| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.132675339C>T | CA10588807 | NPHP3-ACAD11,UBA5 | c.1075C>T (p.Gln359Ter) c.904C>T (p.Gln302Ter) c.736C>T (p.Gln246Ter) n.2335C>T c.*1980+6575G>A (n.*1980+6575G>A) c.636+6575G>A n.3995+6575G>A c.568C>T (p.Gln190Ter) c.763C>T (p.Gln255Ter) c.634C>T (p.Gln212Ter) n.1415-266C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.132675339C= | CA1402639557 | NPHP3-ACAD11,UBA5 | c.1075C= (p.Gln359=) c.904C= (p.Gln302=) c.736C= (p.Gln246=) n.2335C= c.*1980+6575G= (n.*1980+6575G=) c.636+6575G= n.3995+6575G= c.568C= (p.Gln190=) c.763C= (p.Gln255=) c.634C= (p.Gln212=) n.1415-266C= | dbSNP |