| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197434732C>T | CA10581631 | CRB1 | c.2869C>T (p.Gln957Ter) c.1750C>T (p.Gln584Ter) c.1012C>T (p.Gln338Ter) c.2533C>T (p.Gln845Ter) c.2797C>T (p.Gln933Ter) c.2129-868C>T (n.2129-868C>T) n.2870C>T n.3078C>T c.2287C>T (p.Gln763Ter) c.1312C>T (p.Gln438Ter) c.2026C>T (p.Gln676Ter) c.3004C>T (p.Gln1002Ter) n.2822C>T n.3030C>T | ClinVar dbSNP gnomAD v4 |
| 1 | g.197434732C= | CA1218068648 | CRB1 | c.2869C= (p.Gln957=) c.1750C= (p.Gln584=) c.1012C= (p.Gln338=) c.2533C= (p.Gln845=) c.2797C= (p.Gln933=) c.2129-868C= (n.2129-868C=) n.2870C= n.3078C= c.2287C= (p.Gln763=) c.1312C= (p.Gln438=) c.2026C= (p.Gln676=) c.3004C= (p.Gln1002=) n.2822C= n.3030C= | dbSNP |