Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36222880_36222910delinsGAGATGCAAAGTGTCAGAAAGGGGGGTCCTACA1846333496CLTA,GNEc.1593_1623delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu531=)
c.1323_1353delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu441=)
c.1500_1530delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu500=)
c.1411+463_1411+493delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (n.1411+463_1411+493delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC)
c.485+18701_485+18731delinsGAGATGCAAAGTGTCAGAAAGGGGGGTCCTA (n.485+18701_485+18731delinsGAGATGCAAAGTGTCAGAAAGGGGGGTCCTA)
c.1170_1200delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu390=)
c.1485_1515delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu495=)
c.1440_1470delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu480=)
c.1347_1377delinsTAGGACCCCCCTTTCTGACACTTTGCATCTC (p.Leu449=)
9g.36222881_36222910delinsTCA645369446CLTA,GNEc.1593_1622delinsA (p.Arg532ProfsTer7)
c.1323_1352delinsA (p.Arg442ProfsTer7)
c.1500_1529delinsA (p.Arg501ProfsTer7)
c.1411+463_1411+492delinsA (n.1411+463_1411+492delinsA)
c.485+18702_485+18731delinsT (n.485+18702_485+18731delinsT)
c.1170_1199delinsA (p.Arg391ProfsTer7)
c.1485_1514delinsA (p.Arg496ProfsTer7)
c.1440_1469delinsA (p.Arg481ProfsTer7)
c.1347_1376delinsA (p.Arg450ProfsTer7)
 ClinVar dbSNP
9g.36222882_36222910delCA2573144642CLTA,GNEc.1594_1622del (p.Arg532ProfsTer7)
c.1324_1352del (p.Arg442ProfsTer7)
c.1501_1529del (p.Arg501ProfsTer7)
c.1411+464_1411+492del (n.1411+464_1411+492del)
c.485+18703_485+18731del (n.485+18703_485+18731del)
c.1171_1199del (p.Arg391ProfsTer7)
c.1486_1514del (p.Arg496ProfsTer7)
c.1441_1469del (p.Arg481ProfsTer7)
c.1348_1376del (p.Arg450ProfsTer7)
 ClinVar dbSNP
9g.36222884_36222910delinsTGCAAAGTGTCAGAAAGGGGGGTCCTACA1846333519CLTA,GNEc.1593_1619delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu531=)
c.1323_1349delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu441=)
c.1500_1526delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu500=)
c.1411+463_1411+489delinsTAGGACCCCCCTTTCTGACACTTTGCA (n.1411+463_1411+489delinsTAGGACCCCCCTTTCTGACACTTTGCA)
c.485+18705_485+18731delinsTGCAAAGTGTCAGAAAGGGGGGTCCTA (n.485+18705_485+18731delinsTGCAAAGTGTCAGAAAGGGGGGTCCTA)
c.1170_1196delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu390=)
c.1485_1511delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu495=)
c.1440_1466delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu480=)
c.1347_1373delinsTAGGACCCCCCTTTCTGACACTTTGCA (p.Leu449=)
9g.36222885_36222910delCA588147072CLTA,GNEc.1593_1618del (p.Arg532SerfsTer8)
c.1323_1348del (p.Arg442SerfsTer8)
c.1500_1525del (p.Arg501SerfsTer8)
c.1411+463_1411+488del (n.1411+463_1411+488del)
c.485+18706_485+18731del (n.485+18706_485+18731del)
c.1170_1195del (p.Arg391SerfsTer8)
c.1485_1510del (p.Arg496SerfsTer8)
c.1440_1465del (p.Arg481SerfsTer8)
c.1347_1372del (p.Arg450SerfsTer8)
 dbSNP gnomAD v2 gnomAD v4
9g.36222887A=CA1846333545CLTA,GNEc.1616T= (p.Leu539=)
c.1346T= (p.Leu449=)
c.1523T= (p.Leu508=)
c.1411+486T= (n.1411+486T=)
c.485+18708A= (n.485+18708A=)
c.1193T= (p.Leu398=)
c.1508T= (p.Leu503=)
c.1463T= (p.Leu488=)
c.1370T= (p.Leu457=)
9g.36222887A>CCA373426471CLTA,GNEc.1616T>G (p.Leu539Trp)
c.1346T>G (p.Leu449Trp)
c.1523T>G (p.Leu508Trp)
c.1411+486T>G (n.1411+486T>G)
c.485+18708A>C (n.485+18708A>C)
c.1193T>G (p.Leu398Trp)
c.1508T>G (p.Leu503Trp)
c.1463T>G (p.Leu488Trp)
c.1370T>G (p.Leu457Trp)
9g.36222887A>GCA16041312CLTA,GNEc.1616T>C (p.Leu539Ser)
c.1346T>C (p.Leu449Ser)
c.1523T>C (p.Leu508Ser)
c.1411+486T>C (n.1411+486T>C)
c.485+18708A>G (n.485+18708A>G)
c.1193T>C (p.Leu398Ser)
c.1508T>C (p.Leu503Ser)
c.1463T>C (p.Leu488Ser)
c.1370T>C (p.Leu457Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222887A>TCA373426475CLTA,GNEc.1616T>A (p.Leu539Ter)
c.1346T>A (p.Leu449Ter)
c.1523T>A (p.Leu508Ter)
c.1411+486T>A (n.1411+486T>A)
c.485+18708A>T (n.485+18708A>T)
c.1193T>A (p.Leu398Ter)
c.1508T>A (p.Leu503Ter)
c.1463T>A (p.Leu488Ter)
c.1370T>A (p.Leu457Ter)
9g.36222888A>CCA373426476CLTA,GNEc.1615T>G (p.Leu539Val)
c.1345T>G (p.Leu449Val)
c.1522T>G (p.Leu508Val)
c.1411+485T>G (n.1411+485T>G)
c.485+18709A>C (n.485+18709A>C)
c.1192T>G (p.Leu398Val)
c.1507T>G (p.Leu503Val)
c.1462T>G (p.Leu488Val)
c.1369T>G (p.Leu457Val)
9g.36222888A>GCA464495214CLTA,GNEc.1615T>C (p.Leu539=)
c.1345T>C (p.Leu449=)
c.1522T>C (p.Leu508=)
c.1411+485T>C (n.1411+485T>C)
c.485+18709A>G (n.485+18709A>G)
c.1192T>C (p.Leu398=)
c.1507T>C (p.Leu503=)
c.1462T>C (p.Leu488=)
c.1369T>C (p.Leu457=)
 ClinVar dbSNP
9g.36222888A>TCA373426479CLTA,GNEc.1615T>A (p.Leu539Met)
c.1345T>A (p.Leu449Met)
c.1522T>A (p.Leu508Met)
c.1411+485T>A (n.1411+485T>A)
c.485+18709A>T (n.485+18709A>T)
c.1192T>A (p.Leu398Met)
c.1507T>A (p.Leu503Met)
c.1462T>A (p.Leu488Met)
c.1369T>A (p.Leu457Met)
9g.36222889A>CCA464495215CLTA,GNEc.1614T>G (p.Thr538=)
c.1344T>G (p.Thr448=)
c.1521T>G (p.Thr507=)
c.1411+484T>G (n.1411+484T>G)
c.485+18710A>C (n.485+18710A>C)
c.1191T>G (p.Thr397=)
c.1506T>G (p.Thr502=)
c.1461T>G (p.Thr487=)
c.1368T>G (p.Thr456=)
9g.36222889A>GCA464495216CLTA,GNEc.1614T>C (p.Thr538=)
c.1344T>C (p.Thr448=)
c.1521T>C (p.Thr507=)
c.1411+484T>C (n.1411+484T>C)
c.485+18710A>G (n.485+18710A>G)
c.1191T>C (p.Thr397=)
c.1506T>C (p.Thr502=)
c.1461T>C (p.Thr487=)
c.1368T>C (p.Thr456=)
9g.36222889A>TCA464495217CLTA,GNEc.1614T>A (p.Thr538=)
c.1344T>A (p.Thr448=)
c.1521T>A (p.Thr507=)
c.1411+484T>A (n.1411+484T>A)
c.485+18710A>T (n.485+18710A>T)
c.1191T>A (p.Thr397=)
c.1506T>A (p.Thr502=)
c.1461T>A (p.Thr487=)
c.1368T>A (p.Thr456=)
9g.36222890G>ACA5056472CLTA,GNEc.1613C>T (p.Thr538Ile)
c.1343C>T (p.Thr448Ile)
c.1520C>T (p.Thr507Ile)
c.1411+483C>T (n.1411+483C>T)
c.485+18711G>A (n.485+18711G>A)
c.1190C>T (p.Thr397Ile)
c.1505C>T (p.Thr502Ile)
c.1460C>T (p.Thr487Ile)
c.1367C>T (p.Thr456Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222890G>CCA373426483CLTA,GNEc.1613C>G (p.Thr538Ser)
c.1343C>G (p.Thr448Ser)
c.1520C>G (p.Thr507Ser)
c.1411+483C>G (n.1411+483C>G)
c.485+18711G>C (n.485+18711G>C)
c.1190C>G (p.Thr397Ser)
c.1505C>G (p.Thr502Ser)
c.1460C>G (p.Thr487Ser)
c.1367C>G (p.Thr456Ser)
9g.36222890G=CA1846333552CLTA,GNEc.1613C= (p.Thr538=)
c.1343C= (p.Thr448=)
c.1520C= (p.Thr507=)
c.1411+483C= (n.1411+483C=)
c.485+18711G= (n.485+18711G=)
c.1190C= (p.Thr397=)
c.1505C= (p.Thr502=)
c.1460C= (p.Thr487=)
c.1367C= (p.Thr456=)
9g.36222890G>TCA373426481CLTA,GNEc.1613C>A (p.Thr538Asn)
c.1343C>A (p.Thr448Asn)
c.1520C>A (p.Thr507Asn)
c.1411+483C>A (n.1411+483C>A)
c.485+18711G>T (n.485+18711G>T)
c.1190C>A (p.Thr397Asn)
c.1505C>A (p.Thr502Asn)
c.1460C>A (p.Thr487Asn)
c.1367C>A (p.Thr456Asn)
9g.36222891T>ACA373426486CLTA,GNEc.1612A>T (p.Thr538Ser)
c.1342A>T (p.Thr448Ser)
c.1519A>T (p.Thr507Ser)
c.1411+482A>T (n.1411+482A>T)
c.485+18712T>A (n.485+18712T>A)
c.1189A>T (p.Thr397Ser)
c.1504A>T (p.Thr502Ser)
c.1459A>T (p.Thr487Ser)
c.1366A>T (p.Thr456Ser)
9g.36222891T>CCA373426489CLTA,GNEc.1612A>G (p.Thr538Ala)
c.1342A>G (p.Thr448Ala)
c.1519A>G (p.Thr507Ala)
c.1411+482A>G (n.1411+482A>G)
c.485+18712T>C (n.485+18712T>C)
c.1189A>G (p.Thr397Ala)
c.1504A>G (p.Thr502Ala)
c.1459A>G (p.Thr487Ala)
c.1366A>G (p.Thr456Ala)
9g.36222891T>GCA373426488CLTA,GNEc.1612A>C (p.Thr538Pro)
c.1342A>C (p.Thr448Pro)
c.1519A>C (p.Thr507Pro)
c.1411+482A>C (n.1411+482A>C)
c.485+18712T>G (n.485+18712T>G)
c.1189A>C (p.Thr397Pro)
c.1504A>C (p.Thr502Pro)
c.1459A>C (p.Thr487Pro)
c.1366A>C (p.Thr456Pro)
9g.36222892G>ACA464495218CLTA,GNEc.1611C>T (p.Asp537=)
c.1341C>T (p.Asp447=)
c.1518C>T (p.Asp506=)
c.1411+481C>T (n.1411+481C>T)
c.485+18713G>A (n.485+18713G>A)
c.1188C>T (p.Asp396=)
c.1503C>T (p.Asp501=)
c.1458C>T (p.Asp486=)
c.1365C>T (p.Asp455=)
9g.36222892G>CCA373426490CLTA,GNEc.1611C>G (p.Asp537Glu)
c.1341C>G (p.Asp447Glu)
c.1518C>G (p.Asp506Glu)
c.1411+481C>G (n.1411+481C>G)
c.485+18713G>C (n.485+18713G>C)
c.1188C>G (p.Asp396Glu)
c.1503C>G (p.Asp501Glu)
c.1458C>G (p.Asp486Glu)
c.1365C>G (p.Asp455Glu)
9g.36222892G>TCA373426492CLTA,GNEc.1611C>A (p.Asp537Glu)
c.1341C>A (p.Asp447Glu)
c.1518C>A (p.Asp506Glu)
c.1411+481C>A (n.1411+481C>A)
c.485+18713G>T (n.485+18713G>T)
c.1188C>A (p.Asp396Glu)
c.1503C>A (p.Asp501Glu)
c.1458C>A (p.Asp486Glu)
c.1365C>A (p.Asp455Glu)
9g.36222893T>ACA373426494CLTA,GNEc.1610A>T (p.Asp537Val)
c.1340A>T (p.Asp447Val)
c.1517A>T (p.Asp506Val)
c.1411+480A>T (n.1411+480A>T)
c.485+18714T>A (n.485+18714T>A)
c.1187A>T (p.Asp396Val)
c.1502A>T (p.Asp501Val)
c.1457A>T (p.Asp486Val)
c.1364A>T (p.Asp455Val)
9g.36222893T>CCA373426495CLTA,GNEc.1610A>G (p.Asp537Gly)
c.1340A>G (p.Asp447Gly)
c.1517A>G (p.Asp506Gly)
c.1411+480A>G (n.1411+480A>G)
c.485+18714T>C (n.485+18714T>C)
c.1187A>G (p.Asp396Gly)
c.1502A>G (p.Asp501Gly)
c.1457A>G (p.Asp486Gly)
c.1364A>G (p.Asp455Gly)
9g.36222893T>GCA373426496CLTA,GNEc.1610A>C (p.Asp537Ala)
c.1340A>C (p.Asp447Ala)
c.1517A>C (p.Asp506Ala)
c.1411+480A>C (n.1411+480A>C)
c.485+18714T>G (n.485+18714T>G)
c.1187A>C (p.Asp396Ala)
c.1502A>C (p.Asp501Ala)
c.1457A>C (p.Asp486Ala)
c.1364A>C (p.Asp455Ala)
9g.36222894C>ACA373426499CLTA,GNEc.1609G>T (p.Asp537Tyr)
c.1339G>T (p.Asp447Tyr)
c.1516G>T (p.Asp506Tyr)
c.1411+479G>T (n.1411+479G>T)
c.485+18715C>A (n.485+18715C>A)
c.1186G>T (p.Asp396Tyr)
c.1501G>T (p.Asp501Tyr)
c.1456G>T (p.Asp486Tyr)
c.1363G>T (p.Asp455Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
9g.36222894C=CA1846333557CLTA,GNEc.1609G= (p.Asp537=)
c.1339G= (p.Asp447=)
c.1516G= (p.Asp506=)
c.1411+479G= (n.1411+479G=)
c.485+18715C= (n.485+18715C=)
c.1186G= (p.Asp396=)
c.1501G= (p.Asp501=)
c.1456G= (p.Asp486=)
c.1363G= (p.Asp455=)
9g.36222894C>GCA373426501CLTA,GNEc.1609G>C (p.Asp537His)
c.1339G>C (p.Asp447His)
c.1516G>C (p.Asp506His)
c.1411+479G>C (n.1411+479G>C)
c.485+18715C>G (n.485+18715C>G)
c.1186G>C (p.Asp396His)
c.1501G>C (p.Asp501His)
c.1456G>C (p.Asp486His)
c.1363G>C (p.Asp455His)
9g.36222894C>TCA373426503CLTA,GNEc.1609G>A (p.Asp537Asn)
c.1339G>A (p.Asp447Asn)
c.1516G>A (p.Asp506Asn)
c.1411+479G>A (n.1411+479G>A)
c.485+18715C>T (n.485+18715C>T)
c.1186G>A (p.Asp396Asn)
c.1501G>A (p.Asp501Asn)
c.1456G>A (p.Asp486Asn)
c.1363G>A (p.Asp455Asn)
9g.36222895A>CCA464495219CLTA,GNEc.1608T>G (p.Ser536=)
c.1338T>G (p.Ser446=)
c.1515T>G (p.Ser505=)
c.1411+478T>G (n.1411+478T>G)
c.485+18716A>C (n.485+18716A>C)
c.1185T>G (p.Ser395=)
c.1500T>G (p.Ser500=)
c.1455T>G (p.Ser485=)
c.1362T>G (p.Ser454=)
9g.36222895A>GCA464495220CLTA,GNEc.1608T>C (p.Ser536=)
c.1338T>C (p.Ser446=)
c.1515T>C (p.Ser505=)
c.1411+478T>C (n.1411+478T>C)
c.485+18716A>G (n.485+18716A>G)
c.1185T>C (p.Ser395=)
c.1500T>C (p.Ser500=)
c.1455T>C (p.Ser485=)
c.1362T>C (p.Ser454=)
9g.36222895A>TCA464495221CLTA,GNEc.1608T>A (p.Ser536=)
c.1338T>A (p.Ser446=)
c.1515T>A (p.Ser505=)
c.1411+478T>A (n.1411+478T>A)
c.485+18716A>T (n.485+18716A>T)
c.1185T>A (p.Ser395=)
c.1500T>A (p.Ser500=)
c.1455T>A (p.Ser485=)
c.1362T>A (p.Ser454=)
9g.36222896G>ACA373426504CLTA,GNEc.1607C>T (p.Ser536Phe)
c.1337C>T (p.Ser446Phe)
c.1514C>T (p.Ser505Phe)
c.1411+477C>T (n.1411+477C>T)
c.485+18717G>A (n.485+18717G>A)
c.1184C>T (p.Ser395Phe)
c.1499C>T (p.Ser500Phe)
c.1454C>T (p.Ser485Phe)
c.1361C>T (p.Ser454Phe)
 COSMIC COSMIC COSMIC
9g.36222896G>CCA373426507CLTA,GNEc.1607C>G (p.Ser536Cys)
c.1337C>G (p.Ser446Cys)
c.1514C>G (p.Ser505Cys)
c.1411+477C>G (n.1411+477C>G)
c.485+18717G>C (n.485+18717G>C)
c.1184C>G (p.Ser395Cys)
c.1499C>G (p.Ser500Cys)
c.1454C>G (p.Ser485Cys)
c.1361C>G (p.Ser454Cys)
9g.36222896G>TCA373426508CLTA,GNEc.1607C>A (p.Ser536Tyr)
c.1337C>A (p.Ser446Tyr)
c.1514C>A (p.Ser505Tyr)
c.1411+477C>A (n.1411+477C>A)
c.485+18717G>T (n.485+18717G>T)
c.1184C>A (p.Ser395Tyr)
c.1499C>A (p.Ser500Tyr)
c.1454C>A (p.Ser485Tyr)
c.1361C>A (p.Ser454Tyr)
9g.36222897A>CCA373426511CLTA,GNEc.1606T>G (p.Ser536Ala)
c.1336T>G (p.Ser446Ala)
c.1513T>G (p.Ser505Ala)
c.1411+476T>G (n.1411+476T>G)
c.485+18718A>C (n.485+18718A>C)
c.1183T>G (p.Ser395Ala)
c.1498T>G (p.Ser500Ala)
c.1453T>G (p.Ser485Ala)
c.1360T>G (p.Ser454Ala)
9g.36222897A>GCA373426513CLTA,GNEc.1606T>C (p.Ser536Pro)
c.1336T>C (p.Ser446Pro)
c.1513T>C (p.Ser505Pro)
c.1411+476T>C (n.1411+476T>C)
c.485+18718A>G (n.485+18718A>G)
c.1183T>C (p.Ser395Pro)
c.1498T>C (p.Ser500Pro)
c.1453T>C (p.Ser485Pro)
c.1360T>C (p.Ser454Pro)
9g.36222897A>TCA373426515CLTA,GNEc.1606T>A (p.Ser536Thr)
c.1336T>A (p.Ser446Thr)
c.1513T>A (p.Ser505Thr)
c.1411+476T>A (n.1411+476T>A)
c.485+18718A>T (n.485+18718A>T)
c.1183T>A (p.Ser395Thr)
