| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439665G>T | CA10654812 | KCNQ2 | c.860C>A (p.Thr287Asn) n.598C>A c.341C>A (p.Thr114Asn) c.518C>A (p.Thr173Asn) n.986C>A c.225C>A c.4C>A c.363C>A (p.Asp121Glu) n.685C>A c.734C>A (p.Thr245Asn) c.791C>A (p.Thr264Asn) | ClinVar dbSNP |
| 20 | g.63439665G>A | CA234149 | KCNQ2 | c.860C>T (p.Thr287Ile) n.598C>T c.341C>T (p.Thr114Ile) c.518C>T (p.Thr173Ile) n.986C>T c.225C>T c.4C>T c.363C>T (p.Asp121=) n.685C>T c.734C>T (p.Thr245Ile) c.791C>T (p.Thr264Ile) | ClinVar dbSNP |