| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49219344G>C | CA412965206 | CACNA1F | c.2650C>G (p.Arg884Gly) c.2488C>G (p.Arg830Gly) c.2683C>G (p.Arg895Gly) c.-84C>G (n.-84C>G) | dbSNP gnomAD v4 |
| X | g.49219344G>A | CA255942 | CACNA1F | c.2650C>T (p.Arg884Ter) c.2488C>T (p.Arg830Ter) c.2683C>T (p.Arg895Ter) c.-84C>T (n.-84C>T) | ClinVar dbSNP gnomAD v4 COSMIC |