| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71732151C>T | CA253330 | C10orf105,CDH23 | c.3880C>T (p.Gln1294Ter) c.3877C>T (p.Gln1293Ter) c.3895C>T (p.Gln1299Ter) c.-6+5577G>A (n.-6+5577G>A) n.572C>T c.4075C>T (p.Gln1359Ter) c.4009C>T (p.Gln1337Ter) c.4069C>T (p.Gln1357Ter) c.4015C>T (p.Gln1339Ter) c.3940C>T (p.Gln1314Ter) c.3535C>T (p.Gln1179Ter) c.2893C>T (p.Gln965Ter) c.403C>T (p.Gln135Ter) n.4318C>T | ClinVar dbSNP gnomAD v4 |
| 10 | g.71732151C= | CA1918849692 | C10orf105,CDH23 | c.3880C= (p.Gln1294=) c.3877C= (p.Gln1293=) c.3895C= (p.Gln1299=) c.-6+5577G= (n.-6+5577G=) n.572C= c.4075C= (p.Gln1359=) c.4009C= (p.Gln1337=) c.4069C= (p.Gln1357=) c.4015C= (p.Gln1339=) c.3940C= (p.Gln1314=) c.3535C= (p.Gln1179=) c.2893C= (p.Gln965=) c.403C= (p.Gln135=) n.4318C= | dbSNP |