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.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
9g.36222900G=CA1846333571CLTA,GNEc.1603C= (p.Leu535=)
c.1333C= (p.Leu445=)
c.1510C= (p.Leu504=)
c.1411+473C= (n.1411+473C=)
c.485+18721G= (n.485+18721G=)
c.1180C= (p.Leu394=)
c.1495C= (p.Leu499=)
c.1450C= (p.Leu484=)
c.1357C= (p.Leu453=)
9g.36222900G>TCA373426531CLTA,GNEc.1603C>A (p.Leu535Ile)
c.1333C>A (p.Leu445Ile)
c.1510C>A (p.Leu504Ile)
c.1411+473C>A (n.1411+473C>A)
c.485+18721G>T (n.485+18721G>T)
c.1180C>A (p.Leu394Ile)
c.1495C>A (p.Leu499Ile)
c.1450C>A (p.Leu484Ile)
c.1357C>A (p.Leu453Ile)
 gnomAD v4
9g.36222905dupCA1139660952CLTA,GNEc.1603dup (p.Leu535ProfsTer3)
c.1333dup (p.Leu445ProfsTer3)
c.1510dup (p.Leu504ProfsTer3)
c.1411+473dup (n.1411+473dup)
c.485+18726dup (n.485+18726dup)
c.1180dup (p.Leu394ProfsTer3)
c.1495dup (p.Leu499ProfsTer3)
c.1450dup (p.Leu484ProfsTer3)
c.1357dup (p.Leu453ProfsTer3)
 ClinVar dbSNP gnomAD v4
9g.36222901G>ACA464495225CLTA,GNEc.1602C>T (p.Pro534=)
c.1332C>T (p.Pro444=)
c.1509C>T (p.Pro503=)
c.1411+472C>T (n.1411+472C>T)
c.485+18722G>A (n.485+18722G>A)
c.1179C>T (p.Pro393=)
c.1494C>T (p.Pro498=)
c.1449C>T (p.Pro483=)
c.1356C>T (p.Pro452=)
 gnomAD v4
9g.36222901G>CCA5056474CLTA,GNEc.1602C>G (p.Pro534=)
c.1332C>G (p.Pro444=)
c.1509C>G (p.Pro503=)
c.1411+472C>G (n.1411+472C>G)
c.485+18722G>C (n.485+18722G>C)
c.1179C>G (p.Pro393=)
c.1494C>G (p.Pro498=)
c.1449C>G (p.Pro483=)
c.1356C>G (p.Pro452=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222901G=CA1846333591CLTA,GNEc.1602C= (p.Pro534=)
c.1332C= (p.Pro444=)
c.1509C= (p.Pro503=)
c.1411+472C= (n.1411+472C=)
c.485+18722G= (n.485+18722G=)
c.1179C= (p.Pro393=)
c.1494C= (p.Pro498=)
c.1449C= (p.Pro483=)
c.1356C= (p.Pro452=)
9g.36222901G>TCA464495226CLTA,GNEc.1602C>A (p.Pro534=)
c.1332C>A (p.Pro444=)
c.1509C>A (p.Pro503=)
c.1411+472C>A (n.1411+472C>A)
c.485+18722G>T (n.485+18722G>T)
c.1179C>A (p.Pro393=)
c.1494C>A (p.Pro498=)
c.1449C>A (p.Pro483=)
c.1356C>A (p.Pro452=)
 ClinVar dbSNP gnomAD v4
9g.36222902G>ACA373426541CLTA,GNEc.1601C>T (p.Pro534Leu)
c.1331C>T (p.Pro444Leu)
c.1508C>T (p.Pro503Leu)
c.1411+471C>T (n.1411+471C>T)
c.485+18723G>A (n.485+18723G>A)
c.1178C>T (p.Pro393Leu)
c.1493C>T (p.Pro498Leu)
c.1448C>T (p.Pro483Leu)
c.1355C>T (p.Pro452Leu)
9g.36222902G>CCA5056475CLTA,GNEc.1601C>G (p.Pro534Arg)
c.1331C>G (p.Pro444Arg)
c.1508C>G (p.Pro503Arg)
c.1411+471C>G (n.1411+471C>G)
c.485+18723G>C (n.485+18723G>C)
c.1178C>G (p.Pro393Arg)
c.1493C>G (p.Pro498Arg)
c.1448C>G (p.Pro483Arg)
c.1355C>G (p.Pro452Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222902G=CA1846333613CLTA,GNEc.1601C= (p.Pro534=)
c.1331C= (p.Pro444=)
c.1508C= (p.Pro503=)
c.1411+471C= (n.1411+471C=)
c.485+18723G= (n.485+18723G=)
c.1178C= (p.Pro393=)
c.1493C= (p.Pro498=)
c.1448C= (p.Pro483=)
c.1355C= (p.Pro452=)
9g.36222902G>TCA373426544CLTA,GNEc.1601C>A (p.Pro534His)
c.1331C>A (p.Pro444His)
c.1508C>A (p.Pro503His)
c.1411+471C>A (n.1411+471C>A)
c.485+18723G>T (n.485+18723G>T)
c.1178C>A (p.Pro393His)
c.1493C>A (p.Pro498His)
c.1448C>A (p.Pro483His)
c.1355C>A (p.Pro452His)
9g.36222903G>ACA373426546CLTA,GNEc.1600C>T (p.Pro534Ser)
c.1330C>T (p.Pro444Ser)
c.1507C>T (p.Pro503Ser)
c.1411+470C>T (n.1411+470C>T)
c.485+18724G>A (n.485+18724G>A)
c.1177C>T (p.Pro393Ser)
c.1492C>T (p.Pro498Ser)
c.1447C>T (p.Pro483Ser)
c.1354C>T (p.Pro452Ser)
 COSMIC COSMIC COSMIC
9g.36222903G>CCA373426549CLTA,GNEc.1600C>G (p.Pro534Ala)
c.1330C>G (p.Pro444Ala)
c.1507C>G (p.Pro503Ala)
c.1411+470C>G (n.1411+470C>G)
c.485+18724G>C (n.485+18724G>C)
c.1177C>G (p.Pro393Ala)
c.1492C>G (p.Pro498Ala)
c.1447C>G (p.Pro483Ala)
c.1354C>G (p.Pro452Ala)
9g.36222903G>TCA373426551CLTA,GNEc.1600C>A (p.Pro534Thr)
c.1330C>A (p.Pro444Thr)
c.1507C>A (p.Pro503Thr)
c.1411+470C>A (n.1411+470C>A)
c.485+18724G>T (n.485+18724G>T)
c.1177C>A (p.Pro393Thr)
c.1492C>A (p.Pro498Thr)
c.1447C>A (p.Pro483Thr)
c.1354C>A (p.Pro452Thr)
9g.36222904G>ACA464495227CLTA,GNEc.1599C>T (p.Thr533=)
c.1329C>T (p.Thr443=)
c.1506C>T (p.Thr502=)
c.1411+469C>T (n.1411+469C>T)
c.485+18725G>A (n.485+18725G>A)
c.1176C>T (p.Thr392=)
c.1491C>T (p.Thr497=)
c.1446C>T (p.Thr482=)
c.1353C>T (p.Thr451=)
9g.36222904G>CCA464495228CLTA,GNEc.1599C>G (p.Thr533=)
c.1329C>G (p.Thr443=)
c.1506C>G (p.Thr502=)
c.1411+469C>G (n.1411+469C>G)
c.485+18725G>C (n.485+18725G>C)
c.1176C>G (p.Thr392=)
c.1491C>G (p.Thr497=)
c.1446C>G (p.Thr482=)
c.1353C>G (p.Thr451=)
9g.36222904G>TCA464495229CLTA,GNEc.1599C>A (p.Thr533=)
c.1329C>A (p.Thr443=)
c.1506C>A (p.Thr502=)
c.1411+469C>A (n.1411+469C>A)
c.485+18725G>T (n.485+18725G>T)
c.1176C>A (p.Thr392=)
c.1491C>A (p.Thr497=)
c.1446C>A (p.Thr482=)
c.1353C>A (p.Thr451=)
 gnomAD v4
9g.36222905G>ACA373426556CLTA,GNEc.1598C>T (p.Thr533Ile)
c.1328C>T (p.Thr443Ile)
c.1505C>T (p.Thr502Ile)
c.1411+468C>T (n.1411+468C>T)
c.485+18726G>A (n.485+18726G>A)
c.1175C>T (p.Thr392Ile)
c.1490C>T (p.Thr497Ile)
c.1445C>T (p.Thr482Ile)
c.1352C>T (p.Thr451Ile)
9g.36222905G>CCA373426557CLTA,GNEc.1598C>G (p.Thr533Ser)
c.1328C>G (p.Thr443Ser)
c.1505C>G (p.Thr502Ser)
c.1411+468C>G (n.1411+468C>G)
c.485+18726G>C (n.485+18726G>C)
c.1175C>G (p.Thr392Ser)
c.1490C>G (p.Thr497Ser)
c.1445C>G (p.Thr482Ser)
c.1352C>G (p.Thr451Ser)
9g.36222905G=CA1846333624CLTA,GNEc.1598C= (p.Thr533=)
c.1328C= (p.Thr443=)
c.1505C= (p.Thr502=)
c.1411+468C= (n.1411+468C=)
c.485+18726G= (n.485+18726G=)
c.1175C= (p.Thr392=)
c.1490C= (p.Thr497=)
c.1445C= (p.Thr482=)
c.1352C= (p.Thr451=)
9g.36222905G>TCA373426553CLTA,GNEc.1598C>A (p.Thr533Asn)
c.1328C>A (p.Thr443Asn)
c.1505C>A (p.Thr502Asn)
c.1411+468C>A (n.1411+468C>A)
c.485+18726G>T (n.485+18726G>T)
c.1175C>A (p.Thr392Asn)
c.1490C>A (p.Thr497Asn)
c.1445C>A (p.Thr482Asn)
c.1352C>A (p.Thr451Asn)
 dbSNP gnomAD v2 gnomAD v4
9g.36222906T>ACA373426560CLTA,GNEc.1597A>T (p.Thr533Ser)
c.1327A>T (p.Thr443Ser)
c.1504A>T (p.Thr502Ser)
c.1411+467A>T (n.1411+467A>T)
c.485+18727T>A (n.485+18727T>A)
c.1174A>T (p.Thr392Ser)
c.1489A>T (p.Thr497Ser)
c.1444A>T (p.Thr482Ser)
c.1351A>T (p.Thr451Ser)
9g.36222906T>CCA373426563CLTA,GNEc.1597A>G (p.Thr533Ala)
c.1327A>G (p.Thr443Ala)
c.1504A>G (p.Thr502Ala)
c.1411+467A>G (n.1411+467A>G)
c.485+18727T>C (n.485+18727T>C)
c.1174A>G (p.Thr392Ala)
c.1489A>G (p.Thr497Ala)
c.1444A>G (p.Thr482Ala)
c.1351A>G (p.Thr451Ala)
9g.36222906T>GCA373426573CLTA,GNEc.1597A>C (p.Thr533Pro)
c.1327A>C (p.Thr443Pro)
c.1504A>C (p.Thr502Pro)
c.1411+467A>C (n.1411+467A>C)
c.485+18727T>G (n.485+18727T>G)
c.1174A>C (p.Thr392Pro)
c.1489A>C (p.Thr497Pro)
c.1444A>C (p.Thr482Pro)
c.1351A>C (p.Thr451Pro)
9g.36222907C>ACA373426576CLTA,GNEc.1596G>T (p.Arg532Ser)
c.1326G>T (p.Arg442Ser)
c.1503G>T (p.Arg501Ser)
c.1411+466G>T (n.1411+466G>T)
c.485+18728C>A (n.485+18728C>A)
c.1173G>T (p.Arg391Ser)
c.1488G>T (p.Arg496Ser)
c.1443G>T (p.Arg481Ser)
c.1350G>T (p.Arg450Ser)
9g.36222907C>GCA373426578CLTA,GNEc.1596G>C (p.Arg532Ser)
c.1326G>C (p.Arg442Ser)
c.1503G>C (p.Arg501Ser)
c.1411+466G>C (n.1411+466G>C)
c.485+18728C>G (n.485+18728C>G)
c.1173G>C (p.Arg391Ser)
c.1488G>C (p.Arg496Ser)
c.1443G>C (p.Arg481Ser)
c.1350G>C (p.Arg450Ser)
9g.36222907C>TCA464495230CLTA,GNEc.1596G>A (p.Arg532=)
c.1326G>A (p.Arg442=)
c.1503G>A (p.Arg501=)
c.1411+466G>A (n.1411+466G>A)
c.485+18728C>T (n.485+18728C>T)
c.1173G>A (p.Arg391=)
c.1488G>A (p.Arg496=)
c.1443G>A (p.Arg481=)
c.1350G>A (p.Arg450=)
9g.36222908C>ACA373426588CLTA,GNEc.1595G>T (p.Arg532Met)
c.1325G>T (p.Arg442Met)
c.1502G>T (p.Arg501Met)
c.1411+465G>T (n.1411+465G>T)
c.485+18729C>A (n.485+18729C>A)
c.1172G>T (p.Arg391Met)
c.1487G>T (p.Arg496Met)
c.1442G>T (p.Arg481Met)
c.1349G>T (p.Arg450Met)
9g.36222908C>GCA373426581CLTA,GNEc.1595G>C (p.Arg532Thr)
c.1325G>C (p.Arg442Thr)
c.1502G>C (p.Arg501Thr)
c.1411+465G>C (n.1411+465G>C)
c.485+18729C>G (n.485+18729C>G)
c.1172G>C (p.Arg391Thr)
c.1487G>C (p.Arg496Thr)
c.1442G>C (p.Arg481Thr)
c.1349G>C (p.Arg450Thr)
9g.36222908C>TCA373426583CLTA,GNEc.1595G>A (p.Arg532Lys)
c.1325G>A (p.Arg442Lys)
c.1502G>A (p.Arg501Lys)
c.1411+465G>A (n.1411+465G>A)
c.485+18729C>T (n.485+18729C>T)
c.1172G>A (p.Arg391Lys)
c.1487G>A (p.Arg496Lys)
c.1442G>A (p.Arg481Lys)
c.1349G>A (p.Arg450Lys)
9g.36222909T>ACA373426589CLTA,GNEc.1594A>T (p.Arg532Trp)
c.1324A>T (p.Arg442Trp)
c.1501A>T (p.Arg501Trp)
c.1411+464A>T (n.1411+464A>T)
c.485+18730T>A (n.485+18730T>A)
c.1171A>T (p.Arg391Trp)
c.1486A>T (p.Arg496Trp)
c.1441A>T (p.Arg481Trp)
c.1348A>T (p.Arg450Trp)
9g.36222909T>CCA373426591CLTA,GNEc.1594A>G (p.Arg532Gly)
c.1324A>G (p.Arg442Gly)
c.1501A>G (p.Arg501Gly)
c.1411+464A>G (n.1411+464A>G)
c.485+18730T>C (n.485+18730T>C)
c.1171A>G (p.Arg391Gly)
c.1486A>G (p.Arg496Gly)
c.1441A>G (p.Arg481Gly)
c.1348A>G (p.Arg450Gly)
 gnomAD v4
9g.36222909T>GCA464495231CLTA,GNEc.1594A>C (p.Arg532=)
c.1324A>C (p.Arg442=)
c.1501A>C (p.Arg501=)
c.1411+464A>C (n.1411+464A>C)
c.485+18730T>G (n.485+18730T>G)
c.1171A>C (p.Arg391=)
c.1486A>C (p.Arg496=)
c.1441A>C (p.Arg481=)
c.1348A>C (p.Arg450=)
9g.36222910A>CCA464495232CLTA,GNEc.1593T>G (p.Leu531=)
c.1323T>G (p.Leu441=)
c.1500T>G (p.Leu500=)
c.1411+463T>G (n.1411+463T>G)
c.485+18731A>C (n.485+18731A>C)
c.1170T>G (p.Leu390=)
c.1485T>G (p.Leu495=)
c.1440T>G (p.Leu480=)
c.1347T>G (p.Leu449=)
 gnomAD v4
9g.36222910A>GCA464495233CLTA,GNEc.1593T>C (p.Leu531=)
c.1323T>C (p.Leu441=)
c.1500T>C (p.Leu500=)
c.1411+463T>C (n.1411+463T>C)
c.485+18731A>G (n.485+18731A>G)
c.1170T>C (p.Leu390=)
c.1485T>C (p.Leu495=)
c.1440T>C (p.Leu480=)
c.1347T>C (p.Leu449=)
 gnomAD v4
9g.36222910A>TCA464495234CLTA,GNEc.1593T>A (p.Leu531=)
c.1323T>A (p.Leu441=)
c.1500T>A (p.Leu500=)
c.1411+463T>A (n.1411+463T>A)
c.485+18731A>T (n.485+18731A>T)
c.1170T>A (p.Leu390=)
c.1485T>A (p.Leu495=)
c.1440T>A (p.Leu480=)
c.1347T>A (p.Leu449=)
 ClinVar dbSNP
9g.36222911A>CCA373426597CLTA,GNEc.1592T>G (p.Leu531Arg)
c.1322T>G (p.Leu441Arg)
c.1499T>G (p.Leu500Arg)
c.1411+462T>G (n.1411+462T>G)
c.485+18732A>C (n.485+18732A>C)
c.1169T>G (p.Leu390Arg)
c.1484T>G (p.Leu495Arg)
c.1439T>G (p.Leu480Arg)
c.1346T>G (p.Leu449Arg)
9g.36222911A>GCA373426599CLTA,GNEc.1592T>C (p.Leu531Pro)
c.1322T>C (p.Leu441Pro)
c.1499T>C (p.Leu500Pro)
c.1411+462T>C (n.1411+462T>C)
c.485+18732A>G (n.485+18732A>G)
c.1169T>C (p.Leu390Pro)
c.1484T>C (p.Leu495Pro)
c.1439T>C (p.Leu480Pro)
c.1346T>C (p.Leu449Pro)
9g.36222911A>TCA373426601CLTA,GNEc.1592T>A (p.Leu531His)
c.1322T>A (p.Leu441His)
c.1499T>A (p.Leu500His)
c.1411+462T>A (n.1411+462T>A)
c.485+18732A>T (n.485+18732A>T)
c.1169T>A (p.Leu390His)
c.1484T>A (p.Leu495His)
c.1439T>A (p.Leu480His)
c.1346T>A (p.Leu449His)
9g.36222912G>ACA373426603CLTA,GNEc.1591C>T (p.Leu531Phe)
c.1321C>T (p.Leu441Phe)
c.1498C>T (p.Leu500Phe)
c.1411+461C>T (n.1411+461C>T)
c.485+18733G>A (n.485+18733G>A)
c.1168C>T (p.Leu390Phe)
c.1483C>T (p.Leu495Phe)
c.1438C>T (p.Leu480Phe)
c.1345C>T (p.Leu449Phe)
 gnomAD v4
9g.36222912G>CCA373426607CLTA,GNEc.1591C>G (p.Leu531Val)
c.1321C>G (p.Leu441Val)
c.1498C>G (p.Leu500Val)
c.1411+461C>G (n.1411+461C>G)
c.485+18733G>C (n.485+18733G>C)
c.1168C>G (p.Leu390Val)
c.1483C>G (p.Leu495Val)
c.1438C>G (p.Leu480Val)
c.1345C>G (p.Leu449Val)
9g.36222912G>TCA373426606CLTA,GNEc.1591C>A (p.Leu531Ile)
c.1321C>A (p.Leu441Ile)
c.1498C>A (p.Leu500Ile)
c.1411+461C>A (n.1411+461C>A)
c.485+18733G>T (n.485+18733G>T)
c.1168C>A (p.Leu390Ile)
c.1483C>A (p.Leu495Ile)
c.1438C>A (p.Leu480Ile)
c.1345C>A (p.Leu449Ile)
9g.36222913G>ACA464495235CLTA,GNEc.1590C>T (p.Asp530=)
c.1320C>T (p.Asp440=)
c.1497C>T (p.Asp499=)
c.1411+460C>T (n.1411+460C>T)
c.485+18734G>A (n.485+18734G>A)
c.1167C>T (p.Asp389=)
c.1482C>T (p.Asp494=)
c.1437C>T (p.Asp479=)
c.1344C>T (p.Asp448=)
9g.36222913G>CCA373426610CLTA,GNEc.1590C>G (p.Asp530Glu)
c.1320C>G (p.Asp440Glu)
c.1497C>G (p.Asp499Glu)
c.1411+460C>G (n.1411+460C>G)
c.485+18734G>C (n.485+18734G>C)
c.1167C>G (p.Asp389Glu)
c.1482C>G (p.Asp494Glu)
c.1437C>G (p.Asp479Glu)
c.1344C>G (p.Asp448Glu)
9g.36222913G>TCA373426612CLTA,GNEc.1590C>A (p.Asp530Glu)
c.1320C>A (p.Asp440Glu)
c.1497C>A (p.Asp499Glu)
c.1411+460C>A (n.1411+460C>A)
c.485+18734G>T (n.485+18734G>T)
c.1167C>A (p.Asp389Glu)
c.1482C>A (p.Asp494Glu)
c.1437C>A (p.Asp479Glu)
c.1344C>A (p.Asp448Glu)
 COSMIC COSMIC COSMIC
9g.36222914T>ACA373426615CLTA,GNEc.1589A>T (p.Asp530Val)
c.1319A>T (p.Asp440Val)
c.1496A>T (p.Asp499Val)
c.1411+459A>T (n.1411+459A>T)
c.485+18735T>A (n.485+18735T>A)
c.1166A>T (p.Asp389Val)
c.1481A>T (p.Asp494Val)
c.1436A>T (p.Asp479Val)
c.1343A>T (p.Asp448Val)
9g.36222914T>CCA373426617CLTA,GNEc.1589A>G (p.Asp530Gly)
c.1319A>G (p.Asp440Gly)
c.1496A>G (p.Asp499Gly)
c.1411+459A>G (n.1411+459A>G)
c.485+18735T>C (n.485+18735T>C)
c.1166A>G (p.Asp389Gly)
c.1481A>G (p.Asp494Gly)
c.1436A>G (p.Asp479Gly)
c.1343A>G (p.Asp448Gly)
9g.36222914T>GCA373426618CLTA,GNEc.1589A>C (p.Asp530Ala)
c.1319A>C (p.Asp440Ala)
c.1496A>C (p.Asp499Ala)
c.1411+459A>C (n.1411+459A>C)
c.485+18735T>G (n.485+18735T>G)
c.1166A>C (p.Asp389Ala)
c.1481A>C (p.Asp494Ala)
c.1436A>C (p.Asp479Ala)
c.1343A>C (p.Asp448Ala)
9g.36222915C>ACA373426619CLTA,GNEc.1588G>T (p.Asp530Tyr)
c.1318G>T (p.Asp440Tyr)
c.1495G>T (p.Asp499Tyr)
c.1411+458G>T (n.1411+458G>T)
c.485+18736C>A (n.485+18736C>A)
c.1165G>T (p.Asp389Tyr)
c.1480G>T (p.Asp494Tyr)
c.1435G>T (p.Asp479Tyr)
c.1342G>T (p.Asp448Tyr)
 dbSNP gnomAD v3 gnomAD v4
9g.36222915C=CA1846333630CLTA,GNEc.1588G= (p.Asp530=)
c.1318G= (p.Asp440=)
c.1495G= (p.Asp499=)
c.1411+458G= (n.1411+458G=)
c.485+18736C= (n.485+18736C=)
c.1165G= (p.Asp389=)
c.1480G= (p.Asp494=)
c.1435G= (p.Asp479=)
c.1342G= (p.Asp448=)
9g.36222915C>GCA373426622CLTA,GNEc.1588G>C (p.Asp530His)
c.1318G>C (p.Asp440His)
c.1495G>C (p.Asp499His)
c.1411+458G>C (n.1411+458G>C)
c.485+18736C>G (n.485+18736C>G)
c.1165G>C (p.Asp389His)
c.1480G>C (p.Asp494His)
c.1435G>C (p.Asp479His)
c.1342G>C (p.Asp448His)
9g.36222915C>TCA373426623CLTA,GNEc.1588G>A (p.Asp530Asn)
c.1318G>A (p.Asp440Asn)
c.1495G>A (p.Asp499Asn)
c.1411+458G>A (n.1411+458G>A)
c.485+18736C>T (n.485+18736C>T)
c.1165G>A (p.Asp389Asn)
c.1480G>A (p.Asp494Asn)
c.1435G>A (p.Asp479Asn)
c.1342G>A (p.Asp448Asn)
9g.36222916C>ACA464495236CLTA,GNEc.1587G>T (p.Val529=)
c.1317G>T (p.Val439=)
c.1494G>T (p.Val498=)
c.1411+457G>T (n.1411+457G>T)
c.485+18737C>A (n.485+18737C>A)
c.1164G>T (p.Val388=)
c.1479G>T (p.Val493=)
c.1434G>T (p.Val478=)
c.1341G>T (p.Val447=)
9g.36222916C>GCA464495237CLTA,GNEc.1587G>C (p.Val529=)
c.1317G>C (p.Val439=)
c.1494G>C (p.Val498=)
c.1411+457G>C (n.1411+457G>C)
c.485+18737C>G (n.485+18737C>G)
c.1164G>C (p.Val388=)
c.1479G>C (p.Val493=)
c.1434G>C (p.Val478=)
c.1341G>C (p.Val447=)
9g.36222916C>TCA464495238CLTA,GNEc.1587G>A (p.Val529=)
c.1317G>A (p.Val439=)
c.1494G>A (p.Val498=)
c.1411+457G>A (n.1411+457G>A)
c.485+18737C>T (n.485+18737C>T)
c.1164G>A (p.Val388=)
c.1479G>A (p.Val493=)
c.1434G>A (p.Val478=)
c.1341G>A (p.Val447=)
9g.36222917A>CCA373426624CLTA,GNEc.1586T>G (p.Val529Gly)
c.1316T>G (p.Val439Gly)
c.1493T>G (p.Val498Gly)
c.1411+456T>G (n.1411+456T>G)
c.485+18738A>C (n.485+18738A>C)
c.1163T>G (p.Val388Gly)
c.1478T>G (p.Val493Gly)
c.1433T>G (p.Val478Gly)
c.1340T>G (p.Val447Gly)
9g.36222917A>GCA373426625CLTA,GNEc.1586T>C (p.Val529Ala)
c.1316T>C (p.Val439Ala)
c.1493T>C (p.Val498Ala)
c.1411+456T>C (n.1411+456T>C)
c.485+18738A>G (n.485+18738A>G)
c.1163T>C (p.Val388Ala)
c.1478T>C (p.Val493Ala)
c.1433T>C (p.Val478Ala)
c.1340T>C (p.Val447Ala)
9g.36222917A>TCA373426626CLTA,GNEc.1586T>A (p.Val529Glu)
c.1316T>A (p.Val439Glu)
c.1493T>A (p.Val498Glu)
c.1411+456T>A (n.1411+456T>A)
c.485+18738A>T (n.485+18738A>T)
c.1163T>A (p.Val388Glu)
c.1478T>A (p.Val493Glu)
c.1433T>A (p.Val478Glu)
c.1340T>A (p.Val447Glu)
9g.36222918C>ACA373426632CLTA,GNEc.1585G>T (p.Val529Leu)
c.1315G>T (p.Val439Leu)
c.1492G>T (p.Val498Leu)
c.1411+455G>T (n.1411+455G>T)
c.485+18739C>A (n.485+18739C>A)
c.1162G>T (p.Val388Leu)
c.1477G>T (p.Val493Leu)
c.1432G>T (p.Val478Leu)
c.1339G>T (p.Val447Leu)
9g.36222918C>GCA373426631CLTA,GNEc.1585G>C (p.Val529Leu)
c.1315G>C (p.Val439Leu)
c.1492G>C (p.Val498Leu)
c.1411+455G>C (n.1411+455G>C)
c.485+18739C>G (n.485+18739C>G)
c.1162G>C (p.Val388Leu)
c.1477G>C (p.Val493Leu)
c.1432G>C (p.Val478Leu)
c.1339G>C (p.Val447Leu)
9g.36222918C>TCA373426628CLTA,GNEc.1585G>A (p.Val529Met)
c.1315G>A (p.Val439Met)
c.1492G>A (p.Val498Met)
c.1411+455G>A (n.1411+455G>A)
c.485+18739C>T (n.485+18739C>T)
c.1162G>A (p.Val388Met)
c.1477G>A (p.Val493Met)
c.1432G>A (p.Val478Met)
c.1339G>A (p.Val447Met)
9g.36222919A>CCA464495239CLTA,GNEc.1584T>G (p.Ser528=)
c.1314T>G (p.Ser438=)
c.1491T>G (p.Ser497=)
c.1411+454T>G (n.1411+454T>G)
c.485+18740A>C (n.485+18740A>C)
c.1161T>G (p.Ser387=)
c.1476T>G (p.Ser492=)
c.1431T>G (p.Ser477=)
c.1338T>G (p.Ser446=)
9g.36222919A>GCA464495240CLTA,GNEc.1584T>C (p.Ser528=)
c.1314T>C (p.Ser438=)
c.1491T>C (p.Ser497=)
c.1411+454T>C (n.1411+454T>C)
c.485+18740A>G (n.485+18740A>G)
c.1161T>C (p.Ser387=)
c.1476T>C (p.Ser492=)
c.1431T>C (p.Ser477=)
c.1338T>C (p.Ser446=)
9g.36222919A>TCA464495241CLTA,GNEc.1584T>A (p.Ser528=)
c.1314T>A (p.Ser438=)
c.1491T>A (p.Ser497=)
c.1411+454T>A (n.1411+454T>A)
c.485+18740A>T (n.485+18740A>T)
c.1161T>A (p.Ser387=)
c.1476T>A (p.Ser492=)
c.1431T>A (p.Ser477=)
c.1338T>A (p.Ser446=)
9g.36222920G>ACA373426634CLTA,GNEc.1583C>T (p.Ser528Phe)
c.1313C>T (p.Ser438Phe)
c.1490C>T (p.Ser497Phe)
c.1411+453C>T (n.1411+453C>T)
c.485+18741G>A (n.485+18741G>A)
c.1160C>T (p.Ser387Phe)
c.1475C>T (p.Ser492Phe)
c.1430C>T (p.Ser477Phe)
c.1337C>T (p.Ser446Phe)
 gnomAD v4
9g.36222920G>CCA373426639CLTA,GNEc.1583C>G (p.Ser528Cys)
c.1313C>G (p.Ser438Cys)
c.1490C>G (p.Ser497Cys)
c.1411+453C>G (n.1411+453C>G)
c.485+18741G>C (n.485+18741G>C)
c.1160C>G (p.Ser387Cys)
c.1475C>G (p.Ser492Cys)
c.1430C>G (p.Ser477Cys)
c.1337C>G (p.Ser446Cys)
9g.36222920G>TCA373426636CLTA,GNEc.1583C>A (p.Ser528Tyr)
c.1313C>A (p.Ser438Tyr)
c.1490C>A (p.Ser497Tyr)
c.1411+453C>A (n.1411+453C>A)
c.485+18741G>T (n.485+18741G>T)
c.1160C>A (p.Ser387Tyr)
c.1475C>A (p.Ser492Tyr)
c.1430C>A (p.Ser477Tyr)
c.1337C>A (p.Ser446Tyr)
9g.36222921A>CCA373426642CLTA,GNEc.1582T>G (p.Ser528Ala)
c.1312T>G (p.Ser438Ala)
c.1489T>G (p.Ser497Ala)
c.1411+452T>G (n.1411+452T>G)
c.485+18742A>C (n.485+18742A>C)
c.1159T>G (p.Ser387Ala)
c.1474T>G (p.Ser492Ala)
c.1429T>G (p.Ser477Ala)
c.1336T>G (p.Ser446Ala)
9g.36222921A>GCA373426644CLTA,GNEc.1582T>C (p.Ser528Pro)
c.1312T>C (p.Ser438Pro)
c.1489T>C (p.Ser497Pro)
c.1411+452T>C (n.1411+452T>C)
c.485+18742A>G (n.485+18742A>G)
c.1159T>C (p.Ser387Pro)
c.1474T>C (p.Ser492Pro)
c.1429T>C (p.Ser477Pro)
c.1336T>C (p.Ser446Pro)
9g.36222921A>TCA373426645CLTA,GNEc.1582T>A (p.Ser528Thr)
c.1312T>A (p.Ser438Thr)
c.1489T>A (p.Ser497Thr)
c.1411+452T>A (n.1411+452T>A)
c.485+18742A>T (n.485+18742A>T)
c.1159T>A (p.Ser387Thr)
c.1474T>A (p.Ser492Thr)
c.1429T>A (p.Ser477Thr)
c.1336T>A (p.Ser446Thr)
9g.36222922G>ACA464495242CLTA,GNEc.1581C>T (p.Asn527=)
c.1311C>T (p.Asn437=)
c.1488C>T (p.Asn496=)
c.1411+451C>T (n.1411+451C>T)
c.485+18743G>A (n.485+18743G>A)
c.1158C>T (p.Asn386=)
c.1473C>T (p.Asn491=)
c.1428C>T (p.Asn476=)
c.1335C>T (p.Asn445=)
 ClinVar
9g.36222922G>CCA373426647CLTA,GNEc.1581C>G (p.Asn527Lys)
c.1311C>G (p.Asn437Lys)
c.1488C>G (p.Asn496Lys)
c.1411+451C>G (n.1411+451C>G)
c.485+18743G>C (n.485+18743G>C)
c.1158C>G (p.Asn386Lys)
c.1473C>G (p.Asn491Lys)
c.1428C>G (p.Asn476Lys)
c.1335C>G (p.Asn445Lys)
9g.36222922G>TCA373426648CLTA,GNEc.1581C>A (p.Asn527Lys)
c.1311C>A (p.Asn437Lys)
c.1488C>A (p.Asn496Lys)
c.1411+451C>A (n.1411+451C>A)
c.485+18743G>T (n.485+18743G>T)
c.1158C>A (p.Asn386Lys)
c.1473C>A (p.Asn491Lys)
c.1428C>A (p.Asn476Lys)
c.1335C>A (p.Asn445Lys)
9g.36222923T>ACA373426650CLTA,GNEc.1580A>T (p.Asn527Ile)
c.1310A>T (p.Asn437Ile)
c.1487A>T (p.Asn496Ile)
c.1411+450A>T (n.1411+450A>T)
c.485+18744T>A (n.485+18744T>A)
c.1157A>T (p.Asn386Ile)
c.1472A>T (p.Asn491Ile)
c.1427A>T (p.Asn476Ile)
c.1334A>T (p.Asn445Ile)
9g.36222923T>CCA373426652CLTA,GNEc.1580A>G (p.Asn527Ser)
c.1310A>G (p.Asn437Ser)
c.1487A>G (p.Asn496Ser)
c.1411+450A>G (n.1411+450A>G)
c.485+18744T>C (n.485+18744T>C)
c.1157A>G (p.Asn386Ser)
c.1472A>G (p.Asn491Ser)
c.1427A>G (p.Asn476Ser)
c.1334A>G (p.Asn445Ser)
9g.36222923T>GCA373426653CLTA,GNEc.1580A>C (p.Asn527Thr)
c.1310A>C (p.Asn437Thr)
c.1487A>C (p.Asn496Thr)
c.1411+450A>C (n.1411+450A>C)
c.485+18744T>G (n.485+18744T>G)
c.1157A>C (p.Asn386Thr)
c.1472A>C (p.Asn491Thr)
c.1427A>C (p.Asn476Thr)
c.1334A>C (p.Asn445Thr)
9g.36222924T>ACA373426655CLTA,GNEc.1579A>T (p.Asn527Tyr)
c.1309A>T (p.Asn437Tyr)
c.1486A>T (p.Asn496Tyr)
c.1411+449A>T (n.1411+449A>T)
c.485+18745T>A (n.485+18745T>A)
c.1156A>T (p.Asn386Tyr)
c.1471A>T (p.Asn491Tyr)
c.1426A>T (p.Asn476Tyr)
c.1333A>T (p.Asn445Tyr)
9g.36222924T>CCA373426656CLTA,GNEc.1579A>G (p.Asn527Asp)
c.1309A>G (p.Asn437Asp)
c.1486A>G (p.Asn496Asp)
c.1411+449A>G (n.1411+449A>G)
c.485+18745T>C (n.485+18745T>C)
c.1156A>G (p.Asn386Asp)
c.1471A>G (p.Asn491Asp)
c.1426A>G (p.Asn476Asp)
c.1333A>G (p.Asn445Asp)
 gnomAD v4
9g.36222924T>GCA373426658CLTA,GNEc.1579A>C (p.Asn527His)
c.1309A>C (p.Asn437His)
c.1486A>C (p.Asn496His)
c.1411+449A>C (n.1411+449A>C)
c.485+18745T>G (n.485+18745T>G)
c.1156A>C (p.Asn386His)
c.1471A>C (p.Asn491His)
c.1426A>C (p.Asn476His)
c.1333A>C (p.Asn445His)
9g.36222925C>ACA373426665CLTA,GNEc.1578G>T (p.Trp526Cys)
c.1308G>T (p.Trp436Cys)
c.1485G>T (p.Trp495Cys)
c.1411+448G>T (n.1411+448G>T)
c.485+18746C>A (n.485+18746C>A)
c.1155G>T (p.Trp385Cys)
c.1470G>T (p.Trp490Cys)
c.1425G>T (p.Trp475Cys)
c.1332G>T (p.Trp444Cys)
9g.36222925C=CA1846333638CLTA,GNEc.1578G= (p.Trp526=)
c.1308G= (p.Trp436=)
c.1485G= (p.Trp495=)
c.1411+448G= (n.1411+448G=)
c.485+18746C= (n.485+18746C=)
c.1155G= (p.Trp385=)
c.1470G= (p.Trp490=)
c.1425G= (p.Trp475=)
c.1332G= (p.Trp444=)
9g.36222925C>GCA373426663CLTA,GNEc.1578G>C (p.Trp526Cys)
c.1308G>C (p.Trp436Cys)
c.1485G>C (p.Trp495Cys)
c.1411+448G>C (n.1411+448G>C)
c.485+18746C>G (n.485+18746C>G)
c.1155G>C (p.Trp385Cys)
c.1470G>C (p.Trp490Cys)
c.1425G>C (p.Trp475Cys)
c.1332G>C (p.Trp444Cys)
9g.36222925C>TCA373426660CLTA,GNEc.1578G>A (p.Trp526Ter)
c.1308G>A (p.Trp436Ter)
c.1485G>A (p.Trp495Ter)
c.1411+448G>A (n.1411+448G>A)
c.485+18746C>T (n.485+18746C>T)
c.1155G>A (p.Trp385Ter)
c.1470G>A (p.Trp490Ter)
c.1425G>A (p.Trp475Ter)
c.1332G>A (p.Trp444Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222926C>ACA373426667CLTA,GNEc.1577G>T (p.Trp526Leu)
c.1307G>T (p.Trp436Leu)
c.1484G>T (p.Trp495Leu)
c.1411+447G>T (n.1411+447G>T)
c.485+18747C>A (n.485+18747C>A)
c.1154G>T (p.Trp385Leu)
c.1469G>T (p.Trp490Leu)
c.1424G>T (p.Trp475Leu)
c.1331G>T (p.Trp444Leu)
9g.36222926C=CA1846333648CLTA,GNEc.1577G= (p.Trp526=)
c.1307G= (p.Trp436=)
c.1484G= (p.Trp495=)
c.1411+447G= (n.1411+447G=)
c.485+18747C= (n.485+18747C=)
c.1154G= (p.Trp385=)
c.1469G= (p.Trp490=)
c.1424G= (p.Trp475=)
c.1331G= (p.Trp444=)
9g.36222926C>GCA373426668CLTA,GNEc.1577G>C (p.Trp526Ser)
c.1307G>C (p.Trp436Ser)
c.1484G>C (p.Trp495Ser)
c.1411+447G>C (n.1411+447G>C)
c.485+18747C>G (n.485+18747C>G)
c.1154G>C (p.Trp385Ser)
c.1469G>C (p.Trp490Ser)
c.1424G>C (p.Trp475Ser)
c.1331G>C (p.Trp444Ser)
9g.36222926C>TCA373426669CLTA,GNEc.1577G>A (p.Trp526Ter)
c.1307G>A (p.Trp436Ter)
c.1484G>A (p.Trp495Ter)
c.1411+447G>A (n.1411+447G>A)
c.485+18747C>T (n.485+18747C>T)
c.1154G>A (p.Trp385Ter)
c.1469G>A (p.Trp490Ter)
c.1424G>A (p.Trp475Ter)
c.1331G>A (p.Trp444Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36222927A=CA1846333658CLTA,GNEc.1576T= (p.Trp526=)
c.1306T= (p.Trp436=)
c.1483T= (p.Trp495=)
c.1411+446T= (n.1411+446T=)
c.485+18748A= (n.485+18748A=)
c.1153T= (p.Trp385=)
c.1468T= (p.Trp490=)
c.1423T= (p.Trp475=)
c.1330T= (p.Trp444=)
9g.36222927A>CCA373426671CLTA,GNEc.1576T>G (p.Trp526Gly)
c.1306T>G (p.Trp436Gly)
c.1483T>G (p.Trp495Gly)
c.1411+446T>G (n.1411+446T>G)
c.485+18748A>C (n.485+18748A>C)
c.1153T>G (p.Trp385Gly)
c.1468T>G (p.Trp490Gly)
c.1423T>G (p.Trp475Gly)
c.1330T>G (p.Trp444Gly)
9g.36222927A>GCA373426673CLTA,GNEc.1576T>C (p.Trp526Arg)
c.1306T>C (p.Trp436Arg)
c.1483T>C (p.Trp495Arg)
c.1411+446T>C (n.1411+446T>C)
c.485+18748A>G (n.485+18748A>G)
c.1153T>C (p.Trp385Arg)
c.1468T>C (p.Trp490Arg)
c.1423T>C (p.Trp475Arg)
c.1330T>C (p.Trp444Arg)
9g.36222927A>TCA373426675CLTA,GNEc.1576T>A (p.Trp526Arg)
c.1306T>A (p.Trp436Arg)
c.1483T>A (p.Trp495Arg)
c.1411+446T>A (n.1411+446T>A)
c.485+18748A>T (n.485+18748A>T)
c.1153T>A (p.Trp385Arg)
c.1468T>A (p.Trp490Arg)
c.1423T>A (p.Trp475Arg)
c.1330T>A (p.Trp444Arg)
 dbSNP
9g.36222928C>ACA373426677CLTA,GNEc.1575G>T (p.Glu525Asp)
c.1305G>T (p.Glu435Asp)
c.1482G>T (p.Glu494Asp)
c.1411+445G>T (n.1411+445G>T)
c.485+18749C>A (n.485+18749C>A)
c.1152G>T (p.Glu384Asp)
c.1467G>T (p.Glu489Asp)
c.1422G>T (p.Glu474Asp)
c.1329G>T (p.Glu443Asp)
9g.36222928C=CA1846333688CLTA,GNEc.1575G= (p.Glu525=)
c.1305G= (p.Glu435=)
c.1482G= (p.Glu494=)
c.1411+445G= (n.1411+445G=)
c.485+18749C= (n.485+18749C=)
c.1152G= (p.Glu384=)
c.1467G= (p.Glu489=)
c.1422G= (p.Glu474=)
c.1329G= (p.Glu443=)
9g.36222928C>GCA373426678CLTA,GNEc.1575G>C (p.Glu525Asp)
c.1305G>C (p.Glu435Asp)
c.1482G>C (p.Glu494Asp)
c.1411+445G>C (n.1411+445G>C)
c.485+18749C>G (n.485+18749C>G)
c.1152G>C (p.Glu384Asp)
c.1467G>C (p.Glu489Asp)
c.1422G>C (p.Glu474Asp)
c.1329G>C (p.Glu443Asp)
9g.36222928C>TCA464495243CLTA,GNEc.1575G>A (p.Glu525=)
c.1305G>A (p.Glu435=)
c.1482G>A (p.Glu494=)
c.1411+445G>A (n.1411+445G>A)
c.485+18749C>T (n.485+18749C>T)
c.1152G>A (p.Glu384=)
c.1467G>A (p.Glu489=)
c.1422G>A (p.Glu474=)
c.1329G>A (p.Glu443=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36222929T>ACA373426681CLTA,GNEc.1574A>T (p.Glu525Val)
c.1304A>T (p.Glu435Val)
c.1481A>T (p.Glu494Val)
c.1411+444A>T (n.1411+444A>T)
c.485+18750T>A (n.485+18750T>A)
c.1151A>T (p.Glu384Val)
c.1466A>T (p.Glu489Val)
c.1421A>T (p.Glu474Val)
c.1328A>T (p.Glu443Val)
9g.36222929T>CCA373426684CLTA,GNEc.1574A>G (p.Glu525Gly)
c.1304A>G (p.Glu435Gly)
c.1481A>G (p.Glu494Gly)
c.1411+444A>G (n.1411+444A>G)
c.485+18750T>C (n.485+18750T>C)
c.1151A>G (p.Glu384Gly)
c.1466A>G (p.Glu489Gly)
c.1421A>G (p.Glu474Gly)
c.1328A>G (p.Glu443Gly)
9g.36222929T>GCA373426687CLTA,GNEc.1574A>C (p.Glu525Ala)
c.1304A>C (p.Glu435Ala)
c.1481A>C (p.Glu494Ala)
c.1411+444A>C (n.1411+444A>C)
c.485+18750T>G (n.485+18750T>G)
c.1151A>C (p.Glu384Ala)
c.1466A>C (p.Glu489Ala)
c.1421A>C (p.Glu474Ala)
c.1328A>C (p.Glu443Ala)
9g.36222930C>ACA373426693CLTA,GNEc.1573G>T (p.Glu525Ter)
c.1303G>T (p.Glu435Ter)
c.1480G>T (p.Glu494Ter)
c.1411+443G>T (n.1411+443G>T)
c.485+18751C>A (n.485+18751C>A)
c.1150G>T (p.Glu384Ter)
c.1465G>T (p.Glu489Ter)
c.1420G>T (p.Glu474Ter)
c.1327G>T (p.Glu443Ter)
9g.36222930C>GCA373426691CLTA,GNEc.1573G>C (p.Glu525Gln)
c.1303G>C (p.Glu435Gln)
c.1480G>C (p.Glu494Gln)
c.1411+443G>C (n.1411+443G>C)
c.485+18751C>G (n.485+18751C>G)
c.1150G>C (p.Glu384Gln)
c.1465G>C (p.Glu489Gln)
c.1420G>C (p.Glu474Gln)
c.1327G>C (p.Glu443Gln)
 gnomAD v4
9g.36222930C>TCA373426690CLTA,GNEc.1573G>A (p.Glu525Lys)
c.1303G>A (p.Glu435Lys)
c.1480G>A (p.Glu494Lys)
c.1411+443G>A (n.1411+443G>A)
c.485+18751C>T (n.485+18751C>T)
c.1150G>A (p.Glu384Lys)
c.1465G>A (p.Glu489Lys)
c.1420G>A (p.Glu474Lys)
c.1327G>A (p.Glu443Lys)
9g.36222931T>ACA373426695CLTA,GNEc.1572A>T (p.Gln524His)
c.1302A>T (p.Gln434His)
c.1479A>T (p.Gln493His)
c.1411+442A>T (n.1411+442A>T)
c.485+18752T>A (n.485+18752T>A)
c.1149A>T (p.Gln383His)
c.1464A>T (p.Gln488His)
c.1419A>T (p.Gln473His)
c.1326A>T (p.Gln442His)
9g.36222931T>CCA464495244CLTA,GNEc.1572A>G (p.Gln524=)
c.1302A>G (p.Gln434=)
c.1479A>G (p.Gln493=)
c.1411+442A>G (n.1411+442A>G)
c.485+18752T>C (n.485+18752T>C)
c.1149A>G (p.Gln383=)
c.1464A>G (p.Gln488=)
c.1419A>G (p.Gln473=)
c.1326A>G (p.Gln442=)
9g.36222931T>GCA5056476CLTA,GNEc.1572A>C (p.Gln524His)
c.1302A>C (p.Gln434His)
c.1479A>C (p.Gln493His)
c.1411+442A>C (n.1411+442A>C)
c.485+18752T>G (n.485+18752T>G)
c.1149A>C (p.Gln383His)
c.1464A>C (p.Gln488His)
c.1419A>C (p.Gln473His)
c.1326A>C (p.Gln442His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222931T=CA1846333694CLTA,GNEc.1572A= (p.Gln524=)
c.1302A= (p.Gln434=)
c.1479A= (p.Gln493=)
c.1411+442A= (n.1411+442A=)
c.485+18752T= (n.485+18752T=)
c.1149A= (p.Gln383=)
c.1464A= (p.Gln488=)
c.1419A= (p.Gln473=)
c.1326A= (p.Gln442=)
9g.36222932T>ACA373426699CLTA,GNEc.1571A>T (p.Gln524Leu)
c.1301A>T (p.Gln434Leu)
c.1478A>T (p.Gln493Leu)
c.1411+441A>T (n.1411+441A>T)
c.485+18753T>A (n.485+18753T>A)
c.1148A>T (p.Gln383Leu)
c.1463A>T (p.Gln488Leu)
c.1418A>T (p.Gln473Leu)
c.1325A>T (p.Gln442Leu)
9g.36222932T>CCA373426701CLTA,GNEc.1571A>G (p.Gln524Arg)
c.1301A>G (p.Gln434Arg)
c.1478A>G (p.Gln493Arg)
c.1411+441A>G (n.1411+441A>G)
c.485+18753T>C (n.485+18753T>C)
c.1148A>G (p.Gln383Arg)
c.1463A>G (p.Gln488Arg)
c.1418A>G (p.Gln473Arg)
c.1325A>G (p.Gln442Arg)
9g.36222932T>GCA373426704CLTA,GNEc.1571A>C (p.Gln524Pro)
c.1301A>C (p.Gln434Pro)
c.1478A>C (p.Gln493Pro)
c.1411+441A>C (n.1411+441A>C)
c.485+18753T>G (n.485+18753T>G)
c.1148A>C (p.Gln383Pro)
c.1463A>C (p.Gln488Pro)
c.1418A>C (p.Gln473Pro)
c.1325A>C (p.Gln442Pro)
9g.36222933G>ACA373426709CLTA,GNEc.1570C>T (p.Gln524Ter)
c.1300C>T (p.Gln434Ter)
c.1477C>T (p.Gln493Ter)
c.1411+440C>T (n.1411+440C>T)
c.485+18754G>A (n.485+18754G>A)
c.1147C>T (p.Gln383Ter)
c.1462C>T (p.Gln488Ter)
c.1417C>T (p.Gln473Ter)
c.1324C>T (p.Gln442Ter)
9g.36222933G>CCA373426712CLTA,GNEc.1570C>G (p.Gln524Glu)
c.1300C>G (p.Gln434Glu)
c.1477C>G (p.Gln493Glu)
c.1411+440C>G (n.1411+440C>G)
c.485+18754G>C (n.485+18754G>C)
c.1147C>G (p.Gln383Glu)
c.1462C>G (p.Gln488Glu)
c.1417C>G (p.Gln473Glu)
c.1324C>G (p.Gln442Glu)
9g.36222933G>TCA373426713CLTA,GNEc.1570C>A (p.Gln524Lys)
c.1300C>A (p.Gln434Lys)
c.1477C>A (p.Gln493Lys)
c.1411+440C>A (n.1411+440C>A)
c.485+18754G>T (n.485+18754G>T)
c.1147C>A (p.Gln383Lys)
c.1462C>A (p.Gln488Lys)
c.1417C>A (p.Gln473Lys)
c.1324C>A (p.Gln442Lys)
 COSMIC COSMIC COSMIC
9g.36222934G>ACA464495245CLTA,GNEc.1569C>T (p.Ile523=)
c.1299C>T (p.Ile433=)
c.1476C>T (p.Ile492=)
c.1411+439C>T (n.1411+439C>T)
c.485+18755G>A (n.485+18755G>A)
c.1146C>T (p.Ile382=)
c.1461C>T (p.Ile487=)
c.1416C>T (p.Ile472=)
c.1323C>T (p.Ile441=)
 ClinVar gnomAD v4
9g.36222934G>CCA373426716CLTA,GNEc.1569C>G (p.Ile523Met)
c.1299C>G (p.Ile433Met)
c.1476C>G (p.Ile492Met)
c.1411+439C>G (n.1411+439C>G)
c.485+18755G>C (n.485+18755G>C)
c.1146C>G (p.Ile382Met)
c.1461C>G (p.Ile487Met)
c.1416C>G (p.Ile472Met)
c.1323C>G (p.Ile441Met)
9g.36222934G>TCA464495246CLTA,GNEc.1569C>A (p.Ile523=)
c.1299C>A (p.Ile433=)
c.1476C>A (p.Ile492=)
c.1411+439C>A (n.1411+439C>A)
c.485+18755G>T (n.485+18755G>T)
c.1146C>A (p.Ile382=)
c.1461C>A (p.Ile487=)
c.1416C>A (p.Ile472=)
c.1323C>A (p.Ile441=)
9g.36222935A=CA1846333704CLTA,GNEc.1568T= (p.Ile523=)
c.1298T= (p.Ile433=)
c.1475T= (p.Ile492=)
c.1411+438T= (n.1411+438T=)
c.485+18756A= (n.485+18756A=)
c.1145T= (p.Ile382=)
c.1460T= (p.Ile487=)
c.1415T= (p.Ile472=)
c.1322T= (p.Ile441=)
9g.36222935A>CCA373426718CLTA,GNEc.1568T>G (p.Ile523Ser)
c.1298T>G (p.Ile433Ser)
c.1475T>G (p.Ile492Ser)
c.1411+438T>G (n.1411+438T>G)
c.485+18756A>C (n.485+18756A>C)
c.1145T>G (p.Ile382Ser)
c.1460T>G (p.Ile487Ser)
c.1415T>G (p.Ile472Ser)
c.1322T>G (p.Ile441Ser)
9g.36222935A>GCA373426720CLTA,GNEc.1568T>C (p.Ile523Thr)
c.1298T>C (p.Ile433Thr)
c.1475T>C (p.Ile492Thr)
c.1411+438T>C (n.1411+438T>C)
c.485+18756A>G (n.485+18756A>G)
c.1145T>C (p.Ile382Thr)
c.1460T>C (p.Ile487Thr)
c.1415T>C (p.Ile472Thr)
c.1322T>C (p.Ile441Thr)
9g.36222935A>TCA373426721CLTA,GNEc.1568T>A (p.Ile523Asn)
c.1298T>A (p.Ile433Asn)
c.1475T>A (p.Ile492Asn)
c.1411+438T>A (n.1411+438T>A)
c.485+18756A>T (n.485+18756A>T)
c.1145T>A (p.Ile382Asn)
c.1460T>A (p.Ile487Asn)
c.1415T>A (p.Ile472Asn)
c.1322T>A (p.Ile441Asn)
 ClinVar dbSNP gnomAD v4
9g.36222936T>ACA373426726CLTA,GNEc.1567A>T (p.Ile523Phe)
c.1297A>T (p.Ile433Phe)
c.1474A>T (p.Ile492Phe)
c.1411+437A>T (n.1411+437A>T)
c.485+18757T>A (n.485+18757T>A)
c.1144A>T (p.Ile382Phe)
c.1459A>T (p.Ile487Phe)
c.1414A>T (p.Ile472Phe)
c.1321A>T (p.Ile441Phe)
9g.36222936T>CCA373426725CLTA,GNEc.1567A>G (p.Ile523Val)
c.1297A>G (p.Ile433Val)
c.1474A>G (p.Ile492Val)
c.1411+437A>G (n.1411+437A>G)
c.485+18757T>C (n.485+18757T>C)
c.1144A>G (p.Ile382Val)
c.1459A>G (p.Ile487Val)
c.1414A>G (p.Ile472Val)
c.1321A>G (p.Ile441Val)
9g.36222936T>GCA373426723CLTA,GNEc.1567A>C (p.Ile523Leu)
c.1297A>C (p.Ile433Leu)
c.1474A>C (p.Ile492Leu)
c.1411+437A>C (n.1411+437A>C)
c.485+18757T>G (n.485+18757T>G)
c.1144A>C (p.Ile382Leu)
c.1459A>C (p.Ile487Leu)
c.1414A>C (p.Ile472Leu)
c.1321A>C (p.Ile441Leu)
 gnomAD v4
9g.36222937C>ACA464495247CLTA,GNEc.1566G>T (p.Leu522=)
c.1296G>T (p.Leu432=)
c.1473G>T (p.Leu491=)
c.1411+436G>T (n.1411+436G>T)
c.485+18758C>A (n.485+18758C>A)
c.1143G>T (p.Leu381=)
c.1458G>T (p.Leu486=)
c.1413G>T (p.Leu471=)
c.1320G>T (p.Leu440=)
9g.36222937C>GCA464495248CLTA,GNEc.1566G>C (p.Leu522=)
c.1296G>C (p.Leu432=)
c.1473G>C (p.Leu491=)
c.1411+436G>C (n.1411+436G>C)
c.485+18758C>G (n.485+18758C>G)
c.1143G>C (p.Leu381=)
c.1458G>C (p.Leu486=)
c.1413G>C (p.Leu471=)
c.1320G>C (p.Leu440=)
9g.36222937C>TCA464495249CLTA,GNEc.1566G>A (p.Leu522=)
c.1296G>A (p.Leu432=)
c.1473G>A (p.Leu491=)
c.1411+436G>A (n.1411+436G>A)
c.485+18758C>T (n.485+18758C>T)
c.1143G>A (p.Leu381=)
c.1458G>A (p.Leu486=)
c.1413G>A (p.Leu471=)
c.1320G>A (p.Leu440=)
 gnomAD v4
9g.36222938A>CCA373426728CLTA,GNEc.1565T>G (p.Leu522Arg)
c.1295T>G (p.Leu432Arg)
c.1472T>G (p.Leu491Arg)
c.1411+435T>G (n.1411+435T>G)
c.485+18759A>C (n.485+18759A>C)
c.1142T>G (p.Leu381Arg)
c.1457T>G (p.Leu486Arg)
c.1412T>G (p.Leu471Arg)
c.1319T>G (p.Leu440Arg)
9g.36222938A>GCA373426734CLTA,GNEc.1565T>C (p.Leu522Pro)
c.1295T>C (p.Leu432Pro)
c.1472T>C (p.Leu491Pro)
c.1411+435T>C (n.1411+435T>C)
c.485+18759A>G (n.485+18759A>G)
c.1142T>C (p.Leu381Pro)
c.1457T>C (p.Leu486Pro)
c.1412T>C (p.Leu471Pro)
c.1319T>C (p.Leu440Pro)
9g.36222938A>TCA373426735CLTA,GNEc.1565T>A (p.Leu522Gln)
c.1295T>A (p.Leu432Gln)
c.1472T>A (p.Leu491Gln)
c.1411+435T>A (n.1411+435T>A)
c.485+18759A>T (n.485+18759A>T)
c.1142T>A (p.Leu381Gln)
c.1457T>A (p.Leu486Gln)
c.1412T>A (p.Leu471Gln)
c.1319T>A (p.Leu440Gln)
9g.36222939G>ACA464495250CLTA,GNEc.1564C>T (p.Leu522=)
c.1294C>T (p.Leu432=)
c.1471C>T (p.Leu491=)
c.1411+434C>T (n.1411+434C>T)
c.485+18760G>A (n.485+18760G>A)
c.1141C>T (p.Leu381=)
c.1456C>T (p.Leu486=)
c.1411C>T (p.Leu471=)
c.1318C>T (p.Leu440=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36222939G>CCA373426739CLTA,GNEc.1564C>G (p.Leu522Val)
c.1294C>G (p.Leu432Val)
c.1471C>G (p.Leu491Val)
c.1411+434C>G (n.1411+434C>G)
c.485+18760G>C (n.485+18760G>C)
c.1141C>G (p.Leu381Val)
c.1456C>G (p.Leu486Val)
c.1411C>G (p.Leu471Val)
c.1318C>G (p.Leu440Val)
9g.36222939G=CA1846333708CLTA,GNEc.1564C= (p.Leu522=)
c.1294C= (p.Leu432=)
c.1471C= (p.Leu491=)
c.1411+434C= (n.1411+434C=)
c.485+18760G= (n.485+18760G=)
c.1141C= (p.Leu381=)
c.1456C= (p.Leu486=)
c.1411C= (p.Leu471=)
c.1318C= (p.Leu440=)
9g.36222939G>TCA373426740CLTA,GNEc.1564C>A (p.Leu522Met)
c.1294C>A (p.Leu432Met)
c.1471C>A (p.Leu491Met)
c.1411+434C>A (n.1411+434C>A)
c.485+18760G>T (n.485+18760G>T)
c.1141C>A (p.Leu381Met)
c.1456C>A (p.Leu486Met)
c.1411C>A (p.Leu471Met)
c.1318C>A (p.Leu440Met)
9g.36222940T>ACA373426744CLTA,GNEc.1563A>T (p.Lys521Asn)
c.1293A>T (p.Lys431Asn)
c.1470A>T (p.Lys490Asn)
c.1411+433A>T (n.1411+433A>T)
c.485+18761T>A (n.485+18761T>A)
c.1140A>T (p.Lys380Asn)
c.1455A>T (p.Lys485Asn)
c.1410A>T (p.Lys470Asn)
c.1317A>T (p.Lys439Asn)
9g.36222940T>CCA464495251CLTA,GNEc.1563A>G (p.Lys521=)
c.1293A>G (p.Lys431=)
c.1470A>G (p.Lys490=)
c.1411+433A>G (n.1411+433A>G)
c.485+18761T>C (n.485+18761T>C)
c.1140A>G (p.Lys380=)
c.1455A>G (p.Lys485=)
c.1410A>G (p.Lys470=)
c.1317A>G (p.Lys439=)
 ClinVar gnomAD v4
9g.36222940T>GCA373426745CLTA,GNEc.1563A>C (p.Lys521Asn)
c.1293A>C (p.Lys431Asn)
c.1470A>C (p.Lys490Asn)
c.1411+433A>C (n.1411+433A>C)
c.485+18761T>G (n.485+18761T>G)
c.1140A>C (p.Lys380Asn)
c.1455A>C (p.Lys485Asn)
c.1410A>C (p.Lys470Asn)
c.1317A>C (p.Lys439Asn)
9g.36222941T>ACA373426746CLTA,GNEc.1562A>T (p.Lys521Ile)
c.1292A>T (p.Lys431Ile)
c.1469A>T (p.Lys490Ile)
c.1411+432A>T (n.1411+432A>T)
c.485+18762T>A (n.485+18762T>A)
c.1139A>T (p.Lys380Ile)
c.1454A>T (p.Lys485Ile)
c.1409A>T (p.Lys470Ile)
c.1316A>T (p.Lys439Ile)
9g.36222941T>CCA373426747CLTA,GNEc.1562A>G (p.Lys521Arg)
c.1292A>G (p.Lys431Arg)
c.1469A>G (p.Lys490Arg)
c.1411+432A>G (n.1411+432A>G)
c.485+18762T>C (n.485+18762T>C)
c.1139A>G (p.Lys380Arg)
c.1454A>G (p.Lys485Arg)
c.1409A>G (p.Lys470Arg)
c.1316A>G (p.Lys439Arg)
9g.36222941T>GCA373426749CLTA,GNEc.1562A>C (p.Lys521Thr)
c.1292A>C (p.Lys431Thr)
c.1469A>C (p.Lys490Thr)
c.1411+432A>C (n.1411+432A>C)
c.485+18762T>G (n.485+18762T>G)
c.1139A>C (p.Lys380Thr)
c.1454A>C (p.Lys485Thr)
c.1409A>C (p.Lys470Thr)
c.1316A>C (p.Lys439Thr)
9g.36222942T>ACA373426751CLTA,GNEc.1561A>T (p.Lys521Ter)
c.1291A>T (p.Lys431Ter)
c.1468A>T (p.Lys490Ter)
c.1411+431A>T (n.1411+431A>T)
c.485+18763T>A (n.485+18763T>A)
c.1138A>T (p.Lys380Ter)
c.1453A>T (p.Lys485Ter)
c.1408A>T (p.Lys470Ter)
c.1315A>T (p.Lys439Ter)
 ClinVar dbSNP gnomAD v4
9g.36222942T>CCA373426752CLTA,GNEc.1561A>G (p.Lys521Glu)
c.1291A>G (p.Lys431Glu)
c.1468A>G (p.Lys490Glu)
c.1411+431A>G (n.1411+431A>G)
c.485+18763T>C (n.485+18763T>C)
c.1138A>G (p.Lys380Glu)
c.1453A>G (p.Lys485Glu)
c.1408A>G (p.Lys470Glu)
c.1315A>G (p.Lys439Glu)
9g.36222942T>GCA373426753CLTA,GNEc.1561A>C (p.Lys521Gln)
c.1291A>C (p.Lys431Gln)
c.1468A>C (p.Lys490Gln)
c.1411+431A>C (n.1411+431A>C)
c.485+18763T>G (n.485+18763T>G)
c.1138A>C (p.Lys380Gln)
c.1453A>C (p.Lys485Gln)
c.1408A>C (p.Lys470Gln)
c.1315A>C (p.Lys439Gln)
9g.36222942T=CA1846333719CLTA,GNEc.1561A= (p.Lys521=)
c.1291A= (p.Lys431=)
c.1468A= (p.Lys490=)
c.1411+431A= (n.1411+431A=)
c.485+18763T= (n.485+18763T=)
c.1138A= (p.Lys380=)
c.1453A= (p.Lys485=)
c.1408A= (p.Lys470=)
c.1315A= (p.Lys439=)
9g.36222943G>ACA464495252CLTA,GNEc.1560C>T (p.Thr520=)
c.1290C>T (p.Thr430=)
c.1467C>T (p.Thr489=)
c.1411+430C>T (n.1411+430C>T)
c.485+18764G>A (n.485+18764G>A)
c.1137C>T (p.Thr379=)
c.1452C>T (p.Thr484=)
c.1407C>T (p.Thr469=)
c.1314C>T (p.Thr438=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36222943G>CCA464495254CLTA,GNEc.1560C>G (p.Thr520=)
c.1290C>G (p.Thr430=)
c.1467C>G (p.Thr489=)
c.1411+430C>G (n.1411+430C>G)
c.485+18764G>C (n.485+18764G>C)
c.1137C>G (p.Thr379=)
c.1452C>G (p.Thr484=)
c.1407C>G (p.Thr469=)
c.1314C>G (p.Thr438=)
9g.36222943G=CA1846333726CLTA,GNEc.1560C= (p.Thr520=)
c.1290C= (p.Thr430=)
c.1467C= (p.Thr489=)
c.1411+430C= (n.1411+430C=)
c.485+18764G= (n.485+18764G=)
c.1137C= (p.Thr379=)
c.1452C= (p.Thr484=)
c.1407C= (p.Thr469=)
c.1314C= (p.Thr438=)
9g.36222943G>TCA464495253CLTA,GNEc.1560C>A (p.Thr520=)
c.1290C>A (p.Thr430=)
c.1467C>A (p.Thr489=)
c.1411+430C>A (n.1411+430C>A)
c.485+18764G>T (n.485+18764G>T)
c.1137C>A (p.Thr379=)
c.1452C>A (p.Thr484=)
c.1407C>A (p.Thr469=)
c.1314C>A (p.Thr438=)
9g.36222944G>ACA373426760CLTA,GNEc.1559C>T (p.Thr520Ile)
c.1289C>T (p.Thr430Ile)
c.1466C>T (p.Thr489Ile)
c.1411+429C>T (n.1411+429C>T)
c.485+18765G>A (n.485+18765G>A)
c.1136C>T (p.Thr379Ile)
c.1451C>T (p.Thr484Ile)
c.1406C>T (p.Thr469Ile)
c.1313C>T (p.Thr438Ile)
 ClinVar
9g.36222944G>CCA373426758CLTA,GNEc.1559C>G (p.Thr520Ser)
c.1289C>G (p.Thr430Ser)
c.1466C>G (p.Thr489Ser)
c.1411+429C>G (n.1411+429C>G)
c.485+18765G>C (n.485+18765G>C)
c.1136C>G (p.Thr379Ser)
c.1451C>G (p.Thr484Ser)
c.1406C>G (p.Thr469Ser)
c.1313C>G (p.Thr438Ser)
9g.36222944G>TCA373426756CLTA,GNEc.1559C>A (p.Thr520Asn)
c.1289C>A (p.Thr430Asn)
c.1466C>A (p.Thr489Asn)
c.1411+429C>A (n.1411+429C>A)
c.485+18765G>T (n.485+18765G>T)
c.1136C>A (p.Thr379Asn)
c.1451C>A (p.Thr484Asn)
c.1406C>A (p.Thr469Asn)
c.1313C>A (p.Thr438Asn)
9g.36222945T>ACA373426762CLTA,GNEc.1558A>T (p.Thr520Ser)
c.1288A>T (p.Thr430Ser)
c.1465A>T (p.Thr489Ser)
c.1411+428A>T (n.1411+428A>T)
c.485+18766T>A (n.485+18766T>A)
c.1135A>T (p.Thr379Ser)
c.1450A>T (p.Thr484Ser)
c.1405A>T (p.Thr469Ser)
c.1312A>T (p.Thr438Ser)
9g.36222945T>CCA373426761CLTA,GNEc.1558A>G (p.Thr520Ala)
c.1288A>G (p.Thr430Ala)
c.1465A>G (p.Thr489Ala)
c.1411+428A>G (n.1411+428A>G)
c.485+18766T>C (n.485+18766T>C)
c.1135A>G (p.Thr379Ala)
c.1450A>G (p.Thr484Ala)
c.1405A>G (p.Thr469Ala)
c.1312A>G (p.Thr438Ala)
9g.36222945T>GCA373426763CLTA,GNEc.1558A>C (p.Thr520Pro)
c.1288A>C (p.Thr430Pro)
c.1465A>C (p.Thr489Pro)
c.1411+428A>C (n.1411+428A>C)
c.485+18766T>G (n.485+18766T>G)
c.1135A>C (p.Thr379Pro)
c.1450A>C (p.Thr484Pro)
c.1405A>C (p.Thr469Pro)
c.1312A>C (p.Thr438Pro)
9g.36222946T>ACA464495255CLTA,GNEc.1557A>T (p.Ser519=)
c.1287A>T (p.Ser429=)
c.1464A>T (p.Ser488=)
c.1411+427A>T (n.1411+427A>T)
c.485+18767T>A (n.485+18767T>A)
c.1134A>T (p.Ser378=)
c.1449A>T (p.Ser483=)
c.1404A>T (p.Ser468=)
c.1311A>T (p.Ser437=)
9g.36222946T>CCA5056477CLTA,GNEc.1557A>G (p.Ser519=)
c.1287A>G (p.Ser429=)
c.1464A>G (p.Ser488=)
c.1411+427A>G (n.1411+427A>G)
c.485+18767T>C (n.485+18767T>C)
c.1134A>G (p.Ser378=)
c.1449A>G (p.Ser483=)
c.1404A>G (p.Ser468=)
c.1311A>G (p.Ser437=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222946T>GCA464495256CLTA,GNEc.1557A>C (p.Ser519=)
c.1287A>C (p.Ser429=)
c.1464A>C (p.Ser488=)
c.1411+427A>C (n.1411+427A>C)
c.485+18767T>G (n.485+18767T>G)
c.1134A>C (p.Ser378=)
c.1449A>C (p.Ser483=)
c.1404A>C (p.Ser468=)
c.1311A>C (p.Ser437=)
9g.36222946T=CA1846333733CLTA,GNEc.1557A= (p.Ser519=)
c.1287A= (p.Ser429=)
c.1464A= (p.Ser488=)
c.1411+427A= (n.1411+427A=)
c.485+18767T= (n.485+18767T=)
c.1134A= (p.Ser378=)
c.1449A= (p.Ser483=)
c.1404A= (p.Ser468=)
c.1311A= (p.Ser437=)
9g.36222947G>ACA373426765CLTA,GNEc.1556C>T (p.Ser519Leu)
c.1286C>T (p.Ser429Leu)
c.1463C>T (p.Ser488Leu)
c.1411+426C>T (n.1411+426C>T)
c.485+18768G>A (n.485+18768G>A)
c.1133C>T (p.Ser378Leu)
c.1448C>T (p.Ser483Leu)
c.1403C>T (p.Ser468Leu)
c.1310C>T (p.Ser437Leu)
9g.36222947G>CCA373426764CLTA,GNEc.1556C>G (p.Ser519Ter)
c.1286C>G (p.Ser429Ter)
c.1463C>G (p.Ser488Ter)
c.1411+426C>G (n.1411+426C>G)
c.485+18768G>C (n.485+18768G>C)
c.1133C>G (p.Ser378Ter)
c.1448C>G (p.Ser483Ter)
c.1403C>G (p.Ser468Ter)
c.1310C>G (p.Ser437Ter)
9g.36222947G>TCA373426766CLTA,GNEc.1556C>A (p.Ser519Ter)
c.1286C>A (p.Ser429Ter)
c.1463C>A (p.Ser488Ter)
c.1411+426C>A (n.1411+426C>A)
c.485+18768G>T (n.485+18768G>T)
c.1133C>A (p.Ser378Ter)
c.1448C>A (p.Ser483Ter)
c.1403C>A (p.Ser468Ter)
c.1310C>A (p.Ser437Ter)
9g.36222948A>CCA373426767CLTA,GNEc.1555T>G (p.Ser519Ala)
c.1285T>G (p.Ser429Ala)
c.1462T>G (p.Ser488Ala)
c.1411+425T>G (n.1411+425T>G)
c.485+18769A>C (n.485+18769A>C)
c.1132T>G (p.Ser378Ala)
c.1447T>G (p.Ser483Ala)
c.1402T>G (p.Ser468Ala)
c.1309T>G (p.Ser437Ala)
 gnomAD v4
9g.36222948A>GCA373426768CLTA,GNEc.1555T>C (p.Ser519Pro)
c.1285T>C (p.Ser429Pro)
c.1462T>C (p.Ser488Pro)
c.1411+425T>C (n.1411+425T>C)
c.485+18769A>G (n.485+18769A>G)
c.1132T>C (p.Ser378Pro)
c.1447T>C (p.Ser483Pro)
c.1402T>C (p.Ser468Pro)
c.1309T>C (p.Ser437Pro)
9g.36222948A>TCA373426769CLTA,GNEc.1555T>A (p.Ser519Thr)
c.1285T>A (p.Ser429Thr)
c.1462T>A (p.Ser488Thr)
c.1411+425T>A (n.1411+425T>A)
c.485+18769A>T (n.485+18769A>T)
c.1132T>A (p.Ser378Thr)
c.1447T>A (p.Ser483Thr)
c.1402T>A (p.Ser468Thr)
c.1309T>A (p.Ser437Thr)
9g.36222949A>CCA373426770CLTA,GNEc.1554T>G (p.His518Gln)
c.1284T>G (p.His428Gln)
c.1461T>G (p.His487Gln)
c.1411+424T>G (n.1411+424T>G)
c.485+18770A>C (n.485+18770A>C)
c.1131T>G (p.His377Gln)
c.1446T>G (p.His482Gln)
c.1401T>G (p.His467Gln)
c.1308T>G (p.His436Gln)
9g.36222949A>GCA464495257CLTA,GNEc.1554T>C (p.His518=)
c.1284T>C (p.His428=)
c.1461T>C (p.His487=)
c.1411+424T>C (n.1411+424T>C)
c.485+18770A>G (n.485+18770A>G)
c.1131T>C (p.His377=)
c.1446T>C (p.His482=)
c.1401T>C (p.His467=)
c.1308T>C (p.His436=)
 ClinVar
9g.36222949A>TCA373426771CLTA,GNEc.1554T>A (p.His518Gln)
c.1284T>A (p.His428Gln)
c.1461T>A (p.His487Gln)
c.1411+424T>A (n.1411+424T>A)
c.485+18770A>T (n.485+18770A>T)
c.1131T>A (p.His377Gln)
c.1446T>A (p.His482Gln)
c.1401T>A (p.His467Gln)
c.1308T>A (p.His436Gln)
 gnomAD v4
9g.36222950T>ACA373426772CLTA,GNEc.1553A>T (p.His518Leu)
c.1283A>T (p.His428Leu)
c.1460A>T (p.His487Leu)
c.1411+423A>T (n.1411+423A>T)
c.485+18771T>A (n.485+18771T>A)
c.1130A>T (p.His377Leu)
c.1445A>T (p.His482Leu)
c.1400A>T (p.His467Leu)
c.1307A>T (p.His436Leu)
9g.36222950T>CCA373426773CLTA,GNEc.1553A>G (p.His518Arg)
c.1283A>G (p.His428Arg)
c.1460A>G (p.His487Arg)
c.1411+423A>G (n.1411+423A>G)
c.485+18771T>C (n.485+18771T>C)
c.1130A>G (p.His377Arg)
c.1445A>G (p.His482Arg)
c.1400A>G (p.His467Arg)
c.1307A>G (p.His436Arg)
 ClinVar dbSNP gnomAD v4
9g.36222950T>GCA373426774CLTA,GNEc.1553A>C (p.His518Pro)
c.1283A>C (p.His428Pro)
c.1460A>C (p.His487Pro)
c.1411+423A>C (n.1411+423A>C)
c.485+18771T>G (n.485+18771T>G)
c.1130A>C (p.His377Pro)
c.1445A>C (p.His482Pro)
c.1400A>C (p.His467Pro)
c.1307A>C (p.His436Pro)
 gnomAD v4
9g.36222950T=CA1846333739CLTA,GNEc.1553A= (p.His518=)
c.1283A= (p.His428=)
c.1460A= (p.His487=)
c.1411+423A= (n.1411+423A=)
c.485+18771T= (n.485+18771T=)
c.1130A= (p.His377=)
c.1445A= (p.His482=)
c.1400A= (p.His467=)
c.1307A= (p.His436=)
9g.36222951G>ACA373426775CLTA,GNEc.1552C>T (p.His518Tyr)
c.1282C>T (p.His428Tyr)
c.1459C>T (p.His487Tyr)
c.1411+422C>T (n.1411+422C>T)
c.485+18772G>A (n.485+18772G>A)
c.1129C>T (p.His377Tyr)
c.1444C>T (p.His482Tyr)
c.1399C>T (p.His467Tyr)
c.1306C>T (p.His436Tyr)
 dbSNP gnomAD v3 gnomAD v4
9g.36222951G>CCA373426776CLTA,GNEc.1552C>G (p.His518Asp)
c.1282C>G (p.His428Asp)
c.1459C>G (p.His487Asp)
c.1411+422C>G (n.1411+422C>G)
c.485+18772G>C (n.485+18772G>C)
c.1129C>G (p.His377Asp)
c.1444C>G (p.His482Asp)
c.1399C>G (p.His467Asp)
c.1306C>G (p.His436Asp)
9g.36222951G=CA1846333743CLTA,GNEc.1552C= (p.His518=)
c.1282C= (p.His428=)
c.1459C= (p.His487=)
c.1411+422C= (n.1411+422C=)
c.485+18772G= (n.485+18772G=)
c.1129C= (p.His377=)
c.1444C= (p.His482=)
c.1399C= (p.His467=)
c.1306C= (p.His436=)
9g.36222951G>TCA373426778CLTA,GNEc.1552C>A (p.His518Asn)
c.1282C>A (p.His428Asn)
c.1459C>A (p.His487Asn)
c.1411+422C>A (n.1411+422C>A)
c.485+18772G>T (n.485+18772G>T)
c.1129C>A (p.His377Asn)
c.1444C>A (p.His482Asn)
c.1399C>A (p.His467Asn)
c.1306C>A (p.His436Asn)
9g.36222952C>ACA464495258CLTA,GNEc.1551G>T (p.Leu517=)
c.1281G>T (p.Leu427=)
c.1458G>T (p.Leu486=)
c.1411+421G>T (n.1411+421G>T)
c.485+18773C>A (n.485+18773C>A)
c.1128G>T (p.Leu376=)
c.1443G>T (p.Leu481=)
c.1398G>T (p.Leu466=)
c.1305G>T (p.Leu435=)
9g.36222952C>GCA464495259CLTA,GNEc.1551G>C (p.Leu517=)
c.1281G>C (p.Leu427=)
c.1458G>C (p.Leu486=)
c.1411+421G>C (n.1411+421G>C)
c.485+18773C>G (n.485+18773C>G)
c.1128G>C (p.Leu376=)
c.1443G>C (p.Leu481=)
c.1398G>C (p.Leu466=)
c.1305G>C (p.Leu435=)
9g.36222952C>TCA464495260CLTA,GNEc.1551G>A (p.Leu517=)
c.1281G>A (p.Leu427=)
c.1458G>A (p.Leu486=)
c.1411+421G>A (n.1411+421G>A)
c.485+18773C>T (n.485+18773C>T)
c.1128G>A (p.Leu376=)
c.1443G>A (p.Leu481=)
c.1398G>A (p.Leu466=)
c.1305G>A (p.Leu435=)
9g.36222953A=CA1846333764CLTA,GNEc.1550T= (p.Leu517=)
c.1280T= (p.Leu427=)
c.1457T= (p.Leu486=)
c.1411+420T= (n.1411+420T=)
c.485+18774A= (n.485+18774A=)
c.1127T= (p.Leu376=)
c.1442T= (p.Leu481=)
c.1397T= (p.Leu466=)
c.1304T= (p.Leu435=)
9g.36222953A>CCA373426785CLTA,GNEc.1550T>G (p.Leu517Arg)
c.1280T>G (p.Leu427Arg)
c.1457T>G (p.Leu486Arg)
c.1411+420T>G (n.1411+420T>G)
c.485+18774A>C (n.485+18774A>C)
c.1127T>G (p.Leu376Arg)
c.1442T>G (p.Leu481Arg)
c.1397T>G (p.Leu466Arg)
c.1304T>G (p.Leu435Arg)
 COSMIC COSMIC COSMIC
9g.36222953A>GCA5056478CLTA,GNEc.1550T>C (p.Leu517Pro)
c.1280T>C (p.Leu427Pro)
c.1457T>C (p.Leu486Pro)
c.1411+420T>C (n.1411+420T>C)
c.485+18774A>G (n.485+18774A>G)
c.1127T>C (p.Leu376Pro)
c.1442T>C (p.Leu481Pro)
c.1397T>C (p.Leu466Pro)
c.1304T>C (p.Leu435Pro)
 ClinVar dbSNP ExAC gnomAD v2
9g.36222953A>TCA373426779CLTA,GNEc.1550T>A (p.Leu517Gln)
c.1280T>A (p.Leu427Gln)
c.1457T>A (p.Leu486Gln)
c.1411+420T>A (n.1411+420T>A)
c.485+18774A>T (n.485+18774A>T)
c.1127T>A (p.Leu376Gln)
c.1442T>A (p.Leu481Gln)
c.1397T>A (p.Leu466Gln)
c.1304T>A (p.Leu435Gln)
9g.36222954G>ACA464495261CLTA,GNEc.1549C>T (p.Leu517=)
c.1279C>T (p.Leu427=)
c.1456C>T (p.Leu486=)
c.1411+419C>T (n.1411+419C>T)
c.485+18775G>A (n.485+18775G>A)
c.1126C>T (p.Leu376=)
c.1441C>T (p.Leu481=)
c.1396C>T (p.Leu466=)
c.1303C>T (p.Leu435=)
9g.36222954G>CCA373426786CLTA,GNEc.1549C>G (p.Leu517Val)
c.1279C>G (p.Leu427Val)
c.1456C>G (p.Leu486Val)
c.1411+419C>G (n.1411+419C>G)
c.485+18775G>C (n.485+18775G>C)
c.1126C>G (p.Leu376Val)
c.1441C>G (p.Leu481Val)
c.1396C>G (p.Leu466Val)
c.1303C>G (p.Leu435Val)
9g.36222954G>TCA373426787CLTA,GNEc.1549C>A (p.Leu517Met)
c.1279C>A (p.Leu427Met)
c.1456C>A (p.Leu486Met)
c.1411+419C>A (n.1411+419C>A)
c.485+18775G>T (n.485+18775G>T)
c.1126C>A (p.Leu376Met)
c.1441C>A (p.Leu481Met)
c.1396C>A (p.Leu466Met)
c.1303C>A (p.Leu435Met)
9g.36222955C>ACA464495262CLTA,GNEc.1548G>T (p.Val516=)
c.1278G>T (p.Val426=)
c.1455G>T (p.Val485=)
c.1411+418G>T (n.1411+418G>T)
c.485+18776C>A (n.485+18776C>A)
c.1125G>T (p.Val375=)
c.1440G>T (p.Val480=)
c.1395G>T (p.Val465=)
c.1302G>T (p.Val434=)
9g.36222955C>GCA464495264CLTA,GNEc.1548G>C (p.Val516=)
c.1278G>C (p.Val426=)
c.1455G>C (p.Val485=)
c.1411+418G>C (n.1411+418G>C)
c.485+18776C>G (n.485+18776C>G)
c.1125G>C (p.Val375=)
c.1440G>C (p.Val480=)
c.1395G>C (p.Val465=)
c.1302G>C (p.Val434=)
9g.36222955C>TCA464495263CLTA,GNEc.1548G>A (p.Val516=)
c.1278G>A (p.Val426=)
c.1455G>A (p.Val485=)
c.1411+418G>A (n.1411+418G>A)
c.485+18776C>T (n.485+18776C>T)
c.1125G>A (p.Val375=)
c.1440G>A (p.Val480=)
c.1395G>A (p.Val465=)
c.1302G>A (p.Val434=)
9g.36222956A=CA1846333770CLTA,GNEc.1547T= (p.Val516=)
c.1277T= (p.Val426=)
c.1454T= (p.Val485=)
c.1411+417T= (n.1411+417T=)
c.485+18777A= (n.485+18777A=)
c.1124T= (p.Val375=)
c.1439T= (p.Val480=)
c.1394T= (p.Val465=)
c.1301T= (p.Val434=)
9g.36222956A>CCA373426789CLTA,GNEc.1547T>G (p.Val516Gly)
c.1277T>G (p.Val426Gly)
c.1454T>G (p.Val485Gly)
c.1411+417T>G (n.1411+417T>G)
c.485+18777A>C (n.485+18777A>C)
c.1124T>G (p.Val375Gly)
c.1439T>G (p.Val480Gly)
c.1394T>G (p.Val465Gly)
c.1301T>G (p.Val434Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.36222956A>GCA373426797CLTA,GNEc.1547T>C (p.Val516Ala)
c.1277T>C (p.Val426Ala)
c.1454T>C (p.Val485Ala)
c.1411+417T>C (n.1411+417T>C)
c.485+18777A>G (n.485+18777A>G)
c.1124T>C (p.Val375Ala)
c.1439T>C (p.Val480Ala)
c.1394T>C (p.Val465Ala)
c.1301T>C (p.Val434Ala)
9g.36222956A>TCA373426799CLTA,GNEc.1547T>A (p.Val516Glu)
c.1277T>A (p.Val426Glu)
c.1454T>A (p.Val485Glu)
c.1411+417T>A (n.1411+417T>A)
c.485+18777A>T (n.485+18777A>T)
c.1124T>A (p.Val375Glu)
c.1439T>A (p.Val480Glu)
c.1394T>A (p.Val465Glu)
c.1301T>A (p.Val434Glu)
9g.36222956_36222957delinsCTCA2824998271CLTA,GNEc.1546_1547delinsAG (p.Val516Arg)
c.1276_1277delinsAG (p.Val426Arg)
c.1453_1454delinsAG (p.Val485Arg)
c.1411+416_1411+417delinsAG (n.1411+416_1411+417delinsAG)
c.485+18777_485+18778delinsCT (n.485+18777_485+18778delinsCT)
c.1123_1124delinsAG (p.Val375Arg)
c.1438_1439delinsAG (p.Val480Arg)
c.1393_1394delinsAG (p.Val465Arg)
c.1300_1301delinsAG (p.Val434Arg)
9g.36222957C>ACA373426801CLTA,GNEc.1546G>T (p.Val516Leu)
c.1276G>T (p.Val426Leu)
c.1453G>T (p.Val485Leu)
c.1411+416G>T (n.1411+416G>T)
c.485+18778C>A (n.485+18778C>A)
c.1123G>T (p.Val375Leu)
c.1438G>T (p.Val480Leu)
c.1393G>T (p.Val465Leu)
c.1300G>T (p.Val434Leu)
9g.36222957C=CA1846333773CLTA,GNEc.1546G= (p.Val516=)
c.1276G= (p.Val426=)
c.1453G= (p.Val485=)
c.1411+416G= (n.1411+416G=)
c.485+18778C= (n.485+18778C=)
c.1123G= (p.Val375=)
c.1438G= (p.Val480=)
c.1393G= (p.Val465=)
c.1300G= (p.Val434=)
9g.36222957C>GCA373426802CLTA,GNEc.1546G>C (p.Val516Leu)
c.1276G>C (p.Val426Leu)
c.1453G>C (p.Val485Leu)
c.1411+416G>C (n.1411+416G>C)
c.485+18778C>G (n.485+18778C>G)
c.1123G>C (p.Val375Leu)
c.1438G>C (p.Val480Leu)
c.1393G>C (p.Val465Leu)
c.1300G>C (p.Val434Leu)
9g.36222957C>TCA373426805CLTA,GNEc.1546G>A (p.Val516Met)
c.1276G>A (p.Val426Met)
c.1453G>A (p.Val485Met)
c.1411+416G>A (n.1411+416G>A)
c.485+18778C>T (n.485+18778C>T)
c.1123G>A (p.Val375Met)
c.1438G>A (p.Val480Met)
c.1393G>A (p.Val465Met)
c.1300G>A (p.Val434Met)
 dbSNP gnomAD v3 gnomAD v4
9g.36222958A>CCA373426806CLTA,GNEc.1545T>G (p.Ile515Met)
c.1275T>G (p.Ile425Met)
c.1452T>G (p.Ile484Met)
c.1411+415T>G (n.1411+415T>G)
c.485+18779A>C (n.485+18779A>C)
c.1122T>G (p.Ile374Met)
c.1437T>G (p.Ile479Met)
c.1392T>G (p.Ile464Met)
c.1299T>G (p.Ile433Met)
9g.36222958A>GCA464495265CLTA,GNEc.1545T>C (p.Ile515=)
c.1275T>C (p.Ile425=)
c.1452T>C (p.Ile484=)
c.1411+415T>C (n.1411+415T>C)
c.485+18779A>G (n.485+18779A>G)
c.1122T>C (p.Ile374=)
c.1437T>C (p.Ile479=)
c.1392T>C (p.Ile464=)
c.1299T>C (p.Ile433=)
9g.36222958A>TCA464495266CLTA,GNEc.1545T>A (p.Ile515=)
c.1275T>A (p.Ile425=)
c.1452T>A (p.Ile484=)
c.1411+415T>A (n.1411+415T>A)
c.485+18779A>T (n.485+18779A>T)
c.1122T>A (p.Ile374=)
c.1437T>A (p.Ile479=)
c.1392T>A (p.Ile464=)
c.1299T>A (p.Ile433=)
9g.36222959A>CCA373426808CLTA,GNEc.1544T>G (p.Ile515Ser)
c.1274T>G (p.Ile425Ser)
c.1451T>G (p.Ile484Ser)
c.1411+414T>G (n.1411+414T>G)
c.485+18780A>C (n.485+18780A>C)
c.1121T>G (p.Ile374Ser)
c.1436T>G (p.Ile479Ser)
c.1391T>G (p.Ile464Ser)
c.1298T>G (p.Ile433Ser)
9g.36222959A>GCA373426816CLTA,GNEc.1544T>C (p.Ile515Thr)
c.1274T>C (p.Ile425Thr)
c.1451T>C (p.Ile484Thr)
c.1411+414T>C (n.1411+414T>C)
c.485+18780A>G (n.485+18780A>G)
c.1121T>C (p.Ile374Thr)
c.1436T>C (p.Ile479Thr)
c.1391T>C (p.Ile464Thr)
c.1298T>C (p.Ile433Thr)
 gnomAD v4
9g.36222959A>TCA373426820CLTA,GNEc.1544T>A (p.Ile515Asn)
c.1274T>A (p.Ile425Asn)
c.1451T>A (p.Ile484Asn)
c.1411+414T>A (n.1411+414T>A)
c.485+18780A>T (n.485+18780A>T)
c.1121T>A (p.Ile374Asn)
c.1436T>A (p.Ile479Asn)
c.1391T>A (p.Ile464Asn)
c.1298T>A (p.Ile433Asn)
9g.36222960T>ACA373426827CLTA,GNEc.1543A>T (p.Ile515Phe)
c.1273A>T (p.Ile425Phe)
c.1450A>T (p.Ile484Phe)
c.1411+413A>T (n.1411+413A>T)
c.485+18781T>A (n.485+18781T>A)
c.1120A>T (p.Ile374Phe)
c.1435A>T (p.Ile479Phe)
c.1390A>T (p.Ile464Phe)
c.1297A>T (p.Ile433Phe)
9g.36222960T>CCA373426824CLTA,GNEc.1543A>G (p.Ile515Val)
c.1273A>G (p.Ile425Val)
c.1450A>G (p.Ile484Val)
c.1411+413A>G (n.1411+413A>G)
c.485+18781T>C (n.485+18781T>C)
c.1120A>G (p.Ile374Val)
c.1435A>G (p.Ile479Val)
c.1390A>G (p.Ile464Val)
c.1297A>G (p.Ile433Val)
 gnomAD v3 gnomAD v4
9g.36222960T>GCA373426822CLTA,GNEc.1543A>C (p.Ile515Leu)
c.1273A>C (p.Ile425Leu)
c.1450A>C (p.Ile484Leu)
c.1411+413A>C (n.1411+413A>C)
c.485+18781T>G (n.485+18781T>G)
c.1120A>C (p.Ile374Leu)
c.1435A>C (p.Ile479Leu)
c.1390A>C (p.Ile464Leu)
c.1297A>C (p.Ile433Leu)
9g.36222961T>ACA464495267CLTA,GNEc.1542A>T (p.Gly514=)
c.1272A>T (p.Gly424=)
c.1449A>T (p.Gly483=)
c.1411+412A>T (n.1411+412A>T)
c.485+18782T>A (n.485+18782T>A)
c.1119A>T (p.Gly373=)
c.1434A>T (p.Gly478=)
c.1389A>T (p.Gly463=)
c.1296A>T (p.Gly432=)
9g.36222961T>CCA464495268CLTA,GNEc.1542A>G (p.Gly514=)
c.1272A>G (p.Gly424=)
c.1449A>G (p.Gly483=)
c.1411+412A>G (n.1411+412A>G)
c.485+18782T>C (n.485+18782T>C)
c.1119A>G (p.Gly373=)
c.1434A>G (p.Gly478=)
c.1389A>G (p.Gly463=)
c.1296A>G (p.Gly432=)
9g.36222961T>GCA464495269CLTA,GNEc.1542A>C (p.Gly514=)
c.1272A>C (p.Gly424=)
c.1449A>C (p.Gly483=)
c.1411+412A>C (n.1411+412A>C)
c.485+18782T>G (n.485+18782T>G)
c.1119A>C (p.Gly373=)
c.1434A>C (p.Gly478=)
c.1389A>C (p.Gly463=)
c.1296A>C (p.Gly432=)
9g.36222962C>ACA373426829CLTA,GNEc.1541G>T (p.Gly514Val)
c.1271G>T (p.Gly424Val)
c.1448G>T (p.Gly483Val)
c.1411+411G>T (n.1411+411G>T)
c.485+18783C>A (n.485+18783C>A)
c.1118G>T (p.Gly373Val)
c.1433G>T (p.Gly478Val)
c.1388G>T (p.Gly463Val)
c.1295G>T (p.Gly432Val)
9g.36222962C>GCA373426831CLTA,GNEc.1541G>C (p.Gly514Ala)
c.1271G>C (p.Gly424Ala)
c.1448G>C (p.Gly483Ala)
c.1411+411G>C (n.1411+411G>C)
c.485+18783C>G (n.485+18783C>G)
c.1118G>C (p.Gly373Ala)
c.1433G>C (p.Gly478Ala)
c.1388G>C (p.Gly463Ala)
c.1295G>C (p.Gly432Ala)
9g.36222962C>TCA373426833CLTA,GNEc.1541G>A (p.Gly514Glu)
c.1271G>A (p.Gly424Glu)
c.1448G>A (p.Gly483Glu)
c.1411+411G>A (n.1411+411G>A)
c.485+18783C>T (n.485+18783C>T)
c.1118G>A (p.Gly373Glu)
c.1433G>A (p.Gly478Glu)
c.1388G>A (p.Gly463Glu)
c.1295G>A (p.Gly432Glu)
 COSMIC COSMIC COSMIC
9g.36222963C>ACA373426834CLTA,GNEc.1540G>T (p.Gly514Ter)
c.1270G>T (p.Gly424Ter)
c.1447G>T (p.Gly483Ter)
c.1411+410G>T (n.1411+410G>T)
c.485+18784C>A (n.485+18784C>A)
c.1117G>T (p.Gly373Ter)
c.1432G>T (p.Gly478Ter)
c.1387G>T (p.Gly463Ter)
c.1294G>T (p.Gly432Ter)
9g.36222963C>GCA373426838CLTA,GNEc.1540G>C (p.Gly514Arg)
c.1270G>C (p.Gly424Arg)
c.1447G>C (p.Gly483Arg)
c.1411+410G>C (n.1411+410G>C)
c.485+18784C>G (n.485+18784C>G)
c.1117G>C (p.Gly373Arg)
c.1432G>C (p.Gly478Arg)
c.1387G>C (p.Gly463Arg)
c.1294G>C (p.Gly432Arg)
9g.36222963C>TCA373426841CLTA,GNEc.1540G>A (p.Gly514Arg)
c.1270G>A (p.Gly424Arg)
c.1447G>A (p.Gly483Arg)
c.1411+410G>A (n.1411+410G>A)
c.485+18784C>T (n.485+18784C>T)
c.1117G>A (p.Gly373Arg)
c.1432G>A (p.Gly478Arg)
c.1387G>A (p.Gly463Arg)
c.1294G>A (p.Gly432Arg)
 ClinVar dbSNP
9g.36222964T>ACA373426844CLTA,GNEc.1539A>T (p.Glu513Asp)
c.1269A>T (p.Glu423Asp)
c.1446A>T (p.Glu482Asp)
c.1411+409A>T (n.1411+409A>T)
c.485+18785T>A (n.485+18785T>A)
c.1116A>T (p.Glu372Asp)
c.1431A>T (p.Glu477Asp)
c.1386A>T (p.Glu462Asp)
c.1293A>T (p.Glu431Asp)
9g.36222964T>CCA464495270CLTA,GNEc.1539A>G (p.Glu513=)
c.1269A>G (p.Glu423=)
c.1446A>G (p.Glu482=)
c.1411+409A>G (n.1411+409A>G)
c.485+18785T>C (n.485+18785T>C)
c.1116A>G (p.Glu372=)
c.1431A>G (p.Glu477=)
c.1386A>G (p.Glu462=)
c.1293A>G (p.Glu431=)
9g.36222964T>GCA373426842CLTA,GNEc.1539A>C (p.Glu513Asp)
c.1269A>C (p.Glu423Asp)
c.1446A>C (p.Glu482Asp)
c.1411+409A>C (n.1411+409A>C)
c.485+18785T>G (n.485+18785T>G)
c.1116A>C (p.Glu372Asp)
c.1431A>C (p.Glu477Asp)
c.1386A>C (p.Glu462Asp)
c.1293A>C (p.Glu431Asp)
9g.36222965T>ACA373426847CLTA,GNEc.1538A>T (p.Glu513Val)
c.1268A>T (p.Glu423Val)
c.1445A>T (p.Glu482Val)
c.1411+408A>T (n.1411+408A>T)
c.485+18786T>A (n.485+18786T>A)
c.1115A>T (p.Glu372Val)
c.1430A>T (p.Glu477Val)
c.1385A>T (p.Glu462Val)
c.1292A>T (p.Glu431Val)
 gnomAD v4
9g.36222965T>CCA373426850CLTA,GNEc.1538A>G (p.Glu513Gly)
c.1268A>G (p.Glu423Gly)
c.1445A>G (p.Glu482Gly)
c.1411+408A>G (n.1411+408A>G)
c.485+18786T>C (n.485+18786T>C)
c.1115A>G (p.Glu372Gly)
c.1430A>G (p.Glu477Gly)
c.1385A>G (p.Glu462Gly)
c.1292A>G (p.Glu431Gly)
9g.36222965T>GCA373426852CLTA,GNEc.1538A>C (p.Glu513Ala)
c.1268A>C (p.Glu423Ala)
c.1445A>C (p.Glu482Ala)
c.1411+408A>C (n.1411+408A>C)
c.485+18786T>G (n.485+18786T>G)
c.1115A>C (p.Glu372Ala)
c.1430A>C (p.Glu477Ala)
c.1385A>C (p.Glu462Ala)
c.1292A>C (p.Glu431Ala)
9g.36222966C>ACA373426854CLTA,GNEc.1537G>T (p.Glu513Ter)
c.1267G>T (p.Glu423Ter)
c.1444G>T (p.Glu482Ter)
c.1411+407G>T (n.1411+407G>T)
c.485+18787C>A (n.485+18787C>A)
c.1114G>T (p.Glu372Ter)
c.1429G>T (p.Glu477Ter)
c.1384G>T (p.Glu462Ter)
c.1291G>T (p.Glu431Ter)
9g.36222966C>GCA373426856CLTA,GNEc.1537G>C (p.Glu513Gln)
c.1267G>C (p.Glu423Gln)
c.1444G>C (p.Glu482Gln)
c.1411+407G>C (n.1411+407G>C)
c.485+18787C>G (n.485+18787C>G)
c.1114G>C (p.Glu372Gln)
c.1429G>C (p.Glu477Gln)
c.1384G>C (p.Glu462Gln)
c.1291G>C (p.Glu431Gln)
9g.36222966C>TCA373426857CLTA,GNEc.1537G>A (p.Glu513Lys)
c.1267G>A (p.Glu423Lys)
c.1444G>A (p.Glu482Lys)
c.1411+407G>A (n.1411+407G>A)
c.485+18787C>T (n.485+18787C>T)
c.1114G>A (p.Glu372Lys)
c.1429G>A (p.Glu477Lys)
c.1384G>A (p.Glu462Lys)
c.1291G>A (p.Glu431Lys)
9g.36222967C>ACA464495271CLTA,GNEc.1536G>T (p.Arg512=)
c.1266G>T (p.Arg422=)
c.1443G>T (p.Arg481=)
c.1411+406G>T (n.1411+406G>T)
c.485+18788C>A (n.485+18788C>A)
c.1113G>T (p.Arg371=)
c.1428G>T (p.Arg476=)
c.1383G>T (p.Arg461=)
c.1290G>T (p.Arg430=)
9g.36222967C=CA1846333776CLTA,GNEc.1536G= (p.Arg512=)
c.1266G= (p.Arg422=)
c.1443G= (p.Arg481=)
c.1411+406G= (n.1411+406G=)
c.485+18788C= (n.485+18788C=)
c.1113G= (p.Arg371=)
c.1428G= (p.Arg476=)
c.1383G= (p.Arg461=)
c.1290G= (p.Arg430=)
9g.36222967C>GCA464495273CLTA,GNEc.1536G>C (p.Arg512=)
c.1266G>C (p.Arg422=)
c.1443G>C (p.Arg481=)
c.1411+406G>C (n.1411+406G>C)
c.485+18788C>G (n.485+18788C>G)
c.1113G>C (p.Arg371=)
c.1428G>C (p.Arg476=)
c.1383G>C (p.Arg461=)
c.1290G>C (p.Arg430=)
 dbSNP gnomAD v3 gnomAD v4
9g.36222967C>TCA464495272CLTA,GNEc.1536G>A (p.Arg512=)
c.1266G>A (p.Arg422=)
c.1443G>A (p.Arg481=)
c.1411+406G>A (n.1411+406G>A)
c.485+18788C>T (n.485+18788C>T)
c.1113G>A (p.Arg371=)
c.1428G>A (p.Arg476=)
c.1383G>A (p.Arg461=)
c.1290G>A (p.Arg430=)
9g.36222968C>ACA373426859CLTA,GNEc.1535G>T (p.Arg512Leu)
c.1265G>T (p.Arg422Leu)
c.1442G>T (p.Arg481Leu)
c.1411+405G>T (n.1411+405G>T)
c.485+18789C>A (n.485+18789C>A)
c.1112G>T (p.Arg371Leu)
c.1427G>T (p.Arg476Leu)
c.1382G>T (p.Arg461Leu)
c.1289G>T (p.Arg430Leu)
9g.36222968C=CA1846333784CLTA,GNEc.1535G= (p.Arg512=)
c.1265G= (p.Arg422=)
c.1442G= (p.Arg481=)
c.1411+405G= (n.1411+405G=)
c.485+18789C= (n.485+18789C=)
c.1112G= (p.Arg371=)
c.1427G= (p.Arg476=)
c.1382G= (p.Arg461=)
c.1289G= (p.Arg430=)
9g.36222968C>GCA373426861CLTA,GNEc.1535G>C (p.Arg512Pro)
c.1265G>C (p.Arg422Pro)
c.1442G>C (p.Arg481Pro)
c.1411+405G>C (n.1411+405G>C)
c.485+18789C>G (n.485+18789C>G)
c.1112G>C (p.Arg371Pro)
c.1427G>C (p.Arg476Pro)
c.1382G>C (p.Arg461Pro)
c.1289G>C (p.Arg430Pro)
9g.36222968C>TCA5056479CLTA,GNEc.1535G>A (p.Arg512Gln)
c.1265G>A (p.Arg422Gln)
c.1442G>A (p.Arg481Gln)
c.1411+405G>A (n.1411+405G>A)
c.485+18789C>T (n.485+18789C>T)
c.1112G>A (p.Arg371Gln)
c.1427G>A (p.Arg476Gln)
c.1382G>A (p.Arg461Gln)
c.1289G>A (p.Arg430Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222969G>ACA5056480CLTA,GNEc.1534C>T (p.Arg512Trp)
c.1264C>T (p.Arg422Trp)
c.1441C>T (p.Arg481Trp)
c.1411+404C>T (n.1411+404C>T)
c.485+18790G>A (n.485+18790G>A)
c.1111C>T (p.Arg371Trp)
c.1426C>T (p.Arg476Trp)
c.1381C>T (p.Arg461Trp)
c.1288C>T (p.Arg430Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.36222969G>CCA373426864CLTA,GNEc.1534C>G (p.Arg512Gly)
c.1264C>G (p.Arg422Gly)
c.1441C>G (p.Arg481Gly)
c.1411+404C>G (n.1411+404C>G)
c.485+18790G>C (n.485+18790G>C)
c.1111C>G (p.Arg371Gly)
c.1426C>G (p.Arg476Gly)
c.1381C>G (p.Arg461Gly)
c.1288C>G (p.Arg430Gly)
 dbSNP
9g.36222969G=CA1846333795CLTA,GNEc.1534C= (p.Arg512=)
c.1264C= (p.Arg422=)
c.1441C= (p.Arg481=)
c.1411+404C= (n.1411+404C=)
c.485+18790G= (n.485+18790G=)
c.1111C= (p.Arg371=)
c.1426C= (p.Arg476=)
c.1381C= (p.Arg461=)
c.1288C= (p.Arg430=)
9g.36222969G>TCA464495274CLTA,GNEc.1534C>A (p.Arg512=)
c.1264C>A (p.Arg422=)
c.1441C>A (p.Arg481=)
c.1411+404C>A (n.1411+404C>A)
c.485+18790G>T (n.485+18790G>T)
c.1111C>A (p.Arg371=)
c.1426C>A (p.Arg476=)
c.1381C>A (p.Arg461=)
c.1288C>A (p.Arg430=)
 dbSNP gnomAD v2 gnomAD v4
9g.36222970A>CCA464495275CLTA,GNEc.1533T>G (p.Pro511=)
c.1263T>G (p.Pro421=)
c.1440T>G (p.Pro480=)
c.1411+403T>G (n.1411+403T>G)
c.485+18791A>C (n.485+18791A>C)
c.1110T>G (p.Pro370=)
c.1425T>G (p.Pro475=)
c.1380T>G (p.Pro460=)
c.1287T>G (p.Pro429=)
9g.36222970A>GCA464495276CLTA,GNEc.1533T>C (p.Pro511=)
c.1263T>C (p.Pro421=)
c.1440T>C (p.Pro480=)
c.1411+403T>C (n.1411+403T>C)
c.485+18791A>G (n.485+18791A>G)
c.1110T>C (p.Pro370=)
c.1425T>C (p.Pro475=)
c.1380T>C (p.Pro460=)
c.1287T>C (p.Pro429=)
9g.36222970A>TCA464495277CLTA,GNEc.1533T>A (p.Pro511=)
c.1263T>A (p.Pro421=)
c.1440T>A (p.Pro480=)
c.1411+403T>A (n.1411+403T>A)
c.485+18791A>T (n.485+18791A>T)
c.1110T>A (p.Pro370=)
c.1425T>A (p.Pro475=)
c.1380T>A (p.Pro460=)
c.1287T>A (p.Pro429=)
9g.36222971G>ACA373426866CLTA,GNEc.1532C>T (p.Pro511Leu)
c.1262C>T (p.Pro421Leu)
c.1439C>T (p.Pro480Leu)
c.1411+402C>T (n.1411+402C>T)
c.485+18792G>A (n.485+18792G>A)
c.1109C>T (p.Pro370Leu)
c.1424C>T (p.Pro475Leu)
c.1379C>T (p.Pro460Leu)
c.1286C>T (p.Pro429Leu)
 gnomAD v4
9g.36222971G>CCA373426868CLTA,GNEc.1532C>G (p.Pro511Arg)
c.1262C>G (p.Pro421Arg)
c.1439C>G (p.Pro480Arg)
c.1411+402C>G (n.1411+402C>G)
c.485+18792G>C (n.485+18792G>C)
c.1109C>G (p.Pro370Arg)
c.1424C>G (p.Pro475Arg)
c.1379C>G (p.Pro460Arg)
c.1286C>G (p.Pro429Arg)
9g.36222971G>TCA373426869CLTA,GNEc.1532C>A (p.Pro511His)
c.1262C>A (p.Pro421His)
c.1439C>A (p.Pro480His)
c.1411+402C>A (n.1411+402C>A)
c.485+18792G>T (n.485+18792G>T)
c.1109C>A (p.Pro370His)
c.1424C>A (p.Pro475His)
c.1379C>A (p.Pro460His)
c.1286C>A (p.Pro429His)
9g.36222972G>ACA373426871CLTA,GNEc.1531C>T (p.Pro511Ser)
c.1261C>T (p.Pro421Ser)
c.1438C>T (p.Pro480Ser)
c.1411+401C>T (n.1411+401C>T)
c.485+18793G>A (n.485+18793G>A)
c.1108C>T (p.Pro370Ser)
c.1423C>T (p.Pro475Ser)
c.1378C>T (p.Pro460Ser)
c.1285C>T (p.Pro429Ser)
9g.36222972G>CCA373426873CLTA,GNEc.1531C>G (p.Pro511Ala)
c.1261C>G (p.Pro421Ala)
c.1438C>G (p.Pro480Ala)
c.1411+401C>G (n.1411+401C>G)
c.485+18793G>C (n.485+18793G>C)
c.1108C>G (p.Pro370Ala)
c.1423C>G (p.Pro475Ala)
c.1378C>G (p.Pro460Ala)
c.1285C>G (p.Pro429Ala)
9g.36222972G>TCA373426878CLTA,GNEc.1531C>A (p.Pro511Thr)
c.1261C>A (p.Pro421Thr)
c.1438C>A (p.Pro480Thr)
c.1411+401C>A (n.1411+401C>A)
c.485+18793G>T (n.485+18793G>T)
c.1108C>A (p.Pro370Thr)
c.1423C>A (p.Pro475Thr)
c.1378C>A (p.Pro460Thr)
c.1285C>A (p.Pro429Thr)
9g.36222973A>CCA373426879CLTA,GNEc.1530T>G (p.Asn510Lys)
c.1260T>G (p.Asn420Lys)
c.1437T>G (p.Asn479Lys)
c.1411+400T>G (n.1411+400T>G)
c.485+18794A>C (n.485+18794A>C)
c.1107T>G (p.Asn369Lys)
c.1422T>G (p.Asn474Lys)
c.1377T>G (p.Asn459Lys)
c.1284T>G (p.Asn428Lys)
9g.36222973A>GCA464495278CLTA,GNEc.1530T>C (p.Asn510=)
c.1260T>C (p.Asn420=)
c.1437T>C (p.Asn479=)
c.1411+400T>C (n.1411+400T>C)
c.485+18794A>G (n.485+18794A>G)
c.1107T>C (p.Asn369=)
c.1422T>C (p.Asn474=)
c.1377T>C (p.Asn459=)
c.1284T>C (p.Asn428=)
9g.36222973A>TCA373426883CLTA,GNEc.1530T>A (p.Asn510Lys)
c.1260T>A (p.Asn420Lys)
c.1437T>A (p.Asn479Lys)
c.1411+400T>A (n.1411+400T>A)
c.485+18794A>T (n.485+18794A>T)
c.1107T>A (p.Asn369Lys)
c.1422T>A (p.Asn474Lys)
c.1377T>A (p.Asn459Lys)
c.1284T>A (p.Asn428Lys)
9g.36222974T>ACA373426891CLTA,GNEc.1529A>T (p.Asn510Ile)
c.1259A>T (p.Asn420Ile)
c.1436A>T (p.Asn479Ile)
c.1411+399A>T (n.1411+399A>T)
c.485+18795T>A (n.485+18795T>A)
c.1106A>T (p.Asn369Ile)
c.1421A>T (p.Asn474Ile)
c.1376A>T (p.Asn459Ile)
c.1283A>T (p.Asn428Ile)
9g.36222974T>CCA192843649CLTA,GNEc.1529A>G (p.Asn510Ser)
c.1259A>G (p.Asn420Ser)
c.1436A>G (p.Asn479Ser)
c.1411+399A>G (n.1411+399A>G)
c.485+18795T>C (n.485+18795T>C)
c.1106A>G (p.Asn369Ser)
c.1421A>G (p.Asn474Ser)
c.1376A>G (p.Asn459Ser)
c.1283A>G (p.Asn428Ser)
 dbSNP
9g.36222974T>GCA373426886CLTA,GNEc.1529A>C (p.Asn510Thr)
c.1259A>C (p.Asn420Thr)
c.1436A>C (p.Asn479Thr)
c.1411+399A>C (n.1411+399A>C)
c.485+18795T>G (n.485+18795T>G)
c.1106A>C (p.Asn369Thr)
c.1421A>C (p.Asn474Thr)
c.1376A>C (p.Asn459Thr)
c.1283A>C (p.Asn428Thr)
9g.36222974T=CA1846333806CLTA,GNEc.1529A= (p.Asn510=)
c.1259A= (p.Asn420=)
c.1436A= (p.Asn479=)
c.1411+399A= (n.1411+399A=)
c.485+18795T= (n.485+18795T=)
c.1106A= (p.Asn369=)
c.1421A= (p.Asn474=)
c.1376A= (p.Asn459=)
c.1283A= (p.Asn428=)
9g.36222975T>ACA373426895CLTA,GNEc.1528A>T (p.Asn510Tyr)
c.1258A>T (p.Asn420Tyr)
c.1435A>T (p.Asn479Tyr)
c.1411+398A>T (n.1411+398A>T)
c.485+18796T>A (n.485+18796T>A)
c.1105A>T (p.Asn369Tyr)
c.1420A>T (p.Asn474Tyr)
c.1375A>T (p.Asn459Tyr)
c.1282A>T (p.Asn428Tyr)
9g.36222975T>CCA373426897CLTA,GNEc.1528A>G (p.Asn510Asp)
c.1258A>G (p.Asn420Asp)
c.1435A>G (p.Asn479Asp)
c.1411+398A>G (n.1411+398A>G)
c.485+18796T>C (n.485+18796T>C)
c.1105A>G (p.Asn369Asp)
c.1420A>G (p.Asn474Asp)
c.1375A>G (p.Asn459Asp)
c.1282A>G (p.Asn428Asp)
9g.36222975T>GCA373426902CLTA,GNEc.1528A>C (p.Asn510His)
c.1258A>C (p.Asn420His)
c.1435A>C (p.Asn479His)
c.1411+398A>C (n.1411+398A>C)
c.485+18796T>G (n.485+18796T>G)
c.1105A>C (p.Asn369His)
c.1420A>C (p.Asn474His)
c.1375A>C (p.Asn459His)
c.1282A>C (p.Asn428His)
9g.36222976T>ACA464495279CLTA,GNEc.1527A>T (p.Val509=)
c.1257A>T (p.Val419=)
c.1434A>T (p.Val478=)
c.1411+397A>T (n.1411+397A>T)
c.485+18797T>A (n.485+18797T>A)
c.1104A>T (p.Val368=)
c.1419A>T (p.Val473=)
c.1374A>T (p.Val458=)
c.1281A>T (p.Val427=)
9g.36222976T>CCA464495280CLTA,GNEc.1527A>G (p.Val509=)
c.1257A>G (p.Val419=)
c.1434A>G (p.Val478=)
c.1411+397A>G (n.1411+397A>G)
c.485+18797T>C (n.485+18797T>C)
c.1104A>G (p.Val368=)
c.1419A>G (p.Val473=)
c.1374A>G (p.Val458=)
c.1281A>G (p.Val427=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.36222976T>GCA464495281CLTA,GNEc.1527A>C (p.Val509=)
c.1257A>C (p.Val419=)
c.1434A>C (p.Val478=)
c.1411+397A>C (n.1411+397A>C)
c.485+18797T>G (n.485+18797T>G)
c.1104A>C (p.Val368=)
c.1419A>C (p.Val473=)
c.1374A>C (p.Val458=)
c.1281A>C (p.Val427=)
9g.36222976T=CA1846333813CLTA,GNEc.1527A= (p.Val509=)
c.1257A= (p.Val419=)
c.1434A= (p.Val478=)
c.1411+397A= (n.1411+397A=)
c.485+18797T= (n.485+18797T=)
c.1104A= (p.Val368=)
c.1419A= (p.Val473=)
c.1374A= (p.Val458=)
c.1281A= (p.Val427=)
9g.36222977A>CCA373426909CLTA,GNEc.1526T>G (p.Val509Gly)
c.1256T>G (p.Val419Gly)
c.1433T>G (p.Val478Gly)
c.1411+396T>G (n.1411+396T>G)
c.485+18798A>C (n.485+18798A>C)
c.1103T>G (p.Val368Gly)
c.1418T>G (p.Val473Gly)
c.1373T>G (p.Val458Gly)
c.1280T>G (p.Val427Gly)
9g.36222977A>GCA373426910CLTA,GNEc.1526T>C (p.Val509Ala)
c.1256T>C (p.Val419Ala)
c.1433T>C (p.Val478Ala)
c.1411+396T>C (n.1411+396T>C)
c.485+18798A>G (n.485+18798A>G)
c.1103T>C (p.Val368Ala)
c.1418T>C (p.Val473Ala)
c.1373T>C (p.Val458Ala)
c.1280T>C (p.Val427Ala)
9g.36222977A>TCA373426911CLTA,GNEc.1526T>A (p.Val509Glu)
c.1256T>A (p.Val419Glu)
c.1433T>A (p.Val478Glu)
c.1411+396T>A (n.1411+396T>A)
c.485+18798A>T (n.485+18798A>T)
c.1103T>A (p.Val368Glu)
c.1418T>A (p.Val473Glu)
c.1373T>A (p.Val458Glu)
c.1280T>A (p.Val427Glu)
9g.36222978C>ACA373426915CLTA,GNEc.1525G>T (p.Val509Leu)
c.1255G>T (p.Val419Leu)
c.1432G>T (p.Val478Leu)
c.1411+395G>T (n.1411+395G>T)
c.485+18799C>A (n.485+18799C>A)
c.1102G>T (p.Val368Leu)
c.1417G>T (p.Val473Leu)
c.1372G>T (p.Val458Leu)
c.1279G>T (p.Val427Leu)
9g.36222978C>GCA373426913CLTA,GNEc.1525G>C (p.Val509Leu)
c.1255G>C (p.Val419Leu)
c.1432G>C (p.Val478Leu)
c.1411+395G>C (n.1411+395G>C)
c.485+18799C>G (n.485+18799C>G)
c.1102G>C (p.Val368Leu)
c.1417G>C (p.Val473Leu)
c.1372G>C (p.Val458Leu)
c.1279G>C (p.Val427Leu)
9g.36222978C>TCA373426912CLTA,GNEc.1525G>A (p.Val509Ile)
c.1255G>A (p.Val419Ile)
c.1432G>A (p.Val478Ile)
c.1411+395G>A (n.1411+395G>A)
c.485+18799C>T (n.485+18799C>T)
c.1102G>A (p.Val368Ile)
c.1417G>A (p.Val473Ile)
c.1372G>A (p.Val458Ile)
c.1279G>A (p.Val427Ile)
9g.36222979A>CCA464495282CLTA,GNEc.1524T>G (p.Arg508=)
c.1254T>G (p.Arg418=)
c.1431T>G (p.Arg477=)
c.1411+394T>G (n.1411+394T>G)
c.485+18800A>C (n.485+18800A>C)
c.1101T>G (p.Arg367=)
c.1416T>G (p.Arg472=)
c.1371T>G (p.Arg457=)
c.1278T>G (p.Arg426=)
9g.36222979A>GCA464495283CLTA,GNEc.1524T>C (p.Arg508=)
c.1254T>C (p.Arg418=)
c.1431T>C (p.Arg477=)
c.1411+394T>C (n.1411+394T>C)
c.485+18800A>G (n.485+18800A>G)
c.1101T>C (p.Arg367=)
c.1416T>C (p.Arg472=)
c.1371T>C (p.Arg457=)
c.1278T>C (p.Arg426=)
9g.36222979A>TCA464495284CLTA,GNEc.1524T>A (p.Arg508=)
c.1254T>A (p.Arg418=)
c.1431T>A (p.Arg477=)
c.1411+394T>A (n.1411+394T>A)
c.485+18800A>T (n.485+18800A>T)
c.1101T>A (p.Arg367=)
c.1416T>A (p.Arg472=)
c.1371T>A (p.Arg457=)
c.1278T>A (p.Arg426=)
9g.36222980C>ACA373426919CLTA,GNEc.1523G>T (p.Arg508Leu)
c.1253G>T (p.Arg418Leu)
c.1430G>T (p.Arg477Leu)
c.1411+393G>T (n.1411+393G>T)
c.485+18801C>A (n.485+18801C>A)
c.1100G>T (p.Arg367Leu)
c.1415G>T (p.Arg472Leu)
c.1370G>T (p.Arg457Leu)
c.1277G>T (p.Arg426Leu)
9g.36222980C=CA1846333823CLTA,GNEc.1523G= (p.Arg508=)
c.1253G= (p.Arg418=)
c.1430G= (p.Arg477=)
c.1411+393G= (n.1411+393G=)
c.485+18801C= (n.485+18801C=)
c.1100G= (p.Arg367=)
c.1415G= (p.Arg472=)
c.1370G= (p.Arg457=)
c.1277G= (p.Arg426=)
9g.36222980C>GCA373426920CLTA,GNEc.1523G>C (p.Arg508Pro)
c.1253G>C (p.Arg418Pro)
c.1430G>C (p.Arg477Pro)
c.1411+393G>C (n.1411+393G>C)
c.485+18801C>G (n.485+18801C>G)
c.1100G>C (p.Arg367Pro)
c.1415G>C (p.Arg472Pro)
c.1370G>C (p.Arg457Pro)
c.1277G>C (p.Arg426Pro)
 gnomAD v4
9g.36222980C>TCA5056481CLTA,GNEc.1523G>A (p.Arg508His)
c.1253G>A (p.Arg418His)
c.1430G>A (p.Arg477His)
c.1411+393G>A (n.1411+393G>A)
c.485+18801C>T (n.485+18801C>T)
c.1100G>A (p.Arg367His)
c.1415G>A (p.Arg472His)
c.1370G>A (p.Arg457His)
c.1277G>A (p.Arg426His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222981G>ACA5056482CLTA,GNEc.1522C>T (p.Arg508Cys)
c.1252C>T (p.Arg418Cys)
c.1429C>T (p.Arg477Cys)
c.1411+392C>T (n.1411+392C>T)
c.485+18802G>A (n.485+18802G>A)
c.1099C>T (p.Arg367Cys)
c.1414C>T (p.Arg472Cys)
c.1369C>T (p.Arg457Cys)
c.1276C>T (p.Arg426Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
9g.36222981G>CCA373426924CLTA,GNEc.1522C>G (p.Arg508Gly)
c.1252C>G (p.Arg418Gly)
c.1429C>G (p.Arg477Gly)
c.1411+392C>G (n.1411+392C>G)
c.485+18802G>C (n.485+18802G>C)
c.1099C>G (p.Arg367Gly)
c.1414C>G (p.Arg472Gly)
c.1369C>G (p.Arg457Gly)
c.1276C>G (p.Arg426Gly)
9g.36222981G=CA1846333829CLTA,GNEc.1522C= (p.Arg508=)
c.1252C= (p.Arg418=)
c.1429C= (p.Arg477=)
c.1411+392C= (n.1411+392C=)
c.485+18802G= (n.485+18802G=)
c.1099C= (p.Arg367=)
c.1414C= (p.Arg472=)
c.1369C= (p.Arg457=)
c.1276C= (p.Arg426=)
9g.36222981G>TCA373426925CLTA,GNEc.1522C>A (p.Arg508Ser)
c.1252C>A (p.Arg418Ser)
c.1429C>A (p.Arg477Ser)
c.1411+392C>A (n.1411+392C>A)
c.485+18802G>T (n.485+18802G>T)
c.1099C>A (p.Arg367Ser)
c.1414C>A (p.Arg472Ser)
c.1369C>A (p.Arg457Ser)
c.1276C>A (p.Arg426Ser)
9g.36222982G>ACA464495286CLTA,GNEc.1521C>T (p.Gly507=)
c.1251C>T (p.Gly417=)
c.1428C>T (p.Gly476=)
c.1411+391C>T (n.1411+391C>T)
c.485+18803G>A (n.485+18803G>A)
c.1098C>T (p.Gly366=)
c.1413C>T (p.Gly471=)
c.1368C>T (p.Gly456=)
c.1275C>T (p.Gly425=)
9g.36222982G>CCA464495287CLTA,GNEc.1521C>G (p.Gly507=)
c.1251C>G (p.Gly417=)
c.1428C>G (p.Gly476=)
c.1411+391C>G (n.1411+391C>G)
c.485+18803G>C (n.485+18803G>C)
c.1098C>G (p.Gly366=)
c.1413C>G (p.Gly471=)
c.1368C>G (p.Gly456=)
c.1275C>G (p.Gly425=)
9g.36222982G>TCA464495288CLTA,GNEc.1521C>A (p.Gly507=)
c.1251C>A (p.Gly417=)
c.1428C>A (p.Gly476=)
c.1411+391C>A (n.1411+391C>A)
c.485+18803G>T (n.485+18803G>T)
c.1098C>A (p.Gly366=)
c.1413C>A (p.Gly471=)
c.1368C>A (p.Gly456=)
c.1275C>A (p.Gly425=)
9g.36222983C>ACA373426927CLTA,GNEc.1520G>T (p.Gly507Val)
c.1250G>T (p.Gly417Val)
c.1427G>T (p.Gly476Val)
c.1411+390G>T (n.1411+390G>T)
c.485+18804C>A (n.485+18804C>A)
c.1097G>T (p.Gly366Val)
c.1412G>T (p.Gly471Val)
c.1367G>T (p.Gly456Val)
c.1274G>T (p.Gly425Val)
 ClinVar dbSNP
9g.36222983C=CA1846333838CLTA,GNEc.1520G= (p.Gly507=)
c.1250G= (p.Gly417=)
c.1427G= (p.Gly476=)
c.1411+390G= (n.1411+390G=)
c.485+18804C= (n.485+18804C=)
c.1097G= (p.Gly366=)
c.1412G= (p.Gly471=)
c.1367G= (p.Gly456=)
c.1274G= (p.Gly425=)
9g.36222983C>GCA373426931CLTA,GNEc.1520G>C (p.Gly507Ala)
c.1250G>C (p.Gly417Ala)
c.1427G>C (p.Gly476Ala)
c.1411+390G>C (n.1411+390G>C)
c.485+18804C>G (n.485+18804C>G)
c.1097G>C (p.Gly366Ala)
c.1412G>C (p.Gly471Ala)
c.1367G>C (p.Gly456Ala)
c.1274G>C (p.Gly425Ala)
9g.36222983C>TCA373426929CLTA,GNEc.1520G>A (p.Gly507Asp)
c.1250G>A (p.Gly417Asp)
c.1427G>A (p.Gly476Asp)
c.1411+390G>A (n.1411+390G>A)
c.485+18804C>T (n.485+18804C>T)
c.1097G>A (p.Gly366Asp)
c.1412G>A (p.Gly471Asp)
c.1367G>A (p.Gly456Asp)
c.1274G>A (p.Gly425Asp)
9g.36222984C>ACA373426934CLTA,GNEc.1519G>T (p.Gly507Cys)
c.1249G>T (p.Gly417Cys)
c.1426G>T (p.Gly476Cys)
c.1411+389G>T (n.1411+389G>T)
c.485+18805C>A (n.485+18805C>A)
c.1096G>T (p.Gly366Cys)
c.1411G>T (p.Gly471Cys)
c.1366G>T (p.Gly456Cys)
c.1273G>T (p.Gly425Cys)
9g.36222984C>GCA373426936CLTA,GNEc.1519G>C (p.Gly507Arg)
c.1249G>C (p.Gly417Arg)
c.1426G>C (p.Gly476Arg)
c.1411+389G>C (n.1411+389G>C)
c.485+18805C>G (n.485+18805C>G)
c.1096G>C (p.Gly366Arg)
c.1411G>C (p.Gly471Arg)
c.1366G>C (p.Gly456Arg)
c.1273G>C (p.Gly425Arg)
9g.36222984C>TCA373426938CLTA,GNEc.1519G>A (p.Gly507Ser)
c.1249G>A (p.Gly417Ser)
c.1426G>A (p.Gly476Ser)
c.1411+389G>A (n.1411+389G>A)
c.485+18805C>T (n.485+18805C>T)
c.1096G>A (p.Gly366Ser)
c.1411G>A (p.Gly471Ser)
c.1366G>A (p.Gly456Ser)
c.1273G>A (p.Gly425Ser)
 ClinVar dbSNP
9g.36222985A=CA1846333841CLTA,GNEc.1518T= (p.Gly506=)
c.1248T= (p.Gly416=)
c.1425T= (p.Gly475=)
c.1411+388T= (n.1411+388T=)
c.485+18806A= (n.485+18806A=)
c.1095T= (p.Gly365=)
c.1410T= (p.Gly470=)
c.1365T= (p.Gly455=)
c.1272T= (p.Gly424=)
9g.36222985A>CCA464495289CLTA,GNEc.1518T>G (p.Gly506=)
c.1248T>G (p.Gly416=)
c.1425T>G (p.Gly475=)
c.1411+388T>G (n.1411+388T>G)
c.485+18806A>C (n.485+18806A>C)
c.1095T>G (p.Gly365=)
c.1410T>G (p.Gly470=)
c.1365T>G (p.Gly455=)
c.1272T>G (p.Gly424=)
9g.36222985A>GCA464495290CLTA,GNEc.1518T>C (p.Gly506=)
c.1248T>C (p.Gly416=)
c.1425T>C (p.Gly475=)
c.1411+388T>C (n.1411+388T>C)
c.485+18806A>G (n.485+18806A>G)
c.1095T>C (p.Gly365=)
c.1410T>C (p.Gly470=)
c.1365T>C (p.Gly455=)
c.1272T>C (p.Gly424=)
 dbSNP gnomAD v4
9g.36222985A>TCA464495291CLTA,GNEc.1518T>A (p.Gly506=)
c.1248T>A (p.Gly416=)
c.1425T>A (p.Gly475=)
c.1411+388T>A (n.1411+388T>A)
c.485+18806A>T (n.485+18806A>T)
c.1095T>A (p.Gly365=)
c.1410T>A (p.Gly470=)
c.1365T>A (p.Gly455=)
c.1272T>A (p.Gly424=)
9g.36222986C>ACA373426940CLTA,GNEc.1517G>T (p.Gly506Val)
c.1247G>T (p.Gly416Val)
c.1424G>T (p.Gly475Val)
c.1411+387G>T (n.1411+387G>T)
c.485+18807C>A (n.485+18807C>A)
c.1094G>T (p.Gly365Val)
c.1409G>T (p.Gly470Val)
c.1364G>T (p.Gly455Val)
c.1271G>T (p.Gly424Val)
9g.36222986C>GCA373426943CLTA,GNEc.1517G>C (p.Gly506Ala)
c.1247G>C (p.Gly416Ala)
c.1424G>C (p.Gly475Ala)
c.1411+387G>C (n.1411+387G>C)
c.485+18807C>G (n.485+18807C>G)
c.1094G>C (p.Gly365Ala)
c.1409G>C (p.Gly470Ala)
c.1364G>C (p.Gly455Ala)
c.1271G>C (p.Gly424Ala)
9g.36222986C>TCA373426946CLTA,GNEc.1517G>A (p.Gly506Asp)
c.1247G>A (p.Gly416Asp)
c.1424G>A (p.Gly475Asp)
c.1411+387G>A (n.1411+387G>A)
c.485+18807C>T (n.485+18807C>T)
c.1094G>A (p.Gly365Asp)
c.1409G>A (p.Gly470Asp)
c.1364G>A (p.Gly455Asp)
c.1271G>A (p.Gly424Asp)
9g.36222986_36222987delinsAACA1139532203CLTA,GNEc.1516_1517delinsTT (p.Gly506Phe)
c.1246_1247delinsTT (p.Gly416Phe)
c.1423_1424delinsTT (p.Gly475Phe)
c.1411+386_1411+387delinsTT (n.1411+386_1411+387delinsTT)
c.485+18807_485+18808delinsAA (n.485+18807_485+18808delinsAA)
c.1093_1094delinsTT (p.Gly365Phe)
c.1408_1409delinsTT (p.Gly470Phe)
c.1363_1364delinsTT (p.Gly455Phe)
c.1270_1271delinsTT (p.Gly424Phe)
9g.36222987C>ACA373426948CLTA,GNEc.1516G>T (p.Gly506Cys)
c.1246G>T (p.Gly416Cys)
c.1423G>T (p.Gly475Cys)
c.1411+386G>T (n.1411+386G>T)
c.485+18808C>A (n.485+18808C>A)
c.1093G>T (p.Gly365Cys)
c.1408G>T (p.Gly470Cys)
c.1363G>T (p.Gly455Cys)
c.1270G>T (p.Gly424Cys)
 dbSNP gnomAD v3 gnomAD v4
9g.36222987C=CA1846333844CLTA,GNEc.1516G= (p.Gly506=)
c.1246G= (p.Gly416=)
c.1423G= (p.Gly475=)
c.1411+386G= (n.1411+386G=)
c.485+18808C= (n.485+18808C=)
c.1093G= (p.Gly365=)
c.1408G= (p.Gly470=)
c.1363G= (p.Gly455=)
c.1270G= (p.Gly424=)
9g.36222987C>GCA373426951CLTA,GNEc.1516G>C (p.Gly506Arg)
c.1246G>C (p.Gly416Arg)
c.1423G>C (p.Gly475Arg)
c.1411+386G>C (n.1411+386G>C)
c.485+18808C>G (n.485+18808C>G)
c.1093G>C (p.Gly365Arg)
c.1408G>C (p.Gly470Arg)
c.1363G>C (p.Gly455Arg)
c.1270G>C (p.Gly424Arg)
9g.36222987C>TCA373426952CLTA,GNEc.1516G>A (p.Gly506Ser)
c.1246G>A (p.Gly416Ser)
c.1423G>A (p.Gly475Ser)
c.1411+386G>A (n.1411+386G>A)
c.485+18808C>T (n.485+18808C>T)
c.1093G>A (p.Gly365Ser)
c.1408G>A (p.Gly470Ser)
c.1363G>A (p.Gly455Ser)
c.1270G>A (p.Gly424Ser)
9g.36222988T>ACA464495292CLTA,GNEc.1515A>T (p.Thr505=)
c.1245A>T (p.Thr415=)
c.1422A>T (p.Thr474=)
c.1411+385A>T (n.1411+385A>T)
c.485+18809T>A (n.485+18809T>A)
c.1092A>T (p.Thr364=)
c.1407A>T (p.Thr469=)
c.1362A>T (p.Thr454=)
c.1269A>T (p.Thr423=)
 gnomAD v4
9g.36222988T>CCA464495293CLTA,GNEc.1515A>G (p.Thr505=)
c.1245A>G (p.Thr415=)
c.1422A>G (p.Thr474=)
c.1411+385A>G (n.1411+385A>G)
c.485+18809T>C (n.485+18809T>C)
c.1092A>G (p.Thr364=)
c.1407A>G (p.Thr469=)
c.1362A>G (p.Thr454=)
c.1269A>G (p.Thr423=)
 gnomAD v4
9g.36222988T>GCA464495294CLTA,GNEc.1515A>C (p.Thr505=)
c.1245A>C (p.Thr415=)
c.1422A>C (p.Thr474=)
c.1411+385A>C (n.1411+385A>C)
c.485+18809T>G (n.485+18809T>G)
c.1092A>C (p.Thr364=)
c.1407A>C (p.Thr469=)
c.1362A>C (p.Thr454=)
c.1269A>C (p.Thr423=)
9g.36222989G>ACA373426954CLTA,GNEc.1514C>T (p.Thr505Ile)
c.1244C>T (p.Thr415Ile)
c.1421C>T (p.Thr474Ile)
c.1411+384C>T (n.1411+384C>T)
c.485+18810G>A (n.485+18810G>A)
c.1091C>T (p.Thr364Ile)
c.1406C>T (p.Thr469Ile)
c.1361C>T (p.Thr454Ile)
c.1268C>T (p.Thr423Ile)
9g.36222989G>CCA373426955CLTA,GNEc.1514C>G (p.Thr505Arg)
c.1244C>G (p.Thr415Arg)
c.1421C>G (p.Thr474Arg)
c.1411+384C>G (n.1411+384C>G)
c.485+18810G>C (n.485+18810G>C)
c.1091C>G (p.Thr364Arg)
c.1406C>G (p.Thr469Arg)
c.1361C>G (p.Thr454Arg)
c.1268C>G (p.Thr423Arg)
9g.36222989G>TCA373426957CLTA,GNEc.1514C>A (p.Thr505Lys)
c.1244C>A (p.Thr415Lys)
c.1421C>A (p.Thr474Lys)
c.1411+384C>A (n.1411+384C>A)
c.485+18810G>T (n.485+18810G>T)
c.1091C>A (p.Thr364Lys)
c.1406C>A (p.Thr469Lys)
c.1361C>A (p.Thr454Lys)
c.1268C>A (p.Thr423Lys)
9g.36222990T>ACA373426960CLTA,GNEc.1513A>T (p.Thr505Ser)
c.1243A>T (p.Thr415Ser)
c.1420A>T (p.Thr474Ser)
c.1411+383A>T (n.1411+383A>T)
c.485+18811T>A (n.485+18811T>A)
c.1090A>T (p.Thr364Ser)
c.1405A>T (p.Thr469Ser)
c.1360A>T (p.Thr454Ser)
c.1267A>T (p.Thr423Ser)
9g.36222990T>CCA373426964CLTA,GNEc.1513A>G (p.Thr505Ala)
c.1243A>G (p.Thr415Ala)
c.1420A>G (p.Thr474Ala)
c.1411+383A>G (n.1411+383A>G)
c.485+18811T>C (n.485+18811T>C)
c.1090A>G (p.Thr364Ala)
c.1405A>G (p.Thr469Ala)
c.1360A>G (p.Thr454Ala)
c.1267A>G (p.Thr423Ala)
9g.36222990T>GCA373426963CLTA,GNEc.1513A>C (p.Thr505Pro)
c.1243A>C (p.Thr415Pro)
c.1420A>C (p.Thr474Pro)
c.1411+383A>C (n.1411+383A>C)
c.485+18811T>G (n.485+18811T>G)
c.1090A>C (p.Thr364Pro)
c.1405A>C (p.Thr469Pro)
c.1360A>C (p.Thr454Pro)
c.1267A>C (p.Thr423Pro)
9g.36222991G>ACA464495295CLTA,GNEc.1512C>T (p.Ser504=)
c.1242C>T (p.Ser414=)
c.1419C>T (p.Ser473=)
c.1411+382C>T (n.1411+382C>T)
c.485+18812G>A (n.485+18812G>A)
c.1089C>T (p.Ser363=)
c.1404C>T (p.Ser468=)
c.1359C>T (p.Ser453=)
c.1266C>T (p.Ser422=)
9g.36222991G>CCA464495296CLTA,GNEc.1512C>G (p.Ser504=)
c.1242C>G (p.Ser414=)
c.1419C>G (p.Ser473=)
c.1411+382C>G (n.1411+382C>G)
c.485+18812G>C (n.485+18812G>C)
c.1089C>G (p.Ser363=)
c.1404C>G (p.Ser468=)
c.1359C>G (p.Ser453=)
c.1266C>G (p.Ser422=)
 ClinVar dbSNP
9g.36222991G>TCA464495298CLTA,GNEc.1512C>A (p.Ser504=)
c.1242C>A (p.Ser414=)
c.1419C>A (p.Ser473=)
c.1411+382C>A (n.1411+382C>A)
c.485+18812G>T (n.485+18812G>T)
c.1089C>A (p.Ser363=)
c.1404C>A (p.Ser468=)
c.1359C>A (p.Ser453=)
c.1266C>A (p.Ser422=)
9g.36222992G>ACA373426968CLTA,GNEc.1511C>T (p.Ser504Phe)
c.1241C>T (p.Ser414Phe)
c.1418C>T (p.Ser473Phe)
c.1411+381C>T (n.1411+381C>T)
c.485+18813G>A (n.485+18813G>A)
c.1088C>T (p.Ser363Phe)
c.1403C>T (p.Ser468Phe)
c.1358C>T (p.Ser453Phe)
c.1265C>T (p.Ser422Phe)
9g.36222992G>CCA373426972CLTA,GNEc.1511C>G (p.Ser504Cys)
c.1241C>G (p.Ser414Cys)
c.1418C>G (p.Ser473Cys)
c.1411+381C>G (n.1411+381C>G)
c.485+18813G>C (n.485+18813G>C)
c.1088C>G (p.Ser363Cys)
c.1403C>G (p.Ser468Cys)
c.1358C>G (p.Ser453Cys)
c.1265C>G (p.Ser422Cys)
9g.36222992G>TCA373426974CLTA,GNEc.1511C>A (p.Ser504Tyr)
c.1241C>A (p.Ser414Tyr)
c.1418C>A (p.Ser473Tyr)
c.1411+381C>A (n.1411+381C>A)
c.485+18813G>T (n.485+18813G>T)
c.1088C>A (p.Ser363Tyr)
c.1403C>A (p.Ser468Tyr)
c.1358C>A (p.Ser453Tyr)
c.1265C>A (p.Ser422Tyr)
9g.36222992_36222993delinsGACA1846333850CLTA,GNEc.1510_1511delinsTC (p.Ser504=)
c.1240_1241delinsTC (p.Ser414=)
c.1417_1418delinsTC (p.Ser473=)
c.1411+380_1411+381delinsTC (n.1411+380_1411+381delinsTC)
c.485+18813_485+18814delinsGA (n.485+18813_485+18814delinsGA)
c.1087_1088delinsTC (p.Ser363=)
c.1402_1403delinsTC (p.Ser468=)
c.1357_1358delinsTC (p.Ser453=)
c.1264_1265delinsTC (p.Ser422=)
9g.36222993A>CCA373426977CLTA,GNEc.1510T>G (p.Ser504Ala)
c.1240T>G (p.Ser414Ala)
c.1417T>G (p.Ser473Ala)
c.1411+380T>G (n.1411+380T>G)
c.485+18814A>C (n.485+18814A>C)
c.1087T>G (p.Ser363Ala)
c.1402T>G (p.Ser468Ala)
c.1357T>G (p.Ser453Ala)
c.1264T>G (p.Ser422Ala)
9g.36222993A>GCA373426980CLTA,GNEc.1510T>C (p.Ser504Pro)
c.1240T>C (p.Ser414Pro)
c.1417T>C (p.Ser473Pro)
c.1411+380T>C (n.1411+380T>C)
c.485+18814A>G (n.485+18814A>G)
c.1087T>C (p.Ser363Pro)
c.1402T>C (p.Ser468Pro)
c.1357T>C (p.Ser453Pro)
c.1264T>C (p.Ser422Pro)
9g.36222993A>TCA373426982CLTA,GNEc.1510T>A (p.Ser504Thr)
c.1240T>A (p.Ser414Thr)
c.1417T>A (p.Ser473Thr)
c.1411+380T>A (n.1411+380T>A)
c.485+18814A>T (n.485+18814A>T)
c.1087T>A (p.Ser363Thr)
c.1402T>A (p.Ser468Thr)
c.1357T>A (p.Ser453Thr)
c.1264T>A (p.Ser422Thr)
9g.36222995delCA16041313CLTA,GNEc.1510del (p.Ser504ProfsTer6)
c.1240del (p.Ser414ProfsTer6)
c.1417del (p.Ser473ProfsTer6)
c.1411+380del (n.1411+380del)
c.485+18816del (n.485+18816del)
c.1087del (p.Ser363ProfsTer6)
c.1402del (p.Ser468ProfsTer6)
c.1357del (p.Ser453ProfsTer6)
c.1264del (p.Ser422ProfsTer6)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36222994A>CCA373426986CLTA,GNEc.1509T>G (p.Ile503Met)
c.1239T>G (p.Ile413Met)
c.1416T>G (p.Ile472Met)
c.1411+379T>G (n.1411+379T>G)
c.485+18815A>C (n.485+18815A>C)
c.1086T>G (p.Ile362Met)
c.1401T>G (p.Ile467Met)
c.1356T>G (p.Ile452Met)
c.1263T>G (p.Ile421Met)
9g.36222994A>GCA464495299CLTA,GNEc.1509T>C (p.Ile503=)
c.1239T>C (p.Ile413=)
c.1416T>C (p.Ile472=)
c.1411+379T>C (n.1411+379T>C)
c.485+18815A>G (n.485+18815A>G)
c.1086T>C (p.Ile362=)
c.1401T>C (p.Ile467=)
c.1356T>C (p.Ile452=)
c.1263T>C (p.Ile421=)
9g.36222994A>TCA464495301CLTA,GNEc.1509T>A (p.Ile503=)
c.1239T>A (p.Ile413=)
c.1416T>A (p.Ile472=)
c.1411+379T>A (n.1411+379T>A)
c.485+18815A>T (n.485+18815A>T)
c.1086T>A (p.Ile362=)
c.1401T>A (p.Ile467=)
c.1356T>A (p.Ile452=)
c.1263T>A (p.Ile421=)
9g.36222995A>CCA373426989CLTA,GNEc.1508T>G (p.Ile503Ser)
c.1238T>G (p.Ile413Ser)
c.1415T>G (p.Ile472Ser)
c.1411+378T>G (n.1411+378T>G)
c.485+18816A>C (n.485+18816A>C)
c.1085T>G (p.Ile362Ser)
c.1400T>G (p.Ile467Ser)
c.1355T>G (p.Ile452Ser)
c.1262T>G (p.Ile421Ser)
9g.36222995A>GCA373426991CLTA,GNEc.1508T>C (p.Ile503Thr)
c.1238T>C (p.Ile413Thr)
c.1415T>C (p.Ile472Thr)
c.1411+378T>C (n.1411+378T>C)
c.485+18816A>G (n.485+18816A>G)
c.1085T>C (p.Ile362Thr)
c.1400T>C (p.Ile467Thr)
c.1355T>C (p.Ile452Thr)
c.1262T>C (p.Ile421Thr)
9g.36222995A>TCA373426992CLTA,GNEc.1508T>A (p.Ile503Asn)
c.1238T>A (p.Ile413Asn)
c.1415T>A (p.Ile472Asn)
c.1411+378T>A (n.1411+378T>A)
c.485+18816A>T (n.485+18816A>T)
c.1085T>A (p.Ile362Asn)
c.1400T>A (p.Ile467Asn)
c.1355T>A (p.Ile452Asn)
c.1262T>A (p.Ile421Asn)
9g.36222996delCA2579338419CLTA,GNEc.1507del (p.Ile503PhefsTer7)
c.1237del (p.Ile413PhefsTer7)
c.1414del (p.Ile472PhefsTer7)
c.1411+377del (n.1411+377del)
c.485+18817del (n.485+18817del)
c.1084del (p.Ile362PhefsTer7)
c.1399del (p.Ile467PhefsTer7)
c.1354del (p.Ile452PhefsTer7)
c.1261del (p.Ile421PhefsTer7)
9g.36222996T>ACA373427000CLTA,GNEc.1507A>T (p.Ile503Phe)
c.1237A>T (p.Ile413Phe)
c.1414A>T (p.Ile472Phe)
c.1411+377A>T (n.1411+377A>T)
c.485+18817T>A (n.485+18817T>A)
c.1084A>T (p.Ile362Phe)
c.1399A>T (p.Ile467Phe)
c.1354A>T (p.Ile452Phe)
c.1261A>T (p.Ile421Phe)
9g.36222996T>CCA373426998CLTA,GNEc.1507A>G (p.Ile503Val)
c.1237A>G (p.Ile413Val)
c.1414A>G (p.Ile472Val)
c.1411+377A>G (n.1411+377A>G)
c.485+18817T>C (n.485+18817T>C)
c.1084A>G (p.Ile362Val)
c.1399A>G (p.Ile467Val)
c.1354A>G (p.Ile452Val)
c.1261A>G (p.Ile421Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.36222996T>GCA373426996CLTA,GNEc.1507A>C (p.Ile503Leu)
c.1237A>C (p.Ile413Leu)
c.1414A>C (p.Ile472Leu)
c.1411+377A>C (n.1411+377A>C)
c.485+18817T>G (n.485+18817T>G)
c.1084A>C (p.Ile362Leu)
c.1399A>C (p.Ile467Leu)
c.1354A>C (p.Ile452Leu)
c.1261A>C (p.Ile421Leu)
9g.36222996T=CA1846333860CLTA,GNEc.1507A= (p.Ile503=)
c.1237A= (p.Ile413=)
c.1414A= (p.Ile472=)
c.1411+377A= (n.1411+377A=)
c.485+18817T= (n.485+18817T=)
c.1084A= (p.Ile362=)
c.1399A= (p.Ile467=)
c.1354A= (p.Ile452=)
c.1261A= (p.Ile421=)
9g.36222997G>ACA5056483CLTA,GNEc.1506C>T (p.Gly502=)
c.1236C>T (p.Gly412=)
c.1413C>T (p.Gly471=)
c.1411+376C>T (n.1411+376C>T)
c.485+18818G>A (n.485+18818G>A)
c.1083C>T (p.Gly361=)
c.1398C>T (p.Gly466=)
c.1353C>T (p.Gly451=)
c.1260C>T (p.Gly420=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36222997G>CCA464495305CLTA,GNEc.1506C>G (p.Gly502=)
c.1236C>G (p.Gly412=)
c.1413C>G (p.Gly471=)
c.1411+376C>G (n.1411+376C>G)
c.485+18818G>C (n.485+18818G>C)
c.1083C>G (p.Gly361=)
c.1398C>G (p.Gly466=)
c.1353C>G (p.Gly451=)
c.1260C>G (p.Gly420=)
9g.36222997G=CA1846333863CLTA,GNEc.1506C= (p.Gly502=)
c.1236C= (p.Gly412=)
c.1413C= (p.Gly471=)
c.1411+376C= (n.1411+376C=)
c.485+18818G= (n.485+18818G=)
c.1083C= (p.Gly361=)
c.1398C= (p.Gly466=)
c.1353C= (p.Gly451=)
c.1260C= (p.Gly420=)
9g.36222997G>TCA464495304CLTA,GNEc.1506C>A (p.Gly502=)
c.1236C>A (p.Gly412=)
c.1413C>A (p.Gly471=)
c.1411+376C>A (n.1411+376C>A)
c.485+18818G>T (n.485+18818G>T)
c.1083C>A (p.Gly361=)
c.1398C>A (p.Gly466=)
c.1353C>A (p.Gly451=)
c.1260C>A (p.Gly420=)

Number of alleles fetched