| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215817143C>A | CA262131 | USH2A | c.9424G>T (p.Gly3142Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817143C>G | CA37428117 | USH2A | c.9424G>C (p.Gly3142Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817143C>T | CA344825219 | USH2A | c.9424G>A (p.Gly3142Arg) | dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215817143C= | CA1144229143 | USH2A | c.9424G= (p.Gly3142=) | dbSNP |