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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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12 c.1100C>G - p.T367S 1.69 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02401
12 c.1100C>T - p.T367I 4.72 0.001 0.0034 Thompson et al., 2013 DNA SEQ MLH1_02402
12 c.1102T>A - p.S368T 2.47 0.014 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02403
12 c.1102T>C - p.S368P 4.39 - 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02404
12 c.1102T>G - p.S368A 4.66 0.005 0.0034 Thompson et al., 2013 DNA SEQ MLH1_02405
12 c.1103C>G - p.S368W 3.98 0.398 0.0125 Thompson et al., 2013 DNA SEQ MLH1_02406
12 c.1103C>T - p.S368L 6.42 0.01 0.0071 Thompson et al., 2013 DNA SEQ MLH1_02407
12 c.1105T>A - p.S369T 1.96 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02408
12 c.1105T>C - p.S369P 4.25 0.033 0.0031 Thompson et al., 2013 DNA SEQ MLH1_02409
12 c.1105T>G - p.S369A 3.54 0.001 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02410
12 c.1106C>A - p.S369Y 5.12 0.058 0.0052 Thompson et al., 2013 DNA SEQ MLH1_02411
12 c.1106C>G - p.S369C 1.59 0.1 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02412
12 c.1106C>T - p.S369F 6.28 0.058 0.0083 Thompson et al., 2013 DNA SEQ MLH1_02413
12 c.1108T>A - p.S370T 2.85 0.001 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02414
12 c.1108T>C - p.S370P 4.89 0.001 0.0037 Thompson et al., 2013 DNA SEQ MLH1_02415
12 c.1108T>G - p.S370A 3.4 0.002 0.0016 Thompson et al., 2013 DNA SEQ MLH1_02416
12 c.1109C>A - p.S370Y 4.26 0.096 0.0041 Thompson et al., 2013 DNA SEQ MLH1_02417
12 c.1109C>G - p.S370C 3.35 0.162 0.0031 Thompson et al., 2013 DNA SEQ MLH1_02418
12 c.1109C>T - p.S370F 3.73 0.096 0.003 Thompson et al., 2013 DNA SEQ MLH1_02419
12 c.1111A>C - p.T371P 3.53 - 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02420
12 c.1111A>G - p.T371A 3.69 - 0.002 Thompson et al., 2013 DNA SEQ MLH1_02421
12 c.1111A>T - p.T371S 1.25 - 0.0002 Thompson et al., 2013 DNA SEQ MLH1_02422
12 c.1112C>A - p.T371N 1.85 0.002 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02423
12 c.1112C>G - p.T371S 1.25 - 0.0002 Thompson et al., 2013 DNA SEQ MLH1_02424
12 c.1112C>T - p.T371I 5.86 0.014 0.0059 Thompson et al., 2013 DNA SEQ MLH1_02425
12 c.1114T>A - p.S372T 4.14 0.008 0.0026 Thompson et al., 2013 DNA SEQ MLH1_02426
12 c.1114T>C - p.S372P 6.29 - 0.0065 Thompson et al., 2013 DNA SEQ MLH1_02427
12 c.1114T>G - p.S372A 3.92 0.001 0.0022 Thompson et al., 2013 DNA SEQ MLH1_02428
12 c.1115C>A - p.S372Y 5.54 0.038 0.0058 Thompson et al., 2013 DNA SEQ MLH1_02429
12 c.1115C>G - p.S372C 4.81 0.002 0.0036 Thompson et al., 2013 DNA SEQ MLH1_02430
12 c.1115C>T - p.S372F 4.33 0.038 0.0033 Thompson et al., 2013 DNA SEQ MLH1_02431
12 c.1117G>A - p.G373R 4.62 0.091 0.0048 Thompson et al., 2013 DNA SEQ MLH1_02432
12 c.1117G>C - p.G373R 4.62 0.091 0.0048 Thompson et al., 2013 DNA SEQ MLH1_02433
12 c.1118G>A - p.G373E 4.21 0.002 0.0027 Thompson et al., 2013 DNA SEQ MLH1_02434
12 c.1118G>C - p.G373A 3.97 0.021 0.0025 Thompson et al., 2013 DNA SEQ MLH1_02435
12 c.1118G>T - p.G373V 9.95 0.002 0.0184 Thompson et al., 2013 DNA SEQ MLH1_02436
12 c.1120A>C - p.S374R 34.5 0.091 0.3155 Thompson et al., 2013 DNA SEQ MLH1_02437
12 c.1120A>G - p.S374G 3.75 0.009 0.0021 Thompson et al., 2013 DNA SEQ MLH1_02438
12 c.1120A>T - p.S374C 4.36 0.25 0.0082 Thompson et al., 2013 DNA SEQ MLH1_02439
12 c.1121G>A - p.S374N 10.63 0.004 0.0215 Thompson et al., 2013 DNA SEQ MLH1_02440
12 c.1121G>C - p.S374T 2.37 0.002 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02441
12 c.1121G>T - p.S374I 10.05 0.156 0.0357 Thompson et al., 2013 DNA SEQ MLH1_02442
12 c.1122T>A - p.S374R 34.5 0.091 0.3155 Thompson et al., 2013 DNA SEQ MLH1_02443
12 c.1122T>G - p.S374R 34.5 0.091 0.3155 Thompson et al., 2013 DNA SEQ MLH1_02444
12 c.1123A>C - p.S375R 23.79 0.04 0.1376 Thompson et al., 2013 DNA SEQ MLH1_02445
12 c.1123A>G - p.S375G 2.32 - 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02446
12 c.1123A>T - p.S375C 6.67 0.186 0.0163 Thompson et al., 2013 DNA SEQ MLH1_02447
12 c.1124G>A - p.S375N 3.72 0.027 0.0022 Thompson et al., 2013 DNA SEQ MLH1_02448
12 c.1124G>C - p.S375T 1.86 0.001 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02449
12 c.1124G>T - p.S375I 11.4 0.006 0.0253 Thompson et al., 2013 DNA SEQ MLH1_02450
12 c.1125T>A - p.S375R 23.79 0.04 0.1376 Thompson et al., 2013 DNA SEQ MLH1_02451
12 c.1125T>G - p.S375R 23.79 0.04 0.1376 Thompson et al., 2013 DNA SEQ MLH1_02452
12 c.1126G>A - p.D376N 2.06 0.041 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02453
12 c.1126G>C - p.D376H 3.75 0.22 0.0052 Thompson et al., 2013 DNA SEQ MLH1_02454
12 c.1126G>T - p.D376Y 5.63 0.255 0.0149 Thompson et al., 2013 DNA SEQ MLH1_02455
12 c.1127A>C - p.D376A 4.25 0.006 0.0028 Thompson et al., 2013 DNA SEQ MLH1_02456
12 c.1127A>G - p.D376G 4.46 0.041 0.0036 Thompson et al., 2013 DNA SEQ MLH1_02457
12 c.1127A>T - p.D376V 5.38 0.041 0.0055 Thompson et al., 2013 DNA SEQ MLH1_02458
12 c.1128T>A - p.D376E 2.77 0.002 0.001 Thompson et al., 2013 DNA SEQ MLH1_02459
12 c.1128T>G - p.D376E 2.77 0.002 0.001 Thompson et al., 2013 DNA SEQ MLH1_02460
12 c.1129A>C - p.K377Q 2.93 0.017 0.0012 Thompson et al., 2013 DNA SEQ MLH1_02461
12 c.1129A>G - p.K377E 6.11 0.073 0.0083 Thompson et al., 2013 DNA SEQ MLH1_02462
12 c.1130A>C - p.K377T 8.8 0.104 0.0215 Thompson et al., 2013 DNA SEQ MLH1_02463
12 c.1130A>G - p.K377R 2.15 0.003 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02464
12 c.1130A>T - p.K377M 14.15 0.277 0.1187 Thompson et al., 2013 DNA SEQ MLH1_02465
12 c.1131G>C - p.K377N 4.21 0.017 0.0028 Thompson et al., 2013 DNA SEQ MLH1_02466
12 c.1131G>T - p.K377N 4.21 0.017 0.0028 Thompson et al., 2013 DNA SEQ MLH1_02467
12 c.1132G>A - p.V378I 6.47 0.004 0.0071 Thompson et al., 2013 DNA SEQ MLH1_02468
12 c.1132G>C - p.V378L 10.97 0.014 0.024 Thompson et al., 2013 DNA SEQ MLH1_02469
12 c.1132G>T - p.V378F 10.99 0.297 0.0763 Thompson et al., 2013 DNA SEQ MLH1_02470
12 c.1133T>A - p.V378D 36.69 0.412 0.6754 Thompson et al., 2013 DNA SEQ MLH1_02471
12 c.1133T>C - p.V378A 13.58 0.042 0.0431 Thompson et al., 2013 DNA SEQ MLH1_02472
12 c.1133T>G - p.V378G 10.23 0.235 0.0512 Thompson et al., 2013 DNA SEQ MLH1_02473
12 c.1135T>A - p.Y379N 8.25 0.376 0.0569 Thompson et al., 2013 DNA SEQ MLH1_02474
12 c.1135T>C - p.Y379H 13.18 0.024 0.0375 Thompson et al., 2013 DNA SEQ MLH1_02475
12 c.1135T>G - p.Y379D 33.63 0.079 0.2925 Thompson et al., 2013 DNA SEQ MLH1_02476
12 c.1136A>C - p.Y379S 6.81 0.024 0.0086 Thompson et al., 2013 DNA SEQ MLH1_02477
12 c.1136A>G - p.Y379C 20.19 0.522 0.4615 Thompson et al., 2013 DNA SEQ MLH1_02478
12 c.1136A>T - p.Y379F 20.69 0.024 0.0979 Thompson et al., 2013 DNA SEQ MLH1_02479
12 c.1138G>A - p.A380T 11 0.798 0.4116 Thompson et al., 2013 DNA SEQ MLH1_02480
12 c.1138G>C - p.A380P 12.98 0.092 0.0479 Thompson et al., 2013 DNA SEQ MLH1_02481
12 c.1138G>T - p.A380S 6.91 0.728 0.153 Thompson et al., 2013 DNA SEQ MLH1_02482
12 c.1139C>A - p.A380D 7.07 0.055 0.0107 Thompson et al., 2013 DNA SEQ MLH1_02483
12 c.1139C>G - p.A380G 7.26 0.728 0.1682 Thompson et al., 2013 DNA SEQ MLH1_02484
12 c.1139C>T - p.A380V 14.14 0.879 0.6359 Thompson et al., 2013 DNA SEQ MLH1_02485
12 c.1141C>A - p.H381N 8.03 0.011 0.0118 Thompson et al., 2013 DNA SEQ MLH1_02486
12 c.1141C>G - p.H381D 22.21 0.067 0.1328 Thompson et al., 2013 DNA SEQ MLH1_02487
12 c.1141C>T - p.H381Y 8.35 0.001 0.0124 Thompson et al., 2013 DNA SEQ MLH1_02488
12 c.1142A>C - p.H381P 22.73 0.179 0.2064 Thompson et al., 2013 DNA SEQ MLH1_02489
12 c.1142A>G - p.H381R 23.52 0.003 0.1172 Thompson et al., 2013 DNA SEQ MLH1_02490
12 c.1142A>T - p.H381L 21.82 0.067 0.1282 Thompson et al., 2013 DNA SEQ MLH1_02491
12 c.1143C>A - p.H381Q 6.12 0.006 0.0063 Thompson et al., 2013 DNA SEQ MLH1_02492
12 c.1143C>G - p.H381Q 6.12 0.006 0.0063 Thompson et al., 2013 DNA SEQ MLH1_02493
12 c.1144C>A - p.Q382K 14.81 0.013 0.0463 Thompson et al., 2013 DNA SEQ MLH1_02494
12 c.1144C>G - p.Q382E 13.18 0.022 0.0372 Thompson et al., 2013 DNA SEQ MLH1_02495
12 c.1145A>C - p.Q382P 17.81 0.444 0.3162 Thompson et al., 2013 DNA SEQ MLH1_02496
12 c.1145A>G - p.Q382R 22.8 0.208 0.2286 Thompson et al., 2013 DNA SEQ MLH1_02497
12 c.1145A>T - p.Q382L 24.78 0.325 0.3708 Thompson et al., 2013 DNA SEQ MLH1_02498
12 c.1146G>C - p.Q382H 4.22 0.019 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02499
12 c.1146G>T - p.Q382H 4.22 0.019 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02500
2401 - 2500
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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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