Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.132672101C>A | CA2621446 | NPHP3-ACAD11,UBA5 | c.907C>A (p.Arg303=) c.736C>A (p.Arg246=) c.568C>A (p.Arg190=) n.2167C>A n.525C>A c.*1980+9813G>T (n.*1980+9813G>T) c.636+9813G>T n.3995+9813G>T c.400C>A (p.Arg134=) c.595C>A (p.Arg199=) c.466C>A (p.Arg156=) n.1338C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.132672101C>T | CA2621447 | NPHP3-ACAD11,UBA5 | c.907C>T (p.Arg303Ter) c.736C>T (p.Arg246Ter) c.568C>T (p.Arg190Ter) n.2167C>T n.525C>T c.*1980+9813G>A (n.*1980+9813G>A) c.636+9813G>A n.3995+9813G>A c.400C>T (p.Arg134Ter) c.595C>T (p.Arg199Ter) c.466C>T (p.Arg156Ter) n.1338C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |