| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.68822081C>G | CA16615250 | CDH1 | c.1792C>G (p.Arg598Gly) c.1609C>G (p.Arg537Gly) n.1863C>G c.*458C>G (n.*458C>G) c.*32C>G (n.*32C>G) c.1855C>G (p.Arg619Gly) c.1057C>G (p.Arg353Gly) c.244C>G (p.Arg82Gly) c.-174C>G (n.-174C>G) | ClinVar dbSNP COSMIC |
| 16 | g.68822081C>T | CA281000 | CDH1 | c.1792C>T (p.Arg598Ter) c.1609C>T (p.Arg537Ter) n.1863C>T c.*458C>T (n.*458C>T) c.*32C>T (n.*32C>T) c.1855C>T (p.Arg619Ter) c.1057C>T (p.Arg353Ter) c.244C>T (p.Arg82Ter) c.-174C>T (n.-174C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.68822081C= | CA2229980523 | CDH1 | c.1792C= (p.Arg598=) c.1609C= (p.Arg537=) n.1863C= c.*458C= (n.*458C=) c.*32C= (n.*32C=) c.1855C= (p.Arg619=) c.1057C= (p.Arg353=) c.244C= (p.Arg82=) c.-174C= (n.-174C=) | dbSNP |