| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17527256G>A | CA5905040 | USH1C | c.463C>T (p.Arg155Ter) c.496C>T (p.Arg166Ter) c.370C>T (p.Arg124Ter) n.572C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17527256G= | CA1955187075 | USH1C | c.463C= (p.Arg155=) c.496C= (p.Arg166=) c.370C= (p.Arg124=) n.572C= | dbSNP |