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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 MSH6_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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Custom PP2.1 score Hide Custom PP2.1 score column Descending
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MAPP score Hide MAPP score column Descending
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MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
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Reference Hide Reference column Descending
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Template Hide Template column Descending
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Technique Hide Technique column Descending
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DB-ID Hide DB-ID column Descending
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10 c.4057T>G - p.L1353V 0.005 10.38 0.0205 Thompson et al., 2013 DNA SEQ MSH6_08901
10 c.4058T>C - p.L1353S 0.042 21.40 0.1123 Thompson et al., 2013 DNA SEQ MSH6_08902
10 c.4058T>G - p.L1353W 0.649 17.16 0.5043 Thompson et al., 2013 DNA SEQ MSH6_08903
10 c.4059G>C - p.L1353F 0.377 7.56 0.0473 Thompson et al., 2013 DNA SEQ MSH6_08904
10 c.4059G>T - p.L1353F 0.377 7.56 0.0473 Thompson et al., 2013 DNA SEQ MSH6_08905
10 c.4060C>A - p.L1354M 0.047 3.08 0.0016 Thompson et al., 2013 DNA SEQ MSH6_08906
10 c.4060C>G - p.L1354V 0.077 3.55 0.0025 Thompson et al., 2013 DNA SEQ MSH6_08907
10 c.4061T>A - p.L1354Q 0.573 1.82 0.0045 Thompson et al., 2013 DNA SEQ MSH6_08908
10 c.4061T>C - p.L1354P 0.447 12.58 0.1754 Thompson et al., 2013 DNA SEQ MSH6_08909
10 c.4061T>G - p.L1354R 0.573 23.63 0.6035 Thompson et al., 2013 DNA SEQ MSH6_08910
10 c.4063A>C - p.T1355P 0.015 8.65 0.0142 Thompson et al., 2013 DNA SEQ MSH6_08911
10 c.4063A>G - p.T1355A 0.001 4.49 0.0031 Thompson et al., 2013 DNA SEQ MSH6_08912
10 c.4063A>T - p.T1355S 0.009 1.81 0.0004 Thompson et al., 2013 DNA SEQ MSH6_08913
10 c.4064C>A - p.T1355N 0.005 2.48 0.0008 Thompson et al., 2013 DNA SEQ MSH6_08914
10 c.4064C>G - p.T1355S 0.009 1.81 0.0004 Thompson et al., 2013 DNA SEQ MSH6_08915
10 c.4064C>T - p.T1355I 0.005 4.92 0.0038 Thompson et al., 2013 DNA SEQ MSH6_08916
10 c.4066T>A - p.L1356M 0.005 1.44 0.0002 Thompson et al., 2013 DNA SEQ MSH6_08917
10 c.4066T>G - p.L1356V 0.002 4.54 0.0032 Thompson et al., 2013 DNA SEQ MSH6_08918
10 c.4067T>C - p.L1356S 0.003 4.42 0.0030 Thompson et al., 2013 DNA SEQ MSH6_08919
10 c.4067T>G - p.L1356W 0.388 5.26 0.0223 Thompson et al., 2013 DNA SEQ MSH6_08920
10 c.4068G>C - p.L1356F 0.175 2.96 0.0025 Thompson et al., 2013 DNA SEQ MSH6_08921
10 c.4068G>T - p.L1356F 0.175 2.96 0.0025 Thompson et al., 2013 DNA SEQ MSH6_08922
10 c.4069A>C - p.I1357L 0.000 2.61 0.0009 Thompson et al., 2013 DNA SEQ MSH6_08923
10 c.4069A>G - p.I1357V 0.000 5.03 0.0039 Thompson et al., 2013 DNA SEQ MSH6_08924
10 c.4069A>T - p.I1357F 0.027 4.41 0.0033 Thompson et al., 2013 DNA SEQ MSH6_08925
10 c.4070T>A - p.I1357N 0.044 6.63 0.0088 Thompson et al., 2013 DNA SEQ MSH6_08926
10 c.4070T>C - p.I1357T 0.006 8.14 0.0120 Thompson et al., 2013 DNA SEQ MSH6_08927
10 c.4070T>G - p.I1357S 0.015 9.82 0.0189 Thompson et al., 2013 DNA SEQ MSH6_08928
10 c.4071T>G - p.I1357M 0.004 4.10 0.0025 Thompson et al., 2013 DNA SEQ MSH6_08929
10 c.4072A>C - p.K1358Q 0.001 1.71 0.0003 Thompson et al., 2013 DNA SEQ MSH6_08930
10 c.4072A>G - p.K1358E 0.001 2.61 0.0009 Thompson et al., 2013 DNA SEQ MSH6_08931
10 c.4073A>C - p.K1358T 0.007 8.01 0.0116 Thompson et al., 2013 DNA SEQ MSH6_08932
10 c.4073A>G - p.K1358R 0.001 3.28 0.0015 Thompson et al., 2013 DNA SEQ MSH6_08933
10 c.4073A>T - p.K1358M 0.047 5.07 0.0049 Thompson et al., 2013 DNA SEQ MSH6_08934
10 c.4074G>C - p.K1358N 0.001 4.24 0.0027 Thompson et al., 2013 DNA SEQ MSH6_08935
10 c.4074G>T - p.K1358N 0.001 4.24 0.0027 Thompson et al., 2013 DNA SEQ MSH6_08936
10 c.4075G>A - p.E1359K 0.004 2.15 0.0006 Thompson et al., 2013 DNA SEQ MSH6_08937
10 c.4075G>C - p.E1359Q 0.006 2.08 0.0005 Thompson et al., 2013 DNA SEQ MSH6_08938
10 c.4076A>C - p.E1359A 0.026 9.90 0.0201 Thompson et al., 2013 DNA SEQ MSH6_08939
10 c.4076A>G - p.E1359G 0.001 5.55 0.0049 Thompson et al., 2013 DNA SEQ MSH6_08940
10 c.4076A>T - p.E1359V 0.003 13.91 0.0387 Thompson et al., 2013 DNA SEQ MSH6_08941
10 c.4077A>C - p.E1359D 0.026 3.55 0.0020 Thompson et al., 2013 DNA SEQ MSH6_08942
10 c.4077A>T - p.E1359D 0.026 3.55 0.0020 Thompson et al., 2013 DNA SEQ MSH6_08943
10 c.4078T>A - p.L1360I 0.684 3.85 0.0382 Thompson et al., 2013 DNA SEQ MSH6_08944
10 c.4078T>G - p.L1360V 0.594 6.17 0.0732 Thompson et al., 2013 DNA SEQ MSH6_08945
10 c.4079T>C - p.L1360S 0.464 3.70 0.0140 Thompson et al., 2013 DNA SEQ MSH6_08946
10 c.4080A>C - p.L1360F 0.798 3.02 0.0359 Thompson et al., 2013 DNA SEQ MSH6_08947
10 c.4080A>T - p.L1360F 0.798 3.02 0.0359 Thompson et al., 2013 DNA SEQ MSH6_08948
8901 - 8948
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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: [ MSH6_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. Custom PP2.1 score: Custom PolyPhen 2.1 score MAPP score: output score from MAPP 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. MSH6 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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