| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64758464C>T | CA381109682 | PYGM | c.397G>A (p.Gly133Ser) c.244-198G>A (n.244-198G>A) | ClinVar dbSNP |
| 11 | g.64758464C>A | CA381109674 | PYGM | c.397G>T (p.Gly133Cys) c.244-198G>T (n.244-198G>T) | dbSNP |
| 11 | g.64758464C= | CA1978928438 | PYGM | c.397G= (p.Gly133=) c.244-198G= (n.244-198G=) | dbSNP |