| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108897181C>T | CA10588307 | EDAR,RANBP2 | c.1073G>A (p.Arg358Gln) c.1169G>A (p.Arg390Gln) c.1220G>A (p.Arg407Gln) c.1124G>A (p.Arg375Gln) c.500G>A (p.Arg167Gln) c.1313G>A (p.Arg438Gln) c.1217G>A (p.Arg406Gln) c.8370+124135C>T (n.8370+124135C>T) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 2 | g.108897181C= | CA1278354314 | EDAR,RANBP2 | c.1073G= (p.Arg358=) c.1169G= (p.Arg390=) c.1220G= (p.Arg407=) c.1124G= (p.Arg375=) c.500G= (p.Arg167=) c.1313G= (p.Arg438=) c.1217G= (p.Arg406=) c.8370+124135C= (n.8370+124135C=) | dbSNP |