| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.132665830A>G | CA2621286 | NPHP3-ACAD11,UBA5 | c.340A>G (p.Met114Val) c.169A>G (p.Met57Val) c.1A>G (p.Met1Val) c.28-2988A>G (n.28-2988A>G) n.364A>G c.*1980+16084T>C (n.*1980+16084T>C) c.162-2988A>G (n.162-2988A>G) c.636+16084T>C n.3995+16084T>C c.-39-2988A>G (n.-39-2988A>G) n.771A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.132665830A= | CA1402623072 | NPHP3-ACAD11,UBA5 | c.340A= (p.Met114=) c.169A= (p.Met57=) c.1A= (p.Met1=) c.28-2988A= (n.28-2988A=) n.364A= c.*1980+16084T= (n.*1980+16084T=) c.162-2988A= (n.162-2988A=) c.636+16084T= n.3995+16084T= c.-39-2988A= (n.-39-2988A=) n.771A= | dbSNP |