| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63433851G>A | CA409651133 | KCNQ2 | c.1076C>T (p.Thr359Met) n.814C>T c.557C>T (p.Thr186Met) n.26C>T c.734C>T (p.Thr245Met) n.1202C>T n.427C>T c.220C>T c.549C>T (n.549C>T) c.950C>T (p.Thr317Met) c.1007C>T (p.Thr336Met) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63433851G>T | CA342462 | KCNQ2 | c.1076C>A (p.Thr359Lys) n.814C>A c.557C>A (p.Thr186Lys) n.26C>A c.734C>A (p.Thr245Lys) n.1202C>A n.427C>A c.220C>A c.549C>A (n.549C>A) c.950C>A (p.Thr317Lys) c.1007C>A (p.Thr336Lys) | ClinVar dbSNP |
| 20 | g.63433851G= | CA2374788909 | KCNQ2 | c.1076C= (p.Thr359=) n.814C= c.557C= (p.Thr186=) n.26C= c.734C= (p.Thr245=) n.1202C= n.427C= c.220C= c.549C= (n.549C=) c.950C= (p.Thr317=) c.1007C= (p.Thr336=) | dbSNP |