| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580395C>T | CA024167 | RYR1 | c.1473C>T c.2870C>T c.2842C>T c.14537C>T (p.Ala4846Val) c.14522C>T (p.Ala4841Val) c.14519C>T (p.Ala4840Val) c.14504C>T (p.Ala4835Val) c.14534C>T (p.Ala4845Val) c.14450C>T (p.Ala4817Val) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38580395C>G | CA061378 | RYR1 | c.1473C>G c.2870C>G c.2842C>G c.14537C>G (p.Ala4846Gly) c.14522C>G (p.Ala4841Gly) c.14519C>G (p.Ala4840Gly) c.14504C>G (p.Ala4835Gly) c.14534C>G (p.Ala4845Gly) c.14450C>G (p.Ala4817Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |