| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64757826C>T | CA339962 | PYGM | c.613G>A (p.Gly205Ser) c.349G>A (p.Gly117Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64757826C>A | CA381107645 | PYGM | c.613G>T (p.Gly205Cys) c.349G>T (p.Gly117Cys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64757826C= | CA1978927614 | PYGM | c.613G= (p.Gly205=) c.349G= (p.Gly117=) | dbSNP |