Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.5904716G>T | CA415785755 | NPHP4 | c.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 |
1 | g.5904716G>A | CA116185 | NPHP4 | c.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 |