| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.49215380C>A | CA16043326 | CACNA1F | c.3400G>T (p.Glu1134Ter) c.3238G>T (p.Glu1080Ter) c.3433G>T (p.Glu1145Ter) c.667G>T (p.Glu223Ter) | ClinVar dbSNP |
| X | g.49215380C>T | CA10410464 | CACNA1F | c.3400G>A (p.Glu1134Lys) c.3238G>A (p.Glu1080Lys) c.3433G>A (p.Glu1145Lys) c.667G>A (p.Glu223Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |