ClinVar Miner

List of variants in gene GEN1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 402
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HGVS dbSNP gnomAD frequency
NM_001130009.3(GEN1):c.749C>T (p.Pro250Leu) rs141482726 0.00064
NM_001130009.3(GEN1):c.1642C>A (p.Leu548Ile) rs371479875 0.00027
NM_001130009.3(GEN1):c.1897T>G (p.Ser633Ala) rs145621452 0.00025
NM_001130009.3(GEN1):c.2098A>G (p.Ile700Val) rs149815077 0.00025
NM_001130009.3(GEN1):c.277C>T (p.Arg93Trp) rs201492858 0.00021
NM_001130009.3(GEN1):c.2360G>A (p.Arg787Gln) rs369584932 0.00019
NM_001130009.3(GEN1):c.2381G>C (p.Ser794Thr) rs201939375 0.00019
NM_001130009.3(GEN1):c.824G>A (p.Arg275His) rs202239270 0.00019
NM_001130009.3(GEN1):c.2077G>A (p.Val693Ile) rs150533023 0.00016
NM_001130009.3(GEN1):c.1441C>T (p.Pro481Ser) rs374176559 0.00015
NM_001130009.3(GEN1):c.2686C>A (p.Pro896Thr) rs182439530 0.00015
NM_001130009.3(GEN1):c.142G>A (p.Val48Ile) rs202068919 0.00014
NM_001130009.3(GEN1):c.1081C>T (p.Leu361Phe) rs200275164 0.00009
NM_001130009.3(GEN1):c.2293A>T (p.Thr765Ser) rs557705019 0.00009
NM_001130009.3(GEN1):c.2697G>C (p.Gln899His) rs370541992 0.00009
NM_001130009.3(GEN1):c.2655C>A (p.Asn885Lys) rs190550780 0.00007
NM_001130009.3(GEN1):c.953+1G>A rs370143023 0.00007
NM_001130009.3(GEN1):c.1282G>A (p.Asp428Asn) rs769957878 0.00006
NM_001130009.3(GEN1):c.1136_1157del (p.Leu378_Leu379insTer) rs1171294579 0.00005
NM_001130009.3(GEN1):c.1771G>T (p.Glu591Ter) rs373974766 0.00005
NM_001130009.3(GEN1):c.1883T>C (p.Ile628Thr) rs766427481 0.00005
NM_001130009.3(GEN1):c.113C>G (p.Ala38Gly) rs1284918226 0.00004
NM_001130009.3(GEN1):c.1357G>A (p.Val453Ile) rs564386964 0.00004
NM_001130009.3(GEN1):c.1637C>G (p.Ser546Cys) rs373632814 0.00004
NM_001130009.3(GEN1):c.1837G>A (p.Glu613Lys) rs775197128 0.00004
NM_001130009.3(GEN1):c.2327A>G (p.Asp776Gly) rs369351063 0.00004
NM_001130009.3(GEN1):c.622G>A (p.Asp208Asn) rs747675661 0.00004
NM_001130009.3(GEN1):c.894T>G (p.Cys298Trp) rs371772153 0.00004
NM_001130009.3(GEN1):c.1277T>G (p.Met426Arg) rs1207556297 0.00003
NM_001130009.3(GEN1):c.1609T>C (p.Cys537Arg) rs765356309 0.00003
NM_001130009.3(GEN1):c.2348T>G (p.Met783Arg) rs1010441261 0.00003
NM_001130009.3(GEN1):c.2527C>T (p.Pro843Ser) rs183886409 0.00003
NM_001130009.3(GEN1):c.2615A>C (p.Lys872Thr) rs761499605 0.00003
NM_001130009.3(GEN1):c.532C>A (p.His178Asn) rs747865652 0.00003
NM_001130009.3(GEN1):c.625T>A (p.Tyr209Asn) rs769373840 0.00003
NM_001130009.3(GEN1):c.823C>T (p.Arg275Cys) rs146276503 0.00003
NM_001130009.3(GEN1):c.1108T>G (p.Tyr370Asp) rs201488023 0.00002
NM_001130009.3(GEN1):c.1195C>T (p.Pro399Ser) rs754533971 0.00002
NM_001130009.3(GEN1):c.1264+1G>T rs773532103 0.00002
NM_001130009.3(GEN1):c.1376A>C (p.Gln459Pro) rs763725122 0.00002
NM_001130009.3(GEN1):c.1408C>T (p.Arg470Cys) rs754490164 0.00002
NM_001130009.3(GEN1):c.1409-3C>T rs772522684 0.00002
NM_001130009.3(GEN1):c.1541A>C (p.Asp514Ala) rs1307891761 0.00002
NM_001130009.3(GEN1):c.176G>A (p.Arg59His) rs781254552 0.00002
NM_001130009.3(GEN1):c.2155C>A (p.Leu719Ile) rs780219575 0.00002
NM_001130009.3(GEN1):c.22C>A (p.Gln8Lys) rs755591349 0.00002
NM_001130009.3(GEN1):c.320G>T (p.Arg107Ile) rs1309351284 0.00002
NM_001130009.3(GEN1):c.452G>A (p.Cys151Tyr) rs750413085 0.00002
NM_001130009.3(GEN1):c.490C>T (p.Gln164Ter) rs368564254 0.00002
NM_001130009.3(GEN1):c.677T>C (p.Ile226Thr) rs143219130 0.00002
NM_001130009.3(GEN1):c.711-20A>G rs1342429630 0.00002
NM_001130009.3(GEN1):c.766A>G (p.Lys256Glu) rs767358462 0.00002
NM_001130009.3(GEN1):c.1103A>G (p.Asn368Ser) rs375343371 0.00001
NM_001130009.3(GEN1):c.1156G>A (p.Glu386Lys) rs1463546541 0.00001
NM_001130009.3(GEN1):c.118A>T (p.Thr40Ser) rs376881321 0.00001
NM_001130009.3(GEN1):c.1198A>G (p.Ile400Val) rs780793654 0.00001
NM_001130009.3(GEN1):c.1207G>C (p.Val403Leu) rs1204822002 0.00001
NM_001130009.3(GEN1):c.1252T>G (p.Trp418Gly) rs962142079 0.00001
NM_001130009.3(GEN1):c.1262C>G (p.Pro421Arg) rs769860486 0.00001
NM_001130009.3(GEN1):c.1264+6T>C rs923324567 0.00001
NM_001130009.3(GEN1):c.1268A>G (p.His423Arg) rs376696814 0.00001
NM_001130009.3(GEN1):c.1295G>A (p.Gly432Glu) rs777855155 0.00001
NM_001130009.3(GEN1):c.1360G>A (p.Ala454Thr) rs915439174 0.00001
NM_001130009.3(GEN1):c.1408+1G>A rs373017593 0.00001
NM_001130009.3(GEN1):c.1490G>A (p.Cys497Tyr) rs762838485 0.00001
NM_001130009.3(GEN1):c.1537C>T (p.Pro513Ser) rs769165697 0.00001
NM_001130009.3(GEN1):c.1539del (p.Asp514fs) rs1558412221 0.00001
NM_001130009.3(GEN1):c.1730T>C (p.Ile577Thr) rs1358965553 0.00001
NM_001130009.3(GEN1):c.175C>T (p.Arg59Cys) rs754845861 0.00001
NM_001130009.3(GEN1):c.1863C>G (p.Ile621Met) rs1411555527 0.00001
NM_001130009.3(GEN1):c.1955A>C (p.Asp652Ala) rs141313079 0.00001
NM_001130009.3(GEN1):c.1990A>G (p.Ile664Val) rs767832845 0.00001
NM_001130009.3(GEN1):c.2051A>G (p.Tyr684Cys) rs367927356 0.00001
NM_001130009.3(GEN1):c.2096C>G (p.Ser699Cys) rs535044227 0.00001
NM_001130009.3(GEN1):c.2101C>G (p.Leu701Val) rs1343397583 0.00001
NM_001130009.3(GEN1):c.2446A>G (p.Thr816Ala) rs1360872379 0.00001
NM_001130009.3(GEN1):c.2483A>G (p.Asn828Ser) rs763819025 0.00001
NM_001130009.3(GEN1):c.2515A>T (p.Lys839Ter) rs113873109 0.00001
NM_001130009.3(GEN1):c.2567C>A (p.Ser856Tyr) rs777965399 0.00001
NM_001130009.3(GEN1):c.262A>G (p.Lys88Glu) rs757959810 0.00001
NM_001130009.3(GEN1):c.263A>G (p.Lys88Arg) rs376517521 0.00001
NM_001130009.3(GEN1):c.2712A>T (p.Arg904Ser) rs772779339 0.00001
NM_001130009.3(GEN1):c.2727A>T (p.Ter909Cys) rs762802050 0.00001
NM_001130009.3(GEN1):c.299C>T (p.Ser100Leu) rs371047592 0.00001
NM_001130009.3(GEN1):c.308A>G (p.Gln103Arg) rs762245855 0.00001
NM_001130009.3(GEN1):c.314C>G (p.Thr105Arg) rs773795421 0.00001
NM_001130009.3(GEN1):c.364G>A (p.Glu122Lys) rs201084834 0.00001
NM_001130009.3(GEN1):c.515T>C (p.Met172Thr) rs1160372668 0.00001
NM_001130009.3(GEN1):c.523A>C (p.Lys175Gln) rs765060095 0.00001
NM_001130009.3(GEN1):c.58C>T (p.Arg20Cys) rs778434447 0.00001
NM_001130009.3(GEN1):c.656A>G (p.Lys219Arg) rs755646455 0.00001
NM_001130009.3(GEN1):c.803G>A (p.Gly268Asp) rs139945353 0.00001
NM_001130009.3(GEN1):c.857A>T (p.Tyr286Phe) rs1417665930 0.00001
NM_001130009.3(GEN1):c.875A>G (p.Tyr292Cys) rs149884551 0.00001
NM_001130009.3(GEN1):c.953+4A>G rs869312794 0.00001
NM_001130009.3(GEN1):c.953A>G (p.Lys318Arg) rs748788774 0.00001
NM_001130009.3(GEN1):c.974G>T (p.Gly325Val) rs773850838 0.00001
NM_001130009.3(GEN1):c.983T>A (p.Phe328Tyr) rs775024514 0.00001
NC_000002.11:g.(?_17941211)_(17959340_?)dup
NC_000002.11:g.(?_17961235)_(17963206_?)del
NC_000002.12:g.(?_17759944)_(17781939_?)dup
NM_001130009.3(GEN1):c.1006C>G (p.Leu336Val) rs2125149108
NM_001130009.3(GEN1):c.1030A>G (p.Lys344Glu)
NM_001130009.3(GEN1):c.1048dup (p.Arg350fs)
NM_001130009.3(GEN1):c.1049G>A (p.Arg350Lys) rs2125149259
NM_001130009.3(GEN1):c.1064del (p.Leu355fs)
NM_001130009.3(GEN1):c.1071+1G>T
NM_001130009.3(GEN1):c.1072-12T>C
NM_001130009.3(GEN1):c.1072-7_1072-2del
NM_001130009.3(GEN1):c.1074A>T (p.Arg358Ser)
NM_001130009.3(GEN1):c.1075T>C (p.Phe359Leu)
NM_001130009.3(GEN1):c.1082T>C (p.Leu361Pro)
NM_001130009.3(GEN1):c.1084G>A (p.Glu362Lys) rs2125151812
NM_001130009.3(GEN1):c.1090dup (p.Met364fs)
NM_001130009.3(GEN1):c.1096T>C (p.Trp366Arg) rs2125151847
NM_001130009.3(GEN1):c.1098G>C (p.Trp366Cys)
NM_001130009.3(GEN1):c.1099C>T (p.Pro367Ser) rs1023290414
NM_001130009.3(GEN1):c.1103A>C (p.Asn368Thr)
NM_001130009.3(GEN1):c.1109A>G (p.Tyr370Cys)
NM_001130009.3(GEN1):c.1129G>A (p.Val377Ile) rs1271507978
NM_001130009.3(GEN1):c.1133T>G (p.Leu378Arg)
NM_001130009.3(GEN1):c.1150A>G (p.Met384Val)
NM_001130009.3(GEN1):c.115C>T (p.Gln39Ter)
NM_001130009.3(GEN1):c.1161_1164del (p.Arg387fs) rs754513633
NM_001130009.3(GEN1):c.1168G>A (p.Gly390Ser)
NM_001130009.3(GEN1):c.1173C>T (p.Ser391=)
NM_001130009.3(GEN1):c.118A>G (p.Thr40Ala) rs376881321
NM_001130009.3(GEN1):c.118_121del (p.Thr40fs) rs781056250
NM_001130009.3(GEN1):c.1201C>T (p.Arg401Ter)
NM_001130009.3(GEN1):c.1202+6G>C
NM_001130009.3(GEN1):c.1203-1G>T
NM_001130009.3(GEN1):c.1206_1207insCGA (p.Ile402_Val403insArg) rs1672523032
NM_001130009.3(GEN1):c.1207G>T (p.Val403Phe) rs1204822002
NM_001130009.3(GEN1):c.1217G>A (p.Arg406Gln)
NM_001130009.3(GEN1):c.1217G>T (p.Arg406Leu)
NM_001130009.3(GEN1):c.121G>A (p.Val41Ile) rs2125119518
NM_001130009.3(GEN1):c.1237T>C (p.Cys413Arg) rs199769297
NM_001130009.3(GEN1):c.1250A>G (p.Glu417Gly)
NM_001130009.3(GEN1):c.1259del (p.Lys420fs) rs1368422157
NM_001130009.3(GEN1):c.1264+7A>G
NM_001130009.3(GEN1):c.1270T>C (p.Tyr424His)
NM_001130009.3(GEN1):c.1276A>G (p.Met426Val)
NM_001130009.3(GEN1):c.1285A>G (p.Lys429Glu)
NM_001130009.3(GEN1):c.12T>A (p.Asn4Lys)
NM_001130009.3(GEN1):c.1304C>A (p.Ala435Asp)
NM_001130009.3(GEN1):c.130A>G (p.Met44Val) rs1270836576
NM_001130009.3(GEN1):c.1312A>G (p.Thr438Ala) rs1672750557
NM_001130009.3(GEN1):c.1313C>G (p.Thr438Arg)
NM_001130009.3(GEN1):c.1315A>G (p.Ile439Val) rs1672750674
NM_001130009.3(GEN1):c.1331T>A (p.Leu444Ter)
NM_001130009.3(GEN1):c.133A>G (p.Met45Val)
NM_001130009.3(GEN1):c.1340C>T (p.Ala447Val)
NM_001130009.3(GEN1):c.1342G>A (p.Ala448Thr)
NM_001130009.3(GEN1):c.1356C>G (p.Ile452Met)
NM_001130009.3(GEN1):c.135G>C (p.Met45Ile)
NM_001130009.3(GEN1):c.1367A>T (p.Tyr456Phe)
NM_001130009.3(GEN1):c.1369C>T (p.Gln457Ter)
NM_001130009.3(GEN1):c.1376A>G (p.Gln459Arg) rs763725122
NM_001130009.3(GEN1):c.1389T>G (p.Ile463Met)
NM_001130009.3(GEN1):c.1401dup (p.Gln468fs)
NM_001130009.3(GEN1):c.1402C>T (p.Gln468Ter)
NM_001130009.3(GEN1):c.1408+4A>G
NM_001130009.3(GEN1):c.1409-1G>A rs1383525613
NM_001130009.3(GEN1):c.1409-1G>C
NM_001130009.3(GEN1):c.1409-2A>G
NM_001130009.3(GEN1):c.1409G>A (p.Arg470His)
NM_001130009.3(GEN1):c.1417C>T (p.Pro473Ser)
NM_001130009.3(GEN1):c.141C>T (p.Ser47=)
NM_001130009.3(GEN1):c.1424A>G (p.Glu475Gly) rs775854740
NM_001130009.3(GEN1):c.1430A>G (p.Asn477Ser) rs148028719
NM_001130009.3(GEN1):c.1438del (p.Glu480fs)
NM_001130009.3(GEN1):c.145A>G (p.Met49Val)
NM_001130009.3(GEN1):c.1466C>T (p.Ser489Leu)
NM_001130009.3(GEN1):c.1468C>A (p.His490Asn) rs1247649774
NM_001130009.3(GEN1):c.1471A>G (p.Met491Val) rs780197637
NM_001130009.3(GEN1):c.1484C>T (p.Pro495Leu)
NM_001130009.3(GEN1):c.1486A>G (p.Thr496Ala)
NM_001130009.3(GEN1):c.1489T>A (p.Cys497Ser)
NM_001130009.3(GEN1):c.1517A>G (p.Lys506Arg)
NM_001130009.3(GEN1):c.1526C>T (p.Ser509Leu) rs150586336
NM_001130009.3(GEN1):c.1538C>T (p.Pro513Leu)
NM_001130009.3(GEN1):c.1540G>T (p.Asp514Tyr) rs374734445
NM_001130009.3(GEN1):c.1541A>T (p.Asp514Val)
NM_001130009.3(GEN1):c.1543C>G (p.Pro515Ala) rs1232384158
NM_001130009.3(GEN1):c.1546A>G (p.Thr516Ala) rs774454074
