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

About this overview [Show]

4981 entries
entries per page

Exon Hide Exon column Descending
Ascending

DNA change   Descending
Ascending

RNA change Hide RNA change column Descending
Ascending

Protein Hide Protein column Descending
Ascending

MAPP score Hide MAPP score column Descending
Ascending

Custom PP2.1 score Hide Custom PP2.1 score column Descending
Ascending

MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
Ascending

Reference Hide Reference column Descending
Ascending

Template Hide Template column Descending
Ascending

Technique Hide Technique column Descending
Ascending

DB-ID Hide DB-ID column Descending
Ascending
10 c.828A>G - p.I276M 10.25 0.58 0.1906 Thompson et al., 2013 DNA SEQ MLH1_02011
10 c.829G>A - p.E277K 18.2 0.951 0.8081 Thompson et al., 2013 DNA SEQ MLH1_02012
10 c.829G>C - p.E277Q 13.76 0.835 0.5765 Thompson et al., 2013 DNA SEQ MLH1_02013
10 c.830A>C - p.E277A 23.13 0.982 0.8922 Thompson et al., 2013 DNA SEQ MLH1_02014
10 c.830A>G - p.E277G 19.35 0.983 0.8472 Thompson et al., 2013 DNA SEQ MLH1_02015
10 c.830A>T - p.E277V 24.26 0.993 0.9063 Thompson et al., 2013 DNA SEQ MLH1_02016
10 c.831A>C - p.E277D 4.66 0.493 0.0264 Thompson et al., 2013 DNA SEQ MLH1_02017
10 c.831A>T - p.E277D 4.66 0.493 0.0264 Thompson et al., 2013 DNA SEQ MLH1_02018
10 c.832A>C - p.T278P 8.14 0.128 0.0199 Thompson et al., 2013 DNA SEQ MLH1_02019
10 c.832A>G - p.T278A 5.23 0.002 0.0043 Thompson et al., 2013 DNA SEQ MLH1_02020
10 c.832A>T - p.T278S 1.62 0.002 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02021
10 c.833C>A - p.T278K 27.53 0.053 0.1902 Thompson et al., 2013 DNA SEQ MLH1_02022
10 c.833C>G - p.T278R 32.18 0.09 0.2816 Thompson et al., 2013 DNA SEQ MLH1_02023
10 c.833C>T - p.T278I 5.28 0.128 0.0076 Thompson et al., 2013 DNA SEQ MLH1_02024
10 c.835G>A - p.V279M 24.43 0.841 0.8371 Thompson et al., 2013 DNA SEQ MLH1_02025
10 c.835G>C - p.V279L 20.81 0.595 0.556 Thompson et al., 2013 DNA SEQ MLH1_02026
10 c.835G>T - p.V279L 20.81 0.595 0.556 Thompson et al., 2013 DNA SEQ MLH1_02027
10 c.836T>A - p.V279E 32.45 0.988 0.9482 Thompson et al., 2013 DNA SEQ MLH1_02028
10 c.836T>C - p.V279A 27.75 0.97 0.9224 Thompson et al., 2013 DNA SEQ MLH1_02029
10 c.836T>G - p.V279G 23.22 0.993 0.8975 Thompson et al., 2013 DNA SEQ MLH1_02030
10 c.838T>A - p.Y280N 17.86 0.999 0.8319 Thompson et al., 2013 DNA SEQ MLH1_02031
10 c.838T>C - p.Y280H 16.52 0.999 0.8057 Thompson et al., 2013 DNA SEQ MLH1_02032
10 c.838T>G - p.Y280D 35.81 0.999 0.96 Thompson et al., 2013 DNA SEQ MLH1_02033
10 c.839A>C - p.Y280S 18.59 0.999 0.8442 Thompson et al., 2013 DNA SEQ MLH1_02034
10 c.839A>G - p.Y280C 23.02 1 0.8984 Thompson et al., 2013 DNA SEQ MLH1_02035
10 c.839A>T - p.Y280F 22.82 0.999 0.8962 Thompson et al., 2013 DNA SEQ MLH1_02036
10 c.841G>A - p.A281T 5.82 0.359 0.0248 Thompson et al., 2013 DNA SEQ MLH1_02037
10 c.841G>C - p.A281P 8.25 0.971 0.4321 Thompson et al., 2013 DNA SEQ MLH1_02038
