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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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4981 entries
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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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19 c.2186T>G - p.L729R 32.1 0.616 0.7856 Thompson et al., 2013 DNA SEQ MLH1_04801
19 c.2188C>A - p.P730T 17.77 0.979 0.8179 Thompson et al., 2013 DNA SEQ MLH1_04802
19 c.2188C>G - p.P730A 20 0.971 0.8503 Thompson et al., 2013 DNA SEQ MLH1_04803
19 c.2188C>T - p.P730S 17.5 0.987 0.8178 Thompson et al., 2013 DNA SEQ MLH1_04804
19 c.2189C>A - p.P730H 19.31 0.984 0.8472 Thompson et al., 2013 DNA SEQ MLH1_04805
19 c.2189C>G - p.P730R 41.48 0.984 0.9692 Thompson et al., 2013 DNA SEQ MLH1_04806
19 c.2189C>T - p.P730L 26.92 0.454 0.552 Thompson et al., 2013 DNA SEQ MLH1_04807
19 c.2191C>A - p.P731T 9.1 0.138 0.0266 Thompson et al., 2013 DNA SEQ MLH1_04808
19 c.2191C>G - p.P731A 6.51 0.247 0.0199 Thompson et al., 2013 DNA SEQ MLH1_04809
19 c.2191C>T - p.P731S 8.66 0.726 0.2302 Thompson et al., 2013 DNA SEQ MLH1_04810
19 c.2192C>A - p.P731H 12.62 0.876 0.5712 Thompson et al., 2013 DNA SEQ MLH1_04811
19 c.2192C>G - p.P731R 36.42 0.922 0.9473 Thompson et al., 2013 DNA SEQ MLH1_04812
19 c.2192C>T - p.P731L 8.28 0.138 0.0216 Thompson et al., 2013 DNA SEQ MLH1_04813
19 c.2194A>C - p.K732Q 2.48 0.413 0.0046 Thompson et al., 2013 DNA SEQ MLH1_04814
19 c.2194A>G - p.K732E 5.91 0.278 0.0183 Thompson et al., 2013 DNA SEQ MLH1_04815
19 c.2195A>C - p.K732T 5.56 0.007 0.0051 Thompson et al., 2013 DNA SEQ MLH1_04816
19 c.2195A>G - p.K732R 1.62 0.539 0.003 Thompson et al., 2013 DNA SEQ MLH1_04817
19 c.2195A>T - p.K732I 5.53 0.491 0.0382 Thompson et al., 2013 DNA SEQ MLH1_04818
19 c.2196A>C - p.K732N 3.06 0.413 0.0074 Thompson et al., 2013 DNA SEQ MLH1_04819
19 c.2196A>T - p.K732N 3.06 0.413 0.0074 Thompson et al., 2013 DNA SEQ MLH1_04820
19 c.2197C>A - p.H733N 2.17 0.01 0.0006 Thompson et al., 2013 DNA SEQ MLH1_04821
19 c.2197C>G - p.H733D 4.12 0.01 0.0026 Thompson et al., 2013 DNA SEQ MLH1_04822
19 c.2197C>T - p.H733Y 3.38 0.043 0.0019 Thompson et al., 2013 DNA SEQ MLH1_04823
19 c.2198A>C - p.H733P 4.71 - 0.0034 Thompson et al., 2013 DNA SEQ MLH1_04824
19 c.2198A>G - p.H733R 2.42 0.001 0.0008 Thompson et al., 2013 DNA SEQ MLH1_04825
19 c.2198A>T - p.H733L 4.96 0.01 0.004 Thompson et al., 2013 DNA SEQ MLH1_04826
19 c.2199T>A - p.H733Q 1.77 0.004 0.0004 Thompson et al., 2013 DNA SEQ MLH1_04827
19 c.2199T>G - p.H733Q 1.77 0.004 0.0004 Thompson et al., 2013 DNA SEQ MLH1_04828
19 c.2200T>A - p.F734I 7.54 0.546 0.0921 Thompson et al., 2013 DNA SEQ MLH1_04829
19 c.2200T>C - p.F734L 6.36 0.04 0.0079 Thompson et al., 2013 DNA SEQ MLH1_04830
19 c.2200T>G - p.F734V 11.19 0.396 0.116 Thompson et al., 2013 DNA SEQ MLH1_04831
19 c.2201T>A - p.F734Y 12.22 0.64 0.3118 Thompson et al., 2013 DNA SEQ MLH1_04832
19 c.2201T>C - p.F734S 10.99 0.709 0.3233 Thompson et al., 2013 DNA SEQ MLH1_04833
19 c.2201T>G - p.F734C 10.05 0.763 0.3293 Thompson et al., 2013 DNA SEQ MLH1_04834
19 c.2202C>A - p.F734L 6.36 0.04 0.0079 Thompson et al., 2013 DNA SEQ MLH1_04835
19 c.2202C>G - p.F734L 6.36 0.04 0.0079 Thompson et al., 2013 DNA SEQ MLH1_04836
19 c.2203A>C - p.T735P 7.55 0.047 0.012 Thompson et al., 2013 DNA SEQ MLH1_04837
19 c.2203A>G - p.T735A 3.54 0.002 0.0018 Thompson et al., 2013 DNA SEQ MLH1_04838
19 c.2203A>T - p.T735S 2.26 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_04839
19 c.2204C>A - p.T735K 33.56 0.027 0.2479 Thompson et al., 2013 DNA SEQ MLH1_04840
19 c.2204C>G - p.T735R 42.3 0.006 0.3377 Thompson et al., 2013 DNA SEQ MLH1_04841
19 c.2204C>T - p.T735I 5.49 0.006 0.0049 Thompson et al., 2013 DNA SEQ MLH1_04842
19 c.2206G>A - p.E736K 5.82 0.121 0.0091 Thompson et al., 2013 DNA SEQ MLH1_04843
19 c.2206G>C - p.E736Q 3.82 0.017 0.0023 Thompson et al., 2013 DNA SEQ MLH1_04844
19 c.2207A>C - p.E736A 7.86 0.072 0.0146 Thompson et al., 2013 DNA SEQ MLH1_04845
19 c.2207A>G - p.E736G 5.66 0.009 0.0053 Thompson et al., 2013 DNA SEQ MLH1_04846
19 c.2207A>T - p.E736V 15.88 0.272 0.1462 Thompson et al., 2013 DNA SEQ MLH1_04847
19 c.2208A>C - p.E736D 4.58 0.005 0.0033 Thompson et al., 2013 DNA SEQ MLH1_04848
19 c.2208A>T - p.E736D 4.58 0.005 0.0033 Thompson et al., 2013 DNA SEQ MLH1_04849
19 c.2209G>A - p.D737N 13.97 0.987 0.7292 Thompson et al., 2013 DNA SEQ MLH1_04850
19 c.2209G>C - p.D737H 20.32 0.99 0.8646 Thompson et al., 2013 DNA SEQ MLH1_04851
19 c.2209G>T - p.D737Y 21.06 0.99 0.8738 Thompson et al., 2013 DNA SEQ MLH1_04852
19 c.2210A>C - p.D737A 29.51 0.983 0.9353 Thompson et al., 2013 DNA SEQ MLH1_04853
19 c.2210A>G - p.D737G 20.85 0.971 0.8619 Thompson et al., 2013 DNA SEQ MLH1_04854
19 c.2210A>T - p.D737V 22.25 0.99 0.8869 Thompson et al., 2013 DNA SEQ MLH1_04855
19 c.2211T>A - p.D737E 23.98 0.917 0.872 Thompson et al., 2013 DNA SEQ MLH1_04856
19 c.2211T>G - p.D737E 23.98 0.917 0.872 Thompson et al., 2013 DNA SEQ MLH1_04857
19 c.2212G>A - p.G738R 6.08 0.307 0.022 Thompson et al., 2013 DNA SEQ MLH1_04858
19 c.2212G>C - p.G738R 6.08 0.307 0.022 Thompson et al., 2013 DNA SEQ MLH1_04859
19 c.2213G>A - p.G738E 5.51 0.879 0.1706 Thompson et al., 2013 DNA SEQ MLH1_04860
19 c.2213G>C - p.G738A 3.61 0.307 0.0068 Thompson et al., 2013 DNA SEQ MLH1_04861
19 c.2213G>T - p.G738V 18.19 0.831 0.7161 Thompson et al., 2013 DNA SEQ MLH1_04862
19 c.2215A>C - p.N739H 12.42 0.241 0.0791 Thompson et al., 2013 DNA SEQ MLH1_04863
19 c.2215A>G - p.N739D 24.4 0.046 0.1478 Thompson et al., 2013 DNA SEQ MLH1_04864
19 c.2215A>T - p.N739Y 7.12 0.188 0.019 Thompson et al., 2013 DNA SEQ MLH1_04865
19 c.2216A>C - p.N739T 1.33 0.001 0.0002 Thompson et al., 2013 DNA SEQ MLH1_04866
19 c.2216A>G - p.N739S 1.4 0.002 0.0002 Thompson et al., 2013 DNA SEQ MLH1_04867
19 c.2216A>T - p.N739I 11.91 0.124 0.0453 Thompson et al., 2013 DNA SEQ MLH1_04868
19 c.2217T>A - p.N739K 26.06 0.046 0.1676 Thompson et al., 2013 DNA SEQ MLH1_04869
19 c.2217T>G - p.N739K 26.06 0.046 0.1676 Thompson et al., 2013 DNA SEQ MLH1_04870
19 c.2218A>C - p.I740L 3.95 0.009 0.0024 Thompson et al., 2013 DNA SEQ MLH1_04871
19 c.2218A>G - p.I740V 4.44 0.002 0.003 Thompson et al., 2013 DNA SEQ MLH1_04872
19 c.2218A>T - p.I740F 5.44 0.016 0.005 Thompson et al., 2013 DNA SEQ MLH1_04873
19 c.2219T>A - p.I740N 13.57 0.541 0.2738 Thompson et al., 2013 DNA SEQ MLH1_04874
19 c.2219T>C - p.I740T 11.31 0.136 0.0425 Thompson et al., 2013 DNA SEQ MLH1_04875
19 c.2219T>G - p.I740S 10.15 0.282 0.0608 Thompson et al., 2013 DNA SEQ MLH1_04876
19 c.2220C>G - p.I740M 8.81 0.178 0.0292 Thompson et al., 2013 DNA SEQ MLH1_04877
19 c.2221C>A - p.L741M 10.65 0.948 0.5519 Thompson et al., 2013 DNA SEQ MLH1_04878
19 c.2221C>G - p.L741V 25.8 0.292 0.3595 Thompson et al., 2013 DNA SEQ MLH1_04879
19 c.2222T>A - p.L741Q 15.01 0.981 0.7554 Thompson et al., 2013 DNA SEQ MLH1_04880
19 c.2222T>C - p.L741P 36.32 0.968 0.956 Thompson et al., 2013 DNA SEQ MLH1_04881
19 c.2222T>G - p.L741R 33.02 0.981 0.9487 Thompson et al., 2013 DNA SEQ MLH1_04882
19 c.2224C>A - p.Q742K 27.25 0.104 0.2219 Thompson et al., 2013 DNA SEQ MLH1_04883
19 c.2224C>G - p.Q742E 26.89 0.072 0.1945 Thompson et al., 2013 DNA SEQ MLH1_04884
19 c.2225A>C - p.Q742P 39.94 0.825 0.9361 Thompson et al., 2013 DNA SEQ MLH1_04885
19 c.2225A>G - p.Q742R 33.7 0.608 0.7982 Thompson et al., 2013 DNA SEQ MLH1_04886
19 c.2225A>T - p.Q742L 19.88 0.825 0.7505 Thompson et al., 2013 DNA SEQ MLH1_04887
19 c.2226G>C - p.Q742H 14.36 0.895 0.6595 Thompson et al., 2013 DNA SEQ MLH1_04888
19 c.2226G>T - p.Q742H 14.36 0.895 0.6595 Thompson et al., 2013 DNA SEQ MLH1_04889
19 c.2227C>A - p.L743I 1.08 0.008 0.0001 Thompson et al., 2013 DNA SEQ MLH1_04890
19 c.2227C>G - p.L743V 6.14 0.002 0.0062 Thompson et al., 2013 DNA SEQ MLH1_04891
19 c.2227C>T - p.L743F 7.03 0.352 0.0365 Thompson et al., 2013 DNA SEQ MLH1_04892
19 c.2228T>A - p.L743H 17.87 0.619 0.4954 Thompson et al., 2013 DNA SEQ MLH1_04893
19 c.2228T>C - p.L743P 22.75 0.553 0.5618 Thompson et al., 2013 DNA SEQ MLH1_04894
19 c.2228T>G - p.L743R 34.47 0.676 0.8476 Thompson et al., 2013 DNA SEQ MLH1_04895
19 c.2230G>A - p.A744T 33.24 0.292 0.4994 Thompson et al., 2013 DNA SEQ MLH1_04896
19 c.2230G>C - p.A744P 38.15 0.958 0.9588 Thompson et al., 2013 DNA SEQ MLH1_04897
19 c.2230G>T - p.A744S 23.39 0.846 0.8263 Thompson et al., 2013 DNA SEQ MLH1_04898
19 c.2231C>A - p.A744D 43.15 0.975 0.9707 Thompson et al., 2013 DNA SEQ MLH1_04899
19 c.2231C>G - p.A744G 22.29 0.966 0.8767 Thompson et al., 2013 DNA SEQ MLH1_04900
4801 - 4900
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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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