| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133459039dup | CA117764 | ADAMTS13 | c.3975dup (p.Glu1326ArgfsTer6) c.3882dup (p.Glu1295ArgfsTer6) c.531dup (p.Glu178ArgfsTer6) c.*1444dup (n.*1444dup) c.4143dup (p.Glu1382ArgfsTer6) n.2606dup n.2625dup c.3753dup (p.Glu1252ArgfsTer6) c.3159dup (p.Glu1054ArgfsTer6) c.3153dup (p.Glu1052ArgfsTer6) c.2808dup (p.Glu937ArgfsTer6) c.2409dup (p.Glu804ArgfsTer6) c.4131dup (p.Glu1378ArgfsTer6) n.2627dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133459039A= | CA1882683863 | ADAMTS13 | c.3975A= (p.Ser1325=) c.3882A= (p.Ser1294=) c.531A= (p.Ser177=) c.*1444A= (n.*1444A=) c.4143A= (p.Ser1381=) n.2606A= n.2625A= c.3753A= (p.Ser1251=) c.3159A= (p.Ser1053=) c.3153A= (p.Ser1051=) c.2808A= (p.Ser936=) c.2409A= (p.Ser803=) c.4131A= (p.Ser1377=) n.2627A= | dbSNP dbSNP |