Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.98393909_98399093delCA2499216316CNGA3c.785-1935_*1838del
c.839-1935_*1838del
 ClinVar
2g.98396748G>ACA427820176CNGA3c.1578G>A (p.Lys526=)
c.1590G>A (p.Lys530=)
c.1524G>A (p.Lys508=)
c.1689G>A (p.Lys563=)
c.1743G>A (p.Lys581=)
 gnomAD v4
2g.98396748G>CCA1794041CNGA3c.1578G>C (p.Lys526Asn)
c.1590G>C (p.Lys530Asn)
c.1524G>C (p.Lys508Asn)
c.1689G>C (p.Lys563Asn)
c.1743G>C (p.Lys581Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396748G=CA1273420047CNGA3c.1578G= (p.Lys526=)
c.1590G= (p.Lys530=)
c.1524G= (p.Lys508=)
c.1689G= (p.Lys563=)
c.1743G= (p.Lys581=)
2g.98396748G>TCA347833850CNGA3c.1578G>T (p.Lys526Asn)
c.1590G>T (p.Lys530Asn)
c.1524G>T (p.Lys508Asn)
c.1689G>T (p.Lys563Asn)
c.1743G>T (p.Lys581Asn)
 COSMIC
2g.98396749C>ACA347833851CNGA3c.1579C>A (p.Leu527Met)
c.1591C>A (p.Leu531Met)
c.1525C>A (p.Leu509Met)
c.1690C>A (p.Leu564Met)
c.1744C>A (p.Leu582Met)
 ClinVar dbSNP gnomAD v4
2g.98396749C=CA1273420048CNGA3c.1579C= (p.Leu527=)
c.1591C= (p.Leu531=)
c.1525C= (p.Leu509=)
c.1690C= (p.Leu564=)
c.1744C= (p.Leu582=)
2g.98396749C>GCA347833852CNGA3c.1579C>G (p.Leu527Val)
c.1591C>G (p.Leu531Val)
c.1525C>G (p.Leu509Val)
c.1690C>G (p.Leu564Val)
c.1744C>G (p.Leu582Val)
2g.98396749C>TCA1794042CNGA3c.1579C>T (p.Leu527=)
c.1591C>T (p.Leu531=)
c.1525C>T (p.Leu509=)
c.1690C>T (p.Leu564=)
c.1744C>T (p.Leu582=)
 dbSNP ExAC gnomAD v2
2g.98396750T>ACA347833854CNGA3c.1580T>A (p.Leu527Gln)
c.1592T>A (p.Leu531Gln)
c.1526T>A (p.Leu509Gln)
c.1691T>A (p.Leu564Gln)
c.1745T>A (p.Leu582Gln)
2g.98396750T>CCA347833853CNGA3c.1580T>C (p.Leu527Pro)
c.1592T>C (p.Leu531Pro)
c.1526T>C (p.Leu509Pro)
c.1691T>C (p.Leu564Pro)
c.1745T>C (p.Leu582Pro)
 ClinVar dbSNP COSMIC
2g.98396750T>GCA1794043CNGA3c.1580T>G (p.Leu527Arg)
c.1592T>G (p.Leu531Arg)
c.1526T>G (p.Leu509Arg)
c.1691T>G (p.Leu564Arg)
c.1745T>G (p.Leu582Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396750T=CA1273420049CNGA3c.1580T= (p.Leu527=)
c.1592T= (p.Leu531=)
c.1526T= (p.Leu509=)
c.1691T= (p.Leu564=)
c.1745T= (p.Leu582=)
2g.98396751G>ACA427820183CNGA3c.1581G>A (p.Leu527=)
c.1593G>A (p.Leu531=)
c.1527G>A (p.Leu509=)
c.1692G>A (p.Leu564=)
c.1746G>A (p.Leu582=)
2g.98396751G>CCA427820184CNGA3c.1581G>C (p.Leu527=)
c.1593G>C (p.Leu531=)
c.1527G>C (p.Leu509=)
c.1692G>C (p.Leu564=)
c.1746G>C (p.Leu582=)
2g.98396751G>TCA427820185CNGA3c.1581G>T (p.Leu527=)
c.1593G>T (p.Leu531=)
c.1527G>T (p.Leu509=)
c.1692G>T (p.Leu564=)
c.1746G>T (p.Leu582=)
2g.98396752G>ACA347833855CNGA3c.1582G>A (p.Ala528Thr)
c.1594G>A (p.Ala532Thr)
c.1528G>A (p.Ala510Thr)
c.1693G>A (p.Ala565Thr)
c.1747G>A (p.Ala583Thr)
2g.98396752G>CCA347833856CNGA3c.1582G>C (p.Ala528Pro)
c.1594G>C (p.Ala532Pro)
c.1528G>C (p.Ala510Pro)
c.1693G>C (p.Ala565Pro)
c.1747G>C (p.Ala583Pro)
2g.98396752G>TCA347833857CNGA3c.1582G>T (p.Ala528Ser)
c.1594G>T (p.Ala532Ser)
c.1528G>T (p.Ala510Ser)
c.1693G>T (p.Ala565Ser)
c.1747G>T (p.Ala583Ser)
2g.98396753C>ACA347833858CNGA3c.1583C>A (p.Ala528Asp)
c.1595C>A (p.Ala532Asp)
c.1529C>A (p.Ala510Asp)
c.1694C>A (p.Ala565Asp)
c.1748C>A (p.Ala583Asp)
2g.98396753C>GCA347833859CNGA3c.1583C>G (p.Ala528Gly)
c.1595C>G (p.Ala532Gly)
c.1529C>G (p.Ala510Gly)
c.1694C>G (p.Ala565Gly)
c.1748C>G (p.Ala583Gly)
2g.98396753C>TCA347833860CNGA3c.1583C>T (p.Ala528Val)
c.1595C>T (p.Ala532Val)
c.1529C>T (p.Ala510Val)
c.1694C>T (p.Ala565Val)
c.1748C>T (p.Ala583Val)
 COSMIC
2g.98396754C>ACA427820191CNGA3c.1584C>A (p.Ala528=)
c.1596C>A (p.Ala532=)
c.1530C>A (p.Ala510=)
c.1695C>A (p.Ala565=)
c.1749C>A (p.Ala583=)
 ClinVar dbSNP gnomAD v4
2g.98396754C=CA1273420050CNGA3c.1584C= (p.Ala528=)
c.1596C= (p.Ala532=)
c.1530C= (p.Ala510=)
c.1695C= (p.Ala565=)
c.1749C= (p.Ala583=)
2g.98396754C>GCA427820193CNGA3c.1584C>G (p.Ala528=)
c.1596C>G (p.Ala532=)
c.1530C>G (p.Ala510=)
c.1695C>G (p.Ala565=)
c.1749C>G (p.Ala583=)
2g.98396754C>TCA1794044CNGA3c.1584C>T (p.Ala528=)
c.1596C>T (p.Ala532=)
c.1530C>T (p.Ala510=)
c.1695C>T (p.Ala565=)
c.1749C>T (p.Ala583=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
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)

Number of alleles fetched