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. Author manuscript; available in PMC: 2019 Sep 17.
Published in final edited form as: J Pathol. 2019 Feb 20;247(5):574–588. doi: 10.1002/path.5229

Table 4.

MLH1 and MSH2 missense substitutions in the InSiGHT and gnomAD databases.

Variant class and source Missense substitution count Average sequence analysis-based
probability of pathogenicity

Class 4, 5 144 0.784
InSiGHTonly 135 0.790
InSiGHT and gnomAD 9 0.690
Class 3 1,299 0.391
InSiGHTonly 408 0.579
InSiGHT and gnomAD 176 0.388
gnomAD 891 0.306
Class 1, 2 45 0.260
InSiGHTonly 5 0.374
InSiGHT and gnomAD 40 0.246