| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.50910030T>G | CA341918 | PYGL | c.2042A>C (p.Lys681Thr) n.215A>C c.1940A>C (p.Lys647Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.50910030T= | CA2136415028 | PYGL | c.2042A= (p.Lys681=) n.215A= c.1940A= (p.Lys647=) | dbSNP |
| 14 | g.50910030T>C | CA389682524 | PYGL | c.2042A>G (p.Lys681Arg) n.215A>G c.1940A>G (p.Lys647Arg) | ClinVar dbSNP |