ClinVar Miner

List of variants studied for Hepatic veno-occlusive disease-immunodeficiency syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 428
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HGVS dbSNP gnomAD frequency
NM_080424.4(SP110):c.334T>C (p.Trp112Arg) rs1129411 0.91532
NM_080424.4(SP110):c.1274T>C (p.Leu425Ser) rs3948464 0.86768
NM_080424.4(SP110):c.895G>A (p.Gly299Arg) rs1365776 0.71538
NM_080424.4(SP110):c.668-21A>C rs3820974 0.48767
NM_080424.4(SP110):c.1568T>C (p.Met523Thr) rs1135791 0.39929
NM_080424.4(SP110):c.584-9C>T rs41309096 0.27398
NM_080424.4(SP110):c.617C>T (p.Ala206Val) rs28930679 0.20608
NM_080424.4(SP110):c.1274= (p.Leu425=) rs3948464 0.13232
NM_080424.4(SP110):c.1815+14A>G rs34034766 0.11238
NM_080424.4(SP110):c.1731C>T (p.Cys577=) rs13018234 0.10366
NM_080424.4(SP110):c.619G>A (p.Glu207Lys) rs9061 0.08779
NM_080424.4(SP110):c.334= (p.Trp112=) rs1129411 0.08468
NM_080424.4(SP110):c.1038G>C (p.Ser346=) rs7606916 0.07450
NM_080424.4(SP110):c.383C>T (p.Ala128Val) rs11556887 0.07082
NM_080424.4(SP110):c.1737G>A (p.Met579Ile) rs3948463 0.05302
NM_080424.4(SP110):c.1650T>C (p.Gly550=) rs35495464 0.05293
NM_080424.4(SP110):c.1100C>T (p.Thr367Met) rs59573011 0.01618
NM_080424.4(SP110):c.376G>A (p.Gly126Ser) rs41309088 0.01459
NM_080424.4(SP110):c.1447G>A (p.Gly483Arg) rs149485401 0.00856
NM_080424.4(SP110):c.1130-11A>G rs41547617 0.00503
NM_080424.4(SP110):c.1647C>T (p.Cys549=) rs116626378 0.00462
NM_080424.4(SP110):c.1464C>T (p.Cys488=) rs147355697 0.00399
NM_080424.4(SP110):c.583+8A>G rs114743173 0.00224
NM_080424.4(SP110):c.584-10C>G rs148591984 0.00188
NM_080424.4(SP110):c.522C>T (p.Pro174=) rs144428054 0.00137
NM_080424.4(SP110):c.1706+20G>A rs192671550 0.00129
NM_080424.4(SP110):c.978T>G (p.Thr326=) rs145246759 0.00109
NM_080424.4(SP110):c.1413G>A (p.Ala471=) rs147519012 0.00085
NM_080424.4(SP110):c.1706+4A>T rs201034113 0.00073
NM_080424.4(SP110):c.1591-9C>T rs202101309 0.00058
NM_080424.4(SP110):c.542T>G (p.Leu181Arg) rs77642505 0.00058
NM_080424.4(SP110):c.451C>T (p.Pro151Ser) rs146515106 0.00053
NM_080424.4(SP110):c.328T>C (p.Tyr110His) rs200651686 0.00049
NM_080424.4(SP110):c.1200C>T (p.Asp400=) rs115361843 0.00047
NM_080424.4(SP110):c.2006G>A (p.Arg669His) rs115347862 0.00044
NM_080424.4(SP110):c.745A>G (p.Met249Val) rs3769838 0.00036
NM_080424.4(SP110):c.1612G>A (p.Glu538Lys) rs149682257 0.00031
NM_080424.4(SP110):c.1315A>G (p.Lys439Glu) rs145154247 0.00029
NM_080424.4(SP110):c.2122G>C (p.Gly708Arg) rs181058279 0.00029
NM_080424.4(SP110):c.459G>A (p.Ala153=) rs201957445 0.00029
NM_080424.4(SP110):c.2120G>A (p.Gly707Asp) rs115052010 0.00027
NM_080424.4(SP110):c.-85T>C rs199943005 0.00023
NM_080424.4(SP110):c.1324T>C (p.Phe442Leu) rs115380913 0.00020
NM_080424.4(SP110):c.1956G>A (p.Thr652=) rs115116751 0.00016
NM_080424.4(SP110):c.1968G>A (p.Thr656=) rs149050898 0.00015
NM_080424.4(SP110):c.2112C>T (p.Ala704=) rs144066858 0.00015
NM_080424.4(SP110):c.147+17C>A rs200699664 0.00014
NM_080424.4(SP110):c.1591C>T (p.Arg531Trp) rs200099412 0.00013
NM_080424.4(SP110):c.1974A>G (p.Ala658=) rs200463093 0.00012
NM_080424.4(SP110):c.339G>A (p.Gln113=) rs148356804 0.00012
NM_080424.4(SP110):c.75T>C (p.Tyr25=) rs41309082 0.00012
NM_080424.4(SP110):c.431C>A (p.Pro144His) rs151199258 0.00011
NM_080424.4(SP110):c.898+14A>G rs200753717 0.00011
NM_080424.4(SP110):c.1262G>A (p.Arg421Gln) rs140588937 0.00010
NM_080424.4(SP110):c.1591-18C>T rs199943105 0.00010
NM_080424.4(SP110):c.335G>A (p.Trp112Ter) rs757092766 0.00010
NM_080424.4(SP110):c.351A>G (p.Thr117=) rs115460481 0.00009
NM_080424.4(SP110):c.1170A>G (p.Gln390=) rs140086984 0.00008
NM_080424.4(SP110):c.1343G>A (p.Arg448Gln) rs201853984 0.00008
NM_080424.4(SP110):c.69C>T (p.Ile23=) rs200563150 0.00008
NM_080424.4(SP110):c.237T>G (p.Ser79=) rs202135641 0.00007
NM_080424.4(SP110):c.842A>G (p.Lys281Arg) rs187168146 0.00007
NM_080424.4(SP110):c.1395C>T (p.Pro465=) rs767345511 0.00006
NM_080424.4(SP110):c.1590+13C>T rs144063651 0.00006
NM_080424.4(SP110):c.1985G>A (p.Arg662Gln) rs200397055 0.00006
NM_080424.4(SP110):c.293C>T (p.Thr98Met) rs755163914 0.00006
NM_080424.4(SP110):c.370C>T (p.Pro124Ser) rs1158665994 0.00006
NM_080424.4(SP110):c.519G>A (p.Ser173=) rs114550400 0.00006
NM_080424.4(SP110):c.544C>T (p.Pro182Ser) rs199978387 0.00006
NM_080424.4(SP110):c.981T>C (p.Cys327=) rs202198335 0.00006
NM_080424.4(SP110):c.1115G>A (p.Arg372Gln) rs201394862 0.00005
NM_080424.4(SP110):c.1379A>C (p.His460Pro) rs772667418 0.00005
NM_080424.4(SP110):c.144C>T (p.Tyr48=) rs201435337 0.00005
NM_080424.4(SP110):c.86A>T (p.Lys29Met) rs756746930 0.00005
NM_080424.4(SP110):c.1480G>A (p.Gly494Arg) rs777078204 0.00004
NM_080424.4(SP110):c.1512C>T (p.Val504=) rs547650308 0.00004
NM_080424.4(SP110):c.1531G>A (p.Ala511Thr) rs745817983 0.00004
NM_080424.4(SP110):c.1706+19C>T rs200267588 0.00004
NM_080424.4(SP110):c.1757A>G (p.Gln586Arg) rs757053890 0.00004
NM_080424.4(SP110):c.1899C>T (p.Tyr633=) rs114352205 0.00004
NM_080424.4(SP110):c.2054T>C (p.Leu685Pro) rs114501363 0.00004
NM_080424.4(SP110):c.2138C>G (p.Pro713Arg) rs200225863 0.00004
NM_080424.4(SP110):c.23T>C (p.Met8Thr) rs200067258 0.00004
NM_080424.4(SP110):c.618G>A (p.Ala206=) rs372578277 0.00004
NM_080424.4(SP110):c.751+9G>T rs201731985 0.00004
NM_080424.4(SP110):c.929A>C (p.Lys310Thr) rs200591551 0.00004
NM_080424.4(SP110):c.*204A>T rs76598053 0.00003
NM_080424.4(SP110):c.126C>T (p.Ile42=) rs139246977 0.00003
NM_080424.4(SP110):c.1362dup (p.Asp455Ter) rs754452211 0.00003
NM_080424.4(SP110):c.1427A>G (p.Tyr476Cys) rs148808440 0.00003
NM_080424.4(SP110):c.1984C>T (p.Arg662Ter) rs201059449 0.00003
NM_080424.4(SP110):c.2086A>G (p.Lys696Glu) rs370130521 0.00003
NM_080424.4(SP110):c.2098G>A (p.Gly700Ser) rs141900135 0.00003
NM_080424.4(SP110):c.414G>A (p.Ala138=) rs570329901 0.00003
NM_080424.4(SP110):c.780T>C (p.Asn260=) rs368772645 0.00003
NM_080424.4(SP110):c.952G>C (p.Val318Leu) rs201742692 0.00003
NM_080424.4(SP110):c.1101G>A (p.Thr367=) rs200621430 0.00002
NM_080424.4(SP110):c.1254A>G (p.Lys418=) rs201494565 0.00002
NM_080424.4(SP110):c.1301T>C (p.Ile434Thr) rs140716014 0.00002
NM_080424.4(SP110):c.1342C>T (p.Arg448Ter) rs199844454 0.00002
NM_080424.4(SP110):c.1547G>A (p.Arg516Gln) rs763875680 0.00002
NM_080424.4(SP110):c.1939A>G (p.Lys647Glu) rs752004065 0.00002
NM_080424.4(SP110):c.1988A>C (p.Asp663Ala) rs780195098 0.00002
NM_080424.4(SP110):c.2118C>T (p.Asp706=) rs115945163 0.00002
NM_080424.4(SP110):c.317T>C (p.Val106Ala) rs768821081 0.00002
NM_080424.4(SP110):c.386A>G (p.Glu129Gly) rs140974206 0.00002
NM_080424.4(SP110):c.413C>T (p.Ala138Val) rs114017623 0.00002
NM_080424.4(SP110):c.417G>A (p.Leu139=) rs769837823 0.00002
NM_080424.4(SP110):c.686dup (p.Gln231fs) rs763364899 0.00002
NM_080424.4(SP110):c.899-3C>T rs200606484 0.00002
NM_080424.4(SP110):c.934C>G (p.Leu312Val) rs1056828943 0.00002
NM_080424.4(SP110):c.938A>G (p.Lys313Arg) rs1317519602 0.00002
NM_080424.4(SP110):c.989C>T (p.Thr330Met) rs141019373 0.00002
NM_080424.4(SP110):c.*203A>T rs79681285 0.00001
NM_080424.4(SP110):c.1019C>T (p.Thr340Ile) rs752428563 0.00001
NM_080424.4(SP110):c.1031G>A (p.Arg344Gln) rs144163010 0.00001
NM_080424.4(SP110):c.1048+16G>C rs1202943206 0.00001
NM_080424.4(SP110):c.1056T>C (p.Ile352=) rs749437023 0.00001
NM_080424.4(SP110):c.1067C>T (p.Ser356Leu) rs775810248 0.00001
NM_080424.4(SP110):c.1092C>T (p.Ser364=) rs777870124 0.00001
NM_080424.4(SP110):c.1201G>A (p.Asp401Asn) rs761627243 0.00001
NM_080424.4(SP110):c.1219G>C (p.Glu407Gln) rs201353625 0.00001
NM_080424.4(SP110):c.1256G>A (p.Cys419Tyr) rs200721134 0.00001
NM_080424.4(SP110):c.1286A>G (p.Lys429Arg) rs751347896 0.00001
NM_080424.4(SP110):c.1319G>A (p.Arg440Lys) rs201014289 0.00001
NM_080424.4(SP110):c.1348+20C>T rs200872139 0.00001
NM_080424.4(SP110):c.1373A>T (p.Asp458Val) rs754679838 0.00001
NM_080424.4(SP110):c.1396G>A (p.Val466Met) rs900500193 0.00001
NM_080424.4(SP110):c.1448-6T>G rs201866278 0.00001
NM_080424.4(SP110):c.1448-8T>C rs1454379529 0.00001
NM_080424.4(SP110):c.1448G>A (p.Gly483Glu) rs534248634 0.00001
NM_080424.4(SP110):c.1469G>A (p.Arg490Gln) rs760017935 0.00001
NM_080424.4(SP110):c.1590+10T>A rs199856620 0.00001
NM_080424.4(SP110):c.1591-4G>A rs773822608 0.00001
NM_080424.4(SP110):c.1591-6T>G rs200317062 0.00001
NM_080424.4(SP110):c.1601C>T (p.Ser534Leu) rs547427992 0.00001
NM_080424.4(SP110):c.1639C>G (p.Leu547Val) rs376116343 0.00001
NM_080424.4(SP110):c.1649G>A (p.Gly550Asp) rs761714428 0.00001
NM_080424.4(SP110):c.1661G>A (p.Arg554Gln) rs199745658 0.00001
NM_080424.4(SP110):c.1707-9A>G rs1408172912 0.00001
NM_080424.4(SP110):c.1708A>G (p.Met570Val) rs547677489 0.00001
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter) rs1011767398 0.00001
NM_080424.4(SP110):c.189A>G (p.Arg63=) rs1335621440 0.00001
NM_080424.4(SP110):c.1900G>A (p.Gly634Ser) rs200027337 0.00001
NM_080424.4(SP110):c.1905G>C (p.Glu635Asp) rs199635684 0.00001
NM_080424.4(SP110):c.1928T>G (p.Leu643Trp) rs199752332 0.00001
NM_080424.4(SP110):c.1955C>T (p.Thr652Met) rs372023963 0.00001
NM_080424.4(SP110):c.196C>T (p.His66Tyr) rs370656079 0.00001
NM_080424.4(SP110):c.2061A>G (p.Leu687=) rs756202587 0.00001
NM_080424.4(SP110):c.2091C>T (p.Asp697=) rs201752781 0.00001
NM_080424.4(SP110):c.2092G>A (p.Val698Met) rs765155471 0.00001
NM_080424.4(SP110):c.2135T>G (p.Leu712Arg) rs757369735 0.00001
NM_080424.4(SP110):c.231C>T (p.Asn77=) rs754278979 0.00001
NM_080424.4(SP110):c.261A>G (p.Gln87=) rs1311849128 0.00001
NM_080424.4(SP110):c.294G>A (p.Thr98=) rs199925122 0.00001
NM_080424.4(SP110):c.317-9C>T rs369737388 0.00001
NM_080424.4(SP110):c.338A>G (p.Gln113Arg) rs577324370 0.00001
NM_080424.4(SP110):c.342C>A (p.Ser114Arg) rs1559178549 0.00001
NM_080424.4(SP110):c.407C>T (p.Pro136Leu) rs768753285 0.00001
NM_080424.4(SP110):c.463A>G (p.Arg155Gly) rs1441620017 0.00001
NM_080424.4(SP110):c.498C>T (p.Ser166=) rs763110758 0.00001
NM_080424.4(SP110):c.518C>T (p.Ser173Leu) rs41552315 0.00001
NM_080424.4(SP110):c.550C>T (p.Pro184Ser) rs750052870 0.00001
NM_080424.4(SP110):c.579T>C (p.Thr193=) rs1228225343 0.00001
NM_080424.4(SP110):c.583+16C>T rs1385377290 0.00001
NM_080424.4(SP110):c.671C>G (p.Ala224Gly) rs754038132 0.00001
NM_080424.4(SP110):c.711C>T (p.Asp237=) rs1167489264 0.00001
NM_080424.4(SP110):c.740G>A (p.Gly247Asp) rs900156609 0.00001
NM_080424.4(SP110):c.751G>C (p.Glu251Gln) rs199507633 0.00001
NM_080424.4(SP110):c.826A>G (p.Lys276Glu) rs2044285386 0.00001
NM_080424.4(SP110):c.829+10G>A rs759280256 0.00001
NM_080424.4(SP110):c.877A>G (p.Lys293Glu) rs199845488 0.00001
NM_080424.4(SP110):c.900G>A (p.Gly300=) rs886055765 0.00001
NC_000002.11:g.(231037676_231042253)_(231042397_231042872)del
NC_000002.11:g.(?_231033820)_(231086456_?)del
NC_000002.11:g.(?_231033820)_(231086456_?)dup
NC_000002.11:g.(?_231033840)_(231081642_?)del
NC_000002.11:g.(?_231042234)_(231042416_?)del
NC_000002.11:g.(?_231048268)_(231086456_?)dup
NC_000002.12:g.(?_230176645)_(230177700_?)del
NM_080424.4(SP110):c.*158C>A rs2078358694
NM_080424.4(SP110):c.*205_*206A[4]TTAA[1] rs5839361
NM_080424.4(SP110):c.*206del rs1553839905
NM_080424.4(SP110):c.*82G>A rs371157716
NM_080424.4(SP110):c.1020_1043dup (p.Cys342_Glu349dup) rs769621341
