| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38448398C>T | CA16043552 | RYR1 | c.844C>T (p.Arg282Trp) c.841C>T (p.Arg281Trp) n.927C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38448398C= | CA2335027579 | RYR1 | c.844C= (p.Arg282=) c.841C= (p.Arg281=) n.927C= | dbSNP |