Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.151427984C>A | CA341976452 | POGZ | c.965G>T (p.Arg322Leu) c.758G>T (p.Arg253Leu) c.917G>T (p.Arg306Leu) c.938G>T (p.Arg313Leu) c.890G>T (p.Arg297Leu) n.786G>T c.632G>T (p.Arg211Leu) n.946G>T c.731G>T (p.Arg244Leu) c.154G>T c.809G>T (p.Arg270Leu) c.560G>T (p.Arg187Leu) n.918G>T c.-177G>T (n.-177G>T) n.945G>T | dbSNP gnomAD v4 |
1 | g.151427984C>T | CA16042298 | POGZ | c.965G>A (p.Arg322Gln) c.758G>A (p.Arg253Gln) c.917G>A (p.Arg306Gln) c.938G>A (p.Arg313Gln) c.890G>A (p.Arg297Gln) n.786G>A c.632G>A (p.Arg211Gln) n.946G>A c.731G>A (p.Arg244Gln) c.154G>A c.809G>A (p.Arg270Gln) c.560G>A (p.Arg187Gln) n.918G>A c.-177G>A (n.-177G>A) n.945G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |