| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.50915933G>C | CA341171 | PYGL | c.1131C>G (p.Asn377Lys) n.8C>G c.1029C>G (p.Asn343Lys) | ClinVar dbSNP gnomAD v4 |
| 14 | g.50915933G>T | CA389688739 | PYGL | c.1131C>A (p.Asn377Lys) n.8C>A c.1029C>A (p.Asn343Lys) | dbSNP gnomAD v4 |
| 14 | g.50915933G>A | CA486383328 | PYGL | c.1131C>T (p.Asn377=) n.8C>T c.1029C>T (p.Asn343=) | dbSNP gnomAD v4 |
| 14 | g.50915933G= | CA2136419380 | PYGL | c.1131C= (p.Asn377=) n.8C= c.1029C= (p.Asn343=) | dbSNP |