Table 2.
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.