Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.92719114C>ACA374037488BICD2c.1531G>T (p.Asp511Tyr)
c.1612G>T (p.Asp538Tyr)
 gnomAD v4
9g.92719114C=CA1864361691BICD2c.1531G= (p.Asp511=)
c.1612G= (p.Asp538=)
9g.92719114C>GCA374037489BICD2c.1531G>C (p.Asp511His)
c.1612G>C (p.Asp538His)
 dbSNP
9g.92719114C>TCA374037490BICD2c.1531G>A (p.Asp511Asn)
c.1612G>A (p.Asp538Asn)
 gnomAD v4 COSMIC
9g.92719115G>ACA5126533BICD2c.1530C>T (p.Ser510=)
c.1611C>T (p.Ser537=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719115G>CCA374037493BICD2c.1530C>G (p.Ser510Arg)
c.1611C>G (p.Ser537Arg)
9g.92719115G=CA1864361696BICD2c.1530C= (p.Ser510=)
c.1611C= (p.Ser537=)
9g.92719115G>TCA374037491BICD2c.1530C>A (p.Ser510Arg)
c.1611C>A (p.Ser537Arg)
9g.92719116C>ACA374037501BICD2c.1529G>T (p.Ser510Ile)
c.1610G>T (p.Ser537Ile)
9g.92719116C>GCA374037497BICD2c.1529G>C (p.Ser510Thr)
c.1610G>C (p.Ser537Thr)
 gnomAD v4
9g.92719116C>TCA374037504BICD2c.1529G>A (p.Ser510Asn)
c.1610G>A (p.Ser537Asn)
9g.92719117T>ACA374037505BICD2c.1528A>T (p.Ser510Cys)
c.1609A>T (p.Ser537Cys)
9g.92719117T>CCA374037506BICD2c.1528A>G (p.Ser510Gly)
c.1609A>G (p.Ser537Gly)
9g.92719117T>GCA374037507BICD2c.1528A>C (p.Ser510Arg)
c.1609A>C (p.Ser537Arg)
9g.92719118C>ACA466342748BICD2c.1527G>T (p.Val509=)
c.1608G>T (p.Val536=)
9g.92719118C>GCA466342749BICD2c.1527G>C (p.Val509=)
c.1608G>C (p.Val536=)
9g.92719118C>TCA466342750BICD2c.1527G>A (p.Val509=)
c.1608G>A (p.Val536=)
9g.92719119A>CCA374037508BICD2c.1526T>G (p.Val509Gly)
c.1607T>G (p.Val536Gly)
9g.92719119A>GCA374037509BICD2c.1526T>C (p.Val509Ala)
c.1607T>C (p.Val536Ala)
9g.92719119A>TCA374037510BICD2c.1526T>A (p.Val509Glu)
c.1607T>A (p.Val536Glu)
9g.92719120C>ACA374037516BICD2c.1525G>T (p.Val509Leu)
c.1606G>T (p.Val536Leu)
9g.92719120C=CA1864361700BICD2c.1525G= (p.Val509=)
c.1606G= (p.Val536=)
9g.92719120C>GCA374037512BICD2c.1525G>C (p.Val509Leu)
c.1606G>C (p.Val536Leu)
9g.92719120C>TCA5126534BICD2c.1525G>A (p.Val509Met)
c.1606G>A (p.Val536Met)
 dbSNP ExAC gnomAD v3 gnomAD v4
9g.92719121C>ACA374037518BICD2c.1524G>T (p.Lys508Asn)
c.1605G>T (p.Lys535Asn)
9g.92719121C>GCA374037520BICD2c.1524G>C (p.Lys508Asn)
c.1605G>C (p.Lys535Asn)
9g.92719121C>TCA466342751BICD2c.1524G>A (p.Lys508=)
c.1605G>A (p.Lys535=)
9g.92719124_92719126delCA2580616229BICD2c.1522_1524del (p.Lys508del)
c.1603_1605del (p.Lys535del)
 ClinVar dbSNP
9g.92719122T>ACA374037524BICD2c.1523A>T (p.Lys508Met)
c.1604A>T (p.Lys535Met)
9g.92719122T>CCA374037536BICD2c.1523A>G (p.Lys508Arg)
c.1604A>G (p.Lys535Arg)
9g.92719122T>GCA143972BICD2c.1523A>C (p.Lys508Thr)
c.1604A>C (p.Lys535Thr)
 ClinVar dbSNP
9g.92719122T=CA1864361704BICD2c.1523A= (p.Lys508=)
c.1604A= (p.Lys535=)
9g.92719123T>ACA374037547BICD2c.1522A>T (p.Lys508Ter)
c.1603A>T (p.Lys535Ter)
9g.92719123T>CCA374037552BICD2c.1522A>G (p.Lys508Glu)
c.1603A>G (p.Lys535Glu)
9g.92719123T>GCA374037550BICD2c.1522A>C (p.Lys508Gln)
c.1603A>C (p.Lys535Gln)
9g.92719124C>ACA374037557BICD2c.1521G>T (p.Lys507Asn)
c.1602G>T (p.Lys534Asn)
9g.92719124C>GCA374037559BICD2c.1521G>C (p.Lys507Asn)
c.1602G>C (p.Lys534Asn)
9g.92719124C>TCA466342755BICD2c.1521G>A (p.Lys507=)
c.1602G>A (p.Lys534=)
9g.92719125T>ACA374037561BICD2c.1520A>T (p.Lys507Met)
c.1601A>T (p.Lys534Met)
 COSMIC
9g.92719125T>CCA374037564BICD2c.1520A>G (p.Lys507Arg)
c.1601A>G (p.Lys534Arg)
9g.92719125T>GCA374037578BICD2c.1520A>C (p.Lys507Thr)
c.1601A>C (p.Lys534Thr)
9g.92719126T>ACA374037581BICD2c.1519A>T (p.Lys507Ter)
c.1600A>T (p.Lys534Ter)
9g.92719126T>CCA374037589BICD2c.1519A>G (p.Lys507Glu)
c.1600A>G (p.Lys534Glu)
 gnomAD v4 COSMIC COSMIC
9g.92719126T>GCA374037590BICD2c.1519A>C (p.Lys507Gln)
c.1600A>C (p.Lys534Gln)
9g.92719127T>ACA466342758BICD2c.1518A>T (p.Leu506=)
c.1599A>T (p.Leu533=)
9g.92719127T>CCA466342759BICD2c.1518A>G (p.Leu506=)
c.1599A>G (p.Leu533=)
9g.92719127T>GCA466342760BICD2c.1518A>C (p.Leu506=)
c.1599A>C (p.Leu533=)
9g.92719128A>CCA374037591BICD2c.1517T>G (p.Leu506Arg)
c.1598T>G (p.Leu533Arg)
9g.92719128A>GCA374037592BICD2c.1517T>C (p.Leu506Pro)
c.1598T>C (p.Leu533Pro)
 ClinVar
9g.92719128A>TCA374037593BICD2c.1517T>A (p.Leu506Gln)
c.1598T>A (p.Leu533Gln)
9g.92719129G>ACA466342761BICD2c.1516C>T (p.Leu506=)
c.1597C>T (p.Leu533=)
9g.92719129G>CCA374037595BICD2c.1516C>G (p.Leu506Val)
c.1597C>G (p.Leu533Val)
9g.92719129G>TCA374037598BICD2c.1516C>A (p.Leu506Ile)
c.1597C>A (p.Leu533Ile)
 gnomAD v4
9g.92719130C>ACA374037604BICD2c.1515G>T (p.Glu505Asp)
c.1596G>T (p.Glu532Asp)
9g.92719130C=CA1864361714BICD2c.1515G= (p.Glu505=)
c.1596G= (p.Glu532=)
9g.92719130C>GCA374037609BICD2c.1515G>C (p.Glu505Asp)
c.1596G>C (p.Glu532Asp)
9g.92719130C>TCA5126535BICD2c.1515G>A (p.Glu505=)
c.1596G>A (p.Glu532=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719131T>ACA374037614BICD2c.1514A>T (p.Glu505Val)
c.1595A>T (p.Glu532Val)
9g.92719131T>CCA374037615BICD2c.1514A>G (p.Glu505Gly)
c.1595A>G (p.Glu532Gly)
9g.92719131T>GCA374037616BICD2c.1514A>C (p.Glu505Ala)
c.1595A>C (p.Glu532Ala)
9g.92719132C>ACA374037619BICD2c.1513G>T (p.Glu505Ter)
c.1594G>T (p.Glu532Ter)
9g.92719132C>GCA374037617BICD2c.1513G>C (p.Glu505Gln)
c.1594G>C (p.Glu532Gln)
9g.92719132C>TCA374037618BICD2c.1513G>A (p.Glu505Lys)
c.1594G>A (p.Glu532Lys)
9g.92719132_92719135delinsCCTTCA1864361717BICD2c.1510_1513delinsAAGG (p.Lys504=)
c.1591_1594delinsAAGG (p.Lys531=)
9g.92719133C>ACA374037623BICD2c.1512G>T (p.Lys504Asn)
c.1593G>T (p.Lys531Asn)
9g.92719133C=CA1864361723BICD2c.1512G= (p.Lys504=)
c.1593G= (p.Lys531=)
9g.92719133C>GCA196340612BICD2c.1512G>C (p.Lys504Asn)
c.1593G>C (p.Lys531Asn)
 dbSNP
9g.92719133C>TCA466342764BICD2c.1512G>A (p.Lys504=)
c.1593G>A (p.Lys531=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.92719135_92719137delCA658797226BICD2c.1510_1512del (p.Lys504del)
c.1591_1593del (p.Lys531del)
 ClinVar dbSNP
9g.92719134T>ACA374037642BICD2c.1511A>T (p.Lys504Met)
c.1592A>T (p.Lys531Met)
9g.92719134T>CCA374037647BICD2c.1511A>G (p.Lys504Arg)
c.1592A>G (p.Lys531Arg)
9g.92719134T>GCA374037649BICD2c.1511A>C (p.Lys504Thr)
c.1592A>C (p.Lys531Thr)
9g.92719135T>ACA374037653BICD2c.1510A>T (p.Lys504Ter)
c.1591A>T (p.Lys531Ter)
9g.92719135T>CCA374037658BICD2c.1510A>G (p.Lys504Glu)
c.1591A>G (p.Lys531Glu)
9g.92719135T>GCA374037656BICD2c.1510A>C (p.Lys504Gln)
c.1591A>C (p.Lys531Gln)
9g.92719136C>ACA374037664BICD2c.1509G>T (p.Glu503Asp)
c.1590G>T (p.Glu530Asp)
9g.92719136C>GCA374037665BICD2c.1509G>C (p.Glu503Asp)
c.1590G>C (p.Glu530Asp)
9g.92719136C>TCA466342765BICD2c.1509G>A (p.Glu503=)
c.1590G>A (p.Glu530=)
9g.92719137T>ACA374037666BICD2c.1508A>T (p.Glu503Val)
c.1589A>T (p.Glu530Val)
9g.92719137T>CCA374037667BICD2c.1508A>G (p.Glu503Gly)
c.1589A>G (p.Glu530Gly)
9g.92719137T>GCA374037668BICD2c.1508A>C (p.Glu503Ala)
c.1589A>C (p.Glu530Ala)
9g.92719138C>ACA374037669BICD2c.1507G>T (p.Glu503Ter)
c.1588G>T (p.Glu530Ter)
9g.92719138C>GCA374037672BICD2c.1507G>C (p.Glu503Gln)
c.1588G>C (p.Glu530Gln)
9g.92719138C>TCA374037674BICD2c.1507G>A (p.Glu503Lys)
c.1588G>A (p.Glu530Lys)
9g.92719139C>ACA466342766BICD2c.1506G>T (p.Leu502=)
c.1587G>T (p.Leu529=)
9g.92719139C=CA1864361726BICD2c.1506G= (p.Leu502=)
c.1587G= (p.Leu529=)
9g.92719139C>GCA466342767BICD2c.1506G>C (p.Leu502=)
c.1587G>C (p.Leu529=)
9g.92719139C>TCA466342768BICD2c.1506G>A (p.Leu502=)
c.1587G>A (p.Leu529=)
 ClinVar dbSNP
9g.92719140A>CCA374037677BICD2c.1505T>G (p.Leu502Arg)
c.1586T>G (p.Leu529Arg)
9g.92719140A>GCA374037679BICD2c.1505T>C (p.Leu502Pro)
c.1586T>C (p.Leu529Pro)
9g.92719140A>TCA374037682BICD2c.1505T>A (p.Leu502Gln)
c.1586T>A (p.Leu529Gln)
9g.92719141G>ACA466342770BICD2c.1504C>T (p.Leu502=)
c.1585C>T (p.Leu529=)
 gnomAD v4
9g.92719141G>CCA374037687BICD2c.1504C>G (p.Leu502Val)
c.1585C>G (p.Leu529Val)
9g.92719141G>TCA374037684BICD2c.1504C>A (p.Leu502Met)
c.1585C>A (p.Leu529Met)
 gnomAD v4
9g.92719142C>ACA466342771BICD2c.1503G>T (p.Arg501=)
c.1584G>T (p.Arg528=)
 ClinVar dbSNP
9g.92719142C=CA1864361732BICD2c.1503G= (p.Arg501=)
c.1584G= (p.Arg528=)
9g.92719142C>GCA466342773BICD2c.1503G>C (p.Arg501=)
c.1584G>C (p.Arg528=)
9g.92719142C>TCA466342772BICD2c.1503G>A (p.Arg501=)
c.1584G>A (p.Arg528=)
 ClinVar dbSNP gnomAD v4
9g.92719143C>ACA374037700BICD2c.1502G>T (p.Arg501Leu)
c.1583G>T (p.Arg528Leu)
 dbSNP gnomAD v4
9g.92719143C=CA1864361739BICD2c.1502G= (p.Arg501=)
c.1583G= (p.Arg528=)
9g.92719143C>GCA143974BICD2c.1502G>C (p.Arg501Pro)
c.1583G>C (p.Arg528Pro)
 ClinVar dbSNP gnomAD v4
9g.92719143C>TCA374037712BICD2c.1502G>A (p.Arg501Gln)
c.1583G>A (p.Arg528Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719144G>ACA5126536BICD2c.1501C>T (p.Arg501Trp)
c.1582C>T (p.Arg528Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.92719144G>CCA374037723BICD2c.1501C>G (p.Arg501Gly)
c.1582C>G (p.Arg528Gly)
 ClinVar
9g.92719144G=CA1864361749BICD2c.1501C= (p.Arg501=)
c.1582C= (p.Arg528=)
9g.92719144G>TCA466342775BICD2c.1501C>A (p.Arg501=)
c.1582C>A (p.Arg528=)
 gnomAD v4
9g.92719145G>ACA466342776BICD2c.1500C>T (p.Ala500=)
c.1581C>T (p.Ala527=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.92719145G>CCA466342778BICD2c.1500C>G (p.Ala500=)
c.1581C>G (p.Ala527=)
9g.92719145G=CA1864361758BICD2c.1500C= (p.Ala500=)
c.1581C= (p.Ala527=)
9g.92719145G>TCA466342777BICD2c.1500C>A (p.Ala500=)
c.1581C>A (p.Ala527=)
9g.92719146G>ACA374037730BICD2c.1499C>T (p.Ala500Val)
c.1580C>T (p.Ala527Val)
 gnomAD v4
9g.92719146G>CCA374037731BICD2c.1499C>G (p.Ala500Gly)
c.1580C>G (p.Ala527Gly)
9g.92719146G>TCA374037733BICD2c.1499C>A (p.Ala500Asp)
c.1580C>A (p.Ala527Asp)
9g.92719147C>ACA374037742BICD2c.1498G>T (p.Ala500Ser)
c.1579G>T (p.Ala527Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.92719147C=CA1864361762BICD2c.1498G= (p.Ala500=)
c.1579G= (p.Ala527=)
9g.92719147C>GCA374037744BICD2c.1498G>C (p.Ala500Pro)
c.1579G>C (p.Ala527Pro)
9g.92719147C>TCA5126537BICD2c.1498G>A (p.Ala500Thr)
c.1579G>A (p.Ala527Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719148C>ACA466342782BICD2c.1497G>T (p.Leu499=)
c.1578G>T (p.Leu526=)
9g.92719148C=CA1864361770BICD2c.1497G= (p.Leu499=)
c.1578G= (p.Leu526=)
9g.92719148C>GCA466342784BICD2c.1497G>C (p.Leu499=)
c.1578G>C (p.Leu526=)
9g.92719148C>TCA466342783BICD2c.1497G>A (p.Leu499=)
c.1578G>A (p.Leu526=)
 dbSNP gnomAD v2 gnomAD v4
9g.92719149A>CCA374037753BICD2c.1496T>G (p.Leu499Arg)
c.1577T>G (p.Leu526Arg)
9g.92719149A>GCA374037756BICD2c.1496T>C (p.Leu499Pro)
c.1577T>C (p.Leu526Pro)
9g.92719149A>TCA374037758BICD2c.1496T>A (p.Leu499Gln)
c.1577T>A (p.Leu526Gln)
9g.92719150G>ACA466342787BICD2c.1495C>T (p.Leu499=)
c.1576C>T (p.Leu526=)
9g.92719150G>CCA374037764BICD2c.1495C>G (p.Leu499Val)
c.1576C>G (p.Leu526Val)
9g.92719150G>TCA374037766BICD2c.1495C>A (p.Leu499Met)
c.1576C>A (p.Leu526Met)
 gnomAD v4
9g.92719151C>ACA466342788BICD2c.1494G>T (p.Leu498=)
c.1575G>T (p.Leu525=)
9g.92719151C>GCA466342789BICD2c.1494G>C (p.Leu498=)
c.1575G>C (p.Leu525=)
9g.92719151C>TCA466342790BICD2c.1494G>A (p.Leu498=)
c.1575G>A (p.Leu525=)
 gnomAD v4
9g.92719152A>CCA374037773BICD2c.1493T>G (p.Leu498Arg)
c.1574T>G (p.Leu525Arg)
9g.92719152A>GCA374037769BICD2c.1493T>C (p.Leu498Pro)
c.1574T>C (p.Leu525Pro)
9g.92719152A>TCA374037770BICD2c.1493T>A (p.Leu498Gln)
c.1574T>A (p.Leu525Gln)
9g.92719153G>ACA5126538BICD2c.1492C>T (p.Leu498=)
c.1573C>T (p.Leu525=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719153G>CCA374037775BICD2c.1492C>G (p.Leu498Val)
c.1573C>G (p.Leu525Val)
9g.92719153G=CA1864361772BICD2c.1492C= (p.Leu498=)
c.1573C= (p.Leu525=)
9g.92719153G>TCA374037776BICD2c.1492C>A (p.Leu498Met)
c.1573C>A (p.Leu525Met)
9g.92719154C>ACA374037777BICD2c.1491G>T (p.Glu497Asp)
c.1572G>T (p.Glu524Asp)
9g.92719154C=CA1864361776BICD2c.1491G= (p.Glu497=)
c.1572G= (p.Glu524=)
9g.92719154C>GCA374037778BICD2c.1491G>C (p.Glu497Asp)
c.1572G>C (p.Glu524Asp)
9g.92719154C>TCA5126539BICD2c.1491G>A (p.Glu497=)
c.1572G>A (p.Glu524=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719154_92719156delinsTGACA2580080665BICD2c.1489_1491delinsTCA (p.Glu497Ser)
c.1570_1572delinsTCA (p.Glu524Ser)
 ClinVar
9g.92719155T>ACA374037779BICD2c.1490A>T (p.Glu497Val)
c.1571A>T (p.Glu524Val)
9g.92719155T>CCA374037786BICD2c.1490A>G (p.Glu497Gly)
c.1571A>G (p.Glu524Gly)
9g.92719155T>GCA374037790BICD2c.1490A>C (p.Glu497Ala)
c.1571A>C (p.Glu524Ala)
 dbSNP
9g.92719155T=CA1864361779BICD2c.1490A= (p.Glu497=)
c.1571A= (p.Glu524=)
9g.92719156C>ACA374037791BICD2c.1489G>T (p.Glu497Ter)
c.1570G>T (p.Glu524Ter)
 dbSNP gnomAD v4
9g.92719156C=CA1864361782BICD2c.1489G= (p.Glu497=)
c.1570G= (p.Glu524=)
9g.92719156C>GCA374037792BICD2c.1489G>C (p.Glu497Gln)
c.1570G>C (p.Glu524Gln)
9g.92719156C>TCA5126540BICD2c.1489G>A (p.Glu497Lys)
c.1570G>A (p.Glu524Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719157G>ACA5126541BICD2c.1488C>T (p.Arg496=)
c.1569C>T (p.Arg523=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719157G>CCA466342796BICD2c.1488C>G (p.Arg496=)
c.1569C>G (p.Arg523=)
 gnomAD v4
9g.92719157G=CA1864361787BICD2c.1488C= (p.Arg496=)
c.1569C= (p.Arg523=)
9g.92719157G>TCA466342797BICD2c.1488C>A (p.Arg496=)
c.1569C>A (p.Arg523=)
 dbSNP gnomAD v3 gnomAD v4
9g.92719158C>ACA374037800BICD2c.1487G>T (p.Arg496Leu)
c.1568G>T (p.Arg523Leu)
9g.92719158C=CA1864361794BICD2c.1487G= (p.Arg496=)
c.1568G= (p.Arg523=)
9g.92719158C>GCA374037793BICD2c.1487G>C (p.Arg496Pro)
c.1568G>C (p.Arg523Pro)
9g.92719158C>TCA374037795BICD2c.1487G>A (p.Arg496His)
c.1568G>A (p.Arg523His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.92719159G>ACA374037803BICD2c.1486C>T (p.Arg496Cys)
c.1567C>T (p.Arg523Cys)
 ClinVar dbSNP gnomAD v4
9g.92719159G>CCA374037805BICD2c.1486C>G (p.Arg496Gly)
c.1567C>G (p.Arg523Gly)
9g.92719159G=CA1864361796BICD2c.1486C= (p.Arg496=)
c.1567C= (p.Arg523=)
9g.92719159G>TCA374037806BICD2c.1486C>A (p.Arg496Ser)
c.1567C>A (p.Arg523Ser)
9g.92719160G>ACA466342802BICD2c.1485C>T (p.Asp495=)
c.1566C>T (p.Asp522=)
9g.92719160G>CCA374037808BICD2c.1485C>G (p.Asp495Glu)
c.1566C>G (p.Asp522Glu)
9g.92719160G>TCA374037810BICD2c.1485C>A (p.Asp495Glu)
c.1566C>A (p.Asp522Glu)
 gnomAD v4
9g.92719161T>ACA374037812BICD2c.1484A>T (p.Asp495Val)
c.1565A>T (p.Asp522Val)
9g.92719161T>CCA374037822BICD2c.1484A>G (p.Asp495Gly)
c.1565A>G (p.Asp522Gly)
9g.92719161T>GCA374037827BICD2c.1484A>C (p.Asp495Ala)
c.1565A>C (p.Asp522Ala)
9g.92719162C>ACA374037831BICD2c.1483G>T (p.Asp495Tyr)
c.1564G>T (p.Asp522Tyr)
 gnomAD v4
9g.92719162C=CA1864361800BICD2c.1483G= (p.Asp495=)
c.1564G= (p.Asp522=)
9g.92719162C>GCA374037833BICD2c.1483G>C (p.Asp495His)
c.1564G>C (p.Asp522His)
 dbSNP gnomAD v2 gnomAD v4
9g.92719162C>TCA374037834BICD2c.1483G>A (p.Asp495Asn)
c.1564G>A (p.Asp522Asn)
9g.92719163C>ACA374037839BICD2c.1482G>T (p.Gln494His)
c.1563G>T (p.Gln521His)
9g.92719163C=CA1864361804BICD2c.1482G= (p.Gln494=)
c.1563G= (p.Gln521=)
9g.92719163C>GCA374037835BICD2c.1482G>C (p.Gln494His)
c.1563G>C (p.Gln521His)
9g.92719163C>TCA5126542BICD2c.1482G>A (p.Gln494=)
c.1563G>A (p.Gln521=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719164T>ACA374037841BICD2c.1481A>T (p.Gln494Leu)
c.1562A>T (p.Gln521Leu)
9g.92719164T>CCA5126543BICD2c.1481A>G (p.Gln494Arg)
c.1562A>G (p.Gln521Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719164T>GCA374037844BICD2c.1481A>C (p.Gln494Pro)
c.1562A>C (p.Gln521Pro)
9g.92719164T=CA1864361806BICD2c.1481A= (p.Gln494=)
c.1562A= (p.Gln521=)
9g.92719165G>ACA374037847BICD2c.1480C>T (p.Gln494Ter)
c.1561C>T (p.Gln521Ter)
 dbSNP gnomAD v2
9g.92719165G>CCA374037848BICD2c.1480C>G (p.Gln494Glu)
c.1561C>G (p.Gln521Glu)
9g.92719165G=CA1864361812BICD2c.1480C= (p.Gln494=)
c.1561C= (p.Gln521=)
9g.92719165G>TCA374037849BICD2c.1480C>A (p.Gln494Lys)
c.1561C>A (p.Gln521Lys)
 gnomAD v4
9g.92719166G>ACA5126544BICD2c.1479C>T (p.Arg493=)
c.1560C>T (p.Arg520=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719166G>CCA466342805BICD2c.1479C>G (p.Arg493=)
c.1560C>G (p.Arg520=)
9g.92719166G=CA1864361823BICD2c.1479C= (p.Arg493=)
c.1560C= (p.Arg520=)
9g.92719166G>TCA466342806BICD2c.1479C>A (p.Arg493=)
c.1560C>A (p.Arg520=)
9g.92719166_92719167delinsAACA915947044BICD2c.1478_1479delinsTT (p.Arg493Leu)
c.1559_1560delinsTT (p.Arg520Leu)
 ClinVar dbSNP
9g.92719166_92719167delinsGCCA1864361821BICD2c.1478_1479delinsGC (p.Arg493=)
c.1559_1560delinsGC (p.Arg520=)
9g.92719167C>ACA5126545BICD2c.1478G>T (p.Arg493Leu)
c.1559G>T (p.Arg520Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719167C=CA1864361825BICD2c.1478G= (p.Arg493=)
c.1559G= (p.Arg520=)
9g.92719167C>GCA374037859BICD2c.1478G>C (p.Arg493Pro)
c.1559G>C (p.Arg520Pro)
9g.92719167C>TCA5126546BICD2c.1478G>A (p.Arg493His)
c.1559G>A (p.Arg520His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.92719168G>ACA5126547BICD2c.1477C>T (p.Arg493Cys)
c.1558C>T (p.Arg520Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.92719168G>CCA374037862BICD2c.1477C>G (p.Arg493Gly)
c.1558C>G (p.Arg520Gly)
9g.92719168G=CA1864361829BICD2c.1477C= (p.Arg493=)
c.1558C= (p.Arg520=)
9g.92719168G>TCA374037864BICD2c.1477C>A (p.Arg493Ser)
c.1558C>A (p.Arg520Ser)
9g.92719169G>ACA466342810BICD2c.1476C>T (p.Ser492=)
c.1557C>T (p.Ser519=)
 gnomAD v4
9g.92719169G>CCA374037869BICD2c.1476C>G (p.Ser492Arg)
c.1557C>G (p.Ser519Arg)
9g.92719169G>TCA374037867BICD2c.1476C>A (p.Ser492Arg)
c.1557C>A (p.Ser519Arg)
 gnomAD v4
9g.92719170C>ACA374037872BICD2c.1475G>T (p.Ser492Ile)
c.1556G>T (p.Ser519Ile)
9g.92719170C>GCA374037880BICD2c.1475G>C (p.Ser492Thr)
c.1556G>C (p.Ser519Thr)
 dbSNP
9g.92719170C>TCA374037874BICD2c.1475G>A (p.Ser492Asn)
c.1556G>A (p.Ser519Asn)
 gnomAD v4
9g.92719171T>ACA374037884BICD2c.1474A>T (p.Ser492Cys)
c.1555A>T (p.Ser519Cys)
9g.92719171T>CCA374037886BICD2c.1474A>G (p.Ser492Gly)
c.1555A>G (p.Ser519Gly)
 dbSNP gnomAD v4
9g.92719171T>GCA374037885BICD2c.1474A>C (p.Ser492Arg)
c.1555A>C (p.Ser519Arg)
9g.92719172G>ACA466342814BICD2c.1473C>T (p.Ala491=)
c.1554C>T (p.Ala518=)
 ClinVar gnomAD v4
9g.92719172G>CCA466342815BICD2c.1473C>G (p.Ala491=)
c.1554C>G (p.Ala518=)
9g.92719172G>TCA466342816BICD2c.1473C>A (p.Ala491=)
c.1554C>A (p.Ala518=)
9g.92719173G>ACA374037887BICD2c.1472C>T (p.Ala491Val)
c.1553C>T (p.Ala518Val)
9g.92719173G>CCA374037889BICD2c.1472C>G (p.Ala491Gly)
c.1553C>G (p.Ala518Gly)
9g.92719173G>TCA374037888BICD2c.1472C>A (p.Ala491Asp)
c.1553C>A (p.Ala518Asp)
9g.92719174C>ACA5126548BICD2c.1471G>T (p.Ala491Ser)
c.1552G>T (p.Ala518Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.92719174C=CA1864361835BICD2c.1471G= (p.Ala491=)
c.1552G= (p.Ala518=)
9g.92719174C>GCA374037895BICD2c.1471G>C (p.Ala491Pro)
c.1552G>C (p.Ala518Pro)
9g.92719174C>TCA374037900BICD2c.1471G>A (p.Ala491Thr)
c.1552G>A (p.Ala518Thr)
9g.92719175C>ACA374037903BICD2c.1470G>T (p.Lys490Asn)
c.1551G>T (p.Lys517Asn)
 gnomAD v4 COSMIC
9g.92719175C>GCA374037905BICD2c.1470G>C (p.Lys490Asn)
c.1551G>C (p.Lys517Asn)
9g.92719175C>TCA466342819BICD2c.1470G>A (p.Lys490=)
c.1551G>A (p.Lys517=)
9g.92719176T>ACA374037911BICD2c.1469A>T (p.Lys490Met)
c.1550A>T (p.Lys517Met)
9g.92719176T>CCA374037910BICD2c.1469A>G (p.Lys490Arg)
c.1550A>G (p.Lys517Arg)
9g.92719176T>GCA374037908BICD2c.1469A>C (p.Lys490Thr)
c.1550A>C (p.Lys517Thr)
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

Number of alleles fetched