| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.26460059G>C | CA342580 | OTOF | c.5960C>G (p.Pro1987Arg) c.3512+588C>G (n.3512+588C>G) c.3719C>G (p.Pro1240Arg) c.3659C>G (p.Pro1220Arg) c.3890C>G (p.Pro1297Arg) c.5813+588C>G (n.5813+588C>G) c.5798+588C>G (n.5798+588C>G) c.5858+588C>G (n.5858+588C>G) c.5900C>G (p.Pro1967Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.26460059G= | CA1239823986 | OTOF | c.5960C= (p.Pro1987=) c.3512+588C= (n.3512+588C=) c.3719C= (p.Pro1240=) c.3659C= (p.Pro1220=) c.3890C= (p.Pro1297=) c.5813+588C= (n.5813+588C=) c.5798+588C= (n.5798+588C=) c.5858+588C= (n.5858+588C=) c.5900C= (p.Pro1967=) | dbSNP |