| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38442361G>A | CA024309 | RYR1 | c.178G>A (p.Asp60Asn) n.261G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38442361G>C | CA405673701 | RYR1 | c.178G>C (p.Asp60His) n.261G>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.38442361G>T | CA405673698 | RYR1 | c.178G>T (p.Asp60Tyr) n.261G>T | ClinVar dbSNP |