| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.21558286G>C | CA126175 | GYS2 | c.1336C>G (p.His446Asp) c.*1338C>G (n.*1338C>G) n.1263C>G c.1117C>G (p.His373Asp) c.1105C>G (p.His369Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.21558286G>T | CA233602585 | GYS2 | c.1336C>A (p.His446Asn) c.*1338C>A (n.*1338C>A) n.1263C>A c.1117C>A (p.His373Asn) c.1105C>A (p.His369Asn) | dbSNP COSMIC |