| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.50915373C>T | CA341906 | PYGL | c.1366G>A (p.Val456Met) n.243G>A c.1264G>A (p.Val422Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50915373C>G | CA389687554 | PYGL | c.1366G>C (p.Val456Leu) n.243G>C c.1264G>C (p.Val422Leu) | dbSNP |
| 14 | g.50915373C= | CA2136419136 | PYGL | c.1366G= (p.Val456=) n.243G= c.1264G= (p.Val422=) | dbSNP |