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. 2021 Sep 20;11:18594. doi: 10.1038/s41598-021-98084-8

Table 2.

Altered variants of SKAT-O Significant Genes (DICER1, LRP1B) in paired samples.

Gene P Value Chromosome Position REF Alt Amino acid SIFT Polyphen2 CADD
DICER1 0.010 14 95,560,248 C T p.E1781K 0.1 0.818 23
14 95,562,263 C T p.G1665E 0 0.916 29.4
14 95,570,303 C T p.E1144K 0.03 0.19 20.4
14 95,577,763 C T p.G716E 0.002 0.832 34
LRP1B 0.021 2 141,128,318 C T p.D3657N 0.02 0.832 26.6
2 141,242,964 C A p.V3125F 0.01 0.312 33
2 141,763,012 G A p.R799X 1 NA 38
2 141,986,887 C T p.D239N 0 0.08 26.9
2 142,012,117 A T p.I146K 0.01 0.184 23.6

Ref reference base, Alt alternative base, SIFT sorting intolerant from tolerant, CADD combined annotation dependent depletion.