| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.21715016G>A | CA267576 | OTOA | c.1352G>A (p.Gly451Asp) c.*166G>A (n.*166G>A) c.1394G>A (p.Gly465Asp) c.1115G>A (p.Gly372Asp) c.380G>A (p.Gly127Asp) n.572G>A c.221G>A (p.Gly74Asp) n.447G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.21715016G= | CA2212569454 | OTOA | c.1352G= (p.Gly451=) c.*166G= (n.*166G=) c.1394G= (p.Gly465=) c.1115G= (p.Gly372=) c.380G= (p.Gly127=) n.572G= c.221G= (p.Gly74=) n.447G= | dbSNP |