| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26477210G>A | CA340525 | OTOF | c.2485C>T (p.Gln829Ter) c.244C>T (p.Gln82Ter) c.415C>T (p.Gln139Ter) c.2530C>T (p.Gln844Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26477210G= | CA1239829684 | OTOF | c.2485C= (p.Gln829=) c.244C= (p.Gln82=) c.415C= (p.Gln139=) c.2530C= (p.Gln844=) | dbSNP |
| 2 | g.26477210G>C | CA346121640 | OTOF | c.2485C>G (p.Gln829Glu) c.244C>G (p.Gln82Glu) c.415C>G (p.Gln139Glu) c.2530C>G (p.Gln844Glu) | dbSNP |