| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63439652C>A | CA16044333 | KCNQ2 | c.873G>T (p.Arg291Ser) n.611G>T c.354G>T (p.Arg118Ser) c.531G>T (p.Arg177Ser) n.999G>T c.238G>T c.17G>T c.376G>T (p.Ala126Ser) n.698G>T c.747G>T (p.Arg249Ser) c.804G>T (p.Arg268Ser) | ClinVar dbSNP |
| 20 | g.63439652C>G | CA409652601 | KCNQ2 | c.873G>C (p.Arg291Ser) n.611G>C c.354G>C (p.Arg118Ser) c.531G>C (p.Arg177Ser) n.999G>C c.238G>C c.17G>C c.376G>C (p.Ala126Pro) n.698G>C c.747G>C (p.Arg249Ser) c.804G>C (p.Arg268Ser) | ClinVar dbSNP |
| 20 | g.63439652C= | CA2374791954 | KCNQ2 | c.873G= (p.Arg291=) n.611G= c.354G= (p.Arg118=) c.531G= (p.Arg177=) n.999G= c.238G= c.17G= c.376G= (p.Ala126=) n.698G= c.747G= (p.Arg249=) c.804G= (p.Arg268=) | dbSNP |
| 20 | g.63439652C>T | CA409652602 | KCNQ2 | c.873G>A (p.Arg291=) n.611G>A c.354G>A (p.Arg118=) c.531G>A (p.Arg177=) n.999G>A c.238G>A c.17G>A c.376G>A (p.Ala126Thr) n.698G>A c.747G>A (p.Arg249=) c.804G>A (p.Arg268=) | dbSNP gnomAD v4 COSMIC |