| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.71811364C>A | CA5546889 | CDH23 | c.9127C>A (p.Arg3043=) c.3060C>A (n.3060C>A) c.2724C>A (n.2724C>A) c.9142C>A (p.Arg3048=) c.2407C>A (p.Arg803=) n.2663C>A c.9322C>A (p.Arg3108=) c.9256C>A (p.Arg3086=) c.9319C>A (p.Arg3107=) c.9316C>A (p.Arg3106=) c.9262C>A (p.Arg3088=) c.9232C>A (p.Arg3078=) c.9187C>A (p.Arg3063=) c.8782C>A (p.Arg2928=) c.8140C>A (p.Arg2714=) c.5650C>A (p.Arg1884=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.71811364C>T | CA5546888 | CDH23 | c.9127C>T (p.Arg3043Trp) c.3060C>T (n.3060C>T) c.2724C>T (n.2724C>T) c.9142C>T (p.Arg3048Trp) c.2407C>T (p.Arg803Trp) n.2663C>T c.9322C>T (p.Arg3108Trp) c.9256C>T (p.Arg3086Trp) c.9319C>T (p.Arg3107Trp) c.9316C>T (p.Arg3106Trp) c.9262C>T (p.Arg3088Trp) c.9232C>T (p.Arg3078Trp) c.9187C>T (p.Arg3063Trp) c.8782C>T (p.Arg2928Trp) c.8140C>T (p.Arg2714Trp) c.5650C>T (p.Arg1884Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |