| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215671085T>C | CA252244 | USH2A | c.14020A>G (p.Arg4674Gly) | ClinVar dbSNP |
| 1 | g.215671085T>G | CA423426334 | USH2A | c.14020A>C (p.Arg4674=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671085T>A | CA344840611 | USH2A | c.14020A>T (p.Arg4674Ter) | dbSNP |
| 1 | g.215671085T= | CA1141188384 | USH2A | c.14020A= (p.Arg4674=) | dbSNP |