| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215640723G>A | CA273457 | USH2A | c.14803C>T (p.Arg4935Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215640723G>T | CA423306924 | USH2A | c.14803C>A (p.Arg4935=) | ClinVar dbSNP |
| 1 | g.215640723G= | CA1142134043 | USH2A | c.14803C= (p.Arg4935=) | dbSNP |
| 1 | g.215640723G>C | CA344828583 | USH2A | c.14803C>G (p.Arg4935Gly) | dbSNP gnomAD v4 |