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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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12 c.1282G>A - p.D428N 5.01 0.243 0.0109 Thompson et al., 2013 DNA SEQ MLH1_02801
12 c.1282G>C - p.D428H 11.08 0.516 0.1762 Thompson et al., 2013 DNA SEQ MLH1_02802
12 c.1282G>T - p.D428Y 17.99 0.573 0.4504 Thompson et al., 2013 DNA SEQ MLH1_02803
12 c.1283A>C - p.D428A 22.89 0.11 0.1646 Thompson et al., 2013 DNA SEQ MLH1_02804
12 c.1283A>G - p.D428G 17.53 0.179 0.126 Thompson et al., 2013 DNA SEQ MLH1_02805
12 c.1283A>T - p.D428V 27.48 0.371 0.4755 Thompson et al., 2013 DNA SEQ MLH1_02806
12 c.1284T>A - p.D428E 22.04 0.008 0.1048 Thompson et al., 2013 DNA SEQ MLH1_02807
12 c.1284T>G - p.D428E 22.04 0.008 0.1048 Thompson et al., 2013 DNA SEQ MLH1_02808
12 c.1285G>A - p.E429K 3.82 0.001 0.0021 Thompson et al., 2013 DNA SEQ MLH1_02809
12 c.1285G>C - p.E429Q 2.08 0.002 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02810
12 c.1286A>C - p.E429A 3.24 0.001 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02811
12 c.1286A>G - p.E429G 3.17 0.015 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02812
12 c.1286A>T - p.E429V 3.3 - 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02813
12 c.1287G>C - p.E429D 2.8 0.015 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02814
12 c.1287G>T - p.E429D 2.8 0.015 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02815
12 c.1288G>A - p.E430K 2.5 0.005 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02816
12 c.1288G>C - p.E430Q 1.72 0.112 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02817
12 c.1289A>C - p.E430A 2.54 0.003 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02818
12 c.1289A>G - p.E430G 1.95 0.003 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02819
12 c.1289A>T - p.E430V 3.78 0.046 0.0025 Thompson et al., 2013 DNA SEQ MLH1_02820
12 c.1290G>C - p.E430D 2.48 0.003 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02821
12 c.1290G>T - p.E430D 2.48 0.003 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02822
12 c.1291A>C - p.M431L 2.32 0.004 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02823
12 c.1291A>G - p.M431V 2.54 - 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02824
12 c.1291A>T - p.M431L 2.32 0.004 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02825
12 c.1292T>A - p.M431K 4.48 0.015 0.0032 Thompson et al., 2013 DNA SEQ MLH1_02826
12 c.1292T>C - p.M431T 3.02 0.011 0.0013 Thompson et al., 2013 DNA SEQ MLH1_02827
12 c.1292T>G - p.M431R 5.25 0.001 0.0044 Thompson et al., 2013 DNA SEQ MLH1_02828
12 c.1293G>A - p.M431I 1.76 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02829
12 c.1293G>C - p.M431I 1.76 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02830
12 c.1293G>T - p.M431I 1.76 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02831
12 c.1294C>A - p.L432I 1.74 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02832
12 c.1294C>G - p.L432V 2.04 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02833
12 c.1294C>T - p.L432F 1.99 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02834
12 c.1295T>A - p.L432H 2.63 0.064 0.0012 Thompson et al., 2013 DNA SEQ MLH1_02835
12 c.1295T>C - p.L432P 2.6 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02836
12 c.1295T>G - p.L432R 4.66 0.01 0.0035 Thompson et al., 2013 DNA SEQ MLH1_02837
12 c.1297G>A - p.E433K 4.21 0.026 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02838
12 c.1297G>C - p.E433Q 2.6 0.105 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02839
12 c.1298A>C - p.E433A 5.44 0.001 0.0047 Thompson et al., 2013 DNA SEQ MLH1_02840
12 c.1298A>G - p.E433G 4.48 0.026 0.0034 Thompson et al., 2013 DNA SEQ MLH1_02841
12 c.1298A>T - p.E433V 7.3 0.046 0.0111 Thompson et al., 2013 DNA SEQ MLH1_02842
12 c.1299A>C - p.E433D 1.86 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02843
12 c.1299A>T - p.E433D 1.86 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02844
12 c.1300C>A - p.L434I 1.63 0.004 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02845
12 c.1300C>G - p.L434V 1.65 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02846
12 c.1300C>T - p.L434F 2.53 0.003 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02847
12 c.1301T>A - p.L434H 2.49 0.156 0.0016 Thompson et al., 2013 DNA SEQ MLH1_02848
12 c.1301T>C - p.L434P 7.9 0.001 0.0109 Thompson et al., 2013 DNA SEQ MLH1_02849
