| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580403G>A | CA024171 | RYR1 | c.1481G>A c.2878G>A c.2850G>A c.14545G>A (p.Val4849Ile) c.14530G>A (p.Val4844Ile) c.14527G>A (p.Val4843Ile) c.14512G>A (p.Val4838Ile) c.14542G>A (p.Val4848Ile) c.14458G>A (p.Val4820Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38580403G>T | CA405687657 | RYR1 | c.1481G>T c.2878G>T c.2850G>T c.14545G>T (p.Val4849Phe) c.14530G>T (p.Val4844Phe) c.14527G>T (p.Val4843Phe) c.14512G>T (p.Val4838Phe) c.14542G>T (p.Val4848Phe) c.14458G>T (p.Val4820Phe) | ClinVar dbSNP COSMIC |
| 19 | g.38580403G= | CA2335092460 | RYR1 | c.1481G= c.2878G= c.2850G= c.14545G= (p.Val4849=) c.14530G= (p.Val4844=) c.14527G= (p.Val4843=) c.14512G= (p.Val4838=) c.14542G= (p.Val4848=) c.14458G= (p.Val4820=) | dbSNP |