| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.132671032C>T | CA10588806 | NPHP3-ACAD11,UBA5 | c.733C>T (p.Arg245Ter) c.562C>T (p.Arg188Ter) c.394C>T (p.Arg132Ter) c.292C>T (p.Arg98Ter) n.1825C>T n.351C>T c.*1980+10882G>A (n.*1980+10882G>A) c.*231C>T (n.*231C>T) c.636+10882G>A n.3995+10882G>A c.226C>T (p.Arg76Ter) c.421C>T (p.Arg141Ter) n.1164C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.132671032C>G | CA2621384 | NPHP3-ACAD11,UBA5 | c.733C>G (p.Arg245Gly) c.562C>G (p.Arg188Gly) c.394C>G (p.Arg132Gly) c.292C>G (p.Arg98Gly) n.1825C>G n.351C>G c.*1980+10882G>C (n.*1980+10882G>C) c.*231C>G (n.*231C>G) c.636+10882G>C n.3995+10882G>C c.226C>G (p.Arg76Gly) c.421C>G (p.Arg141Gly) n.1164C>G | dbSNP ExAC gnomAD v4 |