| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71566790G>A | CA16044278 | CDH23 | c.478G>A (p.Asp160Asn) n.254G>A c.142G>A (p.Asp48Asn) c.493G>A (p.Asp165Asn) c.301G>A (p.Asp101Asn) c.613G>A (p.Asp205Asn) c.73G>A (p.Asp25Asn) n.162-1656C>T n.856G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 10 | g.71566790G>C | CA377111841 | CDH23 | c.478G>C (p.Asp160His) n.254G>C c.142G>C (p.Asp48His) c.493G>C (p.Asp165His) c.301G>C (p.Asp101His) c.613G>C (p.Asp205His) c.73G>C (p.Asp25His) n.162-1656C>G n.856G>C | dbSNP |
| 10 | g.71566790G= | CA1918765838 | CDH23 | c.478G= (p.Asp160=) n.254G= c.142G= (p.Asp48=) c.493G= (p.Asp165=) c.301G= (p.Asp101=) c.613G= (p.Asp205=) c.73G= (p.Asp25=) n.162-1656C= n.856G= | dbSNP dbSNP |