| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26476014G>T | CA345110 | OTOF | c.2891C>A (p.Ala964Glu) c.650C>A (p.Ala217Glu) c.821C>A (p.Ala274Glu) c.2936C>A (p.Ala979Glu) | ClinVar dbSNP |
| 2 | g.26476014G>C | CA1563732 | OTOF | c.2891C>G (p.Ala964Gly) c.650C>G (p.Ala217Gly) c.821C>G (p.Ala274Gly) c.2936C>G (p.Ala979Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.26476014G>A | CA1563731 | OTOF | c.2891C>T (p.Ala964Val) c.650C>T (p.Ala217Val) c.821C>T (p.Ala274Val) c.2936C>T (p.Ala979Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |