| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71812511C>T | CA377136447 | CDH23 | c.9412C>T (p.Arg3138Trp) c.3345C>T (n.3345C>T) c.3009C>T (n.3009C>T) c.9427C>T (p.Arg3143Trp) c.2692C>T (p.Arg898Trp) n.2948C>T c.103C>T (p.Arg35Trp) c.9607C>T (p.Arg3203Trp) c.9541C>T (p.Arg3181Trp) c.9604C>T (p.Arg3202Trp) c.9601C>T (p.Arg3201Trp) c.9547C>T (p.Arg3183Trp) c.9517C>T (p.Arg3173Trp) c.9472C>T (p.Arg3158Trp) c.9067C>T (p.Arg3023Trp) c.8425C>T (p.Arg2809Trp) c.5935C>T (p.Arg1979Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.71812511C>A | CA209444024 | CDH23 | c.9412C>A (p.Arg3138=) c.3345C>A (n.3345C>A) c.3009C>A (n.3009C>A) c.9427C>A (p.Arg3143=) c.2692C>A (p.Arg898=) n.2948C>A c.103C>A (p.Arg35=) c.9607C>A (p.Arg3203=) c.9541C>A (p.Arg3181=) c.9604C>A (p.Arg3202=) c.9601C>A (p.Arg3201=) c.9547C>A (p.Arg3183=) c.9517C>A (p.Arg3173=) c.9472C>A (p.Arg3158=) c.9067C>A (p.Arg3023=) c.8425C>A (p.Arg2809=) c.5935C>A (p.Arg1979=) | dbSNP gnomAD v4 |
| 10 | g.71812511C>G | CA377136446 | CDH23 | c.9412C>G (p.Arg3138Gly) c.3345C>G (n.3345C>G) c.3009C>G (n.3009C>G) c.9427C>G (p.Arg3143Gly) c.2692C>G (p.Arg898Gly) n.2948C>G c.103C>G (p.Arg35Gly) c.9607C>G (p.Arg3203Gly) c.9541C>G (p.Arg3181Gly) c.9604C>G (p.Arg3202Gly) c.9601C>G (p.Arg3201Gly) c.9547C>G (p.Arg3183Gly) c.9517C>G (p.Arg3173Gly) c.9472C>G (p.Arg3158Gly) c.9067C>G (p.Arg3023Gly) c.8425C>G (p.Arg2809Gly) c.5935C>G (p.Arg1979Gly) | dbSNP gnomAD v3 gnomAD v4 |