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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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13 c.1418A>T - p.H473L 5.39 - 0.0046 Thompson et al., 2013 DNA SEQ MLH1_03101
13 c.1419T>A - p.H473Q 5.12 0.01 0.0043 Thompson et al., 2013 DNA SEQ MLH1_03102
13 c.1419T>G - p.H473Q 5.12 0.01 0.0043 Thompson et al., 2013 DNA SEQ MLH1_03103
13 c.1420C>G - p.R474G 16.4 0.129 0.0911 Thompson et al., 2013 DNA SEQ MLH1_03104
13 c.1420C>T - p.R474W 13.31 0.589 0.3068 Thompson et al., 2013 DNA SEQ MLH1_03105
13 c.1421G>A - p.R474Q 6.32 0.134 0.0116 Thompson et al., 2013 DNA SEQ MLH1_03106
13 c.1421G>C - p.R474P 22.49 0.004 0.1075 Thompson et al., 2013 DNA SEQ MLH1_03107
13 c.1421G>T - p.R474L 19.66 0.179 0.1576 Thompson et al., 2013 DNA SEQ MLH1_03108
13 c.1423G>A - p.E475K 2.9 0.003 0.0011 Thompson et al., 2013 DNA SEQ MLH1_03109
13 c.1423G>C - p.E475Q 1.82 0.112 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03110
13 c.1424A>C - p.E475A 3.61 0.046 0.0023 Thompson et al., 2013 DNA SEQ MLH1_03111
13 c.1424A>G - p.E475G 3.79 0.046 0.0025 Thompson et al., 2013 DNA SEQ MLH1_03112
13 c.1424A>T - p.E475V 3.71 0.002 0.002 Thompson et al., 2013 DNA SEQ MLH1_03113
13 c.1425A>C - p.E475D 2.3 0.046 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03114
13 c.1425A>T - p.E475D 2.3 0.046 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03115
13 c.1426G>A - p.D476N 3.36 0.01 0.0016 Thompson et al., 2013 DNA SEQ MLH1_03116
13 c.1426G>C - p.D476H 4.76 0.064 0.0046 Thompson et al., 2013 DNA SEQ MLH1_03117
13 c.1426G>T - p.D476Y 5.57 0.047 0.0061 Thompson et al., 2013 DNA SEQ MLH1_03118
13 c.1427A>C - p.D476A 5.68 0.006 0.0053 Thompson et al., 2013 DNA SEQ MLH1_03119
13 c.1427A>G - p.D476G 6.55 - 0.0071 Thompson et al., 2013 DNA SEQ MLH1_03120
13 c.1427A>T - p.D476V 3.99 - 0.0023 Thompson et al., 2013 DNA SEQ MLH1_03121
13 c.1428T>A - p.D476E 1.72 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_03122
13 c.1428T>G - p.D476E 1.72 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_03123
13 c.1429T>A - p.S477T 3.53 0.001 0.0018 Thompson et al., 2013 DNA SEQ MLH1_03124
13 c.1429T>C - p.S477P 30.93 0.112 0.2823 Thompson et al., 2013 DNA SEQ MLH1_03125
13 c.1429T>G - p.S477A 24.38 0.011 0.1297 Thompson et al., 2013 DNA SEQ MLH1_03126
13 c.1430C>A - p.S477Y 10.13 0.188 0.0414 Thompson et al., 2013 DNA SEQ MLH1_03127
13 c.1430C>G - p.S477C 19.89 0.295 0.2395 Thompson et al., 2013 DNA SEQ MLH1_03128
13 c.1430C>T - p.S477F 22.68 0.188 0.2119 Thompson et al., 2013 DNA SEQ MLH1_03129
13 c.1432G>A - p.D478N 6.44 0.006 0.0071 Thompson et al., 2013 DNA SEQ MLH1_03130
13 c.1432G>C - p.D478H 8.38 0.155 0.0238 Thompson et al., 2013 DNA SEQ MLH1_03131
13 c.1432G>T - p.D478Y 7.14 0.234 0.0232 Thompson et al., 2013 DNA SEQ MLH1_03132
13 c.1433A>C - p.D478A 14.56 0.002 0.0426 Thompson et al., 2013 DNA SEQ MLH1_03133
13 c.1433A>G - p.D478G 8.56 0.027 0.0146 Thompson et al., 2013 DNA SEQ MLH1_03134
13 c.1433A>T - p.D478V 16.84 0.019 0.0624 Thompson et al., 2013 DNA SEQ MLH1_03135
13 c.1434T>A - p.D478E 6.38 0.002 0.0068 Thompson et al., 2013 DNA SEQ MLH1_03136
13 c.1434T>G - p.D478E 6.38 0.002 0.0068 Thompson et al., 2013 DNA SEQ MLH1_03137
13 c.1435G>A - p.V479M 9.27 0.011 0.0163 Thompson et al., 2013 DNA SEQ MLH1_03138
13 c.1435G>C - p.V479L 7.52 0.018 0.0105 Thompson et al., 2013 DNA SEQ MLH1_03139
13 c.1435G>T - p.V479L 7.52 0.018 0.0105 Thompson et al., 2013 DNA SEQ MLH1_03140
13 c.1436T>A - p.V479E 30.24 0.002 0.1896 Thompson et al., 2013 DNA SEQ MLH1_03141
13 c.1436T>C - p.V479A 9.96 0.026 0.0204 Thompson et al., 2013 DNA SEQ MLH1_03142
13 c.1436T>G - p.V479G 6.5 0.026 0.0078 Thompson et al., 2013 DNA SEQ MLH1_03143
13 c.1438G>A - p.E480K 9.25 0.046 0.0188 Thompson et al., 2013 DNA SEQ MLH1_03144
13 c.1438G>C - p.E480Q 5.16 0.011 0.0044 Thompson et al., 2013 DNA SEQ MLH1_03145
13 c.1439A>C - p.E480A 22.22 0.046 0.1229 Thompson et al., 2013 DNA SEQ MLH1_03146
13 c.1439A>G - p.E480G 22.18 0.046 0.1225 Thompson et al., 2013 DNA SEQ MLH1_03147
13 c.1439A>T - p.E480V 34.45 0.079 0.3039 Thompson et al., 2013 DNA SEQ MLH1_03148
13 c.1440A>C - p.E480D 8.96 0.003 0.0146 Thompson et al., 2013 DNA SEQ MLH1_03149
13 c.1440A>T - p.E480D 8.96 0.003 0.0146 Thompson et al., 2013 DNA SEQ MLH1_03150
13 c.1441A>C - p.M481L 2.15 0.002 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03151
13 c.1441A>G - p.M481V 5.15 0.017 0.0045 Thompson et al., 2013 DNA SEQ MLH1_03152
13 c.1441A>T - p.M481L 2.15 0.002 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03153
13 c.1442T>A - p.M481K 3.23 0.042 0.0017 Thompson et al., 2013 DNA SEQ MLH1_03154
13 c.1442T>C - p.M481T 3.43 0.002 0.0017 Thompson et al., 2013 DNA SEQ MLH1_03155
13 c.1442T>G - p.M481R 3.57 0.073 0.0025 Thompson et al., 2013 DNA SEQ MLH1_03156
13 c.1443G>A - p.M481I 4.03 0.006 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03157
13 c.1443G>C - p.M481I 4.03 0.006 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03158
13 c.1443G>T - p.M481I 4.03 0.006 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03159
13 c.1444G>A - p.V482M 2.36 0.002 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03160
13 c.1444G>C - p.V482L 2.26 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03161
13 c.1444G>T - p.V482L 2.26 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03162
13 c.1445T>A - p.V482E 5.14 0.001 0.0042 Thompson et al., 2013 DNA SEQ MLH1_03163
13 c.1445T>C - p.V482A 3.53 0.002 0.0018 Thompson et al., 2013 DNA SEQ MLH1_03164
13 c.1445T>G - p.V482G 4.61 0.016 0.0035 Thompson et al., 2013 DNA SEQ MLH1_03165
13 c.1447G>A - p.E483K 4.2 0.005 0.0027 Thompson et al., 2013 DNA SEQ MLH1_03166
13 c.1447G>C - p.E483Q 2.76 0.018 0.0011 Thompson et al., 2013 DNA SEQ MLH1_03167
13 c.1448A>C - p.E483A 7.31 0.046 0.0111 Thompson et al., 2013 DNA SEQ MLH1_03168
13 c.1448A>G - p.E483G 5.61 0.046 0.0061 Thompson et al., 2013 DNA SEQ MLH1_03169
13 c.1448A>T - p.E483V 10.42 0.032 0.0231 Thompson et al., 2013 DNA SEQ MLH1_03170
13 c.1449A>C - p.E483D 1.65 0.003 0.0003 Thompson et al., 2013 DNA SEQ MLH1_03171
13 c.1449A>T - p.E483D 1.65 0.003 0.0003 Thompson et al., 2013 DNA SEQ MLH1_03172
13 c.1450G>A - p.D484N 9.52 0.001 0.0166 Thompson et al., 2013 DNA SEQ MLH1_03173
13 c.1450G>C - p.D484H 12.32 0.105 0.0451 Thompson et al., 2013 DNA SEQ MLH1_03174
13 c.1450G>T - p.D484Y 9.99 0.079 0.0256 Thompson et al., 2013 DNA SEQ MLH1_03175
13 c.1451A>C - p.D484A 20.14 0.018 0.0905 Thompson et al., 2013 DNA SEQ MLH1_03176
13 c.1451A>G - p.D484G 13.78 - 0.0375 Thompson et al., 2013 DNA SEQ MLH1_03177
13 c.1451A>T - p.D484V 25.66 0.001 0.1383 Thompson et al., 2013 DNA SEQ MLH1_03178
13 c.1452T>A - p.D484E 2.04 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03179
13 c.1452T>G - p.D484E 2.04 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03180
13 c.1453G>A - p.D485N 1.71 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_03181
13 c.1453G>C - p.D485H 2.7 0.001 0.001 Thompson et al., 2013 DNA SEQ MLH1_03182
13 c.1453G>T - p.D485Y 3.32 0.026 0.0017 Thompson et al., 2013 DNA SEQ MLH1_03183
13 c.1454A>C - p.D485A 3.2 - 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03184
13 c.1454A>G - p.D485G 2.73 - 0.001 Thompson et al., 2013 DNA SEQ MLH1_03185
13 c.1454A>T - p.D485V 3.41 0.007 0.0017 Thompson et al., 2013 DNA SEQ MLH1_03186
13 c.1455T>A - p.D485E 2.02 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03187
13 c.1455T>G - p.D485E 2.02 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03188
13 c.1456T>A - p.S486T 2.53 0.001 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03189
13 c.1456T>C - p.S486P 4.7 0.001 0.0034 Thompson et al., 2013 DNA SEQ MLH1_03190
13 c.1456T>G - p.S486A 3.62 0.01 0.002 Thompson et al., 2013 DNA SEQ MLH1_03191
13 c.1457C>A - p.S486Y 4.31 0.047 0.0034 Thompson et al., 2013 DNA SEQ MLH1_03192
13 c.1457C>G - p.S486C 2.7 0.082 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03193
13 c.1457C>T - p.S486F 4.7 0.047 0.0041 Thompson et al., 2013 DNA SEQ MLH1_03194
13 c.1459C>G - p.R487G 3.05 0.001 0.0013 Thompson et al., 2013 DNA SEQ MLH1_03195
13 c.1460G>A - p.R487Q 2.03 0.005 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03196
13 c.1460G>C - p.R487P 8.19 0.051 0.0146 Thompson et al., 2013 DNA SEQ MLH1_03197
13 c.1460G>T - p.R487L 3.03 0.029 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03198
13 c.1462A>C - p.K488Q 1.71 0.166 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03199
13 c.1462A>G - p.K488E 2.09 0.003 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03200
3101 - 3200
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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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