NM_080424.4(SP110):c.1030C>T (p.Arg344Ter) rs199938221
NM_080424.4(SP110):c.1031G>C (p.Arg344Pro) rs144163010
NM_080424.4(SP110):c.1037C>T (p.Ser346Leu) rs1574675911
NM_080424.4(SP110):c.1038G>A (p.Ser346=) rs7606916
NM_080424.4(SP110):c.1048+9G>A
NM_080424.4(SP110):c.1049-16A>T
NM_080424.4(SP110):c.1049-8T>C
NM_080424.4(SP110):c.1052T>C (p.Ile351Thr)
NM_080424.4(SP110):c.1054A>G (p.Ile352Val) rs1014974380
NM_080424.4(SP110):c.1067C>A (p.Ser356Ter)
NM_080424.4(SP110):c.1090T>C (p.Ser364Pro)
NM_080424.4(SP110):c.1091_1092delinsAT (p.Ser364Tyr) rs1559162086
NM_080424.4(SP110):c.1102C>G (p.Pro368Ala) rs962546053
NM_080424.4(SP110):c.1106G>C (p.Ser369Thr) rs1353393264
NM_080424.4(SP110):c.1114C>T (p.Arg372Ter) rs199713399
NM_080424.4(SP110):c.1116_1119del (p.Arg373fs) rs2148850717
NM_080424.4(SP110):c.1126C>G (p.Gln376Glu)
NM_080424.4(SP110):c.1129+16T>C
NM_080424.4(SP110):c.1129+18C>A
NM_080424.4(SP110):c.1129+4A>G
NM_080424.4(SP110):c.1129+7C>T
NM_080424.4(SP110):c.1129+9T>G rs760607836
NM_080424.4(SP110):c.1130-10T>C
NM_080424.4(SP110):c.1130-12T>C
NM_080424.4(SP110):c.1130-16A>G rs2148751501
NM_080424.4(SP110):c.1130-1G>C
NM_080424.4(SP110):c.1137C>T (p.Ala379=) rs2148751311
NM_080424.4(SP110):c.1173G>A (p.Val391=) rs886055764
NM_080424.4(SP110):c.1179T>G (p.Asp393Glu)
NM_080424.4(SP110):c.1195A>C (p.Lys399Gln)
NM_080424.4(SP110):c.1225A>G (p.Met409Val) rs150627628
NM_080424.4(SP110):c.1225A>T (p.Met409Leu)
NM_080424.4(SP110):c.1226T>G (p.Met409Arg) rs369778669
NM_080424.4(SP110):c.1227G>A (p.Met409Ile) rs201972538
NM_080424.4(SP110):c.1261C>T (p.Arg421Ter) rs927135298
NM_080424.4(SP110):c.127A>G (p.Ile43Val) rs886055766
NM_080424.4(SP110):c.1280-10C>G rs201596009
NM_080424.4(SP110):c.1283A>G (p.Lys428Arg)
NM_080424.4(SP110):c.1298A>G (p.Asp433Gly) rs1157982871
NM_080424.4(SP110):c.1311C>A (p.Ser437Arg) rs199802117
NM_080424.4(SP110):c.1339C>G (p.His447Asp)
NM_080424.4(SP110):c.1340A>G (p.His447Arg)
NM_080424.4(SP110):c.1341C>T (p.His447=)
NM_080424.4(SP110):c.1348+9G>A rs758205605
NM_080424.4(SP110):c.1349-18G>T
NM_080424.4(SP110):c.1349-19T>C rs1574607023
NM_080424.4(SP110):c.1349-2A>T
NM_080424.4(SP110):c.1349G>A (p.Gly450Glu) rs200662686
NM_080424.4(SP110):c.1353A>T (p.Lys451Asn)
NM_080424.4(SP110):c.138A>G (p.Arg46=)
NM_080424.4(SP110):c.1395dup (p.Val466fs) rs1560530550
NM_080424.4(SP110):c.1400C>A (p.Thr467Asn) rs1331348371
NM_080424.4(SP110):c.1408G>A (p.Glu470Lys)
NM_080424.4(SP110):c.1412C>T (p.Ala471Val) rs774900609
NM_080424.4(SP110):c.1421T>G (p.Ile474Ser) rs1393390517
NM_080424.4(SP110):c.1428_1429del (p.Tyr476_Lys477delinsTer) rs751020218
NM_080424.4(SP110):c.1447+13G>A rs1277504177
NM_080424.4(SP110):c.1448-13C>T
NM_080424.4(SP110):c.1468C>T (p.Arg490Trp)
NM_080424.4(SP110):c.147+9T>C rs2148952051
NM_080424.4(SP110):c.1478A>T (p.Asp493Val) rs2148714312
NM_080424.4(SP110):c.148-3T>C
NM_080424.4(SP110):c.1485T>G (p.Thr495=) rs891497587
NM_080424.4(SP110):c.1502A>G (p.Glu501Gly) rs2041925691
NM_080424.4(SP110):c.150A>G (p.Glu50=)
NM_080424.4(SP110):c.1514AAGGAA[1] (p.Lys507_Gly508del)
NM_080424.4(SP110):c.1530C>T (p.Asn510=)
NM_080424.4(SP110):c.1533A>G (p.Ala511=) rs2148714102
NM_080424.4(SP110):c.1553T>A (p.Ile518Lys) rs200056752
NM_080424.4(SP110):c.1553T>C (p.Ile518Thr)
NM_080424.4(SP110):c.1555C>T (p.Arg519Cys) rs765616523
NM_080424.4(SP110):c.1556G>A (p.Arg519His)
NM_080424.4(SP110):c.1580A>G (p.Glu527Gly)
NM_080424.4(SP110):c.1590+16G>C
NM_080424.4(SP110):c.1590+20G>C
NM_080424.4(SP110):c.1591-10G>C rs201856437
NM_080424.4(SP110):c.1602G>T (p.Ser534=) rs756439485
NM_080424.4(SP110):c.1611C>T (p.Cys537=)
NM_080424.4(SP110):c.1621T>G (p.Cys541Gly) rs2078487165
NM_080424.4(SP110):c.1627G>T (p.Gly543Trp)
NM_080424.4(SP110):c.1631dup (p.Gln545fs) rs2078486744
NM_080424.4(SP110):c.1645T>C (p.Cys549Arg)
NM_080424.4(SP110):c.1650_1651delinsCT (p.Thr551Ser) rs2106351365
NM_080424.4(SP110):c.1653T>C (p.Thr551=)
NM_080424.4(SP110):c.1660C>G (p.Arg554Gly)
NM_080424.4(SP110):c.1675G>A (p.Asp559Asn)
NM_080424.4(SP110):c.1691del (p.Pro564fs) rs1245290762
NM_080424.4(SP110):c.1701C>G (p.Ala567=) rs925484782
NM_080424.4(SP110):c.1706+11T>G
NM_080424.4(SP110):c.1706+17C>A
NM_080424.4(SP110):c.1706+20G>C rs192671550
NM_080424.4(SP110):c.1707-11C>T
NM_080424.4(SP110):c.1707-14G>T
NM_080424.4(SP110):c.1713G>A (p.Leu571=) rs2078461254
NM_080424.4(SP110):c.1733G>A (p.Arg578Lys) rs2106348583
NM_080424.4(SP110):c.1749A>C (p.Ser583=) rs1574590002
NM_080424.4(SP110):c.1751G>A (p.Gly584Glu)
NM_080424.4(SP110):c.1760A>G (p.Gln587Arg) rs2106348468
NM_080424.4(SP110):c.1766A>T (p.His589Leu) rs201886262
NM_080424.4(SP110):c.1766_1767del (p.His589fs)
NM_080424.4(SP110):c.1770T>C (p.His590=)
NM_080424.4(SP110):c.1775_1778del (p.Val591_Ser592insTer) rs2106348318
NM_080424.4(SP110):c.1782C>A (p.Thr594=) rs1474040043
NM_080424.4(SP110):c.1784T>G (p.Leu595Arg)
NM_080424.4(SP110):c.178C>A (p.Pro60Thr) rs2044957058
NM_080424.4(SP110):c.1794G>A (p.Gln598=)
NM_080424.4(SP110):c.1815+11T>A
NM_080424.4(SP110):c.1815+17C>T rs1353276974
NM_080424.4(SP110):c.1815+20C>G rs199946971
NM_080424.4(SP110):c.1815+20C>T rs199946971
NM_080424.4(SP110):c.1815+4A>T rs978837440
NM_080424.4(SP110):c.1815+5_1815+6del
NM_080424.4(SP110):c.185C>G (p.Ser62Cys) rs202029779
NM_080424.4(SP110):c.185C>T (p.Ser62Phe) rs202029779
NM_080424.4(SP110):c.186C>T (p.Ser62=)
NM_080424.4(SP110):c.1888-17G>A
NM_080424.4(SP110):c.1888-22CT[3]
NM_080424.4(SP110):c.1888-2A>G
NM_080424.4(SP110):c.1888-4del rs1367294713
NM_080424.4(SP110):c.1892G>C (p.Arg631Pro) rs143090622
NM_080424.4(SP110):c.1900G>C (p.Gly634Arg) rs200027337
NM_080424.4(SP110):c.1902T>C (p.Gly634=)
NM_080424.4(SP110):c.1933del (p.Leu645fs) rs2106343198
NM_080424.4(SP110):c.1959A>G (p.Glu653=)
NM_080424.4(SP110):c.1965C>T (p.Tyr655=)
NM_080424.4(SP110):c.1991T>C (p.Met664Thr) rs1302656922
NM_080424.4(SP110):c.1993C>A (p.Arg665Ser) rs201864810
NM_080424.4(SP110):c.2005C>T (p.Arg669Cys) rs200893271
NM_080424.4(SP110):c.2012A>G (p.His671Arg)
NM_080424.4(SP110):c.2014A>T (p.Lys672Ter) rs201966308
NM_080424.4(SP110):c.2026A>G (p.Lys676Glu)
NM_080424.4(SP110):c.2028+1G>A rs2106342777
NM_080424.4(SP110):c.2029-18T>G rs2106338359
NM_080424.4(SP110):c.2029-7_2029-6del rs773164340
NM_080424.4(SP110):c.2038T>C (p.Phe680Leu) rs1371302119
NM_080424.4(SP110):c.2041G>C (p.Gly681Arg)
NM_080424.4(SP110):c.2059T>G (p.Leu687Val)
NM_080424.4(SP110):c.2072T>C (p.Phe691Ser)
NM_080424.4(SP110):c.2075A>G (p.Glu692Gly)
NM_080424.4(SP110):c.2079dup (p.Asp694fs) rs769672517
NM_080424.4(SP110):c.2097C>T (p.Leu699=)
NM_080424.4(SP110):c.2099G>A (p.Gly700Asp) rs2078364090
NM_080424.4(SP110):c.209C>T (p.Thr70Ile) rs2044953751
NM_080424.4(SP110):c.2100T>C (p.Gly700=) rs770898382
NM_080424.4(SP110):c.2106T>C (p.His702=)
NM_080424.4(SP110):c.2114A>G (p.Asn705Ser) rs147011203
NM_080424.4(SP110):c.2116G>A (p.Asp706Asn)
NM_080424.4(SP110):c.2119G>T (p.Gly707Cys) rs1423431073
NM_080424.4(SP110):c.2122G>A (p.Gly708Ser) rs181058279
NM_080424.4(SP110):c.2127C>G (p.Phe709Leu)
NM_080424.4(SP110):c.21C>T (p.Ala7=)
NM_080424.4(SP110):c.222G>A (p.Arg74=)
NM_080424.4(SP110):c.26A>G (p.Glu9Gly)
NM_080424.4(SP110):c.271C>A (p.Arg91Ser) rs201053153
NM_080424.4(SP110):c.271C>T (p.Arg91Cys) rs201053153
NM_080424.4(SP110):c.272G>A (p.Arg91His)
NM_080424.4(SP110):c.299del (p.Tyr100fs)
NM_080424.4(SP110):c.316+19T>C
NM_080424.4(SP110):c.316+6G>A rs201244482
NM_080424.4(SP110):c.316+8G>A
NM_080424.4(SP110):c.317-15C>A
NM_080424.4(SP110):c.317-16C>T
NM_080424.4(SP110):c.318T>G (p.Val106=)
NM_080424.4(SP110):c.319_325dup (p.Ser109fs) rs397515569
NM_080424.4(SP110):c.340A>G (p.Ser114Gly) rs2044663300
NM_080424.4(SP110):c.342_346del (p.Ser114fs) rs1559178521
NM_080424.4(SP110):c.348C>T (p.Asp116=)
NM_080424.4(SP110):c.357C>A (p.Ile119=)
NM_080424.4(SP110):c.362T>C (p.Leu121Pro) rs2148926939
NM_080424.4(SP110):c.373del (p.Thr125fs) rs397515570
NM_080424.4(SP110):c.374C>G (p.Thr125Ser)
NM_080424.4(SP110):c.401A>G (p.His134Arg) rs2044658221
NM_080424.4(SP110):c.404C>T (p.Thr135Ile)
NM_080424.4(SP110):c.40del (p.Gln14fs) rs397515362
NM_080424.4(SP110):c.420C>T (p.Pro140=)
NM_080424.4(SP110):c.423A>G (p.Pro141=) rs371294585
NM_080424.4(SP110):c.42G>A (p.Gln14=)
NM_080424.4(SP110):c.432C>A (p.Pro144=)
NM_080424.4(SP110):c.436C>T (p.Gln146Ter) rs2148926458
NM_080424.4(SP110):c.441A>G (p.Pro147=)
NM_080424.4(SP110):c.459G>T (p.Ala153=)
NM_080424.4(SP110):c.463A>T (p.Arg155Ter)
NM_080424.4(SP110):c.470G>A (p.Ser157Asn)
NM_080424.4(SP110):c.470G>C (p.Ser157Thr)
NM_080424.4(SP110):c.473A>G (p.Glu158Gly)
NM_080424.4(SP110):c.500A>G (p.Asp167Gly)
NM_080424.4(SP110):c.507C>T (p.Ile169=)
NM_080424.4(SP110):c.513T>G (p.Ser171Arg) rs529350933
NM_080424.4(SP110):c.569G>T (p.Gly190Val) rs2044640933
NM_080424.4(SP110):c.583+19C>A rs199743792
NM_080424.4(SP110):c.583+3G>A
NM_080424.4(SP110):c.583+6A>G rs2148925559
NM_080424.4(SP110):c.584-18T>C
NM_080424.4(SP110):c.606C>A (p.Ser202=)
NM_080424.4(SP110):c.617C>A (p.Ala206Glu) rs28930679
NM_080424.4(SP110):c.635A>G (p.Glu212Gly) rs1047254
NM_080424.4(SP110):c.642del (p.Ser215fs) rs397515361
NM_080424.4(SP110):c.646C>G (p.Leu216Val)
NM_080424.4(SP110):c.660T>C (p.Thr220=) rs201655540
NM_080424.4(SP110):c.662T>C (p.Val221Ala)
NM_080424.4(SP110):c.665A>G (p.Gln222Arg)
NM_080424.4(SP110):c.667+14G>T
NM_080424.4(SP110):c.667+1dup rs397515571
NM_080424.4(SP110):c.668-16_668-15del
NM_080424.4(SP110):c.668-17T>A
NM_080424.4(SP110):c.669G>A (p.Val223=)
NM_080424.4(SP110):c.671C>T (p.Ala224Val)
NM_080424.4(SP110):c.674G>A (p.Ser225Asn) rs199743367
NM_080424.4(SP110):c.68T>C (p.Ile23Thr) rs2148952479
NM_080424.4(SP110):c.699del (p.Asp234fs) rs2148917380
NM_080424.4(SP110):c.718G>C (p.Glu240Gln) rs2044474258
NM_080424.4(SP110):c.719A>G (p.Glu240Gly)
NM_080424.4(SP110):c.725C>T (p.Pro242Leu) rs765229595
NM_080424.4(SP110):c.728A>G (p.His243Arg)
NM_080424.4(SP110):c.750_751delinsCC (p.Glu251Gln) rs2148917098
NM_080424.4(SP110):c.751+12_751+16del
NM_080424.4(SP110):c.751+16T>G
NM_080424.4(SP110):c.751+19A>G rs180811113
NM_080424.4(SP110):c.751+19A>T rs180811113
NM_080424.4(SP110):c.78_79delinsAT (p.Ile27Leu) rs397515572
NM_080424.4(SP110):c.802G>T (p.Val268Leu)
NM_080424.4(SP110):c.80dup (p.His28fs)
NM_080424.4(SP110):c.814C>A (p.Pro272Thr)
NM_080424.4(SP110):c.829+14T>C
NM_080424.4(SP110):c.829+15T>C rs372230531
NM_080424.4(SP110):c.82C>T (p.His28Tyr) rs865950609
NM_080424.4(SP110):c.830-12C>A
NM_080424.4(SP110):c.830-20del
NM_080424.4(SP110):c.832A>G (p.Lys278Glu)
NM_080424.4(SP110):c.848G>C (p.Cys283Ser) rs754775004
NM_080424.4(SP110):c.848G>T (p.Cys283Phe) rs754775004
NM_080424.4(SP110):c.867A>G (p.Lys289=)
NM_080424.4(SP110):c.877A>T (p.Lys293Ter) rs199845488
NM_080424.4(SP110):c.87G>C (p.Lys29Asn) rs2148952318
NM_080424.4(SP110):c.880A>G (p.Lys294Glu)
NM_080424.4(SP110):c.886del (p.Ser296fs)
NM_080424.4(SP110):c.898+19A>G
NM_080424.4(SP110):c.8C>T (p.Thr3Ile)
NM_080424.4(SP110):c.911C>T (p.Ser304Phe) rs2043304942
NM_080424.4(SP110):c.918C>T (p.His306=)
NM_080424.4(SP110):c.927A>G (p.Gln309=) rs2148861745
NM_080424.4(SP110):c.933G>C (p.Lys311Asn) rs2148861711
NM_080424.4(SP110):c.943del (p.Val315fs)

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