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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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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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18 c.2047T>C - p.F683L 12.82 0.969 0.6723 Thompson et al., 2013 DNA SEQ MLH1_04501
18 c.2047T>G - p.F683V 17.61 0.965 0.8057 Thompson et al., 2013 DNA SEQ MLH1_04502
18 c.2048T>A - p.F683Y 16.28 0.454 0.2824 Thompson et al., 2013 DNA SEQ MLH1_04503
18 c.2048T>C - p.F683S 19.43 0.979 0.8462 Thompson et al., 2013 DNA SEQ MLH1_04504
18 c.2048T>G - p.F683C 17.91 0.997 0.8316 Thompson et al., 2013 DNA SEQ MLH1_04505
18 c.2049C>A - p.F683L 12.82 0.969 0.6723 Thompson et al., 2013 DNA SEQ MLH1_04506
18 c.2049C>G - p.F683L 12.82 0.969 0.6723 Thompson et al., 2013 DNA SEQ MLH1_04507
18 c.2050T>A - p.Y684N 21.05 0.99 0.8737 Thompson et al., 2013 DNA SEQ MLH1_04508
18 c.2050T>C - p.Y684H 17.57 0.984 0.8173 Thompson et al., 2013 DNA SEQ MLH1_04509
18 c.2050T>G - p.Y684D 28.48 0.99 0.9321 Thompson et al., 2013 DNA SEQ MLH1_04510
18 c.2051A>C - p.Y684S 17.29 0.979 0.8085 Thompson et al., 2013 DNA SEQ MLH1_04511
18 c.2051A>G - p.Y684C 14.49 0.997 0.7532 Thompson et al., 2013 DNA SEQ MLH1_04512
18 c.2051A>T - p.Y684F 6.17 0.454 0.0417 Thompson et al., 2013 DNA SEQ MLH1_04513
18 c.2053T>A - p.S685T 9.21 0.028 0.0173 Thompson et al., 2013 DNA SEQ MLH1_04514
18 c.2053T>C - p.S685P 14.39 0.616 0.3722 Thompson et al., 2013 DNA SEQ MLH1_04515
18 c.2053T>G - p.S685A 4.78 0.019 0.0038 Thompson et al., 2013 DNA SEQ MLH1_04516
18 c.2054C>A - p.S685Y 12.78 0.679 0.372 Thompson et al., 2013 DNA SEQ MLH1_04517
18 c.2054C>G - p.S685C 10.21 0.679 0.2624 Thompson et al., 2013 DNA SEQ MLH1_04518
18 c.2054C>T - p.S685F 9.91 0.679 0.2495 Thompson et al., 2013 DNA SEQ MLH1_04519
18 c.2056A>C - p.I686L 7.91 0.019 0.0118 Thompson et al., 2013 DNA SEQ MLH1_04520
18 c.2056A>G - p.I686V 4.44 0.001 0.003 Thompson et al., 2013 DNA SEQ MLH1_04521
18 c.2056A>T - p.I686F 6.32 0.003 0.0067 Thompson et al., 2013 DNA SEQ MLH1_04522
18 c.2057T>A - p.I686N 12.88 0.182 0.0677 Thompson et al., 2013 DNA SEQ MLH1_04523
18 c.2057T>C - p.I686T 9.62 0.019 0.0183 Thompson et al., 2013 DNA SEQ MLH1_04524
18 c.2057T>G - p.I686S 8.95 0.047 0.0176 Thompson et al., 2013 DNA SEQ MLH1_04525
18 c.2058C>G - p.I686M 11.45 0.011 0.0261 Thompson et al., 2013 DNA SEQ MLH1_04526
18 c.2059C>G - p.R687G 16.19 0.022 0.0581 Thompson et al., 2013 DNA SEQ MLH1_04527
18 c.2059C>T - p.R687W 11.89 0.772 0.4276 Thompson et al., 2013 DNA SEQ MLH1_04528
18 c.2060G>A - p.R687Q 4.49 0.031 0.0035 Thompson et al., 2013 DNA SEQ MLH1_04529
18 c.2060G>C - p.R687P 28.65 0.022 0.1839 Thompson et al., 2013 DNA SEQ MLH1_04530
18 c.2060G>T - p.R687L 20.36 0.165 0.1603 Thompson et al., 2013 DNA SEQ MLH1_04531
18 c.2062A>C - p.K688Q 2.95 0.101 0.0018 Thompson et al., 2013 DNA SEQ MLH1_04532
18 c.2062A>G - p.K688E 4.3 0.143 0.0051 Thompson et al., 2013 DNA SEQ MLH1_04533
18 c.2063A>C - p.K688T 4.39 0.227 0.0076 Thompson et al., 2013 DNA SEQ MLH1_04534
18 c.2063A>G - p.K688R 3.08 0.419 0.0077 Thompson et al., 2013 DNA SEQ MLH1_04535
18 c.2063A>T - p.K688M 8.09 0.59 0.1256 Thompson et al., 2013 DNA SEQ MLH1_04536
18 c.2064G>C - p.K688N 2.6 0.037 0.001 Thompson et al., 2013 DNA SEQ MLH1_04537
18 c.2064G>T - p.K688N 2.6 0.037 0.001 Thompson et al., 2013 DNA SEQ MLH1_04538
18 c.2065C>A - p.Q689K 3.72 0.042 0.0024 Thompson et al., 2013 DNA SEQ MLH1_04539
18 c.2065C>G - p.Q689E 3.12 0.003 0.0014 Thompson et al., 2013 DNA SEQ MLH1_04540
18 c.2066A>C - p.Q689P 8.36 0.073 0.0168 Thompson et al., 2013 DNA SEQ MLH1_04541
18 c.2066A>G - p.Q689R 5.2 0.042 0.0051 Thompson et al., 2013 DNA SEQ MLH1_04542
18 c.2066A>T - p.Q689L 11.8 0.042 0.0317 Thompson et al., 2013 DNA SEQ MLH1_04543
18 c.2067G>C - p.Q689H 3.65 0.175 0.004 Thompson et al., 2013 DNA SEQ MLH1_04544
18 c.2067G>T - p.Q689H 3.65 0.175 0.004 Thompson et al., 2013 DNA SEQ MLH1_04545
18 c.2068T>A - p.Y690N 5.49 0.119 0.0079 Thompson et al., 2013 DNA SEQ MLH1_04546
18 c.2068T>C - p.Y690H 12.08 0.003 0.0284 Thompson et al., 2013 DNA SEQ MLH1_04547
18 c.2068T>G - p.Y690D 25.3 0.166 0.2389 Thompson et al., 2013 DNA SEQ MLH1_04548
18 c.2069A>C - p.Y690S 2.98 0.005 0.0012 Thompson et al., 2013 DNA SEQ MLH1_04549
18 c.2069A>G - p.Y690C 2.54 0.398 0.0045 Thompson et al., 2013 DNA SEQ MLH1_04550
18 c.2069A>T - p.Y690F 2.96 0.005 0.0012 Thompson et al., 2013 DNA SEQ MLH1_04551
18 c.2071A>C - p.I691L 3.31 0.007 0.0016 Thompson et al., 2013 DNA SEQ MLH1_04552
18 c.2071A>G - p.I691V 1.6 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_04553
18 c.2071A>T - p.I691L 3.31 0.007 0.0016 Thompson et al., 2013 DNA SEQ MLH1_04554
18 c.2072T>A - p.I691K 3.94 0.001 0.0023 Thompson et al., 2013 DNA SEQ MLH1_04555
18 c.2072T>C - p.I691T 2.2 - 0.0006 Thompson et al., 2013 DNA SEQ MLH1_04556
18 c.2072T>G - p.I691R 4.55 0.018 0.0034 Thompson et al., 2013 DNA SEQ MLH1_04557
18 c.2073A>G - p.I691M 3.84 0.027 0.0024 Thompson et al., 2013 DNA SEQ MLH1_04558
18 c.2074T>A - p.S692T 3.15 0.015 0.0015 Thompson et al., 2013 DNA SEQ MLH1_04559
18 c.2074T>C - p.S692P 2.7 0.001 0.001 Thompson et al., 2013 DNA SEQ MLH1_04560
18 c.2074T>G - p.S692A 2.63 0.001 0.0009 Thompson et al., 2013 DNA SEQ MLH1_04561
18 c.2075C>A - p.S692Y 2.96 0.039 0.0014 Thompson et al., 2013 DNA SEQ MLH1_04562
18 c.2075C>G - p.S692C 2.24 0.093 0.0009 Thompson et al., 2013 DNA SEQ MLH1_04563
18 c.2075C>T - p.S692F 1.89 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_04564
18 c.2077G>A - p.E693K 4.5 0.031 0.0035 Thompson et al., 2013 DNA SEQ MLH1_04565
18 c.2077G>C - p.E693Q 2.9 0.045 0.0014 Thompson et al., 2013 DNA SEQ MLH1_04566
18 c.2078A>C - p.E693A 6.42 0.002 0.0069 Thompson et al., 2013 DNA SEQ MLH1_04567
18 c.2078A>G - p.E693G 4.93 0.018 0.0041 Thompson et al., 2013 DNA SEQ MLH1_04568
18 c.2078A>T - p.E693V 8.69 0.021 0.0147 Thompson et al., 2013 DNA SEQ MLH1_04569
18 c.2079G>C - p.E693D 1.57 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_04570
18 c.2079G>T - p.E693D 1.57 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_04571
18 c.2080G>A - p.E694K 6.04 0.071 0.008 Thompson et al., 2013 DNA SEQ MLH1_04572
18 c.2080G>C - p.E694Q 4.02 0.249 0.0068 Thompson et al., 2013 DNA SEQ MLH1_04573
18 c.2081A>C - p.E694A 5.77 0.01 0.0056 Thompson et al., 2013 DNA SEQ MLH1_04574
18 c.2081A>G - p.E694G 6.3 0.005 0.0067 Thompson et al., 2013 DNA SEQ MLH1_04575
18 c.2081A>T - p.E694V 8.75 0.119 0.0225 Thompson et al., 2013 DNA SEQ MLH1_04576
18 c.2082G>C - p.E694D 1.81 0.003 0.0004 Thompson et al., 2013 DNA SEQ MLH1_04577
18 c.2082G>T - p.E694D 1.81 0.003 0.0004 Thompson et al., 2013 DNA SEQ MLH1_04578
18 c.2083T>A - p.S695T 1.58 - 0.0003 Thompson et al., 2013 DNA SEQ MLH1_04579
18 c.2083T>C - p.S695P 11.28 0.047 0.0293 Thompson et al., 2013 DNA SEQ MLH1_04580
18 c.2083T>G - p.S695A 6.6 0.027 0.0082 Thompson et al., 2013 DNA SEQ MLH1_04581
18 c.2084C>G - p.S695W 6.16 0.566 0.0653 Thompson et al., 2013 DNA SEQ MLH1_04582
18 c.2084C>T - p.S695L 5.76 0.027 0.006 Thompson et al., 2013 DNA SEQ MLH1_04583
18 c.2086A>C - p.T696P 7.59 - 0.01 Thompson et al., 2013 DNA SEQ MLH1_04584
18 c.2086A>G - p.T696A 4.27 0.001 0.0027 Thompson et al., 2013 DNA SEQ MLH1_04585
18 c.2086A>T - p.T696S 1.43 0.001 0.0002 Thompson et al., 2013 DNA SEQ MLH1_04586
18 c.2087C>A - p.T696N 2.22 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_04587
18 c.2087C>G - p.T696S 1.43 0.001 0.0002 Thompson et al., 2013 DNA SEQ MLH1_04588
18 c.2087C>T - p.T696I 2.86 0.011 0.0011 Thompson et al., 2013 DNA SEQ MLH1_04589
18 c.2089C>A - p.L697I 2.65 0.004 0.0009 Thompson et al., 2013 DNA SEQ MLH1_04590
18 c.2089C>G - p.L697V 3.54 0.019 0.0019 Thompson et al., 2013 DNA SEQ MLH1_04591
18 c.2089C>T - p.L697F 2.41 0.108 0.0012 Thompson et al., 2013 DNA SEQ MLH1_04592
18 c.2090T>A - p.L697H 2.72 0.156 0.0019 Thompson et al., 2013 DNA SEQ MLH1_04593
18 c.2090T>C - p.L697P 4.98 0.001 0.0039 Thompson et al., 2013 DNA SEQ MLH1_04594
18 c.2090T>G - p.L697R 3.63 0.047 0.0023 Thompson et al., 2013 DNA SEQ MLH1_04595
18 c.2092T>A - p.S698T 3.36 0.001 0.0016 Thompson et al., 2013 DNA SEQ MLH1_04596
18 c.2092T>C - p.S698P 5.7 0.047 0.0064 Thompson et al., 2013 DNA SEQ MLH1_04597
18 c.2092T>G - p.S698A 3.47 0.016 0.0018 Thompson et al., 2013 DNA SEQ MLH1_04598
18 c.2093C>T - p.S698L 3.76 0.027 0.0023 Thompson et al., 2013 DNA SEQ MLH1_04599
18 c.2095G>A - p.G699S 1.46 0.003 0.0002 Thompson et al., 2013 DNA SEQ MLH1_04600
4501 - 4600
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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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