| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38543821C>T | CA507242642 | RYR1 | c.368C>T c.350C>T c.11958C>T (p.Asp3986=) c.11943C>T (p.Asp3981=) c.11940C>T (p.Asp3980=) c.567C>T c.5327C>T c.11925C>T (p.Asp3975=) c.11955C>T (p.Asp3985=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38543821C>G | CA023951 | RYR1 | c.368C>G c.350C>G c.11958C>G (p.Asp3986Glu) c.11943C>G (p.Asp3981Glu) c.11940C>G (p.Asp3980Glu) c.567C>G c.5327C>G c.11925C>G (p.Asp3975Glu) c.11955C>G (p.Asp3985Glu) | ClinVar dbSNP gnomAD v4 |