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Batch queries can be done using pipe "|" as a separator between search terms. Note: Direct classification on the basis of the prior probability alone is a misuse of the Bayesian integrated evaluation model, therefore the dynamic range of the prior probability (Prior P) has been truncated to a minimum of 0.10 and a maximum of 0.90 so that additional sources of information are required to reach posterior probabilities that alter clinical management of patients with variants.
LOVD - Variant listings for MLH1_priors

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RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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MAPP score Hide MAPP score column Descending
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Custom PP2.1 score Hide Custom PP2.1 score column Descending
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4 c.322A>G - p.S108G 9.08 0.999 0.5159 Thompson et al., 2013 DNA SEQ MLH1_00218
4 c.322A>T - p.S108C 20.41 1 0.8706 Thompson et al., 2013 DNA SEQ MLH1_00219
4 c.323G>A - p.S108N 14.09 0.999 0.7429 Thompson et al., 2013 DNA SEQ MLH1_00220
4 c.323G>C - p.S108T 13.44 0.999 0.7219 Thompson et al., 2013 DNA SEQ MLH1_00221
4 c.323G>T - p.S108I 29.33 1 0.9387 Thompson et al., 2013 DNA SEQ MLH1_00222
4 c.324C>A - p.S108R 36.37 1 0.9615 Thompson et al., 2013 DNA SEQ MLH1_00223
4 c.324C>G - p.S108R 36.37 1 0.9615 Thompson et al., 2013 DNA SEQ MLH1_00224
4 c.325C>A - p.H109N 17.77 0.999 0.8303 Thompson et al., 2013 DNA SEQ MLH1_00225
4 c.325C>G - p.H109D 36.64 0.999 0.962 Thompson et al., 2013 DNA SEQ MLH1_00226
4 c.325C>T - p.H109Y 18.27 0.896 0.7706 Thompson et al., 2013 DNA SEQ MLH1_00227
4 c.326A>C - p.H109P 43.5 0.999 0.9739 Thompson et al., 2013 DNA SEQ MLH1_00228
4 c.326A>G - p.H109R 31.55 0.999 0.9474 Thompson et al., 2013 DNA SEQ MLH1_00229
4 c.326A>T - p.H109L 25.24 0.999 0.9156 Thompson et al., 2013 DNA SEQ MLH1_00230
4 c.327T>A - p.H109Q 14.29 0.999 0.7489 Thompson et al., 2013 DNA SEQ MLH1_00231
4 c.327T>G - p.H109Q 14.29 0.999 0.7489 Thompson et al., 2013 DNA SEQ MLH1_00232
4 c.328G>A - p.V110M 24.43 0.999 0.9097 Thompson et al., 2013 DNA SEQ MLH1_00233
4 c.328G>C - p.V110L 20.81 0.981 0.8664 Thompson et al., 2013 DNA SEQ MLH1_00234
4 c.328G>T - p.V110L 20.81 0.981 0.8664 Thompson et al., 2013 DNA SEQ MLH1_00235
4 c.329T>A - p.V110E 32.45 0.999 0.9505 Thompson et al., 2013 DNA SEQ MLH1_00236
4 c.329T>C - p.V110A 27.75 0.997 0.9303 Thompson et al., 2013 DNA SEQ MLH1_00237
4 c.329T>G - p.V110G 23.22 0.999 0.8998 Thompson et al., 2013 DNA SEQ MLH1_00238
4 c.331G>A - p.A111T 33.24 0.989 0.951 Thompson et al., 2013 DNA SEQ MLH1_00239
4 c.331G>C - p.A111P 38.15 0.998 0.965 Thompson et al., 2013 DNA SEQ MLH1_00240
4 c.331G>T - p.A111S 23.39 0.851 0.8293 Thompson et al., 2013 DNA SEQ MLH1_00241
4 c.332C>A - p.A111D 43.15 0.997 0.9732 Thompson et al., 2013 DNA SEQ MLH1_00242
4 c.332C>G - p.A111G 22.29 0.996 0.8899 Thompson et al., 2013 DNA SEQ MLH1_00243
4 c.332C>T - p.A111V 35.49 0.993 0.9582 Thompson et al., 2013 DNA SEQ MLH1_00244
4 c.334C>A - p.H112N 17.77 0.995 0.8279 Thompson et al., 2013 DNA SEQ MLH1_00245
4 c.334C>G - p.H112D 36.64 0.996 0.9615 Thompson et al., 2013 DNA SEQ MLH1_00246
4 c.334C>T - p.H112Y 18.27 0.739 0.6325 Thompson et al., 2013 DNA SEQ MLH1_00247
4 c.335A>C - p.H112P 43.5 0.997 0.9737 Thompson et al., 2013 DNA SEQ MLH1_00248
4 c.335A>G - p.H112R 31.55 0.994 0.9463 Thompson et al., 2013 DNA SEQ MLH1_00249
4 c.335A>T - p.H112L 25.24 0.739 0.7819 Thompson et al., 2013 DNA SEQ MLH1_00250
4 c.336T>A - p.H112Q 14.29 0.994 0.7449 Thompson et al., 2013 DNA SEQ MLH1_00251
4 c.336T>G - p.H112Q 14.29 0.994 0.7449 Thompson et al., 2013 DNA SEQ MLH1_00252
4 c.337G>A - p.V113I 4.69 0.735 0.0717 Thompson et al., 2013 DNA SEQ MLH1_00253
4 c.337G>C - p.V113L 8.71 0.125 0.0229 Thompson et al., 2013 DNA SEQ MLH1_00254
4 c.337G>T - p.V113F 10.71 0.445 0.1277 Thompson et al., 2013 DNA SEQ MLH1_00255
4 c.338T>A - p.V113D 36.33 0.987 0.9593 Thompson et al., 2013 DNA SEQ MLH1_00256
4 c.338T>C - p.V113A 12.99 0.923 0.6348 Thompson et al., 2013 DNA SEQ MLH1_00257
4 c.338T>G - p.V113G 15.19 0.987 0.765 Thompson et al., 2013 DNA SEQ MLH1_00258
4 c.340A>C - p.T114P 32.45 0.867 0.9162 Thompson et al., 2013 DNA SEQ MLH1_00259
4 c.340A>G - p.T114A 26.6 0.063 0.1848 Thompson et al., 2013 DNA SEQ MLH1_00260
4 c.340A>T - p.T114S 3.58 0.063 0.0024 Thompson et al., 2013 DNA SEQ MLH1_00261
4 c.341C>A - p.T114N 10.92 0.797 0.4066 Thompson et al., 2013 DNA SEQ MLH1_00262
4 c.341C>G - p.T114S 3.58 0.063 0.0024 Thompson et al., 2013 DNA SEQ MLH1_00263
4 c.341C>T - p.T114I 34.37 0.375 0.6051 Thompson et al., 2013 DNA SEQ MLH1_00264
4 c.343A>C - p.I115L 10.17 0.83 0.4015 Thompson et al., 2013 DNA SEQ MLH1_00265
4 c.343A>G - p.I115V 5.74 0.252 0.0154 Thompson et al., 2013 DNA SEQ MLH1_00266
4 c.343A>T - p.I115F 8.74 0.979 0.473 Thompson et al., 2013 DNA SEQ MLH1_00267
4 c.344T>A - p.I115N 15.4 0.99 0.7728 Thompson et al., 2013 DNA SEQ MLH1_00268
4 c.344T>C - p.I115T 14.28 0.95 0.7074 Thompson et al., 2013 DNA SEQ MLH1_00269
4 c.344T>G - p.I115S 13.52 0.979 0.7072 Thompson et al., 2013 DNA SEQ MLH1_00270
4 c.345T>G - p.I115M 14.85 0.961 0.7346 Thompson et al., 2013 DNA SEQ MLH1_00271
4 c.346A>C - p.T116P 18.02 0.974 0.8195 Thompson et al., 2013 DNA SEQ MLH1_00272
4 c.346A>G - p.T116A 11.41 0.859 0.4964 Thompson et al., 2013 DNA SEQ MLH1_00273
4 c.346A>T - p.T116S 3.63 0.9 0.0802 Thompson et al., 2013 DNA SEQ MLH1_00274
4 c.347C>A - p.T116K 31.66 0.943 0.9346 Thompson et al., 2013 DNA SEQ MLH1_00275
4 c.347C>G - p.T116R 37.18 0.985 0.961 Thompson et al., 2013 DNA SEQ MLH1_00276
4 c.347C>T - p.T116I 7.03 0.701 0.1435 Thompson et al., 2013 DNA SEQ MLH1_00277
4 c.349A>C - p.T117P 31.64 0.979 0.9433 Thompson et al., 2013 DNA SEQ MLH1_00278
4 c.349A>G - p.T117A 25.46 0.95 0.8998 Thompson et al., 2013 DNA SEQ MLH1_00279
4 c.349A>T - p.T117S 2.88 0.446 0.0074 Thompson et al., 2013 DNA SEQ MLH1_00280
4 c.350C>A - p.T117K 27.45 0.979 0.9234 Thompson et al., 2013 DNA SEQ MLH1_00281
4 c.350C>G - p.T117R 32.95 0.979 0.9481 Thompson et al., 2013 DNA SEQ MLH1_00282
4 c.350C>T - p.T117M 22.95 0.988 0.893 Thompson et al., 2013 DNA SEQ MLH1_00283
4 c.352A>C - p.K118Q 10.61 0.974 0.577 Thompson et al., 2013 DNA SEQ MLH1_00284
4 c.352A>G - p.K118E 19.95 0.937 0.8301 Thompson et al., 2013 DNA SEQ MLH1_00285
4 c.353A>C - p.K118T 22.33 0.979 0.883 Thompson et al., 2013 DNA SEQ MLH1_00286
4 c.353A>G - p.K118R 2.57 0.441 0.0056 Thompson et al., 2013 DNA SEQ MLH1_00287
4 c.353A>T - p.K118I 26.32 0.985 0.9183 Thompson et al., 2013 DNA SEQ MLH1_00288
4 c.354A>C - p.K118N 12.6 0.974 0.6683 Thompson et al., 2013 DNA SEQ MLH1_00289
4 c.354A>T - p.K118N 12.6 0.974 0.6683 Thompson et al., 2013 DNA SEQ MLH1_00290
4 c.355A>C - p.T119P 43.72 1 0.9743 Thompson et al., 2013 DNA SEQ MLH1_00291
4 c.355A>G - p.T119A 37.99 1 0.965 Thompson et al., 2013 DNA SEQ MLH1_00292
4 c.355A>T - p.T119S 11.33 1 0.6388 Thompson et al., 2013 DNA SEQ MLH1_00293
4 c.356C>A - p.T119K 34.43 1 0.9566 Thompson et al., 2013 DNA SEQ MLH1_00294
4 c.356C>G - p.T119R 37.76 1 0.9645 Thompson et al., 2013 DNA SEQ MLH1_00295
4 c.356C>T - p.T119I 33.48 1 0.9539 Thompson et al., 2013 DNA SEQ MLH1_00296
4 c.358G>A - p.A120T 20.31 0.32 0.2686 Thompson et al., 2013 DNA SEQ MLH1_00297
4 c.358G>C - p.A120P 20.1 0.153 0.1497 Thompson et al., 2013 DNA SEQ MLH1_00298
4 c.358G>T - p.A120S 9.53 0.036 0.0193 Thompson et al., 2013 DNA SEQ MLH1_00299
4 c.359C>A - p.A120D 9.36 0.081 0.0224 Thompson et al., 2013 DNA SEQ MLH1_00300
4 c.359C>G - p.A120G 7.23 0.444 0.0564 Thompson et al., 2013 DNA SEQ MLH1_00301
4 c.359C>T - p.A120V 31.37 0.081 0.2625 Thompson et al., 2013 DNA SEQ MLH1_00302
4 c.361G>A - p.D121N 4.23 0.074 0.0036 Thompson et al., 2013 DNA SEQ MLH1_00303
4 c.361G>C - p.D121H 5.43 0.064 0.0061 Thompson et al., 2013 DNA SEQ MLH1_00304
4 c.361G>T - p.D121Y 7.75 0.566 0.1052 Thompson et al., 2013 DNA SEQ MLH1_00305
4 c.362A>C - p.D121A 20.58 0.118 0.138 Thompson et al., 2013 DNA SEQ MLH1_00306
4 c.362A>G - p.D121G 10.51 0.074 0.0281 Thompson et al., 2013 DNA SEQ MLH1_00307
4 c.362A>T - p.D121V 30.24 0.487 0.6487 Thompson et al., 2013 DNA SEQ MLH1_00308
4 c.363T>A - p.D121E 3.93 0.022 0.0025 Thompson et al., 2013 DNA SEQ MLH1_00309
4 c.363T>G - p.D121E 3.93 0.022 0.0025 Thompson et al., 2013 DNA SEQ MLH1_00310
4 c.364G>A - p.G122R 40.02 0.173 0.478 Thompson et al., 2013 DNA SEQ MLH1_00311
4 c.364G>C - p.G122R 40.02 0.173 0.478 Thompson et al., 2013 DNA SEQ MLH1_00312
4 c.365G>A - p.G122E 36.24 0.005 0.2633 Thompson et al., 2013 DNA SEQ MLH1_00313
4 c.365G>C - p.G122A 5.24 0.002 0.0044 Thompson et al., 2013 DNA SEQ MLH1_00314
4 c.365G>T - p.G122V 10.96 0.067 0.0299 Thompson et al., 2013 DNA SEQ MLH1_00315
4 c.367A>C - p.K123Q 2.79 0.681 0.0185 Thompson et al., 2013 DNA SEQ MLH1_00316
4 c.367A>G - p.K123E 6.6 0.892 0.2467 Thompson et al., 2013 DNA SEQ MLH1_00317
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Note: Direct classification on the basis of the prior probability alone is a misuse of the Bayesian integrated evaluation model, therefore the dynamic range of the prior probability (Prior P) has been truncated to a minimum of 0.10 and a maximum of 0.90 so that additional sources of information are required to reach posterior probabilities that alter clinical management of patients with variants.

Legend: [ MLH1_priors full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. MAPP score: output score from MAPP Custom PP2.1 score: Custom PolyPhen 2.1 score MAPP/PP2 Prior P: MAPP/PP2 Prior probability of pathogenicity Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. MLH1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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