| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64752071C>A | CA252211 | PYGM | c.1621G>T (p.Glu541Ter) c.1357G>T (p.Glu453Ter) | ClinVar dbSNP |
| 11 | g.64752071C>T | CA223899107 | PYGM | c.1621G>A (p.Glu541Lys) c.1357G>A (p.Glu453Lys) | dbSNP |
| 11 | g.64752071C= | CA1978918197 | PYGM | c.1621G= (p.Glu541=) c.1357G= (p.Glu453=) | dbSNP |