| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.5874946A>G | CA116187 | NPHP4 | c.2972T>C (p.Phe991Ser) c.*1873T>C (n.*1873T>C) n.2704T>C c.*783T>C (n.*783T>C) n.529T>C c.1433T>C (p.Phe478Ser) c.1436T>C (p.Phe479Ser) n.3787T>C c.2969T>C (p.Phe990Ser) c.2930T>C (p.Phe977Ser) c.2861T>C (p.Phe954Ser) c.2918T>C (p.Phe973Ser) n.3010T>C c.2927T>C (p.Phe976Ser) c.2444T>C (p.Phe815Ser) c.2174T>C (p.Phe725Ser) n.3739T>C | ClinVar dbSNP gnomAD v4 |
| 1 | g.5874946A= | CA1140495329 | NPHP4 | c.2972T= (p.Phe991=) c.*1873T= (n.*1873T=) n.2704T= c.*783T= (n.*783T=) n.529T= c.1433T= (p.Phe478=) c.1436T= (p.Phe479=) n.3787T= c.2969T= (p.Phe990=) c.2930T= (p.Phe977=) c.2861T= (p.Phe954=) c.2918T= (p.Phe973=) n.3010T= c.2927T= (p.Phe976=) c.2444T= (p.Phe815=) c.2174T= (p.Phe725=) n.3739T= | dbSNP |