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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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19 c.2231C>T - p.A744V 35.49 0.292 0.5365 Thompson et al., 2013 DNA SEQ MLH1_04901
19 c.2233A>C - p.N745H 11.86 0.763 0.4169 Thompson et al., 2013 DNA SEQ MLH1_04902
19 c.2233A>G - p.N745D 24.47 0.023 0.1366 Thompson et al., 2013 DNA SEQ MLH1_04903
19 c.2233A>T - p.N745Y 10.34 0.842 0.423 Thompson et al., 2013 DNA SEQ MLH1_04904
19 c.2234A>C - p.N745T 7.44 0.396 0.0494 Thompson et al., 2013 DNA SEQ MLH1_04905
19 c.2234A>G - p.N745S 5.75 0.04 0.0063 Thompson et al., 2013 DNA SEQ MLH1_04906
19 c.2234A>T - p.N745I 12.72 0.873 0.5725 Thompson et al., 2013 DNA SEQ MLH1_04907
19 c.2235C>A - p.N745K 25.14 0.64 0.6997 Thompson et al., 2013 DNA SEQ MLH1_04908
19 c.2235C>G - p.N745K 25.14 0.64 0.6997 Thompson et al., 2013 DNA SEQ MLH1_04909
19 c.2236C>A - p.L746M 10.65 0.998 0.6038 Thompson et al., 2013 DNA SEQ MLH1_04910
19 c.2236C>G - p.L746V 25.8 0.997 0.9188 Thompson et al., 2013 DNA SEQ MLH1_04911
19 c.2237T>A - p.L746Q 15.01 0.998 0.7686 Thompson et al., 2013 DNA SEQ MLH1_04912
19 c.2237T>C - p.L746P 36.32 0.998 0.9611 Thompson et al., 2013 DNA SEQ MLH1_04913
19 c.2237T>G - p.L746R 33.02 0.998 0.9521 Thompson et al., 2013 DNA SEQ MLH1_04914
19 c.2239C>A - p.P747T 2.77 0.292 0.0035 Thompson et al., 2013 DNA SEQ MLH1_04915
19 c.2239C>G - p.P747A 12.08 0.901 0.573 Thompson et al., 2013 DNA SEQ MLH1_04916
19 c.2239C>T - p.P747S 7.53 0.872 0.2886 Thompson et al., 2013 DNA SEQ MLH1_04917
19 c.2240C>A - p.P747H 12.56 0.968 0.661 Thompson et al., 2013 DNA SEQ MLH1_04918
19 c.2240C>G - p.P747R 31.52 0.932 0.9311 Thompson et al., 2013 DNA SEQ MLH1_04919
19 c.2240C>T - p.P747L 25.57 0.958 0.9037 Thompson et al., 2013 DNA SEQ MLH1_04920
19 c.2242G>A - p.D748N 14.1 0.276 0.1174 Thompson et al., 2013 DNA SEQ MLH1_04921
19 c.2242G>C - p.D748H 18.66 0.958 0.8211 Thompson et al., 2013 DNA SEQ MLH1_04922
19 c.2242G>T - p.D748Y 15.01 0.932 0.7149 Thompson et al., 2013 DNA SEQ MLH1_04923
19 c.2243A>C - p.D748A 22.12 0.805 0.7787 Thompson et al., 2013 DNA SEQ MLH1_04924
19 c.2243A>G - p.D748G 18.49 0.805 0.7009 Thompson et al., 2013 DNA SEQ MLH1_04925
19 c.2243A>T - p.D748V 23.52 0.862 0.8376 Thompson et al., 2013 DNA SEQ MLH1_04926
19 c.2244T>A - p.D748E 4.6 0.096 0.0048 Thompson et al., 2013 DNA SEQ MLH1_04927
19 c.2244T>G - p.D748E 4.6 0.096 0.0048 Thompson et al., 2013 DNA SEQ MLH1_04928
19 c.2245C>A - p.L749I 15.46 0.997 0.7796 Thompson et al., 2013 DNA SEQ MLH1_04929
19 c.2245C>G - p.L749V 25.8 0.997 0.9188 Thompson et al., 2013 DNA SEQ MLH1_04930
19 c.2246T>A - p.L749Q 15.01 0.998 0.7686 Thompson et al., 2013 DNA SEQ MLH1_04931
19 c.2246T>C - p.L749P 36.32 0.998 0.9611 Thompson et al., 2013 DNA SEQ MLH1_04932
19 c.2246T>G - p.L749R 33.02 0.998 0.9521 Thompson et al., 2013 DNA SEQ MLH1_04933
19 c.2248T>A - p.Y750N 17.86 0.934 0.7896 Thompson et al., 2013 DNA SEQ MLH1_04934
19 c.2248T>C - p.Y750H 16.52 0.934 0.7586 Thompson et al., 2013 DNA SEQ MLH1_04935
19 c.2248T>G - p.Y750D 35.81 0.934 0.9479 Thompson et al., 2013 DNA SEQ MLH1_04936
19 c.2249A>C - p.Y750S 18.59 0.794 0.6936 Thompson et al., 2013 DNA SEQ MLH1_04937
19 c.2249A>G - p.Y750C 23.02 0.169 0.2042 Thompson et al., 2013 DNA SEQ MLH1_04938
19 c.2249A>T - p.Y750F 22.82 0.887 0.8427 Thompson et al., 2013 DNA SEQ MLH1_04939
19 c.2251A>C - p.K751Q 11.6 0.718 0.3595 Thompson et al., 2013 DNA SEQ MLH1_04940
19 c.2251A>G - p.K751E 21.29 0.649 0.6241 Thompson et al., 2013 DNA SEQ MLH1_04941
19 c.2252A>C - p.K751T 24.98 0.808 0.8245 Thompson et al., 2013 DNA SEQ MLH1_04942
19 c.2252A>G - p.K751R 4.57 0.071 0.0043 Thompson et al., 2013 DNA SEQ MLH1_04943
19 c.2252A>T - p.K751I 27.34 0.847 0.8719 Thompson et al., 2013 DNA SEQ MLH1_04944
19 c.2253A>C - p.K751N 13.23 0.718 0.4307 Thompson et al., 2013 DNA SEQ MLH1_04945
19 c.2253A>T - p.K751N 13.23 0.718 0.4307 Thompson et al., 2013 DNA SEQ MLH1_04946
19 c.2254G>A - p.V752I 11.96 0.994 0.661 Thompson et al., 2013 DNA SEQ MLH1_04947
19 c.2254G>C - p.V752L 20.81 0.994 0.8727 Thompson et al., 2013 DNA SEQ MLH1_04948
19 c.2254G>T - p.V752F 21.09 0.998 0.8779 Thompson et al., 2013 DNA SEQ MLH1_04949
19 c.2255T>A - p.V752D 33.13 0.998 0.9525 Thompson et al., 2013 DNA SEQ MLH1_04950
19 c.2255T>C - p.V752A 27.75 0.994 0.9294 Thompson et al., 2013 DNA SEQ MLH1_04951
19 c.2255T>G - p.V752G 23.22 0.997 0.899 Thompson et al., 2013 DNA SEQ MLH1_04952
19 c.2257T>A - p.F753I 10.86 0.997 0.6133 Thompson et al., 2013 DNA SEQ MLH1_04953
19 c.2257T>C - p.F753L 12.82 0.994 0.6953 Thompson et al., 2013 DNA SEQ MLH1_04954
19 c.2257T>G - p.F753V 17.61 0.997 0.8262 Thompson et al., 2013 DNA SEQ MLH1_04955
19 c.2258T>A - p.F753Y 16.28 0.997 0.7991 Thompson et al., 2013 DNA SEQ MLH1_04956
19 c.2258T>C - p.F753S 19.43 0.997 0.8559 Thompson et al., 2013 DNA SEQ MLH1_04957
19 c.2258T>G - p.F753C 17.91 0.999 0.8328 Thompson et al., 2013 DNA SEQ MLH1_04958
19 c.2259T>A - p.F753L 12.82 0.994 0.6953 Thompson et al., 2013 DNA SEQ MLH1_04959
19 c.2259T>G - p.F753L 12.82 0.994 0.6953 Thompson et al., 2013 DNA SEQ MLH1_04960
19 c.2260G>A - p.E754K 19.98 0.997 0.8636 Thompson et al., 2013 DNA SEQ MLH1_04961
19 c.2260G>C - p.E754Q 13.2 0.997 0.7118 Thompson et al., 2013 DNA SEQ MLH1_04962
19 c.2261A>C - p.E754A 24.45 0.997 0.9092 Thompson et al., 2013 DNA SEQ MLH1_04963
19 c.2261A>G - p.E754G 28.23 0.997 0.9328 Thompson et al., 2013 DNA SEQ MLH1_04964
19 c.2261A>T - p.E754V 31.34 0.997 0.9462 Thompson et al., 2013 DNA SEQ MLH1_04965
19 c.2262G>C - p.E754D 13.31 0.994 0.7131 Thompson et al., 2013 DNA SEQ MLH1_04966
19 c.2262G>T - p.E754D 13.31 0.994 0.7131 Thompson et al., 2013 DNA SEQ MLH1_04967
19 c.2263A>G - p.R755G 25.9 0.999 0.92 Thompson et al., 2013 DNA SEQ MLH1_04968
19 c.2263A>T - p.R755W 22.31 0.999 0.8913 Thompson et al., 2013 DNA SEQ MLH1_04969
19 c.2264G>A - p.R755K 6.07 0.994 0.2949 Thompson et al., 2013 DNA SEQ MLH1_04970
19 c.2264G>C - p.R755T 26.48 0.997 0.9231 Thompson et al., 2013 DNA SEQ MLH1_04971
19 c.2264G>T - p.R755M 15.78 0.998 0.7882 Thompson et al., 2013 DNA SEQ MLH1_04972
19 c.2265G>C - p.R755S 21.57 0.999 0.8837 Thompson et al., 2013 DNA SEQ MLH1_04973
19 c.2265G>T - p.R755S 21.57 0.999 0.8837 Thompson et al., 2013 DNA SEQ MLH1_04974
19 c.2266T>A - p.C756S 14.04 0.997 0.7397 Thompson et al., 2013 DNA SEQ MLH1_04975
19 c.2266T>C - p.C756R 34.86 0.998 0.9574 Thompson et al., 2013 DNA SEQ MLH1_04976
19 c.2266T>G - p.C756G 15.41 0.997 0.7783 Thompson et al., 2013 DNA SEQ MLH1_04977
19 c.2267G>A - p.C756Y 21.23 0.998 0.8795 Thompson et al., 2013 DNA SEQ MLH1_04978
19 c.2267G>C - p.C756S 14.04 0.997 0.7397 Thompson et al., 2013 DNA SEQ MLH1_04979
19 c.2267G>T - p.C756F 21.32 0.998 0.8805 Thompson et al., 2013 DNA SEQ MLH1_04980
19 c.2268T>G - p.C756W 32.95 0.999 0.9521 Thompson et al., 2013 DNA SEQ MLH1_04981
4901 - 4981
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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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