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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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16 c.1732G>A - p.E578K 4.84 0.318 0.0138 Thompson et al., 2013 DNA SEQ MLH1_03801
16 c.1732G>C - p.E578Q 2.81 0.461 0.0075 Thompson et al., 2013 DNA SEQ MLH1_03802
16 c.1733A>C - p.E578A 9.26 0.24 0.0421 Thompson et al., 2013 DNA SEQ MLH1_03803
16 c.1733A>G - p.E578G 8 0.034 0.0129 Thompson et al., 2013 DNA SEQ MLH1_03804
16 c.1733A>T - p.E578V 12.59 0.366 0.1311 Thompson et al., 2013 DNA SEQ MLH1_03805
16 c.1734G>C - p.E578D 2.81 0.067 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03806
16 c.1734G>T - p.E578D 2.81 0.067 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03807
16 c.1735C>A - p.P579T 5.31 0.138 0.008 Thompson et al., 2013 DNA SEQ MLH1_03808
16 c.1735C>G - p.P579A 4.46 0.24 0.0083 Thompson et al., 2013 DNA SEQ MLH1_03809
16 c.1735C>T - p.P579S 5.13 0.138 0.0074 Thompson et al., 2013 DNA SEQ MLH1_03810
16 c.1736C>A - p.P579Q 9.19 0.843 0.3604 Thompson et al., 2013 DNA SEQ MLH1_03811
16 c.1736C>G - p.P579R 34.39 0.899 0.9347 Thompson et al., 2013 DNA SEQ MLH1_03812
16 c.1736C>T - p.P579L 7.78 0.867 0.2995 Thompson et al., 2013 DNA SEQ MLH1_03813
16 c.1738G>A - p.A580T 33.24 0.64 0.8146 Thompson et al., 2013 DNA SEQ MLH1_03814
16 c.1738G>C - p.A580P 38.15 0.03 0.3088 Thompson et al., 2013 DNA SEQ MLH1_03815
16 c.1738G>T - p.A580S 23.39 0.493 0.514 Thompson et al., 2013 DNA SEQ MLH1_03816
16 c.1739C>A - p.A580E 37.64 0.802 0.9207 Thompson et al., 2013 DNA SEQ MLH1_03817
16 c.1739C>G - p.A580G 22.29 0.731 0.7232 Thompson et al., 2013 DNA SEQ MLH1_03818
16 c.1739C>T - p.A580V 35.49 0.397 0.6441 Thompson et al., 2013 DNA SEQ MLH1_03819
16 c.1741C>A - p.P581T 17.77 0.872 0.7401 Thompson et al., 2013 DNA SEQ MLH1_03820
16 c.1741C>G - p.P581A 20 0.846 0.7693 Thompson et al., 2013 DNA SEQ MLH1_03821
16 c.1741C>T - p.P581S 17.5 0.19 0.1309 Thompson et al., 2013 DNA SEQ MLH1_03822
16 c.1742C>A - p.P581Q 17.67 0.948 0.7954 Thompson et al., 2013 DNA SEQ MLH1_03823
16 c.1742C>G - p.P581R 41.48 0.968 0.9671 Thompson et al., 2013 DNA SEQ MLH1_03824
16 c.1742C>T - p.P581L 26.92 0.975 0.919 Thompson et al., 2013 DNA SEQ MLH1_03825
16 c.1744C>A - p.L582I 2.88 0.202 0.0026 Thompson et al., 2013 DNA SEQ MLH1_03826
16 c.1744C>G - p.L582V 11.33 0.428 0.134 Thompson et al., 2013 DNA SEQ MLH1_03827
16 c.1744C>T - p.L582F 8.84 0.923 0.4204 Thompson et al., 2013 DNA SEQ MLH1_03828
16 c.1745T>A - p.L582H 19.96 0.964 0.8458 Thompson et al., 2013 DNA SEQ MLH1_03829
16 c.1745T>C - p.L582P 34.01 0.964 0.9484 Thompson et al., 2013 DNA SEQ MLH1_03830
16 c.1745T>G - p.L582R 35.28 0.964 0.9524 Thompson et al., 2013 DNA SEQ MLH1_03831
16 c.1747T>A - p.F583I 3.86 0.194 0.0049 Thompson et al., 2013 DNA SEQ MLH1_03832
16 c.1747T>C - p.F583L 5.68 0.074 0.0071 Thompson et al., 2013 DNA SEQ MLH1_03833
16 c.1747T>G - p.F583V 3.47 0.046 0.0021 Thompson et al., 2013 DNA SEQ MLH1_03834
16 c.1748T>A - p.F583Y 1.51 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_03835
16 c.1748T>C - p.F583S 2.68 0.046 0.0012 Thompson et al., 2013 DNA SEQ MLH1_03836
16 c.1748T>G - p.F583C 2.76 0.54 0.01 Thompson et al., 2013 DNA SEQ MLH1_03837
16 c.1749T>A - p.F583L 5.68 0.074 0.0071 Thompson et al., 2013 DNA SEQ MLH1_03838
16 c.1749T>G - p.F583L 5.68 0.074 0.0071 Thompson et al., 2013 DNA SEQ MLH1_03839
16 c.1750G>A - p.D584N 5.63 0.056 0.0064 Thompson et al., 2013 DNA SEQ MLH1_03840
16 c.1750G>C - p.D584H 7.08 0.555 0.0837 Thompson et al., 2013 DNA SEQ MLH1_03841
16 c.1750G>T - p.D584Y 7.87 0.679 0.1646 Thompson et al., 2013 DNA SEQ MLH1_03842
16 c.1751A>C - p.D584A 20.55 0.185 0.1751 Thompson et al., 2013 DNA SEQ MLH1_03843
16 c.1751A>G - p.D584G 11.46 0.185 0.0534 Thompson et al., 2013 DNA SEQ MLH1_03844
16 c.1751A>T - p.D584V 28.97 0.364 0.498 Thompson et al., 2013 DNA SEQ MLH1_03845
16 c.1752C>A - p.D584E 1.21 0.003 0.0002 Thompson et al., 2013 DNA SEQ MLH1_03846
16 c.1752C>G - p.D584E 1.21 0.003 0.0002 Thompson et al., 2013 DNA SEQ MLH1_03847
16 c.1753C>A - p.L585I 5.83 0.737 0.1132 Thompson et al., 2013 DNA SEQ MLH1_03848
16 c.1753C>G - p.L585V 14.64 0.737 0.5079 Thompson et al., 2013 DNA SEQ MLH1_03849
16 c.1753C>T - p.L585F 9.6 0.046 0.0204 Thompson et al., 2013 DNA SEQ MLH1_03850
16 c.1754T>A - p.L585H 21.39 0.835 0.7875 Thompson et al., 2013 DNA SEQ MLH1_03851
16 c.1754T>C - p.L585P 35.74 0.934 0.9477 Thompson et al., 2013 DNA SEQ MLH1_03852
16 c.1754T>G - p.L585R 34.87 0.412 0.6496 Thompson et al., 2013 DNA SEQ MLH1_03853
16 c.1756G>A - p.A586T 12.92 0.726 0.4258 Thompson et al., 2013 DNA SEQ MLH1_03854
16 c.1756G>C - p.A586P 31.9 0.843 0.9048 Thompson et al., 2013 DNA SEQ MLH1_03855
16 c.1756G>T - p.A586S 12.45 0.138 0.0528 Thompson et al., 2013 DNA SEQ MLH1_03856
16 c.1757C>A - p.A586D 42.73 0.843 0.9486 Thompson et al., 2013 DNA SEQ MLH1_03857
16 c.1757C>G - p.A586G 15.72 0.681 0.4887 Thompson et al., 2013 DNA SEQ MLH1_03858
16 c.1757C>T - p.A586V 9.41 0.063 0.021 Thompson et al., 2013 DNA SEQ MLH1_03859
16 c.1759A>C - p.M587L 7.2 0.032 0.0101 Thompson et al., 2013 DNA SEQ MLH1_03860
16 c.1759A>G - p.M587V 27.32 0.488 0.5956 Thompson et al., 2013 DNA SEQ MLH1_03861
16 c.1759A>T - p.M587L 7.2 0.032 0.0101 Thompson et al., 2013 DNA SEQ MLH1_03862
16 c.1760T>A - p.M587K 32.45 0.927 0.9339 Thompson et al., 2013 DNA SEQ MLH1_03863
16 c.1760T>C - p.M587T 22.44 0.883 0.8352 Thompson et al., 2013 DNA SEQ MLH1_03864
16 c.1760T>G - p.M587R 38.04 0.912 0.95 Thompson et al., 2013 DNA SEQ MLH1_03865
16 c.1761G>A - p.M587I 18.01 0.533 0.4093 Thompson et al., 2013 DNA SEQ MLH1_03866
16 c.1761G>C - p.M587I 18.01 0.533 0.4093 Thompson et al., 2013 DNA SEQ MLH1_03867
16 c.1761G>T - p.M587I 18.01 0.533 0.4093 Thompson et al., 2013 DNA SEQ MLH1_03868
16 c.1762C>A - p.L588I 5.48 0.307 0.0175 Thompson et al., 2013 DNA SEQ MLH1_03869
16 c.1762C>G - p.L588V 13.87 0.57 0.3095 Thompson et al., 2013 DNA SEQ MLH1_03870
16 c.1762C>T - p.L588F 8.65 0.879 0.3641 Thompson et al., 2013 DNA SEQ MLH1_03871
16 c.1763T>A - p.L588H 18.04 0.964 0.8135 Thompson et al., 2013 DNA SEQ MLH1_03872
16 c.1763T>C - p.L588P 33.64 0.964 0.9472 Thompson et al., 2013 DNA SEQ MLH1_03873
16 c.1763T>G - p.L588R 37.5 0.964 0.9583 Thompson et al., 2013 DNA SEQ MLH1_03874
16 c.1765G>A - p.A589T 22.75 0.966 0.8816 Thompson et al., 2013 DNA SEQ MLH1_03875
16 c.1765G>C - p.A589P 18.79 0.975 0.8337 Thompson et al., 2013 DNA SEQ MLH1_03876
16 c.1765G>T - p.A589S 11.09 0.901 0.525 Thompson et al., 2013 DNA SEQ MLH1_03877
16 c.1766C>A - p.A589D 40.45 0.958 0.9637 Thompson et al., 2013 DNA SEQ MLH1_03878
16 c.1766C>G - p.A589G 5.64 0.118 0.0084 Thompson et al., 2013 DNA SEQ MLH1_03879
16 c.1766C>T - p.A589V 31.11 0.966 0.9381 Thompson et al., 2013 DNA SEQ MLH1_03880
16 c.1768T>A - p.L590I 15.46 0.969 0.7584 Thompson et al., 2013 DNA SEQ MLH1_03881
16 c.1768T>G - p.L590V 25.8 0.917 0.8894 Thompson et al., 2013 DNA SEQ MLH1_03882
16 c.1769T>C - p.L590S 22.76 0.965 0.8813 Thompson et al., 2013 DNA SEQ MLH1_03883
16 c.1770A>C - p.L590F 12.59 0.965 0.6594 Thompson et al., 2013 DNA SEQ MLH1_03884
16 c.1770A>T - p.L590F 12.59 0.965 0.6594 Thompson et al., 2013 DNA SEQ MLH1_03885
16 c.1771G>A - p.D591N 5.57 0.172 0.0103 Thompson et al., 2013 DNA SEQ MLH1_03886
16 c.1771G>C - p.D591H 7.45 0.882 0.2923 Thompson et al., 2013 DNA SEQ MLH1_03887
16 c.1771G>T - p.D591Y 8.39 0.926 0.3949 Thompson et al., 2013 DNA SEQ MLH1_03888
16 c.1772A>C - p.D591A 19.68 0.576 0.5044 Thompson et al., 2013 DNA SEQ MLH1_03889
16 c.1772A>G - p.D591G 10.73 0.576 0.2043 Thompson et al., 2013 DNA SEQ MLH1_03890
16 c.1772A>T - p.D591V 28.18 0.773 0.8418 Thompson et al., 2013 DNA SEQ MLH1_03891
16 c.1773T>A - p.D591E 2.37 0.055 0.0009 Thompson et al., 2013 DNA SEQ MLH1_03892
16 c.1773T>G - p.D591E 2.37 0.055 0.0009 Thompson et al., 2013 DNA SEQ MLH1_03893
16 c.1774A>C - p.S592R 9.94 0.383 0.0867 Thompson et al., 2013 DNA SEQ MLH1_03894
16 c.1774A>G - p.S592G 6.26 0.121 0.0108 Thompson et al., 2013 DNA SEQ MLH1_03895
16 c.1774A>T - p.S592C 5.14 0.403 0.0226 Thompson et al., 2013 DNA SEQ MLH1_03896
16 c.1775G>A - p.S592N 2.55 0.015 0.0009 Thompson et al., 2013 DNA SEQ MLH1_03897
16 c.1775G>C - p.S592T 2.67 0.015 0.001 Thompson et al., 2013 DNA SEQ MLH1_03898
16 c.1775G>T - p.S592I 9.17 0.202 0.0353 Thompson et al., 2013 DNA SEQ MLH1_03899
16 c.1776T>A - p.S592R 9.94 0.383 0.0867 Thompson et al., 2013 DNA SEQ MLH1_03900
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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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