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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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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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13 c.1507C>T - p.L503F 7.8 0.454 0.0689 Thompson et al., 2013 DNA SEQ MLH1_03301
13 c.1508T>A - p.L503H 17.86 0.997 0.8307 Thompson et al., 2013 DNA SEQ MLH1_03302
13 c.1508T>C - p.L503P 21.32 0.99 0.8768 Thompson et al., 2013 DNA SEQ MLH1_03303
13 c.1508T>G - p.L503R 32.44 0.99 0.9486 Thompson et al., 2013 DNA SEQ MLH1_03304
13 c.1510A>C - p.T504P 14.78 0.866 0.6463 Thompson et al., 2013 DNA SEQ MLH1_03305
13 c.1510A>G - p.T504A 10.06 0.513 0.145 Thompson et al., 2013 DNA SEQ MLH1_03306
13 c.1510A>T - p.T504S 3.46 0.062 0.0022 Thompson et al., 2013 DNA SEQ MLH1_03307
13 c.1511C>A - p.T504N 12.98 0.825 0.5333 Thompson et al., 2013 DNA SEQ MLH1_03308
13 c.1511C>G - p.T504S 3.46 0.062 0.0022 Thompson et al., 2013 DNA SEQ MLH1_03309
13 c.1511C>T - p.T504I 4.21 0.192 0.0059 Thompson et al., 2013 DNA SEQ MLH1_03310
13 c.1513A>C - p.S505R 36.37 0.996 0.9609 Thompson et al., 2013 DNA SEQ MLH1_03311
13 c.1513A>G - p.S505G 9.08 0.986 0.502 Thompson et al., 2013 DNA SEQ MLH1_03312
13 c.1513A>T - p.S505C 20.41 0.996 0.8687 Thompson et al., 2013 DNA SEQ MLH1_03313
13 c.1514G>A - p.S505N 14.09 0.995 0.7396 Thompson et al., 2013 DNA SEQ MLH1_03314
13 c.1514G>C - p.S505T 13.44 0.993 0.7167 Thompson et al., 2013 DNA SEQ MLH1_03315
13 c.1514G>T - p.S505I 29.33 0.996 0.9378 Thompson et al., 2013 DNA SEQ MLH1_03316
13 c.1515T>A - p.S505R 36.37 0.996 0.9609 Thompson et al., 2013 DNA SEQ MLH1_03317
13 c.1515T>G - p.S505R 36.37 0.996 0.9609 Thompson et al., 2013 DNA SEQ MLH1_03318
13 c.1516G>A - p.V506I 4.23 0.03 0.003 Thompson et al., 2013 DNA SEQ MLH1_03319
13 c.1516G>C - p.V506L 12.59 0.026 0.0342 Thompson et al., 2013 DNA SEQ MLH1_03320
13 c.1516G>T - p.V506F 10.71 0.607 0.2259 Thompson et al., 2013 DNA SEQ MLH1_03321
13 c.1517T>A - p.V506D 31.98 0.851 0.9081 Thompson et al., 2013 DNA SEQ MLH1_03322
13 c.1517T>C - p.V506A 20.29 0.409 0.3487 Thompson et al., 2013 DNA SEQ MLH1_03323
13 c.1517T>G - p.V506G 14.63 0.813 0.5876 Thompson et al., 2013 DNA SEQ MLH1_03324
13 c.1519T>A - p.L507M 2.73 0.667 0.0166 Thompson et al., 2013 DNA SEQ MLH1_03325
13 c.1519T>G - p.L507V 9.63 0.377 0.0792 Thompson et al., 2013 DNA SEQ MLH1_03326
13 c.1520T>C - p.L507S 12.59 0.044 0.0369 Thompson et al., 2013 DNA SEQ MLH1_03327
13 c.1520T>G - p.L507W 10.23 0.941 0.5218 Thompson et al., 2013 DNA SEQ MLH1_03328
13 c.1521G>C - p.L507F 6.24 0.717 0.1203 Thompson et al., 2013 DNA SEQ MLH1_03329
13 c.1521G>T - p.L507F 6.24 0.717 0.1203 Thompson et al., 2013 DNA SEQ MLH1_03330
13 c.1522A>C - p.S508R 3.66 0.01 0.002 Thompson et al., 2013 DNA SEQ MLH1_03331
13 c.1522A>G - p.S508G 2.32 - 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03332
