| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21560468T>C | CA6479989 | GYS2 | c.1087A>G (p.Met363Val) c.*1089A>G (n.*1089A>G) n.1014A>G c.868A>G (p.Met290Val) c.856A>G (p.Met286Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21560468T>A | CA384130909 | GYS2 | c.1087A>T (p.Met363Leu) c.*1089A>T (n.*1089A>T) n.1014A>T c.868A>T (p.Met290Leu) c.856A>T (p.Met286Leu) | dbSNP gnomAD v4 |