| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26461756G>C | CA340527 | OTOF | c.5473C>G (p.Pro1825Ala) c.3172C>G (p.Pro1058Ala) c.3232C>G (p.Pro1078Ala) c.3403C>G (p.Pro1135Ala) c.5458C>G (p.Pro1820Ala) c.5518C>G (p.Pro1840Ala) c.5413C>G (p.Pro1805Ala) | ClinVar dbSNP |
| 2 | g.26461756G>A | CA346131372 | OTOF | c.5473C>T (p.Pro1825Ser) c.3172C>T (p.Pro1058Ser) c.3232C>T (p.Pro1078Ser) c.3403C>T (p.Pro1135Ser) c.5458C>T (p.Pro1820Ser) c.5518C>T (p.Pro1840Ser) c.5413C>T (p.Pro1805Ser) | dbSNP gnomAD v4 |
| 2 | g.26461756G= | CA1239825412 | OTOF | c.5473C= (p.Pro1825=) c.3172C= (p.Pro1058=) c.3232C= (p.Pro1078=) c.3403C= (p.Pro1135=) c.5458C= (p.Pro1820=) c.5518C= (p.Pro1840=) c.5413C= (p.Pro1805=) | dbSNP |