| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64746660C>A | CA16041492 | PYGM | c.2528G>T (p.Ter843Leu) c.2264G>T (p.Ter755Leu) n.1881G>T | ClinVar dbSNP |
| 11 | g.64746660C= | CA1978917722 | PYGM | c.2528G= (p.Ter843=) c.2264G= (p.Ter755=) n.1881G= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64746660C>A | CA16041492 | PYGM | c.2528G>T (p.Ter843Leu) c.2264G>T (p.Ter755Leu) n.1881G>T | ClinVar dbSNP |
| 11 | g.64746660C= | CA1978917722 | PYGM | c.2528G= (p.Ter843=) c.2264G= (p.Ter755=) n.1881G= | dbSNP |