| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439692A>G | CA409652725 | KCNQ2 | c.833T>C (p.Ile278Thr) n.571T>C c.314T>C (p.Ile105Thr) c.491T>C (p.Ile164Thr) n.959T>C c.198T>C c.336T>C (p.His112=) n.658T>C c.707T>C (p.Ile236Thr) c.764T>C (p.Ile255Thr) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63439692A>T | CA16609051 | KCNQ2 | c.833T>A (p.Ile278Asn) n.571T>A c.314T>A (p.Ile105Asn) c.491T>A (p.Ile164Asn) n.959T>A c.198T>A c.336T>A (p.His112Gln) n.658T>A c.707T>A (p.Ile236Asn) c.764T>A (p.Ile255Asn) | ClinVar dbSNP |