| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64753125G>A | CA381175062 | PYGM | c.1466C>T (p.Pro489Leu) c.1202C>T (p.Pro401Leu) | gnomAD v4 |
| 11 | g.64753125G>C | CA222882 | PYGM | c.1466C>G (p.Pro489Arg) c.1202C>G (p.Pro401Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753125G= | CA1978920275 | PYGM | c.1466C= (p.Pro489=) c.1202C= (p.Pro401=) | |
| 11 | g.64753125G>T | CA381175056 | PYGM | c.1466C>A (p.Pro489His) c.1202C>A (p.Pro401His) | |
| 11 | g.64753128dup | CA10603264 | PYGM | c.1466dup (p.Arg490SerfsTer8) c.1202dup (p.Arg402SerfsTer8) | ClinVar dbSNP |
| 11 | g.64753126G>A | CA6079853 | PYGM | c.1465C>T (p.Pro489Ser) c.1201C>T (p.Pro401Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753126G>C | CA381175071 | PYGM | c.1465C>G (p.Pro489Ala) c.1201C>G (p.Pro401Ala) | |
| 11 | g.64753126G= | CA1978920282 | PYGM | c.1465C= (p.Pro489=) c.1201C= (p.Pro401=) | |
| 11 | g.64753126G>T | CA381175073 | PYGM | c.1465C>A (p.Pro489Thr) c.1201C>A (p.Pro401Thr) | gnomAD v4 |
| 11 | g.64753127G>A | CA474959160 | PYGM | c.1464C>T (p.Thr488=) c.1200C>T (p.Thr400=) | |
| 11 | g.64753127G>C | CA474959161 | PYGM | c.1464C>G (p.Thr488=) c.1200C>G (p.Thr400=) | |
| 11 | g.64753127G>T | CA474959162 | PYGM | c.1464C>A (p.Thr488=) c.1200C>A (p.Thr400=) | |
| 11 | g.64753128G>A | CA381175079 | PYGM | c.1463C>T (p.Thr488Ile) c.1199C>T (p.Thr400Ile) | ClinVar dbSNP |
| 11 | g.64753128G>C | CA381175082 | PYGM | c.1463C>G (p.Thr488Ser) c.1199C>G (p.Thr400Ser) | |
| 11 | g.64753128G= | CA1978920294 | PYGM | c.1463C= (p.Thr488=) c.1199C= (p.Thr400=) | |
| 11 | g.64753128G>T | CA381175087 | PYGM | c.1463C>A (p.Thr488Asn) c.1199C>A (p.Thr400Asn) | ClinVar dbSNP |
| 11 | g.64753129T>A | CA381175103 | PYGM | c.1462A>T (p.Thr488Ser) c.1198A>T (p.Thr400Ser) | |
| 11 | g.64753129T>C | CA381175107 | PYGM | c.1462A>G (p.Thr488Ala) c.1198A>G (p.Thr400Ala) | dbSNP |
| 11 | g.64753129T>G | CA381175109 | PYGM | c.1462A>C (p.Thr488Pro) c.1198A>C (p.Thr400Pro) | |
| 11 | g.64753129T= | CA1978920298 | PYGM | c.1462A= (p.Thr488=) c.1198A= (p.Thr400=) | |
| 11 | g.64753130G>A | CA474959164 | PYGM | c.1461C>T (p.Ile487=) c.1197C>T (p.Ile399=) | |
| 11 | g.64753130G>C | CA381175111 | PYGM | c.1461C>G (p.Ile487Met) c.1197C>G (p.Ile399Met) | |
| 11 | g.64753130G>T | CA474959163 | PYGM | c.1461C>A (p.Ile487=) c.1197C>A (p.Ile399=) | ClinVar |
| 11 | g.64753131A>C | CA381175121 | PYGM | c.1460T>G (p.Ile487Ser) c.1196T>G (p.Ile399Ser) | |
| 11 | g.64753131A>G | CA381175123 | PYGM | c.1460T>C (p.Ile487Thr) c.1196T>C (p.Ile399Thr) | |
| 11 | g.64753131A>T | CA381175115 | PYGM | c.1460T>A (p.Ile487Asn) c.1196T>A (p.Ile399Asn) | |
| 11 | g.64753132T>A | CA381175128 | PYGM | c.1459A>T (p.Ile487Phe) c.1195A>T (p.Ile399Phe) | |
| 11 | g.64753132T>C | CA381175129 | PYGM | c.1459A>G (p.Ile487Val) c.1195A>G (p.Ile399Val) | gnomAD v4 |
| 11 | g.64753132T>G | CA381175130 | PYGM | c.1459A>C (p.Ile487Leu) c.1195A>C (p.Ile399Leu) | |
| 11 | g.64753133G>A | CA474959165 | PYGM | c.1458C>T (p.Gly486=) c.1194C>T (p.Gly398=) | |
| 11 | g.64753133G>C | CA474959166 | PYGM | c.1458C>G (p.Gly486=) c.1194C>G (p.Gly398=) | ClinVar |
| 11 | g.64753133G>T | CA474959167 | PYGM | c.1458C>A (p.Gly486=) c.1194C>A (p.Gly398=) | |
| 11 | g.64753134C>A | CA381175131 | PYGM | c.1457G>T (p.Gly486Val) c.1193G>T (p.Gly398Val) | |
| 11 | g.64753134C>G | CA381175132 | PYGM | c.1457G>C (p.Gly486Ala) c.1193G>C (p.Gly398Ala) | |
| 11 | g.64753134C>T | CA381175134 | PYGM | c.1457G>A (p.Gly486Asp) c.1193G>A (p.Gly398Asp) | |
| 11 | g.64753135C>A | CA381175138 | PYGM | c.1456G>T (p.Gly486Cys) c.1192G>T (p.Gly398Cys) | |
| 11 | g.64753135C= | CA1978920310 | PYGM | c.1456G= (p.Gly486=) c.1192G= (p.Gly398=) | |
| 11 | g.64753135C>G | CA381175141 | PYGM | c.1456G>C (p.Gly486Arg) c.1192G>C (p.Gly398Arg) | |
| 11 | g.64753135C>T | CA223899899 | PYGM | c.1456G>A (p.Gly486Ser) c.1192G>A (p.Gly398Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64753136G>A | CA6079854 | PYGM | c.1455C>T (p.Asn485=) c.1191C>T (p.Asn397=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753136G>C | CA381175149 | PYGM | c.1455C>G (p.Asn485Lys) c.1191C>G (p.Asn397Lys) | |
| 11 | g.64753136G= | CA1978920314 | PYGM | c.1455C= (p.Asn485=) c.1191C= (p.Asn397=) | |
| 11 | g.64753136G>T | CA381175154 | PYGM | c.1455C>A (p.Asn485Lys) c.1191C>A (p.Asn397Lys) | |
| 11 | g.64753137T>A | CA381175160 | PYGM | c.1454A>T (p.Asn485Ile) c.1190A>T (p.Asn397Ile) | |
| 11 | g.64753137T>C | CA381175162 | PYGM | c.1454A>G (p.Asn485Ser) c.1190A>G (p.Asn397Ser) | |
| 11 | g.64753137T>G | CA381175158 | PYGM | c.1454A>C (p.Asn485Thr) c.1190A>C (p.Asn397Thr) | |
| 11 | g.64753138T>A | CA381175164 | PYGM | c.1453A>T (p.Asn485Tyr) c.1189A>T (p.Asn397Tyr) | |
| 11 | g.64753138T>C | CA381175169 | PYGM | c.1453A>G (p.Asn485Asp) c.1189A>G (p.Asn397Asp) | |
| 11 | g.64753138T>G | CA381175172 | PYGM | c.1453A>C (p.Asn485His) c.1189A>C (p.Asn397His) | |
| 11 | g.64753139G>A | CA474959168 | PYGM | c.1452C>T (p.Thr484=) c.1188C>T (p.Thr396=) |