ClinVar Miner

List of variants studied for Tay-Sachs disease by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 939
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_000520.6(HEXA):c.1146+8G>A rs201453018 0.00167
NM_000520.6(HEXA):c.69C>G (p.Leu23=) rs143554538 0.00107
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_000520.6(HEXA):c.1338T>C (p.Pro446=) rs34085965 0.00029
NM_000520.6(HEXA):c.1073+1G>A rs76173977 0.00021
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578 0.00019
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769 0.00019
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu) rs148511084 0.00018
NM_000520.6(HEXA):c.517C>T (p.Leu173=) rs200743199 0.00017
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly) rs761736583 0.00016
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306 0.00016
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val) rs151251788 0.00015
NM_000520.6(HEXA):c.1443C>T (p.Ala481=) rs140091006 0.00015
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954 0.00015
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) rs370266293 0.00012
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) rs369117208 0.00012
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro) rs146938346 0.00011
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406 0.00011
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496 0.00011
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys) rs148199798 0.00011
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) rs778947516 0.00010
NM_000520.6(HEXA):c.1330+16T>G rs371435283 0.00009
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836 0.00009
NM_000520.6(HEXA):c.38C>T (p.Ala13Val) rs145666272 0.00009
NM_000520.6(HEXA):c.459+5G>A rs762060470 0.00009
NM_000520.6(HEXA):c.855C>T (p.Gly285=) rs768518776 0.00008
NM_000520.6(HEXA):c.102C>T (p.Asp34=) rs377310315 0.00007
NM_000520.6(HEXA):c.1073C>T (p.Thr358Met) rs552505619 0.00007
NM_000520.6(HEXA):c.1164C>G (p.Ile388Met) rs760153692 0.00007
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) rs147502219 0.00007
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp) rs762494949 0.00006
NM_000520.6(HEXA):c.286G>A (p.Val96Ile) rs868358306 0.00006
NM_000520.6(HEXA):c.764C>G (p.Ala255Gly) rs370576428 0.00006
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000520.6(HEXA):c.1146+9G>C rs371023342 0.00005
NM_000520.6(HEXA):c.1421+4A>G rs953579005 0.00005
NM_000520.6(HEXA):c.460-1G>T rs764343937 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu) rs371133961 0.00005
NM_000520.6(HEXA):c.888T>C (p.Asn296=) rs752260651 0.00005
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val) rs771447407 0.00004
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167 0.00004
NM_000520.6(HEXA):c.1421+17G>A rs752975043 0.00004
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) rs121907956 0.00004
NM_000520.6(HEXA):c.253+20C>T rs772715699 0.00004
NM_000520.6(HEXA):c.347-15T>A rs750626935 0.00004
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) rs121907962 0.00004
NM_000520.6(HEXA):c.706G>A (p.Ala236Thr) rs757119445 0.00004
NM_000520.6(HEXA):c.981C>T (p.Thr327=) rs1271376611 0.00004
NM_000520.6(HEXA):c.986+3A>G rs200926928 0.00004
NM_000520.6(HEXA):c.1073+18G>A rs756371964 0.00003
NM_000520.6(HEXA):c.1073+4A>G rs780502991 0.00003
NM_000520.6(HEXA):c.1074-20G>T rs776333373 0.00003
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) rs121907958 0.00003
NM_000520.6(HEXA):c.1266G>T (p.Leu422=) rs373023700 0.00003
NM_000520.6(HEXA):c.1421+12C>T rs200757264 0.00003
NM_000520.6(HEXA):c.1422-10T>C rs747528877 0.00003
NM_000520.6(HEXA):c.640G>A (p.Glu214Lys) rs1227959449 0.00003
NM_000520.6(HEXA):c.840G>A (p.Gly280=) rs778823870 0.00003
NM_000520.6(HEXA):c.1014T>C (p.Phe338=) rs149121118 0.00002
NM_000520.6(HEXA):c.120C>T (p.Tyr40=) rs762382202 0.00002
NM_000520.6(HEXA):c.1230C>T (p.Ala410=) rs751185874 0.00002
NM_000520.6(HEXA):c.1256C>G (p.Pro419Arg) rs772431056 0.00002
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu) rs202173526 0.00002
NM_000520.6(HEXA):c.1421+1G>C rs147324677 0.00002
NM_000520.6(HEXA):c.1421G>T (p.Trp474Leu) rs762374961 0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_000520.6(HEXA):c.1557A>G (p.Val519=) rs1327031567 0.00002
NM_000520.6(HEXA):c.1572G>A (p.Gln524=) rs1389009140 0.00002
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp) rs573269641 0.00002
NM_000520.6(HEXA):c.297A>C (p.Val99=) rs766640260 0.00002
NM_000520.6(HEXA):c.347-12C>T rs761854464 0.00002
NM_000520.6(HEXA):c.459+18A>G rs751790486 0.00002
NM_000520.6(HEXA):c.497G>A (p.Arg166His) rs398123442 0.00002
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) rs121907953 0.00002
NM_000520.6(HEXA):c.571-1G>T rs185429231 0.00002
NM_000520.6(HEXA):c.616G>A (p.Val206Ile) rs543071358 0.00002
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr) rs756218457 0.00002
NM_000520.6(HEXA):c.805+7A>G rs758135123 0.00002
NM_000520.6(HEXA):c.906C>T (p.Ser302=) rs765612435 0.00002
NM_000520.6(HEXA):c.1032C>T (p.Phe344=) rs762704131 0.00001
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) rs775322979 0.00001
NM_000520.6(HEXA):c.1047G>A (p.Lys349=) rs746518979 0.00001
NM_000520.6(HEXA):c.1073+8A>T rs2088641552 0.00001
NM_000520.6(HEXA):c.1086C>T (p.Ile362=) rs749828204 0.00001
NM_000520.6(HEXA):c.1091C>T (p.Ser364Phe) rs781611898 0.00001
NM_000520.6(HEXA):c.1092T>C (p.Ser364=) rs757519934 0.00001
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg) rs764291005 0.00001
NM_000520.6(HEXA):c.1116G>A (p.Val372=) rs753609749 0.00001
NM_000520.6(HEXA):c.1146+16G>A rs1297838415 0.00001
NM_000520.6(HEXA):c.1168del (p.Gln390fs) rs772879726 0.00001
NM_000520.6(HEXA):c.1173G>A (p.Val391=) rs575836910 0.00001
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963 0.00001
NM_000520.6(HEXA):c.1254C>T (p.Ala418=) rs1248988558 0.00001
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val) rs774562271 0.00001
NM_000520.6(HEXA):c.1271G>A (p.Arg424His) rs535095877 0.00001
NM_000520.6(HEXA):c.1309G>A (p.Val437Met) rs2088616485 0.00001
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro) rs752223090 0.00001
NM_000520.6(HEXA):c.132T>G (p.Phe44Leu) rs1304040097 0.00001
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro) rs144089645 0.00001
NM_000520.6(HEXA):c.1359T>C (p.Ile453=) rs113941121 0.00001
NM_000520.6(HEXA):c.1375A>G (p.Met459Val) rs547192168 0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter) rs745996955 0.00001
NM_000520.6(HEXA):c.140A>G (p.Gln47Arg) rs1015834087 0.00001
NM_000520.6(HEXA):c.1421+13G>A rs375201437 0.00001
NM_000520.6(HEXA):c.1422-7C>T rs1204984002 0.00001
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys) rs121907981 0.00001
NM_000520.6(HEXA):c.1434G>C (p.Gly478=) rs1343812879 0.00001
NM_000520.6(HEXA):c.1438G>A (p.Val480Ile) rs370638338 0.00001
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) rs121907952 0.00001
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu) rs1185080097 0.00001
NM_000520.6(HEXA):c.1477C>T (p.Leu493=) rs774313739 0.00001
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966 0.00001
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071 0.00001
NM_000520.6(HEXA):c.1526+12G>A rs370449921 0.00001
NM_000520.6(HEXA):c.1527-10C>G rs775281927 0.00001
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585 0.00001
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln) rs745432499 0.00001
NM_000520.6(HEXA):c.1545A>G (p.Gln515=) rs369398952 0.00001
NM_000520.6(HEXA):c.1548C>T (p.Pro516=) rs1322003883 0.00001
NM_000520.6(HEXA):c.167C>T (p.Pro56Leu) rs955535343 0.00001
NM_000520.6(HEXA):c.168C>T (p.Pro56=) rs777515618 0.00001
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) rs759092928 0.00001
NM_000520.6(HEXA):c.197A>G (p.Gln66Arg) rs753442808 0.00001
NM_000520.6(HEXA):c.1A>G (p.Met1Val) rs121907965 0.00001
NM_000520.6(HEXA):c.204T>C (p.Tyr68=) rs2089056122 0.00001
NM_000520.6(HEXA):c.210C>T (p.Asp70=) rs1377654671 0.00001
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) rs769035623 0.00001
NM_000520.6(HEXA):c.237C>T (p.Pro79=) rs763428989 0.00001
NM_000520.6(HEXA):c.241C>A (p.Pro81Thr) rs144231599 0.00001
NM_000520.6(HEXA):c.253+1G>A rs770093080 0.00001
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln) rs766966378 0.00001
NM_000520.6(HEXA):c.275A>G (p.Lys92Arg) rs1208872523 0.00001
NM_000520.6(HEXA):c.291C>T (p.Val97=) rs776967919 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.303A>G (p.Thr101=) rs970894400 0.00001
NM_000520.6(HEXA):c.325A>T (p.Thr109Ser) rs1269110075 0.00001
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro) rs141120074 0.00001
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys) rs774220090 0.00001
NM_000520.6(HEXA):c.346+1G>C rs797044432 0.00001
NM_000520.6(HEXA):c.346+2dup rs1430416918 0.00001
NM_000520.6(HEXA):c.347A>T (p.Tyr116Phe) rs1282031681 0.00001
NM_000520.6(HEXA):c.357C>T (p.Thr119=) rs1242269336 0.00001
NM_000520.6(HEXA):c.373T>G (p.Cys125Gly) rs1365750130 0.00001
NM_000520.6(HEXA):c.388G>C (p.Glu130Gln) rs917904407 0.00001
NM_000520.6(HEXA):c.393T>G (p.Thr131=) rs763015329 0.00001
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln) rs769724246 0.00001
NM_000520.6(HEXA):c.412+13G>A rs1391540037 0.00001
NM_000520.6(HEXA):c.413-19C>T rs2088734265 0.00001
NM_000520.6(HEXA):c.413-4C>T rs373382175 0.00001
NM_000520.6(HEXA):c.460-8C>T rs1437923865 0.00001
NM_000520.6(HEXA):c.48C>T (p.Phe16=) rs772706192 0.00001
NM_000520.6(HEXA):c.503C>T (p.Pro168Leu) rs1459050143 0.00001
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972 0.00001
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957 0.00001
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270 0.00001
NM_000520.6(HEXA):c.55C>T (p.Arg19Trp) rs1166889033 0.00001
NM_000520.6(HEXA):c.570G>T (p.Leu190=) rs1188885214 0.00001
NM_000520.6(HEXA):c.571-16G>A rs771550714 0.00001
NM_000520.6(HEXA):c.571-19T>G rs576601675 0.00001
NM_000520.6(HEXA):c.574G>A (p.Val192Ile) rs387906310 0.00001
NM_000520.6(HEXA):c.587A>G (p.Asn196Ser) rs753862880 0.00001
NM_000520.6(HEXA):c.597C>T (p.Asn199=) rs756010672 0.00001
NM_000520.6(HEXA):c.598G>A (p.Val200Met) rs1800429 0.00001
NM_000520.6(HEXA):c.621T>C (p.Asp207=) rs763649208 0.00001
NM_000520.6(HEXA):c.636A>G (p.Pro212=) rs774842392 0.00001
NM_000520.6(HEXA):c.664A>C (p.Met222Leu) rs768751360 0.00001
NM_000520.6(HEXA):c.672+10C>T rs2088689193 0.00001
NM_000520.6(HEXA):c.672+11G>A rs1196402639 0.00001
NM_000520.6(HEXA):c.6A>G (p.Thr2=) rs1372094460 0.00001
NM_000520.6(HEXA):c.705A>G (p.Thr235=) rs781164103 0.00001
NM_000520.6(HEXA):c.735C>T (p.Tyr245=) rs777460475 0.00001
NM_000520.6(HEXA):c.740G>A (p.Arg247Gln) rs1360213217 0.00001
NM_000520.6(HEXA):c.741G>A (p.Arg247=) rs76873846 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_000520.6(HEXA):c.755G>A (p.Arg252His) rs762255098 0.00001
NM_000520.6(HEXA):c.772G>C (p.Asp258His) rs121907971 0.00001
NM_000520.6(HEXA):c.795C>T (p.Ser265=) rs746942625 0.00001
NM_000520.6(HEXA):c.7A>G (p.Ser3Gly) rs1277583383 0.00001
NM_000520.6(HEXA):c.805+1G>C rs121907980 0.00001
