| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108897182G>A | CA117808 | EDAR,RANBP2 | c.1072C>T (p.Arg358Ter) c.1168C>T (p.Arg390Ter) c.1219C>T (p.Arg407Ter) c.1123C>T (p.Arg375Ter) c.499C>T (p.Arg167Ter) c.1312C>T (p.Arg438Ter) c.1216C>T (p.Arg406Ter) c.8370+124136G>A (n.8370+124136G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 2 | g.108897182G>C | CA348048372 | EDAR,RANBP2 | c.1072C>G (p.Arg358Gly) c.1168C>G (p.Arg390Gly) c.1219C>G (p.Arg407Gly) c.1123C>G (p.Arg375Gly) c.499C>G (p.Arg167Gly) c.1312C>G (p.Arg438Gly) c.1216C>G (p.Arg406Gly) c.8370+124136G>C (n.8370+124136G>C) | dbSNP |
| 2 | g.108897182G= | CA1278354315 | EDAR,RANBP2 | c.1072C= (p.Arg358=) c.1168C= (p.Arg390=) c.1219C= (p.Arg407=) c.1123C= (p.Arg375=) c.499C= (p.Arg167=) c.1312C= (p.Arg438=) c.1216C= (p.Arg406=) c.8370+124136G= (n.8370+124136G=) | dbSNP |