| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63444699G>T | CA10654821 | KCNQ2 | c.650C>A (p.Thr217Asn) n.388C>A n.44C>A c.131C>A (p.Thr44Asn) c.308C>A (p.Thr103Asn) n.776C>A n.492C>A c.15C>A c.71C>A (p.Thr24Asn) n.475C>A c.581C>A (p.Thr194Asn) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63444699G= | CA2374795894 | KCNQ2 | c.650C= (p.Thr217=) n.388C= n.44C= c.131C= (p.Thr44=) c.308C= (p.Thr103=) n.776C= n.492C= c.15C= c.71C= (p.Thr24=) n.475C= c.581C= (p.Thr194=) | dbSNP |
| 20 | g.63444699G>A | CA409654718 | KCNQ2 | c.650C>T (p.Thr217Ile) n.388C>T n.44C>T c.131C>T (p.Thr44Ile) c.308C>T (p.Thr103Ile) n.776C>T n.492C>T c.15C>T c.71C>T (p.Thr24Ile) n.475C>T c.581C>T (p.Thr194Ile) | ClinVar dbSNP |