| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.35103534del | CA16620385 | RAD51D | c.452del (p.Ser151PhefsTer5) c.230del (p.Ser77PhefsTer5) c.647del (p.Ser216PhefsTer5) n.543del c.587del (p.Ser196PhefsTer5) c.251del (p.Ser84PhefsTer5) c.56del (p.Ser19PhefsTer5) c.*318del (n.*318del) c.*181del (n.*181del) c.*327del (n.*327del) c.*70del (n.*70del) c.*183del (n.*183del) c.593del (p.Ser198PhefsTer5) c.110del (p.Ser37PhefsTer5) n.724del n.589del n.339del n.613del n.478del | ClinVar dbSNP |
| 17 | g.35103534G= | CA3223488323 | RAD51D | c.452C= (p.Ser151=) c.230C= (p.Ser77=) c.647C= (p.Ser216=) n.543C= c.587C= (p.Ser196=) c.251C= (p.Ser84=) c.56C= (p.Ser19=) c.*318C= (n.*318C=) c.*181C= (n.*181C=) c.*327C= (n.*327C=) c.*70C= (n.*70C=) c.*183C= (n.*183C=) c.593C= (p.Ser198=) c.110C= (p.Ser37=) n.724C= n.589C= n.339C= n.613C= n.478C= | dbSNP dbSNP |