| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.50911799C>A | CA7183293 | PYGL | c.1900G>T (p.Asp634Tyr) n.73G>T c.1798G>T (p.Asp600Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50911799C>G | CA240710 | PYGL | c.1900G>C (p.Asp634His) n.73G>C c.1798G>C (p.Asp600His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 14 | g.50911799C= | CA2136416511 | PYGL | c.1900G= (p.Asp634=) n.73G= c.1798G= (p.Asp600=) | dbSNP |