| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63433878T>C | CA9958649 | KCNQ2 | c.1049A>G (p.Asn350Ser) n.787A>G c.530A>G (p.Asn177Ser) c.707A>G (p.Asn236Ser) n.1175A>G n.400A>G c.193A>G c.522A>G (n.522A>G) c.923A>G (p.Asn308Ser) c.980A>G (p.Asn327Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.63433878T>A | CA315428 | KCNQ2 | c.1049A>T (p.Asn350Ile) n.787A>T c.530A>T (p.Asn177Ile) c.707A>T (p.Asn236Ile) n.1175A>T n.400A>T c.193A>T c.522A>T (n.522A>T) c.923A>T (p.Asn308Ile) c.980A>T (p.Asn327Ile) | ClinVar dbSNP gnomAD v4 |