| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.80279091C>G | CA6700912 | OTOGL | c.2853C>G (p.Tyr951Ter) c.2826C>G (p.Tyr942Ter) c.2877C>G (p.Tyr959Ter) c.2724C>G (p.Tyr908Ter) c.2511C>G (p.Tyr837Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.80279091C>T | CA6700913 | OTOGL | c.2853C>T (p.Tyr951=) c.2826C>T (p.Tyr942=) c.2877C>T (p.Tyr959=) c.2724C>T (p.Tyr908=) c.2511C>T (p.Tyr837=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |