| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.80318671dup | CA606197365 | OTOGL | c.3760dup (p.Tyr1254LeufsTer25) c.3625dup (p.Tyr1209LeufsTer25) c.3733dup (p.Tyr1245LeufsTer25) c.3784dup (p.Tyr1262LeufsTer25) c.3631dup (p.Tyr1211LeufsTer25) c.3418dup (p.Tyr1140LeufsTer25) c.3598dup (p.Tyr1200LeufsTer25) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.80318671del | CA16619591 | OTOGL | c.3760del (p.Tyr1254IlefsTer3) c.3625del (p.Tyr1209IlefsTer3) c.3733del (p.Tyr1245IlefsTer3) c.3784del (p.Tyr1262IlefsTer3) c.3631del (p.Tyr1211IlefsTer3) c.3418del (p.Tyr1140IlefsTer3) c.3598del (p.Tyr1200IlefsTer3) | ClinVar dbSNP gnomAD v2 gnomAD v4 |