| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21546421A>C | CA126172 | GYS2 | c.1472T>G (p.Met491Arg) c.*1474T>G (n.*1474T>G) c.1253T>G (p.Met418Arg) c.1241T>G (p.Met414Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.21546421A>G | CA384122522 | GYS2 | c.1472T>C (p.Met491Thr) c.*1474T>C (n.*1474T>C) c.1253T>C (p.Met418Thr) c.1241T>C (p.Met414Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |