| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.68833362A>C | CA396472246 | CDH1 | c.2512A>C (p.Ser838Arg) c.2329A>C (p.Ser777Arg) n.730A>C n.2583A>C c.*1178A>C (n.*1178A>C) c.*752A>C (n.*752A>C) c.2575A>C (p.Ser859Arg) c.1854-829A>C (n.1854-829A>C) c.1866-841A>C (n.1866-841A>C) c.1777A>C (p.Ser593Arg) c.964A>C (p.Ser322Arg) c.547A>C (p.Ser183Arg) | dbSNP gnomAD v4 |
| 16 | g.68833362A>T | CA396472250 | CDH1 | c.2512A>T (p.Ser838Cys) c.2329A>T (p.Ser777Cys) n.730A>T n.2583A>T c.*1178A>T (n.*1178A>T) c.*752A>T (n.*752A>T) c.2575A>T (p.Ser859Cys) c.1854-829A>T (n.1854-829A>T) c.1866-841A>T (n.1866-841A>T) c.1777A>T (p.Ser593Cys) c.964A>T (p.Ser322Cys) c.547A>T (p.Ser183Cys) | dbSNP |
| 16 | g.68833362A>G | CA121994 | CDH1 | c.2512A>G (p.Ser838Gly) c.2329A>G (p.Ser777Gly) n.730A>G n.2583A>G c.*1178A>G (n.*1178A>G) c.*752A>G (n.*752A>G) c.2575A>G (p.Ser859Gly) c.1854-829A>G (n.1854-829A>G) c.1866-841A>G (n.1866-841A>G) c.1777A>G (p.Ser593Gly) c.964A>G (p.Ser322Gly) c.547A>G (p.Ser183Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |