| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26460204G>A | CA345142 | OTOF | c.5815C>T (p.Arg1939Trp) c.3512+443C>T (n.3512+443C>T) c.3574C>T (p.Arg1192Trp) c.3514C>T (p.Arg1172Trp) c.3745C>T (p.Arg1249Trp) c.5813+443C>T (n.5813+443C>T) c.5798+443C>T (n.5798+443C>T) c.5858+443C>T (n.5858+443C>T) c.5755C>T (p.Arg1919Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26460204G= | CA1239824174 | OTOF | c.5815C= (p.Arg1939=) c.3512+443C= (n.3512+443C=) c.3574C= (p.Arg1192=) c.3514C= (p.Arg1172=) c.3745C= (p.Arg1249=) c.5813+443C= (n.5813+443C=) c.5798+443C= (n.5798+443C=) c.5858+443C= (n.5858+443C=) c.5755C= (p.Arg1919=) | dbSNP |