| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21546466A>T | CA324545 | GYS2 | c.1427T>A (p.Ile476Asn) c.*1429T>A (n.*1429T>A) c.1208T>A (p.Ile403Asn) c.1196T>A (p.Ile399Asn) | ClinVar dbSNP gnomAD v4 |
| 12 | g.21546466A>G | CA384122817 | GYS2 | c.1427T>C (p.Ile476Thr) c.*1429T>C (n.*1429T>C) c.1208T>C (p.Ile403Thr) c.1196T>C (p.Ile399Thr) | dbSNP gnomAD v2 gnomAD v4 |