| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71791215G>A | CA253326 | CDH23 | c.6133G>A (p.Asp2045Asn) c.6148G>A (p.Asp2050Asn) c.6328G>A (p.Asp2110Asn) c.6262G>A (p.Asp2088Asn) c.6325G>A (p.Asp2109Asn) c.6322G>A (p.Asp2108Asn) c.6268G>A (p.Asp2090Asn) c.6193G>A (p.Asp2065Asn) c.5788G>A (p.Asp1930Asn) c.5146G>A (p.Asp1716Asn) c.2656G>A (p.Asp886Asn) n.6571G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71791215G= | CA1918871526 | CDH23 | c.6133G= (p.Asp2045=) c.6148G= (p.Asp2050=) c.6328G= (p.Asp2110=) c.6262G= (p.Asp2088=) c.6325G= (p.Asp2109=) c.6322G= (p.Asp2108=) c.6268G= (p.Asp2090=) c.6193G= (p.Asp2065=) c.5788G= (p.Asp1930=) c.5146G= (p.Asp1716=) c.2656G= (p.Asp886=) n.6571G= | dbSNP |