10 c.841G>T - p.A281S 2.6 0.242 0.0025 Thompson et al., 2013 DNA SEQ MLH1_02039
10 c.842C>A - p.A281E 4.54 0.496 0.0253 Thompson et al., 2013 DNA SEQ MLH1_02040
10 c.842C>G - p.A281G 2.73 0.496 0.0081 Thompson et al., 2013 DNA SEQ MLH1_02041
10 c.842C>T - p.A281V 8.47 0.899 0.3728 Thompson et al., 2013 DNA SEQ MLH1_02042
10 c.844G>A - p.A282T 7.34 0.023 0.0102 Thompson et al., 2013 DNA SEQ MLH1_02043
10 c.844G>C - p.A282P 10.31 0.638 0.234 Thompson et al., 2013 DNA SEQ MLH1_02044
10 c.844G>T - p.A282S 5.06 0.04 0.0047 Thompson et al., 2013 DNA SEQ MLH1_02045
10 c.845C>A - p.A282D 41.72 0.638 0.8794 Thompson et al., 2013 DNA SEQ MLH1_02046
10 c.845C>G - p.A282G 5.47 0.395 0.0251 Thompson et al., 2013 DNA SEQ MLH1_02047
10 c.845C>T - p.A282V 7.63 0.04 0.0119 Thompson et al., 2013 DNA SEQ MLH1_02048
10 c.847T>A - p.Y283N 17.86 0.999 0.8319 Thompson et al., 2013 DNA SEQ MLH1_02049
10 c.847T>C - p.Y283H 16.52 0.999 0.8057 Thompson et al., 2013 DNA SEQ MLH1_02050
10 c.847T>G - p.Y283D 35.81 0.999 0.96 Thompson et al., 2013 DNA SEQ MLH1_02051
10 c.848A>C - p.Y283S 18.59 0.999 0.8442 Thompson et al., 2013 DNA SEQ MLH1_02052
10 c.848A>G - p.Y283C 23.02 1 0.8984 Thompson et al., 2013 DNA SEQ MLH1_02053
10 c.848A>T - p.Y283F 22.82 0.999 0.8962 Thompson et al., 2013 DNA SEQ MLH1_02054
10 c.850T>A - p.L284M 10.65 1 0.6058 Thompson et al., 2013 DNA SEQ MLH1_02055
10 c.850T>G - p.L284V 25.8 0.999 0.9194 Thompson et al., 2013 DNA SEQ MLH1_02056
10 c.851T>C - p.L284S 22.76 1 0.896 Thompson et al., 2013 DNA SEQ MLH1_02057
10 c.851T>G - p.L284W 22.06 1 0.8892 Thompson et al., 2013 DNA SEQ MLH1_02058
10 c.852G>C - p.L284F 12.59 1 0.692 Thompson et al., 2013 DNA SEQ MLH1_02059
10 c.852G>T - p.L284F 12.59 1 0.692 Thompson et al., 2013 DNA SEQ MLH1_02060
10 c.853C>A - p.P285T 17.77 0.994 0.8273 Thompson et al., 2013 DNA SEQ MLH1_02061
10 c.853C>G - p.P285A 20 0.911 0.8147 Thompson et al., 2013 DNA SEQ MLH1_02062
10 c.853C>T - p.P285S 17.5 0.99 0.8197 Thompson et al., 2013 DNA SEQ MLH1_02063
10 c.854C>A - p.P285H 19.31 0.997 0.8542 Thompson et al., 2013 DNA SEQ MLH1_02064
10 c.854C>G - p.P285R 41.48 0.997 0.9708 Thompson et al., 2013 DNA SEQ MLH1_02065
10 c.854C>T - p.P285L 26.92 0.994 0.9248 Thompson et al., 2013 DNA SEQ MLH1_02066
10 c.856A>C - p.K286Q 14.08 0.996 0.7401 Thompson et al., 2013 DNA SEQ MLH1_02067
10 c.856A>G - p.K286E 23.7 0.992 0.9013 Thompson et al., 2013 DNA SEQ MLH1_02068
10 c.857A>C - p.K286T 27.99 0.996 0.9313 Thompson et al., 2013 DNA SEQ MLH1_02069
10 c.857A>G - p.K286R 7.31 0.911 0.3093 Thompson et al., 2013 DNA SEQ MLH1_02070
10 c.857A>T - p.K286I 25.96 0.997 0.9198 Thompson et al., 2013 DNA SEQ MLH1_02071
10 c.858A>C - p.K286N 14.55 0.996 0.7542 Thompson et al., 2013 DNA SEQ MLH1_02072
10 c.858A>T - p.K286N 14.55 0.996 0.7542 Thompson et al., 2013 DNA SEQ MLH1_02073
10 c.859A>C - p.N287H 11.48 0.02 0.0273 Thompson et al., 2013 DNA SEQ MLH1_02074
10 c.859A>G - p.N287D 24.03 0.154 0.2097 Thompson et al., 2013 DNA SEQ MLH1_02075
10 c.859A>T - p.N287Y 9.95 0.403 0.0938 Thompson et al., 2013 DNA SEQ MLH1_02076
10 c.860A>C - p.N287T 8.09 0.068 0.0153 Thompson et al., 2013 DNA SEQ MLH1_02077
10 c.860A>G - p.N287S 3.71 0.005 0.002 Thompson et al., 2013 DNA SEQ MLH1_02078
10 c.860A>T - p.N287I 9.63 0.529 0.1412 Thompson et al., 2013 DNA SEQ MLH1_02079
10 c.861C>A - p.N287K 23.09 0.011 0.1164 Thompson et al., 2013 DNA SEQ MLH1_02080
10 c.861C>G - p.N287K 23.09 0.011 0.1164 Thompson et al., 2013 DNA SEQ MLH1_02081
10 c.862A>C - p.T288P 8.85 0.452 0.0891 Thompson et al., 2013 DNA SEQ MLH1_02082
10 c.862A>G - p.T288A 6.49 0.022 0.0077 Thompson et al., 2013 DNA SEQ MLH1_02083
10 c.862A>T - p.T288S 1.35 0.011 0.0002 Thompson et al., 2013 DNA SEQ MLH1_02084
10 c.863C>A - p.T288K 26.57 0.019 0.1579 Thompson et al., 2013 DNA SEQ MLH1_02085
10 c.863C>G - p.T288R 30.41 0.311 0.4691 Thompson et al., 2013 DNA SEQ MLH1_02086
10 c.863C>T - p.T288I 6.16 0.578 0.0685 Thompson et al., 2013 DNA SEQ MLH1_02087
10 c.865C>A - p.H289N 17.77 0.99 0.8248 Thompson et al., 2013 DNA SEQ MLH1_02088
10 c.865C>G - p.H289D 36.64 0.993 0.961 Thompson et al., 2013 DNA SEQ MLH1_02089
10 c.865C>T - p.H289Y 18.27 0.595 0.4824 Thompson et al., 2013 DNA SEQ MLH1_02090
10 c.866A>C - p.H289P 43.5 0.995 0.9735 Thompson et al., 2013 DNA SEQ MLH1_02091
10 c.866A>G - p.H289R 31.55 0.993 0.9461 Thompson et al., 2013 DNA SEQ MLH1_02092
10 c.866A>T - p.H289L 25.24 0.99 0.9126 Thompson et al., 2013 DNA SEQ MLH1_02093
10 c.867C>A - p.H289Q 14.29 0.993 0.7441 Thompson et al., 2013 DNA SEQ MLH1_02094
10 c.867C>G - p.H289Q 14.29 0.993 0.7441 Thompson et al., 2013 DNA SEQ MLH1_02095
10 c.868C>A - p.P290T 17.77 0.995 0.8279 Thompson et al., 2013 DNA SEQ MLH1_02096
10 c.868C>G - p.P290A 20 0.996 0.8633 Thompson et al., 2013 DNA SEQ MLH1_02097
10 c.868C>T - p.P290S 17.5 0.96 0.8001 Thompson et al., 2013 DNA SEQ MLH1_02098
10 c.869C>A - p.P290Q 17.67 0.999 0.8285 Thompson et al., 2013 DNA SEQ MLH1_02099
10 c.869C>G - p.P290R 41.48 0.999 0.971 Thompson et al., 2013 DNA SEQ MLH1_02100
10 c.869C>T - p.P290L 26.92 0.999 0.9263 Thompson et al., 2013 DNA SEQ MLH1_02101
10 c.871T>A - p.F291I 10.86 0.995 0.6113 Thompson et al., 2013 DNA SEQ MLH1_02102
10 c.871T>C - p.F291L 12.82 0.982 0.6844 Thompson et al., 2013 DNA SEQ MLH1_02103
10 c.871T>G - p.F291V 17.61 0.993 0.8237 Thompson et al., 2013 DNA SEQ MLH1_02104
10 c.872T>A - p.F291Y 16.28 0.973 0.7821 Thompson et al., 2013 DNA SEQ MLH1_02105
10 c.872T>C - p.F291S 19.43 0.993 0.8538 Thompson et al., 2013 DNA SEQ MLH1_02106
10 c.872T>G - p.F291C 17.91 0.996 0.831 Thompson et al., 2013 DNA SEQ MLH1_02107
10 c.873C>A - p.F291L 12.82 0.982 0.6844 Thompson et al., 2013 DNA SEQ MLH1_02108
10 c.873C>G - p.F291L 12.82 0.982 0.6844 Thompson et al., 2013 DNA SEQ MLH1_02109
10 c.874C>A - p.L292M 10.34 0.725 0.3082 Thompson et al., 2013 DNA SEQ MLH1_02110
1801 - 1900
[<<] [<-] ... 14 15 16 17 18 19 20 21 22 23 24 ... [->] [>>]


Save Click here to save this list in a tab-delimited text file.

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.