| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.132676476G>T | CA10588810 | NPHP3-ACAD11,UBA5 | c.1336G>T (p.Asp446Tyr) c.1165G>T (p.Asp389Tyr) c.997G>T (p.Asp333Tyr) n.2596G>T c.*1980+5438C>A (n.*1980+5438C>A) c.*14G>T (n.*14G>T) c.1132-379G>T (n.1132-379G>T) n.440G>T c.636+5438C>A n.3995+5438C>A c.829G>T (p.Asp277Tyr) c.1024G>T (p.Asp342Tyr) c.895G>T (p.Asp299Tyr) n.1631G>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.132676476G= | CA1402640653 | NPHP3-ACAD11,UBA5 | c.1336G= (p.Asp446=) c.1165G= (p.Asp389=) c.997G= (p.Asp333=) n.2596G= c.*1980+5438C= (n.*1980+5438C=) c.*14G= (n.*14G=) c.1132-379G= (n.1132-379G=) n.440G= c.636+5438C= n.3995+5438C= c.829G= (p.Asp277=) c.1024G= (p.Asp342=) c.895G= (p.Asp299=) n.1631G= | dbSNP |