| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38580370C>G | CA024163 | RYR1 | c.1448C>G c.2845C>G c.2817C>G c.14512C>G (p.Leu4838Val) c.14497C>G (p.Leu4833Val) c.14494C>G (p.Leu4832Val) c.14479C>G (p.Leu4827Val) c.14509C>G (p.Leu4837Val) c.14425C>G (p.Leu4809Val) | ClinVar dbSNP |
| 19 | g.38580370C= | CA2335092440 | RYR1 | c.1448C= c.2845C= c.2817C= c.14512C= (p.Leu4838=) c.14497C= (p.Leu4833=) c.14494C= (p.Leu4832=) c.14479C= (p.Leu4827=) c.14509C= (p.Leu4837=) c.14425C= (p.Leu4809=) | dbSNP |