| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.139166872G>A | CA4508280 | IFT56 | c.835G>A (p.Asp279Asn) c.928G>A (p.Asp310Asn) c.*681G>A (n.*681G>A) c.607G>A (p.Asp203Asn) n.1006G>A c.535G>A (p.Asp179Asn) c.613G>A (p.Asp205Asn) c.508G>A (p.Asp170Asn) c.610G>A (p.Asp204Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.139166872G= | CA1746974423 | IFT56 | c.835G= (p.Asp279=) c.928G= (p.Asp310=) c.*681G= (n.*681G=) c.607G= (p.Asp203=) n.1006G= c.535G= (p.Asp179=) c.613G= (p.Asp205=) c.508G= (p.Asp170=) c.610G= (p.Asp204=) | dbSNP |