Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.63629426T>ACA340645424PGM1c.248T>A (p.Ile83Asn)
c.302T>A (p.Ile101Asn)
c.-344T>A (n.-344T>A)
1g.63629426T>CCA340645426PGM1c.248T>C (p.Ile83Thr)
c.302T>C (p.Ile101Thr)
c.-344T>C (n.-344T>C)
1g.63629426T>GCA340645429PGM1c.248T>G (p.Ile83Ser)
c.302T>G (p.Ile101Ser)
c.-344T>G (n.-344T>G)
1g.63629427C>ACA889492PGM1c.249C>A (p.Ile83=)
c.303C>A (p.Ile101=)
c.-343C>A (n.-343C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63629427C=CA1141720784PGM1c.249C= (p.Ile83=)
c.303C= (p.Ile101=)
c.-343C= (n.-343C=)
1g.63629427C>GCA340645433PGM1c.249C>G (p.Ile83Met)
c.303C>G (p.Ile101Met)
c.-343C>G (n.-343C>G)
1g.63629427C>TCA889493PGM1c.249C>T (p.Ile83=)
c.303C>T (p.Ile101=)
c.-343C>T (n.-343C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.63629428G>ACA889494PGM1c.250G>A (p.Gly84Ser)
c.304G>A (p.Gly102Ser)
c.-342G>A (n.-342G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.63629428G>CCA340645438PGM1c.250G>C (p.Gly84Arg)
c.304G>C (p.Gly102Arg)
c.-342G>C (n.-342G>C)
gnomAD v4
1g.63629428G=CA1171571074PGM1c.250G= (p.Gly84=)
c.304G= (p.Gly102=)
c.-342G= (n.-342G=)
1g.63629428G>TCA340645450PGM1c.250G>T (p.Gly84Cys)
c.304G>T (p.Gly102Cys)
c.-342G>T (n.-342G>T)
1g.63629429G>ACA340645453PGM1c.251G>A (p.Gly84Asp)
c.305G>A (p.Gly102Asp)
c.-341G>A (n.-341G>A)
1g.63629429G>CCA340645454PGM1c.251G>C (p.Gly84Ala)
c.305G>C (p.Gly102Ala)
c.-341G>C (n.-341G>C)
1g.63629429G>TCA340645457PGM1c.251G>T (p.Gly84Val)
c.305G>T (p.Gly102Val)
c.-341G>T (n.-341G>T)
1g.63629430T>ACA418207485PGM1c.252T>A (p.Gly84=)
c.306T>A (p.Gly102=)
c.-340T>A (n.-340T>A)
1g.63629430T>CCA418207486PGM1c.252T>C (p.Gly84=)
c.306T>C (p.Gly102=)
c.-340T>C (n.-340T>C)
gnomAD v4
1g.63629430T>GCA418207487PGM1c.252T>G (p.Gly84=)
c.306T>G (p.Gly102=)
c.-340T>G (n.-340T>G)
1g.63629431C>ACA340645461PGM1c.253C>A (p.Arg85Ser)
c.307C>A (p.Arg103Ser)
c.-339C>A (n.-339C>A)
1g.63629431C=CA1142355164PGM1c.253C= (p.Arg85=)
c.307C= (p.Arg103=)
c.-339C= (n.-339C=)
1g.63629431C>GCA340645459PGM1c.253C>G (p.Arg85Gly)
c.307C>G (p.Arg103Gly)
c.-339C>G (n.-339C>G)
dbSNP gnomAD v4
1g.63629431C>TCA889495PGM1c.253C>T (p.Arg85Cys)
c.307C>T (p.Arg103Cys)
c.-339C>T (n.-339C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63629432G>ACA889496PGM1c.254G>A (p.Arg85His)
c.308G>A (p.Arg103His)
c.-338G>A (n.-338G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63629432G>CCA340645464PGM1c.254G>C (p.Arg85Pro)
c.308G>C (p.Arg103Pro)
c.-338G>C (n.-338G>C)
dbSNP gnomAD v2 gnomAD v4
1g.63629432G=CA1143403593PGM1c.254G= (p.Arg85=)
c.308G= (p.Arg103=)
c.-338G= (n.-338G=)
1g.63629432G>TCA340645467PGM1c.254G>T (p.Arg85Leu)
c.308G>T (p.Arg103Leu)
c.-338G>T (n.-338G>T)
1g.63629433C>ACA418207503PGM1c.255C>A (p.Arg85=)
c.309C>A (p.Arg103=)
c.-337C>A (n.-337C>A)
1g.63629433C=CA1171571075PGM1c.255C= (p.Arg85=)
c.309C= (p.Arg103=)
c.-337C= (n.-337C=)
1g.63629433C>GCA418207505PGM1c.255C>G (p.Arg85=)
c.309C>G (p.Arg103=)
c.-337C>G (n.-337C>G)
1g.63629433C>TCA418207507PGM1c.255C>T (p.Arg85=)
c.309C>T (p.Arg103=)
c.-337C>T (n.-337C>T)
dbSNP gnomAD v3 gnomAD v4
1g.63629434T>ACA340645471PGM1c.256T>A (p.Leu86Met)
c.310T>A (p.Leu104Met)
c.-336T>A (n.-336T>A)
1g.63629434T>CCA418207508PGM1c.256T>C (p.Leu86=)
c.310T>C (p.Leu104=)
c.-336T>C (n.-336T>C)
1g.63629434T>GCA340645472PGM1c.256T>G (p.Leu86Val)
c.310T>G (p.Leu104Val)
c.-336T>G (n.-336T>G)
dbSNP
1g.63629434T=CA1171571076PGM1c.256T= (p.Leu86=)
c.310T= (p.Leu104=)
c.-336T= (n.-336T=)
1g.63629435T>ACA340645473PGM1c.257T>A (p.Leu86Ter)
c.311T>A (p.Leu104Ter)
c.-335T>A (n.-335T>A)
1g.63629435T>CCA340645476PGM1c.257T>C (p.Leu86Ser)
c.311T>C (p.Leu104Ser)
c.-335T>C (n.-335T>C)
1g.63629435T>GCA340645477PGM1c.257T>G (p.Leu86Trp)
c.311T>G (p.Leu104Trp)
c.-335T>G (n.-335T>G)
1g.63629436G>ACA418207516PGM1c.258G>A (p.Leu86=)
c.312G>A (p.Leu104=)
c.-334G>A (n.-334G>A)
1g.63629436G>CCA340645479PGM1c.258G>C (p.Leu86Phe)
c.312G>C (p.Leu104Phe)
c.-334G>C (n.-334G>C)
1g.63629436G>TCA340645481PGM1c.258G>T (p.Leu86Phe)
c.312G>T (p.Leu104Phe)
c.-334G>T (n.-334G>T)
1g.63629437G>ACA340645491PGM1c.259G>A (p.Val87Ile)
c.313G>A (p.Val105Ile)
c.-333G>A (n.-333G>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.63629437G>CCA340645485PGM1c.259G>C (p.Val87Leu)
c.313G>C (p.Val105Leu)
c.-333G>C (n.-333G>C)
1g.63629437G=CA1171571077PGM1c.259G= (p.Val87=)
c.313G= (p.Val105=)
c.-333G= (n.-333G=)
1g.63629437G>TCA340645482PGM1c.259G>T (p.Val87Phe)
c.313G>T (p.Val105Phe)
c.-333G>T (n.-333G>T)
1g.63629438T>ACA340645494PGM1c.260T>A (p.Val87Asp)
c.314T>A (p.Val105Asp)
c.-332T>A (n.-332T>A)
1g.63629438T>CCA340645497PGM1c.260T>C (p.Val87Ala)
c.314T>C (p.Val105Ala)
c.-332T>C (n.-332T>C)
1g.63629438T>GCA340645499PGM1c.260T>G (p.Val87Gly)
c.314T>G (p.Val105Gly)
c.-332T>G (n.-332T>G)
1g.63629439T>ACA418207535PGM1c.261T>A (p.Val87=)
c.315T>A (p.Val105=)
c.-331T>A (n.-331T>A)
1g.63629439T>CCA889497PGM1c.261T>C (p.Val87=)
c.315T>C (p.Val105=)
c.-331T>C (n.-331T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63629439T>GCA418207532PGM1c.261T>G (p.Val87=)
c.315T>G (p.Val105=)
c.-331T>G (n.-331T>G)
1g.63629439T=CA1142184387PGM1c.261T= (p.Val87=)
c.315T= (p.Val105=)
c.-331T= (n.-331T=)

Number of alleles fetched