| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.5046497A>T | CA10642613 | KCNA5 | c.*508A>T (n.*508A>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.5046497A>G | CA689648212 | KCNA5 | c.*508A>G (n.*508A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.5046497A= | CA1630855461 | KCNA5 | c.*508A= (n.*508A=) | dbSNP |