View unique variants   Search unique variants View all contents   Full database search Variant listing based on patient origin Database statistics   Switch gene
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

Unhide all columns | Hide Specific Columns | Hide all columns
About this overview [Show]

4981 entries
entries per page

Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
RNA change Hide RNA change column Descending
Ascending
Protein Hide Protein column Descending
Ascending
MAPP score Hide MAPP score column Descending
Ascending
Custom PP2.1 score Hide Custom PP2.1 score column Descending
Ascending
MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Template Hide Template column Descending
Ascending
Technique Hide Technique column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
12 c.1054C>A - p.L352I 2.19 0.009 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02301
12 c.1054C>G - p.L352V 3.18 0.001 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02302
12 c.1054C>T - p.L352F 2.68 0.055 0.0012 Thompson et al., 2013 DNA SEQ MLH1_02303
12 c.1055T>A - p.L352H 3.75 0.004 0.0021 Thompson et al., 2013 DNA SEQ MLH1_02304
12 c.1055T>C - p.L352P 7.54 0.001 0.0099 Thompson et al., 2013 DNA SEQ MLH1_02305
12 c.1055T>G - p.L352R 9.2 0.088 0.0221 Thompson et al., 2013 DNA SEQ MLH1_02306
12 c.1057G>A - p.A353T 2.49 - 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02307
12 c.1057G>C - p.A353P 3.38 - 0.0016 Thompson et al., 2013 DNA SEQ MLH1_02308
12 c.1057G>T - p.A353S 1.85 - 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02309
12 c.1058C>A - p.A353D 6.01 0.002 0.0059 Thompson et al., 2013 DNA SEQ MLH1_02310
12 c.1058C>G - p.A353G 2.48 - 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02311
12 c.1058C>T - p.A353V 2.92 - 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02312
12 c.1060G>A - p.G354S 1.76 0.005 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02313
12 c.1060G>C - p.G354R 31.43 0.088 0.2692 Thompson et al., 2013 DNA SEQ MLH1_02314
12 c.1060G>T - p.G354C 1.23 0.004 0.0002 Thompson et al., 2013 DNA SEQ MLH1_02315
12 c.1061G>A - p.G354D 32.94 0.001 0.2205 Thompson et al., 2013 DNA SEQ MLH1_02316
12 c.1061G>C - p.G354A 2.93 0.003 0.0012 Thompson et al., 2013 DNA SEQ MLH1_02317
12 c.1061G>T - p.G354V 1.73 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02318
12 c.1063C>A - p.P355T 2.35 0.001 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02319
12 c.1063C>G - p.P355A 3.5 0.006 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02320
12 c.1063C>T - p.P355S 2.59 0.001 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02321
12 c.1064C>A - p.P355H 11.62 0.195 0.0572 Thompson et al., 2013 DNA SEQ MLH1_02322
12 c.1064C>G - p.P355R 29.79 0.068 0.2305 Thompson et al., 2013 DNA SEQ MLH1_02323
12 c.1064C>T - p.P355L 6.35 0.003 0.0068 Thompson et al., 2013 DNA SEQ MLH1_02324
12 c.1066T>A - p.S356T 2.23 0.002 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02325
12 c.1066T>C - p.S356P 6.26 0.068 0.0086 Thompson et al., 2013 DNA SEQ MLH1_02326
12 c.1066T>G - p.S356A 3.38 0.002 0.0016 Thompson et al., 2013 DNA SEQ MLH1_02327
12 c.1067C>A - p.S356Y 3.13 0.118 0.0022 Thompson et al., 2013 DNA SEQ MLH1_02328
12 c.1067C>G - p.S356C 1.6 0.195 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02329
12 c.1067C>T - p.S356F 2.62 0.118 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02330
12 c.1069G>A - p.G357R 32.99 0.047 0.2567 Thompson et al., 2013 DNA SEQ MLH1_02331
12 c.1069G>C - p.G357R 32.99 0.047 0.2567 Thompson et al., 2013 DNA SEQ MLH1_02332
12 c.1069G>T - p.G357W 5.98 0.405 0.0318 Thompson et al., 2013 DNA SEQ MLH1_02333
12 c.1070G>A - p.G357E 31.92 0.002 0.2092 Thompson et al., 2013 DNA SEQ MLH1_02334
12 c.1070G>C - p.G357A 3.47 0.002 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02335
12 c.1070G>T - p.G357V 4.18 0.019 0.0028 Thompson et al., 2013 DNA SEQ MLH1_02336
12 c.1072G>A - p.E358K 4.38 0.001 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02337
12 c.1072G>C - p.E358Q 2.87 0.026 0.0012 Thompson et al., 2013 DNA SEQ MLH1_02338
12 c.1073A>C - p.E358A 6.39 0.001 0.0068 Thompson et al., 2013 DNA SEQ MLH1_02339
12 c.1073A>G - p.E358G 4.37 0.001 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02340
12 c.1073A>T - p.E358V 11.59 - 0.0256 Thompson et al., 2013 DNA SEQ MLH1_02341
12 c.1074G>C - p.E358D 3.13 0.001 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02342
12 c.1074G>T - p.E358D 3.13 0.001 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02343
12 c.1075A>C - p.M359L 2.59 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02344
12 c.1075A>G - p.M359V 1.67 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02345
12 c.1075A>T - p.M359L 2.59 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02346
12 c.1076T>A - p.M359K 3.41 - 0.0016 Thompson et al., 2013 DNA SEQ MLH1_02347
12 c.1076T>C - p.M359T 2.1 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02348
12 c.1076T>G - p.M359R 3.78 - 0.0021 Thompson et al., 2013 DNA SEQ MLH1_02349
12 c.1077G>A - p.M359I 1.87 - 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02350
12 c.1077G>C - p.M359I 1.87 - 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02351
12 c.1077G>T - p.M359I 1.87 - 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02352
12 c.1078G>A - p.V360I 3.78 0.001 0.0021 Thompson et al., 2013 DNA SEQ MLH1_02353
12 c.1078G>C - p.V360L 4.61 0.006 0.0033 Thompson et al., 2013 DNA SEQ MLH1_02354
12 c.1078G>T - p.V360F 4.94 0.072 0.0051 Thompson et al., 2013 DNA SEQ MLH1_02355
12 c.1079T>A - p.V360D 5.45 0.004 0.0048 Thompson et al., 2013 DNA SEQ MLH1_02356
12 c.1079T>C - p.V360A 3.81 0.001 0.0021 Thompson et al., 2013 DNA SEQ MLH1_02357
12 c.1079T>G - p.V360G 3.12 0.016 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02358
12 c.1081A>C - p.K361Q 4.37 0.01 0.003 Thompson et al., 2013 DNA SEQ MLH1_02359
12 c.1081A>G - p.K361E 6.49 0.002 0.0071 Thompson et al., 2013 DNA SEQ MLH1_02360
12 c.1082A>C - p.K361T 7.57 0.046 0.012 Thompson et al., 2013 DNA SEQ MLH1_02361
12 c.1082A>G - p.K361R 3.61 0.003 0.0019 Thompson et al., 2013 DNA SEQ MLH1_02362
12 c.1082A>T - p.K361I 26.14 0.115 0.2138 Thompson et al., 2013 DNA SEQ MLH1_02363
12 c.1083A>C - p.K361N 3.63 0.01 0.002 Thompson et al., 2013 DNA SEQ MLH1_02364
12 c.1083A>T - p.K361N 3.63 0.01 0.002 Thompson et al., 2013 DNA SEQ MLH1_02365
12 c.1084T>A - p.S362T 3.11 0.027 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02366
12 c.1084T>C - p.S362P 4.59 0.001 0.0032 Thompson et al., 2013 DNA SEQ MLH1_02367
12 c.1084T>G - p.S362A 4.95 0.009 0.0039 Thompson et al., 2013 DNA SEQ MLH1_02368
12 c.1085C>A - p.S362Y 4.13 0.155 0.0049 Thompson et al., 2013 DNA SEQ MLH1_02369
12 c.1085C>G - p.S362C 5.43 0.286 0.0157 Thompson et al., 2013 DNA SEQ MLH1_02370
12 c.1085C>T - p.S362F 5.66 0.234 0.0138 Thompson et al., 2013 DNA SEQ MLH1_02371
12 c.1087A>C - p.T363P 6.86 0.026 0.0089 Thompson et al., 2013 DNA SEQ MLH1_02372
12 c.1087A>G - p.T363A 3.52 - 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02373
12 c.1087A>T - p.T363S 1.65 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02374
12 c.1088C>A - p.T363K 28.8 0.01 0.1781 Thompson et al., 2013 DNA SEQ MLH1_02375
12 c.1088C>G - p.T363R 34.29 0.018 0.2499 Thompson et al., 2013 DNA SEQ MLH1_02376
12 c.1088C>T - p.T363I 3.07 0.007 0.0013 Thompson et al., 2013 DNA SEQ MLH1_02377
12 c.1090A>C - p.T364P 3.85 - 0.0022 Thompson et al., 2013 DNA SEQ MLH1_02378
12 c.1090A>G - p.T364A 2.83 - 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02379
12 c.1090A>T - p.T364S 1.36 0.006 0.0002 Thompson et al., 2013 DNA SEQ MLH1_02380
12 c.1091C>A - p.T364K 28.2 - 0.1652 Thompson et al., 2013 DNA SEQ MLH1_02381
12 c.1091C>G - p.T364R 33.35 0.01 0.2321 Thompson et al., 2013 DNA SEQ MLH1_02382
12 c.1091C>T - p.T364I 4.26 0.001 0.0027 Thompson et al., 2013 DNA SEQ MLH1_02383
12 c.1093A>C - p.S365R - 0.002 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02384
12 c.1093A>G - p.S365G - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02385
12 c.1093A>T - p.S365C - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02386
12 c.1094G>A - p.S365N - 0.007 0.0025 Thompson et al., 2013 DNA SEQ MLH1_02387
12 c.1094G>C - p.S365T - 0.007 0.0025 Thompson et al., 2013 DNA SEQ MLH1_02388
12 c.1094G>T - p.S365I - 0.019 0.0028 Thompson et al., 2013 DNA SEQ MLH1_02389
12 c.1095T>A - p.S365R - 0.002 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02390
12 c.1095T>G - p.S365R - 0.002 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02391
12 c.1096C>A - p.L366M - 0.004 0.0025 Thompson et al., 2013 DNA SEQ MLH1_02392
12 c.1096C>G - p.L366V - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02393
12 c.1097T>A - p.L366Q - 0.026 0.003 Thompson et al., 2013 DNA SEQ MLH1_02394
12 c.1097T>C - p.L366P - 0.026 0.003 Thompson et al., 2013 DNA SEQ MLH1_02395
12 c.1097T>G - p.L366R - 0.018 0.0028 Thompson et al., 2013 DNA SEQ MLH1_02396
12 c.1099A>C - p.T367P 7.88 0.001 0.0109 Thompson et al., 2013 DNA SEQ MLH1_02397
12 c.1099A>G - p.T367A 3.8 - 0.0021 Thompson et al., 2013 DNA SEQ MLH1_02398
12 c.1099A>T - p.T367S 1.69 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02399
12 c.1100C>A - p.T367N 5.29 0.018 0.0048 Thompson et al., 2013 DNA SEQ MLH1_02400
2301 - 2400
[<<] [<-] ... 19 20 21 22 23 24 25 26 27 28 29 ... [->] [>>]

Save Click here to save this list in a tab-delimited text file.

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.

  Powered by LOVD v.2.0 Build 33
Enabled modules: mutalyzer
©2004-2011 Leiden University Medical Center