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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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MAPP score Hide MAPP score column Descending
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7 c.553G>C - p.V185L 5.28 0.009 0.0046 Thompson et al., 2013 DNA SEQ MLH1_01201
7 c.553G>T - p.V185L 5.28 0.009 0.0046 Thompson et al., 2013 DNA SEQ MLH1_01202
7 c.554T>A - p.V185E 31.44 0.476 0.6581 Thompson et al., 2013 DNA SEQ MLH1_01203
7 c.554T>C - p.V185A 12.82 0.128 0.054 Thompson et al., 2013 DNA SEQ MLH1_01204
7 c.554T>G - p.V185G 16.68 0.476 0.3135 Thompson et al., 2013 DNA SEQ MLH1_01205
7 c.556C>A - p.H186N 17.77 0.998 0.8297 Thompson et al., 2013 DNA SEQ MLH1_01206
7 c.556C>G - p.H186D 36.64 0.998 0.9618 Thompson et al., 2013 DNA SEQ MLH1_01207
7 c.556C>T - p.H186Y 18.27 0.998 0.8384 Thompson et al., 2013 DNA SEQ MLH1_01208
7 c.557A>C - p.H186P 43.5 0.998 0.9738 Thompson et al., 2013 DNA SEQ MLH1_01209
7 c.557A>G - p.H186R 31.55 0.998 0.9472 Thompson et al., 2013 DNA SEQ MLH1_01210
7 c.557A>T - p.H186L 25.24 0.998 0.9153 Thompson et al., 2013 DNA SEQ MLH1_01211
7 c.558C>A - p.H186Q 14.29 0.998 0.7481 Thompson et al., 2013 DNA SEQ MLH1_01212
7 c.558C>G - p.H186Q 14.29 0.998 0.7481 Thompson et al., 2013 DNA SEQ MLH1_01213
7 c.559A>C - p.N187H 12.37 0.994 0.6779 Thompson et al., 2013 DNA SEQ MLH1_01214
7 c.559A>G - p.N187D 25.44 0.989 0.9137 Thompson et al., 2013 DNA SEQ MLH1_01215
7 c.559A>T - p.N187Y 4.54 0.994 0.1778 Thompson et al., 2013 DNA SEQ MLH1_01216
7 c.560A>C - p.N187T 4.48 0.986 0.1686 Thompson et al., 2013 DNA SEQ MLH1_01217
7 c.560A>G - p.N187S 4.29 0.969 0.146 Thompson et al., 2013 DNA SEQ MLH1_01218
7 c.560A>T - p.N187I 15.14 0.994 0.769 Thompson et al., 2013 DNA SEQ MLH1_01219
7 c.561T>A - p.N187K 24.62 0.977 0.9033 Thompson et al., 2013 DNA SEQ MLH1_01220
7 c.561T>G - p.N187K 24.62 0.977 0.9033 Thompson et al., 2013 DNA SEQ MLH1_01221
7 c.562G>A - p.A188T 4.83 0.003 0.0036 Thompson et al., 2013 DNA SEQ MLH1_01222
7 c.562G>C - p.A188P 10.04 0.001 0.0187 Thompson et al., 2013 DNA SEQ MLH1_01223
7 c.562G>T - p.A188S 1.85 - 0.0004 Thompson et al., 2013 DNA SEQ MLH1_01224
7 c.563C>A - p.A188E 35.7 0.006 0.2575 Thompson et al., 2013 DNA SEQ MLH1_01225
7 c.563C>G - p.A188G 3.31 0.027 0.0017 Thompson et al., 2013 DNA SEQ MLH1_01226
7 c.563C>T - p.A188V 6.73 0.032 0.0087 Thompson et al., 2013 DNA SEQ MLH1_01227
7 c.565G>A - p.G189S 7.5 0.051 0.012 Thompson et al., 2013 DNA SEQ MLH1_01228
7 c.565G>C - p.G189R 36.52 0.247 0.5048 Thompson et al., 2013 DNA SEQ MLH1_01229
7 c.565G>T - p.G189C 19.13 0.874 0.7725 Thompson et al., 2013 DNA SEQ MLH1_01230
7 c.566G>A - p.G189D 35.86 0.162 0.4051 Thompson et al., 2013 DNA SEQ MLH1_01231
7 c.566G>C - p.G189A 22.05 0.326 0.3123 Thompson et al., 2013 DNA SEQ MLH1_01232
7 c.566G>T - p.G189V 29.36 0.698 0.8093 Thompson et al., 2013 DNA SEQ MLH1_01233
7 c.568A>C - p.I190L 4.48 0.041 0.0036 Thompson et al., 2013 DNA SEQ MLH1_01234
7 c.568A>G - p.I190V 2.25 - 0.0006 Thompson et al., 2013 DNA SEQ MLH1_01235
7 c.568A>T - p.I190F 4.03 0.262 0.0072 Thompson et al., 2013 DNA SEQ MLH1_01236
7 c.569T>A - p.I190N 4.28 0.262 0.0083 Thompson et al., 2013 DNA SEQ MLH1_01237
7 c.569T>C - p.I190T 5.01 0.005 0.004 Thompson et al., 2013 DNA SEQ MLH1_01238
7 c.569T>G - p.I190S 5.99 0.048 0.0072 Thompson et al., 2013 DNA SEQ MLH1_01239
7 c.570T>G - p.I190M 5.72 0.163 0.0105 Thompson et al., 2013 DNA SEQ MLH1_01240
7 c.571A>C - p.S191R 40.19 0.179 0.4868 Thompson et al., 2013 DNA SEQ MLH1_01241
7 c.571A>G - p.S191G 2.02 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_01242
7 c.571A>T - p.S191C 7.05 0.011 0.0088 Thompson et al., 2013 DNA SEQ MLH1_01243
7 c.572G>A - p.S191N 13.8 0.067 0.0494 Thompson et al., 2013 DNA SEQ MLH1_01244
7 c.572G>C - p.S191T 7.75 0.074 0.0143 Thompson et al., 2013 DNA SEQ MLH1_01245
7 c.572G>T - p.S191I 9.34 0.179 0.0334 Thompson et al., 2013 DNA SEQ MLH1_01246
7 c.573T>A - p.S191R 40.19 0.179 0.4868 Thompson et al., 2013 DNA SEQ MLH1_01247
7 c.573T>G - p.S191R 40.19 0.179 0.4868 Thompson et al., 2013 DNA SEQ MLH1_01248
7 c.574T>A - p.F192I 10.86 0.08 0.0309 Thompson et al., 2013 DNA SEQ MLH1_01249
7 c.574T>C - p.F192L 12.82 0.151 0.0592 Thompson et al., 2013 DNA SEQ MLH1_01250
7 c.574T>G - p.F192V 17.61 0.46 0.3254 Thompson et al., 2013 DNA SEQ MLH1_01251
7 c.575T>A - p.F192Y 16.28 0.857 0.6865 Thompson et al., 2013 DNA SEQ MLH1_01252
7 c.575T>C - p.F192S 19.43 0.829 0.7439 Thompson et al., 2013 DNA SEQ MLH1_01253
7 c.575T>G - p.F192C 17.91 0.916 0.7776 Thompson et al., 2013 DNA SEQ MLH1_01254
7 c.576C>A - p.F192L 12.82 0.151 0.0592 Thompson et al., 2013 DNA SEQ MLH1_01255
7 c.576C>G - p.F192L 12.82 0.151 0.0592 Thompson et al., 2013 DNA SEQ MLH1_01256
7 c.577T>A - p.S193T 1.36 0.006 0.0002 Thompson et al., 2013 DNA SEQ MLH1_01257
7 c.577T>C - p.S193P 29.83 0.557 0.707 Thompson et al., 2013 DNA SEQ MLH1_01258
7 c.577T>G - p.S193A 23.64 0.208 0.2434 Thompson et al., 2013 DNA SEQ MLH1_01259
7 c.578C>T - p.S193L 32.22 0.097 0.2882 Thompson et al., 2013 DNA SEQ MLH1_01260
7 c.580G>A - p.V194I 1.42 0.09 0.0003 Thompson et al., 2013 DNA SEQ MLH1_01261
7 c.580G>C - p.V194L 3.19 0.003 0.0014 Thompson et al., 2013 DNA SEQ MLH1_01262
7 c.580G>T - p.V194F 7.47 0.55 0.0918 Thompson et al., 2013 DNA SEQ MLH1_01263
7 c.581T>A - p.V194D 39.17 0.825 0.9334 Thompson et al., 2013 DNA SEQ MLH1_01264
7 c.581T>C - p.V194A 8.87 0.204 0.033 Thompson et al., 2013 DNA SEQ MLH1_01265
7 c.581T>G - p.V194G 15.06 0.774 0.5631 Thompson et al., 2013 DNA SEQ MLH1_01266
7 c.583A>C - p.K195Q 11.39 0.986 0.6278 Thompson et al., 2013 DNA SEQ MLH1_01267
7 c.583A>G - p.K195E 21.03 0.981 0.8691 Thompson et al., 2013 DNA SEQ MLH1_01268
7 c.584A>C - p.K195T 24.57 0.992 0.9083 Thompson et al., 2013 DNA SEQ MLH1_01269
7 c.584A>G - p.K195R 4.25 0.597 0.0332 Thompson et al., 2013 DNA SEQ MLH1_01270
7 c.584A>T - p.K195I 27.32 0.994 0.9271 Thompson et al., 2013 DNA SEQ MLH1_01271
7 c.585A>C - p.K195N 13.1 0.992 0.7039 Thompson et al., 2013 DNA SEQ MLH1_01272
7 c.585A>T - p.K195N 13.1 0.992 0.7039 Thompson et al., 2013 DNA SEQ MLH1_01273
7 c.586A>C - p.K196Q 14.08 0.999 0.7426 Thompson et al., 2013 DNA SEQ MLH1_01274
7 c.586A>G - p.K196E 23.7 0.999 0.9039 Thompson et al., 2013 DNA SEQ MLH1_01275
7 c.587A>C - p.K196T 27.99 0.999 0.9321 Thompson et al., 2013 DNA SEQ MLH1_01276
7 c.587A>G - p.K196R 7.31 0.999 0.3944 Thompson et al., 2013 DNA SEQ MLH1_01277
7 c.587A>T - p.K196I 25.96 0.999 0.9204 Thompson et al., 2013 DNA SEQ MLH1_01278
7 c.588A>C - p.K196N 14.55 0.999 0.7566 Thompson et al., 2013 DNA SEQ MLH1_01279
7 c.588A>T - p.K196N 14.55 0.999 0.7566 Thompson et al., 2013 DNA SEQ MLH1_01280
8 c.589C>A - p.Q197K 23.33 0.219 0.2465 Thompson et al., 2013 DNA SEQ MLH1_01281
8 c.589C>G - p.Q197E 23.57 0.219 0.2509 Thompson et al., 2013 DNA SEQ MLH1_01282
8 c.590A>C - p.Q197P 11.83 0.431 0.1473 Thompson et al., 2013 DNA SEQ MLH1_01283
8 c.590A>G - p.Q197R 23.27 0.407 0.4202 Thompson et al., 2013 DNA SEQ MLH1_01284
8 c.590A>T - p.Q197L 7.54 0.017 0.0105 Thompson et al., 2013 DNA SEQ MLH1_01285
8 c.591A>C - p.Q197H 11.11 0.03 0.0264 Thompson et al., 2013 DNA SEQ MLH1_01286
8 c.591A>T - p.Q197H 11.11 0.03 0.0264 Thompson et al., 2013 DNA SEQ MLH1_01287
8 c.592G>A - p.G198R 36.52 0.965 0.956 Thompson et al., 2013 DNA SEQ MLH1_01288
8 c.592G>C - p.G198R 36.52 0.965 0.956 Thompson et al., 2013 DNA SEQ MLH1_01289
8 c.593G>A - p.G198E 35.36 0.685 0.8596 Thompson et al., 2013 DNA SEQ MLH1_01290
8 c.593G>C - p.G198A 22.05 0.977 0.8791 Thompson et al., 2013 DNA SEQ MLH1_01291
8 c.593G>T - p.G198V 29.36 0.979 0.9335 Thompson et al., 2013 DNA SEQ MLH1_01292
8 c.595G>A - p.E199K 18.27 0.792 0.6833 Thompson et al., 2013 DNA SEQ MLH1_01293
8 c.595G>C - p.E199Q 13.82 0.839 0.5831 Thompson et al., 2013 DNA SEQ MLH1_01294
8 c.596A>C - p.E199A 23.05 0.792 0.7852 Thompson et al., 2013 DNA SEQ MLH1_01295
8 c.596A>G - p.E199G 18.76 0.792 0.6961 Thompson et al., 2013 DNA SEQ MLH1_01296
8 c.596A>T - p.E199V 25.11 0.839 0.8443 Thompson et al., 2013 DNA SEQ MLH1_01297
8 c.597G>C - p.E199D 3.74 0.082 0.0029 Thompson et al., 2013 DNA SEQ MLH1_01298
8 c.597G>T - p.E199D 3.74 0.082 0.0029 Thompson et al., 2013 DNA SEQ MLH1_01299
8 c.598A>C - p.T200P 8.75 0.007 0.0141 Thompson et al., 2013 DNA SEQ MLH1_01300
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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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