Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.134408210A=CA1883176791RXRAc.341A= (p.Asn114=)
c.260A= (p.Asn87=)
n.751A=
c.50A= (p.Asn17=)
9g.134408210A>CCA375452238RXRAc.341A>C (p.Asn114Thr)
c.260A>C (p.Asn87Thr)
n.751A>C
c.50A>C (p.Asn17Thr)
9g.134408210A>GCA5317715RXRAc.341A>G (p.Asn114Ser)
c.260A>G (p.Asn87Ser)
n.751A>G
c.50A>G (p.Asn17Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408210A>TCA375452241RXRAc.341A>T (p.Asn114Ile)
c.260A>T (p.Asn87Ile)
n.751A>T
c.50A>T (p.Asn17Ile)
9g.134408211T>ACA375452243RXRAc.342T>A (p.Asn114Lys)
c.261T>A (p.Asn87Lys)
n.752T>A
c.51T>A (p.Asn17Lys)
9g.134408211T>CCA467648614RXRAc.342T>C (p.Asn114=)
c.261T>C (p.Asn87=)
n.752T>C
c.51T>C (p.Asn17=)
gnomAD v4
9g.134408211T>GCA375452245RXRAc.342T>G (p.Asn114Lys)
c.261T>G (p.Asn87Lys)
n.752T>G
c.51T>G (p.Asn17Lys)
9g.134408212G>ACA375452249RXRAc.343G>A (p.Gly115Ser)
c.262G>A (p.Gly88Ser)
n.753G>A
c.52G>A (p.Gly18Ser)
9g.134408212G>CCA375452252RXRAc.343G>C (p.Gly115Arg)
c.262G>C (p.Gly88Arg)
n.753G>C
c.52G>C (p.Gly18Arg)
9g.134408212G>TCA375452251RXRAc.343G>T (p.Gly115Cys)
c.262G>T (p.Gly88Cys)
n.753G>T
c.52G>T (p.Gly18Cys)
9g.134408213G>ACA375452255RXRAc.344G>A (p.Gly115Asp)
c.263G>A (p.Gly88Asp)
n.754G>A
c.53G>A (p.Gly18Asp)
9g.134408213G>CCA375452258RXRAc.344G>C (p.Gly115Ala)
c.263G>C (p.Gly88Ala)
n.754G>C
c.53G>C (p.Gly18Ala)
9g.134408213G=CA1883176792RXRAc.344G= (p.Gly115=)
c.263G= (p.Gly88=)
n.754G=
c.53G= (p.Gly18=)
9g.134408213G>TCA375452261RXRAc.344G>T (p.Gly115Val)
c.263G>T (p.Gly88Val)
n.754G>T
c.53G>T (p.Gly18Val)
dbSNP
9g.134408214C>ACA467648624RXRAc.345C>A (p.Gly115=)
c.264C>A (p.Gly88=)
n.755C>A
c.54C>A (p.Gly18=)
9g.134408214C=CA1883176793RXRAc.345C= (p.Gly115=)
c.264C= (p.Gly88=)
n.755C=
c.54C= (p.Gly18=)
9g.134408214C>GCA467648625RXRAc.345C>G (p.Gly115=)
c.264C>G (p.Gly88=)
n.755C>G
c.54C>G (p.Gly18=)
9g.134408214C>TCA467648627RXRAc.345C>T (p.Gly115=)
c.264C>T (p.Gly88=)
n.755C>T
c.54C>T (p.Gly18=)
dbSNP gnomAD v2 gnomAD v4
9g.134408215G>ACA5317716RXRAc.346G>A (p.Val116Ile)
c.265G>A (p.Val89Ile)
n.756G>A
c.55G>A (p.Val19Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.134408215G>CCA375452266RXRAc.346G>C (p.Val116Leu)
c.265G>C (p.Val89Leu)
n.756G>C
c.55G>C (p.Val19Leu)
9g.134408215G=CA1883176794RXRAc.346G= (p.Val116=)
c.265G= (p.Val89=)
n.756G=
c.55G= (p.Val19=)
9g.134408215G>TCA375452268RXRAc.346G>T (p.Val116Phe)
c.265G>T (p.Val89Phe)
n.756G>T
c.55G>T (p.Val19Phe)
9g.134408216T>ACA375452270RXRAc.347T>A (p.Val116Asp)
c.266T>A (p.Val89Asp)
n.757T>A
c.56T>A (p.Val19Asp)
9g.134408216T>CCA375452272RXRAc.347T>C (p.Val116Ala)
c.266T>C (p.Val89Ala)
n.757T>C
c.56T>C (p.Val19Ala)
9g.134408216T>GCA375452275RXRAc.347T>G (p.Val116Gly)
c.266T>G (p.Val89Gly)
n.757T>G
c.56T>G (p.Val19Gly)
9g.134408217C>ACA467648642RXRAc.348C>A (p.Val116=)
c.267C>A (p.Val89=)
n.758C>A
c.57C>A (p.Val19=)
gnomAD v4
9g.134408217C>GCA467648644RXRAc.348C>G (p.Val116=)
c.267C>G (p.Val89=)
n.758C>G
c.57C>G (p.Val19=)
9g.134408217C>TCA467648647RXRAc.348C>T (p.Val116=)
c.267C>T (p.Val89=)
n.758C>T
c.57C>T (p.Val19=)
9g.134408218C>ACA375452277RXRAc.349C>A (p.Leu117Ile)
c.268C>A (p.Leu90Ile)
n.759C>A
c.58C>A (p.Leu20Ile)
gnomAD v4
9g.134408218C>GCA375452279RXRAc.349C>G (p.Leu117Val)
c.268C>G (p.Leu90Val)
n.759C>G
c.58C>G (p.Leu20Val)
9g.134408218C>TCA375452282RXRAc.349C>T (p.Leu117Phe)
c.268C>T (p.Leu90Phe)
n.759C>T
c.58C>T (p.Leu20Phe)
9g.134408219T>ACA375452285RXRAc.350T>A (p.Leu117His)
c.269T>A (p.Leu90His)
n.760T>A
c.59T>A (p.Leu20His)
9g.134408219T>CCA375452308RXRAc.350T>C (p.Leu117Pro)
c.269T>C (p.Leu90Pro)
n.760T>C
c.59T>C (p.Leu20Pro)
9g.134408219T>GCA375452287RXRAc.350T>G (p.Leu117Arg)
c.269T>G (p.Leu90Arg)
n.760T>G
c.59T>G (p.Leu20Arg)
9g.134408220C>ACA467648659RXRAc.351C>A (p.Leu117=)
c.270C>A (p.Leu90=)
n.761C>A
c.60C>A (p.Leu20=)
9g.134408220C>GCA467648660RXRAc.351C>G (p.Leu117=)
c.270C>G (p.Leu90=)
n.761C>G
c.60C>G (p.Leu20=)
9g.134408220C>TCA467648662RXRAc.351C>T (p.Leu117=)
c.270C>T (p.Leu90=)
n.761C>T
c.60C>T (p.Leu20=)
9g.134408221A>CCA375452310RXRAc.352A>C (p.Lys118Gln)
c.271A>C (p.Lys91Gln)
n.762A>C
c.61A>C (p.Lys21Gln)
9g.134408221A>GCA375452313RXRAc.352A>G (p.Lys118Glu)
c.271A>G (p.Lys91Glu)
n.762A>G
c.61A>G (p.Lys21Glu)
9g.134408221A>TCA375452315RXRAc.352A>T (p.Lys118Ter)
c.271A>T (p.Lys91Ter)
n.762A>T
c.61A>T (p.Lys21Ter)
9g.134408222A>CCA375452319RXRAc.353A>C (p.Lys118Thr)
c.272A>C (p.Lys91Thr)
n.763A>C
c.62A>C (p.Lys21Thr)
9g.134408222A>GCA375452321RXRAc.353A>G (p.Lys118Arg)
c.272A>G (p.Lys91Arg)
n.763A>G
c.62A>G (p.Lys21Arg)
dbSNP gnomAD v4
9g.134408222A>TCA375452324RXRAc.353A>T (p.Lys118Met)
c.272A>T (p.Lys91Met)
n.763A>T
c.62A>T (p.Lys21Met)
9g.134408223G>ACA467648675RXRAc.354G>A (p.Lys118=)
c.273G>A (p.Lys91=)
n.764G>A
c.63G>A (p.Lys21=)
dbSNP
9g.134408223G>CCA375452327RXRAc.354G>C (p.Lys118Asn)
c.273G>C (p.Lys91Asn)
n.764G>C
c.63G>C (p.Lys21Asn)
9g.134408223G=CA1883176795RXRAc.354G= (p.Lys118=)
c.273G= (p.Lys91=)
n.764G=
c.63G= (p.Lys21=)
9g.134408223G>TCA375452330RXRAc.354G>T (p.Lys118Asn)
c.273G>T (p.Lys91Asn)
n.764G>T
c.63G>T (p.Lys21Asn)
9g.134408224G>ACA5317717RXRAc.355G>A (p.Val119Ile)
c.274G>A (p.Val92Ile)
n.765G>A
c.64G>A (p.Val22Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408224G>CCA375452337RXRAc.355G>C (p.Val119Leu)
c.274G>C (p.Val92Leu)
n.765G>C
c.64G>C (p.Val22Leu)
9g.134408224G=CA1883176796RXRAc.355G= (p.Val119=)
c.274G= (p.Val92=)
n.765G=
c.64G= (p.Val22=)
9g.134408224G>TCA375452340RXRAc.355G>T (p.Val119Phe)
c.274G>T (p.Val92Phe)
n.765G>T
c.64G>T (p.Val22Phe)
dbSNP gnomAD v4
9g.134408225T>ACA375452352RXRAc.356T>A (p.Val119Asp)
c.275T>A (p.Val92Asp)
n.766T>A
c.65T>A (p.Val22Asp)
9g.134408225T>CCA375452349RXRAc.356T>C (p.Val119Ala)
c.275T>C (p.Val92Ala)
n.766T>C
c.65T>C (p.Val22Ala)
9g.134408225T>GCA375452342RXRAc.356T>G (p.Val119Gly)
c.275T>G (p.Val92Gly)
n.766T>G
c.65T>G (p.Val22Gly)
9g.134408226C>ACA467648700RXRAc.357C>A (p.Val119=)
c.276C>A (p.Val92=)
n.767C>A
c.66C>A (p.Val22=)
9g.134408226C>GCA467648695RXRAc.357C>G (p.Val119=)
c.276C>G (p.Val92=)
n.767C>G
c.66C>G (p.Val22=)
9g.134408226C>TCA467648708RXRAc.357C>T (p.Val119=)
c.276C>T (p.Val92=)
n.767C>T
c.66C>T (p.Val22=)
9g.134408227C>ACA375452355RXRAc.358C>A (p.Pro120Thr)
c.277C>A (p.Pro93Thr)
n.768C>A
c.67C>A (p.Pro23Thr)
9g.134408227C=CA1883176797RXRAc.358C= (p.Pro120=)
c.277C= (p.Pro93=)
n.768C=
c.67C= (p.Pro23=)
9g.134408227C>GCA375452358RXRAc.358C>G (p.Pro120Ala)
c.277C>G (p.Pro93Ala)
n.768C>G
c.67C>G (p.Pro23Ala)
9g.134408227C>TCA201084264RXRAc.358C>T (p.Pro120Ser)
c.277C>T (p.Pro93Ser)
n.768C>T
c.67C>T (p.Pro23Ser)
dbSNP gnomAD v4
9g.134408228C>ACA375452363RXRAc.359C>A (p.Pro120His)
c.278C>A (p.Pro93His)
n.769C>A
c.68C>A (p.Pro23His)
9g.134408228C=CA1883176798RXRAc.359C= (p.Pro120=)
c.278C= (p.Pro93=)
n.769C=
c.68C= (p.Pro23=)
9g.134408228C>GCA375452366RXRAc.359C>G (p.Pro120Arg)
c.278C>G (p.Pro93Arg)
n.769C>G
c.68C>G (p.Pro23Arg)
9g.134408228C>TCA375452368RXRAc.359C>T (p.Pro120Leu)
c.278C>T (p.Pro93Leu)
n.769C>T
c.68C>T (p.Pro23Leu)
dbSNP
9g.134408229C>ACA467648721RXRAc.360C>A (p.Pro120=)
c.279C>A (p.Pro93=)
n.770C>A
c.69C>A (p.Pro23=)
9g.134408229C=CA1883176799RXRAc.360C= (p.Pro120=)
c.279C= (p.Pro93=)
n.770C=
c.69C= (p.Pro23=)
9g.134408229C>GCA467648723RXRAc.360C>G (p.Pro120=)
c.279C>G (p.Pro93=)
n.770C>G
c.69C>G (p.Pro23=)
9g.134408229C>TCA5317718RXRAc.360C>T (p.Pro120=)
c.279C>T (p.Pro93=)
n.770C>T
c.69C>T (p.Pro23=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408230G>ACA5317719RXRAc.361G>A (p.Ala121Thr)
c.280G>A (p.Ala94Thr)
n.771G>A
c.70G>A (p.Ala24Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.134408230G>CCA375452375RXRAc.361G>C (p.Ala121Pro)
c.280G>C (p.Ala94Pro)
n.771G>C
c.70G>C (p.Ala24Pro)
gnomAD v4
9g.134408230G=CA1883176800RXRAc.361G= (p.Ala121=)
c.280G= (p.Ala94=)
n.771G=
c.70G= (p.Ala24=)
9g.134408230G>TCA375452378RXRAc.361G>T (p.Ala121Ser)
c.280G>T (p.Ala94Ser)
n.771G>T
c.70G>T (p.Ala24Ser)
9g.134408231C>ACA375452380RXRAc.362C>A (p.Ala121Asp)
c.281C>A (p.Ala94Asp)
n.772C>A
c.71C>A (p.Ala24Asp)
9g.134408231C=CA1883176801RXRAc.362C= (p.Ala121=)
c.281C= (p.Ala94=)
n.772C=
c.71C= (p.Ala24=)
9g.134408231C>GCA375452382RXRAc.362C>G (p.Ala121Gly)
c.281C>G (p.Ala94Gly)
n.772C>G
c.71C>G (p.Ala24Gly)
9g.134408231C>TCA375452385RXRAc.362C>T (p.Ala121Val)
c.281C>T (p.Ala94Val)
n.772C>T
c.71C>T (p.Ala24Val)
dbSNP gnomAD v2 gnomAD v4
9g.134408232C>ACA467648739RXRAc.363C>A (p.Ala121=)
c.282C>A (p.Ala94=)
n.773C>A
c.72C>A (p.Ala24=)
gnomAD v4
9g.134408232C=CA1883176802RXRAc.363C= (p.Ala121=)
c.282C= (p.Ala94=)
n.773C=
c.72C= (p.Ala24=)
9g.134408232C>GCA467648741RXRAc.363C>G (p.Ala121=)
c.282C>G (p.Ala94=)
n.773C>G
c.72C>G (p.Ala24=)
9g.134408232C>TCA5317720RXRAc.363C>T (p.Ala121=)
c.282C>T (p.Ala94=)
n.773C>T
c.72C>T (p.Ala24=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.134408233C>ACA375452393RXRAc.364C>A (p.His122Asn)
c.283C>A (p.His95Asn)
n.774C>A
c.73C>A (p.His25Asn)
9g.134408233C>GCA375452391RXRAc.364C>G (p.His122Asp)
c.283C>G (p.His95Asp)
n.774C>G
c.73C>G (p.His25Asp)
9g.134408233C>TCA375452394RXRAc.364C>T (p.His122Tyr)
c.283C>T (p.His95Tyr)
n.774C>T
c.73C>T (p.His25Tyr)
9g.134408234A>CCA375452396RXRAc.365A>C (p.His122Pro)
c.284A>C (p.His95Pro)
n.775A>C
c.74A>C (p.His25Pro)
gnomAD v4
9g.134408234A>GCA375452402RXRAc.365A>G (p.His122Arg)
c.284A>G (p.His95Arg)
n.775A>G
c.74A>G (p.His25Arg)
gnomAD v4
9g.134408234A>TCA375452399RXRAc.365A>T (p.His122Leu)
c.284A>T (p.His95Leu)
n.775A>T
c.74A>T (p.His25Leu)
9g.134408235C>ACA375452406RXRAc.366C>A (p.His122Gln)
c.285C>A (p.His95Gln)
n.776C>A
c.75C>A (p.His25Gln)
9g.134408235C=CA1883176803RXRAc.366C= (p.His122=)
c.285C= (p.His95=)
n.776C=
c.75C= (p.His25=)
9g.134408235C>GCA375452410RXRAc.366C>G (p.His122Gln)
c.285C>G (p.His95Gln)
n.776C>G
c.75C>G (p.His25Gln)
9g.134408235C>TCA467648759RXRAc.366C>T (p.His122=)
c.285C>T (p.His95=)
n.776C>T
c.75C>T (p.His25=)
dbSNP gnomAD v2 gnomAD v4
9g.134408236C>ACA375452412RXRAc.367C>A (p.Pro123Thr)
c.286C>A (p.Pro96Thr)
n.777C>A
c.76C>A (p.Pro26Thr)
9g.134408236C>GCA375452414RXRAc.367C>G (p.Pro123Ala)
c.286C>G (p.Pro96Ala)
n.777C>G
c.76C>G (p.Pro26Ala)
9g.134408236C>TCA375452415RXRAc.367C>T (p.Pro123Ser)
c.286C>T (p.Pro96Ser)
n.777C>T
c.76C>T (p.Pro26Ser)
gnomAD v4
9g.134408237C>ACA375452418RXRAc.368C>A (p.Pro123His)
c.287C>A (p.Pro96His)
n.778C>A
c.77C>A (p.Pro26His)
9g.134408237C>GCA375452419RXRAc.368C>G (p.Pro123Arg)
c.287C>G (p.Pro96Arg)
n.778C>G
c.77C>G (p.Pro26Arg)
9g.134408237C>TCA375452422RXRAc.368C>T (p.Pro123Leu)
c.287C>T (p.Pro96Leu)
n.778C>T
c.77C>T (p.Pro26Leu)
9g.134408238C>ACA467648771RXRAc.369C>A (p.Pro123=)
c.288C>A (p.Pro96=)
n.779C>A
c.78C>A (p.Pro26=)
gnomAD v4
9g.134408238C=CA1883176804RXRAc.369C= (p.Pro123=)
c.288C= (p.Pro96=)
n.779C=
c.78C= (p.Pro26=)
9g.134408238C>GCA467648773RXRAc.369C>G (p.Pro123=)
c.288C>G (p.Pro96=)
n.779C>G
c.78C>G (p.Pro26=)
gnomAD v4
9g.134408238C>TCA467648775RXRAc.369C>T (p.Pro123=)
c.288C>T (p.Pro96=)
n.779C>T
c.78C>T (p.Pro26=)
dbSNP gnomAD v2 gnomAD v4
9g.134408239T>ACA375452427RXRAc.370T>A (p.Ser124Thr)
c.289T>A (p.Ser97Thr)
n.780T>A
c.79T>A (p.Ser27Thr)
9g.134408239T>CCA375452429RXRAc.370T>C (p.Ser124Pro)
c.289T>C (p.Ser97Pro)
n.780T>C
c.79T>C (p.Ser27Pro)
9g.134408239T>GCA375452430RXRAc.370T>G (p.Ser124Ala)
c.289T>G (p.Ser97Ala)
n.780T>G
c.79T>G (p.Ser27Ala)
9g.134408240C>ACA375452441RXRAc.371C>A (p.Ser124Ter)
c.290C>A (p.Ser97Ter)
n.781C>A
c.80C>A (p.Ser27Ter)
9g.134408240C=CA1883176805RXRAc.371C= (p.Ser124=)
c.290C= (p.Ser97=)
n.781C=
c.80C= (p.Ser27=)
9g.134408240C>GCA375452436RXRAc.371C>G (p.Ser124Ter)
c.290C>G (p.Ser97Ter)
n.781C>G
c.80C>G (p.Ser27Ter)
9g.134408240C>TCA5317721RXRAc.371C>T (p.Ser124Leu)
c.290C>T (p.Ser97Leu)
n.781C>T
c.80C>T (p.Ser27Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.134408241A>CCA467648788RXRAc.372A>C (p.Ser124=)
c.291A>C (p.Ser97=)
n.782A>C
c.81A>C (p.Ser27=)
9g.134408241A>GCA467648790RXRAc.372A>G (p.Ser124=)
c.291A>G (p.Ser97=)
n.782A>G
c.81A>G (p.Ser27=)
9g.134408241A>TCA467648793RXRAc.372A>T (p.Ser124=)
c.291A>T (p.Ser97=)
n.782A>T
c.81A>T (p.Ser27=)
9g.134408242G>ACA375452443RXRAc.373G>A (p.Gly125Arg)
c.292G>A (p.Gly98Arg)
n.783G>A
c.82G>A (p.Gly28Arg)
9g.134408242G>CCA375452445RXRAc.373G>C (p.Gly125Arg)
c.292G>C (p.Gly98Arg)
n.783G>C
c.82G>C (p.Gly28Arg)
9g.134408242G>TCA375452448RXRAc.373G>T (p.Gly125Ter)
c.292G>T (p.Gly98Ter)
n.783G>T
c.82G>T (p.Gly28Ter)
9g.134408243G>ACA375452450RXRAc.374G>A (p.Gly125Glu)
c.293G>A (p.Gly98Glu)
n.784G>A
c.83G>A (p.Gly28Glu)
9g.134408243G>CCA375452452RXRAc.374G>C (p.Gly125Ala)
c.293G>C (p.Gly98Ala)
n.784G>C
c.83G>C (p.Gly28Ala)
gnomAD v4
9g.134408243G>TCA375452455RXRAc.374G>T (p.Gly125Val)
c.293G>T (p.Gly98Val)
n.784G>T
c.83G>T (p.Gly28Val)
9g.134408244A=CA1883176806RXRAc.375A= (p.Gly125=)
c.294A= (p.Gly98=)
n.785A=
c.84A= (p.Gly28=)
9g.134408244A>CCA467648805RXRAc.375A>C (p.Gly125=)
c.294A>C (p.Gly98=)
n.785A>C
c.84A>C (p.Gly28=)
9g.134408244A>GCA467648809RXRAc.375A>G (p.Gly125=)
c.294A>G (p.Gly98=)
n.785A>G
c.84A>G (p.Gly28=)
dbSNP
9g.134408244A>TCA467648806RXRAc.375A>T (p.Gly125=)
c.294A>T (p.Gly98=)
n.785A>T
c.84A>T (p.Gly28=)
9g.134408245A>CCA375452458RXRAc.376A>C (p.Asn126His)
c.295A>C (p.Asn99His)
n.786A>C
c.85A>C (p.Asn29His)
9g.134408245A>GCA375452460RXRAc.376A>G (p.Asn126Asp)
c.295A>G (p.Asn99Asp)
n.786A>G
c.85A>G (p.Asn29Asp)
9g.134408245A>TCA375452464RXRAc.376A>T (p.Asn126Tyr)
c.295A>T (p.Asn99Tyr)
n.786A>T
c.85A>T (p.Asn29Tyr)
9g.134408246A>CCA375452467RXRAc.377A>C (p.Asn126Thr)
c.296A>C (p.Asn99Thr)
n.787A>C
c.86A>C (p.Asn29Thr)
9g.134408246A>GCA375452470RXRAc.377A>G (p.Asn126Ser)
c.296A>G (p.Asn99Ser)
n.787A>G
c.86A>G (p.Asn29Ser)
gnomAD v4
9g.134408246A>TCA375452475RXRAc.377A>T (p.Asn126Ile)
c.296A>T (p.Asn99Ile)
n.787A>T
c.86A>T (p.Asn29Ile)
9g.134408247C>ACA375452481RXRAc.378C>A (p.Asn126Lys)
c.297C>A (p.Asn99Lys)
n.788C>A
c.87C>A (p.Asn29Lys)
9g.134408247C>GCA375452478RXRAc.378C>G (p.Asn126Lys)
c.297C>G (p.Asn99Lys)
n.788C>G
c.87C>G (p.Asn29Lys)
9g.134408247C>TCA467648823RXRAc.378C>T (p.Asn126=)
c.297C>T (p.Asn99=)
n.788C>T
c.87C>T (p.Asn29=)
9g.134408248A>CCA375452484RXRAc.379A>C (p.Met127Leu)
c.298A>C (p.Met100Leu)
n.789A>C
c.88A>C (p.Met30Leu)
9g.134408248A>GCA375452487RXRAc.379A>G (p.Met127Val)
c.298A>G (p.Met100Val)
n.789A>G
c.88A>G (p.Met30Val)
9g.134408248A>TCA375452489RXRAc.379A>T (p.Met127Leu)
c.298A>T (p.Met100Leu)
n.789A>T
c.88A>T (p.Met30Leu)
9g.134408249T>ACA375452493RXRAc.380T>A (p.Met127Lys)
c.299T>A (p.Met100Lys)
n.790T>A
c.89T>A (p.Met30Lys)
9g.134408249T>CCA5317722RXRAc.380T>C (p.Met127Thr)
c.299T>C (p.Met100Thr)
n.790T>C
c.89T>C (p.Met30Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408249T>GCA375452495RXRAc.380T>G (p.Met127Arg)
c.299T>G (p.Met100Arg)
n.790T>G
c.89T>G (p.Met30Arg)
9g.134408249T=CA1883176807RXRAc.380T= (p.Met127=)
c.299T= (p.Met100=)
n.790T=
c.89T= (p.Met30=)
9g.134408250G>ACA375452502RXRAc.381G>A (p.Met127Ile)
c.300G>A (p.Met100Ile)
n.791G>A
c.90G>A (p.Met30Ile)
9g.134408250G>CCA375452500RXRAc.381G>C (p.Met127Ile)
c.300G>C (p.Met100Ile)
n.791G>C
c.90G>C (p.Met30Ile)
9g.134408250G>TCA375452497RXRAc.381G>T (p.Met127Ile)
c.300G>T (p.Met100Ile)
n.791G>T
c.90G>T (p.Met30Ile)
9g.134408251G>ACA375452511RXRAc.382G>A (p.Ala128Thr)
c.301G>A (p.Ala101Thr)
n.792G>A
c.91G>A (p.Ala31Thr)
9g.134408251G>CCA375452513RXRAc.382G>C (p.Ala128Pro)
c.301G>C (p.Ala101Pro)
n.792G>C
c.91G>C (p.Ala31Pro)
9g.134408251G>TCA375452523RXRAc.382G>T (p.Ala128Ser)
c.301G>T (p.Ala101Ser)
n.792G>T
c.91G>T (p.Ala31Ser)
gnomAD v4
9g.134408252C>ACA375452536RXRAc.383C>A (p.Ala128Asp)
c.302C>A (p.Ala101Asp)
n.793C>A
c.92C>A (p.Ala31Asp)
9g.134408252C>GCA375452538RXRAc.383C>G (p.Ala128Gly)
c.302C>G (p.Ala101Gly)
n.793C>G
c.92C>G (p.Ala31Gly)
9g.134408252C>TCA375452539RXRAc.383C>T (p.Ala128Val)
c.302C>T (p.Ala101Val)
n.793C>T
c.92C>T (p.Ala31Val)
gnomAD v4
9g.134408253T>ACA467648853RXRAc.384T>A (p.Ala128=)
c.303T>A (p.Ala101=)
n.794T>A
c.93T>A (p.Ala31=)
9g.134408253T>CCA467648856RXRAc.384T>C (p.Ala128=)
c.303T>C (p.Ala101=)
n.794T>C
c.93T>C (p.Ala31=)
9g.134408253T>GCA467648852RXRAc.384T>G (p.Ala128=)
c.303T>G (p.Ala101=)
n.794T>G
c.93T>G (p.Ala31=)
9g.134408254T>ACA375452544RXRAc.385T>A (p.Ser129Thr)
c.304T>A (p.Ser102Thr)
n.795T>A
c.94T>A (p.Ser32Thr)
9g.134408254T>CCA375452550RXRAc.385T>C (p.Ser129Pro)
c.304T>C (p.Ser102Pro)
n.795T>C
c.94T>C (p.Ser32Pro)
9g.134408254T>GCA375452548RXRAc.385T>G (p.Ser129Ala)
c.304T>G (p.Ser102Ala)
n.795T>G
c.94T>G (p.Ser32Ala)
9g.134408255C>ACA375452561RXRAc.386C>A (p.Ser129Tyr)
c.305C>A (p.Ser102Tyr)
n.796C>A
c.95C>A (p.Ser32Tyr)
9g.134408255C=CA1883176808RXRAc.386C= (p.Ser129=)
c.305C= (p.Ser102=)
n.796C=
c.95C= (p.Ser32=)
9g.134408255C>GCA375452562RXRAc.386C>G (p.Ser129Cys)
c.305C>G (p.Ser102Cys)
n.796C>G
c.95C>G (p.Ser32Cys)
9g.134408255C>TCA375452564RXRAc.386C>T (p.Ser129Phe)
c.305C>T (p.Ser102Phe)
n.796C>T
c.95C>T (p.Ser32Phe)
dbSNP gnomAD v4
9g.134408256C>ACA467648873RXRAc.387C>A (p.Ser129=)
c.306C>A (p.Ser102=)
n.797C>A
c.96C>A (p.Ser32=)
9g.134408256C>GCA467648875RXRAc.387C>G (p.Ser129=)
c.306C>G (p.Ser102=)
n.797C>G
c.96C>G (p.Ser32=)
9g.134408256C>TCA467648877RXRAc.387C>T (p.Ser129=)
c.306C>T (p.Ser102=)
n.797C>T
c.96C>T (p.Ser32=)
9g.134408257T>ACA375452570RXRAc.388T>A (p.Phe130Ile)
c.307T>A (p.Phe103Ile)
n.798T>A
c.97T>A (p.Phe33Ile)
9g.134408257T>CCA375452572RXRAc.388T>C (p.Phe130Leu)
c.307T>C (p.Phe103Leu)
n.798T>C
c.97T>C (p.Phe33Leu)
gnomAD v4
9g.134408257T>GCA375452573RXRAc.388T>G (p.Phe130Val)
c.307T>G (p.Phe103Val)
n.798T>G
c.97T>G (p.Phe33Val)
9g.134408258T>ACA375452574RXRAc.389T>A (p.Phe130Tyr)
c.308T>A (p.Phe103Tyr)
n.799T>A
c.98T>A (p.Phe33Tyr)
9g.134408258T>CCA375452576RXRAc.389T>C (p.Phe130Ser)
c.308T>C (p.Phe103Ser)
n.799T>C
c.98T>C (p.Phe33Ser)
9g.134408258T>GCA375452579RXRAc.389T>G (p.Phe130Cys)
c.308T>G (p.Phe103Cys)
n.799T>G
c.98T>G (p.Phe33Cys)
9g.134408259C>ACA375452582RXRAc.390C>A (p.Phe130Leu)
c.309C>A (p.Phe103Leu)
n.800C>A
c.99C>A (p.Phe33Leu)
9g.134408259C>GCA375452583RXRAc.390C>G (p.Phe130Leu)
c.309C>G (p.Phe103Leu)
n.800C>G
c.99C>G (p.Phe33Leu)
9g.134408259C>TCA467648892RXRAc.390C>T (p.Phe130=)
c.309C>T (p.Phe103=)
n.800C>T
c.99C>T (p.Phe33=)
9g.134408260A>CCA375452588RXRAc.391A>C (p.Thr131Pro)
c.310A>C (p.Thr104Pro)
n.801A>C
c.100A>C (p.Thr34Pro)
9g.134408260A>GCA375452585RXRAc.391A>G (p.Thr131Ala)
c.310A>G (p.Thr104Ala)
n.801A>G
c.100A>G (p.Thr34Ala)
9g.134408260A>TCA375452584RXRAc.391A>T (p.Thr131Ser)
c.310A>T (p.Thr104Ser)
n.801A>T
c.100A>T (p.Thr34Ser)
9g.134408261C>ACA375452590RXRAc.392C>A (p.Thr131Asn)
c.311C>A (p.Thr104Asn)
n.802C>A
c.101C>A (p.Thr34Asn)
9g.134408261C=CA1883176809RXRAc.392C= (p.Thr131=)
c.311C= (p.Thr104=)
n.802C=
c.101C= (p.Thr34=)
9g.134408261C>GCA375452595RXRAc.392C>G (p.Thr131Ser)
c.311C>G (p.Thr104Ser)
n.802C>G
c.101C>G (p.Thr34Ser)
9g.134408261C>TCA5317723RXRAc.392C>T (p.Thr131Ile)
c.311C>T (p.Thr104Ile)
n.802C>T
c.101C>T (p.Thr34Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.134408262C>ACA467648906RXRAc.393C>A (p.Thr131=)
c.312C>A (p.Thr104=)
n.803C>A
c.102C>A (p.Thr34=)
9g.134408262C>GCA467648908RXRAc.393C>G (p.Thr131=)
c.312C>G (p.Thr104=)
n.803C>G
c.102C>G (p.Thr34=)
9g.134408262C>TCA467648911RXRAc.393C>T (p.Thr131=)
c.312C>T (p.Thr104=)
n.803C>T
c.102C>T (p.Thr34=)
9g.134408263A=CA1883176810RXRAc.394A= (p.Lys132=)
c.313A= (p.Lys105=)
n.804A=
c.103A= (p.Lys35=)
9g.134408263A>CCA375452599RXRAc.394A>C (p.Lys132Gln)
c.313A>C (p.Lys105Gln)
n.804A>C
c.103A>C (p.Lys35Gln)
9g.134408263A>GCA375452602RXRAc.394A>G (p.Lys132Glu)
c.313A>G (p.Lys105Glu)
n.804A>G
c.103A>G (p.Lys35Glu)
dbSNP
9g.134408263A>TCA375452603RXRAc.394A>T (p.Lys132Ter)
c.313A>T (p.Lys105Ter)
n.804A>T
c.103A>T (p.Lys35Ter)
9g.134408264A>CCA375452605RXRAc.395A>C (p.Lys132Thr)
c.314A>C (p.Lys105Thr)
n.805A>C
c.104A>C (p.Lys35Thr)
9g.134408264A>GCA375452607RXRAc.395A>G (p.Lys132Arg)
c.314A>G (p.Lys105Arg)
n.805A>G
c.104A>G (p.Lys35Arg)
gnomAD v4
9g.134408264A>TCA375452611RXRAc.395A>T (p.Lys132Met)
c.314A>T (p.Lys105Met)
n.805A>T
c.104A>T (p.Lys35Met)
9g.134408265G>ACA467648924RXRAc.396G>A (p.Lys132=)
c.315G>A (p.Lys105=)
n.806G>A
c.105G>A (p.Lys35=)
gnomAD v4
9g.134408265G>CCA375452613RXRAc.396G>C (p.Lys132Asn)
c.315G>C (p.Lys105Asn)
n.806G>C
c.105G>C (p.Lys35Asn)
9g.134408265G>TCA375452614RXRAc.396G>T (p.Lys132Asn)
c.315G>T (p.Lys105Asn)
n.806G>T
c.105G>T (p.Lys35Asn)
9g.134408266C>ACA375452615RXRAc.397C>A (p.His133Asn)
c.316C>A (p.His106Asn)
n.807C>A
c.106C>A (p.His36Asn)
9g.134408266C=CA1883176811RXRAc.397C= (p.His133=)
c.316C= (p.His106=)
n.807C=
c.106C= (p.His36=)
9g.134408266C>GCA375452616RXRAc.397C>G (p.His133Asp)
c.316C>G (p.His106Asp)
n.807C>G
c.106C>G (p.His36Asp)
9g.134408266C>TCA375452617RXRAc.397C>T (p.His133Tyr)
c.316C>T (p.His106Tyr)
n.807C>T
c.106C>T (p.His36Tyr)
dbSNP gnomAD v2 gnomAD v4
9g.134408267A>CCA375452623RXRAc.398A>C (p.His133Pro)
c.317A>C (p.His106Pro)
n.808A>C
c.107A>C (p.His36Pro)
gnomAD v4
9g.134408267A>GCA375452621RXRAc.398A>G (p.His133Arg)
c.317A>G (p.His106Arg)
n.808A>G
c.107A>G (p.His36Arg)
9g.134408267A>TCA375452618RXRAc.398A>T (p.His133Leu)
c.317A>T (p.His106Leu)
n.808A>T
c.107A>T (p.His36Leu)
9g.134408268C>ACA375452625RXRAc.399C>A (p.His133Gln)
c.318C>A (p.His106Gln)
n.809C>A
c.108C>A (p.His36Gln)
9g.134408268C>GCA375452626RXRAc.399C>G (p.His133Gln)
c.318C>G (p.His106Gln)
n.809C>G
c.108C>G (p.His36Gln)
COSMIC
9g.134408268C>TCA467648939RXRAc.399C>T (p.His133=)
c.318C>T (p.His106=)
n.809C>T
c.108C>T (p.His36=)
9g.134408269A=CA1883176812RXRAc.400A= (p.Ile134=)
c.319A= (p.Ile107=)
n.810A=
c.109A= (p.Ile37=)
9g.134408269A>CCA375452627RXRAc.400A>C (p.Ile134Leu)
c.319A>C (p.Ile107Leu)
n.810A>C
c.109A>C (p.Ile37Leu)
9g.134408269A>GCA375452628RXRAc.400A>G (p.Ile134Val)
c.319A>G (p.Ile107Val)
n.810A>G
c.109A>G (p.Ile37Val)
dbSNP gnomAD v3 gnomAD v4
9g.134408269A>TCA375452629RXRAc.400A>T (p.Ile134Phe)
c.319A>T (p.Ile107Phe)
n.810A>T
c.109A>T (p.Ile37Phe)
9g.134408270T>ACA375452630RXRAc.401T>A (p.Ile134Asn)
c.320T>A (p.Ile107Asn)
n.811T>A
c.110T>A (p.Ile37Asn)
9g.134408270T>CCA375452632RXRAc.401T>C (p.Ile134Thr)
c.320T>C (p.Ile107Thr)
n.811T>C
c.110T>C (p.Ile37Thr)
9g.134408270T>GCA375452634RXRAc.401T>G (p.Ile134Ser)
c.320T>G (p.Ile107Ser)
n.811T>G
c.110T>G (p.Ile37Ser)
9g.134408271C>ACA467648952RXRAc.402C>A (p.Ile134=)
c.321C>A (p.Ile107=)
n.812C>A
c.111C>A (p.Ile37=)
9g.134408271C>GCA375452635RXRAc.402C>G (p.Ile134Met)
c.321C>G (p.Ile107Met)
n.812C>G
c.111C>G (p.Ile37Met)
9g.134408271C>TCA467648951RXRAc.402C>T (p.Ile134=)
c.321C>T (p.Ile107=)
n.812C>T
c.111C>T (p.Ile37=)
9g.134408272T>ACA375452638RXRAc.403T>A (p.Cys135Ser)
c.322T>A (p.Cys108Ser)
n.813T>A
c.112T>A (p.Cys38Ser)
9g.134408272T>CCA375452640RXRAc.403T>C (p.Cys135Arg)
c.322T>C (p.Cys108Arg)
n.813T>C
c.112T>C (p.Cys38Arg)
9g.134408272T>GCA375452642RXRAc.403T>G (p.Cys135Gly)
c.322T>G (p.Cys108Gly)
n.813T>G
c.112T>G (p.Cys38Gly)
9g.134408273G>ACA375452648RXRAc.404G>A (p.Cys135Tyr)
c.323G>A (p.Cys108Tyr)
n.814G>A
c.113G>A (p.Cys38Tyr)
9g.134408273G>CCA375452647RXRAc.404G>C (p.Cys135Ser)
c.323G>C (p.Cys108Ser)
n.814G>C
c.113G>C (p.Cys38Ser)
9g.134408273G>TCA375452645RXRAc.404G>T (p.Cys135Phe)
c.323G>T (p.Cys108Phe)
n.814G>T
c.113G>T (p.Cys38Phe)
9g.134408274C>ACA375452650RXRAc.405C>A (p.Cys135Ter)
c.324C>A (p.Cys108Ter)
n.815C>A
c.114C>A (p.Cys38Ter)
gnomAD v4
9g.134408274C=CA1883176813RXRAc.405C= (p.Cys135=)
c.324C= (p.Cys108=)
n.815C=
c.114C= (p.Cys38=)
9g.134408274C>GCA375452653RXRAc.405C>G (p.Cys135Trp)
c.324C>G (p.Cys108Trp)
n.815C>G
c.114C>G (p.Cys38Trp)
9g.134408274C>TCA5317724RXRAc.405C>T (p.Cys135=)
c.324C>T (p.Cys108=)
n.815C>T
c.114C>T (p.Cys38=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408275G>ACA375452658RXRAc.406G>A (p.Ala136Thr)
c.325G>A (p.Ala109Thr)
n.816G>A
c.115G>A (p.Ala39Thr)
gnomAD v4
9g.134408275G>CCA375452660RXRAc.406G>C (p.Ala136Pro)
c.325G>C (p.Ala109Pro)
n.816G>C
c.115G>C (p.Ala39Pro)
9g.134408275G=CA1883176814RXRAc.406G= (p.Ala136=)
c.325G= (p.Ala109=)
n.816G=
c.115G= (p.Ala39=)
9g.134408275G>TCA375452661RXRAc.406G>T (p.Ala136Ser)
c.325G>T (p.Ala109Ser)
n.816G>T
c.115G>T (p.Ala39Ser)
dbSNP gnomAD v3 gnomAD v4
9g.134408276C>ACA375452662RXRAc.407C>A (p.Ala136Asp)
c.326C>A (p.Ala109Asp)
n.817C>A
c.116C>A (p.Ala39Asp)
gnomAD v4
9g.134408276C>GCA375452663RXRAc.407C>G (p.Ala136Gly)
c.326C>G (p.Ala109Gly)
n.817C>G
c.116C>G (p.Ala39Gly)
9g.134408276C>TCA375452664RXRAc.407C>T (p.Ala136Val)
c.326C>T (p.Ala109Val)
n.817C>T
c.116C>T (p.Ala39Val)
9g.134408277C>ACA467648978RXRAc.408C>A (p.Ala136=)
c.327C>A (p.Ala109=)
n.818C>A
c.117C>A (p.Ala39=)
9g.134408277C>GCA467648980RXRAc.408C>G (p.Ala136=)
c.327C>G (p.Ala109=)
n.818C>G
c.117C>G (p.Ala39=)
9g.134408277C>TCA467648982RXRAc.408C>T (p.Ala136=)
c.327C>T (p.Ala109=)
n.818C>T
c.117C>T (p.Ala39=)
9g.134408278A=CA1883176815RXRAc.409A= (p.Ile137=)
c.328A= (p.Ile110=)
n.819A=
c.118A= (p.Ile40=)
9g.134408278A>CCA375452665RXRAc.409A>C (p.Ile137Leu)
c.328A>C (p.Ile110Leu)
n.819A>C
c.118A>C (p.Ile40Leu)
9g.134408278A>GCA5317725RXRAc.409A>G (p.Ile137Val)
c.328A>G (p.Ile110Val)
n.819A>G
c.118A>G (p.Ile40Val)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.134408278A>TCA375452667RXRAc.409A>T (p.Ile137Phe)
c.328A>T (p.Ile110Phe)
n.819A>T
c.118A>T (p.Ile40Phe)
9g.134408279T>ACA375452675RXRAc.410T>A (p.Ile137Asn)
c.329T>A (p.Ile110Asn)
n.820T>A
c.119T>A (p.Ile40Asn)
9g.134408279T>CCA375452677RXRAc.410T>C (p.Ile137Thr)
c.329T>C (p.Ile110Thr)
n.820T>C
c.119T>C (p.Ile40Thr)
9g.134408279T>GCA375452670RXRAc.410T>G (p.Ile137Ser)
c.329T>G (p.Ile110Ser)
n.820T>G
c.119T>G (p.Ile40Ser)
9g.134408280C>ACA467648995RXRAc.411C>A (p.Ile137=)
c.330C>A (p.Ile110=)
n.821C>A
c.120C>A (p.Ile40=)
gnomAD v4
9g.134408280C>GCA375452681RXRAc.411C>G (p.Ile137Met)
c.330C>G (p.Ile110Met)
n.821C>G
c.120C>G (p.Ile40Met)
9g.134408280C>TCA467648999RXRAc.411C>T (p.Ile137=)
c.330C>T (p.Ile110=)
n.821C>T
c.120C>T (p.Ile40=)
9g.134408281T>ACA375452683RXRAc.412T>A (p.Cys138Ser)
c.331T>A (p.Cys111Ser)
n.822T>A
c.121T>A (p.Cys41Ser)
9g.134408281T>CCA375452685RXRAc.412T>C (p.Cys138Arg)
c.331T>C (p.Cys111Arg)
n.822T>C
c.121T>C (p.Cys41Arg)
9g.134408281T>GCA375452689RXRAc.412T>G (p.Cys138Gly)
c.331T>G (p.Cys111Gly)
n.822T>G
c.121T>G (p.Cys41Gly)
9g.134408282G>ACA375452692RXRAc.413G>A (p.Cys138Tyr)
c.332G>A (p.Cys111Tyr)
n.823G>A
c.122G>A (p.Cys41Tyr)
9g.134408282G>CCA375452691RXRAc.413G>C (p.Cys138Ser)
c.332G>C (p.Cys111Ser)
n.823G>C
c.122G>C (p.Cys41Ser)
9g.134408282G>TCA375452690RXRAc.413G>T (p.Cys138Phe)
c.332G>T (p.Cys111Phe)
n.823G>T
c.122G>T (p.Cys41Phe)
gnomAD v4
9g.134408283C>ACA375452693RXRAc.414C>A (p.Cys138Ter)
c.333C>A (p.Cys111Ter)
n.824C>A
c.123C>A (p.Cys41Ter)
gnomAD v4
9g.134408283C=CA1883176816RXRAc.414C= (p.Cys138=)
c.333C= (p.Cys111=)
n.824C=
c.123C= (p.Cys41=)
9g.134408283C>GCA375452695RXRAc.414C>G (p.Cys138Trp)
c.333C>G (p.Cys111Trp)
n.824C>G
c.123C>G (p.Cys41Trp)
9g.134408283C>TCA5317726RXRAc.414C>T (p.Cys138=)
c.333C>T (p.Cys111=)
n.824C>T
c.123C>T (p.Cys41=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408284G>ACA5317727RXRAc.415G>A (p.Gly139Arg)
c.334G>A (p.Gly112Arg)
n.825G>A
c.124G>A (p.Gly42Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.134408284G>CCA375452697RXRAc.415G>C (p.Gly139Arg)
c.334G>C (p.Gly112Arg)
n.825G>C
c.124G>C (p.Gly42Arg)
9g.134408284G=CA1883176817RXRAc.415G= (p.Gly139=)
c.334G= (p.Gly112=)
n.825G=
c.124G= (p.Gly42=)
9g.134408284G>TCA375452698RXRAc.415G>T (p.Gly139Trp)
c.334G>T (p.Gly112Trp)
n.825G>T
c.124G>T (p.Gly42Trp)
9g.134408287delCA2692437229RXRAc.418del (p.Asp140ThrfsTer28)
c.337del (p.Asp113ThrfsTer28)
n.828del
c.127del (p.Asp43ThrfsTer28)
gnomAD v4
9g.134408285G>ACA375452703RXRAc.416G>A (p.Gly139Glu)
c.335G>A (p.Gly112Glu)
n.826G>A
c.125G>A (p.Gly42Glu)
9g.134408285G>CCA375452699RXRAc.416G>C (p.Gly139Ala)
c.335G>C (p.Gly112Ala)
n.826G>C
c.125G>C (p.Gly42Ala)
9g.134408285G>TCA375452702RXRAc.416G>T (p.Gly139Val)
c.335G>T (p.Gly112Val)
n.826G>T
c.125G>T (p.Gly42Val)
9g.134408286G>ACA467649029RXRAc.417G>A (p.Gly139=)
c.336G>A (p.Gly112=)
n.827G>A
c.126G>A (p.Gly42=)
9g.134408286G>CCA467649025RXRAc.417G>C (p.Gly139=)
c.336G>C (p.Gly112=)
n.827G>C
c.126G>C (p.Gly42=)
9g.134408286G=CA1883176818RXRAc.417G= (p.Gly139=)
c.336G= (p.Gly112=)
n.827G=
c.126G= (p.Gly42=)
9g.134408286G>TCA5317728RXRAc.417G>T (p.Gly139=)
c.336G>T (p.Gly112=)
n.827G>T
c.126G>T (p.Gly42=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408287G>ACA375452708RXRAc.418G>A (p.Asp140Asn)
c.337G>A (p.Asp113Asn)
n.828G>A
c.127G>A (p.Asp43Asn)
9g.134408287G>CCA375452706RXRAc.418G>C (p.Asp140His)
c.337G>C (p.Asp113His)
n.828G>C
c.127G>C (p.Asp43His)
9g.134408287G>TCA375452709RXRAc.418G>T (p.Asp140Tyr)
c.337G>T (p.Asp113Tyr)
n.828G>T
c.127G>T (p.Asp43Tyr)
gnomAD v4
9g.134408288A>CCA375452710RXRAc.419A>C (p.Asp140Ala)
c.338A>C (p.Asp113Ala)
n.829A>C
c.128A>C (p.Asp43Ala)
9g.134408288A>GCA375452712RXRAc.419A>G (p.Asp140Gly)
c.338A>G (p.Asp113Gly)
n.829A>G
c.128A>G (p.Asp43Gly)
9g.134408288A>TCA375452713RXRAc.419A>T (p.Asp140Val)
c.338A>T (p.Asp113Val)
n.829A>T
c.128A>T (p.Asp43Val)
9g.134408289C>ACA375452715RXRAc.420C>A (p.Asp140Glu)
c.339C>A (p.Asp113Glu)
n.830C>A
c.129C>A (p.Asp43Glu)
9g.134408289C>GCA375452716RXRAc.420C>G (p.Asp140Glu)
c.339C>G (p.Asp113Glu)
n.830C>G
c.129C>G (p.Asp43Glu)
9g.134408289C>TCA467649042RXRAc.420C>T (p.Asp140=)
c.339C>T (p.Asp113=)
n.830C>T
c.129C>T (p.Asp43=)
9g.134408290C>ACA375452721RXRAc.421C>A (p.Arg141Ser)
c.340C>A (p.Arg114Ser)
n.831C>A
c.130C>A (p.Arg44Ser)
gnomAD v4
9g.134408290C=CA1883176819RXRAc.421C= (p.Arg141=)
c.340C= (p.Arg114=)
n.831C=
c.130C= (p.Arg44=)
9g.134408290C>GCA375452720RXRAc.421C>G (p.Arg141Gly)
c.340C>G (p.Arg114Gly)
n.831C>G
c.130C>G (p.Arg44Gly)
9g.134408290C>TCA375452718RXRAc.421C>T (p.Arg141Cys)
c.340C>T (p.Arg114Cys)
n.831C>T
c.130C>T (p.Arg44Cys)
dbSNP gnomAD v3 gnomAD v4
9g.134408291G>ACA5317729RXRAc.422G>A (p.Arg141His)
c.341G>A (p.Arg114His)
n.832G>A
c.131G>A (p.Arg44His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408291G>CCA375452723RXRAc.422G>C (p.Arg141Pro)
c.341G>C (p.Arg114Pro)
n.832G>C
c.131G>C (p.Arg44Pro)
9g.134408291G=CA1883176820RXRAc.422G= (p.Arg141=)
c.341G= (p.Arg114=)
n.832G=
c.131G= (p.Arg44=)
9g.134408291G>TCA375452724RXRAc.422G>T (p.Arg141Leu)
c.341G>T (p.Arg114Leu)
n.832G>T
c.131G>T (p.Arg44Leu)
9g.134408292C>ACA467649055RXRAc.423C>A (p.Arg141=)
c.342C>A (p.Arg114=)
n.833C>A
c.132C>A (p.Arg44=)
9g.134408292C=CA1883176821RXRAc.423C= (p.Arg141=)
c.342C= (p.Arg114=)
n.833C=
c.132C= (p.Arg44=)
9g.134408292C>GCA467649057RXRAc.423C>G (p.Arg141=)
c.342C>G (p.Arg114=)
n.833C>G
c.132C>G (p.Arg44=)
9g.134408292C>TCA467649059RXRAc.423C>T (p.Arg141=)
c.342C>T (p.Arg114=)
n.833C>T
c.132C>T (p.Arg44=)
dbSNP gnomAD v2 gnomAD v4
9g.134408293T>ACA375452725RXRAc.424T>A (p.Ser142Thr)
c.343T>A (p.Ser115Thr)
n.834T>A
c.133T>A (p.Ser45Thr)
9g.134408293T>CCA375452726RXRAc.424T>C (p.Ser142Pro)
c.343T>C (p.Ser115Pro)
n.834T>C
c.133T>C (p.Ser45Pro)
9g.134408293T>GCA375452727RXRAc.424T>G (p.Ser142Ala)
c.343T>G (p.Ser115Ala)
n.834T>G
c.133T>G (p.Ser45Ala)
9g.134408294C>ACA375452731RXRAc.425C>A (p.Ser142Tyr)
c.344C>A (p.Ser115Tyr)
n.835C>A
c.134C>A (p.Ser45Tyr)
9g.134408294C>GCA375452728RXRAc.425C>G (p.Ser142Cys)
c.344C>G (p.Ser115Cys)
n.835C>G
c.134C>G (p.Ser45Cys)
9g.134408294C>TCA375452729RXRAc.425C>T (p.Ser142Phe)
c.344C>T (p.Ser115Phe)
n.835C>T
c.134C>T (p.Ser45Phe)
9g.134408295C>ACA467649071RXRAc.426C>A (p.Ser142=)
c.345C>A (p.Ser115=)
n.836C>A
c.135C>A (p.Ser45=)
9g.134408295C=CA1883176822RXRAc.426C= (p.Ser142=)
c.345C= (p.Ser115=)
n.836C=
c.135C= (p.Ser45=)
9g.134408295C>GCA467649073RXRAc.426C>G (p.Ser142=)
c.345C>G (p.Ser115=)
n.836C>G
c.135C>G (p.Ser45=)
9g.134408295C>TCA467649075RXRAc.426C>T (p.Ser142=)
c.345C>T (p.Ser115=)
n.836C>T
c.135C>T (p.Ser45=)
dbSNP
9g.134408296T>ACA375452732RXRAc.427T>A (p.Ser143Thr)
c.346T>A (p.Ser116Thr)
n.837T>A
c.136T>A (p.Ser46Thr)
9g.134408296T>CCA375452734RXRAc.427T>C (p.Ser143Pro)
c.346T>C (p.Ser116Pro)
n.837T>C
c.136T>C (p.Ser46Pro)
9g.134408296T>GCA375452736RXRAc.427T>G (p.Ser143Ala)
c.346T>G (p.Ser116Ala)
n.837T>G
c.136T>G (p.Ser46Ala)
9g.134408297C>ACA375452738RXRAc.428C>A (p.Ser143Ter)
c.347C>A (p.Ser116Ter)
n.838C>A
c.137C>A (p.Ser46Ter)
9g.134408297C>GCA375452739RXRAc.428C>G (p.Ser143Ter)
c.347C>G (p.Ser116Ter)
n.838C>G
c.137C>G (p.Ser46Ter)
9g.134408297C>TCA375452741RXRAc.428C>T (p.Ser143Leu)
c.347C>T (p.Ser116Leu)
n.838C>T
c.137C>T (p.Ser46Leu)
gnomAD v4
9g.134408298A=CA1883176823RXRAc.429A= (p.Ser143=)
c.348A= (p.Ser116=)
n.839A=
c.138A= (p.Ser46=)
9g.134408298A>CCA467649087RXRAc.429A>C (p.Ser143=)
c.348A>C (p.Ser116=)
n.839A>C
c.138A>C (p.Ser46=)
9g.134408298A>GCA467649090RXRAc.429A>G (p.Ser143=)
c.348A>G (p.Ser116=)
n.839A>G
c.138A>G (p.Ser46=)
dbSNP gnomAD v2 gnomAD v4
9g.134408298A>TCA467649092RXRAc.429A>T (p.Ser143=)
c.348A>T (p.Ser116=)
n.839A>T
c.138A>T (p.Ser46=)
gnomAD v4
9g.134408299G>ACA375452745RXRAc.430G>A (p.Gly144Ser)
c.349G>A (p.Gly117Ser)
n.840G>A
c.139G>A (p.Gly47Ser)
9g.134408299G>CCA375452749RXRAc.430G>C (p.Gly144Arg)
c.349G>C (p.Gly117Arg)
n.840G>C
c.139G>C (p.Gly47Arg)
9g.134408299G>TCA375452751RXRAc.430G>T (p.Gly144Cys)
c.349G>T (p.Gly117Cys)
n.840G>T
c.139G>T (p.Gly47Cys)
9g.134408300G>ACA375452752RXRAc.430+1G>A (n.430+1G>A)
c.349+1G>A (n.349+1G>A)
n.840+1G>A
c.139+1G>A (n.139+1G>A)
9g.134408300G>CCA375452754RXRAc.430+1G>C (n.430+1G>C)
c.349+1G>C (n.349+1G>C)
n.840+1G>C
c.139+1G>C (n.139+1G>C)
9g.134408300G>TCA375452756RXRAc.430+1G>T (n.430+1G>T)
c.349+1G>T (n.349+1G>T)
n.840+1G>T
c.139+1G>T (n.139+1G>T)
gnomAD v4
9g.134408302_134408312delCA2720596686RXRAc.430+3_430+13del (n.430+3_430+13del)
c.349+3_349+13del (n.349+3_349+13del)
n.840+3_840+13del
c.139+3_139+13del (n.139+3_139+13del)
dbSNP
9g.134408301T>ACA375452758RXRAc.430+2T>A (n.430+2T>A)
c.349+2T>A (n.349+2T>A)
n.840+2T>A
c.139+2T>A (n.139+2T>A)
9g.134408301T>CCA375452761RXRAc.430+2T>C (n.430+2T>C)
c.349+2T>C (n.349+2T>C)
n.840+2T>C
c.139+2T>C (n.139+2T>C)
9g.134408301T>GCA375452760RXRAc.430+2T>G (n.430+2T>G)
c.349+2T>G (n.349+2T>G)
n.840+2T>G
c.139+2T>G (n.139+2T>G)
9g.134408302A>GCA2692437232RXRAc.430+3A>G (n.430+3A>G)
c.349+3A>G (n.349+3A>G)
n.840+3A>G
c.139+3A>G (n.139+3A>G)
gnomAD v4
9g.134408303C>ACA2692437233RXRAc.430+4C>A (n.430+4C>A)
c.349+4C>A (n.349+4C>A)
n.840+4C>A
c.139+4C>A (n.139+4C>A)
gnomAD v4
9g.134408304C>ACA2692437234RXRAc.430+5C>A (n.430+5C>A)
c.349+5C>A (n.349+5C>A)
n.840+5C>A
c.139+5C>A (n.139+5C>A)
gnomAD v4
9g.134408304C=CA1883176824RXRAc.430+5C= (n.430+5C=)
c.349+5C= (n.349+5C=)
n.840+5C=
c.139+5C= (n.139+5C=)
9g.134408304C>TCA5317730RXRAc.430+5C>T (n.430+5C>T)
c.349+5C>T (n.349+5C>T)
n.840+5C>T
c.139+5C>T (n.139+5C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408305G>ACA5317731RXRAc.430+6G>A (n.430+6G>A)
c.349+6G>A (n.349+6G>A)
n.840+6G>A
c.139+6G>A (n.139+6G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.134408305G=CA1883176825RXRAc.430+6G= (n.430+6G=)
c.349+6G= (n.349+6G=)
n.840+6G=
c.139+6G= (n.139+6G=)
9g.134408306C>ACA5317733RXRAc.430+7C>A (n.430+7C>A)
c.349+7C>A (n.349+7C>A)
n.840+7C>A
c.139+7C>A (n.139+7C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.134408306C=CA1883176826RXRAc.430+7C= (n.430+7C=)
c.349+7C= (n.349+7C=)
n.840+7C=
c.139+7C= (n.139+7C=)
9g.134408306C>TCA5317732RXRAc.430+7C>T (n.430+7C>T)
c.349+7C>T (n.349+7C>T)
n.840+7C>T
c.139+7C>T (n.139+7C>T)
dbSNP ExAC gnomAD v2
9g.134408307T>GCA2692437235RXRAc.430+8T>G (n.430+8T>G)
c.349+8T>G (n.349+8T>G)
n.840+8T>G
c.139+8T>G (n.139+8T>G)
gnomAD v4
9g.134408309C>ACA591101356RXRAc.430+10C>A (n.430+10C>A)
c.349+10C>A (n.349+10C>A)
n.840+10C>A
c.139+10C>A (n.139+10C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.134408309C=CA1883176827RXRAc.430+10C= (n.430+10C=)
c.349+10C= (n.349+10C=)
n.840+10C=
c.139+10C= (n.139+10C=)

Number of alleles fetched