| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.197442275del | CA16603291 | CRB1 | c.3988del (p.Glu1330SerfsTer11) c.3988del (p.Glu1330SerfsTer7) c.2869del (p.Glu957SerfsTer7) c.*3596del (n.*3596del) c.3652del (p.Glu1218SerfsTer11) c.106del (p.Glu36SerfsTer20) c.3916del (p.Glu1306SerfsTer11) c.2380del (p.Glu794SerfsTer11) n.3989del n.4197del c.3988del (p.Glu1330SerfsTer?) c.3988del (p.Glu1330SerfsTer20) c.3878+3600del (n.3878+3600del) c.3406del (p.Glu1136SerfsTer11) c.2431del (p.Glu811SerfsTer11) c.3145del (p.Glu1049SerfsTer11) c.4123del (p.Glu1375SerfsTer11) n.3941del n.4149del | ClinVar dbSNP gnomAD v4 |
| 1 | g.197442275G= | CA1218071714 | CRB1 | c.3988G= (p.Glu1330=) c.2869G= (p.Glu957=) c.*3596G= (n.*3596G=) c.3652G= (p.Glu1218=) c.106G= (p.Glu36=) c.3916G= (p.Glu1306=) c.2380G= (p.Glu794=) n.3989G= n.4197G= c.3878+3600G= (n.3878+3600G=) c.3406G= (p.Glu1136=) c.2431G= (p.Glu811=) c.3145G= (p.Glu1049=) c.4123G= (p.Glu1375=) n.3941G= n.4149G= | dbSNP dbSNP |