| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63442482G>C | CA130021 | KCNQ2 | c.740C>G (p.Ser247Trp) n.478C>G c.221C>G (p.Ser74Trp) n.120C>G c.398C>G (p.Ser133Trp) n.866C>G c.105C>G c.161C>G (p.Ser54Trp) n.565C>G c.690+2177C>G (n.690+2177C>G) c.671C>G (p.Ser224Trp) | ClinVar dbSNP |
| 20 | g.63442482G>A | CA315383 | KCNQ2 | c.740C>T (p.Ser247Leu) n.478C>T c.221C>T (p.Ser74Leu) n.120C>T c.398C>T (p.Ser133Leu) n.866C>T c.105C>T c.161C>T (p.Ser54Leu) n.565C>T c.690+2177C>T (n.690+2177C>T) c.671C>T (p.Ser224Leu) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63442482G>T | CA342525 | KCNQ2 | c.740C>A (p.Ser247Ter) n.478C>A c.221C>A (p.Ser74Ter) n.120C>A c.398C>A (p.Ser133Ter) n.866C>A c.105C>A c.161C>A (p.Ser54Ter) n.565C>A c.690+2177C>A (n.690+2177C>A) c.671C>A (p.Ser224Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |