| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64751966G>A | CA252206 | PYGM | c.1726C>T (p.Arg576Ter) c.1462C>T (p.Arg488Ter) n.50C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.64751966G= | CA1978917867 | PYGM | c.1726C= (p.Arg576=) c.1462C= (p.Arg488=) n.50C= | dbSNP |
| 11 | g.64751966G>T | CA474959000 | PYGM | c.1726C>A (p.Arg576=) c.1462C>A (p.Arg488=) n.50C>A | ClinVar dbSNP |