13 c.1522A>T - p.S508C 4.11 0.082 0.0035 Thompson et al., 2013 DNA SEQ MLH1_03333
13 c.1523G>A - p.S508N 2.33 0.001 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03334
13 c.1523G>C - p.S508T 2.93 - 0.0012 Thompson et al., 2013 DNA SEQ MLH1_03335
13 c.1523G>T - p.S508I 5.52 0.018 0.0052 Thompson et al., 2013 DNA SEQ MLH1_03336
13 c.1524T>A - p.S508R 3.66 0.01 0.002 Thompson et al., 2013 DNA SEQ MLH1_03337
13 c.1524T>G - p.S508R 3.66 0.01 0.002 Thompson et al., 2013 DNA SEQ MLH1_03338
13 c.1525C>A - p.L509I 15.46 0.983 0.7691 Thompson et al., 2013 DNA SEQ MLH1_03339
13 c.1525C>G - p.L509V 25.8 0.917 0.8894 Thompson et al., 2013 DNA SEQ MLH1_03340
13 c.1525C>T - p.L509F 12.59 0.973 0.667 Thompson et al., 2013 DNA SEQ MLH1_03341
13 c.1526T>A - p.L509H 20.32 0.997 0.868 Thompson et al., 2013 DNA SEQ MLH1_03342
13 c.1526T>C - p.L509P 36.32 0.99 0.9598 Thompson et al., 2013 DNA SEQ MLH1_03343
13 c.1526T>G - p.L509R 33.02 0.99 0.9505 Thompson et al., 2013 DNA SEQ MLH1_03344
13 c.1528C>A - p.Q510K 2.72 0.006 0.001 Thompson et al., 2013 DNA SEQ MLH1_03345
13 c.1528C>G - p.Q510E 7.05 0.027 0.0095 Thompson et al., 2013 DNA SEQ MLH1_03346
13 c.1529A>C - p.Q510P 21.02 0.273 0.2453 Thompson et al., 2013 DNA SEQ MLH1_03347
13 c.1529A>G - p.Q510R 3.15 0.001 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03348
13 c.1529A>T - p.Q510L 21.68 0.047 0.1175 Thompson et al., 2013 DNA SEQ MLH1_03349
13 c.1530G>C - p.Q510H 4.97 0.005 0.0039 Thompson et al., 2013 DNA SEQ MLH1_03350
13 c.1530G>T - p.Q510H 4.97 0.005 0.0039 Thompson et al., 2013 DNA SEQ MLH1_03351
13 c.1531G>A - p.E511K 2.35 0.002 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03352
13 c.1531G>C - p.E511Q 2.68 0.011 0.001 Thompson et al., 2013 DNA SEQ MLH1_03353
13 c.1532A>C - p.E511A 8.49 0.006 0.0131 Thompson et al., 2013 DNA SEQ MLH1_03354
13 c.1532A>G - p.E511G 4.96 0.046 0.0046 Thompson et al., 2013 DNA SEQ MLH1_03355
13 c.1532A>T - p.E511V 12.15 0.112 0.045 Thompson et al., 2013 DNA SEQ MLH1_03356
13 c.1533A>C - p.E511D 2.28 0.003 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03357
13 c.1533A>T - p.E511D 2.28 0.003 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03358
13 c.1534G>A - p.E512K 5 0.013 0.0041 Thompson et al., 2013 DNA SEQ MLH1_03359
13 c.1534G>C - p.E512Q 5.01 0.043 0.0047 Thompson et al., 2013 DNA SEQ MLH1_03360
13 c.1535A>C - p.E512A 18.98 0.042 0.0879 Thompson et al., 2013 DNA SEQ MLH1_03361
13 c.1535A>G - p.E512G 12.24 0.229 0.0732 Thompson et al., 2013 DNA SEQ MLH1_03362
13 c.1535A>T - p.E512V 29.69 0.167 0.3119 Thompson et al., 2013 DNA SEQ MLH1_03363
13 c.1536A>C - p.E512D 8.46 0.071 0.0171 Thompson et al., 2013 DNA SEQ MLH1_03364
13 c.1536A>T - p.E512D 8.46 0.071 0.0171 Thompson et al., 2013 DNA SEQ MLH1_03365
13 c.1537A>C - p.I513L 10.17 0.152 0.036 Thompson et al., 2013 DNA SEQ MLH1_03366
13 c.1537A>G - p.I513V 6.01 0.003 0.006 Thompson et al., 2013 DNA SEQ MLH1_03367
13 c.1537A>T - p.I513F 8.77 0.461 0.0905 Thompson et al., 2013 DNA SEQ MLH1_03368
13 c.1538T>A - p.I513N 15.46 0.54 0.3354 Thompson et al., 2013 DNA SEQ MLH1_03369
13 c.1538T>C - p.I513T 14.44 0.034 0.0477 Thompson et al., 2013 DNA SEQ MLH1_03370
13 c.1538T>G - p.I513S 13.67 0.24 0.0961 Thompson et al., 2013 DNA SEQ MLH1_03371
13 c.1539T>G - p.I513M 14.89 0.034 0.051 Thompson et al., 2013 DNA SEQ MLH1_03372
13 c.1540A>C - p.N514H 2.69 0.07 0.0013 Thompson et al., 2013 DNA SEQ MLH1_03373
13 c.1540A>G - p.N514D 2.32 0.001 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03374
13 c.1540A>T - p.N514Y 4.38 0.07 0.0039 Thompson et al., 2013 DNA SEQ MLH1_03375
13 c.1541A>C - p.N514T 3.5 0.006 0.0018 Thompson et al., 2013 DNA SEQ MLH1_03376
13 c.1541A>G - p.N514S 2.52 - 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03377
13 c.1541A>T - p.N514I 8.43 0.064 0.0165 Thompson et al., 2013 DNA SEQ MLH1_03378
13 c.1542T>A - p.N514K 2.03 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03379
13 c.1542T>G - p.N514K 2.03 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03380
13 c.1543G>A - p.E515K 2.4 0.003 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03381
13 c.1543G>C - p.E515Q 1.84 0.006 0.0004 Thompson et al., 2013 DNA SEQ MLH1_03382
13 c.1544A>C - p.E515A 3.84 0.026 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03383
13 c.1544A>G - p.E515G 3.94 0.026 0.0025 Thompson et al., 2013 DNA SEQ MLH1_03384
13 c.1544A>T - p.E515V 5.53 0.066 0.0065 Thompson et al., 2013 DNA SEQ MLH1_03385
13 c.1545G>C - p.E515D 2.13 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03386
13 c.1545G>T - p.E515D 2.13 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03387
13 c.1546C>A - p.Q516K 1.85 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_03388
13 c.1546C>G - p.Q516E 3.77 0.01 0.0021 Thompson et al., 2013 DNA SEQ MLH1_03389
13 c.1547A>C - p.Q516P 7.96 0.03 0.0126 Thompson et al., 2013 DNA SEQ MLH1_03390
13 c.1547A>G - p.Q516R 2.44 - 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03391
13 c.1547A>T - p.Q516L 3.01 0.01 0.0013 Thompson et al., 2013 DNA SEQ MLH1_03392
13 c.1548G>C - p.Q516H 2.52 0.076 0.0011 Thompson et al., 2013 DNA SEQ MLH1_03393
13 c.1548G>T - p.Q516H 2.52 0.076 0.0011 Thompson et al., 2013 DNA SEQ MLH1_03394
13 c.1549G>A - p.G517R 3.9 0.027 0.0025 Thompson et al., 2013 DNA SEQ MLH1_03395
13 c.1549G>C - p.G517R 3.9 0.027 0.0025 Thompson et al., 2013 DNA SEQ MLH1_03396
13 c.1550G>A - p.G517E 3.47 0.001 0.0017 Thompson et al., 2013 DNA SEQ MLH1_03397
13 c.1550G>C - p.G517A 3.5 0.001 0.0017 Thompson et al., 2013 DNA SEQ MLH1_03398
13 c.1550G>T - p.G517V 5.89 - 0.0056 Thompson et al., 2013 DNA SEQ MLH1_03399
13 c.1552C>A - p.H518N 5.41 0.119 0.0077 Thompson et al., 2013 DNA SEQ MLH1_03400
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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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