| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108896995C>T | CA117810 | EDAR,RANBP2 | c.1259G>A (p.Arg420Gln) c.1355G>A (p.Arg452Gln) c.1406G>A (p.Arg469Gln) c.1310G>A (p.Arg437Gln) c.686G>A (p.Arg229Gln) c.1499G>A (p.Arg500Gln) c.1403G>A (p.Arg468Gln) c.8370+123949C>T (n.8370+123949C>T) | ClinVar dbSNP |
| 2 | g.108896995C= | CA1278354230 | EDAR,RANBP2 | c.1259G= (p.Arg420=) c.1355G= (p.Arg452=) c.1406G= (p.Arg469=) c.1310G= (p.Arg437=) c.686G= (p.Arg229=) c.1499G= (p.Arg500=) c.1403G= (p.Arg468=) c.8370+123949C= (n.8370+123949C=) | dbSNP |
| 2 | g.108896995C>G | CA348047750 | EDAR,RANBP2 | c.1259G>C (p.Arg420Pro) c.1355G>C (p.Arg452Pro) c.1406G>C (p.Arg469Pro) c.1310G>C (p.Arg437Pro) c.686G>C (p.Arg229Pro) c.1499G>C (p.Arg500Pro) c.1403G>C (p.Arg468Pro) c.8370+123949C>G (n.8370+123949C>G) | dbSNP |