Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.98393909_98399093delCA2499216316CNGA3c.785-1935_*1838del
c.839-1935_*1838del
 ClinVar
2g.98396755G>ACA254826CNGA3c.1585G>A (p.Val529Met)
c.1597G>A (p.Val533Met)
c.1531G>A (p.Val511Met)
c.1696G>A (p.Val566Met)
c.1750G>A (p.Val584Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396755G>CCA347833861CNGA3c.1585G>C (p.Val529Leu)
c.1597G>C (p.Val533Leu)
c.1531G>C (p.Val511Leu)
c.1696G>C (p.Val566Leu)
c.1750G>C (p.Val584Leu)
 gnomAD v4
2g.98396755G=CA1273420051CNGA3c.1585G= (p.Val529=)
c.1597G= (p.Val533=)
c.1531G= (p.Val511=)
c.1696G= (p.Val566=)
c.1750G= (p.Val584=)
2g.98396755G>TCA347833862CNGA3c.1585G>T (p.Val529Leu)
c.1597G>T (p.Val533Leu)
c.1531G>T (p.Val511Leu)
c.1696G>T (p.Val566Leu)
c.1750G>T (p.Val584Leu)
 COSMIC
2g.98396756T>ACA347833863CNGA3c.1586T>A (p.Val529Glu)
c.1598T>A (p.Val533Glu)
c.1532T>A (p.Val511Glu)
c.1697T>A (p.Val566Glu)
c.1751T>A (p.Val584Glu)
2g.98396756T>CCA52635874CNGA3c.1586T>C (p.Val529Ala)
c.1598T>C (p.Val533Ala)
c.1532T>C (p.Val511Ala)
c.1697T>C (p.Val566Ala)
c.1751T>C (p.Val584Ala)
 dbSNP
2g.98396756T>GCA347833864CNGA3c.1586T>G (p.Val529Gly)
c.1598T>G (p.Val533Gly)
c.1532T>G (p.Val511Gly)
c.1697T>G (p.Val566Gly)
c.1751T>G (p.Val584Gly)
2g.98396756T=CA1273420052CNGA3c.1586T= (p.Val529=)
c.1598T= (p.Val533=)
c.1532T= (p.Val511=)
c.1697T= (p.Val566=)
c.1751T= (p.Val584=)
2g.98396757G>ACA427820195CNGA3c.1587G>A (p.Val529=)
c.1599G>A (p.Val533=)
c.1533G>A (p.Val511=)
c.1698G>A (p.Val566=)
c.1752G>A (p.Val584=)
 gnomAD v4
2g.98396757G>CCA427820197CNGA3c.1587G>C (p.Val529=)
c.1599G>C (p.Val533=)
c.1533G>C (p.Val511=)
c.1698G>C (p.Val566=)
c.1752G>C (p.Val584=)
2g.98396757G>TCA427820198CNGA3c.1587G>T (p.Val529=)
c.1599G>T (p.Val533=)
c.1533G>T (p.Val511=)
c.1698G>T (p.Val566=)
c.1752G>T (p.Val584=)
2g.98396758G>ACA347833866CNGA3c.1588G>A (p.Val530Met)
c.1600G>A (p.Val534Met)
c.1534G>A (p.Val512Met)
c.1699G>A (p.Val567Met)
c.1753G>A (p.Val585Met)
2g.98396758G>CCA347833867CNGA3c.1588G>C (p.Val530Leu)
c.1600G>C (p.Val534Leu)
c.1534G>C (p.Val512Leu)
c.1699G>C (p.Val567Leu)
c.1753G>C (p.Val585Leu)
2g.98396758G=CA1273420053CNGA3c.1588G= (p.Val530=)
c.1600G= (p.Val534=)
c.1534G= (p.Val512=)
c.1699G= (p.Val567=)
c.1753G= (p.Val585=)
2g.98396758G>TCA347833865CNGA3c.1588G>T (p.Val530Leu)
c.1600G>T (p.Val534Leu)
c.1534G>T (p.Val512Leu)
c.1699G>T (p.Val567Leu)
c.1753G>T (p.Val585Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.98396759T>ACA347833869CNGA3c.1589T>A (p.Val530Glu)
c.1601T>A (p.Val534Glu)
c.1535T>A (p.Val512Glu)
c.1700T>A (p.Val567Glu)
c.1754T>A (p.Val585Glu)
2g.98396759T>CCA347833868CNGA3c.1589T>C (p.Val530Ala)
c.1601T>C (p.Val534Ala)
c.1535T>C (p.Val512Ala)
c.1700T>C (p.Val567Ala)
c.1754T>C (p.Val585Ala)
2g.98396759T>GCA347833870CNGA3c.1589T>G (p.Val530Gly)
c.1601T>G (p.Val534Gly)
c.1535T>G (p.Val512Gly)
c.1700T>G (p.Val567Gly)
c.1754T>G (p.Val585Gly)
2g.98396760G>ACA427820204CNGA3c.1590G>A (p.Val530=)
c.1602G>A (p.Val534=)
c.1536G>A (p.Val512=)
c.1701G>A (p.Val567=)
c.1755G>A (p.Val585=)
 dbSNP gnomAD v4
2g.98396760G>CCA427820207CNGA3c.1590G>C (p.Val530=)
c.1602G>C (p.Val534=)
c.1536G>C (p.Val512=)
c.1701G>C (p.Val567=)
c.1755G>C (p.Val585=)
2g.98396760G=CA1273420054CNGA3c.1590G= (p.Val530=)
c.1602G= (p.Val534=)
c.1536G= (p.Val512=)
c.1701G= (p.Val567=)
c.1755G= (p.Val585=)
2g.98396760G>TCA427820208CNGA3c.1590G>T (p.Val530=)
c.1602G>T (p.Val534=)
c.1536G>T (p.Val512=)
c.1701G>T (p.Val567=)
c.1755G>T (p.Val585=)
2g.98396761G>ACA347833871CNGA3c.1591G>A (p.Ala531Thr)
c.1603G>A (p.Ala535Thr)
c.1537G>A (p.Ala513Thr)
c.1702G>A (p.Ala568Thr)
c.1756G>A (p.Ala586Thr)
2g.98396761G>CCA347833872CNGA3c.1591G>C (p.Ala531Pro)
c.1603G>C (p.Ala535Pro)
c.1537G>C (p.Ala513Pro)
c.1702G>C (p.Ala568Pro)
c.1756G>C (p.Ala586Pro)
2g.98396761G>TCA347833873CNGA3c.1591G>T (p.Ala531Ser)
c.1603G>T (p.Ala535Ser)
c.1537G>T (p.Ala513Ser)
c.1702G>T (p.Ala568Ser)
c.1756G>T (p.Ala586Ser)
2g.98396762C>ACA347833874CNGA3c.1592C>A (p.Ala531Asp)
c.1604C>A (p.Ala535Asp)
c.1538C>A (p.Ala513Asp)
c.1703C>A (p.Ala568Asp)
c.1757C>A (p.Ala586Asp)
2g.98396762C=CA1273420055CNGA3c.1592C= (p.Ala531=)
c.1604C= (p.Ala535=)
c.1538C= (p.Ala513=)
c.1703C= (p.Ala568=)
c.1757C= (p.Ala586=)
2g.98396762C>GCA347833875CNGA3c.1592C>G (p.Ala531Gly)
c.1604C>G (p.Ala535Gly)
c.1538C>G (p.Ala513Gly)
c.1703C>G (p.Ala568Gly)
c.1757C>G (p.Ala586Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.98396762C>TCA347833876CNGA3c.1592C>T (p.Ala531Val)
c.1604C>T (p.Ala535Val)
c.1538C>T (p.Ala513Val)
c.1703C>T (p.Ala568Val)
c.1757C>T (p.Ala586Val)
2g.98396763T>ACA427820213CNGA3c.1593T>A (p.Ala531=)
c.1605T>A (p.Ala535=)
c.1539T>A (p.Ala513=)
c.1704T>A (p.Ala568=)
c.1758T>A (p.Ala586=)
 COSMIC
2g.98396763T>CCA52635877CNGA3c.1593T>C (p.Ala531=)
c.1605T>C (p.Ala535=)
c.1539T>C (p.Ala513=)
c.1704T>C (p.Ala568=)
c.1758T>C (p.Ala586=)
 dbSNP gnomAD v4
2g.98396763T>GCA427820215CNGA3c.1593T>G (p.Ala531=)
c.1605T>G (p.Ala535=)
c.1539T>G (p.Ala513=)
c.1704T>G (p.Ala568=)
c.1758T>G (p.Ala586=)
2g.98396763T=CA1273420056CNGA3c.1593T= (p.Ala531=)
c.1605T= (p.Ala535=)
c.1539T= (p.Ala513=)
c.1704T= (p.Ala568=)
c.1758T= (p.Ala586=)
2g.98396764G>ACA347833877CNGA3c.1594G>A (p.Asp532Asn)
c.1606G>A (p.Asp536Asn)
c.1540G>A (p.Asp514Asn)
c.1705G>A (p.Asp569Asn)
c.1759G>A (p.Asp587Asn)
 gnomAD v4 COSMIC
2g.98396764G>CCA347833878CNGA3c.1594G>C (p.Asp532His)
c.1606G>C (p.Asp536His)
c.1540G>C (p.Asp514His)
c.1705G>C (p.Asp569His)
c.1759G>C (p.Asp587His)
2g.98396764G>TCA347833879CNGA3c.1594G>T (p.Asp532Tyr)
c.1606G>T (p.Asp536Tyr)
c.1540G>T (p.Asp514Tyr)
c.1705G>T (p.Asp569Tyr)
c.1759G>T (p.Asp587Tyr)
2g.98396765A=CA1273420057CNGA3c.1595A= (p.Asp532=)
c.1607A= (p.Asp536=)
c.1541A= (p.Asp514=)
c.1706A= (p.Asp569=)
c.1760A= (p.Asp587=)
2g.98396765A>CCA347833880CNGA3c.1595A>C (p.Asp532Ala)
c.1607A>C (p.Asp536Ala)
c.1541A>C (p.Asp514Ala)
c.1706A>C (p.Asp569Ala)
c.1760A>C (p.Asp587Ala)
2g.98396765A>GCA347833881CNGA3c.1595A>G (p.Asp532Gly)
c.1607A>G (p.Asp536Gly)
c.1541A>G (p.Asp514Gly)
c.1706A>G (p.Asp569Gly)
c.1760A>G (p.Asp587Gly)
2g.98396765A>TCA347833882CNGA3c.1595A>T (p.Asp532Val)
c.1607A>T (p.Asp536Val)
c.1541A>T (p.Asp514Val)
c.1706A>T (p.Asp569Val)
c.1760A>T (p.Asp587Val)
 ClinVar dbSNP gnomAD v4
2g.98396766T>ACA347833883CNGA3c.1596T>A (p.Asp532Glu)
c.1608T>A (p.Asp536Glu)
c.1542T>A (p.Asp514Glu)
c.1707T>A (p.Asp569Glu)
c.1761T>A (p.Asp587Glu)
2g.98396766T>CCA427820219CNGA3c.1596T>C (p.Asp532=)
c.1608T>C (p.Asp536=)
c.1542T>C (p.Asp514=)
c.1707T>C (p.Asp569=)
c.1761T>C (p.Asp587=)
 ClinVar
2g.98396766T>GCA347833884CNGA3c.1596T>G (p.Asp532Glu)
c.1608T>G (p.Asp536Glu)
c.1542T>G (p.Asp514Glu)
c.1707T>G (p.Asp569Glu)
c.1761T>G (p.Asp587Glu)
2g.98396767G>ACA1794045CNGA3c.1597G>A (p.Asp533Asn)
c.1609G>A (p.Asp537Asn)
c.1543G>A (p.Asp515Asn)
c.1708G>A (p.Asp570Asn)
c.1762G>A (p.Asp588Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396767G>CCA1794046CNGA3c.1597G>C (p.Asp533His)
c.1609G>C (p.Asp537His)
c.1543G>C (p.Asp515His)
c.1708G>C (p.Asp570His)
c.1762G>C (p.Asp588His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396767G=CA1273420058CNGA3c.1597G= (p.Asp533=)
c.1609G= (p.Asp537=)
c.1543G= (p.Asp515=)
c.1708G= (p.Asp570=)
c.1762G= (p.Asp588=)
2g.98396767G>TCA347833885CNGA3c.1597G>T (p.Asp533Tyr)
c.1609G>T (p.Asp537Tyr)
c.1543G>T (p.Asp515Tyr)
c.1708G>T (p.Asp570Tyr)
c.1762G>T (p.Asp588Tyr)
2g.98396768A=CA1273420059CNGA3c.1598A= (p.Asp533=)
c.1610A= (p.Asp537=)
c.1544A= (p.Asp515=)
c.1709A= (p.Asp570=)
c.1763A= (p.Asp588=)
2g.98396768A>CCA347833886CNGA3c.1598A>C (p.Asp533Ala)
c.1610A>C (p.Asp537Ala)
c.1544A>C (p.Asp515Ala)
c.1709A>C (p.Asp570Ala)
c.1763A>C (p.Asp588Ala)

Number of alleles fetched