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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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12 c.1327A>G - p.K443E 5.39 - 0.0046 Thompson et al., 2013 DNA SEQ MLH1_02901
12 c.1328A>C - p.K443T 2.77 - 0.001 Thompson et al., 2013 DNA SEQ MLH1_02902
12 c.1328A>G - p.K443R 3.19 - 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02903
12 c.1328A>T - p.K443I 1.39 0.001 0.0002 Thompson et al., 2013 DNA SEQ MLH1_02904
12 c.1329A>C - p.K443N 2.56 0.001 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02905
12 c.1329A>T - p.K443N 2.56 0.001 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02906
12 c.1330A>C - p.N444H 2.3 0.001 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02907
12 c.1330A>G - p.N444D 2.58 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02908
12 c.1330A>T - p.N444Y 3.12 0.018 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02909
12 c.1331A>C - p.N444T 3.05 - 0.0013 Thompson et al., 2013 DNA SEQ MLH1_02910
12 c.1331A>G - p.N444S 3.24 - 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02911
12 c.1331A>T - p.N444I 2.43 0.01 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02912
12 c.1332T>A - p.N444K 3.18 - 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02913
12 c.1332T>G - p.N444K 3.18 - 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02914
12 c.1333C>A - p.Q445K 3.76 0.006 0.0021 Thompson et al., 2013 DNA SEQ MLH1_02915
12 c.1333C>G - p.Q445E 1.82 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02916
12 c.1334A>C - p.Q445P 7.61 0.026 0.0112 Thompson et al., 2013 DNA SEQ MLH1_02917
12 c.1334A>G - p.Q445R 4.71 0.001 0.0034 Thompson et al., 2013 DNA SEQ MLH1_02918
12 c.1334A>T - p.Q445L 4.6 0.009 0.0033 Thompson et al., 2013 DNA SEQ MLH1_02919
12 c.1335G>C - p.Q445H 5.01 0.066 0.0052 Thompson et al., 2013 DNA SEQ MLH1_02920
12 c.1335G>T - p.Q445H 5.01 0.066 0.0052 Thompson et al., 2013 DNA SEQ MLH1_02921
12 c.1336A>C - p.S446R 23.42 0.026 0.1267 Thompson et al., 2013 DNA SEQ MLH1_02922
12 c.1336A>G - p.S446G 1.77 - 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02923
12 c.1336A>T - p.S446C 2.43 0.082 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02924
12 c.1337G>A - p.S446N 2.48 0.001 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02925
12 c.1337G>C - p.S446T 2.22 - 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02926
12 c.1337G>T - p.S446I 3.43 0.012 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02927
12 c.1338C>A - p.S446R 23.42 0.026 0.1267 Thompson et al., 2013 DNA SEQ MLH1_02928
12 c.1338C>G - p.S446R 23.42 0.026 0.1267 Thompson et al., 2013 DNA SEQ MLH1_02929
12 c.1339T>A - p.L447M - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02930
12 c.1339T>G - p.L447V - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02931
12 c.1340T>C - p.L447S - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02932
12 c.1340T>G - p.L447W - 0.082 0.0048 Thompson et al., 2013 DNA SEQ MLH1_02933
12 c.1341G>C - p.L447F - 0.026 0.003 Thompson et al., 2013 DNA SEQ MLH1_02934
12 c.1341G>T - p.L447F - 0.026 0.003 Thompson et al., 2013 DNA SEQ MLH1_02935
12 c.1342G>A - p.E448K - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02936
12 c.1342G>C - p.E448Q - 0.007 0.0025 Thompson et al., 2013 DNA SEQ MLH1_02937
12 c.1343A>C - p.E448A - 0.018 0.0028 Thompson et al., 2013 DNA SEQ MLH1_02938
12 c.1343A>G - p.E448G - 0.018 0.0028 Thompson et al., 2013 DNA SEQ MLH1_02939
12 c.1343A>T - p.E448V - 0.021 0.0028 Thompson et al., 2013 DNA SEQ MLH1_02940
12 c.1344G>C - p.E448D - 0.002 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02941
12 c.1344G>T - p.E448D - 0.002 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02942
12 c.1345G>A - p.G449R 2.37 - 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02943
12 c.1345G>C - p.G449R 2.37 - 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02944
12 c.1345G>T - p.G449W 3.56 0.129 0.0031 Thompson et al., 2013 DNA SEQ MLH1_02945
12 c.1346G>A - p.G449E 3.52 - 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02946
12 c.1346G>C - p.G449A 3.69 0.006 0.002 Thompson et al., 2013 DNA SEQ MLH1_02947
12 c.1346G>T - p.G449V 2.73 - 0.001 Thompson et al., 2013 DNA SEQ MLH1_02948
12 c.1348G>A - p.D450N 1.34 0.001 0.0002 Thompson et al., 2013 DNA SEQ MLH1_02949
12 c.1348G>C - p.D450H 3.4 0.101 0.0025 Thompson et al., 2013 DNA SEQ MLH1_02950
