Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.92719177T>ACA374037915BICD2c.1468A>T (p.Lys490Ter)
c.1549A>T (p.Lys517Ter)
9g.92719177T>CCA374037925BICD2c.1468A>G (p.Lys490Glu)
c.1549A>G (p.Lys517Glu)
9g.92719177T>GCA374037926BICD2c.1468A>C (p.Lys490Gln)
c.1549A>C (p.Lys517Gln)
9g.92719178C>ACA374037934BICD2c.1467G>T (p.Glu489Asp)
c.1548G>T (p.Glu516Asp)
9g.92719178C=CA1864361841BICD2c.1467G= (p.Glu489=)
c.1548G= (p.Glu516=)
9g.92719178C>GCA374037935BICD2c.1467G>C (p.Glu489Asp)
c.1548G>C (p.Glu516Asp)
9g.92719178C>TCA5126549BICD2c.1467G>A (p.Glu489=)
c.1548G>A (p.Glu516=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719179T>ACA374037936BICD2c.1466A>T (p.Glu489Val)
c.1547A>T (p.Glu516Val)
9g.92719179T>CCA374037938BICD2c.1466A>G (p.Glu489Gly)
c.1547A>G (p.Glu516Gly)
9g.92719179T>GCA374037937BICD2c.1466A>C (p.Glu489Ala)
c.1547A>C (p.Glu516Ala)
9g.92719179_92719183delinsTCTAGCA1864361846BICD2c.1462_1466delinsCTAGA (p.Leu488=)
c.1543_1547delinsCTAGA (p.Leu515=)
9g.92719180C>ACA5126550BICD2c.1465G>T (p.Glu489Ter)
c.1546G>T (p.Glu516Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719180C=CA1864361849BICD2c.1465G= (p.Glu489=)
c.1546G= (p.Glu516=)
9g.92719180C>GCA374037947BICD2c.1465G>C (p.Glu489Gln)
c.1546G>C (p.Glu516Gln)
9g.92719180C>TCA374037951BICD2c.1465G>A (p.Glu489Lys)
c.1546G>A (p.Glu516Lys)
9g.92719181_92719184delCA1126797316BICD2c.1462_1465del (p.Leu488ArgfsTer18)
c.1543_1546del (p.Leu515ArgfsTer18)
 dbSNP gnomAD v3 gnomAD v4
9g.92719181T>ACA466342823BICD2c.1464A>T (p.Leu488=)
c.1545A>T (p.Leu515=)
9g.92719181T>CCA466342825BICD2c.1464A>G (p.Leu488=)
c.1545A>G (p.Leu515=)
 dbSNP
9g.92719181T>GCA466342824BICD2c.1464A>C (p.Leu488=)
c.1545A>C (p.Leu515=)
9g.92719182A=CA1864361854BICD2c.1463T= (p.Leu488=)
c.1544T= (p.Leu515=)
9g.92719182A>CCA374037952BICD2c.1463T>G (p.Leu488Arg)
c.1544T>G (p.Leu515Arg)
9g.92719182A>GCA374037955BICD2c.1463T>C (p.Leu488Pro)
c.1544T>C (p.Leu515Pro)
 ClinVar dbSNP
9g.92719182A>TCA374037958BICD2c.1463T>A (p.Leu488Gln)
c.1544T>A (p.Leu515Gln)
9g.92719183G>ACA466342828BICD2c.1462C>T (p.Leu488=)
c.1543C>T (p.Leu515=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.92719183G>CCA374037960BICD2c.1462C>G (p.Leu488Val)
c.1543C>G (p.Leu515Val)
9g.92719183G=CA1864361859BICD2c.1462C= (p.Leu488=)
c.1543C= (p.Leu515=)
9g.92719183G>TCA374037963BICD2c.1462C>A (p.Leu488Ile)
c.1543C>A (p.Leu515Ile)
 gnomAD v4
9g.92719184C>ACA466342830BICD2c.1461G>T (p.Leu487=)
c.1542G>T (p.Leu514=)
 gnomAD v4
9g.92719184C=CA1864361862BICD2c.1461G= (p.Leu487=)
c.1542G= (p.Leu514=)
9g.92719184C>GCA466342831BICD2c.1461G>C (p.Leu487=)
c.1542G>C (p.Leu514=)
9g.92719184C>TCA196340705BICD2c.1461G>A (p.Leu487=)
c.1542G>A (p.Leu514=)
 dbSNP
9g.92719185A>CCA374037964BICD2c.1460T>G (p.Leu487Arg)
c.1541T>G (p.Leu514Arg)
9g.92719185A>GCA374037968BICD2c.1460T>C (p.Leu487Pro)
c.1541T>C (p.Leu514Pro)
9g.92719185A>TCA374037970BICD2c.1460T>A (p.Leu487Gln)
c.1541T>A (p.Leu514Gln)
9g.92719186G>ACA466342835BICD2c.1459C>T (p.Leu487=)
c.1540C>T (p.Leu514=)
9g.92719186G>CCA374037974BICD2c.1459C>G (p.Leu487Val)
c.1540C>G (p.Leu514Val)
9g.92719186G>TCA374037975BICD2c.1459C>A (p.Leu487Met)
c.1540C>A (p.Leu514Met)
9g.92719187G>ACA466342836BICD2c.1458C>T (p.Ser486=)
c.1539C>T (p.Ser513=)
 ClinVar dbSNP gnomAD v4
9g.92719187G>CCA466342837BICD2c.1458C>G (p.Ser486=)
c.1539C>G (p.Ser513=)
9g.92719187G=CA1864361865BICD2c.1458C= (p.Ser486=)
c.1539C= (p.Ser513=)
9g.92719187G>TCA466342838BICD2c.1458C>A (p.Ser486=)
c.1539C>A (p.Ser513=)
 dbSNP gnomAD v4
9g.92719188G>ACA374037977BICD2c.1457C>T (p.Ser486Phe)
c.1538C>T (p.Ser513Phe)
 gnomAD v4
9g.92719188G>CCA374037981BICD2c.1457C>G (p.Ser486Cys)
c.1538C>G (p.Ser513Cys)
 dbSNP gnomAD v4
9g.92719188G=CA1864361869BICD2c.1457C= (p.Ser486=)
c.1538C= (p.Ser513=)
9g.92719188G>TCA374037979BICD2c.1457C>A (p.Ser486Tyr)
c.1538C>A (p.Ser513Tyr)
9g.92719189A>CCA374037985BICD2c.1456T>G (p.Ser486Ala)
c.1537T>G (p.Ser513Ala)
9g.92719189A>GCA374037986BICD2c.1456T>C (p.Ser486Pro)
c.1537T>C (p.Ser513Pro)
9g.92719189A>TCA374037990BICD2c.1456T>A (p.Ser486Thr)
c.1537T>A (p.Ser513Thr)
9g.92719190G>ACA466342840BICD2c.1455C>T (p.Val485=)
c.1536C>T (p.Val512=)
 dbSNP gnomAD v2 gnomAD v4
9g.92719190G>CCA466342841BICD2c.1455C>G (p.Val485=)
c.1536C>G (p.Val512=)
9g.92719190G=CA1864361872BICD2c.1455C= (p.Val485=)
c.1536C= (p.Val512=)
9g.92719190G>TCA466342842BICD2c.1455C>A (p.Val485=)
c.1536C>A (p.Val512=)
 gnomAD v4
9g.92719191A>CCA374037995BICD2c.1454T>G (p.Val485Gly)
c.1535T>G (p.Val512Gly)
9g.92719191A>GCA374037996BICD2c.1454T>C (p.Val485Ala)
c.1535T>C (p.Val512Ala)
9g.92719191A>TCA374037999BICD2c.1454T>A (p.Val485Asp)
c.1535T>A (p.Val512Asp)
9g.92719192C>ACA5126551BICD2c.1453G>T (p.Val485Phe)
c.1534G>T (p.Val512Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719192C=CA1864361878BICD2c.1453G= (p.Val485=)
c.1534G= (p.Val512=)
9g.92719192C>GCA374038001BICD2c.1453G>C (p.Val485Leu)
c.1534G>C (p.Val512Leu)
9g.92719192C>TCA374038002BICD2c.1453G>A (p.Val485Ile)
c.1534G>A (p.Val512Ile)
9g.92719193C>ACA374038003BICD2c.1452G>T (p.Lys484Asn)
c.1533G>T (p.Lys511Asn)
 gnomAD v4
9g.92719193C>GCA374038004BICD2c.1452G>C (p.Lys484Asn)
c.1533G>C (p.Lys511Asn)
9g.92719193C>TCA466342845BICD2c.1452G>A (p.Lys484=)
c.1533G>A (p.Lys511=)
9g.92719194T>ACA374038014BICD2c.1451A>T (p.Lys484Met)
c.1532A>T (p.Lys511Met)
9g.92719194T>CCA374038010BICD2c.1451A>G (p.Lys484Arg)
c.1532A>G (p.Lys511Arg)
 gnomAD v4
9g.92719194T>GCA374038006BICD2c.1451A>C (p.Lys484Thr)
c.1532A>C (p.Lys511Thr)
 ClinVar dbSNP
9g.92719195T>ACA374038018BICD2c.1450A>T (p.Lys484Ter)
c.1531A>T (p.Lys511Ter)
9g.92719195T>CCA374038031BICD2c.1450A>G (p.Lys484Glu)
c.1531A>G (p.Lys511Glu)
 dbSNP gnomAD v3 gnomAD v4
9g.92719195T>GCA374038032BICD2c.1450A>C (p.Lys484Gln)
c.1531A>C (p.Lys511Gln)
9g.92719195T=CA1864361882BICD2c.1450A= (p.Lys484=)
c.1531A= (p.Lys511=)
9g.92719196C>ACA374038036BICD2c.1449G>T (p.Glu483Asp)
c.1530G>T (p.Glu510Asp)
9g.92719196C=CA1864361884BICD2c.1449G= (p.Glu483=)
c.1530G= (p.Glu510=)
9g.92719196C>GCA374038041BICD2c.1449G>C (p.Glu483Asp)
c.1530G>C (p.Glu510Asp)
9g.92719196C>TCA466342848BICD2c.1449G>A (p.Glu483=)
c.1530G>A (p.Glu510=)
 dbSNP gnomAD v2 gnomAD v4
9g.92719197T>ACA374038046BICD2c.1448A>T (p.Glu483Val)
c.1529A>T (p.Glu510Val)
 dbSNP
9g.92719197T>CCA374038047BICD2c.1448A>G (p.Glu483Gly)
c.1529A>G (p.Glu510Gly)
9g.92719197T>GCA374038048BICD2c.1448A>C (p.Glu483Ala)
c.1529A>C (p.Glu510Ala)
9g.92719198C>ACA374038049BICD2c.1447G>T (p.Glu483Ter)
c.1528G>T (p.Glu510Ter)
9g.92719198C>GCA374038050BICD2c.1447G>C (p.Glu483Gln)
c.1528G>C (p.Glu510Gln)
9g.92719198C>TCA374038051BICD2c.1447G>A (p.Glu483Lys)
c.1528G>A (p.Glu510Lys)
9g.92719199C>ACA466342852BICD2c.1446G>T (p.Thr482=)
c.1527G>T (p.Thr509=)
9g.92719199C=CA1864361890BICD2c.1446G= (p.Thr482=)
c.1527G= (p.Thr509=)
9g.92719199C>GCA466342853BICD2c.1446G>C (p.Thr482=)
c.1527G>C (p.Thr509=)
 gnomAD v4
9g.92719199C>TCA5126552BICD2c.1446G>A (p.Thr482=)
c.1527G>A (p.Thr509=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719200G>ACA5126553BICD2c.1445C>T (p.Thr482Met)
c.1526C>T (p.Thr509Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719200G>CCA374038072BICD2c.1445C>G (p.Thr482Arg)
c.1526C>G (p.Thr509Arg)
 dbSNP
9g.92719200G=CA1864361895BICD2c.1445C= (p.Thr482=)
c.1526C= (p.Thr509=)
9g.92719200G>TCA374038067BICD2c.1445C>A (p.Thr482Lys)
c.1526C>A (p.Thr509Lys)
9g.92719201T>ACA374038074BICD2c.1444A>T (p.Thr482Ser)
c.1525A>T (p.Thr509Ser)
9g.92719201T>CCA374038076BICD2c.1444A>G (p.Thr482Ala)
c.1525A>G (p.Thr509Ala)
 gnomAD v4
9g.92719201T>GCA374038075BICD2c.1444A>C (p.Thr482Pro)
c.1525A>C (p.Thr509Pro)
9g.92719202G>ACA466342858BICD2c.1443C>T (p.Leu481=)
c.1524C>T (p.Leu508=)
 gnomAD v4
9g.92719202G>CCA466342857BICD2c.1443C>G (p.Leu481=)
c.1524C>G (p.Leu508=)
9g.92719202G=CA1864361905BICD2c.1443C= (p.Leu481=)
c.1524C= (p.Leu508=)
9g.92719202G>TCA5126554BICD2c.1443C>A (p.Leu481=)
c.1524C>A (p.Leu508=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719203A=CA1864361910BICD2c.1442T= (p.Leu481=)
c.1523T= (p.Leu508=)
9g.92719203A>CCA374038079BICD2c.1442T>G (p.Leu481Arg)
c.1523T>G (p.Leu508Arg)
9g.92719203A>GCA374038080BICD2c.1442T>C (p.Leu481Pro)
c.1523T>C (p.Leu508Pro)
 dbSNP
9g.92719203A>TCA374038082BICD2c.1442T>A (p.Leu481His)
c.1523T>A (p.Leu508His)
 dbSNP gnomAD v3 gnomAD v4
9g.92719204G>ACA374038092BICD2c.1441C>T (p.Leu481Phe)
c.1522C>T (p.Leu508Phe)
 gnomAD v4
9g.92719204G>CCA374038097BICD2c.1441C>G (p.Leu481Val)
c.1522C>G (p.Leu508Val)
9g.92719204G>TCA374038098BICD2c.1441C>A (p.Leu481Ile)
c.1522C>A (p.Leu508Ile)
 gnomAD v4
9g.92719205T>ACA5126555BICD2c.1440A>T (p.Ala480=)
c.1521A>T (p.Ala507=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719205T>CCA466342860BICD2c.1440A>G (p.Ala480=)
c.1521A>G (p.Ala507=)
9g.92719205T>GCA466342861BICD2c.1440A>C (p.Ala480=)
c.1521A>C (p.Ala507=)
9g.92719205T=CA1864361919BICD2c.1440A= (p.Ala480=)
c.1521A= (p.Ala507=)
9g.92719206G>ACA374038099BICD2c.1439C>T (p.Ala480Val)
c.1520C>T (p.Ala507Val)
 gnomAD v4
9g.92719206G>CCA374038103BICD2c.1439C>G (p.Ala480Gly)
c.1520C>G (p.Ala507Gly)
9g.92719206G>TCA374038104BICD2c.1439C>A (p.Ala480Glu)
c.1520C>A (p.Ala507Glu)
9g.92719207C>ACA374038111BICD2c.1438G>T (p.Ala480Ser)
c.1519G>T (p.Ala507Ser)
9g.92719207C=CA1864361925BICD2c.1438G= (p.Ala480=)
c.1519G= (p.Ala507=)
9g.92719207C>GCA374038109BICD2c.1438G>C (p.Ala480Pro)
c.1519G>C (p.Ala507Pro)
9g.92719207C>TCA5126556BICD2c.1438G>A (p.Ala480Thr)
c.1519G>A (p.Ala507Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719208C>ACA374038112BICD2c.1437G>T (p.Gln479His)
c.1518G>T (p.Gln506His)
9g.92719208C>GCA374038113BICD2c.1437G>C (p.Gln479His)
c.1518G>C (p.Gln506His)
9g.92719208C>TCA466342865BICD2c.1437G>A (p.Gln479=)
c.1518G>A (p.Gln506=)
9g.92719209T>ACA374038114BICD2c.1436A>T (p.Gln479Leu)
c.1517A>T (p.Gln506Leu)
9g.92719209T>CCA374038115BICD2c.1436A>G (p.Gln479Arg)
c.1517A>G (p.Gln506Arg)
 gnomAD v4
9g.92719209T>GCA374038116BICD2c.1436A>C (p.Gln479Pro)
c.1517A>C (p.Gln506Pro)
9g.92719210G>ACA374038117BICD2c.1435C>T (p.Gln479Ter)
c.1516C>T (p.Gln506Ter)
9g.92719210G>CCA374038119BICD2c.1435C>G (p.Gln479Glu)
c.1516C>G (p.Gln506Glu)
9g.92719210G>TCA374038121BICD2c.1435C>A (p.Gln479Lys)
c.1516C>A (p.Gln506Lys)
 gnomAD v4
9g.92719211G>ACA5126557BICD2c.1434C>T (p.Gly478=)
c.1515C>T (p.Gly505=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.92719211G>CCA466342866BICD2c.1434C>G (p.Gly478=)
c.1515C>G (p.Gly505=)
9g.92719211G=CA1864361930BICD2c.1434C= (p.Gly478=)
c.1515C= (p.Gly505=)
9g.92719211G>TCA466342868BICD2c.1434C>A (p.Gly478=)
c.1515C>A (p.Gly505=)
9g.92719212C>ACA374038132BICD2c.1433G>T (p.Gly478Val)
c.1514G>T (p.Gly505Val)
 gnomAD v4
9g.92719212C=CA1864361936BICD2c.1433G= (p.Gly478=)
c.1514G= (p.Gly505=)
9g.92719212C>GCA374038134BICD2c.1433G>C (p.Gly478Ala)
c.1514G>C (p.Gly505Ala)
9g.92719212C>TCA374038135BICD2c.1433G>A (p.Gly478Asp)
c.1514G>A (p.Gly505Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.92719214delCA2690686269BICD2c.1433del (p.Gly478AlafsTer11)
c.1514del (p.Gly505AlafsTer11)
 gnomAD v4
9g.92719213C>ACA374038143BICD2c.1432G>T (p.Gly478Cys)
c.1513G>T (p.Gly505Cys)
9g.92719213C=CA1864361939BICD2c.1432G= (p.Gly478=)
c.1513G= (p.Gly505=)
9g.92719213C>GCA374038140BICD2c.1432G>C (p.Gly478Arg)
c.1513G>C (p.Gly505Arg)
9g.92719213C>TCA5126558BICD2c.1432G>A (p.Gly478Ser)
c.1513G>A (p.Gly505Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719214C>ACA374038149BICD2c.1431G>T (p.Glu477Asp)
c.1512G>T (p.Glu504Asp)
9g.92719214C=CA1864361943BICD2c.1431G= (p.Glu477=)
c.1512G= (p.Glu504=)
9g.92719214C>GCA374038151BICD2c.1431G>C (p.Glu477Asp)
c.1512G>C (p.Glu504Asp)
9g.92719214C>TCA466342873BICD2c.1431G>A (p.Glu477=)
c.1512G>A (p.Glu504=)
 dbSNP gnomAD v2 gnomAD v4
9g.92719215T>ACA374038155BICD2c.1430A>T (p.Glu477Val)
c.1511A>T (p.Glu504Val)
9g.92719215T>CCA374038157BICD2c.1430A>G (p.Glu477Gly)
c.1511A>G (p.Glu504Gly)
9g.92719215T>GCA374038160BICD2c.1430A>C (p.Glu477Ala)
c.1511A>C (p.Glu504Ala)
9g.92719216C>ACA374038164BICD2c.1429G>T (p.Glu477Ter)
c.1510G>T (p.Glu504Ter)
9g.92719216C=CA1864361945BICD2c.1429G= (p.Glu477=)
c.1510G= (p.Glu504=)
9g.92719216C>GCA196340755BICD2c.1429G>C (p.Glu477Gln)
c.1510G>C (p.Glu504Gln)
 ClinVar dbSNP gnomAD v4
9g.92719216C>TCA374038172BICD2c.1429G>A (p.Glu477Lys)
c.1510G>A (p.Glu504Lys)
9g.92719217A=CA1864361948BICD2c.1428T= (p.Ala476=)
c.1509T= (p.Ala503=)
9g.92719217A>CCA466342974BICD2c.1428T>G (p.Ala476=)
c.1509T>G (p.Ala503=)
 ClinVar dbSNP gnomAD v4
9g.92719217A>GCA466342976BICD2c.1428T>C (p.Ala476=)
c.1509T>C (p.Ala503=)
9g.92719217A>TCA466342979BICD2c.1428T>A (p.Ala476=)
c.1509T>A (p.Ala503=)
9g.92719218G>ACA374038180BICD2c.1427C>T (p.Ala476Val)
c.1508C>T (p.Ala503Val)
9g.92719218G>CCA5126559BICD2c.1427C>G (p.Ala476Gly)
c.1508C>G (p.Ala503Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719218G=CA1864361951BICD2c.1427C= (p.Ala476=)
c.1508C= (p.Ala503=)
9g.92719218G>TCA374038184BICD2c.1427C>A (p.Ala476Asp)
c.1508C>A (p.Ala503Asp)
9g.92719219C>ACA374038185BICD2c.1426G>T (p.Ala476Ser)
c.1507G>T (p.Ala503Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.92719219C=CA1864361957BICD2c.1426G= (p.Ala476=)
c.1507G= (p.Ala503=)
9g.92719219C>GCA374038186BICD2c.1426G>C (p.Ala476Pro)
c.1507G>C (p.Ala503Pro)
9g.92719219C>TCA374038187BICD2c.1426G>A (p.Ala476Thr)
c.1507G>A (p.Ala503Thr)
 gnomAD v4
9g.92719220C>ACA374038188BICD2c.1425G>T (p.Glu475Asp)
c.1506G>T (p.Glu502Asp)
9g.92719220C>GCA374038189BICD2c.1425G>C (p.Glu475Asp)
c.1506G>C (p.Glu502Asp)
9g.92719220C>TCA466342984BICD2c.1425G>A (p.Glu475=)
c.1506G>A (p.Glu502=)
9g.92719221T>ACA374038192BICD2c.1424A>T (p.Glu475Val)
c.1505A>T (p.Glu502Val)
9g.92719221T>CCA374038194BICD2c.1424A>G (p.Glu475Gly)
c.1505A>G (p.Glu502Gly)
9g.92719221T>GCA374038197BICD2c.1424A>C (p.Glu475Ala)
c.1505A>C (p.Glu502Ala)
 gnomAD v4
9g.92719222C>ACA374038209BICD2c.1423G>T (p.Glu475Ter)
c.1504G>T (p.Glu502Ter)
9g.92719222C>GCA374038216BICD2c.1423G>C (p.Glu475Gln)
c.1504G>C (p.Glu502Gln)
9g.92719222C>TCA374038217BICD2c.1423G>A (p.Glu475Lys)
c.1504G>A (p.Glu502Lys)
9g.92719223A>CCA374038218BICD2c.1422T>G (p.Tyr474Ter)
c.1503T>G (p.Tyr501Ter)
9g.92719223A>GCA466342990BICD2c.1422T>C (p.Tyr474=)
c.1503T>C (p.Tyr501=)
9g.92719223A>TCA374038219BICD2c.1422T>A (p.Tyr474Ter)
c.1503T>A (p.Tyr501Ter)
9g.92719224T>ACA374038222BICD2c.1421A>T (p.Tyr474Phe)
c.1502A>T (p.Tyr501Phe)
9g.92719224T>CCA16605541BICD2c.1421A>G (p.Tyr474Cys)
c.1502A>G (p.Tyr501Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719224T>GCA374038229BICD2c.1421A>C (p.Tyr474Ser)
c.1502A>C (p.Tyr501Ser)
9g.92719224T=CA1864361960BICD2c.1421A= (p.Tyr474=)
c.1502A= (p.Tyr501=)
9g.92719225A=CA1864361966BICD2c.1420T= (p.Tyr474=)
c.1501T= (p.Tyr501=)
9g.92719225A>CCA374038233BICD2c.1420T>G (p.Tyr474Asp)
c.1501T>G (p.Tyr501Asp)
9g.92719225A>GCA196340760BICD2c.1420T>C (p.Tyr474His)
c.1501T>C (p.Tyr501His)
 dbSNP gnomAD v4
9g.92719225A>TCA374038237BICD2c.1420T>A (p.Tyr474Asn)
c.1501T>A (p.Tyr501Asn)
9g.92719226G>ACA466342996BICD2c.1419C>T (p.Arg473=)
c.1500C>T (p.Arg500=)
9g.92719226G>CCA466342998BICD2c.1419C>G (p.Arg473=)
c.1500C>G (p.Arg500=)
 gnomAD v4
9g.92719226G>TCA466343000BICD2c.1419C>A (p.Arg473=)
c.1500C>A (p.Arg500=)
9g.92719227C>ACA374038238BICD2c.1418G>T (p.Arg473Leu)
c.1499G>T (p.Arg500Leu)
 dbSNP gnomAD v3 gnomAD v4
9g.92719227C=CA1864361968BICD2c.1418G= (p.Arg473=)
c.1499G= (p.Arg500=)
9g.92719227C>GCA374038239BICD2c.1418G>C (p.Arg473Pro)
c.1499G>C (p.Arg500Pro)
9g.92719227C>TCA5126560BICD2c.1418G>A (p.Arg473His)
c.1499G>A (p.Arg500His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.92719228G>ACA5126561BICD2c.1417C>T (p.Arg473Cys)
c.1498C>T (p.Arg500Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.92719228G>CCA374038243BICD2c.1417C>G (p.Arg473Gly)
c.1498C>G (p.Arg500Gly)
9g.92719228G=CA1864361972BICD2c.1417C= (p.Arg473=)
c.1498C= (p.Arg500=)
9g.92719228G>TCA374038246BICD2c.1417C>A (p.Arg473Ser)
c.1498C>A (p.Arg500Ser)
 gnomAD v4
9g.92719229G>ACA466343005BICD2c.1416C>T (p.Gly472=)
c.1497C>T (p.Gly499=)
9g.92719229G>CCA466343006BICD2c.1416C>G (p.Gly472=)
c.1497C>G (p.Gly499=)
9g.92719229G>TCA466343008BICD2c.1416C>A (p.Gly472=)
c.1497C>A (p.Gly499=)
9g.92719230C>ACA374038255BICD2c.1415G>T (p.Gly472Val)
c.1496G>T (p.Gly499Val)
 COSMIC
9g.92719230C>GCA374038250BICD2c.1415G>C (p.Gly472Ala)
c.1496G>C (p.Gly499Ala)
9g.92719230C>TCA374038252BICD2c.1415G>A (p.Gly472Asp)
c.1496G>A (p.Gly499Asp)
9g.92719231C>ACA374038259BICD2c.1414G>T (p.Gly472Cys)
c.1495G>T (p.Gly499Cys)
9g.92719231C=CA1864361975BICD2c.1414G= (p.Gly472=)
c.1495G= (p.Gly499=)
9g.92719231C>GCA374038261BICD2c.1414G>C (p.Gly472Arg)
c.1495G>C (p.Gly499Arg)
9g.92719231C>TCA374038269BICD2c.1414G>A (p.Gly472Ser)
c.1495G>A (p.Gly499Ser)
 ClinVar dbSNP gnomAD v4
9g.92719232C>ACA374038272BICD2c.1413G>T (p.Lys471Asn)
c.1494G>T (p.Lys498Asn)
9g.92719232C=CA1864361979BICD2c.1413G= (p.Lys471=)
c.1494G= (p.Lys498=)
9g.92719232C>GCA374038275BICD2c.1413G>C (p.Lys471Asn)
c.1494G>C (p.Lys498Asn)
9g.92719232C>TCA466343015BICD2c.1413G>A (p.Lys471=)
c.1494G>A (p.Lys498=)
 dbSNP gnomAD v3 gnomAD v4
9g.92719233T>ACA374038301BICD2c.1412A>T (p.Lys471Met)
c.1493A>T (p.Lys498Met)
9g.92719233T>CCA374038294BICD2c.1412A>G (p.Lys471Arg)
c.1493A>G (p.Lys498Arg)
 dbSNP
9g.92719233T>GCA374038297BICD2c.1412A>C (p.Lys471Thr)
c.1493A>C (p.Lys498Thr)
9g.92719234T>ACA374038302BICD2c.1411A>T (p.Lys471Ter)
c.1492A>T (p.Lys498Ter)
9g.92719234T>CCA374038303BICD2c.1411A>G (p.Lys471Glu)
c.1492A>G (p.Lys498Glu)
9g.92719234T>GCA374038304BICD2c.1411A>C (p.Lys471Gln)
c.1492A>C (p.Lys498Gln)
9g.92719234T=CA1864361982BICD2c.1411A= (p.Lys471=)
c.1492A= (p.Lys498=)
9g.92719234_92719235insTGTGACA918508461BICD2c.1410_1411insTCACA (p.Lys471SerfsTer20)
c.1491_1492insTCACA (p.Lys498SerfsTer20)
 dbSNP
9g.92719235C>ACA374038306BICD2c.1410G>T (p.Glu470Asp)
c.1491G>T (p.Glu497Asp)
9g.92719235C=CA1864361988BICD2c.1410G= (p.Glu470=)
c.1491G= (p.Glu497=)
9g.92719235C>GCA374038308BICD2c.1410G>C (p.Glu470Asp)
c.1491G>C (p.Glu497Asp)
9g.92719235C>TCA466343018BICD2c.1410G>A (p.Glu470=)
c.1491G>A (p.Glu497=)
9g.92719235_92719236insAAACCCTGGGGATGGACTCCAGCAGCTACGCCATGGGGAGCA918508462BICD2c.1409_1410insCTCCCCATGGCGTAGCTGCTGGAGTCCATCCCCAGGGTTT (p.Glu470AspfsTer19)
c.1490_1491insCTCCCCATGGCGTAGCTGCTGGAGTCCATCCCCAGGGTTT (p.Glu497AspfsTer19)
 dbSNP
9g.92719236T>ACA374038312BICD2c.1409A>T (p.Glu470Val)
c.1490A>T (p.Glu497Val)
9g.92719236T>CCA374038314BICD2c.1409A>G (p.Glu470Gly)
c.1490A>G (p.Glu497Gly)
9g.92719236T>GCA374038317BICD2c.1409A>C (p.Glu470Ala)
c.1490A>C (p.Glu497Ala)
9g.92719237C>ACA374038326BICD2c.1408G>T (p.Glu470Ter)
c.1489G>T (p.Glu497Ter)
9g.92719237C>GCA374038329BICD2c.1408G>C (p.Glu470Gln)
c.1489G>C (p.Glu497Gln)
9g.92719237C>TCA374038330BICD2c.1408G>A (p.Glu470Lys)
c.1489G>A (p.Glu497Lys)
9g.92719238C>ACA374038331BICD2c.1407G>T (p.Glu469Asp)
c.1488G>T (p.Glu496Asp)
9g.92719238C=CA1864361994BICD2c.1407G= (p.Glu469=)
c.1488G= (p.Glu496=)
9g.92719238C>GCA374038332BICD2c.1407G>C (p.Glu469Asp)
c.1488G>C (p.Glu496Asp)
 ClinVar dbSNP
9g.92719238C>TCA466343021BICD2c.1407G>A (p.Glu469=)
c.1488G>A (p.Glu496=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.92719239T>ACA374038333BICD2c.1406A>T (p.Glu469Val)
c.1487A>T (p.Glu496Val)
 gnomAD v4
9g.92719239T>CCA374038336BICD2c.1406A>G (p.Glu469Gly)
c.1487A>G (p.Glu496Gly)
9g.92719239T>GCA374038334BICD2c.1406A>C (p.Glu469Ala)
c.1487A>C (p.Glu496Ala)
9g.92719240C>ACA374038339BICD2c.1405G>T (p.Glu469Ter)
c.1486G>T (p.Glu496Ter)
9g.92719240C=CA1864361997BICD2c.1405G= (p.Glu469=)
c.1486G= (p.Glu496=)
9g.92719240C>GCA374038341BICD2c.1405G>C (p.Glu469Gln)
c.1486G>C (p.Glu496Gln)
 ClinVar dbSNP
9g.92719240C>TCA5126562BICD2c.1405G>A (p.Glu469Lys)
c.1486G>A (p.Glu496Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719241G>ACA5126563BICD2c.1404C>T (p.Ala468=)
c.1485C>T (p.Ala495=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719241G>CCA466343026BICD2c.1404C>G (p.Ala468=)
c.1485C>G (p.Ala495=)
 dbSNP gnomAD v2 gnomAD v4
9g.92719241G=CA1864361999BICD2c.1404C= (p.Ala468=)
c.1485C= (p.Ala495=)
9g.92719241G>TCA466343028BICD2c.1404C>A (p.Ala468=)
c.1485C>A (p.Ala495=)
9g.92719242G>ACA374038343BICD2c.1403C>T (p.Ala468Val)
c.1484C>T (p.Ala495Val)
9g.92719242G>CCA374038344BICD2c.1403C>G (p.Ala468Gly)
c.1484C>G (p.Ala495Gly)
9g.92719242G>TCA374038345BICD2c.1403C>A (p.Ala468Asp)
c.1484C>A (p.Ala495Asp)
 gnomAD v4
9g.92719243C>ACA374038347BICD2c.1402G>T (p.Ala468Ser)
c.1483G>T (p.Ala495Ser)
9g.92719243C=CA1864362002BICD2c.1402G= (p.Ala468=)
c.1483G= (p.Ala495=)
9g.92719243C>GCA374038349BICD2c.1402G>C (p.Ala468Pro)
c.1483G>C (p.Ala495Pro)
9g.92719243C>TCA5126564BICD2c.1402G>A (p.Ala468Thr)
c.1483G>A (p.Ala495Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.92719244G>ACA5126565BICD2c.1401C>T (p.His467=)
c.1482C>T (p.His494=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719244G>CCA374038357BICD2c.1401C>G (p.His467Gln)
c.1482C>G (p.His494Gln)
9g.92719244G=CA1864362007BICD2c.1401C= (p.His467=)
c.1482C= (p.His494=)
9g.92719244G>TCA374038360BICD2c.1401C>A (p.His467Gln)
c.1482C>A (p.His494Gln)
9g.92719245T>ACA374038373BICD2c.1400A>T (p.His467Leu)
c.1481A>T (p.His494Leu)
9g.92719245T>CCA374038365BICD2c.1400A>G (p.His467Arg)
c.1481A>G (p.His494Arg)
 ClinVar dbSNP
9g.92719245T>GCA374038370BICD2c.1400A>C (p.His467Pro)
c.1481A>C (p.His494Pro)
9g.92719245T=CA1864362010BICD2c.1400A= (p.His467=)
c.1481A= (p.His494=)
9g.92719246G>ACA374038378BICD2c.1399C>T (p.His467Tyr)
c.1480C>T (p.His494Tyr)
9g.92719246G>CCA374038382BICD2c.1399C>G (p.His467Asp)
c.1480C>G (p.His494Asp)
9g.92719246G>TCA374038385BICD2c.1399C>A (p.His467Asn)
c.1480C>A (p.His494Asn)
9g.92719247C>ACA374038389BICD2c.1398G>T (p.Gln466His)
c.1479G>T (p.Gln493His)
 dbSNP gnomAD v4
9g.92719247C=CA1864362015BICD2c.1398G= (p.Gln466=)
c.1479G= (p.Gln493=)
9g.92719247C>GCA374038391BICD2c.1398G>C (p.Gln466His)
c.1479G>C (p.Gln493His)
9g.92719247C>TCA466343037BICD2c.1398G>A (p.Gln466=)
c.1479G>A (p.Gln493=)
 ClinVar dbSNP COSMIC COSMIC
9g.92719248T>ACA374038395BICD2c.1397A>T (p.Gln466Leu)
c.1478A>T (p.Gln493Leu)
9g.92719248T>CCA374038398BICD2c.1397A>G (p.Gln466Arg)
c.1478A>G (p.Gln493Arg)
 ClinVar
9g.92719248T>GCA374038409BICD2c.1397A>C (p.Gln466Pro)
c.1478A>C (p.Gln493Pro)
9g.92719249G>ACA374038413BICD2c.1396C>T (p.Gln466Ter)
c.1477C>T (p.Gln493Ter)
 dbSNP gnomAD v2 gnomAD v4
9g.92719249G>CCA374038415BICD2c.1396C>G (p.Gln466Glu)
c.1477C>G (p.Gln493Glu)
9g.92719249G=CA1864362020BICD2c.1396C= (p.Gln466=)
c.1477C= (p.Gln493=)
9g.92719249G>TCA374038417BICD2c.1396C>A (p.Gln466Lys)
c.1477C>A (p.Gln493Lys)
9g.92719250G>ACA466343041BICD2c.1395C>T (p.Ala465=)
c.1476C>T (p.Ala492=)
9g.92719250G>CCA466343040BICD2c.1395C>G (p.Ala465=)
c.1476C>G (p.Ala492=)
9g.92719250G>TCA466343039BICD2c.1395C>A (p.Ala465=)
c.1476C>A (p.Ala492=)
9g.92719251G>ACA374038421BICD2c.1394C>T (p.Ala465Val)
c.1475C>T (p.Ala492Val)
9g.92719251G>CCA5126566BICD2c.1394C>G (p.Ala465Gly)
c.1475C>G (p.Ala492Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719251G=CA1864362024BICD2c.1394C= (p.Ala465=)
c.1475C= (p.Ala492=)
9g.92719251G>TCA374038425BICD2c.1394C>A (p.Ala465Asp)
c.1475C>A (p.Ala492Asp)
 gnomAD v4
9g.92719252C>ACA374038429BICD2c.1393G>T (p.Ala465Ser)
c.1474G>T (p.Ala492Ser)
9g.92719252C>GCA374038431BICD2c.1393G>C (p.Ala465Pro)
c.1474G>C (p.Ala492Pro)
9g.92719252C>TCA374038430BICD2c.1393G>A (p.Ala465Thr)
c.1474G>A (p.Ala492Thr)
 gnomAD v4
9g.92719252_92719253insGTCGGCCAGCA2516659529BICD2c.1392_1393insCTGGCCGAC (p.Glu464_Ala465insLeuAlaAsp)
c.1473_1474insCTGGCCGAC (p.Glu491_Ala492insLeuAlaAsp)
9g.92719253C>ACA374038434BICD2c.1392G>T (p.Glu464Asp)
c.1473G>T (p.Glu491Asp)
9g.92719253C=CA1864362029BICD2c.1392G= (p.Glu464=)
c.1473G= (p.Glu491=)
9g.92719253C>GCA374038437BICD2c.1392G>C (p.Glu464Asp)
c.1473G>C (p.Glu491Asp)
9g.92719253C>TCA196340808BICD2c.1392G>A (p.Glu464=)
c.1473G>A (p.Glu491=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719254T>ACA374038444BICD2c.1391A>T (p.Glu464Val)
c.1472A>T (p.Glu491Val)
9g.92719254T>CCA374038446BICD2c.1391A>G (p.Glu464Gly)
c.1472A>G (p.Glu491Gly)
9g.92719254T>GCA374038448BICD2c.1391A>C (p.Glu464Ala)
c.1472A>C (p.Glu491Ala)
 dbSNP gnomAD v3 gnomAD v4
9g.92719254T=CA1864362032BICD2c.1391A= (p.Glu464=)
c.1472A= (p.Glu491=)
9g.92719255C>ACA374038454BICD2c.1390G>T (p.Glu464Ter)
c.1471G>T (p.Glu491Ter)
9g.92719255C>GCA374038457BICD2c.1390G>C (p.Glu464Gln)
c.1471G>C (p.Glu491Gln)
9g.92719255C>TCA374038461BICD2c.1390G>A (p.Glu464Lys)
c.1471G>A (p.Glu491Lys)
9g.92719255_92719256insGAAGGCCATCGTGGCCTGCCCCGCCACCAGCTCGGCGATCTCCAGGTCCTGGGCGGTGAAGGGCGCCGCACCCGGGGAGCGCAGCAGCAGCATGACCCCCACGCCCCGCCCCCGGTGGCA2537798908BICD2c.1389_1390insCCACCGGGGGCGGGGCGTGGGGGTCATGCTGCTGCTGCGCTCCCCGGGTGCGGCGCCCTTCACCGCCCAGGACCTGGAGATCGCCGAGCTGGTGGCGGGGCAGGCCACGATGGCCTTC (p.Glu464ProfsTer51)
c.1470_1471insCCACCGGGGGCGGGGCGTGGGGGTCATGCTGCTGCTGCGCTCCCCGGGTGCGGCGCCCTTCACCGCCCAGGACCTGGAGATCGCCGAGCTGGTGGCGGGGCAGGCCACGATGGCCTTC (p.Glu491ProfsTer51)
9g.92719256A>CCA466343048BICD2c.1389T>G (p.Arg463=)
c.1470T>G (p.Arg490=)
9g.92719256A>GCA466343050BICD2c.1389T>C (p.Arg463=)
c.1470T>C (p.Arg490=)
 gnomAD v4
9g.92719256A>TCA466343049BICD2c.1389T>A (p.Arg463=)
c.1470T>A (p.Arg490=)
9g.92719257C>ACA374038466BICD2c.1388G>T (p.Arg463Leu)
c.1469G>T (p.Arg490Leu)
 gnomAD v4
9g.92719257C=CA1864362036BICD2c.1388G= (p.Arg463=)
c.1469G= (p.Arg490=)
9g.92719257C>GCA374038469BICD2c.1388G>C (p.Arg463Pro)
c.1469G>C (p.Arg490Pro)
 dbSNP
9g.92719257C>TCA5126567BICD2c.1388G>A (p.Arg463His)
c.1469G>A (p.Arg490His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719258G>ACA5126568BICD2c.1387C>T (p.Arg463Cys)
c.1468C>T (p.Arg490Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.92719258G>CCA374038482BICD2c.1387C>G (p.Arg463Gly)
c.1468C>G (p.Arg490Gly)
9g.92719258G=CA1864362042BICD2c.1387C= (p.Arg463=)
c.1468C= (p.Arg490=)
9g.92719258G>TCA374038478BICD2c.1387C>A (p.Arg463Ser)
c.1468C>A (p.Arg490Ser)
9g.92719259A>CCA466343055BICD2c.1386T>G (p.Ala462=)
c.1467T>G (p.Ala489=)
9g.92719259A>GCA466343057BICD2c.1386T>C (p.Ala462=)
c.1467T>C (p.Ala489=)
9g.92719259A>TCA466343059BICD2c.1386T>A (p.Ala462=)
c.1467T>A (p.Ala489=)
9g.92719260G>ACA374038489BICD2c.1385C>T (p.Ala462Val)
c.1466C>T (p.Ala489Val)
9g.92719260G>CCA5126569BICD2c.1385C>G (p.Ala462Gly)
c.1466C>G (p.Ala489Gly)
 dbSNP ExAC gnomAD v2
9g.92719260G=CA1864362048BICD2c.1385C= (p.Ala462=)
c.1466C= (p.Ala489=)
9g.92719260G>TCA374038497BICD2c.1385C>A (p.Ala462Asp)
c.1466C>A (p.Ala489Asp)
9g.92719261C>ACA374038502BICD2c.1384G>T (p.Ala462Ser)
c.1465G>T (p.Ala489Ser)
9g.92719261C>GCA374038505BICD2c.1384G>C (p.Ala462Pro)
c.1465G>C (p.Ala489Pro)
9g.92719261C>TCA374038506BICD2c.1384G>A (p.Ala462Thr)
c.1465G>A (p.Ala489Thr)
 ClinVar gnomAD v4
9g.92719262C>ACA374038507BICD2c.1383G>T (p.Glu461Asp)
c.1464G>T (p.Glu488Asp)
9g.92719262C=CA1864362052BICD2c.1383G= (p.Glu461=)
c.1464G= (p.Glu488=)
9g.92719262C>GCA374038508BICD2c.1383G>C (p.Glu461Asp)
c.1464G>C (p.Glu488Asp)
9g.92719262C>TCA466343060BICD2c.1383G>A (p.Glu461=)
c.1464G>A (p.Glu488=)
 dbSNP gnomAD v2 gnomAD v4
9g.92719263T>ACA374038509BICD2c.1382A>T (p.Glu461Val)
c.1463A>T (p.Glu488Val)
9g.92719263T>CCA374038510BICD2c.1382A>G (p.Glu461Gly)
c.1463A>G (p.Glu488Gly)
9g.92719263T>GCA374038512BICD2c.1382A>C (p.Glu461Ala)
c.1463A>C (p.Glu488Ala)
9g.92719264C>ACA374038518BICD2c.1381G>T (p.Glu461Ter)
c.1462G>T (p.Glu488Ter)
9g.92719264C=CA1864362059BICD2c.1381G= (p.Glu461=)
c.1462G= (p.Glu488=)
9g.92719264C>GCA374038515BICD2c.1381G>C (p.Glu461Gln)
c.1462G>C (p.Glu488Gln)
9g.92719264C>TCA5126570BICD2c.1381G>A (p.Glu461Lys)
c.1462G>A (p.Glu488Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719265G>ACA196340827BICD2c.1380C>T (p.His460=)
c.1461C>T (p.His487=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.92719265G>CCA374038528BICD2c.1380C>G (p.His460Gln)
c.1461C>G (p.His487Gln)
9g.92719265G=CA1864362065BICD2c.1380C= (p.His460=)
c.1461C= (p.His487=)
9g.92719265G>TCA374038533BICD2c.1380C>A (p.His460Gln)
c.1461C>A (p.His487Gln)
 gnomAD v4
9g.92719266T>ACA374038536BICD2c.1379A>T (p.His460Leu)
c.1460A>T (p.His487Leu)
9g.92719266T>CCA374038538BICD2c.1379A>G (p.His460Arg)
c.1460A>G (p.His487Arg)
 gnomAD v4
9g.92719266T>GCA374038540BICD2c.1379A>C (p.His460Pro)
c.1460A>C (p.His487Pro)
9g.92719267G>ACA374038546BICD2c.1378C>T (p.His460Tyr)
c.1459C>T (p.His487Tyr)
 gnomAD v4
9g.92719267G>CCA374038548BICD2c.1378C>G (p.His460Asp)
c.1459C>G (p.His487Asp)
9g.92719267G>TCA374038552BICD2c.1378C>A (p.His460Asn)
c.1459C>A (p.His487Asn)
 gnomAD v4
9g.92719268C>ACA5126571BICD2c.1377G>T (p.Thr459=)
c.1458G>T (p.Thr486=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719268C=CA1864362069BICD2c.1377G= (p.Thr459=)
c.1458G= (p.Thr486=)
9g.92719268C>GCA466343068BICD2c.1377G>C (p.Thr459=)
c.1458G>C (p.Thr486=)
9g.92719268C>TCA196340834BICD2c.1377G>A (p.Thr459=)
c.1458G>A (p.Thr486=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719269G>ACA5126572BICD2c.1376C>T (p.Thr459Met)
c.1457C>T (p.Thr486Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719269G>CCA374038560BICD2c.1376C>G (p.Thr459Arg)
c.1457C>G (p.Thr486Arg)
9g.92719269G=CA1864362076BICD2c.1376C= (p.Thr459=)
c.1457C= (p.Thr486=)
9g.92719269G>TCA5126573BICD2c.1376C>A (p.Thr459Lys)
c.1457C>A (p.Thr486Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719270T>ACA374038570BICD2c.1375A>T (p.Thr459Ser)
c.1456A>T (p.Thr486Ser)
9g.92719270T>CCA196340835BICD2c.1375A>G (p.Thr459Ala)
c.1456A>G (p.Thr486Ala)
 ClinVar dbSNP
9g.92719270T>GCA374038567BICD2c.1375A>C (p.Thr459Pro)
c.1456A>C (p.Thr486Pro)
9g.92719270T=CA1864362084BICD2c.1375A= (p.Thr459=)
c.1456A= (p.Thr486=)
9g.92719271G>ACA466343075BICD2c.1374C>T (p.Ser458=)
c.1455C>T (p.Ser485=)
 gnomAD v4
9g.92719271G>CCA374038573BICD2c.1374C>G (p.Ser458Arg)
c.1455C>G (p.Ser485Arg)
9g.92719271G>TCA374038578BICD2c.1374C>A (p.Ser458Arg)
c.1455C>A (p.Ser485Arg)
9g.92719272C>ACA374038582BICD2c.1373G>T (p.Ser458Ile)
c.1454G>T (p.Ser485Ile)
 gnomAD v4
9g.92719272C>GCA374038584BICD2c.1373G>C (p.Ser458Thr)
c.1454G>C (p.Ser485Thr)
9g.92719272C>TCA374038588BICD2c.1373G>A (p.Ser458Asn)
c.1454G>A (p.Ser485Asn)
 gnomAD v4
9g.92719273T>ACA374038590BICD2c.1372A>T (p.Ser458Cys)
c.1453A>T (p.Ser485Cys)
9g.92719273T>CCA374038593BICD2c.1372A>G (p.Ser458Gly)
c.1453A>G (p.Ser485Gly)
 ClinVar dbSNP
9g.92719273T>GCA374038594BICD2c.1372A>C (p.Ser458Arg)
c.1453A>C (p.Ser485Arg)
9g.92719273T=CA1864362089BICD2c.1372A= (p.Ser458=)
c.1453A= (p.Ser485=)
9g.92719274G>ACA5126574BICD2c.1371C>T (p.Arg457=)
c.1452C>T (p.Arg484=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719274G>CCA466343079BICD2c.1371C>G (p.Arg457=)
c.1452C>G (p.Arg484=)
9g.92719274G=CA1864362093BICD2c.1371C= (p.Arg457=)
c.1452C= (p.Arg484=)
9g.92719274G>TCA466343080BICD2c.1371C>A (p.Arg457=)
c.1452C>A (p.Arg484=)
9g.92719275C>ACA374038600BICD2c.1370G>T (p.Arg457Leu)
c.1451G>T (p.Arg484Leu)
9g.92719275C=CA1864362098BICD2c.1370G= (p.Arg457=)
c.1451G= (p.Arg484=)
9g.92719275C>GCA374038602BICD2c.1370G>C (p.Arg457Pro)
c.1451G>C (p.Arg484Pro)
9g.92719275C>TCA5126575BICD2c.1370G>A (p.Arg457His)
c.1451G>A (p.Arg484His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.92719276G>ACA5126576BICD2c.1369C>T (p.Arg457Cys)
c.1450C>T (p.Arg484Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719276G>CCA374038613BICD2c.1369C>G (p.Arg457Gly)
c.1450C>G (p.Arg484Gly)
9g.92719276G=CA1864362112BICD2c.1369C= (p.Arg457=)
c.1450C= (p.Arg484=)
9g.92719276G>TCA374038608BICD2c.1369C>A (p.Arg457Ser)
c.1450C>A (p.Arg484Ser)
 ClinVar dbSNP
9g.92719276dupCA1864362110BICD2c.1369dup (p.Arg457ProfsTer8)
c.1450dup (p.Arg484ProfsTer8)
 dbSNP
9g.92719277C>ACA466343083BICD2c.1368G>T (p.Leu456=)
c.1449G>T (p.Leu483=)
9g.92719277C=CA1864362114BICD2c.1368G= (p.Leu456=)
c.1449G= (p.Leu483=)
9g.92719277C>GCA466343085BICD2c.1368G>C (p.Leu456=)
c.1449G>C (p.Leu483=)
9g.92719277C>TCA5126577BICD2c.1368G>A (p.Leu456=)
c.1449G>A (p.Leu483=)
 dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched