Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.89333327G>ACA316798POLG,POLGARFc.428C>T (p.Ala143Val)
c.483C>T (p.Gly161=)
c.29C>T (p.Ala10Val)
c.85C>T
n.626C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333327G>CCA393771827POLG,POLGARFc.428C>G (p.Ala143Gly)
c.483C>G (p.Gly161=)
c.29C>G (p.Ala10Gly)
c.85C>G
n.626C>G
15g.89333327G=CA2194572118POLG,POLGARFc.428C= (p.Ala143=)
c.483C= (p.Gly161=)
c.29C= (p.Ala10=)
c.85C=
n.626C=
15g.89333327G>TCA393771834POLG,POLGARFc.428C>A (p.Ala143Asp)
c.483C>A (p.Gly161=)
c.29C>A (p.Ala10Asp)
c.85C>A
n.626C>A
 gnomAD v4
15g.89333328C>ACA393771838POLG,POLGARFc.427G>T (p.Ala143Ser)
c.482G>T (p.Gly161Val)
c.28G>T (p.Ala10Ser)
c.84G>T
n.625G>T
 gnomAD v4
15g.89333328C=CA2194572123POLG,POLGARFc.427G= (p.Ala143=)
c.482G= (p.Gly161=)
c.28G= (p.Ala10=)
c.84G=
n.625G=
15g.89333328C>GCA393771841POLG,POLGARFc.427G>C (p.Ala143Pro)
c.482G>C (p.Gly161Ala)
c.28G>C (p.Ala10Pro)
c.84G>C
n.625G>C
15g.89333328C>TCA393771844POLG,POLGARFc.427G>A (p.Ala143Thr)
c.482G>A (p.Gly161Asp)
c.28G>A (p.Ala10Thr)
c.84G>A
n.625G>A
 dbSNP gnomAD v2 gnomAD v4
15g.89333329C>ACA492289994POLG,POLGARFc.426G>T (p.Leu142=)
c.481G>T (p.Gly161Cys)
c.27G>T (p.Leu9=)
c.83G>T
n.624G>T
 gnomAD v4
15g.89333329C>GCA492289996POLG,POLGARFc.426G>C (p.Leu142=)
c.481G>C (p.Gly161Arg)
c.27G>C (p.Leu9=)
c.83G>C
n.624G>C
 gnomAD v4
15g.89333329C>TCA492289998POLG,POLGARFc.426G>A (p.Leu142=)
c.481G>A (p.Gly161Ser)
c.27G>A (p.Leu9=)
c.83G>A
n.624G>A
 gnomAD v4
15g.89333330A=CA2194572130POLG,POLGARFc.425T= (p.Leu142=)
c.480T= (p.Pro160=)
c.26T= (p.Leu9=)
c.82T=
n.623T=
15g.89333330A>CCA393771847POLG,POLGARFc.425T>G (p.Leu142Arg)
c.480T>G (p.Pro160=)
c.26T>G (p.Leu9Arg)
c.82T>G
n.623T>G
15g.89333330A>GCA16621678POLG,POLGARFc.425T>C (p.Leu142Pro)
c.480T>C (p.Pro160=)
c.26T>C (p.Leu9Pro)
c.82T>C
n.623T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333330A>TCA393771851POLG,POLGARFc.425T>A (p.Leu142Gln)
c.480T>A (p.Pro160=)
c.26T>A (p.Leu9Gln)
c.82T>A
n.623T>A
 gnomAD v4
15g.89333331G>ACA492290000POLG,POLGARFc.424C>T (p.Leu142=)
c.479C>T (p.Pro160Leu)
c.25C>T (p.Leu9=)
c.81C>T
n.622C>T
 gnomAD v4
15g.89333331G>CCA393771855POLG,POLGARFc.424C>G (p.Leu142Val)
c.479C>G (p.Pro160Arg)
c.25C>G (p.Leu9Val)
c.81C>G
n.622C>G
15g.89333331G>TCA393771853POLG,POLGARFc.424C>A (p.Leu142Met)
c.479C>A (p.Pro160His)
c.25C>A (p.Leu9Met)
c.81C>A
n.622C>A
 gnomAD v4
15g.89333332G>ACA7725114POLG,POLGARFc.423C>T (p.Leu141=)
c.478C>T (p.Pro160Ser)
c.24C>T (p.Leu8=)
c.80C>T
n.621C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333332G>CCA492290002POLG,POLGARFc.423C>G (p.Leu141=)
c.478C>G (p.Pro160Ala)
c.24C>G (p.Leu8=)
c.80C>G
n.621C>G
15g.89333332G=CA2194572145POLG,POLGARFc.423C= (p.Leu141=)
c.478C= (p.Pro160=)
c.24C= (p.Leu8=)
c.80C=
n.621C=
15g.89333332G>TCA492290004POLG,POLGARFc.423C>A (p.Leu141=)
c.478C>A (p.Pro160Thr)
c.24C>A (p.Leu8=)
c.80C>A
n.621C>A
 gnomAD v4
15g.89333333A=CA2194572151POLG,POLGARFc.422T= (p.Leu141=)
c.477T= (p.Pro159=)
c.23T= (p.Leu8=)
c.79T=
n.620T=
15g.89333333A>CCA393771861POLG,POLGARFc.422T>G (p.Leu141Arg)
c.477T>G (p.Pro159=)
c.23T>G (p.Leu8Arg)
c.79T>G
n.620T>G
15g.89333333A>GCA393771862POLG,POLGARFc.422T>C (p.Leu141Pro)
c.477T>C (p.Pro159=)
c.23T>C (p.Leu8Pro)
c.79T>C
n.620T>C
 dbSNP gnomAD v3 gnomAD v4
15g.89333333A>TCA393771865POLG,POLGARFc.422T>A (p.Leu141His)
c.477T>A (p.Pro159=)
c.23T>A (p.Leu8His)
c.79T>A
n.620T>A
 gnomAD v4
15g.89333334G>ACA393771875POLG,POLGARFc.421C>T (p.Leu141Phe)
c.476C>T (p.Pro159Leu)
c.22C>T (p.Leu8Phe)
c.78C>T
n.619C>T
 ClinVar gnomAD v4
15g.89333334G>CCA393771878POLG,POLGARFc.421C>G (p.Leu141Val)
c.476C>G (p.Pro159Arg)
c.22C>G (p.Leu8Val)
c.78C>G
n.619C>G
15g.89333334G>TCA393771881POLG,POLGARFc.421C>A (p.Leu141Ile)
c.476C>A (p.Pro159His)
c.22C>A (p.Leu8Ile)
c.78C>A
n.619C>A
 gnomAD v4
15g.89333335G>ACA492290006POLG,POLGARFc.420C>T (p.Arg140=)
c.475C>T (p.Pro159Ser)
c.21C>T (p.Arg7=)
c.77C>T
n.618C>T
 dbSNP gnomAD v2 gnomAD v4
15g.89333335G>CCA492290007POLG,POLGARFc.420C>G (p.Arg140=)
c.475C>G (p.Pro159Ala)
c.21C>G (p.Arg7=)
c.77C>G
n.618C>G
15g.89333335G=CA2194572156POLG,POLGARFc.420C= (p.Arg140=)
c.475C= (p.Pro159=)
c.21C= (p.Arg7=)
c.77C=
n.618C=
15g.89333335G>TCA492290008POLG,POLGARFc.420C>A (p.Arg140=)
c.475C>A (p.Pro159Thr)
c.21C>A (p.Arg7=)
c.77C>A
n.618C>A
 gnomAD v4
15g.89333336C>ACA7725116POLG,POLGARFc.419G>T (p.Arg140Leu)
c.474G>T (p.Pro158=)
c.20G>T (p.Arg7Leu)
c.76G>T
n.617G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333336C=CA2194572165POLG,POLGARFc.419G= (p.Arg140=)
c.474G= (p.Pro158=)
c.20G= (p.Arg7=)
c.76G=
n.617G=
15g.89333336C>GCA393771882POLG,POLGARFc.419G>C (p.Arg140Pro)
c.474G>C (p.Pro158=)
c.20G>C (p.Arg7Pro)
c.76G>C
n.617G>C
 gnomAD v4
15g.89333336C>TCA7725115POLG,POLGARFc.419G>A (p.Arg140His)
c.474G>A (p.Pro158=)
c.20G>A (p.Arg7His)
c.76G>A
n.617G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333337G>ACA316881POLG,POLGARFc.418C>T (p.Arg140Cys)
c.473C>T (p.Pro158Leu)
c.19C>T (p.Arg7Cys)
c.75C>T
n.616C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333337G>CCA393771886POLG,POLGARFc.418C>G (p.Arg140Gly)
c.473C>G (p.Pro158Arg)
c.19C>G (p.Arg7Gly)
c.75C>G
n.616C>G
15g.89333337G=CA2194572177POLG,POLGARFc.418C= (p.Arg140=)
c.473C= (p.Pro158=)
c.19C= (p.Arg7=)
c.75C=
n.616C=
15g.89333337G>TCA274565964POLG,POLGARFc.418C>A (p.Arg140Ser)
c.473C>A (p.Pro158Gln)
c.19C>A (p.Arg7Ser)
c.75C>A
n.616C>A
 dbSNP gnomAD v4
15g.89333338G>ACA492290009POLG,POLGARFc.417C>T (p.Phe139=)
c.472C>T (p.Pro158Ser)
c.18C>T (p.Phe6=)
c.74C>T
n.615C>T
 gnomAD v4
15g.89333338G>CCA393771892POLG,POLGARFc.417C>G (p.Phe139Leu)
c.472C>G (p.Pro158Ala)
c.18C>G (p.Phe6Leu)
c.74C>G
n.615C>G
15g.89333338G>TCA393771897POLG,POLGARFc.417C>A (p.Phe139Leu)
c.472C>A (p.Pro158Thr)
c.18C>A (p.Phe6Leu)
c.74C>A
n.615C>A
 gnomAD v4
15g.89333339A>CCA393771901POLG,POLGARFc.416T>G (p.Phe139Cys)
c.471T>G (p.Leu157=)
c.17T>G (p.Phe6Cys)
c.73T>G
n.614T>G
 ClinVar dbSNP
15g.89333339A>GCA393771905POLG,POLGARFc.416T>C (p.Phe139Ser)
c.471T>C (p.Leu157=)
c.17T>C (p.Phe6Ser)
c.73T>C
n.614T>C
15g.89333339A>TCA393771904POLG,POLGARFc.416T>A (p.Phe139Tyr)
c.471T>A (p.Leu157=)
c.17T>A (p.Phe6Tyr)
c.73T>A
n.614T>A
15g.89333340A>CCA393771906POLG,POLGARFc.415T>G (p.Phe139Val)
c.470T>G (p.Leu157Arg)
c.16T>G (p.Phe6Val)
c.72T>G
n.613T>G
15g.89333340A>GCA393771909POLG,POLGARFc.415T>C (p.Phe139Leu)
c.470T>C (p.Leu157Pro)
c.16T>C (p.Phe6Leu)
c.72T>C
n.613T>C
15g.89333340A>TCA393771907POLG,POLGARFc.415T>A (p.Phe139Ile)
c.470T>A (p.Leu157His)
c.16T>A (p.Phe6Ile)
c.72T>A
n.613T>A

Number of alleles fetched