Table 2.
CDH1 somatic variants of the patient 2.
| Gene | Location | Chromosome | Genomic position (hg19) | complementary DNA (cDNA) (NM_004360) | Protein (NP_004351) | VAF | Depth | The Single Nucleotide Polymorphism Database (dbSNP) | ClinVar | Varsome |
|---|---|---|---|---|---|---|---|---|---|---|
| CDH1 | upstream | chr16 | 68771034 | c.-285C>A | – | 0.17 | 1098 | rs16260 | Benign | Benign |
| CDH1 | intron 1 | chr16 | 68771372 | c.48+6C>T | – | 1.00 | 531 | rs3743674 | Benign | Benign |
| CDH1 | intron 1 | chr16 | 68771419 | c.48+62_48+63insCGTGCCCCAGCCC | – | 0.75 | 700 | rs45625236 | – | Benign |
| CDH1 | intron 12 | chr16 | 68857289 | c.1937-13T>C | – | 0.76 | 1267 | rs2276330 | Benign | Benign |
| CDH1 | exon 13 | chr16 | 68857441 | 2076T>C | p.(Ala692=) | 1.00 | 1847 | rs1801552 | Benign | Benign |
| CDH1 | exon 13 | chr16 | 68857479 | c.2114del | p.(Leu705CysfsTer17) | 0.67 | 1665 | – | – | Pathogenic |
| CDH1 | 3’UTR | chr16 | 68867456 | c.*54C>T | – | 0.68 | 464 | rs1801026 | Benign | Benign |