View unique variants   Search unique variants View all contents   Full database search Variant listing based on patient origin Database statistics   Switch gene
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

Unhide all columns | Hide Specific Columns | Hide all columns
About this overview [Show]

4981 entries
entries per page

Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
RNA change Hide RNA change column Descending
Ascending
Protein Hide Protein column Descending
Ascending
MAPP score Hide MAPP score column Descending
Ascending
Custom PP2.1 score Hide Custom PP2.1 score column Descending
Ascending
MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Template Hide Template column Descending
Ascending
Technique Hide Technique column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
3 c.275C>G - p.A92G 2.2 0.25 0.0018 Thompson et al., 2013 DNA SEQ MLH1_00931
3 c.275C>T - p.A92V 6.18 0.184 0.0136 Thompson et al., 2013 DNA SEQ MLH1_00932
3 c.277A>C - p.S93R 26.48 0.024 0.1597 Thompson et al., 2013 DNA SEQ MLH1_00933
3 c.277A>G - p.S93G 7.17 0.11 0.0139 Thompson et al., 2013 DNA SEQ MLH1_00934
3 c.277A>T - p.S93C 7.05 0.749 0.1714 Thompson et al., 2013 DNA SEQ MLH1_00935
3 c.278G>A - p.S93N 4.19 0.014 0.0028 Thompson et al., 2013 DNA SEQ MLH1_00936
3 c.278G>C - p.S93T 2.68 0.014 0.001 Thompson et al., 2013 DNA SEQ MLH1_00937
3 c.278G>T - p.S93I 13.99 0.37 0.1632 Thompson et al., 2013 DNA SEQ MLH1_00938
3 c.279T>A - p.S93R 26.48 0.024 0.1597 Thompson et al., 2013 DNA SEQ MLH1_00939
3 c.279T>G - p.S93R 26.48 0.024 0.1597 Thompson et al., 2013 DNA SEQ MLH1_00940
3 c.280A>C - p.I94L 10.44 0.848 0.4346 Thompson et al., 2013 DNA SEQ MLH1_00941
3 c.280A>G - p.I94V 10.65 0.907 0.5084 Thompson et al., 2013 DNA SEQ MLH1_00942
3 c.280A>T - p.I94F 10.65 0.99 0.5956 Thompson et al., 2013 DNA SEQ MLH1_00943
3 c.281T>A - p.I94N 17.95 0.997 0.8323 Thompson et al., 2013 DNA SEQ MLH1_00944
3 c.281T>C - p.I94T 19.6 0.99 0.8547 Thompson et al., 2013 DNA SEQ MLH1_00945
3 c.281T>G - p.I94S 20.83 0.99 0.871 Thompson et al., 2013 DNA SEQ MLH1_00946
3 c.282T>G - p.I94M 15.7 0.911 0.7174 Thompson et al., 2013 DNA SEQ MLH1_00947
3 c.283T>A - p.S95T 9.1 0.109 0.0236 Thompson et al., 2013 DNA SEQ MLH1_00948
3 c.283T>C - p.S95P 15.13 0.81 0.6029 Thompson et al., 2013 DNA SEQ MLH1_00949
3 c.283T>G - p.S95A 3.92 0.037 0.0026 Thompson et al., 2013 DNA SEQ MLH1_00950
3 c.284C>A - p.S95Y 19.63 0.779 0.7061 Thompson et al., 2013 DNA SEQ MLH1_00951
3 c.284C>G - p.S95C 8.71 0.885 0.3737 Thompson et al., 2013 DNA SEQ MLH1_00952
3 c.284C>T - p.S95F 17.53 0.779 0.6501 Thompson et al., 2013 DNA SEQ MLH1_00953
3 c.286A>C - p.T96P 43.72 1 0.9743 Thompson et al., 2013 DNA SEQ MLH1_00954
3 c.286A>G - p.T96A 37.99 1 0.965 Thompson et al., 2013 DNA SEQ MLH1_00955
3 c.286A>T - p.T96S 11.33 1 0.6388 Thompson et al., 2013 DNA SEQ MLH1_00956
3 c.287C>A - p.T96N 20.18 1 0.8677 Thompson et al., 2013 DNA SEQ MLH1_00957
3 c.287C>G - p.T96S 11.33 1 0.6388 Thompson et al., 2013 DNA SEQ MLH1_00958
3 c.287C>T - p.T96I 33.48 1 0.9539 Thompson et al., 2013 DNA SEQ MLH1_00959
3 c.289T>A - p.Y97N 21.07 0.997 0.8772 Thompson et al., 2013 DNA SEQ MLH1_00147
3 c.289T>C - p.Y97H 17.5 0.995 0.8229 Thompson et al., 2013 DNA SEQ MLH1_00148
3 c.289T>G - p.Y97D 27.98 0.997 0.9315 Thompson et al., 2013 DNA SEQ MLH1_00149
3 c.290A>C - p.Y97S 17.02 0.996 0.8141 Thompson et al., 2013 DNA SEQ MLH1_00150
3 c.290A>G - p.Y97C 14.49 0.997 0.7532 Thompson et al., 2013 DNA SEQ MLH1_00151
3 c.290A>T - p.Y97F 4.58 0.478 0.0239 Thompson et al., 2013 DNA SEQ MLH1_00152
3 c.292G>A - p.G98S 7.5 1 0.4095 Thompson et al., 2013 DNA SEQ MLH1_00153
3 c.292G>C - p.G98R 36.52 1 0.9618 Thompson et al., 2013 DNA SEQ MLH1_00154
3 c.292G>T - p.G98C 19.13 1 0.8531 Thompson et al., 2013 DNA SEQ MLH1_00155
3 c.293G>A - p.G98D 35.86 1 0.9603 Thompson et al., 2013 DNA SEQ MLH1_00156
3 c.293G>C - p.G98A 22.05 1 0.8891 Thompson et al., 2013 DNA SEQ MLH1_00157
3 c.293G>T - p.G98V 29.36 1 0.9389 Thompson et al., 2013 DNA SEQ MLH1_00158
3 c.295T>A - p.F99I 10.86 0.999 0.6154 Thompson et al., 2013 DNA SEQ MLH1_00159
3 c.295T>C - p.F99L 12.82 0.999 0.6998 Thompson et al., 2013 DNA SEQ MLH1_00160
3 c.295T>G - p.F99V 17.61 0.999 0.8274 Thompson et al., 2013 DNA SEQ MLH1_00161
3 c.296T>A - p.F99Y 16.28 0.999 0.8004 Thompson et al., 2013 DNA SEQ MLH1_00162
3 c.296T>C - p.F99S 19.43 1 0.8575 Thompson et al., 2013 DNA SEQ MLH1_00163
3 c.296T>G - p.F99C 17.91 1 0.8334 Thompson et al., 2013 DNA SEQ MLH1_00164
3 c.297T>A - p.F99L 12.82 0.999 0.6998 Thompson et al., 2013 DNA SEQ MLH1_00165
3 c.297T>G - p.F99L 12.82 0.999 0.6998 Thompson et al., 2013 DNA SEQ MLH1_00166
3 c.298C>G - p.R100G 25.9 1 0.9204 Thompson et al., 2013 DNA SEQ MLH1_00167
3 c.299G>A - p.R100Q 14.43 1 0.7539 Thompson et al., 2013 DNA SEQ MLH1_00168
3 c.299G>C - p.R100P 40.7 1 0.9699 Thompson et al., 2013 DNA SEQ MLH1_00169
3 c.299G>T - p.R100L 19.03 1 0.8516 Thompson et al., 2013 DNA SEQ MLH1_00170
3 c.301G>A - p.G101S 7.5 1 0.4095 Thompson et al., 2013 DNA SEQ MLH1_00171
3 c.301G>C - p.G101R 36.52 1 0.9618 Thompson et al., 2013 DNA SEQ MLH1_00172
3 c.301G>T - p.G101C 19.13 1 0.8531 Thompson et al., 2013 DNA SEQ MLH1_00173
3 c.302G>A - p.G101D 35.86 1 0.9603 Thompson et al., 2013 DNA SEQ MLH1_00174
3 c.302G>C - p.G101A 22.05 1 0.8891 Thompson et al., 2013 DNA SEQ MLH1_00175
3 c.302G>T - p.G101V 29.36 1 0.9389 Thompson et al., 2013 DNA SEQ MLH1_00176
3 c.304G>A - p.E102K 19.98 1 0.8651 Thompson et al., 2013 DNA SEQ MLH1_00177
3 c.304G>C - p.E102Q 13.2 1 0.7144 Thompson et al., 2013 DNA SEQ MLH1_00178
3 c.305A>C - p.E102A 24.45 1 0.9102 Thompson et al., 2013 DNA SEQ MLH1_00179
3 c.305A>G - p.E102G 28.23 1 0.9336 Thompson et al., 2013 DNA SEQ MLH1_00180
3 c.305A>T - p.E102V 31.34 1 0.9468 Thompson et al., 2013 DNA SEQ MLH1_00181
3 c.306G>C - p.E102D 13.31 1 0.7183 Thompson et al., 2013 DNA SEQ MLH1_00182
3 c.306G>T - p.E102D 13.31 1 0.7183 Thompson et al., 2013 DNA SEQ MLH1_00183
4 c.307G>A - p.A103T 33.24 1 0.9532 Thompson et al., 2013 DNA SEQ MLH1_00184
4 c.307G>C - p.A103P 38.15 1 0.9653 Thompson et al., 2013 DNA SEQ MLH1_00185
4 c.307G>T - p.A103S 23.39 1 0.9017 Thompson et al., 2013 DNA SEQ MLH1_00186
4 c.308C>A - p.A103D 43.15 1 0.9736 Thompson et al., 2013 DNA SEQ MLH1_00187
4 c.308C>G - p.A103G 22.29 1 0.8915 Thompson et al., 2013 DNA SEQ MLH1_00188
4 c.308C>T - p.A103V 35.49 1 0.9594 Thompson et al., 2013 DNA SEQ MLH1_00189
4 c.310T>A - p.L104M 10.65 1 0.6058 Thompson et al., 2013 DNA SEQ MLH1_00190
4 c.310T>G - p.L104V 25.8 1 0.9197 Thompson et al., 2013 DNA SEQ MLH1_00191
4 c.311T>C - p.L104S 22.76 1 0.896 Thompson et al., 2013 DNA SEQ MLH1_00192
4 c.311T>G - p.L104W 22.06 1 0.8892 Thompson et al., 2013 DNA SEQ MLH1_00193
4 c.312G>C - p.L104F 12.59 1 0.692 Thompson et al., 2013 DNA SEQ MLH1_00194
4 c.312G>T - p.L104F 12.59 1 0.692 Thompson et al., 2013 DNA SEQ MLH1_00195
4 c.313G>A - p.A105T 33.24 1 0.9532 Thompson et al., 2013 DNA SEQ MLH1_00196
4 c.313G>C - p.A105P 38.15 1 0.9653 Thompson et al., 2013 DNA SEQ MLH1_00197
4 c.313G>T - p.A105S 23.39 1 0.9017 Thompson et al., 2013 DNA SEQ MLH1_00198
4 c.314C>A - p.A105D 43.15 1 0.9736 Thompson et al., 2013 DNA SEQ MLH1_00199
4 c.314C>G - p.A105G 22.29 1 0.8915 Thompson et al., 2013 DNA SEQ MLH1_00200
4 c.314C>T - p.A105V 35.49 1 0.9594 Thompson et al., 2013 DNA SEQ MLH1_00201
4 c.316A>C - p.S106R 36.37 1 0.9615 Thompson et al., 2013 DNA SEQ MLH1_00202
4 c.316A>G - p.S106G 9.08 0.999 0.5159 Thompson et al., 2013 DNA SEQ MLH1_00203
4 c.316A>T - p.S106C 20.41 1 0.8706 Thompson et al., 2013 DNA SEQ MLH1_00204
4 c.317G>A - p.S106N 14.09 0.999 0.7429 Thompson et al., 2013 DNA SEQ MLH1_00205
4 c.317G>C - p.S106T 13.44 0.999 0.7219 Thompson et al., 2013 DNA SEQ MLH1_00206
4 c.317G>T - p.S106I 29.33 1 0.9387 Thompson et al., 2013 DNA SEQ MLH1_00207
4 c.318C>A - p.S106R 36.37 1 0.9615 Thompson et al., 2013 DNA SEQ MLH1_00208
4 c.318C>G - p.S106R 36.37 1 0.9615 Thompson et al., 2013 DNA SEQ MLH1_00209
4 c.319A>C - p.I107L 10.19 0.878 0.4526 Thompson et al., 2013 DNA SEQ MLH1_00210
4 c.319A>G - p.I107V 6.74 0.371 0.036 Thompson et al., 2013 DNA SEQ MLH1_00211
4 c.319A>T - p.I107L 10.19 0.878 0.4526 Thompson et al., 2013 DNA SEQ MLH1_00212
4 c.320T>A - p.I107K 28.19 0.984 0.929 Thompson et al., 2013 DNA SEQ MLH1_00213
4 c.320T>C - p.I107T 14.97 0.97 0.7455 Thompson et al., 2013 DNA SEQ MLH1_00214
4 c.320T>G - p.I107R 32.1 0.99 0.9474 Thompson et al., 2013 DNA SEQ MLH1_00215
4 c.321A>G - p.I107M 15.01 0.977 0.7523 Thompson et al., 2013 DNA SEQ MLH1_00216
4 c.322A>C - p.S108R 36.37 1 0.9615 Thompson et al., 2013 DNA SEQ MLH1_00217
601 - 700
[<<] [<-] ... 2 3 4 5 6 7 8 9 10 11 12 ... [->] [>>]

Save Click here to save this list in a tab-delimited text file.

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.

  Powered by LOVD v.2.0 Build 33
Enabled modules: mutalyzer
©2004-2011 Leiden University Medical Center