| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71730517C>T | CA261778 | C10orf105,CDH23 | c.3628C>T (p.Gln1210Ter) c.3625C>T (p.Gln1209Ter) c.3643C>T (p.Gln1215Ter) c.-6+7211G>A (n.-6+7211G>A) n.320C>T c.3823C>T (p.Gln1275Ter) c.3757C>T (p.Gln1253Ter) c.3817C>T (p.Gln1273Ter) c.3763C>T (p.Gln1255Ter) c.3688C>T (p.Gln1230Ter) c.3283C>T (p.Gln1095Ter) c.2641C>T (p.Gln881Ter) c.151C>T (p.Gln51Ter) n.4066C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71730517C= | CA1918848910 | C10orf105,CDH23 | c.3628C= (p.Gln1210=) c.3625C= (p.Gln1209=) c.3643C= (p.Gln1215=) c.-6+7211G= (n.-6+7211G=) n.320C= c.3823C= (p.Gln1275=) c.3757C= (p.Gln1253=) c.3817C= (p.Gln1273=) c.3763C= (p.Gln1255=) c.3688C= (p.Gln1230=) c.3283C= (p.Gln1095=) c.2641C= (p.Gln881=) c.151C= (p.Gln51=) n.4066C= | dbSNP |