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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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4 c.415C>T - p.P139S 4.63 0.404 0.018 Thompson et al., 2013 DNA SEQ MLH1_00418
4 c.416C>A - p.P139H 11.49 0.98 0.6264 Thompson et al., 2013 DNA SEQ MLH1_00419
4 c.416C>G - p.P139R 28 0.98 0.9268 Thompson et al., 2013 DNA SEQ MLH1_00420
4 c.416C>T - p.P139L 5.12 0.404 0.0225 Thompson et al., 2013 DNA SEQ MLH1_00421
4 c.418A>C - p.K140Q 11.39 0.986 0.6278 Thompson et al., 2013 DNA SEQ MLH1_00422
4 c.418A>G - p.K140E 21.03 0.981 0.8691 Thompson et al., 2013 DNA SEQ MLH1_00423
4 c.419A>C - p.K140T 24.57 0.562 0.6134 Thompson et al., 2013 DNA SEQ MLH1_00424
4 c.419A>G - p.K140R 4.25 0.724 0.0557 Thompson et al., 2013 DNA SEQ MLH1_00425
4 c.419A>T - p.K140I 27.32 0.977 0.922 Thompson et al., 2013 DNA SEQ MLH1_00426
4 c.420A>C - p.K140N 13.1 0.986 0.6985 Thompson et al., 2013 DNA SEQ MLH1_00427
4 c.420A>T - p.K140N 13.1 0.986 0.6985 Thompson et al., 2013 DNA SEQ MLH1_00428
4 c.421C>A - p.P141T 17.77 0.992 0.826 Thompson et al., 2013 DNA SEQ MLH1_00429
4 c.421C>G - p.P141A 20 0.993 0.8618 Thompson et al., 2013 DNA SEQ MLH1_00430
4 c.421C>T - p.P141S 17.5 0.851 0.7155 Thompson et al., 2013 DNA SEQ MLH1_00431
4 c.422C>A - p.P141Q 17.67 0.998 0.8279 Thompson et al., 2013 DNA SEQ MLH1_00432
4 c.422C>G - p.P141R 41.48 0.954 0.9651 Thompson et al., 2013 DNA SEQ MLH1_00433
4 c.422C>T - p.P141L 26.92 0.997 0.9257 Thompson et al., 2013 DNA SEQ MLH1_00434
4 c.424T>A - p.C142S 9.21 0.979 0.5026 Thompson et al., 2013 DNA SEQ MLH1_00435
4 c.424T>C - p.C142R 43.68 0.997 0.9739 Thompson et al., 2013 DNA SEQ MLH1_00436
4 c.424T>G - p.C142G 13.28 0.996 0.7138 Thompson et al., 2013 DNA SEQ MLH1_00437
4 c.425G>A - p.C142Y 17 0.995 0.8131 Thompson et al., 2013 DNA SEQ MLH1_00438
4 c.425G>C - p.C142S 9.21 0.979 0.5026 Thompson et al., 2013 DNA SEQ MLH1_00439
4 c.425G>T - p.C142F 19.43 0.997 0.8559 Thompson et al., 2013 DNA SEQ MLH1_00440
4 c.426T>G - p.C142W 28.15 0.999 0.9329 Thompson et al., 2013 DNA SEQ MLH1_00441
4 c.427G>A - p.A143T 33.24 1 0.9532 Thompson et al., 2013 DNA SEQ MLH1_00442
4 c.427G>C - p.A143P 38.15 1 0.9653 Thompson et al., 2013 DNA SEQ MLH1_00443
4 c.427G>T - p.A143S 23.39 1 0.9017 Thompson et al., 2013 DNA SEQ MLH1_00444
4 c.428C>A - p.A143D 43.15 1 0.9736 Thompson et al., 2013 DNA SEQ MLH1_00445
4 c.428C>G - p.A143G 22.29 1 0.8915 Thompson et al., 2013 DNA SEQ MLH1_00446
4 c.428C>T - p.A143V 35.49 1 0.9594 Thompson et al., 2013 DNA SEQ MLH1_00447
4 c.430G>A - p.G144S 7.5 0.999 0.4084 Thompson et al., 2013 DNA SEQ MLH1_00448
4 c.430G>C - p.G144R 36.52 1 0.9618 Thompson et al., 2013 DNA SEQ MLH1_00449
4 c.430G>T - p.G144C 19.13 1 0.8531 Thompson et al., 2013 DNA SEQ MLH1_00450
4 c.431G>A - p.G144D 35.86 1 0.9603 Thompson et al., 2013 DNA SEQ MLH1_00451
4 c.431G>C - p.G144A 22.05 0.999 0.8887 Thompson et al., 2013 DNA SEQ MLH1_00452
4 c.431G>T - p.G144V 29.36 0.983 0.9346 Thompson et al., 2013 DNA SEQ MLH1_00453
4 c.433A>C - p.N145H 14.29 0.997 0.7473 Thompson et al., 2013 DNA SEQ MLH1_00454
4 c.433A>G - p.N145D 29.27 0.991 0.9362 Thompson et al., 2013 DNA SEQ MLH1_00455
4 c.433A>T - p.N145Y 20.2 0.995 0.8655 Thompson et al., 2013 DNA SEQ MLH1_00456
4 c.434A>C - p.N145T 16.73 0.739 0.585 Thompson et al., 2013 DNA SEQ MLH1_00457
4 c.434A>G - p.N145S 13.4 0.974 0.6986 Thompson et al., 2013 DNA SEQ MLH1_00458
4 c.434A>T - p.N145I 22.05 0.99 0.8849 Thompson et al., 2013 DNA SEQ MLH1_00459
4 c.435T>A - p.N145K 25.31 0.986 0.9117 Thompson et al., 2013 DNA SEQ MLH1_00460
4 c.435T>G - p.N145K 25.31 0.986 0.9117 Thompson et al., 2013 DNA SEQ MLH1_00461
4 c.436C>A - p.Q146K 2.67 0.096 0.0014 Thompson et al., 2013 DNA SEQ MLH1_00462
4 c.436C>G - p.Q146E 5.88 0.746 0.1191 Thompson et al., 2013 DNA SEQ MLH1_00463
4 c.437A>C - p.Q146P 15.06 0.93 0.7147 Thompson et al., 2013 DNA SEQ MLH1_00464
4 c.437A>G - p.Q146R 3.13 0.4 0.0073 Thompson et al., 2013 DNA SEQ MLH1_00465
4 c.437A>T - p.Q146L 10.18 0.813 0.3848 Thompson et al., 2013 DNA SEQ MLH1_00466
4 c.438A>C - p.Q146H 3.16 0.935 0.0688 Thompson et al., 2013 DNA SEQ MLH1_00467
4 c.438A>T - p.Q146H 3.16 0.935 0.0688 Thompson et al., 2013 DNA SEQ MLH1_00468
4 c.439G>A - p.G147R 36.52 1 0.9618 Thompson et al., 2013 DNA SEQ MLH1_00469
4 c.439G>C - p.G147R 36.52 1 0.9618 Thompson et al., 2013 DNA SEQ MLH1_00470
4 c.439G>T - p.G147W 22.39 1 0.8925 Thompson et al., 2013 DNA SEQ MLH1_00471
4 c.440G>A - p.G147E 35.36 1 0.9591 Thompson et al., 2013 DNA SEQ MLH1_00472
4 c.440G>C - p.G147A 22.05 1 0.8891 Thompson et al., 2013 DNA SEQ MLH1_00473
4 c.440G>T - p.G147V 29.36 1 0.9389 Thompson et al., 2013 DNA SEQ MLH1_00474
4 c.442A>C - p.T148P 43.72 1 0.9743 Thompson et al., 2013 DNA SEQ MLH1_00475
4 c.442A>G - p.T148A 37.99 1 0.965 Thompson et al., 2013 DNA SEQ MLH1_00476
4 c.442A>T - p.T148S 11.33 1 0.6388 Thompson et al., 2013 DNA SEQ MLH1_00960
4 c.443C>A - p.T148N 20.18 1 0.8677 Thompson et al., 2013 DNA SEQ MLH1_00961
4 c.443C>G - p.T148S 11.33 1 0.6388 Thompson et al., 2013 DNA SEQ MLH1_00962
4 c.443C>T - p.T148I 33.48 1 0.9539 Thompson et al., 2013 DNA SEQ MLH1_00963
4 c.445C>A - p.Q149K 23.24 0.596 0.6178 Thompson et al., 2013 DNA SEQ MLH1_00964
4 c.445C>G - p.Q149E 23.5 0.596 0.6237 Thompson et al., 2013 DNA SEQ MLH1_00965
4 c.446A>C - p.Q149P 32.42 0.86 0.9138 Thompson et al., 2013 DNA SEQ MLH1_00966
4 c.446A>G - p.Q149R 23.54 0.73 0.7465 Thompson et al., 2013 DNA SEQ MLH1_00967
4 c.446A>T - p.Q149L 4.11 0.059 0.0032 Thompson et al., 2013 DNA SEQ MLH1_00968
4 c.447G>C - p.Q149H 11.76 0.83 0.4827 Thompson et al., 2013 DNA SEQ MLH1_00969
4 c.447G>T - p.Q149H 11.76 0.83 0.4827 Thompson et al., 2013 DNA SEQ MLH1_00970
4 c.448A>C - p.I150L 10.44 0.985 0.5795 Thompson et al., 2013 DNA SEQ MLH1_00971
4 c.448A>G - p.I150V 10.65 0.927 0.5297 Thompson et al., 2013 DNA SEQ MLH1_00972
4 c.448A>T - p.I150F 10.65 0.999 0.6048 Thompson et al., 2013 DNA SEQ MLH1_00973
4 c.449T>A - p.I150N 17.95 0.999 0.8335 Thompson et al., 2013 DNA SEQ MLH1_00974
4 c.449T>C - p.I150T 19.6 0.998 0.8589 Thompson et al., 2013 DNA SEQ MLH1_00975
4 c.449T>G - p.I150S 20.83 0.999 0.8753 Thompson et al., 2013 DNA SEQ MLH1_00976
4 c.450C>G - p.I150M 15.7 0.998 0.7862 Thompson et al., 2013 DNA SEQ MLH1_00977
4 c.451A>C - p.T151P 13.7 0.779 0.515 Thompson et al., 2013 DNA SEQ MLH1_00978
4 c.451A>G - p.T151A 11.93 0.35 0.1109 Thompson et al., 2013 DNA SEQ MLH1_00979
4 c.451A>T - p.T151S 2.76 0.057 0.0013 Thompson et al., 2013 DNA SEQ MLH1_00980
4 c.452C>A - p.T151K 27.23 0.72 0.7971 Thompson et al., 2013 DNA SEQ MLH1_00981
4 c.452C>G - p.T151R 31.33 0.854 0.9053 Thompson et al., 2013 DNA SEQ MLH1_00982
4 c.452C>T - p.T151M 9.02 0.201 0.0339 Thompson et al., 2013 DNA SEQ MLH1_00983
6 c.454G>A - p.V152M 10.25 0.999 0.5839 Thompson et al., 2013 DNA SEQ MLH1_00984
6 c.454G>C - p.V152L 6.1 0.981 0.2857 Thompson et al., 2013 DNA SEQ MLH1_00985
6 c.454G>T - p.V152L 6.1 0.981 0.2857 Thompson et al., 2013 DNA SEQ MLH1_00986
6 c.455T>A - p.V152E 32.71 0.999 0.9513 Thompson et al., 2013 DNA SEQ MLH1_00987
6 c.455T>C - p.V152A 7.7 0.995 0.4188 Thompson et al., 2013 DNA SEQ MLH1_00988
6 c.455T>G - p.V152G 9.53 0.998 0.5422 Thompson et al., 2013 DNA SEQ MLH1_00989
6 c.457G>A - p.E153K 19.98 0.999 0.8646 Thompson et al., 2013 DNA SEQ MLH1_00990
6 c.457G>C - p.E153Q 13.2 0.999 0.7136 Thompson et al., 2013 DNA SEQ MLH1_00991
6 c.458A>C - p.E153A 24.45 0.999 0.9099 Thompson et al., 2013 DNA SEQ MLH1_00992
6 c.458A>G - p.E153G 28.23 0.999 0.9333 Thompson et al., 2013 DNA SEQ MLH1_00993
6 c.458A>T - p.E153V 31.34 0.999 0.9466 Thompson et al., 2013 DNA SEQ MLH1_00994
6 c.459G>C - p.E153D 13.31 0.978 0.6989 Thompson et al., 2013 DNA SEQ MLH1_00995
6 c.459G>T - p.E153D 13.31 0.978 0.6989 Thompson et al., 2013 DNA SEQ MLH1_00996
6 c.460G>A - p.D154N 13.97 0.852 0.6024 Thompson et al., 2013 DNA SEQ MLH1_00997
6 c.460G>C - p.D154H 20.32 0.997 0.868 Thompson et al., 2013 DNA SEQ MLH1_00998
6 c.460G>T - p.D154Y 21.06 0.997 0.877 Thompson et al., 2013 DNA SEQ MLH1_00999
6 c.461A>C - p.D154A 29.51 0.995 0.9383 Thompson et al., 2013 DNA SEQ MLH1_01000
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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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