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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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8 c.598A>G - p.T200A 6.33 0.004 0.0067 Thompson et al., 2013 DNA SEQ MLH1_01301
8 c.598A>T - p.T200S 1.1 0.002 0.0001 Thompson et al., 2013 DNA SEQ MLH1_01302
8 c.599C>A - p.T200K 26.49 0.097 0.2061 Thompson et al., 2013 DNA SEQ MLH1_01303
8 c.599C>G - p.T200R 30.44 0.208 0.3635 Thompson et al., 2013 DNA SEQ MLH1_01304
8 c.599C>T - p.T200I 6.26 0.023 0.0071 Thompson et al., 2013 DNA SEQ MLH1_01305
8 c.601G>A - p.V201I 2.27 0.025 0.0007 Thompson et al., 2013 DNA SEQ MLH1_01306
8 c.601G>C - p.V201L 3.82 0.002 0.0021 Thompson et al., 2013 DNA SEQ MLH1_01307
8 c.601G>T - p.V201L 3.82 0.002 0.0021 Thompson et al., 2013 DNA SEQ MLH1_01308
8 c.602T>A - p.V201E 29.44 0.064 0.2228 Thompson et al., 2013 DNA SEQ MLH1_01309
8 c.602T>C - p.V201A 4.53 0.008 0.0032 Thompson et al., 2013 DNA SEQ MLH1_01310
8 c.602T>G - p.V201G 2.88 0.002 0.0011 Thompson et al., 2013 DNA SEQ MLH1_01311
8 c.604G>A - p.A202T 4.58 0.011 0.0033 Thompson et al., 2013 DNA SEQ MLH1_01312
8 c.604G>C - p.A202P 5.34 0.005 0.0046 Thompson et al., 2013 DNA SEQ MLH1_01313
8 c.604G>T - p.A202S 3.6 0.005 0.0019 Thompson et al., 2013 DNA SEQ MLH1_01314
8 c.605C>A - p.A202D 35.88 0.317 0.5689 Thompson et al., 2013 DNA SEQ MLH1_01315
8 c.605C>G - p.A202G 3.96 0.147 0.0043 Thompson et al., 2013 DNA SEQ MLH1_01316
8 c.605C>T - p.A202V 3.67 0.019 0.0021 Thompson et al., 2013 DNA SEQ MLH1_01317
8 c.607G>A - p.D203N 3.79 0.4 0.0113 Thompson et al., 2013 DNA SEQ MLH1_01318
8 c.607G>C - p.D203H 5.88 0.786 0.1382 Thompson et al., 2013 DNA SEQ MLH1_01319
8 c.607G>T - p.D203Y 7.46 0.786 0.2159 Thompson et al., 2013 DNA SEQ MLH1_01320
8 c.608A>C - p.D203A 8.4 0.204 0.0293 Thompson et al., 2013 DNA SEQ MLH1_01321
8 c.608A>G - p.D203G 6.71 0.048 0.0092 Thompson et al., 2013 DNA SEQ MLH1_01322
8 c.608A>T - p.D203V 11.4 0.311 0.087 Thompson et al., 2013 DNA SEQ MLH1_01323
8 c.609T>A - p.D203E 3.61 0.048 0.0023 Thompson et al., 2013 DNA SEQ MLH1_01324
8 c.609T>G - p.D203E 3.61 0.048 0.0023 Thompson et al., 2013 DNA SEQ MLH1_01325
8 c.610G>A - p.V204I 4.04 0.013 0.0025 Thompson et al., 2013 DNA SEQ MLH1_01326
8 c.610G>C - p.V204L 8.22 0.022 0.0131 Thompson et al., 2013 DNA SEQ MLH1_01327
8 c.610G>T - p.V204F 9.97 0.57 0.1748 Thompson et al., 2013 DNA SEQ MLH1_01328
8 c.611T>A - p.V204D 35.77 0.744 0.8899 Thompson et al., 2013 DNA SEQ MLH1_01329
8 c.611T>C - p.V204A 12.54 0.346 0.1207 Thompson et al., 2013 DNA SEQ MLH1_01330
8 c.611T>G - p.V204G 14.17 0.788 0.5436 Thompson et al., 2013 DNA SEQ MLH1_01331
8 c.613A>G - p.R205G 24.42 0.897 0.867 Thompson et al., 2013 DNA SEQ MLH1_01332
8 c.613A>T - p.R205W 20.18 0.981 0.8581 Thompson et al., 2013 DNA SEQ MLH1_01333
8 c.614G>A - p.R205K 4.45 0.06 0.0039 Thompson et al., 2013 DNA SEQ MLH1_01334
8 c.614G>C - p.R205T 23.85 0.732 0.7537 Thompson et al., 2013 DNA SEQ MLH1_01335
8 c.614G>T - p.R205M 14.6 0.933 0.7028 Thompson et al., 2013 DNA SEQ MLH1_01336
8 c.615G>C - p.R205S 20.19 0.839 0.7678 Thompson et al., 2013 DNA SEQ MLH1_01337
8 c.615G>T - p.R205S 20.19 0.839 0.7678 Thompson et al., 2013 DNA SEQ MLH1_01338
8 c.616A>C - p.T206P 43.72 0.999 0.9742 Thompson et al., 2013 DNA SEQ MLH1_01339
8 c.616A>G - p.T206A 37.99 0.999 0.9649 Thompson et al., 2013 DNA SEQ MLH1_01340
8 c.616A>T - p.T206S 11.33 0.999 0.6379 Thompson et al., 2013 DNA SEQ MLH1_01341
8 c.617C>A - p.T206K 34.43 0.999 0.9564 Thompson et al., 2013 DNA SEQ MLH1_01342
8 c.617C>G - p.T206R 37.76 0.999 0.9644 Thompson et al., 2013 DNA SEQ MLH1_01343
8 c.617C>T - p.T206I 33.48 0.999 0.9537 Thompson et al., 2013 DNA SEQ MLH1_01344
8 c.619C>A - p.L207I 3.32 0.407 0.0086 Thompson et al., 2013 DNA SEQ MLH1_01345
8 c.619C>G - p.L207V 5.09 0.097 0.0061 Thompson et al., 2013 DNA SEQ MLH1_01346
8 c.620T>A - p.L207Q 2.69 0.034 0.0011 Thompson et al., 2013 DNA SEQ MLH1_01347
8 c.620T>C - p.L207P 8.85 0.006 0.0144 Thompson et al., 2013 DNA SEQ MLH1_01348
8 c.620T>G - p.L207R 24.09 0.407 0.4394 Thompson et al., 2013 DNA SEQ MLH1_01349
8 c.622C>A - p.P208T 2.74 0.001 0.001 Thompson et al., 2013 DNA SEQ MLH1_01350
8 c.622C>G - p.P208A 2.97 0.002 0.0012 Thompson et al., 2013 DNA SEQ MLH1_01351
8 c.622C>T - p.P208S 2.49 0.001 0.0008 Thompson et al., 2013 DNA SEQ MLH1_01352
8 c.623C>A - p.P208H 11.15 0.002 0.0237 Thompson et al., 2013 DNA SEQ MLH1_01353
8 c.623C>G - p.P208R 24.15 0.055 0.1496 Thompson et al., 2013 DNA SEQ MLH1_01354
8 c.623C>T - p.P208L 3.92 0.001 0.0022 Thompson et al., 2013 DNA SEQ MLH1_01355
8 c.625A>C - p.N209H 11.62 0.161 0.0499 Thompson et al., 2013 DNA SEQ MLH1_01356
8 c.625A>G - p.N209D 24.23 0.002 0.1239 Thompson et al., 2013 DNA SEQ MLH1_01357
8 c.625A>T - p.N209Y 4.13 0.195 0.0058 Thompson et al., 2013 DNA SEQ MLH1_01358
8 c.626A>C - p.N209T 2.03 0.002 0.0005 Thompson et al., 2013 DNA SEQ MLH1_01359
8 c.626A>G - p.N209S 1.39 0.001 0.0002 Thompson et al., 2013 DNA SEQ MLH1_01360
8 c.626A>T - p.N209I 6.81 0.195 0.0177 Thompson et al., 2013 DNA SEQ MLH1_01361
8 c.627T>A - p.N209K 23.8 0.009 0.1228 Thompson et al., 2013 DNA SEQ MLH1_01362
8 c.627T>G - p.N209K 23.8 0.009 0.1228 Thompson et al., 2013 DNA SEQ MLH1_01363
8 c.628G>A - p.A210T 12.49 0.05 0.0371 Thompson et al., 2013 DNA SEQ MLH1_01364
8 c.628G>C - p.A210P 15.22 0.388 0.2031 Thompson et al., 2013 DNA SEQ MLH1_01365
8 c.628G>T - p.A210S 6.5 0.005 0.0072 Thompson et al., 2013 DNA SEQ MLH1_01366
8 c.629C>A - p.A210D 38.97 0.082 0.3691 Thompson et al., 2013 DNA SEQ MLH1_01367
8 c.629C>G - p.A210G 6.43 0.029 0.0078 Thompson et al., 2013 DNA SEQ MLH1_01368
8 c.629C>T - p.A210V 16.59 0.19 0.1177 Thompson et al., 2013 DNA SEQ MLH1_01369
8 c.631T>A - p.S211T 1.99 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_01370
8 c.631T>C - p.S211P 29.72 0.171 0.316 Thompson et al., 2013 DNA SEQ MLH1_01371
8 c.631T>G - p.S211A 23.48 0.042 0.1351 Thompson et al., 2013 DNA SEQ MLH1_01372
8 c.632C>T - p.S211L 31.93 0.102 0.2884 Thompson et al., 2013 DNA SEQ MLH1_01373
8 c.634A>C - p.T212P 13.43 0.055 0.0444 Thompson et al., 2013 DNA SEQ MLH1_01374
8 c.634A>G - p.T212A 8.98 0.022 0.0159 Thompson et al., 2013 DNA SEQ MLH1_01375
8 c.634A>T - p.T212S 3.31 0.005 0.0016 Thompson et al., 2013 DNA SEQ MLH1_01376
8 c.635C>A - p.T212N 10.86 0.005 0.0227 Thompson et al., 2013 DNA SEQ MLH1_01377
8 c.635C>G - p.T212S 3.31 0.005 0.0016 Thompson et al., 2013 DNA SEQ MLH1_01378
8 c.635C>T - p.T212I 2.33 0.016 0.0007 Thompson et al., 2013 DNA SEQ MLH1_01379
8 c.637G>A - p.V213M 7.23 0.024 0.0099 Thompson et al., 2013 DNA SEQ MLH1_01380
8 c.637G>C - p.V213L 6.04 0.004 0.0061 Thompson et al., 2013 DNA SEQ MLH1_01381
8 c.637G>T - p.V213L 6.04 0.004 0.0061 Thompson et al., 2013 DNA SEQ MLH1_01382
8 c.638T>A - p.V213E 10.47 0.024 0.0226 Thompson et al., 2013 DNA SEQ MLH1_01383
8 c.638T>C - p.V213A 9.28 0.019 0.0169 Thompson et al., 2013 DNA SEQ MLH1_01384
8 c.638T>G - p.V213G 8.6 0.151 0.0248 Thompson et al., 2013 DNA SEQ MLH1_01385
8 c.640G>A - p.D214N 3.57 0.159 0.0036 Thompson et al., 2013 DNA SEQ MLH1_01386
8 c.640G>C - p.D214H 10.1 0.361 0.0822 Thompson et al., 2013 DNA SEQ MLH1_01387
8 c.640G>T - p.D214Y 18.66 0.872 0.7609 Thompson et al., 2013 DNA SEQ MLH1_01388
8 c.641A>C - p.D214A 19.77 0.553 0.4825 Thompson et al., 2013 DNA SEQ MLH1_01389
8 c.641A>G - p.D214G 15.36 0.672 0.466 Thompson et al., 2013 DNA SEQ MLH1_01390
8 c.641A>T - p.D214V 12.77 0.757 0.4518 Thompson et al., 2013 DNA SEQ MLH1_01391
8 c.642C>A - p.D214E 25.3 0.097 0.1896 Thompson et al., 2013 DNA SEQ MLH1_01392
8 c.642C>G - p.D214E 25.3 0.097 0.1896 Thompson et al., 2013 DNA SEQ MLH1_01393
8 c.643A>C - p.N215H 14.29 0.992 0.7433 Thompson et al., 2013 DNA SEQ MLH1_01394
8 c.643A>G - p.N215D 29.27 0.986 0.9349 Thompson et al., 2013 DNA SEQ MLH1_01395
8 c.643A>T - p.N215Y 20.2 0.992 0.864 Thompson et al., 2013 DNA SEQ MLH1_01396
8 c.644A>C - p.N215T 16.73 0.971 0.7911 Thompson et al., 2013 DNA SEQ MLH1_01397
8 c.644A>G - p.N215S 13.4 0.671 0.3893 Thompson et al., 2013 DNA SEQ MLH1_01398
8 c.644A>T - p.N215I 22.05 0.992 0.8857 Thompson et al., 2013 DNA SEQ MLH1_01399
8 c.645T>A - p.N215K 25.31 0.971 0.9065 Thompson et al., 2013 DNA SEQ MLH1_01400
1301 - 1400
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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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