NM_001130009.3(GEN1):c.1565T>A (p.Ile522Asn) rs2125177603
NM_001130009.3(GEN1):c.1570G>C (p.Ala524Pro) rs1247543114
NM_001130009.3(GEN1):c.1574C>T (p.Ser525Leu)
NM_001130009.3(GEN1):c.1586T>G (p.Leu529Trp)
NM_001130009.3(GEN1):c.1604C>T (p.Thr535Ile)
NM_001130009.3(GEN1):c.1606C>T (p.Pro536Ser) rs2125177702
NM_001130009.3(GEN1):c.161+5A>T rs201006072
NM_001130009.3(GEN1):c.1615_1620del (p.Asn539_Ala540del) rs763844313
NM_001130009.3(GEN1):c.1619C>T (p.Ala540Val)
NM_001130009.3(GEN1):c.1657A>G (p.Ile553Val)
NM_001130009.3(GEN1):c.1659A>G (p.Ile553Met) rs2125177870
NM_001130009.3(GEN1):c.1663C>G (p.Gln555Glu)
NM_001130009.3(GEN1):c.1673C>T (p.Ala558Val)
NM_001130009.3(GEN1):c.1684T>A (p.Ser562Thr)
NM_001130009.3(GEN1):c.1685C>G (p.Ser562Cys)
NM_001130009.3(GEN1):c.1705C>T (p.Gln569Ter)
NM_001130009.3(GEN1):c.1709C>T (p.Pro570Leu) rs1672795795
NM_001130009.3(GEN1):c.1712A>G (p.Asn571Ser)
NM_001130009.3(GEN1):c.1712A>T (p.Asn571Ile)
NM_001130009.3(GEN1):c.1712del (p.Asn571fs)
NM_001130009.3(GEN1):c.1726A>G (p.Asn576Asp)
NM_001130009.3(GEN1):c.1733C>T (p.Ser578Phe)
NM_001130009.3(GEN1):c.1735G>A (p.Val579Met)
NM_001130009.3(GEN1):c.1751A>C (p.His584Pro)
NM_001130009.3(GEN1):c.1755G>C (p.Leu585Phe)
NM_001130009.3(GEN1):c.1759A>G (p.Thr587Ala)
NM_001130009.3(GEN1):c.175del (p.Arg59fs)
NM_001130009.3(GEN1):c.1760C>G (p.Thr587Ser)
NM_001130009.3(GEN1):c.1760C>T (p.Thr587Ile)
NM_001130009.3(GEN1):c.1762A>G (p.Ile588Val)
NM_001130009.3(GEN1):c.1770_1771insAAAG (p.Glu591fs)
NM_001130009.3(GEN1):c.1777A>C (p.Thr593Pro)
NM_001130009.3(GEN1):c.1778CTT[1] (p.Ser594del) rs757148617
NM_001130009.3(GEN1):c.1780T>A (p.Ser594Thr)
NM_001130009.3(GEN1):c.1784T>C (p.Phe595Ser)
NM_001130009.3(GEN1):c.178A>G (p.Ile60Val)
NM_001130009.3(GEN1):c.178A>T (p.Ile60Phe)
NM_001130009.3(GEN1):c.1795C>A (p.Pro599Thr)
NM_001130009.3(GEN1):c.1798G>T (p.Ala600Ser) rs200602120
NM_001130009.3(GEN1):c.1810A>G (p.Asn604Asp)
NM_001130009.3(GEN1):c.1811A>T (p.Asn604Ile)
NM_001130009.3(GEN1):c.1823A>G (p.His608Arg) rs1672804612
NM_001130009.3(GEN1):c.1840G>C (p.Val614Leu)
NM_001130009.3(GEN1):c.1849G>A (p.Glu617Lys)
NM_001130009.3(GEN1):c.1853dup (p.Ser619fs) rs1672806030
NM_001130009.3(GEN1):c.1855_1893del (p.Ser619_Gln631del)
NM_001130009.3(GEN1):c.1879A>C (p.Asn627His)
NM_001130009.3(GEN1):c.1888G>T (p.Glu630Ter)
NM_001130009.3(GEN1):c.1889A>G (p.Glu630Gly) rs1672807629
NM_001130009.3(GEN1):c.1892A>G (p.Gln631Arg) rs767885752
NM_001130009.3(GEN1):c.1900T>C (p.Cys634Arg)
NM_001130009.3(GEN1):c.1916A>G (p.Tyr639Cys)
NM_001130009.3(GEN1):c.1918A>C (p.Thr640Pro)
NM_001130009.3(GEN1):c.192_193insGTTTA (p.Gln65fs)
NM_001130009.3(GEN1):c.1933_1936del (p.Lys645fs) rs757838363
NM_001130009.3(GEN1):c.196A>G (p.Met66Val) rs141837989
NM_001130009.3(GEN1):c.1981C>T (p.Leu661Phe)
NM_001130009.3(GEN1):c.2000T>G (p.Leu667Ter)
NM_001130009.3(GEN1):c.2008C>A (p.Gln670Lys)
NM_001130009.3(GEN1):c.200A>T (p.Asp67Val) rs775720967
NM_001130009.3(GEN1):c.2027A>G (p.Glu676Gly)
NM_001130009.3(GEN1):c.2030G>A (p.Arg677Gln)
NM_001130009.3(GEN1):c.2038_2039delinsTT (p.Thr680Leu)
NM_001130009.3(GEN1):c.2050T>C (p.Tyr684His)
NM_001130009.3(GEN1):c.2065C>G (p.Leu689Val)
NM_001130009.3(GEN1):c.2074G>C (p.Asp692His)
NM_001130009.3(GEN1):c.2101C>T (p.Leu701Phe)
NM_001130009.3(GEN1):c.2107G>A (p.Val703Ile)
NM_001130009.3(GEN1):c.2110A>G (p.Lys704Glu)
NM_001130009.3(GEN1):c.2125dup (p.Ala709fs) rs2125179834
NM_001130009.3(GEN1):c.2144G>A (p.Cys715Tyr)
NM_001130009.3(GEN1):c.2150C>T (p.Ser717Leu)
NM_001130009.3(GEN1):c.2161A>G (p.Lys721Glu) rs1558413706
NM_001130009.3(GEN1):c.2164G>T (p.Asp722Tyr) rs1672825585
NM_001130009.3(GEN1):c.2171C>T (p.Pro724Leu)
NM_001130009.3(GEN1):c.2187A>T (p.Gln729His) rs2125180032
NM_001130009.3(GEN1):c.218T>C (p.Val73Ala) rs1671673750
NM_001130009.3(GEN1):c.2194T>A (p.Ser732Thr)
NM_001130009.3(GEN1):c.2205_2206del (p.Lys736fs)
NM_001130009.3(GEN1):c.2209del (p.Ile737fs)
NM_001130009.3(GEN1):c.2215A>T (p.Lys739Ter)
NM_001130009.3(GEN1):c.2217del (p.Gly740fs)
NM_001130009.3(GEN1):c.2219_2221del (p.Gly740del) rs573298235
NM_001130009.3(GEN1):c.2245A>G (p.Lys749Glu)
NM_001130009.3(GEN1):c.2248G>T (p.Val750Phe) rs1047211166
NM_001130009.3(GEN1):c.2256_2257dup (p.Ser753fs)
NM_001130009.3(GEN1):c.2258C>G (p.Ser753Cys)
NM_001130009.3(GEN1):c.2258C>T (p.Ser753Phe) rs777649457
NM_001130009.3(GEN1):c.2261T>C (p.Val754Ala)
NM_001130009.3(GEN1):c.2272G>T (p.Val758Phe)
NM_001130009.3(GEN1):c.2294C>T (p.Thr765Ile) rs1360933364
NM_001130009.3(GEN1):c.2341G>A (p.Val781Ile)
NM_001130009.3(GEN1):c.2348T>C (p.Met783Thr)
NM_001130009.3(GEN1):c.2359C>G (p.Arg787Gly)
NM_001130009.3(GEN1):c.2359C>T (p.Arg787Trp)
NM_001130009.3(GEN1):c.236C>G (p.Pro79Arg)
NM_001130009.3(GEN1):c.2386T>C (p.Cys796Arg) rs1558414190
NM_001130009.3(GEN1):c.2402C>T (p.Ser801Phe)
NM_001130009.3(GEN1):c.2411_2419del (p.Glu804_Ser806del)
NM_001130009.3(GEN1):c.2432G>T (p.Gly811Val)
NM_001130009.3(GEN1):c.2447C>G (p.Thr816Arg)
NM_001130009.3(GEN1):c.2458A>G (p.Met820Val) rs760129776
NM_001130009.3(GEN1):c.2479C>T (p.His827Tyr)
NM_001130009.3(GEN1):c.2501_2504del (p.Glu834fs) rs1292531756
NM_001130009.3(GEN1):c.2510A>G (p.His837Arg)
NM_001130009.3(GEN1):c.2524A>G (p.Ser842Gly)
NM_001130009.3(GEN1):c.2525G>A (p.Ser842Asn)
NM_001130009.3(GEN1):c.2533A>G (p.Ile845Val)
NM_001130009.3(GEN1):c.2535dup (p.His846fs) rs2125181880
NM_001130009.3(GEN1):c.2539A>G (p.Ile847Val) rs1672850389
NM_001130009.3(GEN1):c.2545_2548del (p.Glu849fs) rs1672850735
NM_001130009.3(GEN1):c.2548A>G (p.Thr850Ala)
NM_001130009.3(GEN1):c.2564G>A (p.Arg855Lys)
NM_001130009.3(GEN1):c.2579C>G (p.Ala860Gly)
NM_001130009.3(GEN1):c.2579C>T (p.Ala860Val)
NM_001130009.3(GEN1):c.2587G>A (p.Glu863Lys)
NM_001130009.3(GEN1):c.2595C>G (p.Ser865Arg)
NM_001130009.3(GEN1):c.25A>G (p.Ile9Val) rs1467832131
NM_001130009.3(GEN1):c.2603del (p.Pro868fs) rs1672853719
NM_001130009.3(GEN1):c.2606A>T (p.Asp869Val)
NM_001130009.3(GEN1):c.2609C>G (p.Ser870Ter) rs1021584208
NM_001130009.3(GEN1):c.2611A>T (p.Thr871Ser)
NM_001130009.3(GEN1):c.2617A>C (p.Ser873Arg)
NM_001130009.3(GEN1):c.2624dup (p.Ser876fs)
NM_001130009.3(GEN1):c.2633T>C (p.Leu878Pro)
NM_001130009.3(GEN1):c.2642A>C (p.His881Pro) rs201891945
NM_001130009.3(GEN1):c.2642A>T (p.His881Leu)
NM_001130009.3(GEN1):c.2649A>T (p.Lys883Asn) rs1672857983
NM_001130009.3(GEN1):c.2651A>C (p.Glu884Ala)
NM_001130009.3(GEN1):c.2651A>G (p.Glu884Gly) rs1672858182
NM_001130009.3(GEN1):c.2654A>G (p.Asn885Ser)
NM_001130009.3(GEN1):c.2665A>G (p.Thr889Ala) rs1672859787
NM_001130009.3(GEN1):c.2665A>T (p.Thr889Ser) rs1672859787
NM_001130009.3(GEN1):c.2681del (p.Pro894fs)
NM_001130009.3(GEN1):c.2693G>A (p.Arg898His)
NM_001130009.3(GEN1):c.2696A>G (p.Gln899Arg)
NM_001130009.3(GEN1):c.2705_2710del (p.Lys902_Leu903del) rs781690253
NM_001130009.3(GEN1):c.2715C>G (p.Phe905Leu) rs2125182768
NM_001130009.3(GEN1):c.303G>A (p.Trp101Ter)
NM_001130009.3(GEN1):c.303G>T (p.Trp101Cys) rs144005627
NM_001130009.3(GEN1):c.305C>A (p.Ser102Tyr)
NM_001130009.3(GEN1):c.332A>T (p.Lys111Ile)
NM_001130009.3(GEN1):c.343_347del (p.Arg115fs) rs1671679430
NM_001130009.3(GEN1):c.352C>T (p.Leu118Phe)
NM_001130009.3(GEN1):c.403G>T (p.Ala135Ser)
NM_001130009.3(GEN1):c.443T>C (p.Val148Ala)
NM_001130009.3(GEN1):c.445G>A (p.Asp149Asn)
NM_001130009.3(GEN1):c.460A>G (p.Asn154Asp)
NM_001130009.3(GEN1):c.470A>G (p.Asp157Gly)
NM_001130009.3(GEN1):c.476T>C (p.Phe159Ser)
NM_001130009.3(GEN1):c.48C>A (p.His16Gln) rs2125119350
NM_001130009.3(GEN1):c.494C>T (p.Thr165Ile)
NM_001130009.3(GEN1):c.49A>G (p.Ile17Val)
NM_001130009.3(GEN1):c.505A>G (p.Asn169Asp)
NM_001130009.3(GEN1):c.514A>G (p.Met172Val) rs933591876
NM_001130009.3(GEN1):c.517A>G (p.Asn173Asp)
NM_001130009.3(GEN1):c.521C>G (p.Thr174Arg)
NM_001130009.3(GEN1):c.526G>A (p.Asp176Asn) rs1195226740
NM_001130009.3(GEN1):c.532dup (p.His178fs)
NM_001130009.3(GEN1):c.534T>G (p.His178Gln)
NM_001130009.3(GEN1):c.544dup (p.Tyr182fs)
NM_001130009.3(GEN1):c.550A>G (p.Met184Val) rs140068646
NM_001130009.3(GEN1):c.550A>T (p.Met184Leu) rs140068646
NM_001130009.3(GEN1):c.553T>C (p.Ser185Pro)
NM_001130009.3(GEN1):c.562_563del (p.Lys188fs)
NM_001130009.3(GEN1):c.589G>A (p.Ala197Thr) rs1671949136
NM_001130009.3(GEN1):c.598G>A (p.Gly200Arg) rs2125131763
NM_001130009.3(GEN1):c.59G>A (p.Arg20His) rs375511356
NM_001130009.3(GEN1):c.59G>T (p.Arg20Leu)
NM_001130009.3(GEN1):c.606_618del (p.Ile203fs) rs1279802659
NM_001130009.3(GEN1):c.650T>G (p.Val217Gly)
NM_001130009.3(GEN1):c.657A>C (p.Lys219Asn)
NM_001130009.3(GEN1):c.671A>C (p.Lys224Thr) rs1335401253
NM_001130009.3(GEN1):c.673C>T (p.Leu225Phe)
NM_001130009.3(GEN1):c.701del (p.Leu234fs)
NM_001130009.3(GEN1):c.711G>C (p.Arg237Ser)
NM_001130009.3(GEN1):c.718C>T (p.Arg240Trp)
NM_001130009.3(GEN1):c.721T>C (p.Trp241Arg)
NM_001130009.3(GEN1):c.737G>A (p.Cys246Tyr)
NM_001130009.3(GEN1):c.737G>C (p.Cys246Ser)
NM_001130009.3(GEN1):c.743C>G (p.Ser248Cys) rs2125143020
NM_001130009.3(GEN1):c.752A>G (p.Gln251Arg)
NM_001130009.3(GEN1):c.761T>C (p.Val254Ala)
NM_001130009.3(GEN1):c.781T>C (p.Cys261Arg)
NM_001130009.3(GEN1):c.787G>A (p.Val263Ile) rs199991451
NM_001130009.3(GEN1):c.796C>T (p.His266Tyr)
NM_001130009.3(GEN1):c.808C>T (p.Pro270Ser) rs2125146917
NM_001130009.3(GEN1):c.827A>G (p.Asn276Ser) rs762442199
NM_001130009.3(GEN1):c.839T>C (p.Leu280Ser) rs1672246528
NM_001130009.3(GEN1):c.856T>C (p.Tyr286His)
NM_001130009.3(GEN1):c.85G>A (p.Val29Ile)
NM_001130009.3(GEN1):c.85G>C (p.Val29Leu) rs181124955
NM_001130009.3(GEN1):c.869A>C (p.His290Pro)
NM_001130009.3(GEN1):c.873_878del (p.Asp291_Tyr292del) rs775885155
NM_001130009.3(GEN1):c.877G>A (p.Glu293Lys)
NM_001130009.3(GEN1):c.887G>A (p.Cys296Tyr)
NM_001130009.3(GEN1):c.893G>A (p.Cys298Tyr) rs374326909
NM_001130009.3(GEN1):c.899_902dup (p.His301fs)
NM_001130009.3(GEN1):c.8T>C (p.Val3Ala)
NM_001130009.3(GEN1):c.901C>T (p.His301Tyr)
NM_001130009.3(GEN1):c.904C>T (p.Arg302Cys)
NM_001130009.3(GEN1):c.905G>T (p.Arg302Leu)
NM_001130009.3(GEN1):c.906dup (p.Thr303fs)
NM_001130009.3(GEN1):c.908C>G (p.Thr303Arg)
NM_001130009.3(GEN1):c.908C>T (p.Thr303Ile) rs1672250738
NM_001130009.3(GEN1):c.928_929delinsTA (p.Ser310Tyr) rs2125147397
NM_001130009.3(GEN1):c.929_930delinsAG (p.Ser310Lys)
NM_001130009.3(GEN1):c.933_950del (p.Val312_Lys317del)
NM_001130009.3(GEN1):c.943A>G (p.Asn315Asp)
NM_001130009.3(GEN1):c.947T>G (p.Ile316Ser) rs1257622945
NM_001130009.3(GEN1):c.958G>C (p.Ala320Pro)
NM_001130009.3(GEN1):c.969T>G (p.Cys323Trp)
NM_001130009.3(GEN1):c.986A>G (p.His329Arg)
NM_001130009.3(GEN1):c.990G>A (p.Glu330=)
NM_001130009.3(GEN1):c.991-2A>G
NM_001130009.3(GEN1):c.991-3T>C rs754094348
NM_001130009.3(GEN1):c.991G>A (p.Val331Ile) rs1419581946

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