12 c.1301T>G - p.L434R 3.61 0.108 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02850
12 c.1303C>A - p.P435T 3.38 0.011 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02851
12 c.1303C>G - p.P435A 2.57 0.004 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02852
12 c.1303C>T - p.P435S 2.8 0.001 0.001 Thompson et al., 2013 DNA SEQ MLH1_02853
12 c.1304C>A - p.P435Q 6.28 0.068 0.0087 Thompson et al., 2013 DNA SEQ MLH1_02854
12 c.1304C>G - p.P435R 28.19 0.068 0.209 Thompson et al., 2013 DNA SEQ MLH1_02855
12 c.1304C>T - p.P435L 3.43 0.002 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02856
12 c.1306G>A - p.A436T 4.69 0.012 0.0035 Thompson et al., 2013 DNA SEQ MLH1_02857
12 c.1306G>C - p.A436P 7.3 0.031 0.0104 Thompson et al., 2013 DNA SEQ MLH1_02858
12 c.1306G>T - p.A436S 2.21 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02859
12 c.1307C>A - p.A436D 3.45 0.001 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02860
12 c.1307C>G - p.A436G 2.74 0.018 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02861
12 c.1307C>T - p.A436V 7.24 0.012 0.0094 Thompson et al., 2013 DNA SEQ MLH1_02862
12 c.1309C>A - p.P437T 2.73 0.102 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02863
12 c.1309C>G - p.P437A 3.22 0.005 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02864
12 c.1309C>T - p.P437S 3.29 0.102 0.0023 Thompson et al., 2013 DNA SEQ MLH1_02865
12 c.1310C>A - p.P437H 2.58 0.274 0.0028 Thompson et al., 2013 DNA SEQ MLH1_02866
12 c.1310C>G - p.P437R 5.71 0.173 0.0109 Thompson et al., 2013 DNA SEQ MLH1_02867
12 c.1310C>T - p.P437L 2.85 0.005 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02868
12 c.1312G>A - p.A438T 4.65 0.001 0.0033 Thompson et al., 2013 DNA SEQ MLH1_02869
12 c.1312G>C - p.A438P 9.85 0.018 0.0193 Thompson et al., 2013 DNA SEQ MLH1_02870
12 c.1312G>T - p.A438S 3.72 - 0.002 Thompson et al., 2013 DNA SEQ MLH1_02871
12 c.1313C>A - p.A438D 11.1 - 0.0233 Thompson et al., 2013 DNA SEQ MLH1_02872
12 c.1313C>G - p.A438G 4.59 0.01 0.0033 Thompson et al., 2013 DNA SEQ MLH1_02873
12 c.1313C>T - p.A438V 3.6 - 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02874
12 c.1315G>A - p.E439K 4.68 0.007 0.0034 Thompson et al., 2013 DNA SEQ MLH1_02875
12 c.1315G>C - p.E439Q 2.85 0.001 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02876
12 c.1316A>C - p.E439A 5.18 - 0.0042 Thompson et al., 2013 DNA SEQ MLH1_02877
12 c.1316A>G - p.E439G 5.4 0.01 0.0048 Thompson et al., 2013 DNA SEQ MLH1_02878
12 c.1316A>T - p.E439V 6.41 0.007 0.007 Thompson et al., 2013 DNA SEQ MLH1_02879
12 c.1317A>C - p.E439D 1.83 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02880
12 c.1317A>T - p.E439D 1.83 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02881
12 c.1318G>A - p.V440M 2.39 0.002 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02882
12 c.1318G>C - p.V440L 2.31 0.001 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02883
12 c.1318G>T - p.V440L 2.31 0.001 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02884
12 c.1319T>A - p.V440E 4.54 0.001 0.0031 Thompson et al., 2013 DNA SEQ MLH1_02885
12 c.1319T>C - p.V440A 2.62 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02886
12 c.1319T>G - p.V440G 2 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02887
12 c.1321G>A - p.A441T 7.79 0.001 0.0106 Thompson et al., 2013 DNA SEQ MLH1_02888
12 c.1321G>C - p.A441P 15.9 0.027 0.057 Thompson et al., 2013 DNA SEQ MLH1_02889
12 c.1321G>T - p.A441S 6.27 0.001 0.0065 Thompson et al., 2013 DNA SEQ MLH1_02890
12 c.1322C>A - p.A441D 7.12 0.001 0.0087 Thompson et al., 2013 DNA SEQ MLH1_02891
12 c.1322C>G - p.A441G 7.95 0.015 0.0118 Thompson et al., 2013 DNA SEQ MLH1_02892
12 c.1322C>T - p.A441V 8.11 0.001 0.0116 Thompson et al., 2013 DNA SEQ MLH1_02893
12 c.1324G>A - p.A442T 2.76 0.001 0.001 Thompson et al., 2013 DNA SEQ MLH1_02894
12 c.1324G>C - p.A442P 3.91 0.001 0.0022 Thompson et al., 2013 DNA SEQ MLH1_02895
12 c.1324G>T - p.A442S 3.52 0.001 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02896
12 c.1325C>A - p.A442D 1.59 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02897
12 c.1325C>G - p.A442G 6.04 - 0.006 Thompson et al., 2013 DNA SEQ MLH1_02898
12 c.1325C>T - p.A442V 4.86 - 0.0036 Thompson et al., 2013 DNA SEQ MLH1_02899
12 c.1327A>C - p.K443Q 2.74 0.002 0.001 Thompson et al., 2013 DNA SEQ MLH1_02900
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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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