| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.132675290C>T | CA2621470 | NPHP3-ACAD11,UBA5 | c.1026C>T (p.Tyr342=) c.855C>T (p.Tyr285=) c.687C>T (p.Tyr229=) n.2286C>T c.*1980+6624G>A (n.*1980+6624G>A) c.636+6624G>A n.3995+6624G>A c.519C>T (p.Tyr173=) c.714C>T (p.Tyr238=) c.585C>T (p.Tyr195=) n.1415-315C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.132675290C>A | CA10588804 | NPHP3-ACAD11,UBA5 | c.1026C>A (p.Tyr342Ter) c.855C>A (p.Tyr285Ter) c.687C>A (p.Tyr229Ter) n.2286C>A c.*1980+6624G>T (n.*1980+6624G>T) c.636+6624G>T n.3995+6624G>T c.519C>A (p.Tyr173Ter) c.714C>A (p.Tyr238Ter) c.585C>A (p.Tyr195Ter) n.1415-315C>A | ClinVar dbSNP gnomAD v4 |