| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71709169C>A | CA209462174 | CDH23 | c.3178C>A (p.Arg1060=) c.2609C>A c.3193C>A (p.Arg1065=) c.1953C>A c.3373C>A (p.Arg1125=) c.3307C>A (p.Arg1103=) c.3367C>A (p.Arg1123=) c.3313C>A (p.Arg1105=) c.3238C>A (p.Arg1080=) c.2833C>A (p.Arg945=) c.2191C>A (p.Arg731=) n.3616C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.71709169C>T | CA5544502 | CDH23 | c.3178C>T (p.Arg1060Trp) c.2609C>T c.3193C>T (p.Arg1065Trp) c.1953C>T c.3373C>T (p.Arg1125Trp) c.3307C>T (p.Arg1103Trp) c.3367C>T (p.Arg1123Trp) c.3313C>T (p.Arg1105Trp) c.3238C>T (p.Arg1080Trp) c.2833C>T (p.Arg945Trp) c.2191C>T (p.Arg731Trp) n.3616C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.71709169C>G | CA377143320 | CDH23 | c.3178C>G (p.Arg1060Gly) c.2609C>G c.3193C>G (p.Arg1065Gly) c.1953C>G c.3373C>G (p.Arg1125Gly) c.3307C>G (p.Arg1103Gly) c.3367C>G (p.Arg1123Gly) c.3313C>G (p.Arg1105Gly) c.3238C>G (p.Arg1080Gly) c.2833C>G (p.Arg945Gly) c.2191C>G (p.Arg731Gly) n.3616C>G | dbSNP gnomAD v4 |
| 10 | g.71709169C= | CA1918840907 | CDH23 | c.3178C= (p.Arg1060=) c.2609C= c.3193C= (p.Arg1065=) c.1953C= c.3373C= (p.Arg1125=) c.3307C= (p.Arg1103=) c.3367C= (p.Arg1123=) c.3313C= (p.Arg1105=) c.3238C= (p.Arg1080=) c.2833C= (p.Arg945=) c.2191C= (p.Arg731=) n.3616C= | dbSNP |