| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63442428G>C | CA409653396 | KCNQ2 | c.794C>G (p.Ala265Gly) n.532C>G c.275C>G (p.Ala92Gly) c.452C>G (p.Ala151Gly) n.920C>G c.159C>G c.215C>G (p.Ala72Gly) n.619C>G c.690+2231C>G (n.690+2231C>G) c.725C>G (p.Ala242Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.63442428G>A | CA150769 | KCNQ2 | c.794C>T (p.Ala265Val) n.532C>T c.275C>T (p.Ala92Val) c.452C>T (p.Ala151Val) n.920C>T c.159C>T c.215C>T (p.Ala72Val) n.619C>T c.690+2231C>T (n.690+2231C>T) c.725C>T (p.Ala242Val) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |