| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215780023G>A | CA262064 | USH2A | c.10759C>T (p.Gln3587Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.215780023G= | CA1141189273 | USH2A | c.10759C= (p.Gln3587=) | dbSNP |
| 1 | g.215780023G>C | CA344834440 | USH2A | c.10759C>G (p.Gln3587Glu) | dbSNP |