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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.1372A>T - p.M458L 4.18 - 0.0026 Thompson et al., 2013 DNA SEQ MLH1_03001
12 c.1373T>A - p.M458K 2.38 - 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03002
12 c.1373T>C - p.M458T 2.39 - 0.0007 Thompson et al., 2013 DNA SEQ MLH1_03003
12 c.1373T>G - p.M458R 3.22 - 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03004
12 c.1374G>A - p.M458I 4.6 - 0.0032 Thompson et al., 2013 DNA SEQ MLH1_03005
12 c.1374G>C - p.M458I 4.6 - 0.0032 Thompson et al., 2013 DNA SEQ MLH1_03006
12 c.1374G>T - p.M458I 4.6 - 0.0032 Thompson et al., 2013 DNA SEQ MLH1_03007
12 c.1375T>A - p.S459T 2.14 0.004 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03008
12 c.1375T>C - p.S459P 3.91 - 0.0022 Thompson et al., 2013 DNA SEQ MLH1_03009
12 c.1375T>G - p.S459A 4.3 - 0.0028 Thompson et al., 2013 DNA SEQ MLH1_03010
12 c.1376C>T - p.S459L 6.27 0.007 0.0067 Thompson et al., 2013 DNA SEQ MLH1_03011
12 c.1378G>A - p.E460K 2.14 0.015 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03012
12 c.1378G>C - p.E460Q 1.89 0.002 0.0004 Thompson et al., 2013 DNA SEQ MLH1_03013
12 c.1379A>C - p.E460A 5.56 0.001 0.005 Thompson et al., 2013 DNA SEQ MLH1_03014
12 c.1379A>G - p.E460G 3.66 - 0.0019 Thompson et al., 2013 DNA SEQ MLH1_03015
12 c.1379A>T - p.E460V 7.55 - 0.0098 Thompson et al., 2013 DNA SEQ MLH1_03016
12 c.1380G>C - p.E460D 2.2 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03017
12 c.1380G>T - p.E460D 2.2 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03018
12 c.1381A>C - p.K461Q - 0.002 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03019
12 c.1381A>G - p.K461E - 0.015 0.0027 Thompson et al., 2013 DNA SEQ MLH1_03020
12 c.1382A>C - p.K461T - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03021
12 c.1382A>G - p.K461R - 0.002 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03022
12 c.1382A>T - p.K461M - 0.07 0.0043 Thompson et al., 2013 DNA SEQ MLH1_03023
12 c.1383G>C - p.K461N - 0.015 0.0027 Thompson et al., 2013 DNA SEQ MLH1_03024
12 c.1383G>T - p.K461N - 0.015 0.0027 Thompson et al., 2013 DNA SEQ MLH1_03025
12 c.1384A>G - p.R462G 2.66 0.02 0.001 Thompson et al., 2013 DNA SEQ MLH1_03026
12 c.1385G>A - p.R462K 2.48 - 0.0008 Thompson et al., 2013 DNA SEQ MLH1_03027
12 c.1385G>C - p.R462T 3.99 - 0.0023 Thompson et al., 2013 DNA SEQ MLH1_03028
12 c.1385G>T - p.R462I 5.53 0.007 0.005 Thompson et al., 2013 DNA SEQ MLH1_03029
12 c.1386A>C - p.R462S 1.47 0.013 0.0003 Thompson et al., 2013 DNA SEQ MLH1_03030
12 c.1386A>T - p.R462S 1.47 0.013 0.0003 Thompson et al., 2013 DNA SEQ MLH1_03031
12 c.1387G>A - p.G463R - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03032
12 c.1387G>C - p.G463R - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03033
12 c.1388G>A - p.G463E - 0.015 0.0027 Thompson et al., 2013 DNA SEQ MLH1_03034
12 c.1388G>C - p.G463A - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03035
12 c.1388G>T - p.G463V - 0.011 0.0026 Thompson et al., 2013 DNA SEQ MLH1_03036
12 c.1390C>A - p.P464T - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03037
12 c.1390C>G - p.P464A - 0.009 0.0026 Thompson et al., 2013 DNA SEQ MLH1_03038
12 c.1390C>T - p.P464S - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03039
12 c.1391C>A - p.P464H - 0.002 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03040
12 c.1391C>G - p.P464R - 0.015 0.0027 Thompson et al., 2013 DNA SEQ MLH1_03041
12 c.1391C>T - p.P464L - 0.015 0.0027 Thompson et al., 2013 DNA SEQ MLH1_03042
12 c.1393A>C - p.T465P 1.78 - 0.0004 Thompson et al., 2013 DNA SEQ MLH1_03043
12 c.1393A>G - p.T465A 3.17 0.001 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03044
12 c.1393A>T - p.T465S 3.19 - 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03045
12 c.1394C>A - p.T465N 1.79 0.01 0.0004 Thompson et al., 2013 DNA SEQ MLH1_03046
12 c.1394C>G - p.T465S 3.19 - 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03047
12 c.1394C>T - p.T465I 3.7 0.001 0.002 Thompson et al., 2013 DNA SEQ MLH1_03048
12 c.1396T>A - p.S466T - 0.002 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03049
12 c.1396T>C - p.S466P - 0.047 0.0035 Thompson et al., 2013 DNA SEQ MLH1_03050
12 c.1396T>G - p.S466A - 0.016 0.0027 Thompson et al., 2013 DNA SEQ MLH1_03051
12 c.1397C>A - p.S466Y - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_03052
12 c.1397C>G - p.S466C - 0.195 0.0122 Thompson et al., 2013 DNA SEQ MLH1_03053
12 c.1397C>T - p.S466F - 0.068 0.0042 Thompson et al., 2013 DNA SEQ MLH1_03054
12 c.1399A>C - p.S467R 4.42 0.079 0.0041 Thompson et al., 2013 DNA SEQ MLH1_03055
12 c.1399A>G - p.S467G 4.3 0.046 0.0034 Thompson et al., 2013 DNA SEQ MLH1_03056
12 c.1399A>T - p.S467C 7.29 0.295 0.0313 Thompson et al., 2013 DNA SEQ MLH1_03057
12 c.1400G>A - p.S467N 2.28 0.079 0.0009 Thompson et al., 2013 DNA SEQ MLH1_03058
12 c.1400G>C - p.S467T 4.97 0.032 0.0044 Thompson et al., 2013 DNA SEQ MLH1_03059
12 c.1400G>T - p.S467I 9.7 0.005 0.0176 Thompson et al., 2013 DNA SEQ MLH1_03060
12 c.1401C>A - p.S467R 4.42 0.079 0.0041 Thompson et al., 2013 DNA SEQ MLH1_03061
12 c.1401C>G - p.S467R 4.42 0.079 0.0041 Thompson et al., 2013 DNA SEQ MLH1_03062
12 c.1402A>C - p.N468H 1.87 0.048 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03063
12 c.1402A>G - p.N468D 4.16 0.01 0.0027 Thompson et al., 2013 DNA SEQ MLH1_03064
12 c.1402A>T - p.N468Y 3.08 0.018 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03065
12 c.1403A>C - p.N468T 3.18 0.002 0.0014 Thompson et al., 2013 DNA SEQ MLH1_03066
12 c.1403A>G - p.N468S 2.95 - 0.0012 Thompson et al., 2013 DNA SEQ MLH1_03067
12 c.1403A>T - p.N468I 2.21 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_03068
12 c.1404C>A - p.N468K 2.81 - 0.0011 Thompson et al., 2013 DNA SEQ MLH1_03069
12 c.1404C>G - p.N468K 2.81 - 0.0011 Thompson et al., 2013 DNA SEQ MLH1_03070
12 c.1405C>A - p.P469T 2.9 0.006 0.0012 Thompson et al., 2013 DNA SEQ MLH1_03071
12 c.1405C>G - p.P469A 3.81 0.002 0.0021 Thompson et al., 2013 DNA SEQ MLH1_03072
12 c.1405C>T - p.P469S 3.82 - 0.0021 Thompson et al., 2013 DNA SEQ MLH1_03073
12 c.1406C>A - p.P469H 2.97 0.093 0.0018 Thompson et al., 2013 DNA SEQ MLH1_03074
12 c.1406C>G - p.P469R 5.96 0.027 0.0065 Thompson et al., 2013 DNA SEQ MLH1_03075
12 c.1406C>T - p.P469L 5.46 0.015 0.0051 Thompson et al., 2013 DNA SEQ MLH1_03076
12 c.1408A>G - p.R470G 10.39 0.305 0.07 Thompson et al., 2013 DNA SEQ MLH1_03077
12 c.1409G>A - p.R470K 1.28 0.009 0.0002 Thompson et al., 2013 DNA SEQ MLH1_03078
12 c.1409G>C - p.R470T 7.87 0.121 0.018 Thompson et al., 2013 DNA SEQ MLH1_03079
12 c.1409G>T - p.R470I 22.46 0.03 0.1183 Thompson et al., 2013 DNA SEQ MLH1_03080
13 c.1410A>C - p.R470S 7.86 0.016 0.0115 Thompson et al., 2013 DNA SEQ MLH1_03081
13 c.1410A>T - p.R470S 7.86 0.016 0.0115 Thompson et al., 2013 DNA SEQ MLH1_03082
13 c.1411A>C - p.K471Q 14.08 0.303 0.1295 Thompson et al., 2013 DNA SEQ MLH1_03083
13 c.1411A>G - p.K471E 23.7 0.01 0.1222 Thompson et al., 2013 DNA SEQ MLH1_03084
13 c.1412A>C - p.K471T 27.99 0.018 0.1736 Thompson et al., 2013 DNA SEQ MLH1_03085
13 c.1412A>G - p.K471R 7.31 0.037 0.0107 Thompson et al., 2013 DNA SEQ MLH1_03086
13 c.1412A>T - p.K471M 17.24 0.59 0.4444 Thompson et al., 2013 DNA SEQ MLH1_03087
13 c.1413G>C - p.K471N 14.55 0.419 0.208 Thompson et al., 2013 DNA SEQ MLH1_03088
13 c.1413G>T - p.K471N 14.55 0.419 0.208 Thompson et al., 2013 DNA SEQ MLH1_03089
13 c.1414A>G - p.R472G 25.9 0.668 0.7375 Thompson et al., 2013 DNA SEQ MLH1_03090
13 c.1415G>A - p.R472K 6.07 0.195 0.0137 Thompson et al., 2013 DNA SEQ MLH1_03091
13 c.1415G>C - p.R472T 26.48 0.299 0.3802 Thompson et al., 2013 DNA SEQ MLH1_03092
13 c.1415G>T - p.R472I 26.94 0.052 0.1821 Thompson et al., 2013 DNA SEQ MLH1_03093
13 c.1416A>C - p.R472S 21.57 0.083 0.133 Thompson et al., 2013 DNA SEQ MLH1_03094
13 c.1416A>T - p.R472S 21.57 0.083 0.133 Thompson et al., 2013 DNA SEQ MLH1_03095
13 c.1417C>A - p.H473N 5.75 0.01 0.0056 Thompson et al., 2013 DNA SEQ MLH1_03096
13 c.1417C>G - p.H473D 15.07 - 0.0456 Thompson et al., 2013 DNA SEQ MLH1_03097
13 c.1417C>T - p.H473Y 5.62 0.049 0.0062 Thompson et al., 2013 DNA SEQ MLH1_03098
13 c.1418A>C - p.H473P 0.94 - 0.0001 Thompson et al., 2013 DNA SEQ MLH1_03099
13 c.1418A>G - p.H473R 16.8 0.01 0.0599 Thompson et al., 2013 DNA SEQ MLH1_03100
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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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