| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64759898T>C | CA252209 | PYGM | c.1A>G (p.Met1Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.64759898T>G | CA270754 | PYGM | c.1A>C (p.Met1Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.64759898T>A | CA381113509 | PYGM | c.1A>T (p.Met1Leu) | ClinVar dbSNP |
| 11 | g.64759898T= | CA1978930096 | PYGM | c.1A= (p.Met1=) | dbSNP |