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter) rs751393950 0.00001
NM_000520.6(HEXA):c.867A>G (p.Pro289=) rs1420729942 0.00001
NM_000520.6(HEXA):c.876C>T (p.Pro292=) rs143009489 0.00001
NM_000520.6(HEXA):c.884A>G (p.Asn295Ser) rs199578185 0.00001
NM_000520.6(HEXA):c.901A>C (p.Met301Leu) rs758871181 0.00001
NM_000520.6(HEXA):c.917T>G (p.Leu306Ter) rs1567297439 0.00001
NM_000520.6(HEXA):c.957T>C (p.Leu319=) rs373799508 0.00001
NM_000520.6(HEXA):c.961G>A (p.Gly321Arg) rs556877212 0.00001
NM_000520.6(HEXA):c.972T>A (p.Val324=) rs28942072 0.00001
NM_000520.6(HEXA):c.987-14C>T rs766562662 0.00001
NM_000520.6(HEXA):c.987-15T>C rs754219266 0.00001
NM_000520.6(HEXA):c.987-18T>G rs374977824 0.00001
NM_000520.6(HEXA):c.987-8G>C rs760923149 0.00001
NC_000015.10:g.(?_72345446)_(72346710_?)del
NC_000015.10:g.(?_72350508)_(72351244_?)del
NC_000015.10:g.(?_72374460)_(72375992_?)del
NC_000015.9:g.(?_72103084)_(74244178_?)del
NC_000015.9:g.(?_72636408)_(72636491_?)del
NC_000015.9:g.(?_72636418)_(73660611_?)dup
NC_000015.9:g.(?_72637535)_(72639061_?)del
NC_000015.9:g.(?_72637767)_(72639071_?)del
NC_000015.9:g.(?_72638556)_(72639071_?)del
NC_000015.9:g.(?_72638867)_(72641658_?)del
NC_000015.9:g.(?_72640007)_(72641620_?)dup
NC_000015.9:g.(?_72640007)_(72643595_?)dup
NC_000015.9:g.(?_72646063)_(72653091_?)del
NC_000015.9:g.(?_72662933)_72670877del
NC_000015.9:g.(?_72666113)_(72666961_?)del
NM_000520.6(HEXA):c.-7_1del (p.Met1fs) rs759154405
NM_000520.6(HEXA):c.1009G>A (p.Asp337Asn)
NM_000520.6(HEXA):c.100G>A (p.Asp34Asn)
NM_000520.6(HEXA):c.1014del (p.Phe338fs)
NM_000520.6(HEXA):c.1019G>A (p.Arg340Lys)
NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg) rs1417593132
NM_000520.6(HEXA):c.1023G>A (p.Lys341=)
NM_000520.6(HEXA):c.1026A>G (p.Lys342=) rs1595798386
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val) rs191330716
NM_000520.6(HEXA):c.1031T>C (p.Phe344Ser)
NM_000520.6(HEXA):c.1039G>T (p.Asp347Tyr) rs745555933
NM_000520.6(HEXA):c.1042T>G (p.Phe348Val)
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs) rs1057516755
NM_000520.6(HEXA):c.104A>C (p.Gln35Pro)
NM_000520.6(HEXA):c.1053_1054delinsTCCAGCTTGA (p.Glu352delinsProAlaTer)
NM_000520.6(HEXA):c.1058C>T (p.Ser353Phe) rs2140322145
NM_000520.6(HEXA):c.1059C>T (p.Ser353=) rs1264309804
NM_000520.6(HEXA):c.1065C>T (p.Tyr355=) rs2140322139
NM_000520.6(HEXA):c.1069C>T (p.Gln357Ter)
NM_000520.6(HEXA):c.106C>T (p.Arg36Cys) rs2089059184
NM_000520.6(HEXA):c.1073+10G>A rs1458405375
NM_000520.6(HEXA):c.1073+10G>T
NM_000520.6(HEXA):c.1073+17G>A rs1277432109
NM_000520.6(HEXA):c.1073+1G>C rs76173977
NM_000520.6(HEXA):c.1074-12TCTCC[3] rs759219683
NM_000520.6(HEXA):c.1074-16C>A
NM_000520.6(HEXA):c.1074-16C>T
NM_000520.6(HEXA):c.1074-17A>G
NM_000520.6(HEXA):c.1074-19A>G
NM_000520.6(HEXA):c.1074-20G>A
NM_000520.6(HEXA):c.1074-7T>C rs2140321912
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.1074-8C>T rs2140321914
NM_000520.6(HEXA):c.1074G>C (p.Thr358=) rs1330754060
NM_000520.6(HEXA):c.107G>C (p.Arg36Pro)
NM_000520.6(HEXA):c.107dup (p.Tyr37fs)
NM_000520.6(HEXA):c.1080G>A (p.Leu360=) rs1344084494
NM_000520.6(HEXA):c.1086C>A (p.Ile362=) rs749828204
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile) rs557550173
NM_000520.6(HEXA):c.1087G>T (p.Val363Phe)
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr) rs2088636561
NM_000520.6(HEXA):c.1088T>A (p.Val363Asp)
NM_000520.6(HEXA):c.1088dup (p.Ser364fs)
NM_000520.6(HEXA):c.1091C>G (p.Ser364Cys)
NM_000520.6(HEXA):c.1091CTT[1] (p.Ser365del)
NM_000520.6(HEXA):c.1092_1093del (p.Ser365fs)
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.1098T>C (p.Tyr366=) rs979690054
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter) rs979690054
NM_000520.6(HEXA):c.1099G>A (p.Gly367Ser) rs2140321869
NM_000520.6(HEXA):c.10_12dup (p.Ser4_Arg5insSer)
NM_000520.6(HEXA):c.1101C>G (p.Gly367=)
NM_000520.6(HEXA):c.1108T>A (p.Tyr370Asn)
NM_000520.6(HEXA):c.1109A>G (p.Tyr370Cys)
NM_000520.6(HEXA):c.110A>G (p.Tyr37Cys) rs2140344677
NM_000520.6(HEXA):c.1110T>C (p.Tyr370=) rs2140321848
NM_000520.6(HEXA):c.1114G>A (p.Val372Met) rs759434633
NM_000520.6(HEXA):c.1114G>T (p.Val372Leu)
NM_000520.6(HEXA):c.1114del (p.Val372fs) rs2140321846
NM_000520.6(HEXA):c.1122G>A (p.Gln374=)
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.1135A>G (p.Asn379Asp)
NM_000520.6(HEXA):c.1136A>G (p.Asn379Ser)
NM_000520.6(HEXA):c.1137T>C (p.Asn379=) rs2140321800
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer) rs1555472553
NM_000520.6(HEXA):c.1142T>A (p.Val381Glu)
NM_000520.6(HEXA):c.1142_1146del (p.Val381fs) rs1595798033
NM_000520.6(HEXA):c.1143A>G (p.Val381=) rs781712951
NM_000520.6(HEXA):c.1145A>C (p.Lys382Thr) rs960869164
NM_000520.6(HEXA):c.1146+11G>A
NM_000520.6(HEXA):c.1146+17A>G rs2140321766
NM_000520.6(HEXA):c.1146+18A>G rs1555472543
NM_000520.6(HEXA):c.1146+7C>G
NM_000520.6(HEXA):c.1146+7C>T rs1445671872
NM_000520.6(HEXA):c.1146+8G>T
NM_000520.6(HEXA):c.1147-13C>T
NM_000520.6(HEXA):c.1147-14A>G
NM_000520.6(HEXA):c.1147-3C>T
NM_000520.6(HEXA):c.1147-6T>C
NM_000520.6(HEXA):c.1147-7A>G rs1476782915
NM_000520.6(HEXA):c.1147-8T>G
NM_000520.6(HEXA):c.1147-9_1147-6del rs2140320865
NM_000520.6(HEXA):c.1152G>C (p.Gln384His)
NM_000520.6(HEXA):c.1154C>T (p.Pro385Leu)
NM_000520.6(HEXA):c.1160C>T (p.Thr387Ile)
NM_000520.6(HEXA):c.1160_1161del (p.Thr387fs)
NM_000520.6(HEXA):c.1161A>T (p.Thr387=) rs1244956386
NM_000520.6(HEXA):c.1164C>T (p.Ile388=)
NM_000520.6(HEXA):c.1165A>G (p.Ile389Val)
NM_000520.6(HEXA):c.1166T>C (p.Ile389Thr)
NM_000520.6(HEXA):c.1168C>G (p.Gln390Glu) rs988192535
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.1171G>A (p.Val391Met) rs2140320821
NM_000520.6(HEXA):c.1173G>T (p.Val391=) rs575836910
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter) rs267606862
NM_000520.6(HEXA):c.117T>G (p.Leu39=)
NM_000520.6(HEXA):c.1182G>A (p.Glu394=)
NM_000520.6(HEXA):c.1183del (p.Asp395fs) rs770303210
NM_000520.6(HEXA):c.1188T>A (p.Ile396=)
NM_000520.6(HEXA):c.1189C>A (p.Pro397Thr)
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser) rs778878211
NM_000520.6(HEXA):c.118del (p.Tyr40fs) rs2140344667
NM_000520.6(HEXA):c.1191A>G (p.Pro397=) rs2140320794
NM_000520.6(HEXA):c.1194G>C (p.Val398=) rs2140320785
NM_000520.6(HEXA):c.1194G>T (p.Val398=) rs2140320785
NM_000520.6(HEXA):c.1196A>G (p.Asn399Ser)
NM_000520.6(HEXA):c.1196A>T (p.Asn399Ile) rs755973971
NM_000520.6(HEXA):c.1198T>C (p.Tyr400His)
NM_000520.6(HEXA):c.1204_1206del (p.Lys402del) rs1467732394
NM_000520.6(HEXA):c.1209G>T (p.Glu403Asp)
NM_000520.6(HEXA):c.1217_1220delinsA (p.Leu406_Val407delinsHis) rs1177678117
NM_000520.6(HEXA):c.121C>T (p.Pro41Ser)
NM_000520.6(HEXA):c.1220del (p.Val407fs) rs2140320741
NM_000520.6(HEXA):c.1226A>G (p.Lys409Arg)
NM_000520.6(HEXA):c.1230C>A (p.Ala410=)
NM_000520.6(HEXA):c.1233C>G (p.Gly411=) rs2140320715
NM_000520.6(HEXA):c.1238G>A (p.Arg413Gln)
NM_000520.6(HEXA):c.1238G>C (p.Arg413Pro) rs766988109
NM_000520.6(HEXA):c.1239G>A (p.Arg413=) rs2140320704
NM_000520.6(HEXA):c.1239G>T (p.Arg413=) rs2140320704
NM_000520.6(HEXA):c.123G>T (p.Pro41=) rs769075910
NM_000520.6(HEXA):c.1242C>T (p.Ala414=)
NM_000520.6(HEXA):c.1245T>C (p.Leu415=)
NM_000520.6(HEXA):c.1250C>G (p.Ser417Cys)
NM_000520.6(HEXA):c.1250_1251del (p.Ser417fs)
NM_000520.6(HEXA):c.1251T>G (p.Ser417=)
NM_000520.6(HEXA):c.1252G>T (p.Ala418Ser)
NM_000520.6(HEXA):c.1253C>A (p.Ala418Asp)
NM_000520.6(HEXA):c.1253C>G (p.Ala418Gly)
NM_000520.6(HEXA):c.1257C>T (p.Pro419=) rs1595797185
NM_000520.6(HEXA):c.1257dup (p.Trp420fs)
NM_000520.6(HEXA):c.1258del (p.Trp420fs) rs1216659000
NM_000520.6(HEXA):c.1263C>T (p.Tyr421=) rs2140320674
NM_000520.6(HEXA):c.1270C>T (p.Arg424Cys)
NM_000520.6(HEXA):c.1272T>C (p.Arg424=) rs1020151571
NM_000520.6(HEXA):c.1273A>G (p.Ile425Val) rs2088617363
NM_000520.6(HEXA):c.1276T>G (p.Ser426Ala)
NM_000520.6(HEXA):c.1277C>T (p.Ser426Phe) rs2140320645
NM_000520.6(HEXA):c.1278C>T (p.Ser426=)
NM_000520.6(HEXA):c.127A>G (p.Asn43Asp) rs1567308297
NM_000520.6(HEXA):c.1283G>A (p.Gly428Asp) rs2140320638
NM_000520.6(HEXA):c.1285C>T (p.Pro429Ser) rs2140320635
NM_000520.6(HEXA):c.1287T>C (p.Pro429=) rs1159406854
NM_000520.6(HEXA):c.1288G>A (p.Asp430Asn)
NM_000520.6(HEXA):c.1293G>A (p.Trp431Ter)
NM_000520.6(HEXA):c.1296G>A (p.Lys432=)
NM_000520.6(HEXA):c.12C>T (p.Ser4=) rs774967373
NM_000520.6(HEXA):c.1305_1306inv (p.Ile436Val)
NM_000520.6(HEXA):c.1306A>T (p.Ile436Leu) rs1800431
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) rs777042785
NM_000520.6(HEXA):c.1311G>A (p.Val437=) rs2140320599
NM_000520.6(HEXA):c.1315C>A (p.Pro439Thr) rs2140320594
NM_000520.6(HEXA):c.1317C>G (p.Pro439=) rs1003506073
NM_000520.6(HEXA):c.1317C>T (p.Pro439=) rs1003506073
NM_000520.6(HEXA):c.1321G>A (p.Ala441Thr) rs2140320582
NM_000520.6(HEXA):c.1322C>G (p.Ala441Gly) rs2140320579
NM_000520.6(HEXA):c.1330+12G>C
NM_000520.6(HEXA):c.1330+15C>T
NM_000520.6(HEXA):c.1330+19C>T
NM_000520.6(HEXA):c.1330+1G>A rs767041069
NM_000520.6(HEXA):c.1330+2T>C rs2140320568
NM_000520.6(HEXA):c.1330+4A>T
NM_000520.6(HEXA):c.1331-13T>C
NM_000520.6(HEXA):c.1331-16G>T
NM_000520.6(HEXA):c.1331-18T>C
NM_000520.6(HEXA):c.1331-19G>C
NM_000520.6(HEXA):c.1331-19G>T
NM_000520.6(HEXA):c.1331-4T>C
NM_000520.6(HEXA):c.1331-5C>G
NM_000520.6(HEXA):c.1331-5C>T
NM_000520.6(HEXA):c.1331-7C>G
NM_000520.6(HEXA):c.1331-7C>T
NM_000520.6(HEXA):c.1331G>A (p.Gly444Asp)
NM_000520.6(HEXA):c.1335C>A (p.Thr445=)
NM_000520.6(HEXA):c.1335C>T (p.Thr445=) rs1365983427
NM_000520.6(HEXA):c.1336C>T (p.Pro446Ser)
NM_000520.6(HEXA):c.1337C>T (p.Pro446Leu)
NM_000520.6(HEXA):c.1338T>A (p.Pro446=) rs34085965
NM_000520.6(HEXA):c.1338del (p.Glu447fs)
NM_000520.6(HEXA):c.1339G>A (p.Glu447Lys)
NM_000520.6(HEXA):c.1344G>A (p.Gln448=) rs2140320361
NM_000520.6(HEXA):c.1346A>G (p.Lys449Arg)
NM_000520.6(HEXA):c.1347G>A (p.Lys449=)
NM_000520.6(HEXA):c.1356G>A (p.Val452=)
NM_000520.6(HEXA):c.135A>G (p.Gln45=)
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser) rs121907978
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) rs1229811721
NM_000520.6(HEXA):c.1362T>C (p.Gly454=)
NM_000520.6(HEXA):c.1363G>A (p.Gly455Arg)
NM_000520.6(HEXA):c.1364del (p.Gly455fs)
NM_000520.6(HEXA):c.1367A>C (p.Glu456Ala) rs1567295650
NM_000520.6(HEXA):c.1367A>G (p.Glu456Gly)
NM_000520.6(HEXA):c.1368G>A (p.Glu456=) rs2140320322
NM_000520.6(HEXA):c.1368G>C (p.Glu456Asp) rs2140320322
NM_000520.6(HEXA):c.136T>C (p.Phe46Leu) rs1287127671
NM_000520.6(HEXA):c.1371T>A (p.Ala457=) rs2140320317
NM_000520.6(HEXA):c.1371T>G (p.Ala457=)
NM_000520.6(HEXA):c.1374T>C (p.Cys458=) rs764396757
NM_000520.6(HEXA):c.1377G>A (p.Met459Ile)
NM_000520.6(HEXA):c.1382G>T (p.Gly461Val)
NM_000520.6(HEXA):c.1389T>A (p.Tyr463Ter)
NM_000520.6(HEXA):c.1389T>C (p.Tyr463=) rs1239101618
NM_000520.6(HEXA):c.1399A>G (p.Thr467Ala)
NM_000520.6(HEXA):c.13A>C (p.Arg5=) rs1595816387
NM_000520.6(HEXA):c.13A>G (p.Arg5Gly)
NM_000520.6(HEXA):c.1400C>T (p.Thr467Ile) rs746828145
NM_000520.6(HEXA):c.1405C>T (p.Leu469=) rs777731446
NM_000520.6(HEXA):c.1407G>C (p.Leu469=)
NM_000520.6(HEXA):c.1407G>T (p.Leu469=) rs2140320253
NM_000520.6(HEXA):c.1410C>G (p.Val470=) rs771951380
NM_000520.6(HEXA):c.1416G>A (p.Arg472=) rs369117208
NM_000520.6(HEXA):c.1419_1420del (p.Trp474fs) rs987921756
NM_000520.6(HEXA):c.141G>C (p.Gln47His)
NM_000520.6(HEXA):c.1421+12C>G
NM_000520.6(HEXA):c.1421+13G>C rs375201437
NM_000520.6(HEXA):c.1421+13dup rs780193130
NM_000520.6(HEXA):c.1421+14G>A rs201497629
NM_000520.6(HEXA):c.1421+14G>T rs201497629
NM_000520.6(HEXA):c.1421+15G>A rs185764548
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000520.6(HEXA):c.1421+15G>T rs185764548
NM_000520.6(HEXA):c.1421+16G>C
NM_000520.6(HEXA):c.1421+19G>A
NM_000520.6(HEXA):c.1421+19G>C
NM_000520.6(HEXA):c.1421+19G>T
NM_000520.6(HEXA):c.1421+19del
NM_000520.6(HEXA):c.1421+1G>T rs147324677
NM_000520.6(HEXA):c.1421+3A>T
NM_000520.6(HEXA):c.1421+6G>C
NM_000520.6(HEXA):c.1421+7G>T
NM_000520.6(HEXA):c.1421+7del rs747378954
NM_000520.6(HEXA):c.1421+9T>C rs2140320220
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) rs762374961
NM_000520.6(HEXA):c.1422-13C>T rs1366173591
NM_000520.6(HEXA):c.1422-14C>T
NM_000520.6(HEXA):c.1422-18A>G
NM_000520.6(HEXA):c.1422-1G>T rs1555472296
NM_000520.6(HEXA):c.1422-2A>G
NM_000520.6(HEXA):c.1422-6C>T
NM_000520.6(HEXA):c.1422-8T>C rs2140319698
NM_000520.6(HEXA):c.1422-9T>A rs2140319704
NM_000520.6(HEXA):c.1424C>G (p.Pro475Arg) rs758829206
NM_000520.6(HEXA):c.1425C>T (p.Pro475=) rs2140319679
NM_000520.6(HEXA):c.1431A>G (p.Ala477=) rs2140319674
NM_000520.6(HEXA):c.1435G>C (p.Ala479Pro)
NM_000520.6(HEXA):c.1435del (p.Ala479fs) rs2088601317
NM_000520.6(HEXA):c.1437T>C (p.Ala479=) rs2140319660
NM_000520.6(HEXA):c.1439T>C (p.Val480Ala)
NM_000520.6(HEXA):c.144C>G (p.Tyr48Ter) rs2140344619
NM_000520.6(HEXA):c.144C>T (p.Tyr48=) rs2140344619
NM_000520.6(HEXA):c.1452G>A (p.Leu484=)
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) rs121907968
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) rs1057519468
NM_000520.6(HEXA):c.1455G>A (p.Trp485Ter) rs2140319619
NM_000520.6(HEXA):c.1457G>A (p.Ser486Asn) rs1408716264
NM_000520.6(HEXA):c.1467G>C (p.Leu489Phe)
NM_000520.6(HEXA):c.1469C>T (p.Thr490Ile)
NM_000520.6(HEXA):c.1470A>G (p.Thr490=)
NM_000520.6(HEXA):c.1473T>G (p.Ser491=)
NM_000520.6(HEXA):c.1474G>C (p.Asp492His)
NM_000520.6(HEXA):c.147T>C (p.Asp49=)
NM_000520.6(HEXA):c.1481C>G (p.Thr494Arg) rs2088600017
NM_000520.6(HEXA):c.1487C>G (p.Ala496Gly)
NM_000520.6(HEXA):c.1488C>G (p.Ala496=)
NM_000520.6(HEXA):c.148G>A (p.Val50Ile)
NM_000520.6(HEXA):c.1491T>G (p.Tyr497Ter)
NM_000520.6(HEXA):c.1499del (p.Leu500fs) rs1567295184
NM_000520.6(HEXA):c.1509C>G (p.Phe503Leu)
NM_000520.6(HEXA):c.1510del (p.Arg504fs) rs797044433
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu) rs121907955
NM_000520.6(HEXA):c.1521G>A (p.Leu507=)
NM_000520.6(HEXA):c.1524G>A (p.Leu508=) rs2140319542
NM_000520.6(HEXA):c.1525_1526+27del rs2140319516
NM_000520.6(HEXA):c.1526+13T>C rs1406864261
NM_000520.6(HEXA):c.1526+14G>A
NM_000520.6(HEXA):c.1526+1G>A
NM_000520.6(HEXA):c.1526+1G>T rs1309204908
NM_000520.6(HEXA):c.1526+20T>G
NM_000520.6(HEXA):c.1526+7_1526+10del rs1165016914
NM_000520.6(HEXA):c.1527-10C>T
NM_000520.6(HEXA):c.1527-18C>T
NM_000520.6(HEXA):c.1527-4G>A
NM_000520.6(HEXA):c.1527-4G>C
NM_000520.6(HEXA):c.1527-7C>T rs2088581612
NM_000520.6(HEXA):c.152G>C (p.Ser51Thr) rs2089058076
NM_000520.6(HEXA):c.1532G>T (p.Gly511Val)
NM_000520.6(HEXA):c.1533T>C (p.Gly511=) rs761249905
NM_000520.6(HEXA):c.1533T>G (p.Gly511=)
NM_000520.6(HEXA):c.1536C>G (p.Val512=)
NM_000520.6(HEXA):c.1537C>T (p.Gln513Ter)
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) rs1555472161
NM_000520.6(HEXA):c.1554T>C (p.Asn518=) rs749609063
NM_000520.6(HEXA):c.1556T>C (p.Val519Ala)
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter) rs987036804
NM_000520.6(HEXA):c.1563C>T (p.Phe521=)
NM_000520.6(HEXA):c.156G>C (p.Ser52=)
NM_000520.6(HEXA):c.1571A>C (p.Gln524Pro) rs1432462387
NM_000520.6(HEXA):c.1574A>G (p.Glu525Gly)
NM_000520.6(HEXA):c.1578T>C (p.Phe526=) rs2140318501
NM_000520.6(HEXA):c.157G>A (p.Ala53Thr)
NM_000520.6(HEXA):c.157G>T (p.Ala53Ser) rs2140344593
NM_000520.6(HEXA):c.1587C>T (p.Thr529=)
NM_000520.6(HEXA):c.159C>T (p.Ala53=) rs2140344589
NM_000520.6(HEXA):c.162G>T (p.Ala54=)
NM_000520.6(HEXA):c.165G>A (p.Gln55=)
NM_000520.6(HEXA):c.167C>G (p.Pro56Arg)
NM_000520.6(HEXA):c.169G>C (p.Gly57Arg) rs2089057551
NM_000520.6(HEXA):c.16C>A (p.Leu6Ile) rs1167125379
NM_000520.6(HEXA):c.176C>T (p.Ser59Leu)
NM_000520.6(HEXA):c.178G>T (p.Val60Phe)
NM_000520.6(HEXA):c.179T>C (p.Val60Ala)
NM_000520.6(HEXA):c.17T>G (p.Leu6Arg)
NM_000520.6(HEXA):c.181C>T (p.Leu61Phe) rs1595816175
NM_000520.6(HEXA):c.183C>G (p.Leu61=) rs2089056934
NM_000520.6(HEXA):c.183C>T (p.Leu61=) rs2089056934
NM_000520.6(HEXA):c.186C>T (p.Asp62=) rs765001944
NM_000520.6(HEXA):c.189G>A (p.Glu63=) rs1401078087
NM_000520.6(HEXA):c.190G>A (p.Ala64Thr)
NM_000520.6(HEXA):c.195C>T (p.Phe65=)
NM_000520.6(HEXA):c.196del (p.Gln66fs)
NM_000520.6(HEXA):c.19del (p.Trp7fs)
NM_000520.6(HEXA):c.1A>C (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.1A>T (p.Met1Leu) rs121907965
NM_000520.6(HEXA):c.200G>A (p.Arg67His)
NM_000520.6(HEXA):c.200G>T (p.Arg67Leu) rs1213459678
NM_000520.6(HEXA):c.203A>G (p.Tyr68Cys)
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter) rs751546658
NM_000520.6(HEXA):c.211C>T (p.Leu71=)
NM_000520.6(HEXA):c.213G>C (p.Leu71=) rs2140344454
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn) rs1555475468
NM_000520.6(HEXA):c.219C>T (p.Phe73=) rs2089055709
NM_000520.6(HEXA):c.222T>G (p.Gly74=)
NM_000520.6(HEXA):c.225C>G (p.Ser75=)
NM_000520.6(HEXA):c.226_242del (p.Gly76fs) rs2140344404
NM_000520.6(HEXA):c.227G>C (p.Gly76Ala) rs2089055615
NM_000520.6(HEXA):c.228G>C (p.Gly76=)
NM_000520.6(HEXA):c.228G>T (p.Gly76=)
NM_000520.6(HEXA):c.228del (p.Ser77fs)
NM_000520.6(HEXA):c.229T>G (p.Ser77Ala)
NM_000520.6(HEXA):c.230C>T (p.Ser77Phe) rs2089055459
NM_000520.6(HEXA):c.236C>G (p.Pro79Arg)
NM_000520.6(HEXA):c.237_253+7del rs770628999
NM_000520.6(HEXA):c.238C>A (p.Arg80Ser) rs1240272655
NM_000520.6(HEXA):c.248T>C (p.Leu83Pro) rs1477850542
NM_000520.6(HEXA):c.249C>T (p.Leu83=) rs1416793758
NM_000520.6(HEXA):c.253+1100_253+1948del
NM_000520.6(HEXA):c.253+14G>A
NM_000520.6(HEXA):c.253+18C>T
NM_000520.6(HEXA):c.253+19G>A
NM_000520.6(HEXA):c.253+19G>C rs370680843
NM_000520.6(HEXA):c.253+20C>A
NM_000520.6(HEXA):c.253+4A>C rs746118260
NM_000520.6(HEXA):c.253+5G>A
NM_000520.6(HEXA):c.253+5G>T
NM_000520.6(HEXA):c.253+7C>G
NM_000520.6(HEXA):c.253+7C>T rs996974364
NM_000520.6(HEXA):c.253+8G>C
NM_000520.6(HEXA):c.253+9G>C rs2089054710
NM_000520.6(HEXA):c.254-10G>A
NM_000520.6(HEXA):c.254-10G>T
NM_000520.6(HEXA):c.254-12C>G
NM_000520.6(HEXA):c.254-15A>T
NM_000520.6(HEXA):c.254-17T>C rs2140329132
NM_000520.6(HEXA):c.254-1G>C
NM_000520.6(HEXA):c.254-20A>G
NM_000520.6(HEXA):c.254-2A>G rs2088785868
NM_000520.6(HEXA):c.254G>A (p.Gly85Glu)
NM_000520.6(HEXA):c.259C>A (p.Arg87=) rs573269641
NM_000520.6(HEXA):c.25dup (p.Ser9fs)
NM_000520.6(HEXA):c.260G>T (p.Arg87Leu)
NM_000520.6(HEXA):c.261G>A (p.Arg87=) rs1298623340
NM_000520.6(HEXA):c.267A>G (p.Thr89=)
NM_000520.6(HEXA):c.268C>T (p.Leu90=) rs2140329094
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter) rs769370282
NM_000520.6(HEXA):c.270G>C (p.Leu90=)
NM_000520.6(HEXA):c.273G>A (p.Glu91=) rs2140329075
NM_000520.6(HEXA):c.276dup (p.Asn93fs) rs2088785055
NM_000520.6(HEXA):c.277A>G (p.Asn93Asp) rs2140329070
NM_000520.6(HEXA):c.27G>T (p.Ser9=)
NM_000520.6(HEXA):c.282G>A (p.Val94=)
NM_000520.6(HEXA):c.285G>C (p.Leu95Phe)
NM_000520.6(HEXA):c.289_290del (p.Val97fs) rs2140329051
NM_000520.6(HEXA):c.293C>G (p.Ser98Cys)
NM_000520.6(HEXA):c.294T>C (p.Ser98=)
NM_000520.6(HEXA):c.298G>T (p.Val100Phe) rs794727250
NM_000520.6(HEXA):c.300C>G (p.Val100=) rs2140329021
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser) rs1217876329
NM_000520.6(HEXA):c.306T>C (p.Pro102=)
NM_000520.6(HEXA):c.307G>A (p.Gly103Arg)
NM_000520.6(HEXA):c.308G>A (p.Gly103Glu)
NM_000520.6(HEXA):c.309A>T (p.Gly103=) rs1595804037
NM_000520.6(HEXA):c.310_313dup (p.Asn105delinsMetTer) rs2088783222
NM_000520.6(HEXA):c.312T>C (p.Cys104=) rs760781092
NM_000520.6(HEXA):c.31C>T (p.Leu11=)
NM_000520.6(HEXA):c.32del (p.Leu11fs) rs2140344855
NM_000520.6(HEXA):c.331G>A (p.Glu111Lys) rs2140328962
NM_000520.6(HEXA):c.332A>G (p.Glu111Gly) rs2140328958
NM_000520.6(HEXA):c.336A>G (p.Ser112=)
NM_000520.6(HEXA):c.336A>T (p.Ser112=)
NM_000520.6(HEXA):c.33G>A (p.Leu11=) rs2140344852
NM_000520.6(HEXA):c.346+10A>G rs2140328935
NM_000520.6(HEXA):c.346+18C>T
NM_000520.6(HEXA):c.346+1G>A rs797044432
NM_000520.6(HEXA):c.346+1G>T rs797044432
NM_000520.6(HEXA):c.346+5G>A rs1414011185
NM_000520.6(HEXA):c.346+8C>T
NM_000520.6(HEXA):c.347-12_347-11del rs2088766986
NM_000520.6(HEXA):c.347-17C>A
NM_000520.6(HEXA):c.347-17C>T rs761054655
NM_000520.6(HEXA):c.347-20G>A rs1055316951
NM_000520.6(HEXA):c.347-7A>G rs1567300313
NM_000520.6(HEXA):c.34C>G (p.Leu12Val)
NM_000520.6(HEXA):c.350C>A (p.Thr117Asn)
NM_000520.6(HEXA):c.351C>G (p.Thr117=)
NM_000520.6(HEXA):c.358A>G (p.Ile120Val) rs1567300305
NM_000520.6(HEXA):c.364G>C (p.Asp122His)
NM_000520.6(HEXA):c.366T>C (p.Asp122=) rs1302430521
NM_000520.6(HEXA):c.367G>A (p.Asp123Asn)
NM_000520.6(HEXA):c.367G>T (p.Asp123Tyr) rs768750119
NM_000520.6(HEXA):c.36G>A (p.Leu12=)
NM_000520.6(HEXA):c.379C>T (p.Leu127Phe)
NM_000520.6(HEXA):c.37G>A (p.Ala13Thr)
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) rs121907975
NM_000520.6(HEXA):c.381C>A (p.Leu127=) rs1595803351
NM_000520.6(HEXA):c.381C>T (p.Leu127=) rs1595803351
NM_000520.6(HEXA):c.386C>G (p.Ser129Cys)
NM_000520.6(HEXA):c.390G>A (p.Glu130=) rs2140328190
NM_000520.6(HEXA):c.395T>G (p.Val132Gly)
NM_000520.6(HEXA):c.395_398del (p.Val132fs) rs2140328176
NM_000520.6(HEXA):c.397del (p.Trp133fs) rs2088765656
NM_000520.6(HEXA):c.3G>A (p.Met1Ile) rs1595816410
NM_000520.6(HEXA):c.3G>T (p.Met1Ile)
NM_000520.6(HEXA):c.405T>C (p.Ala135=) rs2140328173
NM_000520.6(HEXA):c.408C>T (p.Leu136=) rs2088765442
NM_000520.6(HEXA):c.412+10T>C rs2140328149
NM_000520.6(HEXA):c.412+14G>T
NM_000520.6(HEXA):c.412+16T>A
NM_000520.6(HEXA):c.412+17G>C
NM_000520.6(HEXA):c.412+18A>T
NM_000520.6(HEXA):c.412+1G>T rs2140328162
NM_000520.6(HEXA):c.412+5C>A rs2088765141
NM_000520.6(HEXA):c.412+7A>G rs2088764993
NM_000520.6(HEXA):c.412+9T>C
NM_000520.6(HEXA):c.413-10A>G rs1361722304
NM_000520.6(HEXA):c.413-12A>G
NM_000520.6(HEXA):c.413-14C>G rs2140326832
NM_000520.6(HEXA):c.413-16C>T
NM_000520.6(HEXA):c.413-1G>A
NM_000520.6(HEXA):c.413-2A>G rs2088733862
NM_000520.6(HEXA):c.413-4C>G rs373382175
NM_000520.6(HEXA):c.414T>C (p.Gly138=) rs1361295729
NM_000520.6(HEXA):c.417G>A (p.Leu139=) rs1567299634
NM_000520.6(HEXA):c.417_418delinsTC (p.Glu140Gln)
NM_000520.6(HEXA):c.422del (p.Thr141fs) rs2088733629
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) rs1057519458
NM_000520.6(HEXA):c.42A>G (p.Ala14=) rs2089060994
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter) rs1595802191
NM_000520.6(HEXA):c.438T>G (p.Val146=) rs2140326788
NM_000520.6(HEXA):c.441G>A (p.Trp147Ter)
NM_000520.6(HEXA):c.442A>G (p.Lys148Glu) rs2140326779
NM_000520.6(HEXA):c.44C>T (p.Ala15Val)
NM_000520.6(HEXA):c.450T>C (p.Ala150=) rs1195208193
NM_000520.6(HEXA):c.459+13_459+14del
NM_000520.6(HEXA):c.459+19A>C
NM_000520.6(HEXA):c.459+1G>A rs2140326761
NM_000520.6(HEXA):c.459+24G>C
NM_000520.6(HEXA):c.459+2dup rs1555473138
NM_000520.6(HEXA):c.459+9G>T
NM_000520.6(HEXA):c.460-10T>C
NM_000520.6(HEXA):c.460-11G>A
NM_000520.6(HEXA):c.460-15G>A rs2140326434
NM_000520.6(HEXA):c.460-17A>G
NM_000520.6(HEXA):c.460-17A>T
NM_000520.6(HEXA):c.460-18A>G
NM_000520.6(HEXA):c.460-19C>T rs1680245631
NM_000520.6(HEXA):c.460-2A>G
NM_000520.6(HEXA):c.462C>A (p.Phe154Leu) rs1272644968
NM_000520.6(HEXA):c.465del (p.Phe155fs) rs1057516850
NM_000520.6(HEXA):c.469A>G (p.Asn157Asp)
NM_000520.6(HEXA):c.472A>G (p.Lys158Glu)
NM_000520.6(HEXA):c.477_478del (p.Glu160fs)
NM_000520.6(HEXA):c.478G>A (p.Glu160Lys) rs2088724627
NM_000520.6(HEXA):c.492T>C (p.Phe164=) rs2088724431
NM_000520.6(HEXA):c.492del (p.Arg166fs) rs2140326388
NM_000520.6(HEXA):c.495C>T (p.Pro165=)
NM_000520.6(HEXA):c.496C>T (p.Arg166Cys)
NM_000520.6(HEXA):c.498C>T (p.Arg166=)
NM_000520.6(HEXA):c.49_50delinsTT (p.Ala17Leu)
NM_000520.6(HEXA):c.4A>G (p.Thr2Ala)
NM_000520.6(HEXA):c.501T>C (p.Phe167=)
NM_000520.6(HEXA):c.505C>G (p.His169Asp)
NM_000520.6(HEXA):c.50C>T (p.Ala17Val)
NM_000520.6(HEXA):c.510G>A (p.Arg170=) rs760406474
NM_000520.6(HEXA):c.512G>A (p.Gly171Asp) rs2088723709
NM_000520.6(HEXA):c.516G>A (p.Leu172=) rs1567299356
NM_000520.6(HEXA):c.519G>A (p.Leu173=)
NM_000520.6(HEXA):c.519G>C (p.Leu173=) rs771696420
NM_000520.6(HEXA):c.51A>C (p.Ala17=) rs2140344816
NM_000520.6(HEXA):c.51_52insAGTTTTCGCTGCTGCTGGCGGCAGCGTTCGCA (p.Gly18fs) rs2140344825
NM_000520.6(HEXA):c.521dup (p.Leu174fs)
NM_000520.6(HEXA):c.524A>G (p.Asp175Gly)
NM_000520.6(HEXA):c.528A>C (p.Thr176=) rs1458388844
NM_000520.6(HEXA):c.528A>G (p.Thr176=)
NM_000520.6(HEXA):c.538T>C (p.Tyr180His) rs28941771
NM_000520.6(HEXA):c.540C>T (p.Tyr180=)
NM_000520.6(HEXA):c.541C>T (p.Leu181=)
NM_000520.6(HEXA):c.542T>C (p.Leu181Pro) rs2088722634
NM_000520.6(HEXA):c.545C>G (p.Pro182Arg)
NM_000520.6(HEXA):c.546dup (p.Leu183fs) rs1595801740
NM_000520.6(HEXA):c.54A>G (p.Gly18=)
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer) rs1555473070
NM_000520.6(HEXA):c.552T>C (p.Ser184=) rs1387980987
NM_000520.6(HEXA):c.555C>T (p.Ser185=)
NM_000520.6(HEXA):c.558C>T (p.Ile186=) rs144652159
NM_000520.6(HEXA):c.559C>T (p.Leu187=) rs1390872805
NM_000520.6(HEXA):c.566C>G (p.Thr189Ser)
NM_000520.6(HEXA):c.568C>T (p.Leu190=)
NM_000520.6(HEXA):c.568_569del (p.Leu190fs) rs2088721832
NM_000520.6(HEXA):c.570+10C>A rs1453635996
NM_000520.6(HEXA):c.570+10C>G rs1453635996
NM_000520.6(HEXA):c.570+10C>T
NM_000520.6(HEXA):c.570+11C>T
NM_000520.6(HEXA):c.570+16G>A
NM_000520.6(HEXA):c.570+1G>A rs786204754
NM_000520.6(HEXA):c.570+3A>C
NM_000520.6(HEXA):c.570+7A>C
NM_000520.6(HEXA):c.570+9G>C rs2088721599
NM_000520.6(HEXA):c.570G>A (p.Leu190=)
NM_000520.6(HEXA):c.571-15C>A rs2140324790
NM_000520.6(HEXA):c.571-16G>T
NM_000520.6(HEXA):c.571-19T>C
NM_000520.6(HEXA):c.571-4A>G rs2140324768
NM_000520.6(HEXA):c.571-6C>T
NM_000520.6(HEXA):c.571-7C>T
NM_000520.6(HEXA):c.571-8A>C rs2140324777
NM_000520.6(HEXA):c.572A>G (p.Asp191Gly) rs2140324755
NM_000520.6(HEXA):c.576C>T (p.Val192=)
NM_000520.6(HEXA):c.577A>G (p.Met193Val) rs748427632
NM_000520.6(HEXA):c.57G>C (p.Arg19=)
NM_000520.6(HEXA):c.582G>C (p.Ala194=) rs112614306
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.598G>T (p.Val200Leu)
NM_000520.6(HEXA):c.59C>G (p.Ala20Gly)
NM_000520.6(HEXA):c.59C>T (p.Ala20Val) rs749545037
NM_000520.6(HEXA):c.603C>T (p.Phe201=) rs767318868
NM_000520.6(HEXA):c.606C>T (p.His202=) rs2140324709
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly) rs1002712424
NM_000520.6(HEXA):c.60G>T (p.Ala20=)
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs) rs1057517296
NM_000520.6(HEXA):c.617T>C (p.Val206Ala) rs2140324697
NM_000520.6(HEXA):c.627T>G (p.Pro209=)
NM_000520.6(HEXA):c.629C>A (p.Ser210Tyr)
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) rs121907961
NM_000520.6(HEXA):c.62C>T (p.Thr21Met)
NM_000520.6(HEXA):c.631_634del (p.Phe211fs) rs2088690227
NM_000520.6(HEXA):c.633C>T (p.Phe211=) rs2140324675
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) rs1057519461
NM_000520.6(HEXA):c.638A>G (p.Tyr213Cys)
NM_000520.6(HEXA):c.63G>A (p.Thr21=)
NM_000520.6(HEXA):c.63G>T (p.Thr21=)
NM_000520.6(HEXA):c.642G>C (p.Glu214Asp)
NM_000520.6(HEXA):c.651T>G (p.Thr217=) rs773807075
NM_000520.6(HEXA):c.658G>C (p.Glu220Gln)
NM_000520.6(HEXA):c.65C>T (p.Ala22Val)
NM_000520.6(HEXA):c.660G>A (p.Glu220=) rs2140324649
NM_000520.6(HEXA):c.663C>G (p.Leu221=)
NM_000520.6(HEXA):c.664A>G (p.Met222Val) rs768751360
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly) rs1595800426
NM_000520.6(HEXA):c.668G>A (p.Arg223Lys)
NM_000520.6(HEXA):c.66C>T (p.Ala22=) rs990896217
NM_000520.6(HEXA):c.672+11G>T
NM_000520.6(HEXA):c.672+14T>A
NM_000520.6(HEXA):c.672+1G>A rs387906311
NM_000520.6(HEXA):c.672+1G>T
NM_000520.6(HEXA):c.672+2T>C rs2140324625
NM_000520.6(HEXA):c.672+3A>T
NM_000520.6(HEXA):c.672+8C>T
NM_000520.6(HEXA):c.672+9C>G rs2140324618
NM_000520.6(HEXA):c.672G>A (p.Lys224=)
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn) rs780134593
NM_000520.6(HEXA):c.673-11G>A
NM_000520.6(HEXA):c.673-11G>C
NM_000520.6(HEXA):c.673-16G>C
NM_000520.6(HEXA):c.673-4T>C rs1171895864
NM_000520.6(HEXA):c.673-60_673-17del rs1183071056
NM_000520.6(HEXA):c.673-7C>T
NM_000520.6(HEXA):c.675G>T (p.Gly225=)
NM_000520.6(HEXA):c.678C>A (p.Ser226=) rs2140324260
NM_000520.6(HEXA):c.680A>G (p.Tyr227Cys)
NM_000520.6(HEXA):c.684C>T (p.Asn228=) rs2140324256
NM_000520.6(HEXA):c.699C>G (p.Ile233Met) rs2140324240
NM_000520.6(HEXA):c.69C>A (p.Leu23=)
NM_000520.6(HEXA):c.69C>T (p.Leu23=) rs143554538
NM_000520.6(HEXA):c.701A>G (p.Tyr234Cys)
NM_000520.6(HEXA):c.702C>T (p.Tyr234=)
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) rs150675340
NM_000520.6(HEXA):c.70T>A (p.Trp24Arg) rs2140344766
NM_000520.6(HEXA):c.720G>A (p.Lys240=)
NM_000520.6(HEXA):c.723G>A (p.Glu241=) rs1435809210
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys) rs1555475519
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.6(HEXA):c.736G>T (p.Ala246Ser) rs758166013
NM_000520.6(HEXA):c.738A>C (p.Ala246=) rs2140324194
NM_000520.6(HEXA):c.743del (p.Leu248fs) rs2140324174
NM_000520.6(HEXA):c.744C>T (p.Leu248=)
NM_000520.6(HEXA):c.746G>A (p.Arg249Gln) rs1297800753
NM_000520.6(HEXA):c.747G>C (p.Arg249=)
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000520.6(HEXA):c.749del (p.Gly250fs)
NM_000520.6(HEXA):c.750T>C (p.Gly250=) rs2088681348
NM_000520.6(HEXA):c.753C>T (p.Ile251=)
NM_000520.6(HEXA):c.757G>T (p.Val253Leu)
NM_000520.6(HEXA):c.75C>G (p.Pro25=) rs2089060038
NM_000520.6(HEXA):c.75C>T (p.Pro25=) rs2089060038
NM_000520.6(HEXA):c.762T>C (p.Leu254=) rs1595800026
NM_000520.6(HEXA):c.764C>T (p.Ala255Val)
NM_000520.6(HEXA):c.765A>G (p.Ala255=)
NM_000520.6(HEXA):c.768G>A (p.Glu256=) rs1218888083
NM_000520.6(HEXA):c.775A>G (p.Thr259Ala) rs745997044
NM_000520.6(HEXA):c.785A>G (p.His262Arg)
NM_000520.6(HEXA):c.787A>G (p.Thr263Ala)
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) rs121907964
NM_000520.6(HEXA):c.792G>A (p.Leu264=) rs2140324097
NM_000520.6(HEXA):c.797G>A (p.Trp266Ter)
NM_000520.6(HEXA):c.805+10A>T rs2140324073
NM_000520.6(HEXA):c.805+12G>T
NM_000520.6(HEXA):c.805+14C>T
NM_000520.6(HEXA):c.805+1G>A rs121907980
NM_000520.6(HEXA):c.805+8T>C rs2140324076
NM_000520.6(HEXA):c.805+9G>C
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) rs121907954
NM_000520.6(HEXA):c.806-10C>A rs2140323098
NM_000520.6(HEXA):c.806-11T>C
NM_000520.6(HEXA):c.806-19G>A
NM_000520.6(HEXA):c.806-8T>C rs2140323096
NM_000520.6(HEXA):c.806G>A (p.Gly269Asp) rs2088664194
NM_000520.6(HEXA):c.80C>T (p.Pro27Leu)
NM_000520.6(HEXA):c.810C>T (p.Ile270=) rs2140323086
NM_000520.6(HEXA):c.813T>G (p.Pro271=)
NM_000520.6(HEXA):c.814G>A (p.Gly272Arg)
NM_000520.6(HEXA):c.818T>C (p.Leu273Ser) rs2088664026
NM_000520.6(HEXA):c.820C>T (p.Leu274=)
NM_000520.6(HEXA):c.823A>G (p.Thr275Ala)
NM_000520.6(HEXA):c.826C>G (p.Pro276Ala)
NM_000520.6(HEXA):c.828T>G (p.Pro276=)
NM_000520.6(HEXA):c.831C>T (p.Cys277=)
NM_000520.6(HEXA):c.833A>G (p.Tyr278Cys) rs772036483
NM_000520.6(HEXA):c.834C>G (p.Tyr278Ter)
NM_000520.6(HEXA):c.843T>C (p.Ser281=) rs2140323055
NM_000520.6(HEXA):c.846G>A (p.Glu282=) rs1362329720
NM_000520.6(HEXA):c.848C>T (p.Pro283Leu)
NM_000520.6(HEXA):c.849C>A (p.Pro283=)
NM_000520.6(HEXA):c.849C>G (p.Pro283=) rs2140323045
NM_000520.6(HEXA):c.849C>T (p.Pro283=) rs2140323045
NM_000520.6(HEXA):c.855_856insTC (p.Thr286fs)
NM_000520.6(HEXA):c.857C>T (p.Thr286Ile)
NM_000520.6(HEXA):c.858C>T (p.Thr286=) rs748958444
NM_000520.6(HEXA):c.859T>C (p.Phe287Leu)
NM_000520.6(HEXA):c.861T>C (p.Phe287=)
NM_000520.6(HEXA):c.889A>G (p.Thr297Ala)
NM_000520.6(HEXA):c.88T>G (p.Phe30Val) rs2140344740
NM_000520.6(HEXA):c.893A>G (p.Tyr298Cys) rs1396944040
NM_000520.6(HEXA):c.896A>C (p.Glu299Ala)
NM_000520.6(HEXA):c.8G>T (p.Ser3Ile) rs374524755
NM_000520.6(HEXA):c.900C>T (p.Phe300=)
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.907A>C (p.Thr303Pro) rs759837903
NM_000520.6(HEXA):c.908C>T (p.Thr303Ile)
NM_000520.6(HEXA):c.909A>G (p.Thr303=)
NM_000520.6(HEXA):c.909A>T (p.Thr303=) rs2088661576
NM_000520.6(HEXA):c.912C>T (p.Phe304=) rs1385655581
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del) rs121907960
NM_000520.6(HEXA):c.913T>C (p.Phe305Leu)
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter) rs556872918
NM_000520.6(HEXA):c.921A>G (p.Glu307=) rs1457483877
NM_000520.6(HEXA):c.924C>T (p.Val308=) rs2140322950
NM_000520.6(HEXA):c.926G>A (p.Ser309Asn) rs2088661242
NM_000520.6(HEXA):c.926G>C (p.Ser309Thr)
NM_000520.6(HEXA):c.929C>T (p.Ser310Phe)
NM_000520.6(HEXA):c.929_930del (p.Ser310fs) rs751248523
NM_000520.6(HEXA):c.930T>C (p.Ser310=)
NM_000520.6(HEXA):c.931_942del (p.Val311_Asp314del)
NM_000520.6(HEXA):c.933C>T (p.Val311=) rs2088661117
NM_000520.6(HEXA):c.936C>T (p.Phe312=)
NM_000520.6(HEXA):c.938del (p.Pro313fs) rs2140322934
NM_000520.6(HEXA):c.939A>G (p.Pro313=)
NM_000520.6(HEXA):c.947A>G (p.Tyr316Cys)
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu) rs1316178162
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) rs772180415
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) rs772180415
NM_000520.6(HEXA):c.965A>G (p.Asp322Gly)
NM_000520.6(HEXA):c.965A>T (p.Asp322Val)
NM_000520.6(HEXA):c.967G>T (p.Glu323Ter)
NM_000520.6(HEXA):c.969G>A (p.Glu323=)
NM_000520.6(HEXA):c.96C>G (p.Thr32=)
NM_000520.6(HEXA):c.96C>T (p.Thr32=) rs2140344723
NM_000520.6(HEXA):c.984C>T (p.Cys328=)
NM_000520.6(HEXA):c.986+10C>A
NM_000520.6(HEXA):c.986+1G>A rs2140322856
NM_000520.6(HEXA):c.986+1G>C rs2140322856
NM_000520.6(HEXA):c.986+20C>A
NM_000520.6(HEXA):c.986+6A>T
NM_000520.6(HEXA):c.986+7G>C
NM_000520.6(HEXA):c.986+8C>T rs2140322848
NM_000520.6(HEXA):c.986+9C>A
NM_000520.6(HEXA):c.986G>A (p.Trp329Ter)
NM_000520.6(HEXA):c.987-12C>T
NM_000520.6(HEXA):c.987-19A>T
NM_000520.6(HEXA):c.98C>G (p.Ser33Cys) rs1416996557
NM_000520.6(HEXA):c.994A>C (p.Asn332His)
NM_000520.6(HEXA):c.995A>T (p.Asn332Ile) rs2140322212
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)
NM_000520.6(HEXA):c.997C>G (p.Pro333Ala)
NM_000520.6(HEXA):c.99C>A (p.Ser33=) rs2140344713
NM_000520.6(HEXA):c.99C>T (p.Ser33=)

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