12 c.1348G>T - p.D450Y 5.15 0.047 0.0051 Thompson et al., 2013 DNA SEQ MLH1_02951
12 c.1349A>C - p.D450A 3.34 0.001 0.0016 Thompson et al., 2013 DNA SEQ MLH1_02952
12 c.1349A>G - p.D450G 4.19 0.001 0.0026 Thompson et al., 2013 DNA SEQ MLH1_02953
12 c.1349A>T - p.D450V 6.01 - 0.0059 Thompson et al., 2013 DNA SEQ MLH1_02954
12 c.1350T>A - p.D450E 2.63 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02955
12 c.1350T>G - p.D450E 2.63 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02956
12 c.1351A>C - p.T451P 11.73 - 0.0263 Thompson et al., 2013 DNA SEQ MLH1_02957
12 c.1351A>G - p.T451A 7.7 - 0.0103 Thompson et al., 2013 DNA SEQ MLH1_02958
12 c.1351A>T - p.T451S 1.81 - 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02959
12 c.1352C>A - p.T451K 23.74 - 0.1181 Thompson et al., 2013 DNA SEQ MLH1_02960
12 c.1352C>G - p.T451R 23.69 0.001 0.118 Thompson et al., 2013 DNA SEQ MLH1_02961
12 c.1352C>T - p.T451I 8 0.004 0.0114 Thompson et al., 2013 DNA SEQ MLH1_02962
12 c.1354A>C - p.T452P 8.11 0.026 0.0129 Thompson et al., 2013 DNA SEQ MLH1_02963
12 c.1354A>G - p.T452A 5.35 0.001 0.0045 Thompson et al., 2013 DNA SEQ MLH1_02964
12 c.1354A>T - p.T452S 1.58 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02965
12 c.1355C>A - p.T452K 4.52 0.01 0.0032 Thompson et al., 2013 DNA SEQ MLH1_02966
12 c.1355C>G - p.T452R 5.21 0.018 0.0046 Thompson et al., 2013 DNA SEQ MLH1_02967
12 c.1355C>T - p.T452I 2.87 0.002 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02968
12 c.1357A>C - p.K453Q 1.89 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02969
12 c.1357A>G - p.K453E 2.62 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02970
12 c.1358A>C - p.K453T 2.47 - 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02971
12 c.1358A>G - p.K453R 3.16 - 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02972
12 c.1358A>T - p.K453M 2.58 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02973
12 c.1359G>C - p.K453N 1.59 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02974
12 c.1359G>T - p.K453N 1.59 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02975
12 c.1360G>A - p.G454R 2.35 0.001 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02976
12 c.1360G>C - p.G454R 2.35 0.001 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02977
12 c.1360G>T - p.G454W 3.51 0.201 0.0041 Thompson et al., 2013 DNA SEQ MLH1_02978
12 c.1361G>A - p.G454E 2.35 - 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02979
12 c.1361G>C - p.G454A 2.88 0.002 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02980
12 c.1361G>T - p.G454V 2.17 0.007 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02981
12 c.1363A>C - p.T455P 1.83 0.026 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02982
12 c.1363A>G - p.T455A 3.95 0.001 0.0023 Thompson et al., 2013 DNA SEQ MLH1_02983
12 c.1363A>T - p.T455S 1.75 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02984
12 c.1364C>A - p.T455N 2.24 0.002 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02985
12 c.1364C>G - p.T455S 1.75 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02986
12 c.1364C>T - p.T455I 6.27 0.004 0.0066 Thompson et al., 2013 DNA SEQ MLH1_02987
12 c.1366T>A - p.S456T 2.89 0.001 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02988
12 c.1366T>C - p.S456P 3.77 - 0.0021 Thompson et al., 2013 DNA SEQ MLH1_02989
12 c.1366T>G - p.S456A 2.69 - 0.001 Thompson et al., 2013 DNA SEQ MLH1_02990
12 c.1367C>T - p.S456L 2.14 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02991
12 c.1369G>A - p.E457K 1.81 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02992
12 c.1369G>C - p.E457Q 1.58 0.002 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02993
12 c.1370A>C - p.E457A 2.72 0.018 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02994
12 c.1370A>G - p.E457G 2.8 0.018 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02995
12 c.1370A>T - p.E457V 3.42 0.001 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02996
12 c.1371A>C - p.E457D 2.13 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02997
12 c.1371A>T - p.E457D 2.13 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02998
12 c.1372A>C - p.M458L 4.18 - 0.0026 Thompson et al., 2013 DNA SEQ MLH1_02999
12 c.1372A>G - p.M458V 4.72 - 0.0034 Thompson et al., 2013 DNA SEQ MLH1_03000
2901 - 3000
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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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