p.Ser142=) rs2151147337
NM_000057.4(BLM):c.42A>G (p.Glu14=) rs2151145021
NM_000057.4(BLM):c.432A>G (p.Ser144=)
NM_000057.4(BLM):c.435A>G (p.Pro145=)
NM_000057.4(BLM):c.444A>G (p.Leu148=)
NM_000057.4(BLM):c.456T>C (p.Asn152=) rs1316621251
NM_000057.4(BLM):c.459T>C (p.Asp153=) rs779259379
NM_000057.4(BLM):c.45T>A (p.Arg15=) rs1458732220
NM_000057.4(BLM):c.468T>C (p.Asp156=)
NM_000057.4(BLM):c.477C>T (p.Asp159=) rs1276097571
NM_000057.4(BLM):c.480T>C (p.Phe160=) rs1251281091
NM_000057.4(BLM):c.483T>C (p.Asp161=) rs2151147439
NM_000057.4(BLM):c.486T>C (p.Thr162=) rs1596218608
NM_000057.4(BLM):c.489T>C (p.Ser163=) rs781044650
NM_000057.4(BLM):c.48C>T (p.His16=) rs757172775
NM_000057.4(BLM):c.498A>G (p.Ser166=)
NM_000057.4(BLM):c.501A>G (p.Lys167=) rs1895621474
NM_000057.4(BLM):c.504A>T (p.Ser168=) rs1596218655
NM_000057.4(BLM):c.510T>C (p.Val170=)
NM_000057.4(BLM):c.510T>G (p.Val170=)
NM_000057.4(BLM):c.513A>G (p.Thr171=)
NM_000057.4(BLM):c.513A>T (p.Thr171=) rs2151147499
NM_000057.4(BLM):c.531T>C (p.Phe177=)
NM_000057.4(BLM):c.540A>C (p.Val180=) rs763776756
NM_000057.4(BLM):c.543C>T (p.Ser181=) rs761288442
NM_000057.4(BLM):c.555A>G (p.Lys185=) rs766947105
NM_000057.4(BLM):c.558A>G (p.Ser186=) rs982183816
NM_000057.4(BLM):c.561A>G (p.Lys187=) rs2151147608
NM_000057.4(BLM):c.564G>A (p.Lys188=) rs1596218841
NM_000057.4(BLM):c.570G>A (p.Lys190=) rs2151147630
NM_000057.4(BLM):c.573A>G (p.Arg191=)
NM_000057.4(BLM):c.579T>C (p.Phe193=)
NM_000057.4(BLM):c.582T>C (p.Phe194=) rs1895626638
NM_000057.4(BLM):c.588A>G (p.Ala196=)
NM_000057.4(BLM):c.600A>C (p.Thr200=) rs1427442721
NM_000057.4(BLM):c.600A>G (p.Thr200=)
NM_000057.4(BLM):c.612A>G (p.Val204=) rs2151147738
NM_000057.4(BLM):c.624G>A (p.Leu208=)
NM_000057.4(BLM):c.627T>C (p.Pro209=)
NM_000057.4(BLM):c.633C>A (p.Pro211=)
NM_000057.4(BLM):c.633C>T (p.Pro211=) rs2151147807
NM_000057.4(BLM):c.636C>G (p.Ser212=)
NM_000057.4(BLM):c.648G>A (p.Glu216=) rs1208450024
NM_000057.4(BLM):c.651A>G (p.Gln217=)
NM_000057.4(BLM):c.666G>A (p.Glu222=) rs1419771771
NM_000057.4(BLM):c.672G>A (p.Gln224=) rs1596219135
NM_000057.4(BLM):c.675G>A (p.Lys225=) rs2151147912
NM_000057.4(BLM):c.678T>C (p.Asp226=)
NM_000057.4(BLM):c.691T>C (p.Leu231=)
NM_000057.4(BLM):c.699C>T (p.Ser233=) rs200125311
NM_000057.4(BLM):c.714C>T (p.Ile238=)
NM_000057.4(BLM):c.726C>A (p.Pro242=) rs2151148064
NM_000057.4(BLM):c.726C>T (p.Pro242=) rs2151148064
NM_000057.4(BLM):c.732T>C (p.Ala244=) rs2151148080
NM_000057.4(BLM):c.738G>A (p.Val246=) rs2151148091
NM_000057.4(BLM):c.756T>C (p.Ala252=) rs1895638603
NM_000057.4(BLM):c.75A>G (p.Leu25=) rs1276887266
NM_000057.4(BLM):c.762A>G (p.Glu254=)
NM_000057.4(BLM):c.768C>T (p.Asp256=) rs765788538
NM_000057.4(BLM):c.789A>G (p.Glu263=) rs1596219365
NM_000057.4(BLM):c.795A>G (p.Glu265=) rs2151148221
NM_000057.4(BLM):c.799+12T>C
NM_000057.4(BLM):c.799+14T>A
NM_000057.4(BLM):c.799+15A>G rs2151148258
NM_000057.4(BLM):c.799+17C>T
NM_000057.4(BLM):c.799+7_799+10del rs1218966283
NM_000057.4(BLM):c.800-11T>C
NM_000057.4(BLM):c.800-13T>G
NM_000057.4(BLM):c.800-14C>T
NM_000057.4(BLM):c.800-15A>T
NM_000057.4(BLM):c.800-18_800-17delinsAA rs2151149459
NM_000057.4(BLM):c.800-20T>C
NM_000057.4(BLM):c.800-20_800-18del rs2151149455
NM_000057.4(BLM):c.800-4G>A rs1338362749
NM_000057.4(BLM):c.800-5T>C rs1596220949
NM_000057.4(BLM):c.800-9T>C
NM_000057.4(BLM):c.804T>C (p.Asn268=)
NM_000057.4(BLM):c.810A>G (p.Glu270=) rs1596220978
NM_000057.4(BLM):c.822T>C (p.Asn274=) rs1596221010
NM_000057.4(BLM):c.823T>C (p.Leu275=)
NM_000057.4(BLM):c.837A>G (p.Glu279=) rs756158096
NM_000057.4(BLM):c.84A>G (p.Ser28=) rs1166385360
NM_000057.4(BLM):c.852G>A (p.Glu284=) rs2151149592
NM_000057.4(BLM):c.855A>G (p.Lys285=)
NM_000057.4(BLM):c.861A>G (p.Pro287=) rs1555418666
NM_000057.4(BLM):c.873T>C (p.Phe291=) rs1006578287
NM_000057.4(BLM):c.876T>C (p.Asp292=) rs1336155306
NM_000057.4(BLM):c.87A>G (p.Lys29=) rs1895535691
NM_000057.4(BLM):c.882T>C (p.Asp294=) rs201168622
NM_000057.4(BLM):c.891T>C (p.Asp297=) rs2151149684
NM_000057.4(BLM):c.903T>A (p.Val301=) rs2151149711
NM_000057.4(BLM):c.903T>C (p.Val301=) rs2151149711
NM_000057.4(BLM):c.909T>G (p.Pro303=)
NM_000057.4(BLM):c.90A>G (p.Pro30=) rs2151145112
NM_000057.4(BLM):c.930T>C (p.Ser310=) rs1471248156
NM_000057.4(BLM):c.93A>G (p.Lys31=) rs2151145115
NM_000057.4(BLM):c.942C>G (p.Ser314=)
NM_000057.4(BLM):c.945T>C (p.Ser315=) rs2151149787
NM_000057.4(BLM):c.959+10C>A rs2151149826
NM_000057.4(BLM):c.959+12A>G
NM_000057.4(BLM):c.959+19T>C
NM_000057.4(BLM):c.959+20A>G
NM_000057.4(BLM):c.959+20A>T
NM_000057.4(BLM):c.959+9G>C
NM_000057.4(BLM):c.960-10T>G
NM_000057.4(BLM):c.960-16T>A
NM_000057.4(BLM):c.960-17A>T rs1567037887
NM_000057.4(BLM):c.960-3C>T rs878962653
NM_000057.4(BLM):c.960-4G>A rs1555418976
NM_000057.4(BLM):c.960-7T>C rs2151152020
NM_000057.4(BLM):c.960-9T>A
NM_000057.4(BLM):c.960-9dup rs758366991
NM_000057.4(BLM):c.966A>G (p.Leu322=) rs1361231725
NM_000057.4(BLM):c.96T>C (p.Phe32=) rs2151145118
NM_000057.4(BLM):c.972C>T (p.Asp324=) rs769094708
NM_000057.4(BLM):c.975T>C (p.Leu325=)
NM_000057.4(BLM):c.98+15T>C rs2151145139
NM_000057.4(BLM):c.98+16G>A
NM_000057.4(BLM):c.98+7G>A
NM_000057.4(BLM):c.981C>G (p.Thr327=) rs1140119
NM_000057.4(BLM):c.981C>T (p.Thr327=) rs1140119
NM_000057.4(BLM):c.99-15T>C rs2151146672
NM_000057.4(BLM):c.99-20G>A
NM_000057.4(BLM):c.99-20G>C
NM_000057.4(BLM):c.99-9A>T rs1419730289
NM_000057.4(BLM):c.99-9_99-7del rs1229333064
NM_000057.4(BLM):c.990A>G (p.Arg330=)
NM_000057.4(BLM):c.993A>G (p.Lys331=) rs2151152140
NM_000057.4(BLM):c.996G>A (p.Glu332=) rs2151152149
NM_000057.4(BLM):c.9T>C (p.Ala3=) rs1596215598

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