| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63433852T>C | CA16620967 | KCNQ2 | c.1075A>G (p.Thr359Ala) n.813A>G c.556A>G (p.Thr186Ala) n.25A>G c.733A>G (p.Thr245Ala) n.1201A>G n.426A>G c.219A>G c.548A>G (n.548A>G) c.949A>G (p.Thr317Ala) c.1006A>G (p.Thr336Ala) | ClinVar dbSNP |
| 20 | g.63433852T= | CA2374788910 | KCNQ2 | c.1075A= (p.Thr359=) n.813A= c.556A= (p.Thr186=) n.25A= c.733A= (p.Thr245=) n.1201A= n.426A= c.219A= c.548A= (n.548A=) c.949A= (p.Thr317=) c.1006A= (p.Thr336=) | dbSNP |