| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.5874542G>T | CA553776 | NPHP4 | c.3160C>A (p.Arg1054Ser) c.*2061C>A (n.*2061C>A) n.2892C>A c.*971C>A (n.*971C>A) c.1621C>A (p.Arg541Ser) c.1624C>A (p.Arg542Ser) n.3975C>A c.3157C>A (p.Arg1053Ser) c.3118C>A (p.Arg1040Ser) c.3049C>A (p.Arg1017Ser) c.3106C>A (p.Arg1036Ser) n.3082+332C>A c.3115C>A (p.Arg1039Ser) c.2632C>A (p.Arg878Ser) c.2362C>A (p.Arg788Ser) n.3198C>A n.3927C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.5874542G>A | CA235733 | NPHP4 | c.3160C>T (p.Arg1054Cys) c.*2061C>T (n.*2061C>T) n.2892C>T c.*971C>T (n.*971C>T) c.1621C>T (p.Arg541Cys) c.1624C>T (p.Arg542Cys) n.3975C>T c.3157C>T (p.Arg1053Cys) c.3118C>T (p.Arg1040Cys) c.3049C>T (p.Arg1017Cys) c.3106C>T (p.Arg1036Cys) n.3082+332C>T c.3115C>T (p.Arg1039Cys) c.2632C>T (p.Arg878Cys) c.2362C>T (p.Arg788Cys) n.3198C>T n.3927C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.5874542G= | CA1143923094 | NPHP4 | c.3160C= (p.Arg1054=) c.*2061C= (n.*2061C=) n.2892C= c.*971C= (n.*971C=) c.1621C= (p.Arg541=) c.1624C= (p.Arg542=) n.3975C= c.3157C= (p.Arg1053=) c.3118C= (p.Arg1040=) c.3049C= (p.Arg1017=) c.3106C= (p.Arg1036=) n.3082+332C= c.3115C= (p.Arg1039=) c.2632C= (p.Arg878=) c.2362C= (p.Arg788=) n.3198C= n.3927C= | dbSNP |