| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215993103G>A | CA344860455 | USH2A | c.6722C>T (p.Pro2241Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215993103G>T | CA16043365 | USH2A | c.6722C>A (p.Pro2241His) | ClinVar dbSNP |
| 1 | g.215993103G= | CA1220510550 | USH2A | c.6722C= (p.Pro2241=) | dbSNP |