| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.68828254C>A | CA496157170 | CDH1 | c.2245C>A (p.Arg749=) c.2062C>A (p.Arg688=) n.463C>A n.2316C>A c.*911C>A (n.*911C>A) c.*485C>A (n.*485C>A) c.2308C>A (p.Arg770=) c.1853+1700C>A (n.1853+1700C>A) c.1866-5949C>A (n.1866-5949C>A) c.1510C>A (p.Arg504=) c.697C>A (p.Arg233=) c.280C>A (p.Arg94=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.68828254C>G | CA396469803 | CDH1 | c.2245C>G (p.Arg749Gly) c.2062C>G (p.Arg688Gly) n.463C>G n.2316C>G c.*911C>G (n.*911C>G) c.*485C>G (n.*485C>G) c.2308C>G (p.Arg770Gly) c.1853+1700C>G (n.1853+1700C>G) c.1866-5949C>G (n.1866-5949C>G) c.1510C>G (p.Arg504Gly) c.697C>G (p.Arg233Gly) c.280C>G (p.Arg94Gly) | ClinVar dbSNP |
| 16 | g.68828254C>T | CA8130235 | CDH1 | c.2245C>T (p.Arg749Trp) c.2062C>T (p.Arg688Trp) n.463C>T n.2316C>T c.*911C>T (n.*911C>T) c.*485C>T (n.*485C>T) c.2308C>T (p.Arg770Trp) c.1853+1700C>T (n.1853+1700C>T) c.1866-5949C>T (n.1866-5949C>T) c.1510C>T (p.Arg504Trp) c.697C>T (p.Arg233Trp) c.280C>T (p.Arg94Trp) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |