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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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Protein Hide Protein column Descending
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MAPP score Hide MAPP score column Descending
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9 c.736A>C - p.I246L 10.19 0.107 0.03 Thompson et al., 2013 DNA SEQ MLH1_01601
9 c.736A>G - p.I246V 6.74 0.008 0.0079 Thompson et al., 2013 DNA SEQ MLH1_01602
9 c.736A>T - p.I246L 10.19 0.107 0.03 Thompson et al., 2013 DNA SEQ MLH1_01603
9 c.737T>A - p.I246K 28.19 0.775 0.843 Thompson et al., 2013 DNA SEQ MLH1_01604
9 c.737T>C - p.I246T 14.97 0.629 0.4067 Thompson et al., 2013 DNA SEQ MLH1_01605
9 c.737T>G - p.I246R 32.1 0.851 0.9088 Thompson et al., 2013 DNA SEQ MLH1_01606
9 c.738A>G - p.I246M 15.01 0.262 0.1262 Thompson et al., 2013 DNA SEQ MLH1_01607
9 c.739T>A - p.S247T 2.39 0.012 0.0008 Thompson et al., 2013 DNA SEQ MLH1_01608
9 c.739T>C - p.S247P 29.99 0.847 0.8936 Thompson et al., 2013 DNA SEQ MLH1_01609
9 c.739T>G - p.S247A 23.64 0.457 0.4817 Thompson et al., 2013 DNA SEQ MLH1_01610
9 c.740C>A - p.S247Y 8.1 0.879 0.3303 Thompson et al., 2013 DNA SEQ MLH1_01611
9 c.740C>G - p.S247C 20.57 0.923 0.8315 Thompson et al., 2013 DNA SEQ MLH1_01612
9 c.740C>T - p.S247F 22.65 0.923 0.8599 Thompson et al., 2013 DNA SEQ MLH1_01613
9 c.742A>C - p.N248H 14.29 0.997 0.7473 Thompson et al., 2013 DNA SEQ MLH1_01614
9 c.742A>G - p.N248D 29.27 0.995 0.9372 Thompson et al., 2013 DNA SEQ MLH1_01615
9 c.742A>T - p.N248Y 20.2 0.997 0.8665 Thompson et al., 2013 DNA SEQ MLH1_01616
9 c.743A>C - p.N248T 16.73 0.992 0.8055 Thompson et al., 2013 DNA SEQ MLH1_01617
9 c.743A>G - p.N248S 13.4 0.992 0.7145 Thompson et al., 2013 DNA SEQ MLH1_01618
9 c.743A>T - p.N248I 22.05 0.997 0.8879 Thompson et al., 2013 DNA SEQ MLH1_01619
9 c.744T>A - p.N248K 25.31 0.986 0.9117 Thompson et al., 2013 DNA SEQ MLH1_01830
9 c.744T>G - p.N248K 25.31 0.986 0.9117 Thompson et al., 2013 DNA SEQ MLH1_01831
9 c.745G>A - p.A249T 33.24 0.942 0.9408 Thompson et al., 2013 DNA SEQ MLH1_01832
9 c.745G>C - p.A249P 38.15 0.275 0.5592 Thompson et al., 2013 DNA SEQ MLH1_01833
9 c.745G>T - p.A249S 23.39 0.942 0.8775 Thompson et al., 2013 DNA SEQ MLH1_01834
9 c.746C>A - p.A249E 37.64 0.984 0.9619 Thompson et al., 2013 DNA SEQ MLH1_01835
9 c.746C>G - p.A249G 22.29 0.961 0.8744 Thompson et al., 2013 DNA SEQ MLH1_01836
9 c.746C>T - p.A249V 35.49 0.275 0.5184 Thompson et al., 2013 DNA SEQ MLH1_01837
9 c.748A>C - p.N250H 14.29 0.997 0.7473 Thompson et al., 2013 DNA SEQ MLH1_01838
9 c.748A>G - p.N250D 29.27 0.858 0.8928 Thompson et al., 2013 DNA SEQ MLH1_01839
9 c.748A>T - p.N250Y 20.2 0.997 0.8665 Thompson et al., 2013 DNA SEQ MLH1_01840
9 c.749A>C - p.N250T 16.73 0.995 0.8075 Thompson et al., 2013 DNA SEQ MLH1_01841
9 c.749A>G - p.N250S 13.4 0.992 0.7145 Thompson et al., 2013 DNA SEQ MLH1_01842
9 c.749A>T - p.N250I 22.05 0.997 0.8879 Thompson et al., 2013 DNA SEQ MLH1_01843
9 c.750C>A - p.N250K 25.31 0.994 0.9145 Thompson et al., 2013 DNA SEQ MLH1_01844
9 c.750C>G - p.N250K 25.31 0.994 0.9145 Thompson et al., 2013 DNA SEQ MLH1_01845
9 c.751T>A - p.Y251N 20.21 0.995 0.8656 Thompson et al., 2013 DNA SEQ MLH1_01846
9 c.751T>C - p.Y251H 16.1 0.995 0.7936 Thompson et al., 2013 DNA SEQ MLH1_01847
9 c.751T>G - p.Y251D 31.95 0.995 0.948 Thompson et al., 2013 DNA SEQ MLH1_01848
9 c.752A>C - p.Y251S 12.54 0.988 0.6791 Thompson et al., 2013 DNA SEQ MLH1_01849
9 c.752A>G - p.Y251C 5.3 0.595 0.0532 Thompson et al., 2013 DNA SEQ MLH1_01850
9 c.752A>T - p.Y251F 8.22 0.75 0.2274 Thompson et al., 2013 DNA SEQ MLH1_01851
9 c.754T>A - p.S252T 13.44 0.595 0.3171 Thompson et al., 2013 DNA SEQ MLH1_01852
9 c.754T>C - p.S252P 39.26 0.988 0.9658 Thompson et al., 2013 DNA SEQ MLH1_01853
9 c.754T>G - p.S252A 28.89 0.743 0.8321 Thompson et al., 2013 DNA SEQ MLH1_01854
9 c.755C>T - p.S252L 28.64 0.983 0.9311 Thompson et al., 2013 DNA SEQ MLH1_01855
9 c.757G>A - p.V253M 5.7 0.019 0.0057 Thompson et al., 2013 DNA SEQ MLH1_01856
9 c.757G>C - p.V253L 4.59 0.062 0.0042 Thompson et al., 2013 DNA SEQ MLH1_01857
9 c.757G>T - p.V253L 4.59 0.062 0.0042 Thompson et al., 2013 DNA SEQ MLH1_01858
9 c.758T>A - p.V253E 31.2 0.428 0.6066 Thompson et al., 2013 DNA SEQ MLH1_01859
9 c.758T>C - p.V253A 6.29 0.036 0.0076 Thompson et al., 2013 DNA SEQ MLH1_01860
9 c.758T>G - p.V253G 6.63 0.011 0.0077 Thompson et al., 2013 DNA SEQ MLH1_01861
9 c.760A>C - p.K254Q 14.08 0.996 0.7401 Thompson et al., 2013 DNA SEQ MLH1_01862
9 c.760A>G - p.K254E 23.7 0.995 0.9024 Thompson et al., 2013 DNA SEQ MLH1_01863
9 c.761A>C - p.K254T 27.99 0.994 0.9307 Thompson et al., 2013 DNA SEQ MLH1_01864
9 c.761A>G - p.K254R 7.31 0.995 0.3904 Thompson et al., 2013 DNA SEQ MLH1_01865
9 c.761A>T - p.K254M 17.24 0.997 0.8191 Thompson et al., 2013 DNA SEQ MLH1_01866
9 c.762G>C - p.K254N 14.55 0.996 0.7542 Thompson et al., 2013 DNA SEQ MLH1_01867
9 c.762G>T - p.K254N 14.55 0.996 0.7542 Thompson et al., 2013 DNA SEQ MLH1_01868
9 c.763A>C - p.K255Q 11.44 0.989 0.6331 Thompson et al., 2013 DNA SEQ MLH1_01869
9 c.763A>G - p.K255E 21.09 0.984 0.8713 Thompson et al., 2013 DNA SEQ MLH1_01870
9 c.764A>C - p.K255T 24.67 0.993 0.9094 Thompson et al., 2013 DNA SEQ MLH1_01871
9 c.764A>G - p.K255R 4.33 0.645 0.0421 Thompson et al., 2013 DNA SEQ MLH1_01872
9 c.764A>T - p.K255M 14.74 0.995 0.7588 Thompson et al., 2013 DNA SEQ MLH1_01873
9 c.765G>C - p.K255N 13.13 0.989 0.7023 Thompson et al., 2013 DNA SEQ MLH1_01874
9 c.765G>T - p.K255N 13.13 0.989 0.7023 Thompson et al., 2013 DNA SEQ MLH1_01875
9 c.766T>A - p.C256S 8.34 0.023 0.0136 Thompson et al., 2013 DNA SEQ MLH1_01876
9 c.766T>C - p.C256R 27.01 0.745 0.8109 Thompson et al., 2013 DNA SEQ MLH1_01877
9 c.766T>G - p.C256G 10.58 0.046 0.0254 Thompson et al., 2013 DNA SEQ MLH1_01878
9 c.767G>A - p.C256Y 11.54 0.49 0.1736 Thompson et al., 2013 DNA SEQ MLH1_01879
9 c.767G>C - p.C256S 8.34 0.023 0.0136 Thompson et al., 2013 DNA SEQ MLH1_01880
9 c.767G>T - p.C256F 3.16 0.023 0.0015 Thompson et al., 2013 DNA SEQ MLH1_01881
9 c.768C>G - p.C256W 10.88 0.899 0.512 Thompson et al., 2013 DNA SEQ MLH1_01882
9 c.769A>C - p.I257L 10.23 0.387 0.0934 Thompson et al., 2013 DNA SEQ MLH1_01883
9 c.769A>G - p.I257V 4.78 0.154 0.0067 Thompson et al., 2013 DNA SEQ MLH1_01884
9 c.769A>T - p.I257F 8.75 0.915 0.4065 Thompson et al., 2013 DNA SEQ MLH1_01885
9 c.770T>A - p.I257N 15.24 0.947 0.7345 Thompson et al., 2013 DNA SEQ MLH1_01886
9 c.770T>C - p.I257T 13.83 0.154 0.0704 Thompson et al., 2013 DNA SEQ MLH1_01887
9 c.770T>G - p.I257S 13.19 0.81 0.5265 Thompson et al., 2013 DNA SEQ MLH1_01888
9 c.771C>G - p.I257M 14.77 0.396 0.1977 Thompson et al., 2013 DNA SEQ MLH1_01889
9 c.772T>A - p.F258I 8.4 0.594 0.1372 Thompson et al., 2013 DNA SEQ MLH1_01890
9 c.772T>C - p.F258L 7.97 0.05 0.0137 Thompson et al., 2013 DNA SEQ MLH1_01891
9 c.772T>G - p.F258V 13.3 0.594 0.311 Thompson et al., 2013 DNA SEQ MLH1_01892
9 c.773T>A - p.F258Y 13.8 0.868 0.612 Thompson et al., 2013 DNA SEQ MLH1_01893
9 c.773T>C - p.F258S 14.19 0.249 0.1074 Thompson et al., 2013 DNA SEQ MLH1_01894
9 c.773T>G - p.F258C 12.48 0.877 0.5661 Thompson et al., 2013 DNA SEQ MLH1_01895
9 c.774C>A - p.F258L 7.97 0.05 0.0137 Thompson et al., 2013 DNA SEQ MLH1_01896
9 c.774C>G - p.F258L 7.97 0.05 0.0137 Thompson et al., 2013 DNA SEQ MLH1_01897
9 c.775T>A - p.L259I 5.94 0.703 0.1033 Thompson et al., 2013 DNA SEQ MLH1_01898
9 c.775T>G - p.L259V 14.77 0.912 0.6894 Thompson et al., 2013 DNA SEQ MLH1_01899
9 c.776T>C - p.L259S 26.81 0.991 0.9232 Thompson et al., 2013 DNA SEQ MLH1_01900
9 c.777A>C - p.L259F 9.63 0.975 0.5237 Thompson et al., 2013 DNA SEQ MLH1_01901
9 c.777A>T - p.L259F 9.63 0.975 0.5237 Thompson et al., 2013 DNA SEQ MLH1_01902
9 c.778C>A - p.L260I 15.46 0.998 0.7803 Thompson et al., 2013 DNA SEQ MLH1_01903
9 c.778C>G - p.L260V 25.8 0.994 0.9178 Thompson et al., 2013 DNA SEQ MLH1_01904
9 c.778C>T - p.L260F 12.59 0.998 0.6902 Thompson et al., 2013 DNA SEQ MLH1_01905
9 c.779T>A - p.L260H 20.32 1 0.8695 Thompson et al., 2013 DNA SEQ MLH1_01906
9 c.779T>C - p.L260P 36.32 0.999 0.9612 Thompson et al., 2013 DNA SEQ MLH1_01907
9 c.779T>G - p.L260R 33.02 0.999 0.9523 Thompson et al., 2013 DNA SEQ MLH1_01908
9 c.781T>A - p.F261I 10.86 0.999 0.6154 Thompson et al., 2013 DNA SEQ MLH1_01909
9 c.781T>C - p.F261L 12.82 0.999 0.6998 Thompson et al., 2013 DNA SEQ MLH1_01910
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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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