Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.50722629G>C | CA117015 | NOD2 | c.2382-7189G>C (n.2382-7189G>C) c.*406G>C (n.*406G>C) c.468G>C c.356G>C c.272G>C n.2119G>C c.2641G>C (p.Gly881Arg) c.2722G>C (p.Gly908Arg) c.216G>C c.188G>C c.300G>C c.452G>C c.2557G>C (p.Gly853Arg) c.2218G>C (p.Gly740Arg) c.2056G>C (p.Gly686Arg) n.2563G>C n.2479G>C n.2759G>C c.2149G>C (p.Gly717Arg) n.2516G>C n.2432G>C n.2712G>C n.2853G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.50722629G>T | CA8051955 | NOD2 | c.2382-7189G>T (n.2382-7189G>T) c.*406G>T (n.*406G>T) c.468G>T c.356G>T c.272G>T n.2119G>T c.2641G>T (p.Gly881Cys) c.2722G>T (p.Gly908Cys) c.216G>T c.188G>T c.300G>T c.452G>T c.2557G>T (p.Gly853Cys) c.2218G>T (p.Gly740Cys) c.2056G>T (p.Gly686Cys) n.2563G>T n.2479G>T n.2759G>T c.2149G>T (p.Gly717Cys) n.2516G>T n.2432G>T n.2712G>T n.2853G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |