| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.108897133C>A | CA53464866 | EDAR,RANBP2 | c.1121G>T (p.Trp374Leu) c.1217G>T (p.Trp406Leu) c.1268G>T (p.Trp423Leu) c.1172G>T (p.Trp391Leu) c.548G>T (p.Trp183Leu) c.1361G>T (p.Trp454Leu) c.1265G>T (p.Trp422Leu) c.8370+124087C>A (n.8370+124087C>A) | dbSNP |
| 2 | g.108897133C>T | CA10588306 | EDAR,RANBP2 | c.1121G>A (p.Trp374Ter) c.1217G>A (p.Trp406Ter) c.1268G>A (p.Trp423Ter) c.1172G>A (p.Trp391Ter) c.548G>A (p.Trp183Ter) c.1361G>A (p.Trp454Ter) c.1265G>A (p.Trp422Ter) c.8370+124087C>T (n.8370+124087C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.108897133C= | CA1278354292 | EDAR,RANBP2 | c.1121G= (p.Trp374=) c.1217G= (p.Trp406=) c.1268G= (p.Trp423=) c.1172G= (p.Trp391=) c.548G= (p.Trp183=) c.1361G= (p.Trp454=) c.1265G= (p.Trp422=) c.8370+124087C= (n.8370+124087C=) | dbSNP |