| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.80239362del | CA6700335 | OTOGL | c.975del (p.Leu325PhefsTer6) n.1635del c.948del (p.Leu316PhefsTer6) c.999del (p.Leu333PhefsTer6) c.846del (p.Leu282PhefsTer6) c.633del (p.Leu211PhefsTer6) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.80239362G= | CA3191870323 | OTOGL | c.975G= (p.Leu325=) n.1635G= c.948G= (p.Leu316=) c.999G= (p.Leu333=) c.846G= (p.Leu282=) c.633G= (p.Leu211=) | dbSNP dbSNP |