Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.5904716G>TCA415785755NPHP4c.2044C>A (p.Arg682=)
c.*945C>A (n.*945C>A)
c.122C>A
n.1776C>A
c.2041C>A (p.Arg681=)
c.505C>A (p.Arg169=)
c.508C>A (p.Arg170=)
n.2309C>A
c.1933C>A (p.Arg645=)
c.1990C>A (p.Arg664=)
n.2082C>A
c.1516C>A (p.Arg506=)
c.1246C>A (p.Arg416=)
n.2261C>A
dbSNP gnomAD v2 gnomAD v4
1g.5904716G>ACA116185NPHP4c.2044C>T (p.Arg682Ter)
c.*945C>T (n.*945C>T)
c.122C>T
n.1776C>T
c.2041C>T (p.Arg681Ter)
c.505C>T (p.Arg169Ter)
c.508C>T (p.Arg170Ter)
n.2309C>T
c.1933C>T (p.Arg645Ter)
c.1990C>T (p.Arg664Ter)
n.2082C>T
c.1516C>T (p.Arg506Ter)
c.1246C>T (p.Arg416Ter)
n.2261C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched