| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197429460T>A | CA203679 | CRB1 | c.2688T>A (p.Cys896Ter) c.1569T>A (p.Cys523Ter) c.831T>A (p.Cys277Ter) c.2352T>A (p.Cys784Ter) c.2616T>A (p.Cys872Ter) c.2129-6140T>A (n.2129-6140T>A) n.2689T>A n.2897T>A c.2106T>A (p.Cys702Ter) c.1131T>A (p.Cys377Ter) c.1845T>A (p.Cys615Ter) c.2823T>A (p.Cys941Ter) n.2641T>A n.2849T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.197429460T>C | CA422672255 | CRB1 | c.2688T>C (p.Cys896=) c.1569T>C (p.Cys523=) c.831T>C (p.Cys277=) c.2352T>C (p.Cys784=) c.2616T>C (p.Cys872=) c.2129-6140T>C (n.2129-6140T>C) n.2689T>C n.2897T>C c.2106T>C (p.Cys702=) c.1131T>C (p.Cys377=) c.1845T>C (p.Cys615=) c.2823T>C (p.Cys941=) n.2641T>C n.2849T>C | ClinVar dbSNP |