| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.63629521A= | CA1141580822 | PGM1 | c.343A= (p.Thr115=) c.397A= (p.Thr133=) c.-249A= (n.-249A=) | |
| 1 | g.63629521A>C | CA340646025 | PGM1 | c.343A>C (p.Thr115Pro) c.397A>C (p.Thr133Pro) c.-249A>C (n.-249A>C) | dbSNP |
| 1 | g.63629521A>G | CA123324 | PGM1 | c.343A>G (p.Thr115Ala) c.397A>G (p.Thr133Ala) c.-249A>G (n.-249A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.63629521A>T | CA340646032 | PGM1 | c.343A>T (p.Thr115Ser) c.397A>T (p.Thr133Ser) c.-249A>T (n.-249A>T) | |
| 1 | g.63629522C>A | CA340646036 | PGM1 | c.344C>A (p.Thr115Lys) c.398C>A (p.Thr133Lys) c.-248C>A (n.-248C>A) | |
| 1 | g.63629522C>G | CA340646044 | PGM1 | c.344C>G (p.Thr115Arg) c.398C>G (p.Thr133Arg) c.-248C>G (n.-248C>G) | |
| 1 | g.63629522C>T | CA340646045 | PGM1 | c.344C>T (p.Thr115Ile) c.398C>T (p.Thr133Ile) c.-248C>T (n.-248C>T) | |
| 1 | g.63629523A= | CA1171571112 | PGM1 | c.345A= (p.Thr115=) c.399A= (p.Thr133=) c.-247A= (n.-247A=) | |
| 1 | g.63629523A>C | CA418207925 | PGM1 | c.345A>C (p.Thr115=) c.399A>C (p.Thr133=) c.-247A>C (n.-247A>C) | |
| 1 | g.63629523A>G | CA418207928 | PGM1 | c.345A>G (p.Thr115=) c.399A>G (p.Thr133=) c.-247A>G (n.-247A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.63629523A>T | CA418207930 | PGM1 | c.345A>T (p.Thr115=) c.399A>T (p.Thr133=) c.-247A>T (n.-247A>T) | |
| 1 | g.63629524G>A | CA340646048 | PGM1 | c.346G>A (p.Ala116Thr) c.400G>A (p.Ala134Thr) c.-246G>A (n.-246G>A) | COSMIC |
| 1 | g.63629524G>C | CA340646051 | PGM1 | c.346G>C (p.Ala116Pro) c.400G>C (p.Ala134Pro) c.-246G>C (n.-246G>C) | |
| 1 | g.63629524G>T | CA340646054 | PGM1 | c.346G>T (p.Ala116Ser) c.400G>T (p.Ala134Ser) c.-246G>T (n.-246G>T) | |
| 1 | g.63629525C>A | CA340646064 | PGM1 | c.347C>A (p.Ala116Asp) c.401C>A (p.Ala134Asp) c.-245C>A (n.-245C>A) | |
| 1 | g.63629525C= | CA1143972739 | PGM1 | c.347C= (p.Ala116=) c.401C= (p.Ala134=) c.-245C= (n.-245C=) | |
| 1 | g.63629525C>G | CA23832149 | PGM1 | c.347C>G (p.Ala116Gly) c.401C>G (p.Ala134Gly) c.-245C>G (n.-245C>G) | dbSNP gnomAD v4 |
| 1 | g.63629525C>T | CA340646067 | PGM1 | c.347C>T (p.Ala116Val) c.401C>T (p.Ala134Val) c.-245C>T (n.-245C>T) | gnomAD v4 |
| 1 | g.63629526C>A | CA418207938 | PGM1 | c.348C>A (p.Ala116=) c.402C>A (p.Ala134=) c.-244C>A (n.-244C>A) | |
| 1 | g.63629526C= | CA1171571113 | PGM1 | c.348C= (p.Ala116=) c.402C= (p.Ala134=) c.-244C= (n.-244C=) | |
| 1 | g.63629526C>G | CA418207942 | PGM1 | c.348C>G (p.Ala116=) c.402C>G (p.Ala134=) c.-244C>G (n.-244C>G) | |
| 1 | g.63629526C>T | CA418207940 | PGM1 | c.348C>T (p.Ala116=) c.402C>T (p.Ala134=) c.-244C>T (n.-244C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.63629527A= | CA1171571114 | PGM1 | c.349A= (p.Ser117=) c.403A= (p.Ser135=) c.-243A= (n.-243A=) | |
| 1 | g.63629527A>C | CA340646074 | PGM1 | c.349A>C (p.Ser117Arg) c.403A>C (p.Ser135Arg) c.-243A>C (n.-243A>C) | |
| 1 | g.63629527A>G | CA340646072 | PGM1 | c.349A>G (p.Ser117Gly) c.403A>G (p.Ser135Gly) c.-243A>G (n.-243A>G) | dbSNP |
| 1 | g.63629527A>T | CA340646069 | PGM1 | c.349A>T (p.Ser117Cys) c.403A>T (p.Ser135Cys) c.-243A>T (n.-243A>T) | |
| 1 | g.63629528G>A | CA340646077 | PGM1 | c.350G>A (p.Ser117Asn) c.404G>A (p.Ser135Asn) c.-242G>A (n.-242G>A) | gnomAD v4 |
| 1 | g.63629528G>C | CA340646083 | PGM1 | c.350G>C (p.Ser117Thr) c.404G>C (p.Ser135Thr) c.-242G>C (n.-242G>C) | gnomAD v4 |
| 1 | g.63629528G>T | CA340646086 | PGM1 | c.350G>T (p.Ser117Ile) c.404G>T (p.Ser135Ile) c.-242G>T (n.-242G>T) | |
| 1 | g.63629529T>A | CA340646087 | PGM1 | c.351T>A (p.Ser117Arg) c.405T>A (p.Ser135Arg) c.-241T>A (n.-241T>A) | |
| 1 | g.63629529T>C | CA418207949 | PGM1 | c.351T>C (p.Ser117=) c.405T>C (p.Ser135=) c.-241T>C (n.-241T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.63629529T>G | CA340646089 | PGM1 | c.351T>G (p.Ser117Arg) c.405T>G (p.Ser135Arg) c.-241T>G (n.-241T>G) | |
| 1 | g.63629529T= | CA1171571115 | PGM1 | c.351T= (p.Ser117=) c.405T= (p.Ser135=) c.-241T= (n.-241T=) | |
| 1 | g.63629530C>A | CA340646092 | PGM1 | c.352C>A (p.His118Asn) c.406C>A (p.His136Asn) c.-240C>A (n.-240C>A) | |
| 1 | g.63629530C>G | CA340646094 | PGM1 | c.352C>G (p.His118Asp) c.406C>G (p.His136Asp) c.-240C>G (n.-240C>G) | |
| 1 | g.63629530C>T | CA340646095 | PGM1 | c.352C>T (p.His118Tyr) c.406C>T (p.His136Tyr) c.-240C>T (n.-240C>T) | |
| 1 | g.63629532_63629533dup | CA2646028484 | PGM1 | c.354_355dup (p.Asn119ThrfsTer26) c.408_409dup (p.Asn137ThrfsTer26) c.-238_-237dup (n.-238_-237dup) | gnomAD v4 |
| 1 | g.63629532_63629533del | CA2574393427 | PGM1 | c.354_355del (p.His118GlnfsTer17) c.408_409del (p.His136GlnfsTer17) c.-238_-237del (n.-238_-237del) | |
| 1 | g.63629531A>C | CA340646098 | PGM1 | c.353A>C (p.His118Pro) c.407A>C (p.His136Pro) c.-239A>C (n.-239A>C) | |
| 1 | g.63629531A>G | CA340646099 | PGM1 | c.353A>G (p.His118Arg) c.407A>G (p.His136Arg) c.-239A>G (n.-239A>G) | |
| 1 | g.63629531A>T | CA340646100 | PGM1 | c.353A>T (p.His118Leu) c.407A>T (p.His136Leu) c.-239A>T (n.-239A>T) | |
| 1 | g.63629532C>A | CA340646101 | PGM1 | c.354C>A (p.His118Gln) c.408C>A (p.His136Gln) c.-238C>A (n.-238C>A) | |
| 1 | g.63629532C>G | CA340646102 | PGM1 | c.354C>G (p.His118Gln) c.408C>G (p.His136Gln) c.-238C>G (n.-238C>G) | |
| 1 | g.63629532C>T | CA418207965 | PGM1 | c.354C>T (p.His118=) c.408C>T (p.His136=) c.-238C>T (n.-238C>T) | gnomAD v4 |
| 1 | g.63629533A>C | CA340646107 | PGM1 | c.355A>C (p.Asn119His) c.409A>C (p.Asn137His) c.-237A>C (n.-237A>C) | |
| 1 | g.63629533A>G | CA340646105 | PGM1 | c.355A>G (p.Asn119Asp) c.409A>G (p.Asn137Asp) c.-237A>G (n.-237A>G) | |
| 1 | g.63629533A>T | CA340646103 | PGM1 | c.355A>T (p.Asn119Tyr) c.409A>T (p.Asn137Tyr) c.-237A>T (n.-237A>T) | |
| 1 | g.63629534A= | CA1171571116 | PGM1 | c.356A= (p.Asn119=) c.410A= (p.Asn137=) c.-236A= (n.-236A=) | |
| 1 | g.63629534A>C | CA340646109 | PGM1 | c.356A>C (p.Asn119Thr) c.410A>C (p.Asn137Thr) c.-236A>C (n.-236A>C) | |
| 1 | g.63629534A>G | CA340646115 | PGM1 | c.356A>G (p.Asn119Ser) c.410A>G (p.Asn137Ser) c.-236A>G (n.-236A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |