| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71615573G>C | CA377121462 | CDH23 | c.902G>C (p.Arg301Pro) c.273G>C n.678G>C c.566G>C (p.Arg189Pro) c.917G>C (p.Arg306Pro) c.653G>C (p.Arg218Pro) c.1037G>C (p.Arg346Pro) c.497G>C (p.Arg166Pro) n.1280G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71615573G>A | CA239352 | CDH23 | c.902G>A (p.Arg301Gln) c.273G>A n.678G>A c.566G>A (p.Arg189Gln) c.917G>A (p.Arg306Gln) c.653G>A (p.Arg218Gln) c.1037G>A (p.Arg346Gln) c.497G>A (p.Arg166Gln) n.1280G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |