| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.216325499G>A | CA344912575 | USH2A | c.949C>T (p.Arg317Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216325499G>T | CA252237 | USH2A | c.949C>A (p.Arg317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216325499G= | CA1141189317 | USH2A | c.949C= (p.Arg317=) | dbSNP |
| 1 | g.216325499G>C | CA344912576 | USH2A | c.949C>G (p.Arg317Gly) | dbSNP |