| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26467186C>T | CA342570 | OTOF | c.4275G>A (p.Trp1425Ter) c.1974G>A (p.Trp658Ter) c.2034G>A (p.Trp678Ter) c.2205G>A (p.Trp735Ter) c.4260G>A (p.Trp1420Ter) c.4320G>A (p.Trp1440Ter) c.4215G>A (p.Trp1405Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.26467186C= | CA1239817986 | OTOF | c.4275G= (p.Trp1425=) c.1974G= (p.Trp658=) c.2034G= (p.Trp678=) c.2205G= (p.Trp735=) c.4260G= (p.Trp1420=) c.4320G= (p.Trp1440=) c.4215G= (p.Trp1405=) | dbSNP |