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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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MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
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10 c.874C>G - p.L292V 4.36 0.009 0.003 Thompson et al., 2013 DNA SEQ MLH1_02111
10 c.875T>A - p.L292Q 16.62 0.866 0.7046 Thompson et al., 2013 DNA SEQ MLH1_02112
10 c.875T>C - p.L292P 17.54 0.866 0.7294 Thompson et al., 2013 DNA SEQ MLH1_02113
10 c.875T>G - p.L292R 34.8 0.916 0.9405 Thompson et al., 2013 DNA SEQ MLH1_02114
10 c.877T>A - p.Y293N 17.86 0.999 0.8319 Thompson et al., 2013 DNA SEQ MLH1_02115
10 c.877T>C - p.Y293H 16.52 0.999 0.8057 Thompson et al., 2013 DNA SEQ MLH1_02116
10 c.877T>G - p.Y293D 35.81 0.999 0.96 Thompson et al., 2013 DNA SEQ MLH1_02117
10 c.878A>C - p.Y293S 18.59 0.999 0.8442 Thompson et al., 2013 DNA SEQ MLH1_02118
10 c.878A>G - p.Y293C 23.02 1 0.8984 Thompson et al., 2013 DNA SEQ MLH1_02119
10 c.878A>T - p.Y293F 22.82 0.999 0.8962 Thompson et al., 2013 DNA SEQ MLH1_02120
10 c.880C>A - p.L294I 5.1 0.548 0.0404 Thompson et al., 2013 DNA SEQ MLH1_02121
10 c.880C>G - p.L294V 10.31 0.682 0.2692 Thompson et al., 2013 DNA SEQ MLH1_02122
10 c.880C>T - p.L294F 4.76 0.26 0.0105 Thompson et al., 2013 DNA SEQ MLH1_02123
10 c.881T>A - p.L294H 15.34 0.963 0.7504 Thompson et al., 2013 DNA SEQ MLH1_02124
10 c.881T>C - p.L294P 19.3 0.963 0.835 Thompson et al., 2013 DNA SEQ MLH1_02125
10 c.881T>G - p.L294R 37.1 0.978 0.9597 Thompson et al., 2013 DNA SEQ MLH1_02126
10 c.883A>C - p.S295R 36.37 0.981 0.9584 Thompson et al., 2013 DNA SEQ MLH1_02127
10 c.883A>G - p.S295G 9.08 0.966 0.4807 Thompson et al., 2013 DNA SEQ MLH1_02128
10 c.883A>T - p.S295C 20.41 0.948 0.8435 Thompson et al., 2013 DNA SEQ MLH1_02129
10 c.884G>A - p.S295N 14.09 0.975 0.7229 Thompson et al., 2013 DNA SEQ MLH1_02130
10 c.884G>C - p.S295T 13.44 0.909 0.6388 Thompson et al., 2013 DNA SEQ MLH1_02131
10 c.884G>T - p.S295I 29.33 0.42 0.5643 Thompson et al., 2013 DNA SEQ MLH1_02132
11 c.885T>A - p.S295R 36.37 0.981 0.9584 Thompson et al., 2013 DNA SEQ MLH1_02133
11 c.885T>G - p.S295R 36.37 0.981 0.9584 Thompson et al., 2013 DNA SEQ MLH1_02134
11 c.886T>A - p.L296I 3.89 0.844 0.0744 Thompson et al., 2013 DNA SEQ MLH1_02135
11 c.886T>G - p.L296V 9.01 0.395 0.074 Thompson et al., 2013 DNA SEQ MLH1_02136
11 c.887T>C - p.L296S 17.99 0.981 0.8233 Thompson et al., 2013 DNA SEQ MLH1_02137
11 c.888A>C - p.L296F 7.45 0.981 0.3864 Thompson et al., 2013 DNA SEQ MLH1_02138
11 c.888A>T - p.L296F 7.45 0.981 0.3864 Thompson et al., 2013 DNA SEQ MLH1_02139
11 c.889G>A - p.E297K 6.52 0.052 0.0088 Thompson et al., 2013 DNA SEQ MLH1_02140
11 c.889G>C - p.E297Q 5.38 0.06 0.0059 Thompson et al., 2013 DNA SEQ MLH1_02141
11 c.890A>C - p.E297A 20.61 0.58 0.5348 Thompson et al., 2013 DNA SEQ MLH1_02142
11 c.890A>G - p.E297G 13.49 0.421 0.1824 Thompson et al., 2013 DNA SEQ MLH1_02143
11 c.890A>T - p.E297V 28.71 0.052 0.2046 Thompson et al., 2013 DNA SEQ MLH1_02144
11 c.891A>C - p.E297D 4.73 0.03 0.0039 Thompson et al., 2013 DNA SEQ MLH1_02145
11 c.891A>T - p.E297D 4.73 0.03 0.0039 Thompson et al., 2013 DNA SEQ MLH1_02146
11 c.892A>C - p.I298L 3.55 0.178 0.0038 Thompson et al., 2013 DNA SEQ MLH1_02147
11 c.892A>G - p.I298V 9.6 0.697 0.2504 Thompson et al., 2013 DNA SEQ MLH1_02148
11 c.892A>T - p.I298F 8.07 0.957 0.4054 Thompson et al., 2013 DNA SEQ MLH1_02149
11 c.893T>A - p.I298N 21.87 0.988 0.8821 Thompson et al., 2013 DNA SEQ MLH1_02150
11 c.893T>C - p.I298T 17.22 0.942 0.7813 Thompson et al., 2013 DNA SEQ MLH1_02151
11 c.893T>G - p.I298S 21.59 0.957 0.8642 Thompson et al., 2013 DNA SEQ MLH1_02152
11 c.894C>G - p.I298M 7.61 0.576 0.1053 Thompson et al., 2013 DNA SEQ MLH1_02153
11 c.895A>C - p.S299R 29 0.15 0.2855 Thompson et al., 2013 DNA SEQ MLH1_02154
11 c.895A>G - p.S299G 2.81 0.091 0.0016 Thompson et al., 2013 DNA SEQ MLH1_02155
11 c.895A>T - p.S299C 2.87 0.039 0.0013 Thompson et al., 2013 DNA SEQ MLH1_02156
11 c.896G>A - p.S299N 8.46 0.013 0.0134 Thompson et al., 2013 DNA SEQ MLH1_02157
11 c.896G>C - p.S299T 4.08 0.006 0.0025 Thompson et al., 2013 DNA SEQ MLH1_02158
11 c.896G>T - p.S299I 4.16 0.227 0.0067 Thompson et al., 2013 DNA SEQ MLH1_02159
11 c.897T>A - p.S299R 29 0.15 0.2855 Thompson et al., 2013 DNA SEQ MLH1_02160
11 c.897T>G - p.S299R 29 0.15 0.2855 Thompson et al., 2013 DNA SEQ MLH1_02161
11 c.898C>A - p.P300T 3.79 0.84 0.0693 Thompson et al., 2013 DNA SEQ MLH1_02162
11 c.898C>G - p.P300A 13.5 0.938 0.6691 Thompson et al., 2013 DNA SEQ MLH1_02163
11 c.898C>T - p.P300S 8.17 0.985 0.4413 Thompson et al., 2013 DNA SEQ MLH1_02164
11 c.899C>A - p.P300H 12.62 0.999 0.6923 Thompson et al., 2013 DNA SEQ MLH1_02165
11 c.899C>G - p.P300R 33.45 0.997 0.9532 Thompson et al., 2013 DNA SEQ MLH1_02166
11 c.899C>T - p.P300L 27.25 0.994 0.9267 Thompson et al., 2013 DNA SEQ MLH1_02167
11 c.901C>A - p.Q301K 4.08 0.019 0.0027 Thompson et al., 2013 DNA SEQ MLH1_02168
11 c.901C>G - p.Q301E 5.65 0.062 0.0067 Thompson et al., 2013 DNA SEQ MLH1_02169
11 c.902A>C - p.Q301P 11.15 0.452 0.1418 Thompson et al., 2013 DNA SEQ MLH1_02170
11 c.902A>G - p.Q301R 5.69 0.038 0.0061 Thompson et al., 2013 DNA SEQ MLH1_02171
11 c.902A>T - p.Q301L 7.5 0.147 0.018 Thompson et al., 2013 DNA SEQ MLH1_02172
11 c.903G>C - p.Q301H 3.13 0.033 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02173
11 c.903G>T - p.Q301H 3.13 0.033 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02174
11 c.904A>C - p.N302H 5.45 0.383 0.0237 Thompson et al., 2013 DNA SEQ MLH1_02175
11 c.904A>G - p.N302D 14.34 0.96 0.718 Thompson et al., 2013 DNA SEQ MLH1_02176
11 c.904A>T - p.N302Y 7.88 0.939 0.3743 Thompson et al., 2013 DNA SEQ MLH1_02177
11 c.905A>C - p.N302T 7.41 0.896 0.3022 Thompson et al., 2013 DNA SEQ MLH1_02178
11 c.905A>G - p.N302S 7.57 0.418 0.056 Thompson et al., 2013 DNA SEQ MLH1_02179
11 c.905A>T - p.N302I 26.68 0.922 0.8986 Thompson et al., 2013 DNA SEQ MLH1_02180
11 c.906T>A - p.N302K 10.33 0.896 0.4794 Thompson et al., 2013 DNA SEQ MLH1_02181
11 c.906T>G - p.N302K 10.33 0.896 0.4794 Thompson et al., 2013 DNA SEQ MLH1_02182
11 c.907G>A - p.V303M 13.43 0.95 0.6777 Thompson et al., 2013 DNA SEQ MLH1_02183
11 c.907G>C - p.V303L 7.77 0.078 0.0146 Thompson et al., 2013 DNA SEQ MLH1_02184
11 c.907G>T - p.V303L 7.77 0.078 0.0146 Thompson et al., 2013 DNA SEQ MLH1_02185
11 c.908T>A - p.V303E 31.78 0.935 0.9331 Thompson et al., 2013 DNA SEQ MLH1_02186
11 c.908T>C - p.V303A 12.1 0.852 0.5223 Thompson et al., 2013 DNA SEQ MLH1_02187
11 c.908T>G - p.V303G 13.85 0.961 0.7027 Thompson et al., 2013 DNA SEQ MLH1_02188
11 c.910G>A - p.D304N 13.97 1 0.74 Thompson et al., 2013 DNA SEQ MLH1_02189
11 c.910G>C - p.D304H 20.32 1 0.8695 Thompson et al., 2013 DNA SEQ MLH1_01620
11 c.910G>T - p.D304Y 21.06 1 0.8784 Thompson et al., 2013 DNA SEQ MLH1_01621
11 c.911A>C - p.D304A 29.51 1 0.9395 Thompson et al., 2013 DNA SEQ MLH1_01622
11 c.911A>G - p.D304G 20.85 1 0.876 Thompson et al., 2013 DNA SEQ MLH1_01623
11 c.911A>T - p.D304V 22.25 1 0.8911 Thompson et al., 2013 DNA SEQ MLH1_01624
11 c.912T>A - p.D304E 23.98 0.999 0.9062 Thompson et al., 2013 DNA SEQ MLH1_01625
11 c.912T>G - p.D304E 23.98 0.999 0.9062 Thompson et al., 2013 DNA SEQ MLH1_01626
11 c.913G>A - p.V305I 11.96 0.997 0.6638 Thompson et al., 2013 DNA SEQ MLH1_01627
11 c.913G>C - p.V305L 20.81 0.997 0.8741 Thompson et al., 2013 DNA SEQ MLH1_01628
11 c.913G>T - p.V305F 21.09 0.999 0.8783 Thompson et al., 2013 DNA SEQ MLH1_01629
11 c.914T>A - p.V305D 33.13 0.999 0.9527 Thompson et al., 2013 DNA SEQ MLH1_01630
11 c.914T>C - p.V305A 27.75 0.999 0.9308 Thompson et al., 2013 DNA SEQ MLH1_01631
11 c.914T>G - p.V305G 23.22 0.999 0.8998 Thompson et al., 2013 DNA SEQ MLH1_01632
11 c.916A>C - p.N306H 14.29 1 0.7497 Thompson et al., 2013 DNA SEQ MLH1_01633
11 c.916A>G - p.N306D 29.27 0.999 0.9382 Thompson et al., 2013 DNA SEQ MLH1_01634
11 c.916A>T - p.N306Y 20.2 1 0.8679 Thompson et al., 2013 DNA SEQ MLH1_01635
11 c.917A>C - p.N306T 16.73 1 0.8108 Thompson et al., 2013 DNA SEQ MLH1_01636
11 c.917A>G - p.N306S 13.4 0.999 0.7205 Thompson et al., 2013 DNA SEQ MLH1_01637
11 c.917A>T - p.N306I 22.05 1 0.8891 Thompson et al., 2013 DNA SEQ MLH1_01638
11 c.918T>A - p.N306K 25.31 1 0.9164 Thompson et al., 2013 DNA SEQ MLH1_01639
11 c.918T>G - p.N306K 25.31 1 0.9164 Thompson et al., 2013 DNA SEQ MLH1_01640
1901 - 2000
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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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