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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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Exon Hide Exon column Descending
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DNA change   Descending
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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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MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
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11 c.1007G>A - p.G336D 37.39 0.916 0.949 Thompson et al., 2013 DNA SEQ MLH1_02201
11 c.1007G>C - p.G336A 16.87 0.531 0.3719 Thompson et al., 2013 DNA SEQ MLH1_02202
11 c.1007G>T - p.G336V 24.7 0.916 0.8789 Thompson et al., 2013 DNA SEQ MLH1_02203
11 c.1009T>A - p.S337T 2.71 0.009 0.001 Thompson et al., 2013 DNA SEQ MLH1_02204
11 c.1009T>C - p.S337P 12.06 0.234 0.0724 Thompson et al., 2013 DNA SEQ MLH1_02205
11 c.1009T>G - p.S337A 7.07 0.003 0.0086 Thompson et al., 2013 DNA SEQ MLH1_02206
11 c.1010C>A - p.S337Y 10.02 0.415 0.0997 Thompson et al., 2013 DNA SEQ MLH1_02207
11 c.1010C>G - p.S337C 1.47 0.004 0.0002 Thompson et al., 2013 DNA SEQ MLH1_02208
11 c.1010C>T - p.S337F 11.13 0.415 0.1232 Thompson et al., 2013 DNA SEQ MLH1_02209
11 c.1012A>C - p.N338H 9.64 0.809 0.3521 Thompson et al., 2013 DNA SEQ MLH1_02210
11 c.1012A>G - p.N338D 5.84 0.063 0.0072 Thompson et al., 2013 DNA SEQ MLH1_02211
11 c.1012A>T - p.N338Y 18.95 0.809 0.7159 Thompson et al., 2013 DNA SEQ MLH1_02212
11 c.1013A>C - p.N338T 13.59 0.489 0.2326 Thompson et al., 2013 DNA SEQ MLH1_02213
11 c.1013A>G - p.N338S 11.62 0.032 0.0294 Thompson et al., 2013 DNA SEQ MLH1_02214
11 c.1013A>T - p.N338I 30.09 0.878 0.9062 Thompson et al., 2013 DNA SEQ MLH1_02215
11 c.1014T>A - p.N338K 11.95 0.586 0.255 Thompson et al., 2013 DNA SEQ MLH1_02216
11 c.1014T>G - p.N338K 11.95 0.586 0.255 Thompson et al., 2013 DNA SEQ MLH1_02217
11 c.1015T>A - p.S339T 3.77 0.003 0.0021 Thompson et al., 2013 DNA SEQ MLH1_02218
11 c.1015T>C - p.S339P 31.1 0.32 0.4914 Thompson et al., 2013 DNA SEQ MLH1_02219
11 c.1015T>G - p.S339A 24.53 0.003 0.1275 Thompson et al., 2013 DNA SEQ MLH1_02220
11 c.1016C>A - p.S339Y 10.56 0.383 0.0982 Thompson et al., 2013 DNA SEQ MLH1_02221
11 c.1016C>G - p.S339C 19.77 0.383 0.3112 Thompson et al., 2013 DNA SEQ MLH1_02222
11 c.1016C>T - p.S339F 22.69 0.32 0.3208 Thompson et al., 2013 DNA SEQ MLH1_02223
11 c.1018T>A - p.S340T 13.44 0.247 0.0954 Thompson et al., 2013 DNA SEQ MLH1_02224
11 c.1018T>C - p.S340P 39.26 0.948 0.9597 Thompson et al., 2013 DNA SEQ MLH1_02225
11 c.1018T>G - p.S340A 28.89 0.626 0.7506 Thompson et al., 2013 DNA SEQ MLH1_02226
11 c.1019C>A - p.S340Y 23.48 0.96 0.8864 Thompson et al., 2013 DNA SEQ MLH1_02227
11 c.1019C>G - p.S340C 20.41 0.976 0.8587 Thompson et al., 2013 DNA SEQ MLH1_02228
11 c.1019C>T - p.S340F 21.57 0.976 0.8732 Thompson et al., 2013 DNA SEQ MLH1_02229
11 c.1021A>G - p.R341G 25.9 0.998 0.9197 Thompson et al., 2013 DNA SEQ MLH1_02230
11 c.1021A>T - p.R341W 22.31 0.999 0.8913 Thompson et al., 2013 DNA SEQ MLH1_02231
11 c.1022G>A - p.R341K 6.07 0.988 0.2896 Thompson et al., 2013 DNA SEQ MLH1_02232
11 c.1022G>C - p.R341T 26.48 0.995 0.9224 Thompson et al., 2013 DNA SEQ MLH1_02233
11 c.1022G>T - p.R341M 15.78 0.996 0.7867 Thompson et al., 2013 DNA SEQ MLH1_02234
11 c.1023G>C - p.R341S 21.57 0.998 0.8832 Thompson et al., 2013 DNA SEQ MLH1_02235
11 c.1023G>T - p.R341S 21.57 0.998 0.8832 Thompson et al., 2013 DNA SEQ MLH1_02236
11 c.1024A>C - p.M342L 6.77 0.003 0.0078 Thompson et al., 2013 DNA SEQ MLH1_02237
11 c.1024A>G - p.M342V 14.55 - 0.0422 Thompson et al., 2013 DNA SEQ MLH1_02238
11 c.1024A>T - p.M342L 6.77 0.003 0.0078 Thompson et al., 2013 DNA SEQ MLH1_02239
11 c.1025T>A - p.M342K 30.37 0.008 0.1951 Thompson et al., 2013 DNA SEQ MLH1_02240
11 c.1025T>C - p.M342T 2.45 - 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02241
11 c.1025T>G - p.M342R 30.65 0.014 0.2025 Thompson et al., 2013 DNA SEQ MLH1_02242
11 c.1026G>A - p.M342I 10.72 0.001 0.0216 Thompson et al., 2013 DNA SEQ MLH1_02243
11 c.1026G>C - p.M342I 10.72 0.001 0.0216 Thompson et al., 2013 DNA SEQ MLH1_02244
11 c.1026G>T - p.M342I 10.72 0.001 0.0216 Thompson et al., 2013 DNA SEQ MLH1_02245
11 c.1027T>A - p.Y343N 20.84 0.821 0.7669 Thompson et al., 2013 DNA SEQ MLH1_02246
11 c.1027T>C - p.Y343H 17.26 0.731 0.5939 Thompson et al., 2013 DNA SEQ MLH1_02247
11 c.1027T>G - p.Y343D 27.67 0.821 0.8623 Thompson et al., 2013 DNA SEQ MLH1_02248
11 c.1028A>C - p.Y343S 16.76 0.665 0.508 Thompson et al., 2013 DNA SEQ MLH1_02249
11 c.1028A>G - p.Y343C 14.55 0.858 0.6302 Thompson et al., 2013 DNA SEQ MLH1_02250
11 c.1028A>T - p.Y343F 3.43 0.009 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02251
11 c.1030T>A - p.F344I 8.41 0.307 0.0449 Thompson et al., 2013 DNA SEQ MLH1_02252
11 c.1030T>C - p.F344L 11.02 0.016 0.0245 Thompson et al., 2013 DNA SEQ MLH1_02253
11 c.1030T>G - p.F344V 15.21 0.308 0.1533 Thompson et al., 2013 DNA SEQ MLH1_02254
11 c.1031T>A - p.F344Y 4.5 0.009 0.0032 Thompson et al., 2013 DNA SEQ MLH1_02255
11 c.1031T>C - p.F344S 16.36 0.396 0.2371 Thompson et al., 2013 DNA SEQ MLH1_02256
11 c.1031T>G - p.F344C 15.37 0.685 0.4802 Thompson et al., 2013 DNA SEQ MLH1_02257
11 c.1032C>A - p.F344L 11.02 0.016 0.0245 Thompson et al., 2013 DNA SEQ MLH1_02258
11 c.1032C>G - p.F344L 11.02 0.016 0.0245 Thompson et al., 2013 DNA SEQ MLH1_02259
11 c.1033A>C - p.T345P 15.68 0.838 0.6497 Thompson et al., 2013 DNA SEQ MLH1_02260
11 c.1033A>G - p.T345A 12.19 0.243 0.0767 Thompson et al., 2013 DNA SEQ MLH1_02261
11 c.1033A>T - p.T345S 3.81 0.456 0.0145 Thompson et al., 2013 DNA SEQ MLH1_02262
11 c.1034C>A - p.T345N 10.29 0.79 0.3675 Thompson et al., 2013 DNA SEQ MLH1_02263
11 c.1034C>G - p.T345S 3.81 0.456 0.0145 Thompson et al., 2013 DNA SEQ MLH1_02264
11 c.1034C>T - p.T345I 8.38 0.243 0.0343 Thompson et al., 2013 DNA SEQ MLH1_02265
11 c.1036C>A - p.Q346K 27.25 0.56 0.6655 Thompson et al., 2013 DNA SEQ MLH1_02266
11 c.1036C>G - p.Q346E 26.89 0.944 0.9084 Thompson et al., 2013 DNA SEQ MLH1_02267
11 c.1037A>C - p.Q346P 39.94 0.986 0.9668 Thompson et al., 2013 DNA SEQ MLH1_02268
11 c.1037A>G - p.Q346R 33.7 0.969 0.9485 Thompson et al., 2013 DNA SEQ MLH1_02269
11 c.1037A>T - p.Q346L 19.88 0.992 0.8597 Thompson et al., 2013 DNA SEQ MLH1_02270
11 c.1038G>C - p.Q346H 14.36 0.989 0.743 Thompson et al., 2013 DNA SEQ MLH1_02271
11 c.1038G>T - p.Q346H 14.36 0.989 0.743 Thompson et al., 2013 DNA SEQ MLH1_02272
12 c.1039A>C - p.T347P 7.33 0.591 0.1033 Thompson et al., 2013 DNA SEQ MLH1_02273
12 c.1039A>G - p.T347A 3.41 0.017 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02274
12 c.1039A>T - p.T347S 1.83 0.029 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02275
12 c.1040C>A - p.T347N 2.46 0.513 0.0069 Thompson et al., 2013 DNA SEQ MLH1_02276
12 c.1040C>G - p.T347S 1.83 0.029 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02277
12 c.1040C>T - p.T347I 4.44 0.257 0.0088 Thompson et al., 2013 DNA SEQ MLH1_02278
12 c.1042T>A - p.L348M 10.65 0.759 0.3551 Thompson et al., 2013 DNA SEQ MLH1_02279
12 c.1042T>G - p.L348V 25.8 0.067 0.1771 Thompson et al., 2013 DNA SEQ MLH1_02280
12 c.1043T>C - p.L348S 22.76 0.636 0.6464 Thompson et al., 2013 DNA SEQ MLH1_02281
12 c.1043T>G - p.L348W 22.06 0.898 0.8387 Thompson et al., 2013 DNA SEQ MLH1_02282
12 c.1044G>C - p.L348F 12.59 0.067 0.0405 Thompson et al., 2013 DNA SEQ MLH1_02283
12 c.1044G>T - p.L348F 12.59 0.067 0.0405 Thompson et al., 2013 DNA SEQ MLH1_02284
12 c.1045C>A - p.L349I 15.46 0.695 0.4941 Thompson et al., 2013 DNA SEQ MLH1_02285
12 c.1045C>G - p.L349V 25.8 0.898 0.8812 Thompson et al., 2013 DNA SEQ MLH1_02286
12 c.1046T>A - p.L349Q 15.01 0.988 0.7609 Thompson et al., 2013 DNA SEQ MLH1_02287
12 c.1046T>C - p.L349P 36.32 0.988 0.9594 Thompson et al., 2013 DNA SEQ MLH1_02288
12 c.1046T>G - p.L349R 33.02 0.988 0.9501 Thompson et al., 2013 DNA SEQ MLH1_02289
12 c.1048C>A - p.P350T 17.77 0.974 0.8148 Thompson et al., 2013 DNA SEQ MLH1_02290
12 c.1048C>G - p.P350A 20 0.964 0.8464 Thompson et al., 2013 DNA SEQ MLH1_02291
12 c.1048C>T - p.P350S 17.5 0.984 0.8159 Thompson et al., 2013 DNA SEQ MLH1_02292
12 c.1049C>A - p.P350Q 17.67 0.98 0.8167 Thompson et al., 2013 DNA SEQ MLH1_02293
12 c.1049C>G - p.P350R 41.48 0.98 0.9687 Thompson et al., 2013 DNA SEQ MLH1_02294
12 c.1049C>T - p.P350L 26.92 0.398 0.4926 Thompson et al., 2013 DNA SEQ MLH1_02295
12 c.1051G>A - p.G351R 23.55 0.757 0.7678 Thompson et al., 2013 DNA SEQ MLH1_02296
12 c.1051G>C - p.G351R 23.55 0.757 0.7678 Thompson et al., 2013 DNA SEQ MLH1_02297
12 c.1052G>A - p.G351E 25.14 0.694 0.7457 Thompson et al., 2013 DNA SEQ MLH1_02298
12 c.1052G>C - p.G351A 8.95 0.321 0.0543 Thompson et al., 2013 DNA SEQ MLH1_02299
12 c.1052G>T - p.G351V 8.36 0.605 0.1416 Thompson et al., 2013 DNA SEQ MLH1_02300
2201 - 2300
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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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