| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26477441C>T | CA142799 | OTOF | c.2381G>A (p.Arg794His) c.140G>A (p.Arg47His) c.311G>A (p.Arg104His) c.2426G>A (p.Arg809His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26477441C>A | CA346123134 | OTOF | c.2381G>T (p.Arg794Leu) c.140G>T (p.Arg47Leu) c.311G>T (p.Arg104Leu) c.2426G>T (p.Arg809Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26477441C= | CA1239830073 | OTOF | c.2381G= (p.Arg794=) c.140G= (p.Arg47=) c.311G= (p.Arg104=) c.2426G= (p.Arg809=) | dbSNP |
| 2 | g.26477441C>G | CA346123137 | OTOF | c.2381G>C (p.Arg794Pro) c.140G>C (p.Arg47Pro) c.311G>C (p.Arg104Pro) c.2426G>C (p.Arg809Pro) | dbSNP |