| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.5880183G>A | CA148737 | NPHP4 | c.2542C>T (p.Arg848Trp) c.*1443C>T (n.*1443C>T) n.2667C>T n.2274C>T c.2539C>T (p.Arg847Trp) c.1003C>T (p.Arg335Trp) c.1006C>T (p.Arg336Trp) n.2807C>T c.2431C>T (p.Arg811Trp) c.2488C>T (p.Arg830Trp) n.2580C>T n.2419C>T c.2014C>T (p.Arg672Trp) c.1744C>T (p.Arg582Trp) n.2759C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.5880183G= | CA1140470449 | NPHP4 | c.2542C= (p.Arg848=) c.*1443C= (n.*1443C=) n.2667C= n.2274C= c.2539C= (p.Arg847=) c.1003C= (p.Arg335=) c.1006C= (p.Arg336=) n.2807C= c.2431C= (p.Arg811=) c.2488C= (p.Arg830=) n.2580C= n.2419C= c.2014C= (p.Arg672=) c.1744C= (p.Arg582=) n.2759C= | dbSNP |