| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.4912619T>G | CA341653 | KCNA1 | c.1241T>G (p.Phe414Cys) n.105+2147T>G c.1079T>G (p.Phe360Cys) c.76+353T>G n.96+2147T>G | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.4912619T>C | CA383456344 | KCNA1 | c.1241T>C (p.Phe414Ser) n.105+2147T>C c.1079T>C (p.Phe360Ser) c.76+353T>C n.96+2147T>C | ClinVar dbSNP gnomAD v4 |
| 12 | g.4912619T= | CA2013367930 | KCNA1 | c.1241T= (p.Phe414=) n.105+2147T= c.1079T= (p.Phe360=) c.76+353T= n.96+2147T= | dbSNP |