| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89283953dup | CA10603425 | ANKRD11 | c.2589dup (p.Asp864ArgfsTer?) c.*2392dup (n.*2392dup) c.2214dup (p.Asp739ArgfsTer?) c.744+4575dup (n.744+4575dup) c.151+4575dup c.2487dup (p.Asp830ArgfsTer?) c.2292dup (p.Asp765ArgfsTer?) c.2460dup (p.Asp821ArgfsTer?) | ClinVar dbSNP |
| 16 | g.89283953T= | CA3217646768 | ANKRD11 | c.2589A= (p.Thr863=) c.*2392A= (n.*2392A=) c.2214A= (p.Thr738=) c.744+4575A= (n.744+4575A=) c.151+4575A= c.2487A= (p.Thr829=) c.2292A= (p.Thr764=) c.2460A= (p.Thr820=) | dbSNP |