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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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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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1 c.4T>A - p.S2T 11.29 0.015 0.0257 Thompson et al., 2013 DNA SEQ MLH1_00001
1 c.4T>C - p.S2P 14.88 0.061 0.0567 Thompson et al., 2013 DNA SEQ MLH1_00002
1 c.4T>G - p.S2A 2.42 0.001 0.0008 Thompson et al., 2013 DNA SEQ MLH1_00003
1 c.5C>G - p.S2W 24.29 0.52 0.5638 Thompson et al., 2013 DNA SEQ MLH1_00004
1 c.5C>T - p.S2L 13.39 0.015 0.0375 Thompson et al., 2013 DNA SEQ MLH1_00005
1 c.7T>A - p.F3I - 0.003 0.0024 Thompson et al., 2013 DNA SEQ MLH1_00006
1 c.7T>C - p.F3L - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_00007
1 c.7T>G - p.F3V - 0.006 0.0025 Thompson et al., 2013 DNA SEQ MLH1_00008
1 c.8T>A - p.F3Y - 0.024 0.0029 Thompson et al., 2013 DNA SEQ MLH1_00009
1 c.8T>C - p.F3S - 0.008 0.0025 Thompson et al., 2013 DNA SEQ MLH1_00010
1 c.8T>G - p.F3C - 0.068 0.0042 Thompson et al., 2013 DNA SEQ MLH1_00011
1 c.9C>A - p.F3L - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_00012
1 c.9C>G - p.F3L - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_00013
1 c.10G>A - p.V4M - 0.029 0.003 Thompson et al., 2013 DNA SEQ MLH1_00014
1 c.10G>C - p.V4L - 0.131 0.0072 Thompson et al., 2013 DNA SEQ MLH1_00015
1 c.10G>T - p.V4L - 0.131 0.0072 Thompson et al., 2013 DNA SEQ MLH1_00016
1 c.11T>A - p.V4E - 0.396 0.0634 Thompson et al., 2013 DNA SEQ MLH1_00017
1 c.11T>C - p.V4A - 0.298 0.0287 Thompson et al., 2013 DNA SEQ MLH1_00018
1 c.11T>G - p.V4G - 0.525 0.1676 Thompson et al., 2013 DNA SEQ MLH1_00019
1 c.13G>A - p.A5T 4.2 0.133 0.0046 Thompson et al., 2013 DNA SEQ MLH1_00020
1 c.13G>C - p.A5P 4.44 0.007 0.0031 Thompson et al., 2013 DNA SEQ MLH1_00021
1 c.13G>T - p.A5S 3.46 0.017 0.0018 Thompson et al., 2013 DNA SEQ MLH1_00022
1 c.14C>A - p.A5E 31.49 0.294 0.4708 Thompson et al., 2013 DNA SEQ MLH1_00023
1 c.14C>G - p.A5G 3.53 0.01 0.0018 Thompson et al., 2013 DNA SEQ MLH1_00024
1 c.14C>T - p.A5V 2.42 0.294 0.0026 Thompson et al., 2013 DNA SEQ MLH1_00025
1 c.16G>A - p.G6R 32.8 0.983 0.9484 Thompson et al., 2013 DNA SEQ MLH1_00026
1 c.16G>C - p.G6R 32.8 0.983 0.9484 Thompson et al., 2013 DNA SEQ MLH1_00027
1 c.16G>T - p.G6W 6.31 0.996 0.3153 Thompson et al., 2013 DNA SEQ MLH1_00028
1 c.17G>A - p.G6E 31.62 0.964 0.9397 Thompson et al., 2013 DNA SEQ MLH1_00029
1 c.17G>C - p.G6A 3.87 0.914 0.0967 Thompson et al., 2013 DNA SEQ MLH1_00030
1 c.17G>T - p.G6V 3.05 0.964 0.0716 Thompson et al., 2013 DNA SEQ MLH1_00031
1 c.19G>A - p.V7I 4.41 0.041 0.0035 Thompson et al., 2013 DNA SEQ MLH1_00032
1 c.19G>C - p.V7L 6.79 0.117 0.0127 Thompson et al., 2013 DNA SEQ MLH1_00033
1 c.19G>T - p.V7F 6.52 0.05 0.0087 Thompson et al., 2013 DNA SEQ MLH1_00034
1 c.20T>A - p.V7D 33.34 0.513 0.7203 Thompson et al., 2013 DNA SEQ MLH1_00035
1 c.20T>C - p.V7A 7.89 0.18 0.0231 Thompson et al., 2013 DNA SEQ MLH1_00036
1 c.20T>G - p.V7G 5.21 0.365 0.0199 Thompson et al., 2013 DNA SEQ MLH1_00037
1 c.22A>C - p.I8L 10.44 0.935 0.5269 Thompson et al., 2013 DNA SEQ MLH1_00038
1 c.22A>G - p.I8V 10.65 0.739 0.3358 Thompson et al., 2013 DNA SEQ MLH1_00039
1 c.22A>T - p.I8F 10.65 0.994 0.5997 Thompson et al., 2013 DNA SEQ MLH1_00040
1 c.23T>A - p.I8N 17.95 0.997 0.8323 Thompson et al., 2013 DNA SEQ MLH1_00041
1 c.23T>C - p.I8T 19.6 0.99 0.8547 Thompson et al., 2013 DNA SEQ MLH1_00042
1 c.23T>G - p.I8S 20.83 0.994 0.8729 Thompson et al., 2013 DNA SEQ MLH1_00043
1 c.24T>G - p.I8M 15.7 0.992 0.7819 Thompson et al., 2013 DNA SEQ MLH1_00044
1 c.25C>G - p.R9G 24.2 0.914 0.8729 Thompson et al., 2013 DNA SEQ MLH1_00045
1 c.25C>T - p.R9W 19.89 0.99 0.8588 Thompson et al., 2013 DNA SEQ MLH1_00046
1 c.26G>A - p.R9Q 11.7 0.391 0.1244 Thompson et al., 2013 DNA SEQ MLH1_00047
1 c.26G>C - p.R9P 32.38 0.936 0.9359 Thompson et al., 2013 DNA SEQ MLH1_00048
1 c.26G>T - p.R9L 20.21 0.209 0.1846 Thompson et al., 2013 DNA SEQ MLH1_00049
1 c.28C>G - p.R10G 23.63 0.8 0.8001 Thompson et al., 2013 DNA SEQ MLH1_00050
1 c.28C>T - p.R10W 19.25 0.978 0.8429 Thompson et al., 2013 DNA SEQ MLH1_00051
1 c.29G>A - p.R10Q 10.95 0.757 0.3677 Thompson et al., 2013 DNA SEQ MLH1_00052
1 c.29G>C - p.R10P 29 0.91 0.9105 Thompson et al., 2013 DNA SEQ MLH1_00053
1 c.29G>T - p.R10L 20.56 0.871 0.7979 Thompson et al., 2013 DNA SEQ MLH1_00054
1 c.31C>A - p.L11M 10.65 0.999 0.6048 Thompson et al., 2013 DNA SEQ MLH1_00055
1 c.31C>G - p.L11V 25.8 0.999 0.9194 Thompson et al., 2013 DNA SEQ MLH1_00056
1 c.32T>A - p.L11Q 15.01 0.999 0.7693 Thompson et al., 2013 DNA SEQ MLH1_00057
1 c.32T>C - p.L11P 36.32 0.999 0.9612 Thompson et al., 2013 DNA SEQ MLH1_00058
1 c.32T>G - p.L11R 33.02 0.999 0.9523 Thompson et al., 2013 DNA SEQ MLH1_00059
1 c.34G>A - p.D12N 13.9 0.913 0.6601 Thompson et al., 2013 DNA SEQ MLH1_00060
1 c.34G>C - p.D12H 18.42 0.958 0.8168 Thompson et al., 2013 DNA SEQ MLH1_00061
1 c.34G>T - p.D12Y 14.31 0.975 0.7299 Thompson et al., 2013 DNA SEQ MLH1_00062
1 c.35A>C - p.D12A 22.31 0.617 0.617 Thompson et al., 2013 DNA SEQ MLH1_00063
1 c.35A>G - p.D12G 18.21 0.885 0.7609 Thompson et al., 2013 DNA SEQ MLH1_00064
1 c.35A>T - p.D12V 24.56 0.946 0.8906 Thompson et al., 2013 DNA SEQ MLH1_00065
1 c.36C>A - p.D12E 3.66 0.24 0.0053 Thompson et al., 2013 DNA SEQ MLH1_00066
1 c.36C>G - p.D12E 3.66 0.24 0.0053 Thompson et al., 2013 DNA SEQ MLH1_00067
1 c.37G>A - p.E13K 19.98 0.986 0.858 Thompson et al., 2013 DNA SEQ MLH1_00068
1 c.37G>C - p.E13Q 13.2 0.935 0.6548 Thompson et al., 2013 DNA SEQ MLH1_00069
1 c.38A>C - p.E13A 24.45 0.995 0.9085 Thompson et al., 2013 DNA SEQ MLH1_00070
1 c.38A>G - p.E13G 28.23 0.996 0.9325 Thompson et al., 2013 DNA SEQ MLH1_00071
1 c.38A>T - p.E13V 31.34 0.996 0.946 Thompson et al., 2013 DNA SEQ MLH1_00072
1 c.39G>C - p.E13D 13.31 0.995 0.7139 Thompson et al., 2013 DNA SEQ MLH1_00073
1 c.39G>T - p.E13D 13.31 0.995 0.7139 Thompson et al., 2013 DNA SEQ MLH1_00074
1 c.40A>C - p.T14P 8.87 0.597 0.1542 Thompson et al., 2013 DNA SEQ MLH1_00075
1 c.40A>G - p.T14A 6.61 0.049 0.009 Thompson et al., 2013 DNA SEQ MLH1_00076
1 c.40A>T - p.T14S 1.57 0.371 0.0014 Thompson et al., 2013 DNA SEQ MLH1_00077
1 c.41C>A - p.T14K 6.35 0.042 0.008 Thompson et al., 2013 DNA SEQ MLH1_00078
1 c.41C>G - p.T14R 7.31 0.597 0.1052 Thompson et al., 2013 DNA SEQ MLH1_00079
1 c.41C>T - p.T14I 6.97 0.132 0.0143 Thompson et al., 2013 DNA SEQ MLH1_00080
1 c.43G>A - p.V15M 24.43 0.998 0.9094 Thompson et al., 2013 DNA SEQ MLH1_00081
1 c.43G>C - p.V15L 20.81 0.994 0.8727 Thompson et al., 2013 DNA SEQ MLH1_00082
1 c.43G>T - p.V15L 20.81 0.994 0.8727 Thompson et al., 2013 DNA SEQ MLH1_00083
1 c.44T>A - p.V15E 32.45 0.998 0.9503 Thompson et al., 2013 DNA SEQ MLH1_00084
1 c.44T>C - p.V15A 27.75 0.997 0.9303 Thompson et al., 2013 DNA SEQ MLH1_00085
1 c.44T>G - p.V15G 23.22 0.998 0.8994 Thompson et al., 2013 DNA SEQ MLH1_00086
1 c.46G>A - p.V16M 24.43 0.986 0.9051 Thompson et al., 2013 DNA SEQ MLH1_00087
1 c.46G>C - p.V16L 20.81 0.896 0.8187 Thompson et al., 2013 DNA SEQ MLH1_00088
1 c.46G>T - p.V16L 20.81 0.896 0.8187 Thompson et al., 2013 DNA SEQ MLH1_00089
1 c.47T>A - p.V16E 32.45 0.989 0.9484 Thompson et al., 2013 DNA SEQ MLH1_00090
1 c.47T>C - p.V16A 27.75 0.973 0.9233 Thompson et al., 2013 DNA SEQ MLH1_00091
1 c.47T>G - p.V16G 23.22 0.989 0.8959 Thompson et al., 2013 DNA SEQ MLH1_00092
1 c.49A>C - p.N17H 14.29 0.999 0.7489 Thompson et al., 2013 DNA SEQ MLH1_00093
1 c.49A>G - p.N17D 29.27 0.999 0.9382 Thompson et al., 2013 DNA SEQ MLH1_00094
1 c.49A>T - p.N17Y 20.2 0.999 0.8675 Thompson et al., 2013 DNA SEQ MLH1_00095
1 c.50A>C - p.N17T 16.73 0.999 0.8101 Thompson et al., 2013 DNA SEQ MLH1_00096
1 c.50A>G - p.N17S 13.4 0.999 0.7205 Thompson et al., 2013 DNA SEQ MLH1_00097
1 c.50A>T - p.N17I 22.05 0.999 0.8887 Thompson et al., 2013 DNA SEQ MLH1_00098
1 c.51C>A - p.N17K 25.31 0.999 0.9161 Thompson et al., 2013 DNA SEQ MLH1_00099
1 c.51C>G - p.N17K 25.31 0.999 0.9161 Thompson et al., 2013 DNA SEQ MLH1_00100
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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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