| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439698G>T | CA409652747 | KCNQ2 | c.827C>A (p.Thr276Asn) n.565C>A c.308C>A (p.Thr103Asn) c.485C>A (p.Thr162Asn) n.953C>A c.192C>A c.330C>A (p.Asp110Glu) n.652C>A c.701C>A (p.Thr234Asn) c.758C>A (p.Thr253Asn) | ClinVar dbSNP |
| 20 | g.63439698G>A | CA10654815 | KCNQ2 | c.827C>T (p.Thr276Ile) n.565C>T c.308C>T (p.Thr103Ile) c.485C>T (p.Thr162Ile) n.953C>T c.192C>T c.330C>T (p.Asp110=) n.652C>T c.701C>T (p.Thr234Ile) c.758C>T (p.Thr253Ile) | ClinVar dbSNP |