| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71793370G>A | CA253332 | CDH23 | c.6442G>A (p.Asp2148Asn) c.6457G>A (p.Asp2153Asn) c.6637G>A (p.Asp2213Asn) c.6571G>A (p.Asp2191Asn) c.6634G>A (p.Asp2212Asn) c.6631G>A (p.Asp2211Asn) c.6577G>A (p.Asp2193Asn) c.6578-31G>A (n.6578-31G>A) c.6502G>A (p.Asp2168Asn) c.6097G>A (p.Asp2033Asn) c.5455G>A (p.Asp1819Asn) c.2965G>A (p.Asp989Asn) n.6880G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71793370G= | CA1918874336 | CDH23 | c.6442G= (p.Asp2148=) c.6457G= (p.Asp2153=) c.6637G= (p.Asp2213=) c.6571G= (p.Asp2191=) c.6634G= (p.Asp2212=) c.6631G= (p.Asp2211=) c.6577G= (p.Asp2193=) c.6578-31G= (n.6578-31G=) c.6502G= (p.Asp2168=) c.6097G= (p.Asp2033=) c.5455G= (p.Asp1819=) c.2965G= (p.Asp989=) n.6880G= | dbSNP |