Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched