Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.132672101C>ACA2621446NPHP3-ACAD11,UBA5c.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
3g.132672101C>TCA2621447NPHP3-ACAD11,UBA5c.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

Number of alleles fetched