Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.68819393C>G | CA10577547 | CDH1 | c.1679C>G (p.Thr560Arg) c.1496C>G (p.Thr499Arg) n.1750C>G c.*345C>G (n.*345C>G) c.1566-2608C>G (n.1566-2608C>G) c.1742C>G (p.Thr581Arg) c.944C>G (p.Thr315Arg) c.131C>G (p.Thr44Arg) c.-254-2608C>G (n.-254-2608C>G) | ClinVar dbSNP gnomAD v4 COSMIC |
16 | g.68819393C>A | CA396465351 | CDH1 | c.1679C>A (p.Thr560Lys) c.1496C>A (p.Thr499Lys) n.1750C>A c.*345C>A (n.*345C>A) c.1566-2608C>A (n.1566-2608C>A) c.1742C>A (p.Thr581Lys) c.944C>A (p.Thr315Lys) c.131C>A (p.Thr44Lys) c.-254-2608C>A (n.-254-2608C>A) | ClinVar dbSNP gnomAD v4 |
16 | g.68819393C>T | CA334001 | CDH1 | c.1679C>T (p.Thr560Met) c.1496C>T (p.Thr499Met) n.1750C>T c.*345C>T (n.*345C>T) c.1566-2608C>T (n.1566-2608C>T) c.1742C>T (p.Thr581Met) c.944C>T (p.Thr315Met) c.131C>T (p.Thr44Met) c.-254-2608C>T (n.-254-2608C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |