| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38586140C>T | CA024276 | RYR1 | c.1854C>T c.3251C>T c.3223C>T n.311C>T c.14918C>T (p.Pro4973Leu) c.14903C>T (p.Pro4968Leu) c.14900C>T (p.Pro4967Leu) c.14885C>T (p.Pro4962Leu) c.14915C>T (p.Pro4972Leu) c.14831C>T (p.Pro4944Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38586140C= | CA2335095571 | RYR1 | c.1854C= c.3251C= c.3223C= n.311C= c.14918C= (p.Pro4973=) c.14903C= (p.Pro4968=) c.14900C= (p.Pro4967=) c.14885C= (p.Pro4962=) c.14915C= (p.Pro4972=) c.14831C= (p.Pro4944=) | dbSNP |