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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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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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1 c.98A>T - p.K33I 25.96 1 0.9207 Thompson et al., 2013 DNA SEQ MLH1_00561
1 c.99A>C - p.K33N 14.55 1 0.7573 Thompson et al., 2013 DNA SEQ MLH1_00562
1 c.99A>T - p.K33N 14.55 1 0.7573 Thompson et al., 2013 DNA SEQ MLH1_00563
1 c.100G>A - p.E34K 19.98 1 0.8651 Thompson et al., 2013 DNA SEQ MLH1_00564
1 c.100G>C - p.E34Q 13.2 1 0.7144 Thompson et al., 2013 DNA SEQ MLH1_00565
1 c.101A>C - p.E34A 24.45 1 0.9102 Thompson et al., 2013 DNA SEQ MLH1_00566
1 c.101A>G - p.E34G 28.23 1 0.9336 Thompson et al., 2013 DNA SEQ MLH1_00567
1 c.101A>T - p.E34V 31.34 1 0.9468 Thompson et al., 2013 DNA SEQ MLH1_00568
1 c.102G>C - p.E34D 13.31 1 0.7183 Thompson et al., 2013 DNA SEQ MLH1_00569
1 c.102G>T - p.E34D 13.31 1 0.7183 Thompson et al., 2013 DNA SEQ MLH1_00570
1 c.103A>C - p.M35L 13.49 0.053 0.0445 Thompson et al., 2013 DNA SEQ MLH1_00571
1 c.103A>G - p.M35V 30.01 0.615 0.7579 Thompson et al., 2013 DNA SEQ MLH1_00572
1 c.103A>T - p.M35L 13.49 0.053 0.0445 Thompson et al., 2013 DNA SEQ MLH1_00573
1 c.104T>A - p.M35K 27.72 0.927 0.9081 Thompson et al., 2013 DNA SEQ MLH1_00574
1 c.104T>C - p.M35T 25.97 0.927 0.8949 Thompson et al., 2013 DNA SEQ MLH1_00575
1 c.104T>G - p.M35R 32.16 0.946 0.9375 Thompson et al., 2013 DNA SEQ MLH1_00576
1 c.105G>A - p.M35I 21.99 0.656 0.648 Thompson et al., 2013 DNA SEQ MLH1_00577
1 c.105G>C - p.M35I 21.99 0.656 0.648 Thompson et al., 2013 DNA SEQ MLH1_00578
1 c.105G>T - p.M35I 21.99 0.656 0.648 Thompson et al., 2013 DNA SEQ MLH1_00579
1 c.106A>C - p.I36L 2.93 0.035 0.0013 Thompson et al., 2013 DNA SEQ MLH1_00580
1 c.106A>G - p.I36V 9.58 0.185 0.0362 Thompson et al., 2013 DNA SEQ MLH1_00581
1 c.106A>T - p.I36F 7.78 0.788 0.234 Thompson et al., 2013 DNA SEQ MLH1_00582
1 c.107T>A - p.I36N 22.57 0.788 0.7741 Thompson et al., 2013 DNA SEQ MLH1_00583
1 c.107T>C - p.I36T 16.72 0.044 0.0679 Thompson et al., 2013 DNA SEQ MLH1_00584
1 c.107T>G - p.I36S 21.37 0.52 0.4915 Thompson et al., 2013 DNA SEQ MLH1_00585
1 c.108T>G - p.I36M 6.35 0.1 0.0102 Thompson et al., 2013 DNA SEQ MLH1_00586
1 c.109G>A - p.E37K 19.98 1 0.8651 Thompson et al., 2013 DNA SEQ MLH1_00587
1 c.109G>C - p.E37Q 13.2 1 0.7144 Thompson et al., 2013 DNA SEQ MLH1_00588
1 c.110A>C - p.E37A 24.45 1 0.9102 Thompson et al., 2013 DNA SEQ MLH1_00589
1 c.110A>G - p.E37G 28.23 1 0.9336 Thompson et al., 2013 DNA SEQ MLH1_00590
1 c.110A>T - p.E37V 31.34 1 0.9468 Thompson et al., 2013 DNA SEQ MLH1_00591
1 c.111G>C - p.E37D 13.31 1 0.7183 Thompson et al., 2013 DNA SEQ MLH1_00592
1 c.111G>T - p.E37D 13.31 1 0.7183 Thompson et al., 2013 DNA SEQ MLH1_00593
1 c.112A>C - p.N38H 14.29 1 0.7497 Thompson et al., 2013 DNA SEQ MLH1_00594
1 c.112A>G - p.N38D 29.27 1 0.9385 Thompson et al., 2013 DNA SEQ MLH1_00595
1 c.112A>T - p.N38Y 20.2 1 0.8679 Thompson et al., 2013 DNA SEQ MLH1_00596
1 c.113A>C - p.N38T 16.73 1 0.8108 Thompson et al., 2013 DNA SEQ MLH1_00597
1 c.113A>G - p.N38S 13.4 1 0.7214 Thompson et al., 2013 DNA SEQ MLH1_00598
1 c.113A>T - p.N38I 22.05 1 0.8891 Thompson et al., 2013 DNA SEQ MLH1_00599
1 c.114C>A - p.N38K 25.31 1 0.9164 Thompson et al., 2013 DNA SEQ MLH1_00600
1 c.114C>G - p.N38K 25.31 1 0.9164 Thompson et al., 2013 DNA SEQ MLH1_00601
1 c.115T>A - p.C39S 14.04 0.125 0.0647 Thompson et al., 2013 DNA SEQ MLH1_00602
1 c.115T>C - p.C39R 34.86 0.978 0.9538 Thompson et al., 2013 DNA SEQ MLH1_00603
1 c.115T>G - p.C39G 15.41 0.914 0.7114 Thompson et al., 2013 DNA SEQ MLH1_00604
1 c.116G>A - p.C39Y 21.23 0.983 0.8725 Thompson et al., 2013 DNA SEQ MLH1_00605
1 c.116G>C - p.C39S 14.04 0.125 0.0647 Thompson et al., 2013 DNA SEQ MLH1_00606
1 c.116G>T - p.C39F 21.32 0.987 0.8754 Thompson et al., 2013 DNA SEQ MLH1_00607
2 c.117T>G - p.C39W 32.95 0.99 0.9503 Thompson et al., 2013 DNA SEQ MLH1_00608
2 c.118T>A - p.L40I 15.46 0.967 0.7568 Thompson et al., 2013 DNA SEQ MLH1_00609
2 c.118T>G - p.L40V 25.8 0.991 0.9168 Thompson et al., 2013 DNA SEQ MLH1_00610
2 c.119T>C - p.L40S 22.76 0.999 0.8956 Thompson et al., 2013 DNA SEQ MLH1_00611
2 c.120A>C - p.L40F 12.59 0.999 0.6911 Thompson et al., 2013 DNA SEQ MLH1_00612
2 c.120A>T - p.L40F 12.59 0.999 0.6911 Thompson et al., 2013 DNA SEQ MLH1_00613
2 c.121G>A - p.D41N 13.97 1 0.74 Thompson et al., 2013 DNA SEQ MLH1_00614
2 c.121G>C - p.D41H 20.32 1 0.8695 Thompson et al., 2013 DNA SEQ MLH1_00615
2 c.121G>T - p.D41Y 21.06 1 0.8784 Thompson et al., 2013 DNA SEQ MLH1_00616
2 c.122A>C - p.D41A 29.51 1 0.9395 Thompson et al., 2013 DNA SEQ MLH1_00617
2 c.122A>G - p.D41G 20.85 1 0.876 Thompson et al., 2013 DNA SEQ MLH1_00618
2 c.122A>T - p.D41V 22.25 1 0.8911 Thompson et al., 2013 DNA SEQ MLH1_00619
2 c.123T>A - p.D41E 23.98 1 0.9066 Thompson et al., 2013 DNA SEQ MLH1_00620
2 c.123T>G - p.D41E 23.98 1 0.9066 Thompson et al., 2013 DNA SEQ MLH1_00621
2 c.124G>A - p.A42T 33.24 1 0.9532 Thompson et al., 2013 DNA SEQ MLH1_00622
2 c.124G>C - p.A42P 38.15 1 0.9653 Thompson et al., 2013 DNA SEQ MLH1_00623
2 c.124G>T - p.A42S 23.39 1 0.9017 Thompson et al., 2013 DNA SEQ MLH1_00624
2 c.125C>A - p.A42E 37.64 1 0.9643 Thompson et al., 2013 DNA SEQ MLH1_00625
2 c.125C>G - p.A42G 22.29 1 0.8915 Thompson et al., 2013 DNA SEQ MLH1_00626
2 c.125C>T - p.A42V 35.49 1 0.9594 Thompson et al., 2013 DNA SEQ MLH1_00627
2 c.127A>C - p.K43Q 3.65 0.619 0.026 Thompson et al., 2013 DNA SEQ MLH1_00628
2 c.127A>G - p.K43E 6.66 0.809 0.1901 Thompson et al., 2013 DNA SEQ MLH1_00629
2 c.128A>C - p.K43T 12.43 0.946 0.6343 Thompson et al., 2013 DNA SEQ MLH1_00630
2 c.128A>G - p.K43R 3.56 0.241 0.005 Thompson et al., 2013 DNA SEQ MLH1_00631
2 c.128A>T - p.K43I 18.65 0.975 0.8313 Thompson et al., 2013 DNA SEQ MLH1_00632
2 c.129A>C - p.K43N 7.39 0.928 0.3304 Thompson et al., 2013 DNA SEQ MLH1_00633
2 c.129A>T - p.K43N 7.39 0.928 0.3304 Thompson et al., 2013 DNA SEQ MLH1_00634
2 c.130T>A - p.S44T 8.98 0.903 0.4084 Thompson et al., 2013 DNA SEQ MLH1_00635
2 c.130T>C - p.S44P 19.98 0.975 0.8521 Thompson et al., 2013 DNA SEQ MLH1_00636
2 c.130T>G - p.S44A 8.19 0.317 0.0441 Thompson et al., 2013 DNA SEQ MLH1_00637
2 c.131C>A - p.S44Y 19.74 0.989 0.8562 Thompson et al., 2013 DNA SEQ MLH1_00638
2 c.131C>G - p.S44C 8.83 0.989 0.4894 Thompson et al., 2013 DNA SEQ MLH1_00639
2 c.131C>T - p.S44F 17.34 0.989 0.816 Thompson et al., 2013 DNA SEQ MLH1_00640
2 c.133A>C - p.T45P 31.73 0.914 0.927 Thompson et al., 2013 DNA SEQ MLH1_00641
2 c.133A>G - p.T45A 25.56 0.741 0.7881 Thompson et al., 2013 DNA SEQ MLH1_00642
2 c.133A>T - p.T45S 2.94 0.153 0.0022 Thompson et al., 2013 DNA SEQ MLH1_00643
2 c.134C>A - p.T45K 27.49 0.241 0.3428 Thompson et al., 2013 DNA SEQ MLH1_00644
2 c.134C>G - p.T45R 33.01 0.914 0.9329 Thompson et al., 2013 DNA SEQ MLH1_00645
2 c.134C>T - p.T45I 34.34 0.946 0.9457 Thompson et al., 2013 DNA SEQ MLH1_00646
2 c.136A>C - p.S46R 23.76 0.327 0.3508 Thompson et al., 2013 DNA SEQ MLH1_00647
2 c.136A>G - p.S46G 3.31 0.157 0.003 Thompson et al., 2013 DNA SEQ MLH1_00648
2 c.136A>T - p.S46C 4.91 0.617 0.0493 Thompson et al., 2013 DNA SEQ MLH1_00649
2 c.137G>A - p.S46N 3.86 0.006 0.0022 Thompson et al., 2013 DNA SEQ MLH1_00650
2 c.137G>C - p.S46T 3.05 0.02 0.0014 Thompson et al., 2013 DNA SEQ MLH1_00651
2 c.137G>T - p.S46I 9.1 0.376 0.0701 Thompson et al., 2013 DNA SEQ MLH1_00652
2 c.138T>A - p.S46R 23.76 0.327 0.3508 Thompson et al., 2013 DNA SEQ MLH1_00653
2 c.138T>G - p.S46R 23.76 0.327 0.3508 Thompson et al., 2013 DNA SEQ MLH1_00654
2 c.139A>C - p.I47L 10.44 0.985 0.5795 Thompson et al., 2013 DNA SEQ MLH1_00655
2 c.139A>G - p.I47V 10.65 0.927 0.5297 Thompson et al., 2013 DNA SEQ MLH1_00656
2 c.139A>T - p.I47F 10.65 0.999 0.6048 Thompson et al., 2013 DNA SEQ MLH1_00657
2 c.140T>A - p.I47N 17.95 0.999 0.8335 Thompson et al., 2013 DNA SEQ MLH1_00658
2 c.140T>C - p.I47T 19.6 0.998 0.8589 Thompson et al., 2013 DNA SEQ MLH1_00659
2 c.140T>G - p.I47S 20.83 0.999 0.8753 Thompson et al., 2013 DNA SEQ MLH1_00117
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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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