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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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Reference Hide Reference column Descending
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Template Hide Template column Descending
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Technique Hide Technique column Descending
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DB-ID Hide DB-ID column Descending
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3 c.231T>G - p.C77W 32.95 1 0.9523 Thompson et al., 2013 DNA SEQ MLH1_00831
3 c.232G>A - p.E78K 19.98 1 0.8651 Thompson et al., 2013 DNA SEQ MLH1_00832
3 c.232G>C - p.E78Q 13.2 1 0.7144 Thompson et al., 2013 DNA SEQ MLH1_00833
3 c.233A>C - p.E78A 24.45 1 0.9102 Thompson et al., 2013 DNA SEQ MLH1_00834
3 c.233A>G - p.E78G 28.23 1 0.9336 Thompson et al., 2013 DNA SEQ MLH1_00835
3 c.233A>T - p.E78V 31.34 1 0.9468 Thompson et al., 2013 DNA SEQ MLH1_00836
3 c.234A>C - p.E78D 13.31 1 0.7183 Thompson et al., 2013 DNA SEQ MLH1_00837
3 c.234A>T - p.E78D 13.31 1 0.7183 Thompson et al., 2013 DNA SEQ MLH1_00838
3 c.235A>G - p.R79G 25.9 1 0.9204 Thompson et al., 2013 DNA SEQ MLH1_00839
3 c.235A>T - p.R79W 22.31 1 0.8917 Thompson et al., 2013 DNA SEQ MLH1_00840
3 c.236G>A - p.R79K 6.07 0.999 0.2993 Thompson et al., 2013 DNA SEQ MLH1_00841
3 c.236G>C - p.R79T 26.48 0.999 0.9237 Thompson et al., 2013 DNA SEQ MLH1_00842
3 c.236G>T - p.R79M 15.78 1 0.7896 Thompson et al., 2013 DNA SEQ MLH1_00843
3 c.237G>C - p.R79S 21.57 1 0.8841 Thompson et al., 2013 DNA SEQ MLH1_00844
3 c.237G>T - p.R79S 21.57 1 0.8841 Thompson et al., 2013 DNA SEQ MLH1_00845
3 c.238T>A - p.F80I 10.86 0.999 0.6154 Thompson et al., 2013 DNA SEQ MLH1_00846
3 c.238T>C - p.F80L 12.82 0.999 0.6998 Thompson et al., 2013 DNA SEQ MLH1_00847
3 c.238T>G - p.F80V 17.61 0.999 0.8274 Thompson et al., 2013 DNA SEQ MLH1_00848
3 c.239T>A - p.F80Y 16.28 0.999 0.8004 Thompson et al., 2013 DNA SEQ MLH1_00849
3 c.239T>C - p.F80S 19.43 1 0.8575 Thompson et al., 2013 DNA SEQ MLH1_00850
3 c.239T>G - p.F80C 17.91 1 0.8334 Thompson et al., 2013 DNA SEQ MLH1_00851
3 c.240C>A - p.F80L 12.82 0.999 0.6998 Thompson et al., 2013 DNA SEQ MLH1_00852
3 c.240C>G - p.F80L 12.82 0.999 0.6998 Thompson et al., 2013 DNA SEQ MLH1_00853
3 c.241A>C - p.T81P 43.72 1 0.9743 Thompson et al., 2013 DNA SEQ MLH1_00854
3 c.241A>G - p.T81A 37.99 1 0.965 Thompson et al., 2013 DNA SEQ MLH1_00855
3 c.241A>T - p.T81S 11.33 1 0.6388 Thompson et al., 2013 DNA SEQ MLH1_00856
3 c.242C>A - p.T81N 20.18 1 0.8677 Thompson et al., 2013 DNA SEQ MLH1_00857
3 c.242C>G - p.T81S 11.33 1 0.6388 Thompson et al., 2013 DNA SEQ MLH1_00858
3 c.242C>T - p.T81I 33.48 1 0.9539 Thompson et al., 2013 DNA SEQ MLH1_00859
3 c.244A>C - p.T82P 43.72 1 0.9743 Thompson et al., 2013 DNA SEQ MLH1_00860
3 c.244A>G - p.T82A 37.99 1 0.965 Thompson et al., 2013 DNA SEQ MLH1_00861
3 c.244A>T - p.T82S 11.33 1 0.6388 Thompson et al., 2013 DNA SEQ MLH1_00862
3 c.245C>A - p.T82N 20.18 1 0.8677 Thompson et al., 2013 DNA SEQ MLH1_00863
3 c.245C>G - p.T82S 11.33 1 0.6388 Thompson et al., 2013 DNA SEQ MLH1_00864
3 c.245C>T - p.T82I 33.48 1 0.9539 Thompson et al., 2013 DNA SEQ MLH1_00865
3 c.247A>C - p.S83R 36.37 1 0.9615 Thompson et al., 2013 DNA SEQ MLH1_00866
3 c.247A>G - p.S83G 9.08 0.999 0.5159 Thompson et al., 2013 DNA SEQ MLH1_00867
3 c.247A>T - p.S83C 20.41 1 0.8706 Thompson et al., 2013 DNA SEQ MLH1_00868
3 c.248G>A - p.S83N 14.09 0.999 0.7429 Thompson et al., 2013 DNA SEQ MLH1_00869
3 c.248G>C - p.S83T 13.44 0.999 0.7219 Thompson et al., 2013 DNA SEQ MLH1_00870
3 c.248G>T - p.S83I 29.33 1 0.9387 Thompson et al., 2013 DNA SEQ MLH1_00871
3 c.249T>A - p.S83R 36.37 1 0.9615 Thompson et al., 2013 DNA SEQ MLH1_00872
3 c.249T>G - p.S83R 36.37 1 0.9615 Thompson et al., 2013 DNA SEQ MLH1_00873
3 c.250A>C - p.K84Q 14.08 1 0.7434 Thompson et al., 2013 DNA SEQ MLH1_00874
3 c.250A>G - p.K84E 23.7 1 0.9043 Thompson et al., 2013 DNA SEQ MLH1_00875
3 c.251A>C - p.K84T 27.99 1 0.9323 Thompson et al., 2013 DNA SEQ MLH1_00876
3 c.251A>G - p.K84R 7.31 1 0.3955 Thompson et al., 2013 DNA SEQ MLH1_00877
3 c.251A>T - p.K84I 25.96 1 0.9207 Thompson et al., 2013 DNA SEQ MLH1_00878
3 c.252A>C - p.K84N 14.55 1 0.7573 Thompson et al., 2013 DNA SEQ MLH1_00879
3 c.252A>T - p.K84N 14.55 1 0.7573 Thompson et al., 2013 DNA SEQ MLH1_00880
3 c.253C>A - p.L85M 10.65 1 0.6058 Thompson et al., 2013 DNA SEQ MLH1_00881
3 c.253C>G - p.L85V 25.8 1 0.9197 Thompson et al., 2013 DNA SEQ MLH1_00882
3 c.254T>A - p.L85Q 15.01 1 0.7701 Thompson et al., 2013 DNA SEQ MLH1_00883
3 c.254T>C - p.L85P 36.32 1 0.9614 Thompson et al., 2013 DNA SEQ MLH1_00884
3 c.254T>G - p.L85R 33.02 1 0.9525 Thompson et al., 2013 DNA SEQ MLH1_00885
3 c.256C>A - p.Q86K 1.53 0.036 0.0003 Thompson et al., 2013 DNA SEQ MLH1_00886
3 c.256C>G - p.Q86E 4.27 0.159 0.0053 Thompson et al., 2013 DNA SEQ MLH1_00887
3 c.257A>C - p.Q86P 17.42 0.614 0.4756 Thompson et al., 2013 DNA SEQ MLH1_00888
3 c.257A>G - p.Q86R 3.34 0.021 0.0017 Thompson et al., 2013 DNA SEQ MLH1_00889
3 c.257A>T - p.Q86L 10.57 0.371 0.0939 Thompson et al., 2013 DNA SEQ MLH1_00890
3 c.258G>C - p.Q86H 5.77 0.742 0.113 Thompson et al., 2013 DNA SEQ MLH1_00891
3 c.258G>T - p.Q86H 5.77 0.742 0.113 Thompson et al., 2013 DNA SEQ MLH1_00892
3 c.259T>A - p.S87T 8.12 0.002 0.0117 Thompson et al., 2013 DNA SEQ MLH1_00893
3 c.259T>C - p.S87P 12.47 0.16 0.0578 Thompson et al., 2013 DNA SEQ MLH1_00894
3 c.259T>G - p.S87A 5.06 0.014 0.0042 Thompson et al., 2013 DNA SEQ MLH1_00895
3 c.260C>A - p.S87Y 11.09 0.34 0.092 Thompson et al., 2013 DNA SEQ MLH1_00896
