Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.26501147G>A | CA402240220 | KCTD1 | c.1913C>T (p.Ala638Val) c.89C>T (p.Ala30Val) c.113C>T (p.Ala38Val) n.2261C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
18 | g.26501147G>T | CA143987 | KCTD1 | c.1913C>A (p.Ala638Glu) c.89C>A (p.Ala30Glu) c.113C>A (p.Ala38Glu) n.2261C>A | ClinVar dbSNP |