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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.645T>G - p.N215K 25.31 0.971 0.9065 Thompson et al., 2013 DNA SEQ MLH1_01401
8 c.646A>C - p.I216L 10.44 0.993 0.5878 Thompson et al., 2013 DNA SEQ MLH1_01402
8 c.646A>G - p.I216V 10.65 0.993 0.5987 Thompson et al., 2013 DNA SEQ MLH1_01403
8 c.646A>T - p.I216F 10.65 0.999 0.6048 Thompson et al., 2013 DNA SEQ MLH1_01404
8 c.647T>A - p.I216N 17.95 0.999 0.8335 Thompson et al., 2013 DNA SEQ MLH1_01405
8 c.647T>C - p.I216T 19.6 0.999 0.8594 Thompson et al., 2013 DNA SEQ MLH1_01406
8 c.647T>G - p.I216S 20.83 0.999 0.8753 Thompson et al., 2013 DNA SEQ MLH1_01407
8 c.648T>G - p.I216M 15.7 0.999 0.7869 Thompson et al., 2013 DNA SEQ MLH1_01408
8 c.649C>A - p.R217S 3.88 0.969 0.1198 Thompson et al., 2013 DNA SEQ MLH1_01409
8 c.649C>G - p.R217G 6.18 0.421 0.0365 Thompson et al., 2013 DNA SEQ MLH1_01410
8 c.649C>T - p.R217C 10.3 0.991 0.5783 Thompson et al., 2013 DNA SEQ MLH1_01411
8 c.650G>A - p.R217H 4.2 0.985 0.1485 Thompson et al., 2013 DNA SEQ MLH1_01412
8 c.650G>C - p.R217P 16.84 0.986 0.8038 Thompson et al., 2013 DNA SEQ MLH1_01413
8 c.650G>T - p.R217L 7.63 0.989 0.4076 Thompson et al., 2013 DNA SEQ MLH1_01414
8 c.652T>A - p.S218T 2.25 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_01415
8 c.652T>C - p.S218P 8.56 0.207 0.0309 Thompson et al., 2013 DNA SEQ MLH1_01416
8 c.652T>G - p.S218A 4.62 0.007 0.0033 Thompson et al., 2013 DNA SEQ MLH1_01417
8 c.653C>A - p.S218Y 7.19 0.324 0.0342 Thompson et al., 2013 DNA SEQ MLH1_01418
8 c.653C>G - p.S218C 1.78 0.397 0.002 Thompson et al., 2013 DNA SEQ MLH1_01419
8 c.653C>T - p.S218F 7.55 0.207 0.0234 Thompson et al., 2013 DNA SEQ MLH1_01420
8 c.655A>C - p.I219L 6.24 0.018 0.0069 Thompson et al., 2013 DNA SEQ MLH1_01421
8 c.655A>G - p.I219V 2.82 0.014 0.0011 Thompson et al., 2013 DNA SEQ MLH1_01422
8 c.655A>T - p.I219F 8.09 0.775 0.24 Thompson et al., 2013 DNA SEQ MLH1_01423
8 c.656T>A - p.I219N 14.53 0.927 0.6951 Thompson et al., 2013 DNA SEQ MLH1_01424
8 c.656T>C - p.I219T 14.45 0.629 0.3875 Thompson et al., 2013 DNA SEQ MLH1_01425
8 c.656T>G - p.I219S 12.95 0.715 0.4157 Thompson et al., 2013 DNA SEQ MLH1_01426
8 c.657C>G - p.I219M 12.09 0.7 0.3635 Thompson et al., 2013 DNA SEQ MLH1_01427
8 c.658T>A - p.F220I 8.28 0.938 0.3999 Thompson et al., 2013 DNA SEQ MLH1_01428
8 c.658T>C - p.F220L 11.1 0.847 0.468 Thompson et al., 2013 DNA SEQ MLH1_01429
8 c.658T>G - p.F220V 14.88 0.745 0.5257 Thompson et al., 2013 DNA SEQ MLH1_01430
8 c.659T>A - p.F220Y 3.74 0.038 0.0024 Thompson et al., 2013 DNA SEQ MLH1_01431
8 c.659T>C - p.F220S 16.39 0.899 0.7267 Thompson et al., 2013 DNA SEQ MLH1_01432
8 c.659T>G - p.F220C 15.08 0.964 0.7438 Thompson et al., 2013 DNA SEQ MLH1_01433
8 c.660T>A - p.F220L 11.1 0.847 0.468 Thompson et al., 2013 DNA SEQ MLH1_01434
8 c.660T>G - p.F220L 11.1 0.847 0.468 Thompson et al., 2013 DNA SEQ MLH1_01435
8 c.661G>A - p.G221R 36.52 0.999 0.9617 Thompson et al., 2013 DNA SEQ MLH1_01436
8 c.661G>C - p.G221R 36.52 0.999 0.9617 Thompson et al., 2013 DNA SEQ MLH1_01437
8 c.662G>A - p.G221E 35.36 0.998 0.9587 Thompson et al., 2013 DNA SEQ MLH1_01438
8 c.662G>C - p.G221A 22.05 0.996 0.8874 Thompson et al., 2013 DNA SEQ MLH1_01439
8 c.662G>T - p.G221V 29.36 0.997 0.9381 Thompson et al., 2013 DNA SEQ MLH1_01440
8 c.664A>C - p.N222H 11.38 0.037 0.0287 Thompson et al., 2013 DNA SEQ MLH1_01441
8 c.664A>G - p.N222D 24.82 0.146 0.2163 Thompson et al., 2013 DNA SEQ MLH1_01442
8 c.664A>T - p.N222Y 6.27 0.388 0.0329 Thompson et al., 2013 DNA SEQ MLH1_01443
8 c.665A>C - p.N222T 2.14 0.006 0.0006 Thompson et al., 2013 DNA SEQ MLH1_01444
8 c.665A>G - p.N222S 2.73 0.003 0.001 Thompson et al., 2013 DNA SEQ MLH1_01445
8 c.665A>T - p.N222I 5.18 0.146 0.0078 Thompson et al., 2013 DNA SEQ MLH1_01446
8 c.666T>A - p.N222K 23.13 0.022 0.1218 Thompson et al., 2013 DNA SEQ MLH1_01447
8 c.666T>G - p.N222K 23.13 0.022 0.1218 Thompson et al., 2013 DNA SEQ MLH1_01448
8 c.667G>A - p.A223T 4.72 0.067 0.0045 Thompson et al., 2013 DNA SEQ MLH1_01449
8 c.667G>C - p.A223P 4.19 0.111 0.0042 Thompson et al., 2013 DNA SEQ MLH1_01450
8 c.667G>T - p.A223S 2.93 0.067 0.0015 Thompson et al., 2013 DNA SEQ MLH1_01451
8 c.668C>A - p.A223D 5.59 0.753 0.1105 Thompson et al., 2013 DNA SEQ MLH1_01452
8 c.668C>G - p.A223G 2.66 0.067 0.0012 Thompson et al., 2013 DNA SEQ MLH1_01453
8 c.668C>T - p.A223V 5.57 0.53 0.0455 Thompson et al., 2013 DNA SEQ MLH1_01454
8 c.670G>A - p.V224I 11.96 0.493 0.1875 Thompson et al., 2013 DNA SEQ MLH1_01455
8 c.670G>C - p.V224L 20.81 0.835 0.7769 Thompson et al., 2013 DNA SEQ MLH1_01456
8 c.670G>T - p.V224F 21.09 0.988 0.8732 Thompson et al., 2013 DNA SEQ MLH1_01457
8 c.671T>A - p.V224D 33.13 0.993 0.9515 Thompson et al., 2013 DNA SEQ MLH1_01458
8 c.671T>C - p.V224A 27.75 0.97 0.9224 Thompson et al., 2013 DNA SEQ MLH1_01459
8 c.671T>G - p.V224G 23.22 0.993 0.8975 Thompson et al., 2013 DNA SEQ MLH1_01460
8 c.673A>C - p.S225R 39.53 0.889 0.9495 Thompson et al., 2013 DNA SEQ MLH1_01461
8 c.673A>G - p.S225G 5.3 0.119 0.0073 Thompson et al., 2013 DNA SEQ MLH1_01462
8 c.673A>T - p.S225C 9.2 0.935 0.4553 Thompson et al., 2013 DNA SEQ MLH1_01463
8 c.674G>A - p.S225N 14.18 0.889 0.6472 Thompson et al., 2013 DNA SEQ MLH1_01464
8 c.674G>C - p.S225T 9.59 0.636 0.2044 Thompson et al., 2013 DNA SEQ MLH1_01465
8 c.674G>T - p.S225I 14.28 0.825 0.5866 Thompson et al., 2013 DNA SEQ MLH1_01466
8 c.675T>A - p.S225R 39.53 0.889 0.9495 Thompson et al., 2013 DNA SEQ MLH1_01467
8 c.675T>G - p.S225R 39.53 0.889 0.9495 Thompson et al., 2013 DNA SEQ MLH1_01468
8 c.676C>G - p.R226G 24.2 0.989 0.9043 Thompson et al., 2013 DNA SEQ MLH1_01469
8 c.677G>A - p.R226Q 11.7 0.821 0.4702 Thompson et al., 2013 DNA SEQ MLH1_01470
8 c.677G>C - p.R226P 32.38 0.986 0.9476 Thompson et al., 2013 DNA SEQ MLH1_01471
8 c.677G>T - p.R226L 20.21 0.989 0.8626 Thompson et al., 2013 DNA SEQ MLH1_01472
9 c.679G>A - p.E227K 19.98 0.983 0.8564 Thompson et al., 2013 DNA SEQ MLH1_01473
9 c.679G>C - p.E227Q 13.2 0.993 0.7083 Thompson et al., 2013 DNA SEQ MLH1_01474
9 c.680A>C - p.E227A 24.45 0.882 0.8598 Thompson et al., 2013 DNA SEQ MLH1_01475
9 c.680A>G - p.E227G 28.23 0.983 0.9289 Thompson et al., 2013 DNA SEQ MLH1_01476
9 c.680A>T - p.E227V 31.34 0.988 0.9442 Thompson et al., 2013 DNA SEQ MLH1_01477
9 c.681A>C - p.E227D 13.31 0.75 0.4678 Thompson et al., 2013 DNA SEQ MLH1_01478
9 c.681A>T - p.E227D 13.31 0.75 0.4678 Thompson et al., 2013 DNA SEQ MLH1_01479
9 c.682C>A - p.L228M 10.29 0.989 0.5756 Thompson et al., 2013 DNA SEQ MLH1_01480
9 c.682C>G - p.L228V 8.75 0.748 0.2517 Thompson et al., 2013 DNA SEQ MLH1_01481
9 c.683T>A - p.L228Q 18.21 0.997 0.8368 Thompson et al., 2013 DNA SEQ MLH1_01482
9 c.683T>C - p.L228P 21.7 0.995 0.8833 Thompson et al., 2013 DNA SEQ MLH1_01483
9 c.683T>G - p.L228R 35.14 0.997 0.958 Thompson et al., 2013 DNA SEQ MLH1_01484
9 c.685A>C - p.I229L 5.37 0.02 0.005 Thompson et al., 2013 DNA SEQ MLH1_01485
9 c.685A>G - p.I229V 5.79 0.016 0.0058 Thompson et al., 2013 DNA SEQ MLH1_01486
9 c.685A>T - p.I229L 5.37 0.02 0.005 Thompson et al., 2013 DNA SEQ MLH1_01487
9 c.686T>A - p.I229K 27.58 0.74 0.8149 Thompson et al., 2013 DNA SEQ MLH1_01488
9 c.686T>C - p.I229T 15.86 0.512 0.3219 Thompson et al., 2013 DNA SEQ MLH1_01489
9 c.686T>G - p.I229R 32.93 0.866 0.9184 Thompson et al., 2013 DNA SEQ MLH1_01490
9 c.687A>G - p.I229M 11.69 0.287 0.0835 Thompson et al., 2013 DNA SEQ MLH1_01491
9 c.688G>A - p.E230K 6.59 0.093 0.0107 Thompson et al., 2013 DNA SEQ MLH1_01492
9 c.688G>C - p.E230Q 4.41 0.715 0.0581 Thompson et al., 2013 DNA SEQ MLH1_01493
9 c.689A>C - p.E230A 9.04 0.578 0.1493 Thompson et al., 2013 DNA SEQ MLH1_01494
9 c.689A>G - p.E230G 6.53 0.093 0.0105 Thompson et al., 2013 DNA SEQ MLH1_01495
9 c.689A>T - p.E230V 14.22 0.806 0.5645 Thompson et al., 2013 DNA SEQ MLH1_01496
9 c.690A>C - p.E230D 3.69 0.093 0.0029 Thompson et al., 2013 DNA SEQ MLH1_01497
9 c.690A>T - p.E230D 3.69 0.093 0.0029 Thompson et al., 2013 DNA SEQ MLH1_01498
9 c.691A>C - p.I231L 12.15 0.004 0.0289 Thompson et al., 2013 DNA SEQ MLH1_01499
9 c.691A>G - p.I231V 1.86 - 0.0004 Thompson et al., 2013 DNA SEQ MLH1_01500
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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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