| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64752064T>G | CA339963 | PYGM | c.1628A>C (p.Lys543Thr) c.1364A>C (p.Lys455Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64752064T>C | CA381171344 | PYGM | c.1628A>G (p.Lys543Arg) c.1364A>G (p.Lys455Arg) | dbSNP |
| 11 | g.64752064T= | CA1978918161 | PYGM | c.1628A= (p.Lys543=) c.1364A= (p.Lys455=) | dbSNP |
| 11 | g.64752064T>A | CA381171341 | PYGM | c.1628A>T (p.Lys543Met) c.1364A>T (p.Lys455Met) | dbSNP |