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. 2019 Feb 7;14:29. doi: 10.1186/s13023-019-1010-z

Table 2.

In silico evaluation of five novel mutations

Gene DNA change Protein change Mutation taster PolyPhen-2 SIFT MAF (gnomAD)
RAF1 c.786 T > G p.N262K Disease-causing Probably damaging Deleterious
RAF1 c.788 T > G p.V263G Disease-causing Probably damaging Deleterious
BRAF c.1796C > T p.T599I Disease-causing Probably damaging Deleterious
LZTR1 c.509G > C p.R170P Disease-causing Probably damaging Deleterious
LZTR1 c.2374 T > G p.C792G Disease-causing Probably damaging Deleterious