| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.216247185G>A | CA252242 | USH2A | c.2209C>T (p.Arg737Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216247185G>T | CA423431700 | USH2A | c.2209C>A (p.Arg737=) | ClinVar dbSNP |
| 1 | g.216247185G>C | CA344865601 | USH2A | c.2209C>G (p.Arg737Gly) | dbSNP gnomAD v4 |
| 1 | g.216247185G= | CA1141189310 | USH2A | c.2209C= (p.Arg737=) | dbSNP |