| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63415046T>G | CA10654790 | KCNQ2 | c.1328A>C (p.Gln443Pro) c.1382A>C (p.Gln461Pro) c.779A>C (p.Gln260Pro) c.1292A>C (p.Gln431Pro) c.950A>C (p.Gln317Pro) c.1298A>C (p.Gln433Pro) c.1262A>C (p.Gln421Pro) c.442A>C c.1352A>C (p.Gln451Pro) c.1256A>C (p.Gln419Pro) c.863A>C (p.Gln288Pro) c.1259A>C (p.Gln420Pro) c.290A>C (p.Gln97Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63415046T= | CA2374778825 | KCNQ2 | c.1328A= (p.Gln443=) c.1382A= (p.Gln461=) c.779A= (p.Gln260=) c.1292A= (p.Gln431=) c.950A= (p.Gln317=) c.1298A= (p.Gln433=) c.1262A= (p.Gln421=) c.442A= c.1352A= (p.Gln451=) c.1256A= (p.Gln419=) c.863A= (p.Gln288=) c.1259A= (p.Gln420=) c.290A= (p.Gln97=) | dbSNP |