| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197421404C>T | CA170083 | CRB1 | c.1576C>T (p.Arg526Ter) c.457C>T (p.Arg153Ter) c.-282C>T (n.-282C>T) c.1240C>T (p.Arg414Ter) n.536C>T c.1369C>T (p.Arg457Ter) n.1785C>T c.994C>T (p.Arg332Ter) c.19C>T (p.Arg7Ter) c.733C>T (p.Arg245Ter) n.1737C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.197421404C= | CA1141396195 | CRB1 | c.1576C= (p.Arg526=) c.457C= (p.Arg153=) c.-282C= (n.-282C=) c.1240C= (p.Arg414=) n.536C= c.1369C= (p.Arg457=) n.1785C= c.994C= (p.Arg332=) c.19C= (p.Arg7=) c.733C= (p.Arg245=) n.1737C= | dbSNP |