3 c.260C>G - p.S87C 9.2 0.041 0.0182 Thompson et al., 2013 DNA SEQ MLH1_00897
3 c.260C>T - p.S87F 8.67 0.34 0.0547 Thompson et al., 2013 DNA SEQ MLH1_00898
3 c.262T>A - p.F88I 10.86 0.999 0.6154 Thompson et al., 2013 DNA SEQ MLH1_00899
3 c.262T>C - p.F88L 12.82 0.999 0.6998 Thompson et al., 2013 DNA SEQ MLH1_00900
3 c.262T>G - p.F88V 17.61 0.998 0.8268 Thompson et al., 2013 DNA SEQ MLH1_00901
3 c.263T>A - p.F88Y 16.28 0.927 0.7469 Thompson et al., 2013 DNA SEQ MLH1_00902
3 c.263T>C - p.F88S 19.43 0.999 0.857 Thompson et al., 2013 DNA SEQ MLH1_00903
3 c.263T>G - p.F88C 17.91 1 0.8334 Thompson et al., 2013 DNA SEQ MLH1_00904
3 c.264T>A - p.F88L 12.82 0.999 0.6998 Thompson et al., 2013 DNA SEQ MLH1_00905
3 c.264T>G - p.F88L 12.82 0.999 0.6998 Thompson et al., 2013 DNA SEQ MLH1_00906
3 c.265G>A - p.E89K 6.02 0.964 0.2653 Thompson et al., 2013 DNA SEQ MLH1_00907
3 c.265G>C - p.E89Q 6.24 0.984 0.299 Thompson et al., 2013 DNA SEQ MLH1_00908
3 c.266A>C - p.E89A 19.98 0.987 0.8585 Thompson et al., 2013 DNA SEQ MLH1_00909
3 c.266A>G - p.E89G 11.45 0.964 0.6085 Thompson et al., 2013 DNA SEQ MLH1_00910
3 c.266A>T - p.E89V 27.74 0.99 0.9283 Thompson et al., 2013 DNA SEQ MLH1_00911
3 c.267G>C - p.E89D 3 0.386 0.0063 Thompson et al., 2013 DNA SEQ MLH1_00912
3 c.267G>T - p.E89D 3 0.386 0.0063 Thompson et al., 2013 DNA SEQ MLH1_00913
3 c.268G>A - p.D90N 13.97 1 0.74 Thompson et al., 2013 DNA SEQ MLH1_00914
3 c.268G>C - p.D90H 20.32 1 0.8695 Thompson et al., 2013 DNA SEQ MLH1_00915
3 c.268G>T - p.D90Y 21.06 1 0.8784 Thompson et al., 2013 DNA SEQ MLH1_00916
3 c.269A>C - p.D90A 29.51 1 0.9395 Thompson et al., 2013 DNA SEQ MLH1_00917
3 c.269A>G - p.D90G 20.85 1 0.876 Thompson et al., 2013 DNA SEQ MLH1_00918
3 c.269A>T - p.D90V 22.25 1 0.8911 Thompson et al., 2013 DNA SEQ MLH1_00919
3 c.270T>A - p.D90E 23.98 1 0.9066 Thompson et al., 2013 DNA SEQ MLH1_00920
3 c.270T>G - p.D90E 23.98 1 0.9066 Thompson et al., 2013 DNA SEQ MLH1_00921
3 c.271T>A - p.L91I 15.46 1 0.7817 Thompson et al., 2013 DNA SEQ MLH1_00922
3 c.271T>G - p.L91V 25.8 1 0.9197 Thompson et al., 2013 DNA SEQ MLH1_00923
3 c.272T>C - p.L91S 22.76 1 0.896 Thompson et al., 2013 DNA SEQ MLH1_00924
3 c.273A>C - p.L91F 12.59 1 0.692 Thompson et al., 2013 DNA SEQ MLH1_00925
3 c.273A>T - p.L91F 12.59 1 0.692 Thompson et al., 2013 DNA SEQ MLH1_00926
3 c.274G>A - p.A92T 3.75 0.012 0.0021 Thompson et al., 2013 DNA SEQ MLH1_00927
3 c.274G>C - p.A92P 7.93 0.465 0.0746 Thompson et al., 2013 DNA SEQ MLH1_00928
3 c.274G>T - p.A92S 1.32 0.012 0.0002 Thompson et al., 2013 DNA SEQ MLH1_00929
3 c.275C>A - p.A92D 5.71 0.25 0.0151 Thompson et al., 2013 DNA SEQ MLH1_00930
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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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