| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38451850C>T | CA507242431 | RYR1 | c.1209C>T (p.Ile403=) c.1206C>T (p.Ile402=) n.1292C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38451850C>G | CA023968 | RYR1 | c.1209C>G (p.Ile403Met) c.1206C>G (p.Ile402Met) n.1292C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38451850C= | CA2335029567 | RYR1 | c.1209C= (p.Ile403=) c.1206C= (p.Ile402=) n.1292C= | dbSNP |