| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.132675363A>G | CA10588812 | NPHP3-ACAD11,UBA5 | c.1099A>G (p.Lys367Glu) c.928A>G (p.Lys310Glu) c.760A>G (p.Lys254Glu) n.2359A>G c.*1980+6551T>C (n.*1980+6551T>C) c.636+6551T>C n.3995+6551T>C c.592A>G (p.Lys198Glu) c.787A>G (p.Lys263Glu) c.658A>G (p.Lys220Glu) n.1415-242A>G | ClinVar dbSNP |
| 3 | g.132675363A= | CA1402639586 | NPHP3-ACAD11,UBA5 | c.1099A= (p.Lys367=) c.928A= (p.Lys310=) c.760A= (p.Lys254=) n.2359A= c.*1980+6551T= (n.*1980+6551T=) c.636+6551T= n.3995+6551T= c.592A= (p.Lys198=) c.787A= (p.Lys263=) c.658A= (p.Lys220=) n.1415-242A= | dbSNP |