| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64753556C>G | CA381175738 | PYGM | c.1366G>C (p.Val456Leu) c.1102G>C (p.Val368Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.64753556C>T | CA222880 | PYGM | c.1366G>A (p.Val456Met) c.1102G>A (p.Val368Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753556C= | CA1978921160 | PYGM | c.1366G= (p.Val456=) c.1102G= (p.Val368=) | dbSNP |