| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21574248G>T | CA6480143 | GYS2 | c.574C>A (p.Arg192=) c.*576C>A (n.*576C>A) n.501C>A c.355C>A (p.Arg119=) c.343C>A (p.Arg115=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.21574248G>A | CA320662 | GYS2 | c.574C>T (p.Arg192Ter) c.*576C>T (n.*576C>T) n.501C>T c.355C>T (p.Arg119Ter) c.343C>T (p.Arg115Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |