| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.68296299dup | CA344800 | PIK3R1 | c.1043dup (p.Arg349ProfsTer5) c.1133dup (p.Arg379ProfsTer5) c.1943dup (p.Arg649ProfsTer5) c.*913dup (n.*913dup) c.1868dup (p.Arg624ProfsTer5) c.1418dup (p.Arg474ProfsTer5) c.1967dup (p.Arg657ProfsTer5) c.1157dup (p.Arg387ProfsTer5) n.1608dup c.*909dup (n.*909dup) c.980dup (p.Arg328ProfsTer5) c.950dup (p.Arg318ProfsTer5) c.854dup (p.Arg286ProfsTer5) c.926dup (p.Arg310ProfsTer5) c.635dup (p.Arg213ProfsTer5) c.539dup (p.Arg181ProfsTer5) n.2486dup c.1616dup (p.Arg540ProfsTer5) c.1670dup (p.Arg558ProfsTer5) | ClinVar dbSNP |
| 5 | g.68296299T= | CA3123448568 | PIK3R1 | c.1043T= (p.Val348=) c.1133T= (p.Val378=) c.1943T= (p.Val648=) c.*913T= (n.*913T=) c.1868T= (p.Val623=) c.1418T= (p.Val473=) c.1967T= (p.Val656=) c.1157T= (p.Val386=) n.1608T= c.*909T= (n.*909T=) c.980T= (p.Val327=) c.950T= (p.Val317=) c.854T= (p.Val285=) c.926T= (p.Val309=) c.635T= (p.Val212=) c.539T= (p.Val180=) n.2486T= c.1616T= (p.Val539=) c.1670T= (p.Val557=) | dbSNP |