| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215782058C>G | CA344836162 | USH2A | c.10724G>C (p.Cys3575Ser) | ClinVar dbSNP |
| 1 | g.215782058C>T | CA262062 | USH2A | c.10724G>A (p.Cys3575Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782058C= | CA1141189275 | USH2A | c.10724G= (p.Cys3575=) | dbSNP |
| 1 | g.215782058C>A | CA344836159 | USH2A | c.10724G>T (p.Cys3575Phe) | ClinVar dbSNP |