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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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1 c.52C>A - p.R18S 21.57 0.985 0.8774 Thompson et al., 2013 DNA SEQ MLH1_00101
1 c.52C>G - p.R18G 25.9 0.991 0.9175 Thompson et al., 2013 DNA SEQ MLH1_00102
1 c.52C>T - p.R18C 29.01 0.994 0.9358 Thompson et al., 2013 DNA SEQ MLH1_00103
1 c.53G>A - p.R18H 14.41 0.984 0.7404 Thompson et al., 2013 DNA SEQ MLH1_00104
1 c.53G>C - p.R18P 40.7 0.993 0.969 Thompson et al., 2013 DNA SEQ MLH1_00105
1 c.53G>T - p.R18L 19.03 0.712 0.6273 Thompson et al., 2013 DNA SEQ MLH1_00106
1 c.55A>C - p.I19L 10.44 0.984 0.5785 Thompson et al., 2013 DNA SEQ MLH1_00107
1 c.55A>G - p.I19V 10.65 0.984 0.5894 Thompson et al., 2013 DNA SEQ MLH1_00108
1 c.55A>T - p.I19F 10.65 0.998 0.6038 Thompson et al., 2013 DNA SEQ MLH1_00109
1 c.56T>A - p.I19N 17.95 0.998 0.8329 Thompson et al., 2013 DNA SEQ MLH1_00110
1 c.56T>C - p.I19T 19.6 0.998 0.8589 Thompson et al., 2013 DNA SEQ MLH1_00111
1 c.56T>G - p.I19S 20.83 0.998 0.8748 Thompson et al., 2013 DNA SEQ MLH1_00112
1 c.57C>G - p.I19M 15.7 0.998 0.7862 Thompson et al., 2013 DNA SEQ MLH1_00113
1 c.58G>A - p.A20T 33.24 0.999 0.953 Thompson et al., 2013 DNA SEQ MLH1_00114
1 c.58G>C - p.A20P 38.15 0.999 0.9652 Thompson et al., 2013 DNA SEQ MLH1_00115
1 c.58G>T - p.A20S 23.39 0.999 0.9013 Thompson et al., 2013 DNA SEQ MLH1_00116
1 c.59C>A - p.A20E 37.64 0.999 0.9641 Thompson et al., 2013 DNA SEQ MLH1_00477
1 c.59C>G - p.A20G 22.29 0.999 0.8911 Thompson et al., 2013 DNA SEQ MLH1_00478
1 c.59C>T - p.A20V 35.49 0.999 0.9592 Thompson et al., 2013 DNA SEQ MLH1_00479
1 c.61G>A - p.A21T 33.24 0.999 0.953 Thompson et al., 2013 DNA SEQ MLH1_00480
1 c.61G>C - p.A21P 38.15 0.999 0.9652 Thompson et al., 2013 DNA SEQ MLH1_00481
1 c.61G>T - p.A21S 23.39 0.999 0.9013 Thompson et al., 2013 DNA SEQ MLH1_00482
1 c.62C>A - p.A21E 37.64 0.999 0.9641 Thompson et al., 2013 DNA SEQ MLH1_00483
1 c.62C>G - p.A21G 22.29 0.999 0.8911 Thompson et al., 2013 DNA SEQ MLH1_00484
1 c.62C>T - p.A21V 35.49 0.999 0.9592 Thompson et al., 2013 DNA SEQ MLH1_00485
1 c.64G>A - p.G22R 36.52 0.999 0.9617 Thompson et al., 2013 DNA SEQ MLH1_00486
1 c.64G>C - p.G22R 36.52 0.999 0.9617 Thompson et al., 2013 DNA SEQ MLH1_00487
1 c.64G>T - p.G22W 22.39 1 0.8925 Thompson et al., 2013 DNA SEQ MLH1_00488
1 c.65G>A - p.G22E 35.36 0.998 0.9587 Thompson et al., 2013 DNA SEQ MLH1_00489
1 c.65G>C - p.G22A 22.05 0.997 0.8879 Thompson et al., 2013 DNA SEQ MLH1_00490
1 c.65G>T - p.G22V 29.36 0.998 0.9384 Thompson et al., 2013 DNA SEQ MLH1_00491
1 c.67G>A - p.E23K 19.98 0.998 0.8641 Thompson et al., 2013 DNA SEQ MLH1_00492
1 c.67G>C - p.E23Q 13.2 0.985 0.7012 Thompson et al., 2013 DNA SEQ MLH1_00493
1 c.68A>C - p.E23A 24.45 0.999 0.9099 Thompson et al., 2013 DNA SEQ MLH1_00494
1 c.68A>G - p.E23G 28.23 0.999 0.9333 Thompson et al., 2013 DNA SEQ MLH1_00495
1 c.68A>T - p.E23V 31.34 0.999 0.9466 Thompson et al., 2013 DNA SEQ MLH1_00496
1 c.69A>C - p.E23D 13.31 0.999 0.7174 Thompson et al., 2013 DNA SEQ MLH1_00497
1 c.69A>T - p.E23D 13.31 0.999 0.7174 Thompson et al., 2013 DNA SEQ MLH1_00498
1 c.70G>A - p.V24I 6.61 0.422 0.0425 Thompson et al., 2013 DNA SEQ MLH1_00499
1 c.70G>C - p.V24L 15.27 0.792 0.5894 Thompson et al., 2013 DNA SEQ MLH1_00500
1 c.70G>T - p.V24F 13.17 0.974 0.6902 Thompson et al., 2013 DNA SEQ MLH1_00501
1 c.71T>A - p.V24D 32.59 0.993 0.9497 Thompson et al., 2013 DNA SEQ MLH1_00502
1 c.71T>C - p.V24A 22.62 0.961 0.878 Thompson et al., 2013 DNA SEQ MLH1_00503
1 c.71T>G - p.V24G 15.35 0.99 0.7715 Thompson et al., 2013 DNA SEQ MLH1_00504
1 c.73A>C - p.I25L 10.44 0.996 0.5909 Thompson et al., 2013 DNA SEQ MLH1_00505
1 c.73A>G - p.I25V 10.65 0.996 0.6018 Thompson et al., 2013 DNA SEQ MLH1_00506
1 c.73A>T - p.I25F 10.65 1 0.6058 Thompson et al., 2013 DNA SEQ MLH1_00507
1 c.74T>A - p.I25N 17.95 1 0.8341 Thompson et al., 2013 DNA SEQ MLH1_00508
1 c.74T>C - p.I25T 19.6 0.999 0.8594 Thompson et al., 2013 DNA SEQ MLH1_00509
1 c.74T>G - p.I25S 20.83 0.999 0.8753 Thompson et al., 2013 DNA SEQ MLH1_00510
1 c.75C>G - p.I25M 15.7 1 0.7876 Thompson et al., 2013 DNA SEQ MLH1_00511
1 c.76C>A - p.Q26K 24.02 0.973 0.8967 Thompson et al., 2013 DNA SEQ MLH1_00512
1 c.76C>G - p.Q26E 23.58 0.971 0.8919 Thompson et al., 2013 DNA SEQ MLH1_00513
1 c.77A>C - p.Q26P 31.86 0.988 0.9461 Thompson et al., 2013 DNA SEQ MLH1_00514
1 c.77A>G - p.Q26R 24.67 0.993 0.9094 Thompson et al., 2013 DNA SEQ MLH1_00515
1 c.77A>T - p.Q26L 8.96 0.973 0.4807 Thompson et al., 2013 DNA SEQ MLH1_00516
1 c.78G>C - p.Q26H 11.61 0.931 0.5822 Thompson et al., 2013 DNA SEQ MLH1_00517
1 c.78G>T - p.Q26H 11.61 0.931 0.5822 Thompson et al., 2013 DNA SEQ MLH1_00518
1 c.79C>G - p.R27G 25.9 1 0.9204 Thompson et al., 2013 DNA SEQ MLH1_00519
1 c.79C>T - p.R27W 22.31 1 0.8917 Thompson et al., 2013 DNA SEQ MLH1_00520
1 c.80G>A - p.R27Q 14.43 1 0.7539 Thompson et al., 2013 DNA SEQ MLH1_00521
1 c.80G>C - p.R27P 40.7 1 0.9699 Thompson et al., 2013 DNA SEQ MLH1_00522
1 c.80G>T - p.R27L 19.03 1 0.8516 Thompson et al., 2013 DNA SEQ MLH1_00523
1 c.82C>A - p.P28T 17.77 1 0.8309 Thompson et al., 2013 DNA SEQ MLH1_00524
1 c.82C>G - p.P28A 20 1 0.8653 Thompson et al., 2013 DNA SEQ MLH1_00525
1 c.82C>T - p.P28S 17.5 1 0.826 Thompson et al., 2013 DNA SEQ MLH1_00526
1 c.83C>A - p.P28Q 17.67 1 0.8291 Thompson et al., 2013 DNA SEQ MLH1_00527
1 c.83C>G - p.P28R 41.48 1 0.9711 Thompson et al., 2013 DNA SEQ MLH1_00528
1 c.83C>T - p.P28L 26.92 1 0.9265 Thompson et al., 2013 DNA SEQ MLH1_00529
1 c.85G>A - p.A29T 33.24 0.979 0.949 Thompson et al., 2013 DNA SEQ MLH1_00530
1 c.85G>C - p.A29P 38.15 0.99 0.9639 Thompson et al., 2013 DNA SEQ MLH1_00531
1 c.85G>T - p.A29S 23.39 0.739 0.751 Thompson et al., 2013 DNA SEQ MLH1_00532
1 c.86C>A - p.A29D 43.15 0.99 0.9724 Thompson et al., 2013 DNA SEQ MLH1_00533
1 c.86C>G - p.A29G 22.29 0.986 0.8856 Thompson et al., 2013 DNA SEQ MLH1_00534
1 c.86C>T - p.A29V 35.49 0.986 0.957 Thompson et al., 2013 DNA SEQ MLH1_00535
1 c.88A>C - p.N30H 14.29 1 0.7497 Thompson et al., 2013 DNA SEQ MLH1_00536
1 c.88A>G - p.N30D 29.27 1 0.9385 Thompson et al., 2013 DNA SEQ MLH1_00537
1 c.88A>T - p.N30Y 20.2 1 0.8679 Thompson et al., 2013 DNA SEQ MLH1_00538
1 c.89A>C - p.N30T 16.73 1 0.8108 Thompson et al., 2013 DNA SEQ MLH1_00539
1 c.89A>G - p.N30S 13.4 1 0.7214 Thompson et al., 2013 DNA SEQ MLH1_00540
1 c.89A>T - p.N30I 22.05 1 0.8891 Thompson et al., 2013 DNA SEQ MLH1_00541
1 c.90T>A - p.N30K 25.31 1 0.9164 Thompson et al., 2013 DNA SEQ MLH1_00542
1 c.90T>G - p.N30K 25.31 1 0.9164 Thompson et al., 2013 DNA SEQ MLH1_00543
1 c.91G>A - p.A31T 33.24 1 0.9532 Thompson et al., 2013 DNA SEQ MLH1_00544
1 c.91G>C - p.A31P 38.15 1 0.9653 Thompson et al., 2013 DNA SEQ MLH1_00545
1 c.91G>T - p.A31S 23.39 1 0.9017 Thompson et al., 2013 DNA SEQ MLH1_00546
1 c.92C>A - p.A31D 43.15 1 0.9736 Thompson et al., 2013 DNA SEQ MLH1_00547
1 c.92C>G - p.A31G 22.29 1 0.8915 Thompson et al., 2013 DNA SEQ MLH1_00548
1 c.92C>T - p.A31V 35.49 1 0.9594 Thompson et al., 2013 DNA SEQ MLH1_00549
1 c.94A>C - p.I32L 4.23 0.029 0.003 Thompson et al., 2013 DNA SEQ MLH1_00550
1 c.94A>G - p.I32V 4.55 0.022 0.0034 Thompson et al., 2013 DNA SEQ MLH1_00551
1 c.94A>T - p.I32F 7.24 0.802 0.2159 Thompson et al., 2013 DNA SEQ MLH1_00552
1 c.95T>A - p.I32N 16.27 0.94 0.757 Thompson et al., 2013 DNA SEQ MLH1_00553
1 c.95T>C - p.I32T 15.02 0.599 0.378 Thompson et al., 2013 DNA SEQ MLH1_00554
1 c.95T>G - p.I32S 14.06 0.802 0.554 Thompson et al., 2013 DNA SEQ MLH1_00555
1 c.96C>G - p.I32M 10.8 0.79 0.3934 Thompson et al., 2013 DNA SEQ MLH1_00556
1 c.97A>C - p.K33Q 14.08 1 0.7434 Thompson et al., 2013 DNA SEQ MLH1_00557
1 c.97A>G - p.K33E 23.7 1 0.9043 Thompson et al., 2013 DNA SEQ MLH1_00558
1 c.98A>C - p.K33T 27.99 1 0.9323 Thompson et al., 2013 DNA SEQ MLH1_00559
1 c.98A>G - p.K33R 7.31 1 0.3955 Thompson et al., 2013 DNA SEQ MLH1_00560
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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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