| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215845831G>A | CA37444338 | USH2A | c.9048C>T (p.Cys3016=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215845831G>T | CA16043856 | USH2A | c.9048C>A (p.Cys3016Ter) | ClinVar dbSNP |
| 1 | g.215845831G= | CA1220446679 | USH2A | c.9048C= (p.Cys3016=) | dbSNP |
| 1 | g.215845831G>C | CA344840185 | USH2A | c.9048C>G (p.Cys3016Trp) | dbSNP gnomAD v4 |