| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.68819424T>C | CA8130124 | CDH1 | c.1710T>C (p.Asn570=) c.1527T>C (p.Asn509=) n.1781T>C c.*376T>C (n.*376T>C) c.1566-2577T>C (n.1566-2577T>C) c.1773T>C (p.Asn591=) c.975T>C (p.Asn325=) c.162T>C (p.Asn54=) c.-254-2577T>C (n.-254-2577T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.68819424T= | CA2229978184 | CDH1 | c.1710T= (p.Asn570=) c.1527T= (p.Asn509=) n.1781T= c.*376T= (n.*376T=) c.1566-2577T= (n.1566-2577T=) c.1773T= (p.Asn591=) c.975T= (p.Asn325=) c.162T= (p.Asn54=) c.-254-2577T= (n.-254-2577T=) | dbSNP dbSNP |
| 16 | g.68819424T>A | CA396465463 | CDH1 | c.1710T>A (p.Asn570Lys) c.1527T>A (p.Asn509Lys) n.1781T>A c.*376T>A (n.*376T>A) c.1566-2577T>A (n.1566-2577T>A) c.1773T>A (p.Asn591Lys) c.975T>A (p.Asn325Lys) c.162T>A (p.Asn54Lys) c.-254-2577T>A (n.-254-2577T>A) | ClinVar dbSNP gnomAD v4 |