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. 2022 Sep;22(3):145–154. doi: 10.4314/ahs.v22i3.17

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