ClinVar Miner

List of variants studied for Congenital myasthenic syndrome 4A by Labcorp Genetics (formerly Invitae), Labcorp

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Minimum conflict level:
ClinVar version:
Total variants: 1133
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HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.1293C>T (p.Ala431=) rs33978919 0.18207
NM_000080.4(CHRNE):c.917+15C>G rs12942540 0.16130
NM_000080.4(CHRNE):c.1305A>G (p.Arg435=) rs55681486 0.07419
NM_000080.4(CHRNE):c.345-7C>T rs72835059 0.07330
NM_000080.4(CHRNE):c.1033-6C>T rs2075763 0.06916
NM_000080.4(CHRNE):c.519C>T (p.Ala173=) rs33970119 0.03958
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) rs4790235 0.02635
NM_000080.4(CHRNE):c.45C>T (p.Leu15=) rs34563587 0.02026
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=) rs114454383 0.00816
NM_000080.4(CHRNE):c.918-6C>G rs141408756 0.00277
NM_000080.4(CHRNE):c.1220-5G>A rs188564977 0.00267
NM_000080.4(CHRNE):c.1076C>T (p.Pro359Leu) rs192195094 0.00240
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=) rs151193377 0.00197
NM_000080.4(CHRNE):c.344+18C>T rs201821934 0.00145
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=) rs145456588 0.00133
NM_000080.4(CHRNE):c.918-14T>C rs375376258 0.00124
NM_000080.4(CHRNE):c.555C>T (p.Asp185=) rs137952354 0.00096
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000080.4(CHRNE):c.1245C>T (p.Ala415=) rs202051373 0.00045
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr) rs146931108 0.00044
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00041
NM_000080.4(CHRNE):c.46+20G>A rs368007857 0.00032
NM_000080.4(CHRNE):c.66C>T (p.Asn22=) rs55770091 0.00031
NM_000080.4(CHRNE):c.1321G>A (p.Gly441Ser) rs375221757 0.00030
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala) rs199807050 0.00025
NM_000080.4(CHRNE):c.46+5G>A rs375802288 0.00025
NM_000080.4(CHRNE):c.1169G>C (p.Arg390Pro) rs568952207 0.00019
NM_000080.4(CHRNE):c.556G>A (p.Gly186Ser) rs764960076 0.00019
NM_000080.4(CHRNE):c.1458C>T (p.Pro486=) rs768977197 0.00017
NM_000080.4(CHRNE):c.1119G>T (p.Ser373=) rs372862723 0.00016
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val) rs201463598 0.00016
NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys) rs757968612 0.00013
NM_000080.4(CHRNE):c.1327-3C>T rs749489742 0.00013
NM_000080.4(CHRNE):c.455T>A (p.Val152Asp) rs142901746 0.00013
NM_000080.4(CHRNE):c.6A>G (p.Ala2=) rs202198207 0.00013
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro) rs142735836 0.00013
NM_000080.4(CHRNE):c.1183T>G (p.Phe395Val) rs755802710 0.00011
NM_000080.4(CHRNE):c.1033-14_1033-13insT rs886053124 0.00010
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu) rs148370803 0.00010
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_000080.4(CHRNE):c.1047G>A (p.Leu349=) rs974390828 0.00009
NM_000080.4(CHRNE):c.1462G>A (p.Ala488Thr) rs780592951 0.00009
NM_000080.4(CHRNE):c.345-11C>T rs756213541 0.00009
NM_000080.4(CHRNE):c.465C>T (p.Phe155=) rs139625105 0.00009
NM_000080.4(CHRNE):c.671G>A (p.Gly224Asp) rs141183965 0.00009
NM_000080.4(CHRNE):c.699G>A (p.Ser233=) rs375146171 0.00009
NM_000080.4(CHRNE):c.1413C>T (p.Ser471=) rs372792059 0.00008
NM_000080.4(CHRNE):c.345-12C>T rs369060595 0.00008
NM_000080.4(CHRNE):c.768C>T (p.Gly256=) rs372509633 0.00008
NM_000080.4(CHRNE):c.820A>G (p.Thr274Ala) rs774407731 0.00008
NM_000080.4(CHRNE):c.1051C>T (p.Pro351Ser) rs964034772 0.00007
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=) rs772143528 0.00007
NM_000080.4(CHRNE):c.1278C>T (p.Ala426=) rs751593666 0.00007
NM_000080.4(CHRNE):c.1446G>A (p.Val482=) rs376713095 0.00007
NM_000080.4(CHRNE):c.189+13C>T rs149323467 0.00007
NM_000080.4(CHRNE):c.1074G>A (p.Pro358=) rs745744138 0.00006
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=) rs767374241 0.00006
NM_000080.4(CHRNE):c.1115C>T (p.Ala372Val) rs912512352 0.00006
NM_000080.4(CHRNE):c.1262G>A (p.Arg421His) rs144952259 0.00006
NM_000080.4(CHRNE):c.1345C>T (p.Arg449Cys) rs149083639 0.00006
NM_000080.4(CHRNE):c.174G>A (p.Thr58=) rs373275223 0.00006
NM_000080.4(CHRNE):c.406G>A (p.Val136Met) rs773822199 0.00006
NM_000080.4(CHRNE):c.480G>A (p.Gln160=) rs754300536 0.00006
NM_000080.4(CHRNE):c.726C>T (p.Phe242=) rs150133823 0.00006
NM_000080.4(CHRNE):c.780C>T (p.Leu260=) rs766792066 0.00006
NM_000080.4(CHRNE):c.804C>T (p.Ala268=) rs775149431 0.00006
NM_000080.4(CHRNE):c.948G>A (p.Thr316=) rs144207552 0.00006
NM_000080.4(CHRNE):c.1032+17C>T rs372131102 0.00005
NM_000080.4(CHRNE):c.1033-20A>G rs1449745005 0.00005
NM_000080.4(CHRNE):c.1103C>T (p.Pro368Leu) rs371919434 0.00005
NM_000080.4(CHRNE):c.1137C>G (p.Leu379=) rs368940455 0.00005
NM_000080.4(CHRNE):c.1138C>T (p.Arg380Cys) rs376093621 0.00005
NM_000080.4(CHRNE):c.1168C>T (p.Arg390Trp) rs140763858 0.00005
NM_000080.4(CHRNE):c.127C>T (p.Arg43Trp) rs756429518 0.00005
NM_000080.4(CHRNE):c.1282A>T (p.Asn428Tyr) rs758716291 0.00005
NM_000080.4(CHRNE):c.1419C>A (p.Ile473=) rs750097789 0.00005
NM_000080.4(CHRNE):c.462C>T (p.Tyr154=) rs781427923 0.00005
NM_000080.4(CHRNE):c.509C>G (p.Thr170Arg) rs375652301 0.00005
NM_000080.4(CHRNE):c.947C>T (p.Thr316Met) rs146533655 0.00005
NM_000080.4(CHRNE):c.1220-6C>T rs56251503 0.00004
NM_000080.4(CHRNE):c.1267T>A (p.Cys423Ser) rs372515997 0.00004
NM_000080.4(CHRNE):c.1335C>T (p.Ser445=) rs753202734 0.00004
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=) rs201030784 0.00004
NM_000080.4(CHRNE):c.1390G>A (p.Val464Met) rs771016534 0.00004
NM_000080.4(CHRNE):c.1407C>T (p.Gly469=) rs377178938 0.00004
NM_000080.4(CHRNE):c.15G>A (p.Pro5=) rs756933520 0.00004
NM_000080.4(CHRNE):c.189+9C>T rs1415170062 0.00004
NM_000080.4(CHRNE):c.46+8C>T rs371778870 0.00004
NM_000080.4(CHRNE):c.543C>G (p.Ala181=) rs766195083 0.00004
NM_000080.4(CHRNE):c.598A>G (p.Thr200Ala) rs1336284577 0.00004
NM_000080.4(CHRNE):c.670G>A (p.Gly224Ser) rs531123327 0.00004
NM_000080.4(CHRNE):c.781G>T (p.Ala261Ser) rs762509943 0.00004
NM_000080.4(CHRNE):c.818G>C (p.Cys273Ser) rs745821689 0.00004
NM_000080.4(CHRNE):c.866del (p.Leu289fs) rs1451776623 0.00004
NM_000080.4(CHRNE):c.951C>T (p.Leu317=) rs757563966 0.00004
NM_000080.4(CHRNE):c.1007_1025del (p.His336fs) rs1268475945 0.00003
NM_000080.4(CHRNE):c.1056C>T (p.Arg352=) rs558633663 0.00003
NM_000080.4(CHRNE):c.1220-14_1220-3dup rs1969840591 0.00003
NM_000080.4(CHRNE):c.1220-3C>T rs545198600 0.00003
NM_000080.4(CHRNE):c.1289T>G (p.Val430Gly) rs200343520 0.00003
NM_000080.4(CHRNE):c.1323C>T (p.Gly441=) rs758517310 0.00003
NM_000080.4(CHRNE):c.1327-14C>T rs149892066 0.00003
NM_000080.4(CHRNE):c.1327-18G>C rs1028107315 0.00003
NM_000080.4(CHRNE):c.1332G>C (p.Val444=) rs376975376 0.00003
NM_000080.4(CHRNE):c.189+5G>A rs906477326 0.00003
NM_000080.4(CHRNE):c.345-20C>T rs780779198 0.00003
NM_000080.4(CHRNE):c.46+4C>T rs760244900 0.00003
NM_000080.4(CHRNE):c.501-18C>T rs772873394 0.00003
NM_000080.4(CHRNE):c.601+10C>T rs1175424462 0.00003
NM_000080.4(CHRNE):c.709C>T (p.Arg237Cys) rs769424853 0.00003
NM_000080.4(CHRNE):c.802+18A>G rs755437862 0.00003
NM_000080.4(CHRNE):c.802+7A>C rs756213406 0.00003
NM_000080.4(CHRNE):c.883C>T (p.Pro295Ser) rs61735425 0.00003
NM_000080.4(CHRNE):c.969C>A (p.Val323=) rs532669011 0.00003
NM_000080.4(CHRNE):c.971del (p.Ile324fs) rs879255562 0.00003
NM_000080.4(CHRNE):c.991C>A (p.Arg331=) rs121909515 0.00003
NM_000080.4(CHRNE):c.-95G>A rs990457690 0.00002
NM_000080.4(CHRNE):c.1032+14G>C rs575066645 0.00002
NM_000080.4(CHRNE):c.1033-9C>A rs1055824191 0.00002
NM_000080.4(CHRNE):c.1055G>A (p.Arg352His) rs764744220 0.00002
NM_000080.4(CHRNE):c.1060C>T (p.Leu354=) rs763847983 0.00002
NM_000080.4(CHRNE):c.1075C>T (p.Pro359Ser) rs773187552 0.00002
NM_000080.4(CHRNE):c.1090C>T (p.Arg364Trp) rs747368522 0.00002
NM_000080.4(CHRNE):c.1098C>T (p.Ala366=) rs778313885 0.00002
NM_000080.4(CHRNE):c.1100C>T (p.Ser367Leu) rs753495337 0.00002
NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp) rs754001856 0.00002
NM_000080.4(CHRNE):c.1211C>T (p.Thr404Ile) rs747853975 0.00002
NM_000080.4(CHRNE):c.1301C>T (p.Thr434Met) rs1049573372 0.00002
NM_000080.4(CHRNE):c.1434C>A (p.Tyr478Ter) rs763943642 0.00002
NM_000080.4(CHRNE):c.1455C>T (p.Leu485=) rs369916656 0.00002
NM_000080.4(CHRNE):c.1466C>T (p.Pro489Leu) rs575920043 0.00002
NM_000080.4(CHRNE):c.1467G>A (p.Pro489=) rs950225592 0.00002
NM_000080.4(CHRNE):c.155G>A (p.Ser52Asn) rs759127314 0.00002
NM_000080.4(CHRNE):c.16C>T (p.Leu6Phe) rs746521766 0.00002
NM_000080.4(CHRNE):c.186A>G (p.Ser62=) rs1351580796 0.00002
NM_000080.4(CHRNE):c.234+20T>A rs1240336285 0.00002
NM_000080.4(CHRNE):c.237T>C (p.Asp79=) rs777458923 0.00002
NM_000080.4(CHRNE):c.258C>T (p.Asn86=) rs368022587 0.00002
NM_000080.4(CHRNE):c.264C>A (p.Ser88Arg) rs1412898874 0.00002
NM_000080.4(CHRNE):c.325G>A (p.Glu109Lys) rs779426416 0.00002
NM_000080.4(CHRNE):c.329T>C (p.Ile110Thr) rs1276426047 0.00002
NM_000080.4(CHRNE):c.360C>T (p.Phe120=) rs140042356 0.00002
NM_000080.4(CHRNE):c.457A>T (p.Thr153Ser) rs535287601 0.00002
NM_000080.4(CHRNE):c.47-14T>C rs2507564049 0.00002
NM_000080.4(CHRNE):c.47-5C>T rs753134441 0.00002
NM_000080.4(CHRNE):c.501-19C>T rs370186965 0.00002
NM_000080.4(CHRNE):c.501-5C>T rs766711118 0.00002
NM_000080.4(CHRNE):c.510G>A (p.Thr170=) rs749454549 0.00002
NM_000080.4(CHRNE):c.557G>A (p.Gly186Asp) rs1279921545 0.00002
NM_000080.4(CHRNE):c.602-4G>T rs761086547 0.00002
NM_000080.4(CHRNE):c.646C>T (p.Arg216Cys) rs577641512 0.00002
NM_000080.4(CHRNE):c.705C>G (p.Ile235Met) rs748765369 0.00002
NM_000080.4(CHRNE):c.720G>T (p.Pro240=) rs1049141147 0.00002
NM_000080.4(CHRNE):c.756G>A (p.Val252=) rs756407780 0.00002
NM_000080.4(CHRNE):c.803-2A>G rs1320610655 0.00002
NM_000080.4(CHRNE):c.819C>T (p.Cys273=) rs887770442 0.00002
NM_000080.4(CHRNE):c.852C>T (p.Thr284=) rs770586668 0.00002
NM_000080.4(CHRNE):c.906G>A (p.Pro302=) rs374156332 0.00002
NM_000080.4(CHRNE):c.989A>G (p.Gln330Arg) rs747017964 0.00002
NC_000017.11:g.4903159G>A rs748144899 0.00001
NM_000080.4(CHRNE):c.1002C>T (p.Thr334=) rs747880376 0.00001
NM_000080.4(CHRNE):c.1003A>G (p.Thr335Ala) rs1216965153 0.00001
NM_000080.4(CHRNE):c.1004C>T (p.Thr335Ile) rs781253835 0.00001
NM_000080.4(CHRNE):c.1005C>T (p.Thr335=) rs1247241612 0.00001
NM_000080.4(CHRNE):c.1008C>T (p.His336=) rs768479748 0.00001
NM_000080.4(CHRNE):c.1018C>T (p.Pro340Ser) rs1019584942 0.00001
NM_000080.4(CHRNE):c.1024C>T (p.Leu342=) rs778130828 0.00001
NM_000080.4(CHRNE):c.1027C>T (p.Arg343Cys) rs1422523453 0.00001
NM_000080.4(CHRNE):c.1029C>T (p.Arg343=) rs1172630871 0.00001
NM_000080.4(CHRNE):c.1030C>G (p.His344Asp) rs886053125 0.00001
NM_000080.4(CHRNE):c.1031A>G (p.His344Arg) rs756571784 0.00001
NM_000080.4(CHRNE):c.1032+10G>C rs2151095067 0.00001
NM_000080.4(CHRNE):c.1032+8C>T rs755463469 0.00001
NM_000080.4(CHRNE):c.1032+9G>A rs752020505 0.00001
NM_000080.4(CHRNE):c.1033-1G>C rs755303686 0.00001
NM_000080.4(CHRNE):c.1033-2A>T rs786204773 0.00001
NM_000080.4(CHRNE):c.1052C>T (p.Pro351Leu) rs1168592296 0.00001
NM_000080.4(CHRNE):c.1053G>A (p.Pro351=) rs1290320477 0.00001
NM_000080.4(CHRNE):c.1059C>T (p.Leu353=) rs1292243112 0.00001
NM_000080.4(CHRNE):c.1065C>T (p.Gly355=) rs775638720 0.00001
NM_000080.4(CHRNE):c.1066T>C (p.Ser356Pro) rs954120463 0.00001
NM_000080.4(CHRNE):c.1067C>T (p.Ser356Phe) rs1347589330 0.00001
NM_000080.4(CHRNE):c.1068C>T (p.Ser356=) rs986495754 0.00001
NM_000080.4(CHRNE):c.1073C>T (p.Pro358Leu) rs974582156 0.00001
NM_000080.4(CHRNE):c.1077G>T (p.Pro359=) rs907495464 0.00001
NM_000080.4(CHRNE):c.1078C>T (p.Pro360Ser) rs998988224 0.00001
NM_000080.4(CHRNE):c.1080C>G (p.Pro360=) rs886042727 0.00001
NM_000080.4(CHRNE):c.1085C>T (p.Ala362Val) rs1053507936 0.00001
NM_000080.4(CHRNE):c.1086C>T (p.Ala362=) rs1213521480 0.00001
NM_000080.4(CHRNE):c.1092G>A (p.Arg364=) rs2507541754 0.00001
NM_000080.4(CHRNE):c.1093G>A (p.Ala365Thr) rs780327519 0.00001
NM_000080.4(CHRNE):c.1096G>C (p.Ala366Pro) rs1467371203 0.00001
NM_000080.4(CHRNE):c.1122G>A (p.Ser374=) rs1047142793 0.00001
NM_000080.4(CHRNE):c.1128C>T (p.Gly376=) rs1449525013 0.00001
NM_000080.4(CHRNE):c.1141G>A (p.Ala381Thr) rs547989166 0.00001
NM_000080.4(CHRNE):c.1143G>A (p.Ala381=) rs942583372 0.00001
NM_000080.4(CHRNE):c.1146G>A (p.Glu382=) rs1236139496 0.00001
NM_000080.4(CHRNE):c.1156C>T (p.Leu386=) rs752358041 0.00001
NM_000080.4(CHRNE):c.1158G>A (p.Leu386=) rs1969852604 0.00001
NM_000080.4(CHRNE):c.1164del (p.Lys388fs) rs1222065184 0.00001
NM_000080.4(CHRNE):c.1170G>C (p.Arg390=) rs955030428 0.00001
NM_000080.4(CHRNE):c.1191G>T (p.Gly397=) rs779084533 0.00001
NM_000080.4(CHRNE):c.1197G>A (p.Arg399=) rs867064180 0.00001
NM_000080.4(CHRNE):c.1201C>T (p.Arg401Trp) rs551856227 0.00001
NM_000080.4(CHRNE):c.1203G>C (p.Arg401=) rs1969848614 0.00001
NM_000080.4(CHRNE):c.1209G>A (p.Gly403=) rs1414430330 0.00001
NM_000080.4(CHRNE):c.1219+15C>T rs758374649 0.00001
NM_000080.4(CHRNE):c.1219+16C>T rs943839124 0.00001
NM_000080.4(CHRNE):c.1219+23G>A rs764196413 0.00001
NM_000080.4(CHRNE):c.1219+9A>G rs559923437 0.00001
NM_000080.4(CHRNE):c.121C>T (p.Pro41Ser) rs2507563560 0.00001
NM_000080.4(CHRNE):c.1220-18C>T rs773921388 0.00001
NM_000080.4(CHRNE):c.1220-1G>A rs373710822 0.00001
NM_000080.4(CHRNE):c.1220-2A>C rs1309292778 0.00001
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778 0.00001
NM_000080.4(CHRNE):c.1220-4C>T rs201553105 0.00001
NM_000080.4(CHRNE):c.1228T>C (p.Cys410Arg) rs753739289 0.00001
NM_000080.4(CHRNE):c.1231C>T (p.Gln411Ter) rs1969839736 0.00001
NM_000080.4(CHRNE):c.1254C>T (p.Pro418=) rs1420851295 0.00001
NM_000080.4(CHRNE):c.1255G>A (p.Glu419Lys) rs754975887 0.00001
NM_000080.4(CHRNE):c.1261C>T (p.Arg421Cys) rs369709668 0.00001
NM_000080.4(CHRNE):c.1279G>A (p.Val427Met) rs780122731 0.00001
NM_000080.4(CHRNE):c.1284C>T (p.Asn428=) rs750634265 0.00001
NM_000080.4(CHRNE):c.1287C>T (p.Phe429=) rs1349711476 0.00001
NM_000080.4(CHRNE):c.1288G>A (p.Val430Met) rs1348466102 0.00001
NM_000080.4(CHRNE):c.1290G>A (p.Val430=) rs1416247967 0.00001
NM_000080.4(CHRNE):c.1299C>T (p.Ser433=) rs773970037 0.00001
NM_000080.4(CHRNE):c.1303A>C (p.Arg435=) rs1486674648 0.00001
NM_000080.4(CHRNE):c.1311G>A (p.Gln437=) rs898442941 0.00001
NM_000080.4(CHRNE):c.1314G>C (p.Glu438Asp) rs772995680 0.00001
NM_000080.4(CHRNE):c.1317C>T (p.Ala439=) rs769630764 0.00001
NM_000080.4(CHRNE):c.1320C>T (p.Thr440=) rs1292101958 0.00001
NM_000080.4(CHRNE):c.1326+7C>T rs779261310 0.00001
NM_000080.4(CHRNE):c.1327-10C>T rs779066933 0.00001
NM_000080.4(CHRNE):c.1341G>A (p.Trp447Ter) rs918839874 0.00001
NM_000080.4(CHRNE):c.1359C>T (p.Ala453=) rs1412855797 0.00001
NM_000080.4(CHRNE):c.1368C>T (p.Asn456=) rs1374818797 0.00001
NM_000080.4(CHRNE):c.1370T>C (p.Ile457Thr) rs1361578187 0.00001
NM_000080.4(CHRNE):c.1376T>G (p.Phe459Cys) rs768717142 0.00001
NM_000080.4(CHRNE):c.1377C>T (p.Phe459=) rs1486567580 0.00001
NM_000080.4(CHRNE):c.1395C>T (p.Leu465=) rs1207444316 0.00001
NM_000080.4(CHRNE):c.1401C>T (p.Ser467=) rs770123245 0.00001
NM_000080.4(CHRNE):c.1424T>A (p.Leu475His) rs764935677 0.00001
NM_000080.4(CHRNE):c.1431C>T (p.Ala477=) rs545473686 0.00001
NM_000080.4(CHRNE):c.1450G>C (p.Asp484His) rs374577354 0.00001
NM_000080.4(CHRNE):c.1453C>T (p.Leu485Phe) rs1085307690 0.00001
NM_000080.4(CHRNE):c.1461C>T (p.Tyr487=) rs373293781 0.00001
NM_000080.4(CHRNE):c.1463C>T (p.Ala488Val) rs1372953960 0.00001
NM_000080.4(CHRNE):c.1471A>G (p.Ile491Val) rs753512613 0.00001
NM_000080.4(CHRNE):c.1473C>T (p.Ile491=) rs764033389 0.00001
NM_000080.4(CHRNE):c.159C>G (p.Leu53=) rs1970030477 0.00001
NM_000080.4(CHRNE):c.178C>T (p.Leu60Phe) rs370840663 0.00001
NM_000080.4(CHRNE):c.180C>T (p.Leu60=) rs1486738510 0.00001
NM_000080.4(CHRNE):c.183C>T (p.Ile61=) rs761677000 0.00001
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs) rs776927709 0.00001
NM_000080.4(CHRNE):c.189+12C>T rs1970028737 0.00001
NM_000080.4(CHRNE):c.189G>A (p.Leu63=) rs768469610 0.00001
NM_000080.4(CHRNE):c.195A>G (p.Glu65=) rs1334272633 0.00001
NM_000080.4(CHRNE):c.204G>A (p.Glu68=) rs1970025417 0.00001
NM_000080.4(CHRNE):c.213C>T (p.Thr71=) rs764949297 0.00001
NM_000080.4(CHRNE):c.235-17C>T rs746315640 0.00001
NM_000080.4(CHRNE):c.235-5C>T rs371818740 0.00001
NM_000080.4(CHRNE):c.235-7C>T rs935955868 0.00001
NM_000080.4(CHRNE):c.235-8C>A rs374325420 0.00001
NM_000080.4(CHRNE):c.235G>C (p.Asp79His) rs1200020913 0.00001
NM_000080.4(CHRNE):c.261C>T (p.Tyr87=) rs1423670662 0.00001
NM_000080.4(CHRNE):c.26T>G (p.Leu9Arg) rs1344336890 0.00001
NM_000080.4(CHRNE):c.293T>C (p.Leu98Pro) rs28929768 0.00001
NM_000080.4(CHRNE):c.301C>G (p.Pro101Ala) rs1440717363 0.00001
NM_000080.4(CHRNE):c.30C>T (p.Leu10=) rs1567640491 0.00001
NM_000080.4(CHRNE):c.311T>C (p.Leu104Pro) rs772495418 0.00001
NM_000080.4(CHRNE):c.312C>T (p.Leu104=) rs1341141356 0.00001
NM_000080.4(CHRNE):c.345-17T>A rs758366677 0.00001
NM_000080.4(CHRNE):c.345-4A>G rs375169047 0.00001
NM_000080.4(CHRNE):c.345T>A (p.Asn115Lys) rs1388515362 0.00001
NM_000080.4(CHRNE):c.357G>A (p.Gln119=) rs747638974 0.00001
NM_000080.4(CHRNE):c.359T>C (p.Phe120Ser) rs771356927 0.00001
NM_000080.4(CHRNE):c.35T>G (p.Leu12Trp) rs758635056 0.00001
NM_000080.4(CHRNE):c.362G>T (p.Gly121Val) rs746582621 0.00001
NM_000080.4(CHRNE):c.372C>T (p.Tyr124=) rs894382905 0.00001
NM_000080.4(CHRNE):c.373G>A (p.Asp125Asn) rs1056080125 0.00001
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00001
NM_000080.4(CHRNE):c.381C>T (p.Asn127=) rs756301699 0.00001
NM_000080.4(CHRNE):c.387C>A (p.Leu129=) rs767908282 0.00001
NM_000080.4(CHRNE):c.399C>T (p.Gly133=) rs751665448 0.00001
NM_000080.4(CHRNE):c.39G>T (p.Gly13=) rs1247743244 0.00001
NM_000080.4(CHRNE):c.400G>A (p.Gly134Ser) rs183983159 0.00001
NM_000080.4(CHRNE):c.405C>T (p.Ser135=) rs1174619470 0.00001
NM_000080.4(CHRNE):c.41T>A (p.Leu14His) rs765641852 0.00001
NM_000080.4(CHRNE):c.420T>C (p.Pro140=) rs886038226 0.00001
NM_000080.4(CHRNE):c.422C>T (p.Pro141Leu) rs121909512 0.00001
NM_000080.4(CHRNE):c.428T>C (p.Ile143Thr) rs1484300953 0.00001
NM_000080.4(CHRNE):c.435C>T (p.Arg145=) rs1194731229 0.00001
NM_000080.4(CHRNE):c.441C>A (p.Val147=) rs779058823 0.00001
NM_000080.4(CHRNE):c.46+3A>G rs1363310064 0.00001
NM_000080.4(CHRNE):c.46+4_46+8del rs1388295687 0.00001
NM_000080.4(CHRNE):c.468C>T (p.Pro156=) rs751830305 0.00001
NM_000080.4(CHRNE):c.46G>A (p.Gly16Ser) rs764552360 0.00001
NM_000080.4(CHRNE):c.47-10C>T rs761183088 0.00001
NM_000080.4(CHRNE):c.47-11C>T rs764642253 0.00001
NM_000080.4(CHRNE):c.474T>C (p.Asp158=) rs150868720 0.00001
NM_000080.4(CHRNE):c.48C>T (p.Gly16=) rs1298469161 0.00001
NM_000080.4(CHRNE):c.497T>G (p.Phe166Cys) rs1385608948 0.00001
NM_000080.4(CHRNE):c.500+17C>T rs770784393 0.00001
NM_000080.4(CHRNE):c.500+18G>A rs1198808902 0.00001
NM_000080.4(CHRNE):c.500+8G>T rs759432257 0.00001
NM_000080.4(CHRNE):c.500G>T (p.Arg167Leu) rs121909514 0.00001
NM_000080.4(CHRNE):c.501-17C>T rs765028313 0.00001
NM_000080.4(CHRNE):c.501-3C>T rs772091251 0.00001
NM_000080.4(CHRNE):c.507G>A (p.Gln169=) rs1378463179 0.00001
NM_000080.4(CHRNE):c.516T>C (p.Asn172=) rs143410438 0.00001
NM_000080.4(CHRNE):c.520G>A (p.Glu174Lys) rs1597620368 0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs) rs758687208 0.00001
NM_000080.4(CHRNE):c.534C>T (p.Phe178=) rs1246145838 0.00001
NM_000080.4(CHRNE):c.544G>C (p.Val182Leu) rs1198430909 0.00001
NM_000080.4(CHRNE):c.552C>T (p.Asn184=) rs978516236 0.00001
NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser) rs753756406 0.00001
NM_000080.4(CHRNE):c.580A>T (p.Ile194Phe) rs1020146692 0.00001
NM_000080.4(CHRNE):c.585C>T (p.Asp195=) rs954677814 0.00001
NM_000080.4(CHRNE):c.588A>C (p.Thr196=) rs763114306 0.00001
NM_000080.4(CHRNE):c.591G>A (p.Glu197=) rs1969984066 0.00001
NM_000080.4(CHRNE):c.601+19del rs1465639640 0.00001
NM_000080.4(CHRNE):c.602-11C>A rs931818729 0.00001
NM_000080.4(CHRNE):c.602-9G>A rs1382185555 0.00001
NM_000080.4(CHRNE):c.604A>T (p.Asn202Tyr) rs760565441 0.00001
NM_000080.4(CHRNE):c.637G>A (p.Val213Met) rs1174721586 0.00001
NM_000080.4(CHRNE):c.647G>A (p.Arg216His) rs1359029030 0.00001
NM_000080.4(CHRNE):c.651C>T (p.His217=) rs564044217 0.00001
NM_000080.4(CHRNE):c.653A>C (p.His218Pro) rs376001778 0.00001
NM_000080.4(CHRNE):c.654C>G (p.His218Gln) rs751388919 0.00001
NM_000080.4(CHRNE):c.669C>T (p.Asp223=) rs1463132688 0.00001
NM_000080.4(CHRNE):c.673C>A (p.Pro225Thr) rs1023841193 0.00001
NM_000080.4(CHRNE):c.687del (p.Asp229fs) rs1250853600 0.00001
NM_000080.4(CHRNE):c.691A>G (p.Ile231Val) rs1226552673 0.00001
NM_000080.4(CHRNE):c.702C>G (p.Leu234=) rs1344473749 0.00001
NM_000080.4(CHRNE):c.706A>C (p.Ile236Leu) rs145522662 0.00001
NM_000080.4(CHRNE):c.711C>T (p.Arg237=) rs1284199369 0.00001
NM_000080.4(CHRNE):c.723C>T (p.Leu241=) rs886053126 0.00001
NM_000080.4(CHRNE):c.73C>T (p.Leu25=) rs1970032941 0.00001
NM_000080.4(CHRNE):c.745G>A (p.Val249Met) rs757421529 0.00001
NM_000080.4(CHRNE):c.753T>C (p.Cys251=) rs777939796 0.00001
NM_000080.4(CHRNE):c.762C>T (p.Ile254=) rs752926340 0.00001
NM_000080.4(CHRNE):c.769C>T (p.Leu257=) rs140846401 0.00001
NM_000080.4(CHRNE):c.76C>T (p.Arg26Cys) rs773131873 0.00001
NM_000080.4(CHRNE):c.784T>C (p.Tyr262His) rs769228953 0.00001
NM_000080.4(CHRNE):c.794C>G (p.Pro265Arg) rs759226183 0.00001
NM_000080.4(CHRNE):c.795G>A (p.Pro265=) rs1567638559 0.00001
NM_000080.4(CHRNE):c.802+16G>A rs979841930 0.00001
NM_000080.4(CHRNE):c.802+9T>C rs199876621 0.00001
NM_000080.4(CHRNE):c.803-10C>G rs1326169288 0.00001
NM_000080.4(CHRNE):c.803-6C>T rs961218388 0.00001
NM_000080.4(CHRNE):c.803-7C>T rs1314331863 0.00001
NM_000080.4(CHRNE):c.803-8C>T rs760314762 0.00001
NM_000080.4(CHRNE):c.831C>T (p.Ile277=) rs755170993 0.00001
NM_000080.4(CHRNE):c.834C>T (p.Asn278=) rs996197218 0.00001
NM_000080.4(CHRNE):c.846C>G (p.Ala282=) rs780429979 0.00001
NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter) rs748103983 0.00001
NM_000080.4(CHRNE):c.856T>G (p.Phe286Val) rs756844933 0.00001
NM_000080.4(CHRNE):c.859T>C (p.Leu287=) rs1969957668 0.00001
NM_000080.4(CHRNE):c.867C>G (p.Leu289=) rs763590279 0.00001
NM_000080.4(CHRNE):c.873C>A (p.Ala291=) rs1326940305 0.00001
NM_000080.4(CHRNE):c.900C>T (p.Ser300=) rs747224472 0.00001
NM_000080.4(CHRNE):c.904C>G (p.Pro302Ala) rs979787967 0.00001
NM_000080.4(CHRNE):c.917+17C>T rs752447974 0.00001
NM_000080.4(CHRNE):c.917+7C>T rs961101973 0.00001
NM_000080.4(CHRNE):c.917+8C>A rs1337368697 0.00001
NM_000080.4(CHRNE):c.917+9G>T rs754325287 0.00001
NM_000080.4(CHRNE):c.918-10G>C rs1597615614 0.00001
NM_000080.4(CHRNE):c.918-12C>T rs774059277 0.00001
NM_000080.4(CHRNE):c.918-16C>T rs1309241271 0.00001
NM_000080.4(CHRNE):c.918-17C>G rs771664527 0.00001
NM_000080.4(CHRNE):c.918-17C>T rs771664527 0.00001
NM_000080.4(CHRNE):c.918-4T>C rs1300080950 0.00001
NM_000080.4(CHRNE):c.934_936del (p.Met312del) rs1555546465 0.00001
NM_000080.4(CHRNE):c.945C>T (p.Ala315=) rs758560981 0.00001
NM_000080.4(CHRNE):c.96C>T (p.Phe32=) rs1315961107 0.00001
NM_000080.4(CHRNE):c.972C>T (p.Ile324=) rs1405865454 0.00001
NM_000080.4(CHRNE):c.980A>G (p.Asn327Ser) rs989354140 0.00001
NM_000080.4(CHRNE):c.981C>T (p.Asn327=) rs958190024 0.00001
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829 0.00001
NM_000080.4(CHRNE):c.999C>T (p.Pro333=) rs769677038 0.00001
NC_000017.10:g.(?_4801070)_(4804202_?)del
NC_000017.10:g.(?_4802011)_(4850135_?)dup
NC_000017.10:g.(?_4802021)_(4802196_?)del
NC_000017.10:g.(?_4804068)_(4806078_?)del
NC_000017.10:g.(?_4804800)_(4805809_?)dup
NC_000017.10:g.(?_4804800)_(4806078_?)dup
NC_000017.10:g.(?_4804937)_(4805847_?)del
NC_000017.10:g.(?_4805539)_(4806690_?)del
NC_000017.11:g.(?_4898726)_(4948404_?)del
NC_000017.11:g.(?_4898726)_(5024161_?)dup
NC_000017.11:g.(?_4901641)_(4903159_?)del
NC_000017.11:g.4903157C>T
NM_000080.4(CHRNE):c.1000A>G (p.Thr334Ala) rs1164118107
NM_000080.4(CHRNE):c.1002_1008dup (p.Ala337fs) rs757396750
NM_000080.4(CHRNE):c.1003A>C (p.Thr335Pro) rs1216965153
NM_000080.4(CHRNE):c.1006C>T (p.His336Tyr) rs144747573
NM_000080.4(CHRNE):c.1007A>C (p.His336Pro)
NM_000080.4(CHRNE):c.1008C>G (p.His336Gln) rs768479748
NM_000080.4(CHRNE):c.1009G>A (p.Ala337Thr) rs1567636930
NM_000080.4(CHRNE):c.1011C>T (p.Ala337=) rs1555546423
NM_000080.4(CHRNE):c.1012A>G (p.Met338Val) rs200035803
NM_000080.4(CHRNE):c.1012del (p.Met338fs) rs2151095155
NM_000080.4(CHRNE):c.1016C>T (p.Ser339Phe) rs1332740871
NM_000080.4(CHRNE):c.1017C>T (p.Ser339=) rs114454383
NM_000080.4(CHRNE):c.1019C>A (p.Pro340Gln) rs139922367
NM_000080.4(CHRNE):c.1019C>G (p.Pro340Arg) rs139922367
NM_000080.4(CHRNE):c.1019C>T (p.Pro340Leu) rs139922367
NM_000080.4(CHRNE):c.1020G>A (p.Pro340=) rs2507543479
NM_000080.4(CHRNE):c.1021C>T (p.Arg341Trp) rs1597615227
NM_000080.4(CHRNE):c.1022G>A (p.Arg341Gln) rs369641727
NM_000080.4(CHRNE):c.1023G>T (p.Arg341=) rs1172575232
NM_000080.4(CHRNE):c.1025T>C (p.Leu342Pro) rs1230039635
NM_000080.4(CHRNE):c.1026G>T (p.Leu342=) rs2151095114
NM_000080.4(CHRNE):c.1027C>A (p.Arg343Ser) rs1422523453
NM_000080.4(CHRNE):c.1028G>T (p.Arg343Leu) rs2507543417
NM_000080.4(CHRNE):c.1032+10G>A rs2151095067
NM_000080.4(CHRNE):c.1032+11A>G rs2507543283
NM_000080.4(CHRNE):c.1032+12G>A rs1969874579
NM_000080.4(CHRNE):c.1032+12_1032+13insC rs2507543264
NM_000080.4(CHRNE):c.1032+13G>C rs765913515
NM_000080.4(CHRNE):c.1032+14G>A rs575066645
NM_000080.4(CHRNE):c.1032+18G>A rs2507543209
NM_000080.4(CHRNE):c.1032+1G>A rs1458613529
NM_000080.4(CHRNE):c.1032+20T>G rs2507543195
NM_000080.4(CHRNE):c.1032+3A>C rs897318956
NM_000080.4(CHRNE):c.1032+7G>A rs2507543328
NM_000080.4(CHRNE):c.1032+9G>C rs752020505
NM_000080.4(CHRNE):c.1032+9G>T rs752020505
NM_000080.4(CHRNE):c.1032C>A (p.His344Gln) rs144047383
NM_000080.4(CHRNE):c.1032C>G (p.His344Gln) rs144047383
NM_000080.4(CHRNE):c.1032C>T (p.His344=) rs144047383
NM_000080.4(CHRNE):c.1033-10C>T
NM_000080.4(CHRNE):c.1033-11C>T rs2507542594
NM_000080.4(CHRNE):c.1033-12C>A rs1332892379
NM_000080.4(CHRNE):c.1033-13G>A rs1567636730
NM_000080.4(CHRNE):c.1033-13G>T rs1567636730
NM_000080.4(CHRNE):c.1033-18GCCCC[3] rs1555546374
NM_000080.4(CHRNE):c.1033-22_1033-9dup rs764991750
NM_000080.4(CHRNE):c.1033-2del rs2494853019
NM_000080.4(CHRNE):c.1033-3_1033-2insGCCCCTGCCCCT rs761361955
NM_000080.4(CHRNE):c.1033-4C>A rs1046859320
NM_000080.4(CHRNE):c.1033-5C>T rs928738409
NM_000080.4(CHRNE):c.1033-6_1033-1dup rs886053123
NM_000080.4(CHRNE):c.1033-8_1033-3dup rs761361955
NM_000080.4(CHRNE):c.1033-9del rs2507542538
NM_000080.4(CHRNE):c.1036C>G (p.Leu346Val) rs1471932042
NM_000080.4(CHRNE):c.1038C>A (p.Leu346=) rs1275628199
NM_000080.4(CHRNE):c.1038C>T (p.Leu346=) rs1275628199
NM_000080.4(CHRNE):c.1039C>T (p.Leu347=) rs1237161492
NM_000080.4(CHRNE):c.1045C>T (p.Leu349=) rs2507542286
NM_000080.4(CHRNE):c.1048C>G (p.Leu350Val)
NM_000080.4(CHRNE):c.1049T>A (p.Leu350Gln) rs1969864400
NM_000080.4(CHRNE):c.1055G>T (p.Arg352Leu) rs764744220
NM_000080.4(CHRNE):c.1056C>A (p.Arg352=) rs558633663
NM_000080.4(CHRNE):c.105T>A (p.Tyr35Ter) rs2151098928
NM_000080.4(CHRNE):c.105T>C (p.Tyr35=) rs2151098928
NM_000080.4(CHRNE):c.1061T>C (p.Leu354Pro) rs760538111
NM_000080.4(CHRNE):c.1061_1068del (p.Leu354fs)
NM_000080.4(CHRNE):c.1062_1081dup (p.Glu361fs) rs2151094729
NM_000080.4(CHRNE):c.1063G>C (p.Gly355Arg) rs2507542110
NM_000080.4(CHRNE):c.1064G>C (p.Gly355Ala) rs1295826534
NM_000080.4(CHRNE):c.1064del (p.Gly355fs) rs1567636622
NM_000080.4(CHRNE):c.1068C>A (p.Ser356=) rs986495754
NM_000080.4(CHRNE):c.1070C>T (p.Pro357Leu) rs1026988403
NM_000080.4(CHRNE):c.1070dup (p.Pro358fs) rs2507542040
NM_000080.4(CHRNE):c.1071GCC[2] (p.Pro360del) rs752226476
NM_000080.4(CHRNE):c.1071GCC[4] (p.Pro360dup) rs752226476
NM_000080.4(CHRNE):c.1072_1081del (p.Pro358fs) rs2507541898
NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs) rs932032926
NM_000080.4(CHRNE):c.1076C>A (p.Pro359Gln) rs192195094
NM_000080.4(CHRNE):c.1076_1115del (p.Pro359fs) rs2151094632
NM_000080.4(CHRNE):c.1077_1098dup (p.Ser367fs) rs1555546315
NM_000080.4(CHRNE):c.1080C>T (p.Pro360=) rs886042727
NM_000080.4(CHRNE):c.1080_1098dup (p.Ser367fs) rs1969858094
NM_000080.4(CHRNE):c.1085C>A (p.Ala362Asp) rs1053507936
NM_000080.4(CHRNE):c.1085C>G (p.Ala362Gly) rs1053507936
NM_000080.4(CHRNE):c.1086_1111dup (p.Arg371fs) rs2507541545
NM_000080.4(CHRNE):c.108C>T (p.Asp36=) rs1211928633
NM_000080.4(CHRNE):c.1090C>A (p.Arg364=) rs747368522
NM_000080.4(CHRNE):c.1090dup (p.Arg364fs) rs1156634884
NM_000080.4(CHRNE):c.1093G>T (p.Ala365Ser)
NM_000080.4(CHRNE):c.1093del (p.Ala365fs) rs886043239
NM_000080.4(CHRNE):c.1095C>T (p.Ala365=) rs750889051
NM_000080.4(CHRNE):c.1096_1105dup (p.Pro369fs) rs1255916068
NM_000080.4(CHRNE):c.1098C>A (p.Ala366=) rs778313885
NM_000080.4(CHRNE):c.1101G>A (p.Ser367=) rs1969857597
NM_000080.4(CHRNE):c.1101G>C (p.Ser367=) rs1969857597
NM_000080.4(CHRNE):c.1102C>A (p.Pro368Thr) rs763837110
NM_000080.4(CHRNE):c.1104C>A (p.Pro368=) rs767374241
NM_000080.4(CHRNE):c.1108A>C (p.Arg370=) rs774315307
NM_000080.4(CHRNE):c.1108del (p.Arg370fs) rs1969856640
NM_000080.4(CHRNE):c.110C>G (p.Pro37Arg)
NM_000080.4(CHRNE):c.1111C>A (p.Arg371=) rs769811534
NM_000080.4(CHRNE):c.1113_1174del (p.Ser373fs) rs2507541023
NM_000080.4(CHRNE):c.1114G>C (p.Ala372Pro)
NM_000080.4(CHRNE):c.1116G>A (p.Ala372=) rs1226276974
NM_000080.4(CHRNE):c.1116_1128del (p.Ser373fs) rs1398583523
NM_000080.4(CHRNE):c.1117T>G (p.Ser373Ala) rs1555546304
NM_000080.4(CHRNE):c.1119G>A (p.Ser373=) rs372862723
NM_000080.4(CHRNE):c.1119G>C (p.Ser373=) rs372862723
NM_000080.4(CHRNE):c.1121C>A (p.Ser374Ter) rs768869197
NM_000080.4(CHRNE):c.1121C>T (p.Ser374Leu)
NM_000080.4(CHRNE):c.1122G>C (p.Ser374=) rs1047142793
NM_000080.4(CHRNE):c.1129T>C (p.Leu377=) rs2507541403
NM_000080.4(CHRNE):c.1134G>A (p.Leu378=) rs2507541376
NM_000080.4(CHRNE):c.1135C>A (p.Leu379Ile)
NM_000080.4(CHRNE):c.1135C>T (p.Leu379Phe) rs1297785771
NM_000080.4(CHRNE):c.1137C>T (p.Leu379=) rs368940455
NM_000080.4(CHRNE):c.1139G>C (p.Arg380Pro) rs930096641
NM_000080.4(CHRNE):c.1140C>T (p.Arg380=) rs919759171
NM_000080.4(CHRNE):c.1142C>T (p.Ala381Val) rs756786529
NM_000080.4(CHRNE):c.1143G>C (p.Ala381=) rs942583372
NM_000080.4(CHRNE):c.1144GAG[1] (p.Glu383del) rs961784740
NM_000080.4(CHRNE):c.114_118dup (p.Arg40fs) rs2151098905
NM_000080.4(CHRNE):c.1150C>T (p.Leu384=) rs1567636354
NM_000080.4(CHRNE):c.1151T>C (p.Leu384Pro) rs753397420
NM_000080.4(CHRNE):c.1152G>T (p.Leu384=) rs777363943
NM_000080.4(CHRNE):c.1155A>G (p.Ile385Met) rs755854654
NM_000080.4(CHRNE):c.1155A>T (p.Ile385=) rs755854654
NM_000080.4(CHRNE):c.1158dup (p.Lys387fs) rs2151094540
NM_000080.4(CHRNE):c.115dup (p.Ser39fs) rs977512223
NM_000080.4(CHRNE):c.1161A>G (p.Lys387=) rs2151094537
NM_000080.4(CHRNE):c.1161_1162insT (p.Lys388Ter) rs886037628
NM_000080.4(CHRNE):c.1164G>A (p.Lys388=) rs767462219
NM_000080.4(CHRNE):c.1166C>T (p.Pro389Leu)
NM_000080.4(CHRNE):c.1167A>G (p.Pro389=) rs1211648043
NM_000080.4(CHRNE):c.1168C>A (p.Arg390=) rs140763858
NM_000080.4(CHRNE):c.1170G>A (p.Arg390=) rs955030428
NM_000080.4(CHRNE):c.1172G>A (p.Ser391Asn) rs138546068
NM_000080.4(CHRNE):c.1172_1173delinsTT (p.Ser391Ile) rs1555546288
NM_000080.4(CHRNE):c.1173C>A (p.Ser391Arg) rs146921234
NM_000080.4(CHRNE):c.1173C>T (p.Ser391=) rs146921234
NM_000080.4(CHRNE):c.1176G>A (p.Glu392=) rs768670572
NM_000080.4(CHRNE):c.1176G>C (p.Glu392Asp) rs768670572
NM_000080.4(CHRNE):c.1179C>A (p.Leu393=) rs1159106476
NM_000080.4(CHRNE):c.1179C>G (p.Leu393=) rs1159106476
NM_000080.4(CHRNE):c.1179C>T (p.Leu393=) rs1159106476
NM_000080.4(CHRNE):c.117C>T (p.Ser39=) rs1970031660
NM_000080.4(CHRNE):c.1180G>T (p.Val394Leu) rs772486503
NM_000080.4(CHRNE):c.1181_1187dup (p.Glu396delinsAspValTer) rs1423995073
NM_000080.4(CHRNE):c.1185T>C (p.Phe395=) rs2507540928
NM_000080.4(CHRNE):c.1188G>A (p.Glu396=) rs2507540910
NM_000080.4(CHRNE):c.1192C>A (p.Gln398Lys) rs771486772
NM_000080.4(CHRNE):c.1192C>T (p.Gln398Ter) rs771486772
NM_000080.4(CHRNE):c.1199A>C (p.His400Pro)
NM_000080.4(CHRNE):c.11_14dup (p.Leu6fs) rs2507565283
NM_000080.4(CHRNE):c.1200C>T (p.His400=) rs2151094448
NM_000080.4(CHRNE):c.1202G>A (p.Arg401Gln)
NM_000080.4(CHRNE):c.1203G>A (p.Arg401=) rs1969848614
NM_000080.4(CHRNE):c.1203del (p.Gln402fs) rs1429181185
NM_000080.4(CHRNE):c.1204C>T (p.Gln402Ter) rs1323709805
NM_000080.4(CHRNE):c.1208G>A (p.Gly403Glu) rs1310787375
NM_000080.4(CHRNE):c.1212C>A (p.Thr404=) rs1300177355
NM_000080.4(CHRNE):c.1212C>T (p.Thr404=) rs1300177355
NM_000080.4(CHRNE):c.1214G>A (p.Trp405Ter) rs2151094398
NM_000080.4(CHRNE):c.1214G>C (p.Trp405Ser) rs2151094398
NM_000080.4(CHRNE):c.1216_1219+19del rs760623071
NM_000080.4(CHRNE):c.1217C>A (p.Thr406Lys) rs532120320
NM_000080.4(CHRNE):c.1218G>A (p.Thr406=) rs751373916
NM_000080.4(CHRNE):c.1219+12G>A rs1445748983
NM_000080.4(CHRNE):c.1219+17T>C rs1969846582
NM_000080.4(CHRNE):c.1219+17T>G rs1969846582
NM_000080.4(CHRNE):c.1219+17_1219+22del rs148340961
NM_000080.4(CHRNE):c.1219+19G>T rs1264061966
NM_000080.4(CHRNE):c.1219+1G>C rs2507540629
NM_000080.4(CHRNE):c.1219+20C>T rs2507540436
NM_000080.4(CHRNE):c.1219+2T>G rs2151094378
NM_000080.4(CHRNE):c.1219+5_1219+6dup rs2507540576
NM_000080.4(CHRNE):c.1219+8C>G rs1474684898
NM_000080.4(CHRNE):c.1219+8C>T rs1474684898
NM_000080.4(CHRNE):c.1219+8dup rs2507540559
NM_000080.4(CHRNE):c.1220-10del rs2507539736
NM_000080.4(CHRNE):c.1220-14G>A rs1393853245
NM_000080.4(CHRNE):c.1220-15T>C rs770426765
NM_000080.4(CHRNE):c.1220-16G>A rs2507539764
NM_000080.4(CHRNE):c.1220-19C>A rs1407865805
NM_000080.4(CHRNE):c.1220-1G>C rs373710822
NM_000080.4(CHRNE):c.1220-20C>A rs1332911148
NM_000080.4(CHRNE):c.1220-4C>A rs201553105
NM_000080.4(CHRNE):c.1220-4C>G rs201553105
NM_000080.4(CHRNE):c.1220-5G>T rs188564977
NM_000080.4(CHRNE):c.1220-6C>G rs56251503
NM_000080.4(CHRNE):c.1220-6_1227del rs1567635954
NM_000080.4(CHRNE):c.1220-7C>G rs1969840882
NM_000080.4(CHRNE):c.1220-8_1227dup rs2151094080
NM_000080.4(CHRNE):c.1220-9C>G rs748607118
NM_000080.4(CHRNE):c.1223C>G (p.Ala408Gly) rs778624148
NM_000080.4(CHRNE):c.1233G>A (p.Gln411=) rs2151094069
NM_000080.4(CHRNE):c.1236C>T (p.Ser412=) rs2507539503
NM_000080.4(CHRNE):c.1238dup (p.Ala415fs) rs2507539355
NM_000080.4(CHRNE):c.1239G>C (p.Leu413=) rs1969839608
NM_000080.4(CHRNE):c.1239G>T (p.Leu413=) rs1969839608
NM_000080.4(CHRNE):c.1242C>A (p.Gly414=) rs370770111
NM_000080.4(CHRNE):c.1242C>G (p.Gly414=) rs370770111
NM_000080.4(CHRNE):c.1242C>T (p.Gly414=) rs370770111
NM_000080.4(CHRNE):c.1248C>G (p.Ala416=)
NM_000080.4(CHRNE):c.1248C>T (p.Ala416=) rs966410323
NM_000080.4(CHRNE):c.1248_1266dup (p.Cys423fs) rs1567635867
NM_000080.4(CHRNE):c.1250_1268dup (p.Val424fs) rs781774131
NM_000080.4(CHRNE):c.1251C>A (p.Ala417=) rs2151094028
NM_000080.4(CHRNE):c.1251C>T (p.Ala417=) rs2151094028
NM_000080.4(CHRNE):c.1251_1266dup (p.Cys423fs) rs748694848
NM_000080.4(CHRNE):c.1252_1254dup (p.Pro418_Glu419insPro) rs769945146
NM_000080.4(CHRNE):c.1252_1267dup (p.Cys423fs) rs1597613479
NM_000080.4(CHRNE):c.1254C>G (p.Pro418=) rs1420851295
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs) rs769945146
NM_000080.4(CHRNE):c.1255G>T (p.Glu419Ter) rs754975887
NM_000080.4(CHRNE):c.1257G>A (p.Glu419=) rs775001449
NM_000080.4(CHRNE):c.1258del (p.Val420fs) rs1455970082
NM_000080.4(CHRNE):c.1261C>G (p.Arg421Gly) rs369709668
NM_000080.4(CHRNE):c.1266C>T (p.Cys422=) rs994146259
NM_000080.4(CHRNE):c.126G>A (p.Val42=) rs2507563534
NM_000080.4(CHRNE):c.1271_1290del (p.Val424fs) rs2151093952
NM_000080.4(CHRNE):c.1281G>A (p.Val427=) rs2151093968
NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro) rs121909517
NM_000080.4(CHRNE):c.1291G>T (p.Ala431Ser) rs121909517
NM_000080.4(CHRNE):c.1297_1314dup (p.Ser433_Glu438dup) rs1969834618
NM_000080.4(CHRNE):c.1299_1306del (p.Ser433fs)
NM_000080.4(CHRNE):c.1302G>A (p.Thr434=) rs770772272
NM_000080.4(CHRNE):c.1306_1307del (p.Asp436fs) rs1194524772
NM_000080.4(CHRNE):c.1308T>C (p.Asp436=) rs2507538516
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.1310A>T (p.Gln437Leu) rs1243723617
NM_000080.4(CHRNE):c.1318A>G (p.Thr440Ala) rs748069648
NM_000080.4(CHRNE):c.1319_1326+15del rs1208462125
NM_000080.4(CHRNE):c.1320C>A (p.Thr440=) rs1292101958
NM_000080.4(CHRNE):c.1323dup (p.Glu442fs) rs1597613302
NM_000080.4(CHRNE):c.1326+13_1326+32del rs780277856
NM_000080.4(CHRNE):c.1326+14C>T rs1969833016
NM_000080.4(CHRNE):c.1326+18G>A rs2507538186
NM_000080.4(CHRNE):c.1326+1G>A rs1430654625
NM_000080.4(CHRNE):c.1326+20C>A rs757760505
NM_000080.4(CHRNE):c.1326+2T>C rs1597613279
NM_000080.4(CHRNE):c.1326+6A>C rs886053122
NM_000080.4(CHRNE):c.1326+9G>A rs1171676082
NM_000080.4(CHRNE):c.1327-13G>C
NM_000080.4(CHRNE):c.1327-14C>G rs149892066
NM_000080.4(CHRNE):c.1327-17_1327-16del rs774197166
NM_000080.4(CHRNE):c.1327-20C>T rs1312286883
NM_000080.4(CHRNE):c.1327-21_1327-18del rs1283035067
NM_000080.4(CHRNE):c.1327-4C>G rs2151093603
NM_000080.4(CHRNE):c.1327-5C>A rs2151093607
NM_000080.4(CHRNE):c.1327-5C>T rs2151093607
NM_000080.4(CHRNE):c.1327-6C>T rs1969826283
NM_000080.4(CHRNE):c.1327-6dup rs770570480
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000080.4(CHRNE):c.1329A>G (p.Glu443=) rs2509299950
NM_000080.4(CHRNE):c.132G>A (p.Glu44=) rs2151098887
NM_000080.4(CHRNE):c.1332del (p.Ser445fs) rs2509299907
NM_000080.4(CHRNE):c.1335C>A (p.Ser445=) rs753202734
NM_000080.4(CHRNE):c.1335C>G (p.Ser445=) rs753202734
NM_000080.4(CHRNE):c.1338C>G (p.Asp446Glu) rs755412049
NM_000080.4(CHRNE):c.1338C>T (p.Asp446=) rs755412049
NM_000080.4(CHRNE):c.1343T>C (p.Val448Ala) rs1969824493
NM_000080.4(CHRNE):c.1344G>A (p.Val448=) rs143098859
NM_000080.4(CHRNE):c.1344G>C (p.Val448=) rs143098859
NM_000080.4(CHRNE):c.1345C>A (p.Arg449Ser) rs149083639
NM_000080.4(CHRNE):c.1350G>A (p.Met450Ile) rs761651772
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000080.4(CHRNE):c.1358C>T (p.Ala453Val) rs1567635469
NM_000080.4(CHRNE):c.1362T>C (p.Leu454=) rs2509299733
NM_000080.4(CHRNE):c.1363G>A (p.Asp455Asn) rs954298429
NM_000080.4(CHRNE):c.1364ACA[1] (p.Asn456del) rs748289906
NM_000080.4(CHRNE):c.1365C>T (p.Asp455=) rs1969823137
NM_000080.4(CHRNE):c.1371del (p.Cys458fs) rs1597612665
NM_000080.4(CHRNE):c.1379G>A (p.Trp460Ter) rs1157836847
NM_000080.4(CHRNE):c.137A>G (p.Glu46Gly) rs2507563451
NM_000080.4(CHRNE):c.1380G>A (p.Trp460Ter) rs1555546096
NM_000080.4(CHRNE):c.1381_1390del (p.Ala461fs) rs2509299493
NM_000080.4(CHRNE):c.1382C>T (p.Ala461Val) rs1419384371
NM_000080.4(CHRNE):c.1383C>A (p.Ala461=) rs570378547
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=) rs570378547
NM_000080.4(CHRNE):c.1383C>T (p.Ala461=) rs570378547
NM_000080.4(CHRNE):c.1383_1393del (p.Ala462fs) rs2509299464
NM_000080.4(CHRNE):c.1387C>T (p.Leu463=) rs2509299523
NM_000080.4(CHRNE):c.1388T>G (p.Leu463Arg) rs561591789
NM_000080.4(CHRNE):c.138G>A (p.Glu46=) rs2151098883
NM_000080.4(CHRNE):c.1402G>A (p.Val468Met) rs139171143
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.1402G>T (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.1404G>C (p.Val468=) rs2509299394
NM_000080.4(CHRNE):c.1406G>T (p.Gly469Val) rs1346830083
NM_000080.4(CHRNE):c.140A>T (p.Asp47Val)
NM_000080.4(CHRNE):c.1410C>T (p.Ser470=) rs2151093451
NM_000080.4(CHRNE):c.1419C>T (p.Ile473=) rs750097789
NM_000080.4(CHRNE):c.141T>C (p.Asp47=) rs2507563429
NM_000080.4(CHRNE):c.1428G>T (p.Gly476=) rs1969819934
NM_000080.4(CHRNE):c.1429del (p.Ala477fs) rs1396286715
NM_000080.4(CHRNE):c.1434C>T (p.Tyr478=) rs763943642
NM_000080.4(CHRNE):c.1439A>G (p.Asn480Ser) rs760738362
NM_000080.4(CHRNE):c.1441C>G (p.Arg481Gly) rs775550642
NM_000080.4(CHRNE):c.1441C>T (p.Arg481Ter) rs775550642
NM_000080.4(CHRNE):c.1443A>C (p.Arg481=) rs2151093399
NM_000080.4(CHRNE):c.1467G>T (p.Pro489=) rs950225592
NM_000080.4(CHRNE):c.1479T>G (p.Pro493=) rs2509298866
NM_000080.4(CHRNE):c.147C>T (p.Val49=) rs2507563407
NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?) rs1555546038
NM_000080.4(CHRNE):c.1481_*48del (p.Ter494LeuextTer?) rs1293466716
NM_000080.4(CHRNE):c.14C>T (p.Pro5Leu)
NM_000080.4(CHRNE):c.150C>T (p.Thr50=) rs2151098879
NM_000080.4(CHRNE):c.154_155insTCAGGTGACATACTGAGGATGACATACTGTCATCCG (p.Ser52delinsIleArgTer) rs2151098875
NM_000080.4(CHRNE):c.159C>T (p.Leu53=) rs1970030477
NM_000080.4(CHRNE):c.176A>T (p.Asn59Ile) rs2507563252
NM_000080.4(CHRNE):c.177T>C (p.Asn59=) rs1970030019
NM_000080.4(CHRNE):c.181A>G (p.Ile61Val) rs765180335
NM_000080.4(CHRNE):c.189+10C>A rs1341882862
NM_000080.4(CHRNE):c.189+10C>G rs1341882862
NM_000080.4(CHRNE):c.189+10C>T rs1341882862
NM_000080.4(CHRNE):c.189+14A>C rs1046457930
NM_000080.4(CHRNE):c.189+16C>A rs2507563114
NM_000080.4(CHRNE):c.189+1G>A rs1970029155
NM_000080.4(CHRNE):c.189+7dup rs2507563173
NM_000080.4(CHRNE):c.189+9C>A rs1415170062
NM_000080.4(CHRNE):c.190-10C>T rs2151098767
NM_000080.4(CHRNE):c.190-13C>G rs369898827
NM_000080.4(CHRNE):c.190-16C>T
NM_000080.4(CHRNE):c.190-17C>G rs2507562793
NM_000080.4(CHRNE):c.190-2A>G rs2507562728
NM_000080.4(CHRNE):c.190-4G>A rs2507562739
NM_000080.4(CHRNE):c.190-7T>C rs2151098764
NM_000080.4(CHRNE):c.190-9C>G rs2507562758
NM_000080.4(CHRNE):c.194A>G (p.Glu65Gly) rs2507562719
NM_000080.4(CHRNE):c.202G>A (p.Glu68Lys) rs149766604
NM_000080.4(CHRNE):c.202G>C (p.Glu68Gln) rs149766604
NM_000080.4(CHRNE):c.207T>A (p.Thr69=) rs2151098748
NM_000080.4(CHRNE):c.209_210del (p.Leu70fs) rs2507562677
NM_000080.4(CHRNE):c.210C>G (p.Leu70=) rs750125430
NM_000080.4(CHRNE):c.210C>T (p.Leu70=) rs750125430
NM_000080.4(CHRNE):c.216T>G (p.Thr72=) rs763887744
NM_000080.4(CHRNE):c.21G>C (p.Gly7=) rs1166759787
NM_000080.4(CHRNE):c.21G>T (p.Gly7=) rs1166759787
NM_000080.4(CHRNE):c.220G>A (p.Val74Ile)
NM_000080.4(CHRNE):c.224G>A (p.Trp75Ter) rs2507562564
NM_000080.4(CHRNE):c.234+17G>A rs1970023544
NM_000080.4(CHRNE):c.234+7C>T rs2507562485
NM_000080.4(CHRNE):c.235-10C>A rs778566436
NM_000080.4(CHRNE):c.235-10C>T rs778566436
NM_000080.4(CHRNE):c.235-15T>C rs1970019206
NM_000080.4(CHRNE):c.235-16A>G rs2507561878
NM_000080.4(CHRNE):c.235-18C>A rs2507561891
NM_000080.4(CHRNE):c.235-2A>G rs1597622118
NM_000080.4(CHRNE):c.235-5C>G rs371818740
NM_000080.4(CHRNE):c.235-6C>A rs564351576
NM_000080.4(CHRNE):c.235G>T (p.Asp79Tyr) rs1200020913
NM_000080.4(CHRNE):c.240G>A (p.Trp80Ter) rs1970018420
NM_000080.4(CHRNE):c.24C>A (p.Val8=) rs147811172
NM_000080.4(CHRNE):c.24C>G (p.Val8=)
NM_000080.4(CHRNE):c.250C>T (p.Arg84Ter) rs121909513
NM_000080.4(CHRNE):c.250del (p.Arg84fs) rs1555547003
NM_000080.4(CHRNE):c.255C>G (p.Leu85=) rs752486312
NM_000080.4(CHRNE):c.255C>T (p.Leu85=) rs752486312
NM_000080.4(CHRNE):c.264C>T (p.Ser88=) rs1412898874
NM_000080.4(CHRNE):c.264del (p.Ser88fs) rs2507561650
NM_000080.4(CHRNE):c.267G>A (p.Lys89=) rs2507561638
NM_000080.4(CHRNE):c.270C>T (p.Asp90=) rs759482700
NM_000080.4(CHRNE):c.27G>A (p.Leu9=) rs1970039108
NM_000080.4(CHRNE):c.281G>T (p.Gly94Val) rs765267109
NM_000080.4(CHRNE):c.282T>C (p.Gly94=) rs1597622032
NM_000080.4(CHRNE):c.293dup (p.Arg99fs) rs2507561549
NM_000080.4(CHRNE):c.294G>T (p.Leu98=) rs776006666
NM_000080.4(CHRNE):c.295C>A (p.Arg99=) rs1278514080
NM_000080.4(CHRNE):c.295C>T (p.Arg99Ter) rs1278514080
NM_000080.4(CHRNE):c.296G>A (p.Arg99Gln) rs1229501614
NM_000080.4(CHRNE):c.297A>C (p.Arg99=) rs2151098555
NM_000080.4(CHRNE):c.297A>G (p.Arg99=) rs2151098555
NM_000080.4(CHRNE):c.313G>A (p.Val105Met) rs746407563
NM_000080.4(CHRNE):c.313_319del (p.Val105fs) rs2507561424
NM_000080.4(CHRNE):c.315G>A (p.Val105=) rs2151098541
NM_000080.4(CHRNE):c.316T>C (p.Trp106Arg) rs2507561438
NM_000080.4(CHRNE):c.316_317del (p.Trp106fs) rs2151098538
NM_000080.4(CHRNE):c.318G>A (p.Trp106Ter) rs2507561429
NM_000080.4(CHRNE):c.31C>T (p.Leu11Phe) rs1245614875
NM_000080.4(CHRNE):c.327_328dup (p.Ile110fs) rs2507561395
NM_000080.4(CHRNE):c.328A>G (p.Ile110Val) rs2507561388
NM_000080.4(CHRNE):c.333G>T (p.Val111=) rs1970015453
NM_000080.4(CHRNE):c.336G>A (p.Leu112=) rs2507561350
NM_000080.4(CHRNE):c.337G>A (p.Glu113Lys) rs748799485
NM_000080.4(CHRNE):c.344+10G>A rs755779868
NM_000080.4(CHRNE):c.344+14C>A rs2507561253
NM_000080.4(CHRNE):c.344+7A>G rs1567639850
NM_000080.4(CHRNE):c.344+8C>T rs2151098517
NM_000080.4(CHRNE):c.344+9C>G rs371037732
NM_000080.4(CHRNE):c.344+9C>T rs371037732
NM_000080.4(CHRNE):c.345-13C>T rs750257362
NM_000080.4(CHRNE):c.345-19G>A rs201555272
NM_000080.4(CHRNE):c.345-19G>C rs201555272
NM_000080.4(CHRNE):c.345-19G>T rs201555272
NM_000080.4(CHRNE):c.345-1G>A rs2507560746
NM_000080.4(CHRNE):c.345-20C>G rs780779198
NM_000080.4(CHRNE):c.345-2A>G rs2151098412
NM_000080.4(CHRNE):c.345-2A>T rs2151098412
NM_000080.4(CHRNE):c.345-8G>A rs2151098423
NM_000080.4(CHRNE):c.348T>C (p.Ile116=) rs2507560722
NM_000080.4(CHRNE):c.35T>C (p.Leu12Ser) rs758635056
NM_000080.4(CHRNE):c.361G>T (p.Gly121Ter) rs1187421976
NM_000080.4(CHRNE):c.363A>G (p.Gly121=) rs779901038
NM_000080.4(CHRNE):c.365T>C (p.Val122Ala) rs1189824314
NM_000080.4(CHRNE):c.366G>A (p.Val122=) rs2151098392
NM_000080.4(CHRNE):c.370T>A (p.Tyr124Asn)
NM_000080.4(CHRNE):c.372C>G (p.Tyr124Ter) rs894382905
NM_000080.4(CHRNE):c.374A>G (p.Asp125Gly)
NM_000080.4(CHRNE):c.375C>T (p.Asp125=) rs758084108
NM_000080.4(CHRNE):c.376_377delinsTT (p.Ala126Phe) rs2507560567
NM_000080.4(CHRNE):c.380A>C (p.Asn127Thr) rs1597621555
NM_000080.4(CHRNE):c.384G>A (p.Val128=) rs2507560544
NM_000080.4(CHRNE):c.384_389del (p.Leu129_Val130del) rs1555546980
NM_000080.4(CHRNE):c.387C>G (p.Leu129=) rs767908282
NM_000080.4(CHRNE):c.387C>T (p.Leu129=) rs767908282
NM_000080.4(CHRNE):c.390C>T (p.Val130=) rs749659243
NM_000080.4(CHRNE):c.393C>G (p.Tyr131Ter) rs1567639631
NM_000080.4(CHRNE):c.393C>T (p.Tyr131=) rs1567639631
NM_000080.4(CHRNE):c.398G>A (p.Gly133Asp) rs2507560460
NM_000080.4(CHRNE):c.39G>A (p.Gly13=) rs1247743244
NM_000080.4(CHRNE):c.400_403dup (p.Ser135fs) rs2507560440
NM_000080.4(CHRNE):c.404C>G (p.Ser135Cys) rs763181728
NM_000080.4(CHRNE):c.410C>A (p.Thr137Lys) rs146089157
NM_000080.4(CHRNE):c.410C>T (p.Thr137Met) rs146089157
NM_000080.4(CHRNE):c.411G>A (p.Thr137=) rs2507560378
NM_000080.4(CHRNE):c.415C>T (p.Leu139=) rs776129600
NM_000080.4(CHRNE):c.419C>T (p.Pro140Leu) rs2507560329
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr) rs483353045
NM_000080.4(CHRNE):c.421C>G (p.Pro141Ala) rs483353045
NM_000080.4(CHRNE):c.426C>T (p.Ala142=) rs1970007044
NM_000080.4(CHRNE):c.433C>T (p.Arg145Cys) rs1064795871
NM_000080.4(CHRNE):c.436A>G (p.Ser146Gly)
NM_000080.4(CHRNE):c.438C>T (p.Ser146=) rs776429372
NM_000080.4(CHRNE):c.439_440insGAGGTCA (p.Val147fs) rs2151098295
NM_000080.4(CHRNE):c.441C>T (p.Val147=) rs779058823
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser) rs1597621396
NM_000080.4(CHRNE):c.443G>A (p.Cys148Tyr) rs2507560224
NM_000080.4(CHRNE):c.444C>T (p.Cys148=) rs970593355
NM_000080.4(CHRNE):c.445_458delinsA (p.Ala149fs) rs1597621353
NM_000080.4(CHRNE):c.446C>T (p.Ala149Val)
NM_000080.4(CHRNE):c.447_459del (p.Val150fs) rs1970005446
NM_000080.4(CHRNE):c.452_454del (p.Glu151del) rs2151098283
NM_000080.4(CHRNE):c.453_454dup (p.Val152fs) rs2507560177
NM_000080.4(CHRNE):c.46+11G>A rs2507565032
NM_000080.4(CHRNE):c.46+19G>A rs2507565010
NM_000080.4(CHRNE):c.46+1G>T rs746199600
NM_000080.4(CHRNE):c.46+5G>C
NM_000080.4(CHRNE):c.46+9_46+10del rs2151099125
NM_000080.4(CHRNE):c.468C>G (p.Pro156=) rs751830305
NM_000080.4(CHRNE):c.47-4G>A rs767084417
NM_000080.4(CHRNE):c.47-6T>C rs2507564009
NM_000080.4(CHRNE):c.47-8dup rs550750896
NM_000080.4(CHRNE):c.477G>A (p.Trp159Ter) rs2507560031
NM_000080.4(CHRNE):c.486T>C (p.Cys162=) rs2151098251
NM_000080.4(CHRNE):c.488C>G (p.Ser163Trp) rs121909516
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000080.4(CHRNE):c.489G>A (p.Ser163=) rs2151098246
NM_000080.4(CHRNE):c.489G>T (p.Ser163=) rs2151098246
NM_000080.4(CHRNE):c.500+16C>T rs2507559873
NM_000080.4(CHRNE):c.500+2T>C rs1597621216
NM_000080.4(CHRNE):c.500+8_500+9delinsTT rs2151098237
NM_000080.4(CHRNE):c.500+9A>C rs774299652
NM_000080.4(CHRNE):c.501-10_504dup rs768552387
NM_000080.4(CHRNE):c.501-12C>G rs2507557652
NM_000080.4(CHRNE):c.501-15G>A rs2507557673
NM_000080.4(CHRNE):c.501-17_501-5dup rs2507557633
NM_000080.4(CHRNE):c.501-1G>C rs2507557604
NM_000080.4(CHRNE):c.501-4G>A rs2151097867
NM_000080.4(CHRNE):c.501-4G>T rs2151097867
NM_000080.4(CHRNE):c.501-7T>C rs1266305481
NM_000080.4(CHRNE):c.505C>T (p.Gln169Ter) rs2507557553
NM_000080.4(CHRNE):c.506A>G (p.Gln169Arg) rs148370803
NM_000080.4(CHRNE):c.509C>T (p.Thr170Met) rs375652301
NM_000080.4(CHRNE):c.510G>T (p.Thr170=) rs749454549
NM_000080.4(CHRNE):c.513C>T (p.Tyr171=) rs1276027772
NM_000080.4(CHRNE):c.514A>T (p.Asn172Tyr)
NM_000080.4(CHRNE):c.515A>G (p.Asn172Ser) rs1439010217
NM_000080.4(CHRNE):c.51G>A (p.Arg17=) rs758923058
NM_000080.4(CHRNE):c.520G>T (p.Glu174Ter) rs1597620368
NM_000080.4(CHRNE):c.528G>A (p.Val176=) rs2151097833
NM_000080.4(CHRNE):c.529_531del (p.Glu177del) rs779816027
NM_000080.4(CHRNE):c.52G>A (p.Gly18Ser) rs1970033624
NM_000080.4(CHRNE):c.531G>A (p.Glu177=) rs1597620349
NM_000080.4(CHRNE):c.539T>C (p.Phe180Ser)
NM_000080.4(CHRNE):c.53G>C (p.Gly18Ala) rs4790235
NM_000080.4(CHRNE):c.540T>C (p.Phe180=) rs754577734
NM_000080.4(CHRNE):c.541G>A (p.Ala181Thr) rs751113232
NM_000080.4(CHRNE):c.543C>T (p.Ala181=) rs766195083
NM_000080.4(CHRNE):c.546A>G (p.Val182=) rs1483147188
NM_000080.4(CHRNE):c.549C>T (p.Asp183=) rs2151097801
NM_000080.4(CHRNE):c.550A>T (p.Asn184Tyr) rs1969986085
NM_000080.4(CHRNE):c.551dup (p.Asn184fs) rs2507557171
NM_000080.4(CHRNE):c.558C>G (p.Gly186=) rs761643342
NM_000080.4(CHRNE):c.560A>T (p.Lys187Met) rs1969985566
NM_000080.4(CHRNE):c.567C>A (p.Ile189=) rs936886552
NM_000080.4(CHRNE):c.569dup (p.Asn190fs) rs1969985315
NM_000080.4(CHRNE):c.570C>T (p.Asn190=) rs1969985137
NM_000080.4(CHRNE):c.572A>T (p.Lys191Met) rs1555546863
NM_000080.4(CHRNE):c.577G>A (p.Asp193Asn) rs1969984860
NM_000080.4(CHRNE):c.57G>A (p.Val19=) rs750099799
NM_000080.4(CHRNE):c.582C>A (p.Ile194=) rs2151097756
NM_000080.4(CHRNE):c.583G>A (p.Asp195Asn) rs774425374
NM_000080.4(CHRNE):c.583G>C (p.Asp195His) rs774425374
NM_000080.4(CHRNE):c.583G>T (p.Asp195Tyr) rs774425374
NM_000080.4(CHRNE):c.589G>T (p.Glu197Ter) rs2507556956
NM_000080.4(CHRNE):c.58G>A (p.Gly20Arg) rs1970033314
NM_000080.4(CHRNE):c.590_591del (p.Glu197fs) rs2151097742
NM_000080.4(CHRNE):c.594C>T (p.Ala198=) rs2151097737
NM_000080.4(CHRNE):c.599C>G (p.Thr200Ser) rs1969983733
NM_000080.4(CHRNE):c.601+14C>G rs2507556827
NM_000080.4(CHRNE):c.601+14C>T rs2507556827
NM_000080.4(CHRNE):c.601+1G>T rs2507556876
NM_000080.4(CHRNE):c.601+7C>A rs748517215
NM_000080.4(CHRNE):c.601+8C>T rs539874157
NM_000080.4(CHRNE):c.601+9C>T rs2151097723
NM_000080.4(CHRNE):c.601+9_601+10dup
NM_000080.4(CHRNE):c.602-10C>G rs765175027
NM_000080.4(CHRNE):c.602-10C>T rs765175027
NM_000080.4(CHRNE):c.602-10del rs2151097507
NM_000080.4(CHRNE):c.602-12C>T rs767412498
NM_000080.4(CHRNE):c.602-13C>T rs2507555406
NM_000080.4(CHRNE):c.602-14C>A rs202127846
NM_000080.4(CHRNE):c.602-14C>G rs202127846
NM_000080.4(CHRNE):c.602-14C>T rs202127846
NM_000080.4(CHRNE):c.602-17G>A rs1215540906
NM_000080.4(CHRNE):c.602-18C>T rs748823182
NM_000080.4(CHRNE):c.602-19C>A
NM_000080.4(CHRNE):c.602-19C>T rs756946862
NM_000080.4(CHRNE):c.602-1G>A rs2507555321
NM_000080.4(CHRNE):c.602-4G>A rs761086547
NM_000080.4(CHRNE):c.602-4_602-3delinsTT rs1597619689
NM_000080.4(CHRNE):c.602-5C>T rs764599384
NM_000080.4(CHRNE):c.602-6C>T rs762103017
NM_000080.4(CHRNE):c.602-7C>T rs1298446963
NM_000080.4(CHRNE):c.602-8_602-7insGA rs2507555364
NM_000080.4(CHRNE):c.602-9G>T rs1382185555
NM_000080.4(CHRNE):c.602-9dup
NM_000080.4(CHRNE):c.606_619del (p.Gly203fs) rs1969973509
NM_000080.4(CHRNE):c.609C>A (p.Gly203=) rs912870458
NM_000080.4(CHRNE):c.609C>G (p.Gly203=) rs912870458
NM_000080.4(CHRNE):c.609C>T (p.Gly203=) rs912870458
NM_000080.4(CHRNE):c.60G>A (p.Gly20=) rs2151098969
NM_000080.4(CHRNE):c.612G>A (p.Glu204=) rs2507555242
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) rs753828284
NM_000080.4(CHRNE):c.617_635del (p.Ala206fs) rs1969972830
NM_000080.4(CHRNE):c.619A>G (p.Ile207Val) rs1422386099
NM_000080.4(CHRNE):c.621C>A (p.Ile207=) rs2151097478
NM_000080.4(CHRNE):c.621C>T (p.Ile207=) rs2151097478
NM_000080.4(CHRNE):c.627C>G (p.Phe209Leu) rs1168685337
NM_000080.4(CHRNE):c.628T>C (p.Cys210Arg) rs2151097468
NM_000080.4(CHRNE):c.629G>A (p.Cys210Tyr)
NM_000080.4(CHRNE):c.62A>G (p.Lys21Arg) rs1970033266
NM_000080.4(CHRNE):c.630C>T (p.Cys210=) rs2507555139
NM_000080.4(CHRNE):c.639G>A (p.Val213=) rs1969972651
NM_000080.4(CHRNE):c.63G>A (p.Lys21=) rs2151098964
NM_000080.4(CHRNE):c.644GCC[3] (p.Arg216_His217insArg) rs764709459
NM_000080.4(CHRNE):c.645C>T (p.Arg215=) rs2151097437
NM_000080.4(CHRNE):c.647_653dup (p.His218fs) rs2151097420
NM_000080.4(CHRNE):c.648C>T (p.Arg216=) rs2151097429
NM_000080.4(CHRNE):c.653_666dup (p.Asp223fs) rs2507554908
NM_000080.4(CHRNE):c.654C>T (p.His218=) rs751388919
NM_000080.4(CHRNE):c.657T>A (p.Gly219=) rs1969971346
NM_000080.4(CHRNE):c.659G>C (p.Gly220Ala)
NM_000080.4(CHRNE):c.660C>A (p.Gly220=) rs1969971072
NM_000080.4(CHRNE):c.660C>T (p.Gly220=) rs1969971072
NM_000080.4(CHRNE):c.661G>A (p.Ala221Thr) rs757240025
NM_000080.4(CHRNE):c.666C>G (p.Thr222=) rs1224426288
NM_000080.4(CHRNE):c.666C>T (p.Thr222=) rs1224426288
NM_000080.4(CHRNE):c.672C>A (p.Gly224=) rs2151097392
NM_000080.4(CHRNE):c.672C>T (p.Gly224=)
NM_000080.4(CHRNE):c.675A>G (p.Pro225=) rs1427646615
NM_000080.4(CHRNE):c.678G>A (p.Gly226=) rs1431059369
NM_000080.4(CHRNE):c.67G>T (p.Glu23Ter) rs866487633
NM_000080.4(CHRNE):c.682A>G (p.Thr228Ala) rs1252881821
NM_000080.4(CHRNE):c.684_687del (p.Asp229fs) rs1597619440
NM_000080.4(CHRNE):c.686A>T (p.Asp229Val) rs1197107763
NM_000080.4(CHRNE):c.687C>T (p.Asp229=) rs1479728021
NM_000080.4(CHRNE):c.690C>A (p.Val230=) rs1597619417
NM_000080.4(CHRNE):c.690C>T (p.Val230=) rs1597619417
NM_000080.4(CHRNE):c.694T>C (p.Tyr232His) rs2151097342
NM_000080.4(CHRNE):c.695_697del (p.Tyr232del) rs1969969385
NM_000080.4(CHRNE):c.696C>T (p.Tyr232=) rs1284899632
NM_000080.4(CHRNE):c.699G>C (p.Ser233=) rs375146171
NM_000080.4(CHRNE):c.702C>A (p.Leu234=) rs1344473749
NM_000080.4(CHRNE):c.705C>A (p.Ile235=) rs748765369
NM_000080.4(CHRNE):c.705C>T (p.Ile235=) rs748765369
NM_000080.4(CHRNE):c.710G>A (p.Arg237His) rs201434993
NM_000080.4(CHRNE):c.712C>T (p.Arg238Trp) rs1567638676
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln) rs2151097307
NM_000080.4(CHRNE):c.714G>A (p.Arg238=) rs768299579
NM_000080.4(CHRNE):c.717G>A (p.Lys239=) rs2507554504
NM_000080.4(CHRNE):c.720G>A (p.Pro240=) rs1049141147
NM_000080.4(CHRNE):c.721C>T (p.Leu241Phe) rs28999110
NM_000080.4(CHRNE):c.725T>G (p.Phe242Cys) rs1969968160
NM_000080.4(CHRNE):c.729C>T (p.Tyr243=) rs1201122005
NM_000080.4(CHRNE):c.738C>T (p.Asn246=) rs2151097269
NM_000080.4(CHRNE):c.739ATC[1] (p.Ile248del) rs2507554385
NM_000080.4(CHRNE):c.741C>T (p.Ile247=) rs1969967603
NM_000080.4(CHRNE):c.742A>C (p.Ile248Leu) rs2507554395
NM_000080.4(CHRNE):c.744C>G (p.Ile248Met) rs1288770447
NM_000080.4(CHRNE):c.744C>T (p.Ile248=) rs1288770447
NM_000080.4(CHRNE):c.747G>C (p.Val249=) rs2507554353
NM_000080.4(CHRNE):c.750_751del (p.Val252fs) rs2507554331
NM_000080.4(CHRNE):c.751T>A (p.Cys251Ser) rs867237170
NM_000080.4(CHRNE):c.759C>A (p.Leu253=) rs1969966911
NM_000080.4(CHRNE):c.75G>A (p.Leu25=) rs2151098953
NM_000080.4(CHRNE):c.764C>G (p.Ser255Trp) rs1555546765
NM_000080.4(CHRNE):c.764C>T (p.Ser255Leu) rs1555546765
NM_000080.4(CHRNE):c.765G>A (p.Ser255=) rs767945817
NM_000080.4(CHRNE):c.765G>C (p.Ser255=) rs767945817
NM_000080.4(CHRNE):c.771G>C (p.Leu257=) rs2507554218
NM_000080.4(CHRNE):c.775C>T (p.Leu259=) rs2151097232
NM_000080.4(CHRNE):c.778C>T (p.Leu260Phe) rs1567638591
NM_000080.4(CHRNE):c.77G>A (p.Arg26His) rs188661284
NM_000080.4(CHRNE):c.780C>A (p.Leu260=) rs766792066
NM_000080.4(CHRNE):c.780C>G (p.Leu260=)
NM_000080.4(CHRNE):c.783C>T (p.Ala261=) rs772723622
NM_000080.4(CHRNE):c.786C>T (p.Tyr262=) rs2151097217
NM_000080.4(CHRNE):c.789C>T (p.Phe263=) rs761487611
NM_000080.4(CHRNE):c.790C>T (p.Leu264=) rs2507554120
NM_000080.4(CHRNE):c.790del (p.Leu264fs) rs1387784932
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu) rs759226183
NM_000080.4(CHRNE):c.794del (p.Pro265fs) rs756675414
NM_000080.4(CHRNE):c.798G>A (p.Ala266=) rs746772722
NM_000080.4(CHRNE):c.798G>C (p.Ala266=) rs746772722
NM_000080.4(CHRNE):c.798G>T (p.Ala266=) rs746772722
NM_000080.4(CHRNE):c.802+10G>A rs2151097179
NM_000080.4(CHRNE):c.802+12C>T rs2507554015
NM_000080.4(CHRNE):c.802+13C>T
NM_000080.4(CHRNE):c.802+15C>G rs374113313
NM_000080.4(CHRNE):c.802+15C>T
NM_000080.4(CHRNE):c.802+17A>C
NM_000080.4(CHRNE):c.802+18A>C rs755437862
NM_000080.4(CHRNE):c.802+1G>A rs2507554064
NM_000080.4(CHRNE):c.802+2T>A rs2151097188
NM_000080.4(CHRNE):c.802+2T>C rs2151097188
NM_000080.4(CHRNE):c.802+9T>G rs199876621
NM_000080.4(CHRNE):c.802G>C (p.Ala268Pro) rs772145808
NM_000080.4(CHRNE):c.803-10C>T rs1326169288
NM_000080.4(CHRNE):c.803-12C>G rs1387037893
NM_000080.4(CHRNE):c.803-12C>T rs1387037893
NM_000080.4(CHRNE):c.803-12del rs2507553680
NM_000080.4(CHRNE):c.803-14_803-5dup rs767922649
NM_000080.4(CHRNE):c.803-15T>C rs2507553691
NM_000080.4(CHRNE):c.803-16C>A rs768177094
NM_000080.4(CHRNE):c.803-17_803-8dup rs1969961616
NM_000080.4(CHRNE):c.803-1G>T rs2507553591
NM_000080.4(CHRNE):c.807C>T (p.Gly269=) rs1021297889
NM_000080.4(CHRNE):c.808G>A (p.Gly270Ser) rs1447784617
NM_000080.4(CHRNE):c.811C>T (p.Gln271Ter) rs2507553534
NM_000080.4(CHRNE):c.816A>G (p.Lys272=) rs2507553511
NM_000080.4(CHRNE):c.822G>A (p.Thr274=) rs781536510
NM_000080.4(CHRNE):c.825C>A (p.Val275=) rs2151097085
NM_000080.4(CHRNE):c.828C>T (p.Ser276=) rs1969960127
NM_000080.4(CHRNE):c.829A>G (p.Ile277Val) rs2151097080
NM_000080.4(CHRNE):c.829dup (p.Ile277fs) rs2151097082
NM_000080.4(CHRNE):c.832A>T (p.Asn278Tyr) rs1284578156
NM_000080.4(CHRNE):c.835G>T (p.Val279Phe) rs1597618854
NM_000080.4(CHRNE):c.838C>T (p.Leu280=) rs900612569
NM_000080.4(CHRNE):c.846C>T (p.Ala282=) rs780429979
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter) rs773929089
NM_000080.4(CHRNE):c.848_852dup (p.Val285fs) rs1567638401
NM_000080.4(CHRNE):c.850A>C (p.Thr284Pro) rs121909510
NM_000080.4(CHRNE):c.851C>T (p.Thr284Ile) rs1040580878
NM_000080.4(CHRNE):c.851_852delinsAG (p.Thr284Lys) rs2507553283
NM_000080.4(CHRNE):c.852del (p.Val285fs) rs2507553289
NM_000080.4(CHRNE):c.858C>T (p.Phe286=) rs1597618773
NM_000080.4(CHRNE):c.864C>T (p.Phe288=) rs1282925982
NM_000080.4(CHRNE):c.865C>G (p.Leu289Val) rs121909511
NM_000080.4(CHRNE):c.865C>T (p.Leu289Phe) rs121909511
NM_000080.4(CHRNE):c.867C>T (p.Leu289=) rs763590279
NM_000080.4(CHRNE):c.870T>C (p.Ile290=) rs775157123
NM_000080.4(CHRNE):c.874C>T (p.Gln292Ter) rs2507553112
NM_000080.4(CHRNE):c.87C>T (p.His29=) rs1567640279
NM_000080.4(CHRNE):c.883C>G (p.Pro295Ala) rs61735425
NM_000080.4(CHRNE):c.885A>G (p.Pro295=) rs1597618703
NM_000080.4(CHRNE):c.890C>T (p.Thr297Ile) rs770980262
NM_000080.4(CHRNE):c.891T>G (p.Thr297=) rs1969956471
NM_000080.4(CHRNE):c.894T>G (p.Ser298=) rs2151097016
NM_000080.4(CHRNE):c.895C>T (p.Leu299=) rs2151097014
NM_000080.4(CHRNE):c.897G>A (p.Leu299=) rs2151097007
NM_000080.4(CHRNE):c.899G>C (p.Ser300Thr) rs776585678
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000080.4(CHRNE):c.905C>T (p.Pro302Leu) rs370019023
NM_000080.4(CHRNE):c.906G>T (p.Pro302=) rs374156332
NM_000080.4(CHRNE):c.909C>G (p.Leu303=) rs2507552901
NM_000080.4(CHRNE):c.913G>T (p.Gly305Cys)
NM_000080.4(CHRNE):c.915C>A (p.Gly305=) rs992228063
NM_000080.4(CHRNE):c.917+13C>A
NM_000080.4(CHRNE):c.917+13C>T rs2507552790
NM_000080.4(CHRNE):c.917+15C>T rs12942540
NM_000080.4(CHRNE):c.917+16C>T rs1969954771
NM_000080.4(CHRNE):c.917+17C>G rs752447974
NM_000080.4(CHRNE):c.917+17dup rs772869952
NM_000080.4(CHRNE):c.917+18G>A rs2507552720
NM_000080.4(CHRNE):c.917+19C>A rs2507552715
NM_000080.4(CHRNE):c.917+20G>A rs1184080211
NM_000080.4(CHRNE):c.917+7C>A rs961101973
NM_000080.4(CHRNE):c.917+8C>T rs1337368697
NM_000080.4(CHRNE):c.917+9G>A rs754325287
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met) rs2151096983
NM_000080.4(CHRNE):c.918-13C>T rs2507544358
NM_000080.4(CHRNE):c.918-14T>G rs375376258
NM_000080.4(CHRNE):c.918-17C>A rs771664527
NM_000080.4(CHRNE):c.918-19T>C rs775834271
NM_000080.4(CHRNE):c.918-1G>A rs1407243713
NM_000080.4(CHRNE):c.918-5C>T rs1386033276
NM_000080.4(CHRNE):c.918-6C>T rs141408756
NM_000080.4(CHRNE):c.918-8C>G rs1597615600
NM_000080.4(CHRNE):c.918-8C>T rs1597615600
NM_000080.4(CHRNE):c.918-9G>A rs2151095352
NM_000080.4(CHRNE):c.918G>T (p.Arg306Ser) rs1453842961
NM_000080.4(CHRNE):c.924T>G (p.Leu308=) rs2507544199
NM_000080.4(CHRNE):c.933C>G (p.Val311=) rs2507544146
NM_000080.4(CHRNE):c.948G>C (p.Thr316=) rs144207552
NM_000080.4(CHRNE):c.948G>T (p.Thr316=) rs144207552
NM_000080.4(CHRNE):c.949C>G (p.Leu317Val) rs1597615485
NM_000080.4(CHRNE):c.951C>G (p.Leu317=) rs757563966
NM_000080.4(CHRNE):c.951_954del (p.Ile318fs) rs2507544005
NM_000080.4(CHRNE):c.957C>A (p.Val319=) rs1244564448
NM_000080.4(CHRNE):c.957C>T (p.Val319=) rs1244564448
NM_000080.4(CHRNE):c.960G>A (p.Met320Ile) rs1327225681
NM_000080.4(CHRNE):c.966C>A (p.Cys322Ter) rs56377005
NM_000080.4(CHRNE):c.966C>T (p.Cys322=) rs56377005
NM_000080.4(CHRNE):c.969C>T (p.Val323=) rs532669011
NM_000080.4(CHRNE):c.975G>C (p.Val325=) rs1969881791
NM_000080.4(CHRNE):c.978C>T (p.Leu326=) rs1969881526
NM_000080.4(CHRNE):c.984G>A (p.Val328=) rs1969880796
NM_000080.4(CHRNE):c.984G>T (p.Val328=) rs1969880796
NM_000080.4(CHRNE):c.985_986del (p.Ser329fs) rs1969880683
NM_000080.4(CHRNE):c.988C>T (p.Gln330Ter) rs2507543742
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000080.4(CHRNE):c.994_1023dup (p.Arg341_Leu342insThrProThrThrHisAlaMetSerProArg) rs1356556214
NM_000080.4(CHRNE):c.996G>A (p.Thr332=) rs772819662
NM_000080.4(CHRNE):c.996G>C (p.Thr332=) rs772819662
NM_000080.4(CHRNE):c.996G>T (p.Thr332=) rs772819662
NM_000080.4(CHRNE):c.997C>T (p.Pro333Ser)
NM_000080.4(CHRNE):c.99C>T (p.Asn33=) rs2507563705
NM_001145536.2(C17orf107):c.*2082G>A

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