| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17531414del | CA597904683 | USH1C | c.238del (p.Arg80GlyfsTer6) c.271del (p.Arg91GlyfsTer6) c.145del (p.Arg49GlyfsTer6) n.347del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17531414dup | CA340348 | USH1C | c.238dup (p.Arg80ProfsTer?) c.271dup (p.Arg91ProfsTer?) c.145dup (p.Arg49ProfsTer?) n.347dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |