Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.68829788del | CA197715 | CDH1 | c.2430del (p.Phe810LeufsTer6) c.2247del (p.Phe749LeufsTer6) n.648del n.2501del c.*1096del (n.*1096del) c.*670del (n.*670del) c.2493del (p.Phe831LeufsTer6) c.1853+3234del (n.1853+3234del) c.1866-4415del (n.1866-4415del) c.1695del (p.Phe565LeufsTer6) c.882del (p.Phe294LeufsTer6) c.465del (p.Phe155LeufsTer6) | ClinVar dbSNP gnomAD v4 |
16 | g.68829788dup | CA2573152660 | CDH1 | c.2430dup (p.Ile811TyrfsTer2) c.2247dup (p.Ile750TyrfsTer2) n.648dup n.2501dup c.*1096dup (n.*1096dup) c.*670dup (n.*670dup) c.2493dup (p.Ile832TyrfsTer2) c.1853+3234dup (n.1853+3234dup) c.1866-4415dup (n.1866-4415dup) c.1695dup (p.Ile566TyrfsTer2) c.882dup (p.Ile295TyrfsTer2) c.465dup (p.Ile156TyrfsTer2) | ClinVar dbSNP |