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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.1238C>A - p.T413K - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02701
12 c.1238C>G - p.T413R - 0.01 0.0026 Thompson et al., 2013 DNA SEQ MLH1_02702
12 c.1238C>T - p.T413I - 0.03 0.0031 Thompson et al., 2013 DNA SEQ MLH1_02703
12 c.1240G>A - p.E414K - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02704
12 c.1240G>C - p.E414Q - 0.03 0.0031 Thompson et al., 2013 DNA SEQ MLH1_02705
12 c.1241A>C - p.E414A - 0.017 0.0027 Thompson et al., 2013 DNA SEQ MLH1_02706
12 c.1241A>G - p.E414G - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02707
12 c.1241A>T - p.E414V - 0.017 0.0027 Thompson et al., 2013 DNA SEQ MLH1_02708
12 c.1242G>C - p.E414D - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02709
12 c.1242G>T - p.E414D - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02710
12 c.1243G>A - p.D415N - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02711
12 c.1243G>C - p.D415H - 0.002 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02712
12 c.1243G>T - p.D415Y - 0.053 0.0037 Thompson et al., 2013 DNA SEQ MLH1_02713
12 c.1244A>C - p.D415A - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02714
12 c.1244A>G - p.D415G - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02715
12 c.1244A>T - p.D415V - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02716
12 c.1245T>A - p.D415E - 0.012 0.0026 Thompson et al., 2013 DNA SEQ MLH1_02717
12 c.1245T>G - p.D415E - 0.012 0.0026 Thompson et al., 2013 DNA SEQ MLH1_02718
12 c.1246A>C - p.K416Q - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02719
12 c.1246A>G - p.K416E - 0.005 0.0025 Thompson et al., 2013 DNA SEQ MLH1_02720
12 c.1247A>C - p.K416T - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02721
12 c.1247A>G - p.K416R - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02722
12 c.1247A>T - p.K416M - 0.031 0.0031 Thompson et al., 2013 DNA SEQ MLH1_02723
12 c.1248G>C - p.K416N - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02724
12 c.1248G>T - p.K416N - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02725
12 c.1249A>C - p.T417P 5.43 0.053 0.0059 Thompson et al., 2013 DNA SEQ MLH1_02726
12 c.1249A>G - p.T417A 3.32 0.002 0.0016 Thompson et al., 2013 DNA SEQ MLH1_02727
12 c.1249A>T - p.T417S 2.34 0.031 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02728
12 c.1250C>A - p.T417K 4.24 0.031 0.0031 Thompson et al., 2013 DNA SEQ MLH1_02729
12 c.1250C>G - p.T417R 4.57 0.076 0.0044 Thompson et al., 2013 DNA SEQ MLH1_02730
12 c.1250C>T - p.T417I 3.69 0.012 0.0021 Thompson et al., 2013 DNA SEQ MLH1_02731
12 c.1252G>A - p.D418N 1.65 0.01 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02732
12 c.1252G>C - p.D418H 3.84 0.1 0.0033 Thompson et al., 2013 DNA SEQ MLH1_02733
12 c.1252G>T - p.D418Y 5.37 0.075 0.0063 Thompson et al., 2013 DNA SEQ MLH1_02734
12 c.1253A>C - p.D418A 2.72 0.001 0.001 Thompson et al., 2013 DNA SEQ MLH1_02735
12 c.1253A>G - p.D418G 2.02 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02736
12 c.1253A>T - p.D418V 6.39 0.01 0.0071 Thompson et al., 2013 DNA SEQ MLH1_02737
12 c.1254T>A - p.D418E 3.07 - 0.0013 Thompson et al., 2013 DNA SEQ MLH1_02738
12 c.1254T>G - p.D418E 3.07 - 0.0013 Thompson et al., 2013 DNA SEQ MLH1_02739
12 c.1255A>C - p.I419L - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02740
12 c.1255A>G - p.I419V - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02741
12 c.1255A>T - p.I419F - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02742
12 c.1256T>A - p.I419N - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02743
12 c.1256T>C - p.I419T - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02744
12 c.1256T>G - p.I419S - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02745
12 c.1257T>G - p.I419M - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02746
12 c.1258T>A - p.S420T 2.42 0.005 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02747
12 c.1258T>C - p.S420P 3.52 - 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02748
12 c.1258T>G - p.S420A 2.46 - 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02749
12 c.1259C>A - p.S420Y 3.35 0.012 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02750
12 c.1259C>G - p.S420C 1.88 0.055 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02751
12 c.1259C>T - p.S420F 2.75 - 0.001 Thompson et al., 2013 DNA SEQ MLH1_02752
12 c.1261A>C - p.S421R 3.52 0.007 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02753
12 c.1261A>G - p.S421G 2.79 - 0.001 Thompson et al., 2013 DNA SEQ MLH1_02754
12 c.1261A>T - p.S421C 6.07 0.088 0.0087 Thompson et al., 2013 DNA SEQ MLH1_02755
12 c.1262G>A - p.S421N 3.25 0.007 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02756
12 c.1262G>C - p.S421T 4.32 0.007 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02757
12 c.1262G>T - p.S421I 8.3 0.019 0.0132 Thompson et al., 2013 DNA SEQ MLH1_02758
12 c.1263T>A - p.S421R 3.52 0.007 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02759
12 c.1263T>G - p.S421R 3.52 0.007 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02760
12 c.1264G>A - p.G422S 1.01 - 0.0001 Thompson et al., 2013 DNA SEQ MLH1_02761
12 c.1264G>C - p.G422R 8.93 0.03 0.0163 Thompson et al., 2013 DNA SEQ MLH1_02762
12 c.1264G>T - p.G422C 3.98 0.091 0.0034 Thompson et al., 2013 DNA SEQ MLH1_02763
12 c.1265G>A - p.G422D 9.14 0.012 0.0159 Thompson et al., 2013 DNA SEQ MLH1_02764
12 c.1265G>C - p.G422A 4.34 0.002 0.0028 Thompson et al., 2013 DNA SEQ MLH1_02765
12 c.1265G>T - p.G422V 6.47 0.001 0.007 Thompson et al., 2013 DNA SEQ MLH1_02766
12 c.1267A>G - p.R423G 3.09 - 0.0013 Thompson et al., 2013 DNA SEQ MLH1_02767
12 c.1267A>T - p.R423W 3.48 0.254 0.005 Thompson et al., 2013 DNA SEQ MLH1_02768
12 c.1268G>A - p.R423K 3.23 - 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02769
12 c.1268G>C - p.R423T 2.95 - 0.0012 Thompson et al., 2013 DNA SEQ MLH1_02770
12 c.1268G>T - p.R423M 3.19 0.047 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02771
12 c.1269G>C - p.R423S 1.24 0.001 0.0002 Thompson et al., 2013 DNA SEQ MLH1_02772
12 c.1269G>T - p.R423S 1.24 0.001 0.0002 Thompson et al., 2013 DNA SEQ MLH1_02773
12 c.1270G>A - p.A424T 2.38 - 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02774
12 c.1270G>C - p.A424P 7.87 0.026 0.0121 Thompson et al., 2013 DNA SEQ MLH1_02775
12 c.1270G>T - p.A424S 2.15 - 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02776
12 c.1271C>A - p.A424D 4.36 0.001 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02777
12 c.1271C>G - p.A424G 3.41 0.01 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02778
12 c.1271C>T - p.A424V 1.92 - 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02779
12 c.1273A>G - p.R425G 1.81 - 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02780
12 c.1273A>T - p.R425W 2.96 0.084 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02781
12 c.1274G>A - p.R425K 1.71 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02782
12 c.1274G>C - p.R425T 2.71 - 0.001 Thompson et al., 2013 DNA SEQ MLH1_02783
12 c.1274G>T - p.R425M 1.76 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02784
12 c.1275G>C - p.R425S 1.66 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02785
12 c.1275G>T - p.R425S 1.66 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02786
12 c.1276C>A - p.Q426K 2.25 0.011 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02787
12 c.1276C>G - p.Q426E 2.31 0.002 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02788
12 c.1277A>C - p.Q426P 3.57 - 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02789
12 c.1277A>G - p.Q426R 2.81 0.002 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02790
12 c.1277A>T - p.Q426L 3.23 0.015 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02791
12 c.1278G>C - p.Q426H 1.66 0.093 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02792
12 c.1278G>T - p.Q426H 1.66 0.093 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02793
12 c.1279C>A - p.Q427K 2.47 - 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02794
12 c.1279C>G - p.Q427E 2.48 - 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02795
12 c.1280A>C - p.Q427P 3.66 - 0.0019 Thompson et al., 2013 DNA SEQ MLH1_02796
12 c.1280A>G - p.Q427R 3.01 0.001 0.0012 Thompson et al., 2013 DNA SEQ MLH1_02797
12 c.1280A>T - p.Q427L 3.03 - 0.0012 Thompson et al., 2013 DNA SEQ MLH1_02798
12 c.1281A>C - p.Q427H 1.63 0.047 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02799
12 c.1281A>T - p.Q427H 1.63 0.047 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02800
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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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