| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237784085G>A | CA085176 | RYR2 | c.*3465G>A (n.*3465G>A) c.12361G>A (p.Val4121Ile) c.12394G>A (p.Val4132Ile) c.4550G>A c.12373G>A (p.Val4125Ile) c.2426G>A c.12325G>A (p.Val4109Ile) n.3568G>A c.12427G>A (p.Val4143Ile) c.12424G>A (p.Val4142Ile) c.12403G>A (p.Val4135Ile) c.12397G>A (p.Val4133Ile) c.12391G>A (p.Val4131Ile) c.12367G>A (p.Val4123Ile) c.12190G>A (p.Val4064Ile) c.12334G>A (p.Val4112Ile) c.12406G>A (p.Val4136Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.237784085G>T | CA007493 | RYR2 | c.*3465G>T (n.*3465G>T) c.12361G>T (p.Val4121Phe) c.12394G>T (p.Val4132Phe) c.4550G>T c.12373G>T (p.Val4125Phe) c.2426G>T c.12325G>T (p.Val4109Phe) n.3568G>T c.12427G>T (p.Val4143Phe) c.12424G>T (p.Val4142Phe) c.12403G>T (p.Val4135Phe) c.12397G>T (p.Val4133Phe) c.12391G>T (p.Val4131Phe) c.12367G>T (p.Val4123Phe) c.12190G>T (p.Val4064Phe) c.12334G>T (p.Val4112Phe) c.12406G>T (p.Val4136Phe) | ClinVar dbSNP COSMIC COSMIC |