c.1498T>A (p.Ser500Thr)
c.1453T>A (p.Ser485Thr)
c.1360T>A (p.Ser454Thr)
9g.36222898A>CCA464495222CLTA,GNEc.1605T>G (p.Leu535=)
c.1335T>G (p.Leu445=)
c.1512T>G (p.Leu504=)
c.1411+475T>G (n.1411+475T>G)
c.485+18719A>C (n.485+18719A>C)
c.1182T>G (p.Leu394=)
c.1497T>G (p.Leu499=)
c.1452T>G (p.Leu484=)
c.1359T>G (p.Leu453=)
9g.36222898A>GCA464495223CLTA,GNEc.1605T>C (p.Leu535=)
c.1335T>C (p.Leu445=)
c.1512T>C (p.Leu504=)
c.1411+475T>C (n.1411+475T>C)
c.485+18719A>G (n.485+18719A>G)
c.1182T>C (p.Leu394=)
c.1497T>C (p.Leu499=)
c.1452T>C (p.Leu484=)
c.1359T>C (p.Leu453=)
 gnomAD v4
9g.36222898A>TCA464495224CLTA,GNEc.1605T>A (p.Leu535=)
c.1335T>A (p.Leu445=)
c.1512T>A (p.Leu504=)
c.1411+475T>A (n.1411+475T>A)
c.485+18719A>T (n.485+18719A>T)
c.1182T>A (p.Leu394=)
c.1497T>A (p.Leu499=)
c.1452T>A (p.Leu484=)
c.1359T>A (p.Leu453=)
9g.36222899A=CA1846333562CLTA,GNEc.1604T= (p.Leu535=)
c.1334T= (p.Leu445=)
c.1511T= (p.Leu504=)
c.1411+474T= (n.1411+474T=)
c.485+18720A= (n.485+18720A=)
c.1181T= (p.Leu394=)
c.1496T= (p.Leu499=)
c.1451T= (p.Leu484=)
c.1358T= (p.Leu453=)
9g.36222899A>CCA373426517CLTA,GNEc.1604T>G (p.Leu535Arg)
c.1334T>G (p.Leu445Arg)
c.1511T>G (p.Leu504Arg)
c.1411+474T>G (n.1411+474T>G)
c.485+18720A>C (n.485+18720A>C)
c.1181T>G (p.Leu394Arg)
c.1496T>G (p.Leu499Arg)
c.1451T>G (p.Leu484Arg)
c.1358T>G (p.Leu453Arg)
 gnomAD v4
9g.36222899A>GCA373426521CLTA,GNEc.1604T>C (p.Leu535Pro)
c.1334T>C (p.Leu445Pro)
c.1511T>C (p.Leu504Pro)
c.1411+474T>C (n.1411+474T>C)
c.485+18720A>G (n.485+18720A>G)
c.1181T>C (p.Leu394Pro)
c.1496T>C (p.Leu499Pro)
c.1451T>C (p.Leu484Pro)
c.1358T>C (p.Leu453Pro)
9g.36222899A>TCA373426519CLTA,GNEc.1604T>A (p.Leu535His)
c.1334T>A (p.Leu445His)
c.1511T>A (p.Leu504His)
c.1411+474T>A (n.1411+474T>A)
c.485+18720A>T (n.485+18720A>T)
c.1181T>A (p.Leu394His)
c.1496T>A (p.Leu499His)
c.1451T>A (p.Leu484His)
c.1358T>A (p.Leu453His)
9g.36222900G>ACA5056473CLTA,GNEc.1603C>T (p.Leu535Phe)
c.1333C>T (p.Leu445Phe)
c.1510C>T (p.Leu504Phe)
c.1411+473C>T (n.1411+473C>T)
c.485+18721G>A (n.485+18721G>A)
c.1180C>T (p.Leu394Phe)
c.1495C>T (p.Leu499Phe)
c.1450C>T (p.Leu484Phe)
c.1357C>T (p.Leu453Phe)
 ClinVar dbSNP ExAC gnomAD v4
9g.36222900G>CCA373426529CLTA,GNEc.1603C>G (p.Leu535Val)
c.1333C>G (p.Leu445Val)
c.1510C>G (p.Leu504Val)
c.1411+473C>G (n.1411+473C>G)
c.485+18721G>C (n.485+18721G>C)
c.1180C>G (p.Leu394Val)
c.1495C>G (p.Leu499Val)
c.1450C>G (p.Leu484Val)
c.1357C>G (p.Leu453Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched