Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.210600636C>ACA2086412CPS1c.1631C>A (p.Thr544Lys)
c.1649C>A (p.Thr550Lys)
c.278C>A (p.Thr93Lys)
c.111C>A
n.776C>A
c.1664C>A (p.Thr555Lys)
n.2540C>A
n.787C>A
 dbSNP ExAC gnomAD v2
2g.210600636C=CA1325076690CPS1c.1631C= (p.Thr544=)
c.1649C= (p.Thr550=)
c.278C= (p.Thr93=)
c.111C=
n.776C=
c.1664C= (p.Thr555=)
n.2540C=
n.787C=
2g.210600636C>GCA350436789CPS1c.1631C>G (p.Thr544Arg)
c.1649C>G (p.Thr550Arg)
c.278C>G (p.Thr93Arg)
c.111C>G
n.776C>G
c.1664C>G (p.Thr555Arg)
n.2540C>G
n.787C>G
2g.210600636C>TCA115525CPS1c.1631C>T (p.Thr544Met)
c.1649C>T (p.Thr550Met)
c.278C>T (p.Thr93Met)
c.111C>T
n.776C>T
c.1664C>T (p.Thr555Met)
n.2540C>T
n.787C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210600637G>ACA2086413CPS1c.1632G>A (p.Thr544=)
c.1650G>A (p.Thr550=)
c.279G>A (p.Thr93=)
c.112G>A
n.777G>A
c.1665G>A (p.Thr555=)
n.2541G>A
n.788G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.210600637G>CCA431012241CPS1c.1632G>C (p.Thr544=)
c.1650G>C (p.Thr550=)
c.279G>C (p.Thr93=)
c.112G>C
n.777G>C
c.1665G>C (p.Thr555=)
n.2541G>C
n.788G>C
2g.210600637G=CA1325076691CPS1c.1632G= (p.Thr544=)
c.1650G= (p.Thr550=)
c.279G= (p.Thr93=)
c.112G=
n.777G=
c.1665G= (p.Thr555=)
n.2541G=
n.788G=
2g.210600637G>TCA431012242CPS1c.1632G>T (p.Thr544=)
c.1650G>T (p.Thr550=)
c.279G>T (p.Thr93=)
c.112G>T
n.777G>T
c.1665G>T (p.Thr555=)
n.2541G>T
n.788G>T
 dbSNP gnomAD v4
2g.210600638G>ACA350436792CPS1c.1633G>A (p.Glu545Lys)
c.1651G>A (p.Glu551Lys)
c.280G>A (p.Glu94Lys)
c.113G>A
n.778G>A
c.1666G>A (p.Glu556Lys)
n.2542G>A
n.789G>A
2g.210600638G>CCA350436791CPS1c.1633G>C (p.Glu545Gln)
c.1651G>C (p.Glu551Gln)
c.280G>C (p.Glu94Gln)
c.113G>C
n.778G>C
c.1666G>C (p.Glu556Gln)
n.2542G>C
n.789G>C
2g.210600638G>TCA350436790CPS1c.1633G>T (p.Glu545Ter)
c.1651G>T (p.Glu551Ter)
c.280G>T (p.Glu94Ter)
c.113G>T
n.778G>T
c.1666G>T (p.Glu556Ter)
n.2542G>T
n.789G>T
2g.210600639A>CCA350436795CPS1c.1634A>C (p.Glu545Ala)
c.1652A>C (p.Glu551Ala)
c.281A>C (p.Glu94Ala)
c.114A>C
n.779A>C
c.1667A>C (p.Glu556Ala)
n.2543A>C
n.790A>C
2g.210600639A>GCA350436793CPS1c.1634A>G (p.Glu545Gly)
c.1652A>G (p.Glu551Gly)
c.281A>G (p.Glu94Gly)
c.114A>G
n.779A>G
c.1667A>G (p.Glu556Gly)
n.2543A>G
n.790A>G
2g.210600639A>TCA350436794CPS1c.1634A>T (p.Glu545Val)
c.1652A>T (p.Glu551Val)
c.281A>T (p.Glu94Val)
c.114A>T
n.779A>T
c.1667A>T (p.Glu556Val)
n.2543A>T
n.790A>T
2g.210600640A>CCA350436796CPS1c.1635A>C (p.Glu545Asp)
c.1653A>C (p.Glu551Asp)
c.282A>C (p.Glu94Asp)
c.115A>C
n.780A>C
c.1668A>C (p.Glu556Asp)
n.2544A>C
n.791A>C
2g.210600640A>GCA431012243CPS1c.1635A>G (p.Glu545=)
c.1653A>G (p.Glu551=)
c.282A>G (p.Glu94=)
c.115A>G
n.780A>G
c.1668A>G (p.Glu556=)
n.2544A>G
n.791A>G
2g.210600640A>TCA350436797CPS1c.1635A>T (p.Glu545Asp)
c.1653A>T (p.Glu551Asp)
c.282A>T (p.Glu94Asp)
c.115A>T
n.780A>T
c.1668A>T (p.Glu556Asp)
n.2544A>T
n.791A>T
2g.210600641G>ACA350436798CPS1c.1636G>A (p.Asp546Asn)
c.1654G>A (p.Asp552Asn)
c.283G>A (p.Asp95Asn)
c.116G>A
n.781G>A
c.1669G>A (p.Asp557Asn)
n.2545G>A
n.792G>A
 gnomAD v4
2g.210600641G>CCA350436799CPS1c.1636G>C (p.Asp546His)
c.1654G>C (p.Asp552His)
c.283G>C (p.Asp95His)
c.116G>C
n.781G>C
c.1669G>C (p.Asp557His)
n.2545G>C
n.792G>C
2g.210600641G>TCA350436800CPS1c.1636G>T (p.Asp546Tyr)
c.1654G>T (p.Asp552Tyr)
c.283G>T (p.Asp95Tyr)
c.116G>T
n.781G>T
c.1669G>T (p.Asp557Tyr)
n.2545G>T
n.792G>T
2g.210600642A>CCA350436802CPS1c.1637A>C (p.Asp546Ala)
c.1655A>C (p.Asp552Ala)
c.284A>C (p.Asp95Ala)
c.117A>C
n.782A>C
c.1670A>C (p.Asp557Ala)
n.2546A>C
n.793A>C
2g.210600642A>GCA350436806CPS1c.1637A>G (p.Asp546Gly)
c.1655A>G (p.Asp552Gly)
c.284A>G (p.Asp95Gly)
c.117A>G
n.782A>G
c.1670A>G (p.Asp557Gly)
n.2546A>G
n.793A>G
2g.210600642A>TCA350436804CPS1c.1637A>T (p.Asp546Val)
c.1655A>T (p.Asp552Val)
c.284A>T (p.Asp95Val)
c.117A>T
n.782A>T
c.1670A>T (p.Asp557Val)
n.2546A>T
n.793A>T
2g.210600643C>ACA350436809CPS1c.1638C>A (p.Asp546Glu)
c.1656C>A (p.Asp552Glu)
c.285C>A (p.Asp95Glu)
c.118C>A
n.783C>A
c.1671C>A (p.Asp557Glu)
n.2547C>A
n.794C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.210600643C=CA1325076692CPS1c.1638C= (p.Asp546=)
c.1656C= (p.Asp552=)
c.285C= (p.Asp95=)
c.118C=
n.783C=
c.1671C= (p.Asp557=)
n.2547C=
n.794C=
2g.210600643C>GCA350436811CPS1c.1638C>G (p.Asp546Glu)
c.1656C>G (p.Asp552Glu)
c.285C>G (p.Asp95Glu)
c.118C>G
n.783C>G
c.1671C>G (p.Asp557Glu)
n.2547C>G
n.794C>G
2g.210600643C>TCA431012245CPS1c.1638C>T (p.Asp546=)
c.1656C>T (p.Asp552=)
c.285C>T (p.Asp95=)
c.118C>T
n.783C>T
c.1671C>T (p.Asp557=)
n.2547C>T
n.794C>T
 ClinVar dbSNP
2g.210600644A=CA1325076693CPS1c.1639A= (p.Arg547=)
c.1657A= (p.Arg553=)
c.286A= (p.Arg96=)
c.119A=
n.784A=
c.1672A= (p.Arg558=)
n.2548A=
n.795A=
2g.210600644A>CCA431012246CPS1c.1639A>C (p.Arg547=)
c.1657A>C (p.Arg553=)
c.286A>C (p.Arg96=)
c.119A>C
n.784A>C
c.1672A>C (p.Arg558=)
n.2548A>C
n.795A>C
2g.210600644A>GCA350436814CPS1c.1639A>G (p.Arg547Gly)
c.1657A>G (p.Arg553Gly)
c.286A>G (p.Arg96Gly)
c.119A>G
n.784A>G
c.1672A>G (p.Arg558Gly)
n.2548A>G
n.795A>G
2g.210600644A>TCA2086414CPS1c.1639A>T (p.Arg547Trp)
c.1657A>T (p.Arg553Trp)
c.286A>T (p.Arg96Trp)
c.119A>T
n.784A>T
c.1672A>T (p.Arg558Trp)
n.2548A>T
n.795A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.210600645G>ACA350436818CPS1c.1640G>A (p.Arg547Lys)
c.1658G>A (p.Arg553Lys)
c.287G>A (p.Arg96Lys)
c.120G>A
n.785G>A
c.1673G>A (p.Arg558Lys)
n.2549G>A
n.796G>A
 COSMIC
2g.210600645G>CCA350436821CPS1c.1640G>C (p.Arg547Thr)
c.1658G>C (p.Arg553Thr)
c.287G>C (p.Arg96Thr)
c.120G>C
n.785G>C
c.1673G>C (p.Arg558Thr)
n.2549G>C
n.796G>C
2g.210600645G>TCA350436819CPS1c.1640G>T (p.Arg547Met)
c.1658G>T (p.Arg553Met)
c.287G>T (p.Arg96Met)
c.120G>T
n.785G>T
c.1673G>T (p.Arg558Met)
n.2549G>T
n.796G>T
2g.210600646G>ACA431012247CPS1c.1641G>A (p.Arg547=)
c.1659G>A (p.Arg553=)
c.288G>A (p.Arg96=)
c.121G>A
n.786G>A
c.1674G>A (p.Arg558=)
n.2550G>A
n.797G>A
 dbSNP gnomAD v4
2g.210600646G>CCA350436823CPS1c.1641G>C (p.Arg547Ser)
c.1659G>C (p.Arg553Ser)
c.288G>C (p.Arg96Ser)
c.121G>C
n.786G>C
c.1674G>C (p.Arg558Ser)
n.2550G>C
n.797G>C
2g.210600646G=CA1325076694CPS1c.1641G= (p.Arg547=)
c.1659G= (p.Arg553=)
c.288G= (p.Arg96=)
c.121G=
n.786G=
c.1674G= (p.Arg558=)
n.2550G=
n.797G=
2g.210600646G>TCA350436824CPS1c.1641G>T (p.Arg547Ser)
c.1659G>T (p.Arg553Ser)
c.288G>T (p.Arg96Ser)
c.121G>T
n.786G>T
c.1674G>T (p.Arg558Ser)
n.2550G>T
n.797G>T
 gnomAD v4
2g.210600647C>ACA350436828CPS1c.1642C>A (p.Gln548Lys)
c.1660C>A (p.Gln554Lys)
c.289C>A (p.Gln97Lys)
c.122C>A
n.787C>A
c.1675C>A (p.Gln559Lys)
n.2551C>A
n.798C>A
2g.210600647C>GCA350436829CPS1c.1642C>G (p.Gln548Glu)
c.1660C>G (p.Gln554Glu)
c.289C>G (p.Gln97Glu)
c.122C>G
n.787C>G
c.1675C>G (p.Gln559Glu)
n.2551C>G
n.798C>G
2g.210600647C>TCA350436831CPS1c.1642C>T (p.Gln548Ter)
c.1660C>T (p.Gln554Ter)
c.289C>T (p.Gln97Ter)
c.122C>T
n.787C>T
c.1675C>T (p.Gln559Ter)
n.2551C>T
n.798C>T
2g.210600648A=CA1325076695CPS1c.1643A= (p.Gln548=)
c.1661A= (p.Gln554=)
c.290A= (p.Gln97=)
c.123A=
n.788A=
c.1676A= (p.Gln559=)
n.2552A=
n.799A=
2g.210600648A>CCA350436834CPS1c.1643A>C (p.Gln548Pro)
c.1661A>C (p.Gln554Pro)
c.290A>C (p.Gln97Pro)
c.123A>C
n.788A>C
c.1676A>C (p.Gln559Pro)
n.2552A>C
n.799A>C
 COSMIC COSMIC
2g.210600648A>GCA350436835CPS1c.1643A>G (p.Gln548Arg)
c.1661A>G (p.Gln554Arg)
c.290A>G (p.Gln97Arg)
c.123A>G
n.788A>G
c.1676A>G (p.Gln559Arg)
n.2552A>G
n.799A>G
 dbSNP
2g.210600648A>TCA350436837CPS1c.1643A>T (p.Gln548Leu)
c.1661A>T (p.Gln554Leu)
c.290A>T (p.Gln97Leu)
c.123A>T
n.788A>T
c.1676A>T (p.Gln559Leu)
n.2552A>T
n.799A>T
2g.210600649G>ACA431012248CPS1c.1644G>A (p.Gln548=)
c.1662G>A (p.Gln554=)
c.291G>A (p.Gln97=)
c.124G>A
n.789G>A
c.1677G>A (p.Gln559=)
n.2553G>A
n.800G>A
 gnomAD v4
2g.210600649G>CCA350436840CPS1c.1644G>C (p.Gln548His)
c.1662G>C (p.Gln554His)
c.291G>C (p.Gln97His)
c.124G>C
n.789G>C
c.1677G>C (p.Gln559His)
n.2553G>C
n.800G>C
2g.210600649G>TCA350436843CPS1c.1644G>T (p.Gln548His)
c.1662G>T (p.Gln554His)
c.291G>T (p.Gln97His)
c.124G>T
n.789G>T
c.1677G>T (p.Gln559His)
n.2553G>T
n.800G>T
2g.210600650C>ACA350436845CPS1c.1645C>A (p.Leu549Met)
c.1663C>A (p.Leu555Met)
c.292C>A (p.Leu98Met)
c.125C>A
n.790C>A
c.1678C>A (p.Leu560Met)
n.2554C>A
n.801C>A
2g.210600650C>GCA350436846CPS1c.1645C>G (p.Leu549Val)
c.1663C>G (p.Leu555Val)
c.292C>G (p.Leu98Val)
c.125C>G
n.790C>G
c.1678C>G (p.Leu560Val)
n.2554C>G
n.801C>G

Number of alleles fetched