| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.216250989C>G | CA344866378 | USH2A | c.2081G>C (p.Cys694Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216250989C>T | CA1396311 | USH2A | c.2081G>A (p.Cys694Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216250989C>A | CA344866377 | USH2A | c.2081G>T (p.Cys694Phe) | dbSNP gnomAD v4 |
| 1 | g.216250989C= | CA1141587440 | USH2A | c.2081G= (p.Cys694=) | dbSNP |