| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38473412del | CA632869268 | RYR1 | c.3801del (p.Cys1268AlafsTer4) c.3798del (p.Cys1267AlafsTer4) n.3884del | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38473412dup | CA233323 | RYR1 | c.3801dup (p.Cys1268LeufsTer?) c.3798dup (p.Cys1267LeufsTer?) n.3884dup | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |