Table 3.
Whole Exome Sequencing (WES) results
| Gene | Variant | Homo% | Hetero% | HGVSc | HGVSp | Db SNP ID | |
| Cases | TP53 | G>G/C | 26 | 78 | NM _ 000546.5:c.215C>G | NP _ 000537.3:p. Arg 72 Pro | rs1042522 |
| Control | TP53 | G>G/C | 66 | 34 | NM _ 000546.5:c.215C>G | NP_000537.3:p. Arg 72 Pro | rs1042522 |
| Cases | CDH1 | C>C/T | 70 | 30 | NM_004360.3:c.48+6C>T | N/A | rs3743674 |
| Control | CDH1 | C>C/T | 75 | 25 | NM_004360.3:c.48+6C>T | N/A | rs3743674 |
| Cases | ATM, C11ORF65 |
A>G/G | 55 | 45 | NM _ 000051.3:c.5948A>G | NP _000042.3:p.Asn1983Ser | rs659243 |
| Control | ATM, C11ORF65 |
A>G/G | 52 | 48 | NM _ 000051.3:c.5948A>G | NP _000042.3:p.Asn1983Ser | rs659243 |