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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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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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6 c.461A>G - p.D154G 20.85 0.991 0.8717 Thompson et al., 2013 DNA SEQ MLH1_01001
6 c.461A>T - p.D154V 22.25 0.996 0.8895 Thompson et al., 2013 DNA SEQ MLH1_01002
6 c.462C>A - p.D154E 23.98 0.907 0.8672 Thompson et al., 2013 DNA SEQ MLH1_01003
6 c.462C>G - p.D154E 23.98 0.907 0.8672 Thompson et al., 2013 DNA SEQ MLH1_01004
6 c.463C>A - p.L155I 15.46 0.995 0.7781 Thompson et al., 2013 DNA SEQ MLH1_01005
6 c.463C>G - p.L155V 25.8 0.986 0.9152 Thompson et al., 2013 DNA SEQ MLH1_01006
6 c.463C>T - p.L155F 12.59 0.997 0.6893 Thompson et al., 2013 DNA SEQ MLH1_01007
6 c.464T>A - p.L155H 20.32 0.999 0.869 Thompson et al., 2013 DNA SEQ MLH1_01008
6 c.464T>C - p.L155P 36.32 0.997 0.9609 Thompson et al., 2013 DNA SEQ MLH1_01009
6 c.464T>G - p.L155R 33.02 0.998 0.9521 Thompson et al., 2013 DNA SEQ MLH1_01010
6 c.466T>A - p.F156I 10.86 0.998 0.6143 Thompson et al., 2013 DNA SEQ MLH1_01011
6 c.466T>C - p.F156L 12.82 0.997 0.698 Thompson et al., 2013 DNA SEQ MLH1_01012
6 c.466T>G - p.F156V 17.61 0.998 0.8268 Thompson et al., 2013 DNA SEQ MLH1_01013
6 c.467T>A - p.F156Y 16.28 0.997 0.7991 Thompson et al., 2013 DNA SEQ MLH1_01014
6 c.467T>C - p.F156S 19.43 0.998 0.8565 Thompson et al., 2013 DNA SEQ MLH1_01015
6 c.467T>G - p.F156C 17.91 0.999 0.8328 Thompson et al., 2013 DNA SEQ MLH1_01016
6 c.468T>A - p.F156L 12.82 0.997 0.698 Thompson et al., 2013 DNA SEQ MLH1_01017
6 c.468T>G - p.F156L 12.82 0.997 0.698 Thompson et al., 2013 DNA SEQ MLH1_01018
6 c.469T>A - p.Y157N 17.86 0.987 0.8246 Thompson et al., 2013 DNA SEQ MLH1_01019
6 c.469T>C - p.Y157H 16.52 0.794 0.6339 Thompson et al., 2013 DNA SEQ MLH1_01020
6 c.469T>G - p.Y157D 35.81 0.987 0.958 Thompson et al., 2013 DNA SEQ MLH1_01021
6 c.470A>C - p.Y157S 18.59 0.983 0.8351 Thompson et al., 2013 DNA SEQ MLH1_01022
6 c.470A>G - p.Y157C 23.02 0.995 0.8964 Thompson et al., 2013 DNA SEQ MLH1_01023
6 c.470A>T - p.Y157F 22.82 0.387 0.389 Thompson et al., 2013 DNA SEQ MLH1_01024
6 c.472A>C - p.N158H 14.29 0.997 0.7473 Thompson et al., 2013 DNA SEQ MLH1_01025
6 c.472A>G - p.N158D 29.27 0.995 0.9372 Thompson et al., 2013 DNA SEQ MLH1_01026
6 c.472A>T - p.N158Y 20.2 0.997 0.8665 Thompson et al., 2013 DNA SEQ MLH1_01027
6 c.473A>C - p.N158T 16.73 0.852 0.6952 Thompson et al., 2013 DNA SEQ MLH1_01028
6 c.473A>G - p.N158S 13.4 0.852 0.5795 Thompson et al., 2013 DNA SEQ MLH1_01029
6 c.473A>T - p.N158I 22.05 0.997 0.8879 Thompson et al., 2013 DNA SEQ MLH1_01030
6 c.474C>A - p.N158K 25.31 0.994 0.9145 Thompson et al., 2013 DNA SEQ MLH1_01031
6 c.474C>G - p.N158K 25.31 0.994 0.9145 Thompson et al., 2013 DNA SEQ MLH1_01032
6 c.475A>C - p.I159L 14.31 0.028 0.0456 Thompson et al., 2013 DNA SEQ MLH1_01033
6 c.475A>G - p.I159V 0.96 - 0.0001 Thompson et al., 2013 DNA SEQ MLH1_01034
6 c.475A>T - p.I159L 14.31 0.028 0.0456 Thompson et al., 2013 DNA SEQ MLH1_01035
6 c.476T>A - p.I159K 28.42 0.116 0.2483 Thompson et al., 2013 DNA SEQ MLH1_01036
6 c.476T>C - p.I159T 13.77 0.005 0.0382 Thompson et al., 2013 DNA SEQ MLH1_01037
6 c.476T>G - p.I159R 31.97 0.371 0.5611 Thompson et al., 2013 DNA SEQ MLH1_01038
6 c.477A>G - p.I159M 18.47 0.01 0.0733 Thompson et al., 2013 DNA SEQ MLH1_01039
6 c.478G>A - p.A160T 3.92 0.006 0.0023 Thompson et al., 2013 DNA SEQ MLH1_01040
6 c.478G>C - p.A160P 3.23 0.001 0.0015 Thompson et al., 2013 DNA SEQ MLH1_01041
6 c.478G>T - p.A160S 2.86 - 0.0011 Thompson et al., 2013 DNA SEQ MLH1_01042
6 c.479C>A - p.A160D 27.09 0.003 0.1547 Thompson et al., 2013 DNA SEQ MLH1_01043
6 c.479C>G - p.A160G 3.73 0.027 0.0022 Thompson et al., 2013 DNA SEQ MLH1_01044
6 c.479C>T - p.A160V 4.48 0.011 0.0032 Thompson et al., 2013 DNA SEQ MLH1_01045
6 c.481A>C - p.T161P 32.57 0.709 0.8491 Thompson et al., 2013 DNA SEQ MLH1_01046
6 c.481A>G - p.T161A 26.78 0.271 0.3583 Thompson et al., 2013 DNA SEQ MLH1_01047
6 c.481A>T - p.T161S 3.69 0.068 0.0026 Thompson et al., 2013 DNA SEQ MLH1_01048
6 c.482C>A - p.T161K 27.95 0.64 0.7477 Thompson et al., 2013 DNA SEQ MLH1_01049
6 c.482C>G - p.T161R 33.57 0.802 0.8996 Thompson et al., 2013 DNA SEQ MLH1_01050
6 c.482C>T - p.T161M 23.84 0.375 0.4005 Thompson et al., 2013 DNA SEQ MLH1_01051
6 c.484A>G - p.R162G 25.9 0.999 0.92 Thompson et al., 2013 DNA SEQ MLH1_01052
6 c.484A>T - p.R162W 22.31 1 0.8917 Thompson et al., 2013 DNA SEQ MLH1_01053
6 c.485G>A - p.R162K 6.07 0.994 0.2949 Thompson et al., 2013 DNA SEQ MLH1_01054
6 c.485G>C - p.R162T 26.48 0.998 0.9234 Thompson et al., 2013 DNA SEQ MLH1_01055
6 c.485G>T - p.R162M 15.78 0.998 0.7882 Thompson et al., 2013 DNA SEQ MLH1_01056
6 c.486G>C - p.R162S 21.57 0.999 0.8837 Thompson et al., 2013 DNA SEQ MLH1_01057
6 c.486G>T - p.R162S 21.57 0.999 0.8837 Thompson et al., 2013 DNA SEQ MLH1_01058
6 c.487A>G - p.R163G 25.9 0.649 0.7215 Thompson et al., 2013 DNA SEQ MLH1_01059
6 c.488G>A - p.R163K 6.07 0.022 0.0066 Thompson et al., 2013 DNA SEQ MLH1_01060
6 c.488G>C - p.R163T 26.48 0.492 0.5826 Thompson et al., 2013 DNA SEQ MLH1_01061
6 c.488G>T - p.R163I 26.94 0.473 0.5724 Thompson et al., 2013 DNA SEQ MLH1_01062
6 c.489A>C - p.R163S 21.57 0.649 0.631 Thompson et al., 2013 DNA SEQ MLH1_01063
6 c.489A>T - p.R163S 21.57 0.649 0.631 Thompson et al., 2013 DNA SEQ MLH1_01064
6 c.490A>C - p.K164Q 14.08 0.685 0.4309 Thompson et al., 2013 DNA SEQ MLH1_01065
6 c.490A>G - p.K164E 23.7 0.894 0.8574 Thompson et al., 2013 DNA SEQ MLH1_01066
6 c.491A>C - p.K164T 27.99 0.962 0.9214 Thompson et al., 2013 DNA SEQ MLH1_01067
6 c.491A>G - p.K164R 7.31 0.763 0.1925 Thompson et al., 2013 DNA SEQ MLH1_01068
6 c.491A>T - p.K164I 25.96 0.987 0.9166 Thompson et al., 2013 DNA SEQ MLH1_01069
6 c.492A>C - p.K164N 14.55 0.685 0.4492 Thompson et al., 2013 DNA SEQ MLH1_01070
6 c.492A>T - p.K164N 14.55 0.685 0.4492 Thompson et al., 2013 DNA SEQ MLH1_01071
6 c.493G>A - p.A165T 33.24 0.99 0.9512 Thompson et al., 2013 DNA SEQ MLH1_01072
6 c.493G>C - p.A165P 38.15 0.997 0.9649 Thompson et al., 2013 DNA SEQ MLH1_01073
6 c.493G>T - p.A165S 23.39 0.852 0.8299 Thompson et al., 2013 DNA SEQ MLH1_01074
6 c.494C>A - p.A165D 43.15 0.997 0.9732 Thompson et al., 2013 DNA SEQ MLH1_01075
6 c.494C>G - p.A165G 22.29 0.995 0.8894 Thompson et al., 2013 DNA SEQ MLH1_01076
6 c.494C>T - p.A165V 35.49 0.994 0.9584 Thompson et al., 2013 DNA SEQ MLH1_01077
6 c.496T>A - p.L166I 8.64 0.931 0.4161 Thompson et al., 2013 DNA SEQ MLH1_01078
6 c.496T>G - p.L166V 14.52 0.75 0.5171 Thompson et al., 2013 DNA SEQ MLH1_01079
6 c.497T>C - p.L166S 11.8 0.918 0.5777 Thompson et al., 2013 DNA SEQ MLH1_01080
6 c.498A>C - p.L166F 6.29 0.25 0.0187 Thompson et al., 2013 DNA SEQ MLH1_01081
6 c.498A>T - p.L166F 6.29 0.25 0.0187 Thompson et al., 2013 DNA SEQ MLH1_01082
6 c.499A>C - p.K167Q 11.45 0.949 0.5931 Thompson et al., 2013 DNA SEQ MLH1_01083
6 c.499A>G - p.K167E 21.1 0.89 0.8195 Thompson et al., 2013 DNA SEQ MLH1_01084
6 c.500A>C - p.K167T 24.69 0.846 0.8432 Thompson et al., 2013 DNA SEQ MLH1_01085
6 c.500A>G - p.K167R 4.34 0.405 0.0156 Thompson et al., 2013 DNA SEQ MLH1_01086
6 c.500A>T - p.K167I 27.33 0.976 0.9218 Thompson et al., 2013 DNA SEQ MLH1_01087
6 c.501A>C - p.K167N 13.14 0.405 0.1641 Thompson et al., 2013 DNA SEQ MLH1_01088
6 c.501A>T - p.K167N 13.14 0.405 0.1641 Thompson et al., 2013 DNA SEQ MLH1_01089
6 c.502A>C - p.N168H 12.28 0.509 0.2077 Thompson et al., 2013 DNA SEQ MLH1_01090
6 c.502A>G - p.N168D 24.33 0.175 0.2298 Thompson et al., 2013 DNA SEQ MLH1_01091
6 c.502A>T - p.N168Y 8.03 0.44 0.0693 Thompson et al., 2013 DNA SEQ MLH1_01092
6 c.503A>C - p.N168T 3.35 0.027 0.0018 Thompson et al., 2013 DNA SEQ MLH1_01093
6 c.503A>G - p.N168S 1.26 0.004 0.0002 Thompson et al., 2013 DNA SEQ MLH1_01094
6 c.503A>T - p.N168I 10.97 0.487 0.156 Thompson et al., 2013 DNA SEQ MLH1_01095
6 c.504T>A - p.N168K 26.26 0.175 0.2619 Thompson et al., 2013 DNA SEQ MLH1_01096
6 c.504T>G - p.N168K 26.26 0.175 0.2619 Thompson et al., 2013 DNA SEQ MLH1_01097
6 c.505C>A - p.P169T 6.65 0.918 0.2712 Thompson et al., 2013 DNA SEQ MLH1_01098
6 c.505C>G - p.P169A 4.35 0.405 0.0157 Thompson et al., 2013 DNA SEQ MLH1_01099
6 c.505C>T - p.P169S 6.18 0.25 0.018 Thompson et al., 2013 DNA SEQ MLH1_01100
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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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