| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38499984G>T | CA024744 | RYR1 | c.7291G>T (p.Asp2431Tyr) c.7288G>T (p.Asp2430Tyr) c.743G>T n.7374G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.38499984G>A | CA024741 | RYR1 | c.7291G>A (p.Asp2431Asn) c.7288G>A (p.Asp2430Asn) c.743G>A n.7374G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38499984G= | CA2335053038 | RYR1 | c.7291G= (p.Asp2431=) c.7288G= (p.Asp2430=) c.743G= n.7374G= | dbSNP |