| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64746796A>T | CA6079524 | PYGM | c.2392T>A (p.Trp798Arg) c.2128T>A (p.Trp710Arg) n.1745T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64746796A>G | CA222889 | PYGM | c.2392T>C (p.Trp798Arg) c.2128T>C (p.Trp710Arg) n.1745T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64746796A= | CA1978918133 | PYGM | c.2392T= (p.Trp798=) c.2128T= (p.Trp710=) n.1745T= | dbSNP |