| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108897145A>G | CA117813 | EDAR,RANBP2 | c.1109T>C (p.Val370Ala) c.1205T>C (p.Val402Ala) c.1256T>C (p.Val419Ala) c.1160T>C (p.Val387Ala) c.536T>C (p.Val179Ala) c.1349T>C (p.Val450Ala) c.1253T>C (p.Val418Ala) c.8370+124099A>G (n.8370+124099A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.108897145A>C | CA348048202 | EDAR,RANBP2 | c.1109T>G (p.Val370Gly) c.1205T>G (p.Val402Gly) c.1256T>G (p.Val419Gly) c.1160T>G (p.Val387Gly) c.536T>G (p.Val179Gly) c.1349T>G (p.Val450Gly) c.1253T>G (p.Val418Gly) c.8370+124099A>C (n.8370+124099A>C) | dbSNP |
| 2 | g.108897145A= | CA1278354296 | EDAR,RANBP2 | c.1109T= (p.Val370=) c.1205T= (p.Val402=) c.1256T= (p.Val419=) c.1160T= (p.Val387=) c.536T= (p.Val179=) c.1349T= (p.Val450=) c.1253T= (p.Val418=) c.8370+124099A= (n.8370+124099A=) | dbSNP |