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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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2 c.141T>G - p.I47M 15.7 0.998 0.7862 Thompson et al., 2013 DNA SEQ MLH1_00118
2 c.142C>A - p.Q48K 23.41 0.974 0.8916 Thompson et al., 2013 DNA SEQ MLH1_00119
2 c.142C>G - p.Q48E 23.46 0.984 0.8961 Thompson et al., 2013 DNA SEQ MLH1_00120
2 c.143A>C - p.Q48P 11.75 0.994 0.6519 Thompson et al., 2013 DNA SEQ MLH1_00121
2 c.143A>G - p.Q48R 23.34 0.935 0.8737 Thompson et al., 2013 DNA SEQ MLH1_00122
2 c.143A>T - p.Q48L 8.6 0.991 0.4766 Thompson et al., 2013 DNA SEQ MLH1_00123
2 c.144A>C - p.Q48H 11.18 0.995 0.6269 Thompson et al., 2013 DNA SEQ MLH1_00124
2 c.144A>T - p.Q48H 11.18 0.995 0.6269 Thompson et al., 2013 DNA SEQ MLH1_00125
2 c.145G>A - p.V49M 19.43 0.994 0.8543 Thompson et al., 2013 DNA SEQ MLH1_00126
2 c.145G>C - p.V49L 15.27 0.931 0.7219 Thompson et al., 2013 DNA SEQ MLH1_00127
2 c.145G>T - p.V49L 15.27 0.931 0.7219 Thompson et al., 2013 DNA SEQ MLH1_00128
2 c.146T>A - p.V49E 30.07 0.996 0.941 Thompson et al., 2013 DNA SEQ MLH1_00129
2 c.146T>C - p.V49A 22.62 0.98 0.8864 Thompson et al., 2013 DNA SEQ MLH1_00130
2 c.146T>G - p.V49G 15.35 0.995 0.7753 Thompson et al., 2013 DNA SEQ MLH1_00131
2 c.148A>C - p.I50L 6.53 0.027 0.008 Thompson et al., 2013 DNA SEQ MLH1_00132
2 c.148A>G - p.I50V 1.71 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_00133
2 c.148A>T - p.I50F 6.1 0.005 0.0062 Thompson et al., 2013 DNA SEQ MLH1_00134
2 c.149T>A - p.I50N 11.23 0.023 0.0263 Thompson et al., 2013 DNA SEQ MLH1_00135
2 c.149T>C - p.I50T 1.08 - 0.0001 Thompson et al., 2013 DNA SEQ MLH1_00136
2 c.149T>G - p.I50S 2.28 0.002 0.0007 Thompson et al., 2013 DNA SEQ MLH1_00137
2 c.150T>G - p.I50M 8.02 0.12 0.0187 Thompson et al., 2013 DNA SEQ MLH1_00138
2 c.151G>A - p.V51I 4.69 0.105 0.0052 Thompson et al., 2013 DNA SEQ MLH1_00139
2 c.151G>C - p.V51L 8.71 0.063 0.0177 Thompson et al., 2013 DNA SEQ MLH1_00140
2 c.151G>T - p.V51F 10.71 0.797 0.396 Thompson et al., 2013 DNA SEQ MLH1_00141
2 c.152T>A - p.V51D 36.33 0.867 0.9339 Thompson et al., 2013 DNA SEQ MLH1_00142
2 c.152T>C - p.V51A 12.99 0.288 0.1041 Thompson et al., 2013 DNA SEQ MLH1_00143
2 c.152T>G - p.V51G 15.19 0.797 0.5917 Thompson et al., 2013 DNA SEQ MLH1_00144
2 c.154A>C - p.K52Q 12.04 0.964 0.6353 Thompson et al., 2013 DNA SEQ MLH1_00145
2 c.154A>G - p.K52E 21.81 0.951 0.8639 Thompson et al., 2013 DNA SEQ MLH1_00146
2 c.155A>C - p.K52T 25.7 0.978 0.9118 Thompson et al., 2013 DNA SEQ MLH1_00660
2 c.155A>G - p.K52R 5.14 0.442 0.0266 Thompson et al., 2013 DNA SEQ MLH1_00661
2 c.155A>T - p.K52I 27.23 0.99 0.9254 Thompson et al., 2013 DNA SEQ MLH1_00662
2 c.156A>C - p.K52N 13.49 0.978 0.7053 Thompson et al., 2013 DNA SEQ MLH1_00663
2 c.156A>T - p.K52N 13.49 0.978 0.7053 Thompson et al., 2013 DNA SEQ MLH1_00664
2 c.157G>A - p.E53K 3.64 0.25 0.0055 Thompson et al., 2013 DNA SEQ MLH1_00665
2 c.157G>C - p.E53Q 2.39 0.159 0.0014 Thompson et al., 2013 DNA SEQ MLH1_00666
2 c.158A>C - p.E53A 5.38 0.056 0.0058 Thompson et al., 2013 DNA SEQ MLH1_00667
2 c.158A>G - p.E53G 3.28 0.068 0.002 Thompson et al., 2013 DNA SEQ MLH1_00668
2 c.158A>T - p.E53V 9.37 0.371 0.0731 Thompson et al., 2013 DNA SEQ MLH1_00669
2 c.159G>C - p.E53D 3.2 0.012 0.0015 Thompson et al., 2013 DNA SEQ MLH1_00670
2 c.159G>T - p.E53D 3.2 0.012 0.0015 Thompson et al., 2013 DNA SEQ MLH1_00671
2 c.160G>A - p.G54R 36.52 1 0.9618 Thompson et al., 2013 DNA SEQ MLH1_00672
2 c.160G>C - p.G54R 36.52 1 0.9618 Thompson et al., 2013 DNA SEQ MLH1_00673
2 c.161G>A - p.G54E 35.36 1 0.9591 Thompson et al., 2013 DNA SEQ MLH1_00674
2 c.161G>C - p.G54A 22.05 1 0.8891 Thompson et al., 2013 DNA SEQ MLH1_00675
2 c.161G>T - p.G54V 29.36 1 0.9389 Thompson et al., 2013 DNA SEQ MLH1_00676
2 c.163G>A - p.G55S 7.5 1 0.4095 Thompson et al., 2013 DNA SEQ MLH1_00677
2 c.163G>C - p.G55R 36.52 1 0.9618 Thompson et al., 2013 DNA SEQ MLH1_00678
2 c.163G>T - p.G55C 19.13 1 0.8531 Thompson et al., 2013 DNA SEQ MLH1_00679
2 c.164G>A - p.G55D 35.86 1 0.9603 Thompson et al., 2013 DNA SEQ MLH1_00680
2 c.164G>C - p.G55A 22.05 1 0.8891 Thompson et al., 2013 DNA SEQ MLH1_00681
2 c.164G>T - p.G55V 29.36 1 0.9389 Thompson et al., 2013 DNA SEQ MLH1_00682
2 c.166C>A - p.L56M 5.86 0.412 0.0313 Thompson et al., 2013 DNA SEQ MLH1_00683
2 c.166C>G - p.L56V 24.87 0.863 0.8546 Thompson et al., 2013 DNA SEQ MLH1_00684
2 c.167T>A - p.L56Q 12.22 0.989 0.6671 Thompson et al., 2013 DNA SEQ MLH1_00685
2 c.167T>C - p.L56P 36.34 0.981 0.9583 Thompson et al., 2013 DNA SEQ MLH1_00686
2 c.167T>G - p.L56R 37.93 0.989 0.9633 Thompson et al., 2013 DNA SEQ MLH1_00687
2 c.169A>C - p.K57Q 14.08 0.997 0.7409 Thompson et al., 2013 DNA SEQ MLH1_00688
2 c.169A>G - p.K57E 23.7 0.996 0.9028 Thompson et al., 2013 DNA SEQ MLH1_00689
2 c.170A>C - p.K57T 27.99 0.851 0.8796 Thompson et al., 2013 DNA SEQ MLH1_00690
2 c.170A>G - p.K57R 7.31 0.952 0.3478 Thompson et al., 2013 DNA SEQ MLH1_00691
2 c.170A>T - p.K57M 17.24 0.996 0.8185 Thompson et al., 2013 DNA SEQ MLH1_00692
2 c.171G>C - p.K57N 14.55 0.997 0.755 Thompson et al., 2013 DNA SEQ MLH1_00693
2 c.171G>T - p.K57N 14.55 0.997 0.755 Thompson et al., 2013 DNA SEQ MLH1_00694
2 c.172T>A - p.L58M 6.97 0.799 0.1996 Thompson et al., 2013 DNA SEQ MLH1_00695
2 c.172T>G - p.L58V 25.14 0.316 0.3695 Thompson et al., 2013 DNA SEQ MLH1_00696
2 c.173T>C - p.L58S 19.18 0.693 0.6124 Thompson et al., 2013 DNA SEQ MLH1_00697
2 c.173T>G - p.L58W 18.11 0.996 0.8345 Thompson et al., 2013 DNA SEQ MLH1_00698
2 c.174G>C - p.L58F 11.46 0.525 0.1935 Thompson et al., 2013 DNA SEQ MLH1_00699
2 c.174G>T - p.L58F 11.46 0.525 0.1935 Thompson et al., 2013 DNA SEQ MLH1_00700
2 c.175A>C - p.I59L 2.43 0.018 0.0008 Thompson et al., 2013 DNA SEQ MLH1_00701
2 c.175A>G - p.I59V 10.5 0.615 0.224 Thompson et al., 2013 DNA SEQ MLH1_00702
2 c.175A>T - p.I59F 8.81 0.884 0.3787 Thompson et al., 2013 DNA SEQ MLH1_00703
2 c.176T>A - p.I59N 24.47 0.946 0.8897 Thompson et al., 2013 DNA SEQ MLH1_00704
2 c.176T>C - p.I59T 22.12 0.874 0.8252 Thompson et al., 2013 DNA SEQ MLH1_00705
2 c.176T>G - p.I59S 26.1 0.927 0.896 Thompson et al., 2013 DNA SEQ MLH1_00706
2 c.177T>G - p.I59M 10.11 0.913 0.4853 Thompson et al., 2013 DNA SEQ MLH1_00707
2 c.178C>A - p.Q60K 23.26 0.334 0.3466 Thompson et al., 2013 DNA SEQ MLH1_00708
2 c.178C>G - p.Q60E 23.59 0.634 0.6628 Thompson et al., 2013 DNA SEQ MLH1_00709
2 c.179A>C - p.Q60P 33.35 0.965 0.9464 Thompson et al., 2013 DNA SEQ MLH1_00710
2 c.179A>G - p.Q60R 23.6 0.924 0.8713 Thompson et al., 2013 DNA SEQ MLH1_00711
2 c.179A>T - p.Q60L 4.5 0.334 0.0126 Thompson et al., 2013 DNA SEQ MLH1_00712
2 c.180G>C - p.Q60H 11.83 0.957 0.619 Thompson et al., 2013 DNA SEQ MLH1_00713
2 c.180G>T - p.Q60H 11.83 0.957 0.619 Thompson et al., 2013 DNA SEQ MLH1_00714
2 c.181A>C - p.I61L 10.17 0.707 0.2843 Thompson et al., 2013 DNA SEQ MLH1_00715
2 c.181A>G - p.I61V 5.74 0.143 0.0097 Thompson et al., 2013 DNA SEQ MLH1_00716
2 c.181A>T - p.I61F 8.74 0.959 0.4518 Thompson et al., 2013 DNA SEQ MLH1_00717
2 c.182T>A - p.I61N 15.4 0.981 0.766 Thompson et al., 2013 DNA SEQ MLH1_00718
2 c.182T>C - p.I61T 14.28 0.904 0.6652 Thompson et al., 2013 DNA SEQ MLH1_00719
2 c.182T>G - p.I61S 13.52 0.959 0.6893 Thompson et al., 2013 DNA SEQ MLH1_00720
2 c.183C>G - p.I61M 14.85 0.925 0.7037 Thompson et al., 2013 DNA SEQ MLH1_00721
2 c.184C>A - p.Q62K 23.13 0.945 0.8761 Thompson et al., 2013 DNA SEQ MLH1_00722
2 c.184C>G - p.Q62E 23.57 0.945 0.8807 Thompson et al., 2013 DNA SEQ MLH1_00723
2 c.185A>C - p.Q62P 21.96 0.986 0.8821 Thompson et al., 2013 DNA SEQ MLH1_00724
2 c.185A>G - p.Q62R 23.42 0.981 0.8945 Thompson et al., 2013 DNA SEQ MLH1_00725
2 c.185A>T - p.Q62L 10.31 0.562 0.181 Thompson et al., 2013 DNA SEQ MLH1_00726
2 c.186A>C - p.Q62H 12.22 0.989 0.6671 Thompson et al., 2013 DNA SEQ MLH1_00727
2 c.186A>T - p.Q62H 12.22 0.989 0.6671 Thompson et al., 2013 DNA SEQ MLH1_00728
2 c.187G>A - p.D63N 13.97 1 0.74 Thompson et al., 2013 DNA SEQ MLH1_00729
2 c.187G>C - p.D63H 20.32 1 0.8695 Thompson et al., 2013 DNA SEQ MLH1_00730
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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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