| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63438628G>C | CA315426 | KCNQ2 | c.1020C>G (p.Ile340Met) n.758C>G n.46C>G c.501C>G (p.Ile167Met) c.678C>G (p.Ile226Met) n.1146C>G c.385C>G c.164C>G c.493C>G (n.493C>G) c.894C>G (p.Ile298Met) c.951C>G (p.Ile317Met) | ClinVar dbSNP |
| 20 | g.63438628G>A | CA9958680 | KCNQ2 | c.1020C>T (p.Ile340=) n.758C>T n.46C>T c.501C>T (p.Ile167=) c.678C>T (p.Ile226=) n.1146C>T c.385C>T c.164C>T c.493C>T (n.493C>T) c.894C>T (p.Ile298=) c.951C>T (p.Ile317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |