| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.50915869G>C | CA389688500 | PYGL | c.1195C>G (p.Arg399Gly) n.72C>G c.1093C>G (p.Arg365Gly) | ClinVar dbSNP |
| 14 | g.50915869G>A | CA341904 | PYGL | c.1195C>T (p.Arg399Ter) n.72C>T c.1093C>T (p.Arg365Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50915869G= | CA2136419350 | PYGL | c.1195C= (p.Arg399=) n.72C= c.1093C= (p.Arg365=) | dbSNP |