| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.50576292C>G | CA16620479 | CACNA1G | c.1890C>G (p.Ser630Arg) n.2282C>G c.1839C>G (p.Ser613Arg) n.2635C>G | ClinVar dbSNP |
| 17 | g.50576292C= | CA2264092909 | CACNA1G | c.1890C= (p.Ser630=) n.2282C= c.1839C= (p.Ser613=) n.2635C= | dbSNP |