Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |
1 | g.63629534A>T | CA340646112 | PGM1 | c.356A>T (p.Asn119Ile) c.410A>T (p.Asn137Ile) c.-236A>T (n.-236A>T) | |
1 | g.63629535C>A | CA340646117 | PGM1 | c.357C>A (p.Asn119Lys) c.411C>A (p.Asn137Lys) c.-235C>A (n.-235C>A) | gnomAD v4 |
1 | g.63629535C= | CA1147981165 | PGM1 | c.357C= (p.Asn119=) c.411C= (p.Asn137=) c.-235C= (n.-235C=) | |
1 | g.63629535C>G | CA340646124 | PGM1 | c.357C>G (p.Asn119Lys) c.411C>G (p.Asn137Lys) c.-235C>G (n.-235C>G) | |
1 | g.63629535C>T | CA889514 | PGM1 | c.357C>T (p.Asn119=) c.411C>T (p.Asn137=) c.-235C>T (n.-235C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.63629536C>A | CA340646130 | PGM1 | c.358C>A (p.Pro120Thr) c.412C>A (p.Pro138Thr) c.-234C>A (n.-234C>A) | |
1 | g.63629536C= | CA1171571117 | PGM1 | c.358C= (p.Pro120=) c.412C= (p.Pro138=) c.-234C= (n.-234C=) | |
1 | g.63629536C>G | CA340646133 | PGM1 | c.358C>G (p.Pro120Ala) c.412C>G (p.Pro138Ala) c.-234C>G (n.-234C>G) | |
1 | g.63629536C>T | CA340646134 | PGM1 | c.358C>T (p.Pro120Ser) c.412C>T (p.Pro138Ser) c.-234C>T (n.-234C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.63629537C>A | CA340646135 | PGM1 | c.359C>A (p.Pro120Gln) c.413C>A (p.Pro138Gln) c.-233C>A (n.-233C>A) | |
1 | g.63629537C= | CA1171571118 | PGM1 | c.359C= (p.Pro120=) c.413C= (p.Pro138=) c.-233C= (n.-233C=) | |
1 | g.63629537C>G | CA340646139 | PGM1 | c.359C>G (p.Pro120Arg) c.413C>G (p.Pro138Arg) c.-233C>G (n.-233C>G) | |
1 | g.63629537C>T | CA340646142 | PGM1 | c.359C>T (p.Pro120Leu) c.413C>T (p.Pro138Leu) c.-233C>T (n.-233C>T) | dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.63629538A= | CA1171571119 | PGM1 | c.360A= (p.Pro120=) c.414A= (p.Pro138=) c.-232A= (n.-232A=) | |
1 | g.63629538A>C | CA418207987 | PGM1 | c.360A>C (p.Pro120=) c.414A>C (p.Pro138=) c.-232A>C (n.-232A>C) | |
1 | g.63629538A>G | CA23832158 | PGM1 | c.360A>G (p.Pro120=) c.414A>G (p.Pro138=) c.-232A>G (n.-232A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629538A>T | CA418207992 | PGM1 | c.360A>T (p.Pro120=) c.414A>T (p.Pro138=) c.-232A>T (n.-232A>T) | |
1 | g.63629539G>A | CA340646148 | PGM1 | c.361G>A (p.Gly121Arg) c.415G>A (p.Gly139Arg) c.-231G>A (n.-231G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629539G>C | CA130545 | PGM1 | c.361G>C (p.Gly121Arg) c.415G>C (p.Gly139Arg) c.-231G>C (n.-231G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.63629539G= | CA1144232888 | PGM1 | c.361G= (p.Gly121=) c.415G= (p.Gly139=) c.-231G= (n.-231G=) | |
1 | g.63629539G>T | CA889515 | PGM1 | c.361G>T (p.Gly121Trp) c.415G>T (p.Gly139Trp) c.-231G>T (n.-231G>T) | dbSNP ExAC gnomAD v2 |
1 | g.63629543dup | CA2743892760 | PGM1 | c.365dup (p.Asn124GlnfsTer12) c.419dup (p.Asn142GlnfsTer12) c.-227dup (n.-227dup) | |
1 | g.63629542_63629543dup | CA2743892761 | PGM1 | c.364_365dup (p.Pro123AlafsTer22) c.418_419dup (p.Pro141AlafsTer22) c.-228_-227dup (n.-228_-227dup) | |
1 | g.63629543del | CA645523574 | PGM1 | c.365del (p.Gly122AlafsTer22) c.419del (p.Gly140AlafsTer22) c.-227del (n.-227del) | gnomAD v4 COSMIC COSMIC |
1 | g.63629540G>A | CA340646168 | PGM1 | c.362G>A (p.Gly121Glu) c.416G>A (p.Gly139Glu) c.-230G>A (n.-230G>A) | |
1 | g.63629540G>C | CA340646163 | PGM1 | c.362G>C (p.Gly121Ala) c.416G>C (p.Gly139Ala) c.-230G>C (n.-230G>C) | |
1 | g.63629540G>T | CA340646165 | PGM1 | c.362G>T (p.Gly121Val) c.416G>T (p.Gly139Val) c.-230G>T (n.-230G>T) | |
1 | g.63629541G>A | CA418208003 | PGM1 | c.363G>A (p.Gly121=) c.417G>A (p.Gly139=) c.-229G>A (n.-229G>A) | dbSNP |
1 | g.63629541G>C | CA418208006 | PGM1 | c.363G>C (p.Gly121=) c.417G>C (p.Gly139=) c.-229G>C (n.-229G>C) | |
1 | g.63629541G= | CA1171571120 | PGM1 | c.363G= (p.Gly121=) c.417G= (p.Gly139=) c.-229G= (n.-229G=) | |
1 | g.63629541G>T | CA418208007 | PGM1 | c.363G>T (p.Gly121=) c.417G>T (p.Gly139=) c.-229G>T (n.-229G>T) | gnomAD v4 |
1 | g.63629542G>A | CA340646183 | PGM1 | c.364G>A (p.Gly122Ser) c.418G>A (p.Gly140Ser) c.-228G>A (n.-228G>A) | |
1 | g.63629542G>C | CA340646184 | PGM1 | c.364G>C (p.Gly122Arg) c.418G>C (p.Gly140Arg) c.-228G>C (n.-228G>C) | |
1 | g.63629542G= | CA1171571121 | PGM1 | c.364G= (p.Gly122=) c.418G= (p.Gly140=) c.-228G= (n.-228G=) | |
1 | g.63629542G>T | CA340646186 | PGM1 | c.364G>T (p.Gly122Cys) c.418G>T (p.Gly140Cys) c.-228G>T (n.-228G>T) | dbSNP gnomAD v4 |
1 | g.63629543G>A | CA340646198 | PGM1 | c.365G>A (p.Gly122Asp) c.419G>A (p.Gly140Asp) c.-227G>A (n.-227G>A) | |
1 | g.63629543G>C | CA340646201 | PGM1 | c.365G>C (p.Gly122Ala) c.419G>C (p.Gly140Ala) c.-227G>C (n.-227G>C) | |
1 | g.63629543G= | CA1171571122 | PGM1 | c.365G= (p.Gly122=) c.419G= (p.Gly140=) c.-227G= (n.-227G=) | |
1 | g.63629543G>T | CA340646204 | PGM1 | c.365G>T (p.Gly122Val) c.419G>T (p.Gly140Val) c.-227G>T (n.-227G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.63629544C>A | CA418208017 | PGM1 | c.366C>A (p.Gly122=) c.420C>A (p.Gly140=) c.-226C>A (n.-226C>A) | |
1 | g.63629544C= | CA1171571123 | PGM1 | c.366C= (p.Gly122=) c.420C= (p.Gly140=) c.-226C= (n.-226C=) | |
1 | g.63629544C>G | CA418208018 | PGM1 | c.366C>G (p.Gly122=) c.420C>G (p.Gly140=) c.-226C>G (n.-226C>G) |