Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.63629398_63629399delinsGACA1171571060PGM1c.247-27_247-26delinsGA (n.247-27_247-26delinsGA)
c.301-27_301-26delinsGA (n.301-27_301-26delinsGA)
c.-345-27_-345-26delinsGA (n.-345-27_-345-26delinsGA)
1g.63629399delCA1171571061PGM1c.247-26del (n.247-26del)
c.301-26del (n.301-26del)
c.-345-26del (n.-345-26del)
 dbSNP gnomAD v4
1g.63629399A=CA1171571062PGM1c.247-26A= (n.247-26A=)
c.301-26A= (n.301-26A=)
c.-345-26A= (n.-345-26A=)
1g.63629399A>CCA2646028477PGM1c.247-26A>C (n.247-26A>C)
c.301-26A>C (n.301-26A>C)
c.-345-26A>C (n.-345-26A>C)
 gnomAD v4
1g.63629399A>TCA523752296PGM1c.247-26A>T (n.247-26A>T)
c.301-26A>T (n.301-26A>T)
c.-345-26A>T (n.-345-26A>T)
 dbSNP gnomAD v2 gnomAD v4
1g.63629400G>ACA1002505634PGM1c.247-25G>A (n.247-25G>A)
c.301-25G>A (n.301-25G>A)
c.-345-25G>A (n.-345-25G>A)
 dbSNP gnomAD v3 gnomAD v4
1g.63629400G>CCA1171571064PGM1c.247-25G>C (n.247-25G>C)
c.301-25G>C (n.301-25G>C)
c.-345-25G>C (n.-345-25G>C)
 dbSNP
1g.63629400G=CA1171571063PGM1c.247-25G= (n.247-25G=)
c.301-25G= (n.301-25G=)
c.-345-25G= (n.-345-25G=)
1g.63629400G>TCA2646028478PGM1c.247-25G>T (n.247-25G>T)
c.301-25G>T (n.301-25G>T)
c.-345-25G>T (n.-345-25G>T)
 gnomAD v4
1g.63629401T>CCA2743892757PGM1c.247-24T>C (n.247-24T>C)
c.301-24T>C (n.301-24T>C)
c.-345-24T>C (n.-345-24T>C)
1g.63629401T>GCA889489PGM1c.247-24T>G (n.247-24T>G)
c.301-24T>G (n.301-24T>G)
c.-345-24T>G (n.-345-24T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.63629401T=CA1171571065PGM1c.247-24T= (n.247-24T=)
c.301-24T= (n.301-24T=)
c.-345-24T= (n.-345-24T=)
1g.63629403T>CCA2574393424PGM1c.247-22T>C (n.247-22T>C)
c.301-22T>C (n.301-22T>C)
c.-345-22T>C (n.-345-22T>C)
1g.63629403T>GCA2646028479PGM1c.247-22T>G (n.247-22T>G)
c.301-22T>G (n.301-22T>G)
c.-345-22T>G (n.-345-22T>G)
 gnomAD v4
1g.63629404G>ACA23831971PGM1c.247-21G>A (n.247-21G>A)
c.301-21G>A (n.301-21G>A)
c.-345-21G>A (n.-345-21G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.63629404G=CA1171571066PGM1c.247-21G= (n.247-21G=)
c.301-21G= (n.301-21G=)
c.-345-21G= (n.-345-21G=)
1g.63629406delCA2646028480PGM1c.247-19del (n.247-19del)
c.301-19del (n.301-19del)
c.-345-19del (n.-345-19del)
 gnomAD v4
1g.63629407C=CA1171571067PGM1c.247-18C= (n.247-18C=)
c.301-18C= (n.301-18C=)
c.-345-18C= (n.-345-18C=)
1g.63629407C>TCA23831972PGM1c.247-18C>T (n.247-18C>T)
c.301-18C>T (n.301-18C>T)
c.-345-18C>T (n.-345-18C>T)
 dbSNP gnomAD v4
1g.63629410G>TCA2646028481PGM1c.247-15G>T (n.247-15G>T)
c.301-15G>T (n.301-15G>T)
c.-345-15G>T (n.-345-15G>T)
 gnomAD v4
1g.63629412T>CCA2646028482PGM1c.247-13T>C (n.247-13T>C)
c.301-13T>C (n.301-13T>C)
c.-345-13T>C (n.-345-13T>C)
 gnomAD v4
1g.63629413T>ACA2743892758PGM1c.247-12T>A (n.247-12T>A)
c.301-12T>A (n.301-12T>A)
c.-345-12T>A (n.-345-12T>A)
1g.63629415C>TCA2574393425PGM1c.247-10C>T (n.247-10C>T)
c.301-10C>T (n.301-10C>T)
c.-345-10C>T (n.-345-10C>T)
1g.63629417T>ACA2743892759PGM1c.247-8T>A (n.247-8T>A)
c.301-8T>A (n.301-8T>A)
c.-345-8T>A (n.-345-8T>A)
1g.63629417_63629420delinsTCTCCA1171571068PGM1c.247-8_247-5delinsTCTC (n.247-8_247-5delinsTCTC)
c.301-8_301-5delinsTCTC (n.301-8_301-5delinsTCTC)
c.-345-8_-345-5delinsTCTC (n.-345-8_-345-5delinsTCTC)
1g.63629418C=CA1171571069PGM1c.247-7C= (n.247-7C=)
c.301-7C= (n.301-7C=)
c.-345-7C= (n.-345-7C=)
1g.63629418C>GCA2646028483PGM1c.247-7C>G (n.247-7C>G)
c.301-7C>G (n.301-7C>G)
c.-345-7C>G (n.-345-7C>G)
 gnomAD v4
1g.63629418C>TCA915941305PGM1c.247-7C>T (n.247-7C>T)
c.301-7C>T (n.301-7C>T)
c.-345-7C>T (n.-345-7C>T)
 ClinVar dbSNP gnomAD v4
1g.63629420_63629422delCA889490PGM1c.247-5_247-3del (n.247-5_247-3del)
c.301-5_301-3del (n.301-5_301-3del)
c.-345-5_-345-3del (n.-345-5_-345-3del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63629420C=CA1171571070PGM1c.247-5C= (n.247-5C=)
c.301-5C= (n.301-5C=)
c.-345-5C= (n.-345-5C=)
1g.63629420C>TCA1139656159PGM1c.247-5C>T (n.247-5C>T)
c.301-5C>T (n.301-5C>T)
c.-345-5C>T (n.-345-5C>T)
 ClinVar dbSNP
1g.63629421C=CA1171571071PGM1c.247-4C= (n.247-4C=)
c.301-4C= (n.301-4C=)
c.-345-4C= (n.-345-4C=)
1g.63629421C>TCA889491PGM1c.247-4C>T (n.247-4C>T)
c.301-4C>T (n.301-4C>T)
c.-345-4C>T (n.-345-4C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.63629422T>GCA23832006PGM1c.247-3T>G (n.247-3T>G)
c.301-3T>G (n.301-3T>G)
c.-345-3T>G (n.-345-3T>G)
 dbSNP
1g.63629422T=CA1141337276PGM1c.247-3T= (n.247-3T=)
c.301-3T= (n.301-3T=)
c.-345-3T= (n.-345-3T=)
1g.63629423A=CA1171571072PGM1c.247-2A= (n.247-2A=)
c.301-2A= (n.301-2A=)
c.-345-2A= (n.-345-2A=)
1g.63629423A>CCA340645404PGM1c.247-2A>C (n.247-2A>C)
c.301-2A>C (n.301-2A>C)
c.-345-2A>C (n.-345-2A>C)
1g.63629423A>GCA340645410PGM1c.247-2A>G (n.247-2A>G)
c.301-2A>G (n.301-2A>G)
c.-345-2A>G (n.-345-2A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.63629423A>TCA340645407PGM1c.247-2A>T (n.247-2A>T)
c.301-2A>T (n.301-2A>T)
c.-345-2A>T (n.-345-2A>T)
1g.63629424G>ACA340645412PGM1c.247-1G>A (n.247-1G>A)
c.301-1G>A (n.301-1G>A)
c.-345-1G>A (n.-345-1G>A)
1g.63629424G>CCA340645415PGM1c.247-1G>C (n.247-1G>C)
c.301-1G>C (n.301-1G>C)
c.-345-1G>C (n.-345-1G>C)
1g.63629424G>TCA340645413PGM1c.247-1G>T (n.247-1G>T)
c.301-1G>T (n.301-1G>T)
c.-345-1G>T (n.-345-1G>T)
1g.63629425A=CA1171571073PGM1c.247A= (p.Ile83=)
c.301A= (p.Ile101=)
c.-345A= (n.-345A=)
1g.63629425A>CCA340645418PGM1c.247A>C (p.Ile83Leu)
c.301A>C (p.Ile101Leu)
c.-345A>C (n.-345A>C)
1g.63629425A>GCA340645422PGM1c.247A>G (p.Ile83Val)
c.301A>G (p.Ile101Val)
c.-345A>G (n.-345A>G)
 dbSNP gnomAD v4
1g.63629425A>TCA340645421PGM1c.247A>T (p.Ile83Phe)
c.301A>T (p.Ile101Phe)
c.-345A>T (n.-345A>T)
 dbSNP
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=)
1g.63629440A=CA1139835933PGM1c.262A= (p.Ile88=)
c.316A= (p.Ile106=)
c.-330A= (n.-330A=)
1g.63629440A>CCA340645503PGM1c.262A>C (p.Ile88Leu)
c.316A>C (p.Ile106Leu)
c.-330A>C (n.-330A>C)
1g.63629440A>GCA889498PGM1c.262A>G (p.Ile88Val)
c.316A>G (p.Ile106Val)
c.-330A>G (n.-330A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63629440A>TCA340645506PGM1c.262A>T (p.Ile88Phe)
c.316A>T (p.Ile106Phe)
c.-330A>T (n.-330A>T)
1g.63629441T>ACA340645508PGM1c.263T>A (p.Ile88Asn)
c.317T>A (p.Ile106Asn)
c.-329T>A (n.-329T>A)
 gnomAD v4 COSMIC COSMIC
1g.63629441T>CCA889499PGM1c.263T>C (p.Ile88Thr)
c.317T>C (p.Ile106Thr)
c.-329T>C (n.-329T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.63629441T>GCA340645511PGM1c.263T>G (p.Ile88Ser)
c.317T>G (p.Ile106Ser)
c.-329T>G (n.-329T>G)
1g.63629441T=CA1171571078PGM1c.263T= (p.Ile88=)
c.317T= (p.Ile106=)
c.-329T= (n.-329T=)
1g.63629442C>ACA418207545PGM1c.264C>A (p.Ile88=)
c.318C>A (p.Ile106=)
c.-328C>A (n.-328C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.63629442C=CA1143449914PGM1c.264C= (p.Ile88=)
c.318C= (p.Ile106=)
c.-328C= (n.-328C=)
1g.63629442C>GCA340645513PGM1c.264C>G (p.Ile88Met)
c.318C>G (p.Ile106Met)
c.-328C>G (n.-328C>G)
1g.63629442C>TCA889500PGM1c.264C>T (p.Ile88=)
c.318C>T (p.Ile106=)
c.-328C>T (n.-328C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.63629443G>ACA889501PGM1c.265G>A (p.Gly89Arg)
c.319G>A (p.Gly107Arg)
c.-327G>A (n.-327G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63629443G>CCA340645519PGM1c.265G>C (p.Gly89Arg)
c.319G>C (p.Gly107Arg)
c.-327G>C (n.-327G>C)
1g.63629443G=CA1144196978PGM1c.265G= (p.Gly89=)
c.319G= (p.Gly107=)
c.-327G= (n.-327G=)
1g.63629443G>TCA340645518PGM1c.265G>T (p.Gly89Ter)
c.319G>T (p.Gly107Ter)
c.-327G>T (n.-327G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.63629443_63629444delinsTTCA2697552464PGM1c.265_266delinsTT (p.Gly89Leu)
c.319_320delinsTT (p.Gly107Leu)
c.-327_-326delinsTT (n.-327_-326delinsTT)
 ClinVar
1g.63629444G>ACA340645522PGM1c.266G>A (p.Gly89Glu)
c.320G>A (p.Gly107Glu)
c.-326G>A (n.-326G>A)
1g.63629444G>CCA340645524PGM1c.266G>C (p.Gly89Ala)
c.320G>C (p.Gly107Ala)
c.-326G>C (n.-326G>C)
1g.63629444G=CA1171571079PGM1c.266G= (p.Gly89=)
c.320G= (p.Gly107=)
c.-326G= (n.-326G=)
1g.63629444G>TCA340645526PGM1c.266G>T (p.Gly89Val)
c.320G>T (p.Gly107Val)
c.-326G>T (n.-326G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.63629445A=CA1171571080PGM1c.267A= (p.Gly89=)
c.321A= (p.Gly107=)
c.-325A= (n.-325A=)
1g.63629445A>CCA418207560PGM1c.267A>C (p.Gly89=)
c.321A>C (p.Gly107=)
c.-325A>C (n.-325A>C)
1g.63629445A>GCA889502PGM1c.267A>G (p.Gly89=)
c.321A>G (p.Gly107=)
c.-325A>G (n.-325A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.63629445A>TCA418207564PGM1c.267A>T (p.Gly89=)
c.321A>T (p.Gly107=)
c.-325A>T (n.-325A>T)
1g.63629446C>ACA340645532PGM1c.268C>A (p.Gln90Lys)
c.322C>A (p.Gln108Lys)
c.-324C>A (n.-324C>A)
1g.63629446C=CA1146353665PGM1c.268C= (p.Gln90=)
c.322C= (p.Gln108=)
c.-324C= (n.-324C=)
1g.63629446C>GCA340645535PGM1c.268C>G (p.Gln90Glu)
c.322C>G (p.Gln108Glu)
c.-324C>G (n.-324C>G)
1g.63629446C>TCA889503PGM1c.268C>T (p.Gln90Ter)
c.322C>T (p.Gln108Ter)
c.-324C>T (n.-324C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63629447A=CA1171571082PGM1c.269A= (p.Gln90=)
c.323A= (p.Gln108=)
c.-323A= (n.-323A=)
1g.63629447A>CCA340645537PGM1c.269A>C (p.Gln90Pro)
c.323A>C (p.Gln108Pro)
c.-323A>C (n.-323A>C)
1g.63629447A>GCA340645540PGM1c.269A>G (p.Gln90Arg)
c.323A>G (p.Gln108Arg)
c.-323A>G (n.-323A>G)
 dbSNP
1g.63629447A>TCA340645543PGM1c.269A>T (p.Gln90Leu)
c.323A>T (p.Gln108Leu)
c.-323A>T (n.-323A>T)
1g.63629447_63629448insAAACA1171571081PGM1c.269_270insAAA (p.Gln90_Asn91insLys)
c.323_324insAAA (p.Gln108_Asn109insLys)
c.-323_-322insAAA (n.-323_-322insAAA)
 dbSNP
1g.63629448G>ACA418207576PGM1c.270G>A (p.Gln90=)
c.324G>A (p.Gln108=)
c.-322G>A (n.-322G>A)
 dbSNP
1g.63629448G>CCA340645546PGM1c.270G>C (p.Gln90His)
c.324G>C (p.Gln108His)
c.-322G>C (n.-322G>C)
 dbSNP gnomAD v2 gnomAD v4
1g.63629448G=CA1171571083PGM1c.270G= (p.Gln90=)
c.324G= (p.Gln108=)
c.-322G= (n.-322G=)
1g.63629448G>TCA340645547PGM1c.270G>T (p.Gln90His)
c.324G>T (p.Gln108His)
c.-322G>T (n.-322G>T)
 COSMIC
1g.63629449A=CA1171571084PGM1c.271A= (p.Asn91=)
c.325A= (p.Asn109=)
c.-321A= (n.-321A=)
1g.63629449A>CCA340645554PGM1c.271A>C (p.Asn91His)
c.325A>C (p.Asn109His)
c.-321A>C (n.-321A>C)
1g.63629449A>GCA340645553PGM1c.271A>G (p.Asn91Asp)
c.325A>G (p.Asn109Asp)
c.-321A>G (n.-321A>G)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.63629449A>TCA340645550PGM1c.271A>T (p.Asn91Tyr)
c.325A>T (p.Asn109Tyr)
c.-321A>T (n.-321A>T)
1g.63629450A>CCA340645556PGM1c.272A>C (p.Asn91Thr)
c.326A>C (p.Asn109Thr)
c.-320A>C (n.-320A>C)
1g.63629450A>GCA340645561PGM1c.272A>G (p.Asn91Ser)
c.326A>G (p.Asn109Ser)
c.-320A>G (n.-320A>G)
1g.63629450A>TCA340645558PGM1c.272A>T (p.Asn91Ile)
c.326A>T (p.Asn109Ile)
c.-320A>T (n.-320A>T)
1g.63629451T>ACA340645562PGM1c.273T>A (p.Asn91Lys)
c.327T>A (p.Asn109Lys)
c.-319T>A (n.-319T>A)
1g.63629451T>CCA418207590PGM1c.273T>C (p.Asn91=)
c.327T>C (p.Asn109=)
c.-319T>C (n.-319T>C)
 dbSNP gnomAD v2 gnomAD v4
1g.63629451T>GCA340645563PGM1c.273T>G (p.Asn91Lys)
c.327T>G (p.Asn109Lys)
c.-319T>G (n.-319T>G)
1g.63629451T=CA1171571085PGM1c.273T= (p.Asn91=)
c.327T= (p.Asn109=)
c.-319T= (n.-319T=)
1g.63629451_63629452insAATACA1171571086PGM1c.273_274insAATA (p.Gly92AsnfsTer14)
c.327_328insAATA (p.Gly110AsnfsTer14)
c.-319_-318insAATA (n.-319_-318insAATA)
 dbSNP
1g.63629452G>ACA340645566PGM1c.274G>A (p.Gly92Arg)
c.328G>A (p.Gly110Arg)
c.-318G>A (n.-318G>A)
 gnomAD v4
1g.63629452G>CCA340645567PGM1c.274G>C (p.Gly92Arg)
c.328G>C (p.Gly110Arg)
c.-318G>C (n.-318G>C)
1g.63629452G>TCA340645570PGM1c.274G>T (p.Gly92Ter)
c.328G>T (p.Gly110Ter)
c.-318G>T (n.-318G>T)
1g.63629453G>ACA340645573PGM1c.275G>A (p.Gly92Glu)
c.329G>A (p.Gly110Glu)
c.-317G>A (n.-317G>A)
1g.63629453G>CCA340645575PGM1c.275G>C (p.Gly92Ala)
c.329G>C (p.Gly110Ala)
c.-317G>C (n.-317G>C)
1g.63629453G=CA1171571087PGM1c.275G= (p.Gly92=)
c.329G= (p.Gly110=)
c.-317G= (n.-317G=)
1g.63629453G>TCA340645577PGM1c.275G>T (p.Gly92Val)
c.329G>T (p.Gly110Val)
c.-317G>T (n.-317G>T)
 dbSNP
1g.63629454A>CCA418207603PGM1c.276A>C (p.Gly92=)
c.330A>C (p.Gly110=)
c.-316A>C (n.-316A>C)
1g.63629454A>GCA418207605PGM1c.276A>G (p.Gly92=)
c.330A>G (p.Gly110=)
c.-316A>G (n.-316A>G)
1g.63629454A>TCA418207607PGM1c.276A>T (p.Gly92=)
c.330A>T (p.Gly110=)
c.-316A>T (n.-316A>T)
1g.63629455A>CCA340645578PGM1c.277A>C (p.Ile93Leu)
c.331A>C (p.Ile111Leu)
c.-315A>C (n.-315A>C)
1g.63629455A>GCA340645579PGM1c.277A>G (p.Ile93Val)
c.331A>G (p.Ile111Val)
c.-315A>G (n.-315A>G)
 gnomAD v4
1g.63629455A>TCA340645582PGM1c.277A>T (p.Ile93Phe)
c.331A>T (p.Ile111Phe)
c.-315A>T (n.-315A>T)
1g.63629456T>ACA340645589PGM1c.278T>A (p.Ile93Asn)
c.332T>A (p.Ile111Asn)
c.-314T>A (n.-314T>A)
1g.63629456T>CCA340645585PGM1c.278T>C (p.Ile93Thr)
c.332T>C (p.Ile111Thr)
c.-314T>C (n.-314T>C)
1g.63629456T>GCA340645588PGM1c.278T>G (p.Ile93Ser)
c.332T>G (p.Ile111Ser)
c.-314T>G (n.-314T>G)
1g.63629457C>ACA418207619PGM1c.279C>A (p.Ile93=)
c.333C>A (p.Ile111=)
c.-313C>A (n.-313C>A)
1g.63629457C=CA1171571088PGM1c.279C= (p.Ile93=)
c.333C= (p.Ile111=)
c.-313C= (n.-313C=)
1g.63629457C>GCA340645592PGM1c.279C>G (p.Ile93Met)
c.333C>G (p.Ile111Met)
c.-313C>G (n.-313C>G)
1g.63629457C>TCA889504PGM1c.279C>T (p.Ile93=)
c.333C>T (p.Ile111=)
c.-313C>T (n.-313C>T)
 dbSNP ExAC gnomAD v2
1g.63629458C>ACA340645604PGM1c.280C>A (p.Leu94Ile)
c.334C>A (p.Leu112Ile)
c.-312C>A (n.-312C>A)
1g.63629458C>GCA340645606PGM1c.280C>G (p.Leu94Val)
c.334C>G (p.Leu112Val)
c.-312C>G (n.-312C>G)
1g.63629458C>TCA340645608PGM1c.280C>T (p.Leu94Phe)
c.334C>T (p.Leu112Phe)
c.-312C>T (n.-312C>T)
 gnomAD v4
1g.63629459T>ACA340645610PGM1c.281T>A (p.Leu94His)
c.335T>A (p.Leu112His)
c.-311T>A (n.-311T>A)
1g.63629459T>CCA340645612PGM1c.281T>C (p.Leu94Pro)
c.335T>C (p.Leu112Pro)
c.-311T>C (n.-311T>C)
1g.63629459T>GCA340645614PGM1c.281T>G (p.Leu94Arg)
c.335T>G (p.Leu112Arg)
c.-311T>G (n.-311T>G)
1g.63629460C>ACA418207638PGM1c.282C>A (p.Leu94=)
c.336C>A (p.Leu112=)
c.-310C>A (n.-310C>A)
1g.63629460C=CA1171571089PGM1c.282C= (p.Leu94=)
c.336C= (p.Leu112=)
c.-310C= (n.-310C=)
1g.63629460C>GCA418207639PGM1c.282C>G (p.Leu94=)
c.336C>G (p.Leu112=)
c.-310C>G (n.-310C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.63629460C>TCA418207636PGM1c.282C>T (p.Leu94=)
c.336C>T (p.Leu112=)
c.-310C>T (n.-310C>T)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.63629461T>ACA340645616PGM1c.283T>A (p.Ser95Thr)
c.337T>A (p.Ser113Thr)
c.-309T>A (n.-309T>A)
1g.63629461T>CCA340645617PGM1c.283T>C (p.Ser95Pro)
c.337T>C (p.Ser113Pro)
c.-309T>C (n.-309T>C)
1g.63629461T>GCA340645620PGM1c.283T>G (p.Ser95Ala)
c.337T>G (p.Ser113Ala)
c.-309T>G (n.-309T>G)
1g.63629462C>ACA340645624PGM1c.284C>A (p.Ser95Tyr)
c.338C>A (p.Ser113Tyr)
c.-308C>A (n.-308C>A)
1g.63629462C>GCA340645625PGM1c.284C>G (p.Ser95Cys)
c.338C>G (p.Ser113Cys)
c.-308C>G (n.-308C>G)
1g.63629462C>TCA340645622PGM1c.284C>T (p.Ser95Phe)
c.338C>T (p.Ser113Phe)
c.-308C>T (n.-308C>T)
1g.63629463C>ACA418207655PGM1c.285C>A (p.Ser95=)
c.339C>A (p.Ser113=)
c.-307C>A (n.-307C>A)
1g.63629463C>GCA418207652PGM1c.285C>G (p.Ser95=)
c.339C>G (p.Ser113=)
c.-307C>G (n.-307C>G)
1g.63629463C>TCA418207653PGM1c.285C>T (p.Ser95=)
c.339C>T (p.Ser113=)
c.-307C>T (n.-307C>T)
 gnomAD v4
1g.63629464A=CA1171571090PGM1c.286A= (p.Thr96=)
c.340A= (p.Thr114=)
c.-306A= (n.-306A=)
1g.63629464A>CCA340645627PGM1c.286A>C (p.Thr96Pro)
c.340A>C (p.Thr114Pro)
c.-306A>C (n.-306A>C)
 dbSNP
1g.63629464A>GCA340645628PGM1c.286A>G (p.Thr96Ala)
c.340A>G (p.Thr114Ala)
c.-306A>G (n.-306A>G)
1g.63629464A>TCA340645630PGM1c.286A>T (p.Thr96Ser)
c.340A>T (p.Thr114Ser)
c.-306A>T (n.-306A>T)
1g.63629465C>ACA23832067PGM1c.287C>A (p.Thr96Asn)
c.341C>A (p.Thr114Asn)
c.-305C>A (n.-305C>A)
 dbSNP gnomAD v4
1g.63629465C=CA1171571091PGM1c.287C= (p.Thr96=)
c.341C= (p.Thr114=)
c.-305C= (n.-305C=)
1g.63629465C>GCA340645632PGM1c.287C>G (p.Thr96Ser)
c.341C>G (p.Thr114Ser)
c.-305C>G (n.-305C>G)
1g.63629465C>TCA340645635PGM1c.287C>T (p.Thr96Ile)
c.341C>T (p.Thr114Ile)
c.-305C>T (n.-305C>T)
1g.63629466C>ACA418207668PGM1c.288C>A (p.Thr96=)
c.342C>A (p.Thr114=)
c.-304C>A (n.-304C>A)
1g.63629466C=CA1171571092PGM1c.288C= (p.Thr96=)
c.342C= (p.Thr114=)
c.-304C= (n.-304C=)
1g.63629466C>GCA418207672PGM1c.288C>G (p.Thr96=)
c.342C>G (p.Thr114=)
c.-304C>G (n.-304C>G)
1g.63629466C>TCA418207670PGM1c.288C>T (p.Thr96=)
c.342C>T (p.Thr114=)
c.-304C>T (n.-304C>T)
 dbSNP gnomAD v2 gnomAD v4
1g.63629467C>ACA340645637PGM1c.289C>A (p.Pro97Thr)
c.343C>A (p.Pro115Thr)
c.-303C>A (n.-303C>A)
1g.63629467C>GCA340645639PGM1c.289C>G (p.Pro97Ala)
c.343C>G (p.Pro115Ala)
c.-303C>G (n.-303C>G)
1g.63629467C>TCA340645641PGM1c.289C>T (p.Pro97Ser)
c.343C>T (p.Pro115Ser)
c.-303C>T (n.-303C>T)
1g.63629468C>ACA340645642PGM1c.290C>A (p.Pro97His)
c.344C>A (p.Pro115His)
c.-302C>A (n.-302C>A)
1g.63629468C=CA1171571093PGM1c.290C= (p.Pro97=)
c.344C= (p.Pro115=)
c.-302C= (n.-302C=)
1g.63629468C>GCA340645645PGM1c.290C>G (p.Pro97Arg)
c.344C>G (p.Pro115Arg)
c.-302C>G (n.-302C>G)
 gnomAD v4
1g.63629468C>TCA23832073PGM1c.290C>T (p.Pro97Leu)
c.344C>T (p.Pro115Leu)
c.-302C>T (n.-302C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.63629469T>ACA418207684PGM1c.291T>A (p.Pro97=)
c.345T>A (p.Pro115=)
c.-301T>A (n.-301T>A)
1g.63629469T>CCA418207685PGM1c.291T>C (p.Pro97=)
c.345T>C (p.Pro115=)
c.-301T>C (n.-301T>C)
1g.63629469T>GCA418207688PGM1c.291T>G (p.Pro97=)
c.345T>G (p.Pro115=)
c.-301T>G (n.-301T>G)
1g.63629470G>ACA340645650PGM1c.292G>A (p.Ala98Thr)
c.346G>A (p.Ala116Thr)
c.-300G>A (n.-300G>A)
1g.63629470G>CCA340645652PGM1c.292G>C (p.Ala98Pro)
c.346G>C (p.Ala116Pro)
c.-300G>C (n.-300G>C)
1g.63629470G>TCA340645649PGM1c.292G>T (p.Ala98Ser)
c.346G>T (p.Ala116Ser)
c.-300G>T (n.-300G>T)
1g.63629471C>ACA340645656PGM1c.293C>A (p.Ala98Asp)
c.347C>A (p.Ala116Asp)
c.-299C>A (n.-299C>A)
1g.63629471C>GCA340645658PGM1c.293C>G (p.Ala98Gly)
c.347C>G (p.Ala116Gly)
c.-299C>G (n.-299C>G)
1g.63629471C>TCA340645660PGM1c.293C>T (p.Ala98Val)
c.347C>T (p.Ala116Val)
c.-299C>T (n.-299C>T)
1g.63629472T>ACA889505PGM1c.294T>A (p.Ala98=)
c.348T>A (p.Ala116=)
c.-298T>A (n.-298T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63629472T>CCA418207700PGM1c.294T>C (p.Ala98=)
c.348T>C (p.Ala116=)
c.-298T>C (n.-298T>C)
 dbSNP gnomAD v3 gnomAD v4
1g.63629472T>GCA418207701PGM1c.294T>G (p.Ala98=)
c.348T>G (p.Ala116=)
c.-298T>G (n.-298T>G)
1g.63629472T=CA1171571094PGM1c.294T= (p.Ala98=)
c.348T= (p.Ala116=)
c.-298T= (n.-298T=)
1g.63629473G>ACA340645670PGM1c.295G>A (p.Val99Ile)
c.349G>A (p.Val117Ile)
c.-297G>A (n.-297G>A)
 dbSNP gnomAD v4
1g.63629473G>CCA340645667PGM1c.295G>C (p.Val99Leu)
c.349G>C (p.Val117Leu)
c.-297G>C (n.-297G>C)
1g.63629473G=CA1171571095PGM1c.295G= (p.Val99=)
c.349G= (p.Val117=)
c.-297G= (n.-297G=)
1g.63629473G>TCA340645665PGM1c.295G>T (p.Val99Leu)
c.349G>T (p.Val117Leu)
c.-297G>T (n.-297G>T)
1g.63629474T>ACA340645671PGM1c.296T>A (p.Val99Glu)
c.350T>A (p.Val117Glu)
c.-296T>A (n.-296T>A)
1g.63629474T>CCA340645673PGM1c.296T>C (p.Val99Ala)
c.350T>C (p.Val117Ala)
c.-296T>C (n.-296T>C)
1g.63629474T>GCA340645675PGM1c.296T>G (p.Val99Gly)
c.350T>G (p.Val117Gly)
c.-296T>G (n.-296T>G)
1g.63629475A>CCA418207715PGM1c.297A>C (p.Val99=)
c.351A>C (p.Val117=)
c.-295A>C (n.-295A>C)
1g.63629475A>GCA418207718PGM1c.297A>G (p.Val99=)
c.351A>G (p.Val117=)
c.-295A>G (n.-295A>G)
1g.63629475A>TCA418207720PGM1c.297A>T (p.Val99=)
c.351A>T (p.Val117=)
c.-295A>T (n.-295A>T)
1g.63629476T>ACA340645677PGM1c.298T>A (p.Ser100Thr)
c.352T>A (p.Ser118Thr)
c.-294T>A (n.-294T>A)
1g.63629476T>CCA340645680PGM1c.298T>C (p.Ser100Pro)
c.352T>C (p.Ser118Pro)
c.-294T>C (n.-294T>C)
1g.63629476T>GCA340645692PGM1c.298T>G (p.Ser100Ala)
c.352T>G (p.Ser118Ala)
c.-294T>G (n.-294T>G)
1g.63629477C>ACA340645701PGM1c.299C>A (p.Ser100Tyr)
c.353C>A (p.Ser118Tyr)
c.-293C>A (n.-293C>A)
1g.63629477C=CA1171571096PGM1c.299C= (p.Ser100=)
c.353C= (p.Ser118=)
c.-293C= (n.-293C=)
1g.63629477C>GCA340645695PGM1c.299C>G (p.Ser100Cys)
c.353C>G (p.Ser118Cys)
c.-293C>G (n.-293C>G)
 gnomAD v4
1g.63629477C>TCA340645696PGM1c.299C>T (p.Ser100Phe)
c.353C>T (p.Ser118Phe)
c.-293C>T (n.-293C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.63629478C>ACA418207733PGM1c.300C>A (p.Ser100=)
c.354C>A (p.Ser118=)
c.-292C>A (n.-292C>A)
1g.63629478C>GCA418207734PGM1c.300C>G (p.Ser100=)
c.354C>G (p.Ser118=)
c.-292C>G (n.-292C>G)
 ClinVar
1g.63629478C>TCA418207736PGM1c.300C>T (p.Ser100=)
c.354C>T (p.Ser118=)
c.-292C>T (n.-292C>T)
 dbSNP
1g.63629479T>ACA340645703PGM1c.301T>A (p.Cys101Ser)
c.355T>A (p.Cys119Ser)
c.-291T>A (n.-291T>A)
1g.63629479T>CCA340645709PGM1c.301T>C (p.Cys101Arg)
c.355T>C (p.Cys119Arg)
c.-291T>C (n.-291T>C)
1g.63629479T>GCA340645706PGM1c.301T>G (p.Cys101Gly)
c.355T>G (p.Cys119Gly)
c.-291T>G (n.-291T>G)
 dbSNP
1g.63629479T=CA1171571097PGM1c.301T= (p.Cys101=)
c.355T= (p.Cys119=)
c.-291T= (n.-291T=)
1g.63629480G>ACA340645712PGM1c.302G>A (p.Cys101Tyr)
c.356G>A (p.Cys119Tyr)
c.-290G>A (n.-290G>A)
1g.63629480G>CCA340645714PGM1c.302G>C (p.Cys101Ser)
c.356G>C (p.Cys119Ser)
c.-290G>C (n.-290G>C)
1g.63629480G>TCA340645713PGM1c.302G>T (p.Cys101Phe)
c.356G>T (p.Cys119Phe)
c.-290G>T (n.-290G>T)
1g.63629481C>ACA340645715PGM1c.303C>A (p.Cys101Ter)
c.357C>A (p.Cys119Ter)
c.-289C>A (n.-289C>A)
1g.63629481C>GCA340645716PGM1c.303C>G (p.Cys101Trp)
c.357C>G (p.Cys119Trp)
c.-289C>G (n.-289C>G)
1g.63629481C>TCA418207747PGM1c.303C>T (p.Cys101=)
c.357C>T (p.Cys119=)
c.-289C>T (n.-289C>T)
1g.63629482A>CCA340645717PGM1c.304A>C (p.Ile102Leu)
c.358A>C (p.Ile120Leu)
c.-288A>C (n.-288A>C)
1g.63629482A>GCA340645719PGM1c.304A>G (p.Ile102Val)
c.358A>G (p.Ile120Val)
c.-288A>G (n.-288A>G)
1g.63629482A>TCA340645721PGM1c.304A>T (p.Ile102Phe)
c.358A>T (p.Ile120Phe)
c.-288A>T (n.-288A>T)
1g.63629483T>ACA340645724PGM1c.305T>A (p.Ile102Asn)
c.359T>A (p.Ile120Asn)
c.-287T>A (n.-287T>A)
1g.63629483T>CCA340645726PGM1c.305T>C (p.Ile102Thr)
c.359T>C (p.Ile120Thr)
c.-287T>C (n.-287T>C)
1g.63629483T>GCA340645729PGM1c.305T>G (p.Ile102Ser)
c.359T>G (p.Ile120Ser)
c.-287T>G (n.-287T>G)
1g.63629484C>ACA418207759PGM1c.306C>A (p.Ile102=)
c.360C>A (p.Ile120=)
c.-286C>A (n.-286C>A)
1g.63629484C=CA1148400254PGM1c.306C= (p.Ile102=)
c.360C= (p.Ile120=)
c.-286C= (n.-286C=)
1g.63629484C>GCA340645733PGM1c.306C>G (p.Ile102Met)
c.360C>G (p.Ile120Met)
c.-286C>G (n.-286C>G)
1g.63629484C>TCA889506PGM1c.306C>T (p.Ile102=)
c.360C>T (p.Ile120=)
c.-286C>T (n.-286C>T)
 dbSNP ExAC gnomAD v2
1g.63629485A>CCA340645748PGM1c.307A>C (p.Ile103Leu)
c.361A>C (p.Ile121Leu)
c.-285A>C (n.-285A>C)
1g.63629485A>GCA340645745PGM1c.307A>G (p.Ile103Val)
c.361A>G (p.Ile121Val)
c.-285A>G (n.-285A>G)
 gnomAD v4
1g.63629485A>TCA340645740PGM1c.307A>T (p.Ile103Phe)
c.361A>T (p.Ile121Phe)
c.-285A>T (n.-285A>T)
1g.63629486T>ACA340645750PGM1c.308T>A (p.Ile103Asn)
c.362T>A (p.Ile121Asn)
c.-284T>A (n.-284T>A)
1g.63629486T>CCA340645753PGM1c.308T>C (p.Ile103Thr)
c.362T>C (p.Ile121Thr)
c.-284T>C (n.-284T>C)
1g.63629486T>GCA340645756PGM1c.308T>G (p.Ile103Ser)
c.362T>G (p.Ile121Ser)
c.-284T>G (n.-284T>G)
1g.63629487T>ACA418207773PGM1c.309T>A (p.Ile103=)
c.363T>A (p.Ile121=)
c.-283T>A (n.-283T>A)
1g.63629487T>CCA418207770PGM1c.309T>C (p.Ile103=)
c.363T>C (p.Ile121=)
c.-283T>C (n.-283T>C)
 gnomAD v4
1g.63629487T>GCA340645758PGM1c.309T>G (p.Ile103Met)
c.363T>G (p.Ile121Met)
c.-283T>G (n.-283T>G)
 gnomAD v4
1g.63629488A>CCA418207776PGM1c.310A>C (p.Arg104=)
c.364A>C (p.Arg122=)
c.-282A>C (n.-282A>C)
1g.63629488A>GCA340645761PGM1c.310A>G (p.Arg104Gly)
c.364A>G (p.Arg122Gly)
c.-282A>G (n.-282A>G)
1g.63629488A>TCA340645767PGM1c.310A>T (p.Arg104Ter)
c.364A>T (p.Arg122Ter)
c.-282A>T (n.-282A>T)
1g.63629489G>ACA340645774PGM1c.311G>A (p.Arg104Lys)
c.365G>A (p.Arg122Lys)
c.-281G>A (n.-281G>A)
1g.63629489G>CCA340645777PGM1c.311G>C (p.Arg104Thr)
c.365G>C (p.Arg122Thr)
c.-281G>C (n.-281G>C)
1g.63629489G=CA1171571098PGM1c.311G= (p.Arg104=)
c.365G= (p.Arg122=)
c.-281G= (n.-281G=)
1g.63629489G>TCA340645780PGM1c.311G>T (p.Arg104Ile)
c.365G>T (p.Arg122Ile)
c.-281G>T (n.-281G>T)
 dbSNP gnomAD v2 gnomAD v4
1g.63629490A=CA1171571099PGM1c.312A= (p.Arg104=)
c.366A= (p.Arg122=)
c.-280A= (n.-280A=)
1g.63629490A>CCA340645783PGM1c.312A>C (p.Arg104Ser)
c.366A>C (p.Arg122Ser)
c.-280A>C (n.-280A>C)
1g.63629490A>GCA418207785PGM1c.312A>G (p.Arg104=)
c.366A>G (p.Arg122=)
c.-280A>G (n.-280A>G)
1g.63629490A>TCA889507PGM1c.312A>T (p.Arg104Ser)
c.366A>T (p.Arg122Ser)
c.-280A>T (n.-280A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.63629494dupCA523752297PGM1c.316dup (p.Ile106AsnfsTer30)
c.370dup (p.Ile124AsnfsTer30)
c.-276dup (n.-276dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.63629491A=CA1171571100PGM1c.313A= (p.Lys105=)
c.367A= (p.Lys123=)
c.-279A= (n.-279A=)
1g.63629491A>CCA340645790PGM1c.313A>C (p.Lys105Gln)
c.367A>C (p.Lys123Gln)
c.-279A>C (n.-279A>C)
1g.63629491A>GCA340645793PGM1c.313A>G (p.Lys105Glu)
c.367A>G (p.Lys123Glu)
c.-279A>G (n.-279A>G)
 COSMIC COSMIC
1g.63629491A>TCA23832110PGM1c.313A>T (p.Lys105Ter)
c.367A>T (p.Lys123Ter)
c.-279A>T (n.-279A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.63629492A>CCA340645797PGM1c.314A>C (p.Lys105Thr)
c.368A>C (p.Lys123Thr)
c.-278A>C (n.-278A>C)
1g.63629492A>GCA340645800PGM1c.314A>G (p.Lys105Arg)
c.368A>G (p.Lys123Arg)
c.-278A>G (n.-278A>G)
1g.63629492A>TCA340645812PGM1c.314A>T (p.Lys105Ile)
c.368A>T (p.Lys123Ile)
c.-278A>T (n.-278A>T)
1g.63629493A>CCA340645816PGM1c.315A>C (p.Lys105Asn)
c.369A>C (p.Lys123Asn)
c.-277A>C (n.-277A>C)
1g.63629493A>GCA418207797PGM1c.315A>G (p.Lys105=)
c.369A>G (p.Lys123=)
c.-277A>G (n.-277A>G)
1g.63629493A>TCA340645820PGM1c.315A>T (p.Lys105Asn)
c.369A>T (p.Lys123Asn)
c.-277A>T (n.-277A>T)
1g.63629494A>CCA340645824PGM1c.316A>C (p.Ile106Leu)
c.370A>C (p.Ile124Leu)
c.-276A>C (n.-276A>C)
1g.63629494A>GCA340645826PGM1c.316A>G (p.Ile106Val)
c.370A>G (p.Ile124Val)
c.-276A>G (n.-276A>G)
1g.63629494A>TCA340645827PGM1c.316A>T (p.Ile106Phe)
c.370A>T (p.Ile124Phe)
c.-276A>T (n.-276A>T)
1g.63629495T>ACA340645830PGM1c.317T>A (p.Ile106Asn)
c.371T>A (p.Ile124Asn)
c.-275T>A (n.-275T>A)
1g.63629495T>CCA340645832PGM1c.317T>C (p.Ile106Thr)
c.371T>C (p.Ile124Thr)
c.-275T>C (n.-275T>C)
1g.63629495T>GCA340645844PGM1c.317T>G (p.Ile106Ser)
c.371T>G (p.Ile124Ser)
c.-275T>G (n.-275T>G)
1g.63629496C>ACA418207808PGM1c.318C>A (p.Ile106=)
c.372C>A (p.Ile124=)
c.-274C>A (n.-274C>A)
 dbSNP gnomAD v2 gnomAD v4
1g.63629496C=CA1171571101PGM1c.318C= (p.Ile106=)
c.372C= (p.Ile124=)
c.-274C= (n.-274C=)
1g.63629496C>GCA889508PGM1c.318C>G (p.Ile106Met)
c.372C>G (p.Ile124Met)
c.-274C>G (n.-274C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.63629496C>TCA418207811PGM1c.318C>T (p.Ile106=)
c.372C>T (p.Ile124=)
c.-274C>T (n.-274C>T)
1g.63629497A>CCA340645846PGM1c.319A>C (p.Lys107Gln)
c.373A>C (p.Lys125Gln)
c.-273A>C (n.-273A>C)
1g.63629497A>GCA340645848PGM1c.319A>G (p.Lys107Glu)
c.373A>G (p.Lys125Glu)
c.-273A>G (n.-273A>G)
 gnomAD v4
1g.63629497A>TCA340645845PGM1c.319A>T (p.Lys107Ter)
c.373A>T (p.Lys125Ter)
c.-273A>T (n.-273A>T)
1g.63629498A=CA1171571102PGM1c.320A= (p.Lys107=)
c.374A= (p.Lys125=)
c.-272A= (n.-272A=)
1g.63629498A>CCA23832131PGM1c.320A>C (p.Lys107Thr)
c.374A>C (p.Lys125Thr)
c.-272A>C (n.-272A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.63629498A>GCA340645853PGM1c.320A>G (p.Lys107Arg)
c.374A>G (p.Lys125Arg)
c.-272A>G (n.-272A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.63629498A>TCA340645855PGM1c.320A>T (p.Lys107Ile)
c.374A>T (p.Lys125Ile)
c.-272A>T (n.-272A>T)

Number of alleles fetched