| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215782873G>T | CA1394009 | USH2A | c.10450C>A (p.Arg3484=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782873G>A | CA262056 | USH2A | c.10450C>T (p.Arg3484Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215782873G= | CA1141189280 | USH2A | c.10450C= (p.Arg3484=) | dbSNP |
| 1 | g.215782873G>C | CA344837924 | USH2A | c.10450C>G (p.Arg3484Gly) | dbSNP |