View unique variants   Search unique variants View all contents   Full database search Variant listing based on patient origin Database statistics   Switch gene
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

Unhide all columns | Hide Specific Columns | Hide all columns
About this overview [Show]

8948 entries
entries per page

Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
RNA change Hide RNA change column Descending
Ascending
Protein Hide Protein column Descending
Ascending
Custom PP2.1 score Hide Custom PP2.1 score column Descending
Ascending
MAPP score Hide MAPP score column Descending
Ascending
MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Template Hide Template column Descending
Ascending
Technique Hide Technique column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
5 c.3370A>T - p.N1124Y 0.016 6.72 0.0081 Thompson et al., 2013 DNA SEQ MSH6_07401
5 c.3371A>C - p.N1124T 0.009 5.40 0.0048 Thompson et al., 2013 DNA SEQ MSH6_07402
5 c.3371A>G - p.N1124S 0.002 2.77 0.0010 Thompson et al., 2013 DNA SEQ MSH6_07403
5 c.3371A>T - p.N1124I 0.171 6.79 0.0159 Thompson et al., 2013 DNA SEQ MSH6_07404
5 c.3372T>A - p.N1124K 0.066 3.47 0.0022 Thompson et al., 2013 DNA SEQ MSH6_07405
5 c.3372T>G - p.N1124K 0.066 3.47 0.0022 Thompson et al., 2013 DNA SEQ MSH6_07406
5 c.3373G>A - p.G1125S 0.029 1.34 0.0002 Thompson et al., 2013 DNA SEQ MSH6_07407
5 c.3373G>C - p.G1125R 0.667 5.20 0.0681 Thompson et al., 2013 DNA SEQ MSH6_07408
5 c.3373G>T - p.G1125C 0.869 3.95 0.0847 Thompson et al., 2013 DNA SEQ MSH6_07409
5 c.3374G>A - p.G1125D 0.092 4.26 0.0040 Thompson et al., 2013 DNA SEQ MSH6_07410
5 c.3374G>C - p.G1125A 0.317 4.27 0.0104 Thompson et al., 2013 DNA SEQ MSH6_07411
5 c.3374G>T - p.G1125V 0.547 5.95 0.0562 Thompson et al., 2013 DNA SEQ MSH6_07412
5 c.3376A>C - p.K1126Q 0.039 1.41 0.0003 Thompson et al., 2013 DNA SEQ MSH6_07413
5 c.3376A>G - p.K1126E 0.112 2.28 0.0011 Thompson et al., 2013 DNA SEQ MSH6_07414
5 c.3377A>C - p.K1126T 0.004 4.17 0.0026 Thompson et al., 2013 DNA SEQ MSH6_07415
5 c.3377A>G - p.K1126R 0.039 3.09 0.0015 Thompson et al., 2013 DNA SEQ MSH6_07416
5 c.3377A>T - p.K1126I 0.384 4.48 0.0154 Thompson et al., 2013 DNA SEQ MSH6_07417
5 c.3378A>C - p.K1126N 0.008 1.39 0.0002 Thompson et al., 2013 DNA SEQ MSH6_07418
5 c.3378A>T - p.K1126N 0.008 1.39 0.0002 Thompson et al., 2013 DNA SEQ MSH6_07419
5 c.3379G>A - p.A1127T 0.140 10.22 0.0346 Thompson et al., 2013 DNA SEQ MSH6_07420
5 c.3379G>C - p.A1127P 0.024 14.75 0.0479 Thompson et al., 2013 DNA SEQ MSH6_07421
5 c.3379G>T - p.A1127S 0.074 4.73 0.0047 Thompson et al., 2013 DNA SEQ MSH6_07422
5 c.3380C>A - p.A1127D 0.417 37.95 0.6965 Thompson et al., 2013 DNA SEQ MSH6_07423
5 c.3380C>G - p.A1127G 0.074 5.56 0.0068 Thompson et al., 2013 DNA SEQ MSH6_07424
5 c.3380C>T - p.A1127V 0.326 14.26 0.1445 Thompson et al., 2013 DNA SEQ MSH6_07425
5 c.3382T>A - p.Y1128N 0.001 1.77 0.0004 Thompson et al., 2013 DNA SEQ MSH6_07426
5 c.3382T>C - p.Y1128H 0.001 2.17 0.0006 Thompson et al., 2013 DNA SEQ MSH6_07427
5 c.3382T>G - p.Y1128D 0.006 4.48 0.0031 Thompson et al., 2013 DNA SEQ MSH6_07428
5 c.3383A>C - p.Y1128S 0.000 1.32 0.0002 Thompson et al., 2013 DNA SEQ MSH6_07429
5 c.3383A>G - p.Y1128C 0.014 3.52 0.0019 Thompson et al., 2013 DNA SEQ MSH6_07430
5 c.3383A>T - p.Y1128F 0.008 3.72 0.0021 Thompson et al., 2013 DNA SEQ MSH6_07431
5 c.3385T>A - p.C1129S 0.051 6.86 0.0098 Thompson et al., 2013 DNA SEQ MSH6_07432
5 c.3385T>C - p.C1129R 0.752 35.88 0.8938 Thompson et al., 2013 DNA SEQ MSH6_07433
5 c.3385T>G - p.C1129G 0.408 7.55 0.0535 Thompson et al., 2013 DNA SEQ MSH6_07434
5 c.3386G>A - p.C1129Y 0.520 10.45 0.1600 Thompson et al., 2013 DNA SEQ MSH6_07435
5 c.3386G>C - p.C1129S 0.051 6.86 0.0098 Thompson et al., 2013 DNA SEQ MSH6_07436
5 c.3386G>T - p.C1129F 0.029 11.67 0.0293 Thompson et al., 2013 DNA SEQ MSH6_07437
5 c.3387T>G - p.C1129W 0.910 16.61 0.7418 Thompson et al., 2013 DNA SEQ MSH6_07438
5 c.3388G>A - p.V1130M 0.070 13.26 0.0459 Thompson et al., 2013 DNA SEQ MSH6_07439
5 c.3388G>C - p.V1130L 0.014 7.56 0.0105 Thompson et al., 2013 DNA SEQ MSH6_07440
5 c.3388G>T - p.V1130L 0.014 7.56 0.0105 Thompson et al., 2013 DNA SEQ MSH6_07441
5 c.3389T>A - p.V1130E 0.385 31.78 0.5724 Thompson et al., 2013 DNA SEQ MSH6_07442
5 c.3389T>C - p.V1130A 0.169 11.91 0.0544 Thompson et al., 2013 DNA SEQ MSH6_07443
5 c.3389T>G - p.V1130G 0.121 13.70 0.0605 Thompson et al., 2013 DNA SEQ MSH6_07444
5 c.3391C>A - p.L1131I 0.718 15.46 0.5186 Thompson et al., 2013 DNA SEQ MSH6_07445
5 c.3391C>G - p.L1131V 0.564 25.80 0.6413 Thompson et al., 2013 DNA SEQ MSH6_07446
5 c.3391C>T - p.L1131F 0.994 12.59 0.6866 Thompson et al., 2013 DNA SEQ MSH6_07447
5 c.3392T>A - p.L1131H 0.999 20.32 0.8690 Thompson et al., 2013 DNA SEQ MSH6_07448
5 c.3392T>C - p.L1131P 0.996 36.32 0.9607 Thompson et al., 2013 DNA SEQ MSH6_07449
5 c.3392T>G - p.L1131R 0.996 33.02 0.9517 Thompson et al., 2013 DNA SEQ MSH6_07450
5 c.3394G>A - p.V1132I 0.238 4.64 0.0090 Thompson et al., 2013 DNA SEQ MSH6_07451
5 c.3394G>C - p.V1132L 0.039 8.63 0.0157 Thompson et al., 2013 DNA SEQ MSH6_07452
5 c.3394G>T - p.V1132F 0.950 10.66 0.5545 Thompson et al., 2013 DNA SEQ MSH6_07453
5 c.3395T>A - p.V1132D 0.970 36.37 0.9565 Thompson et al., 2013 DNA SEQ MSH6_07454
5 c.3395T>C - p.V1132A 0.836 12.90 0.5415 Thompson et al., 2013 DNA SEQ MSH6_07455
5 c.3395T>G - p.V1132G 0.970 15.17 0.7512 Thompson et al., 2013 DNA SEQ MSH6_07456
5 c.3397A>C - p.T1133P 0.998 43.72 0.9741 Thompson et al., 2013 DNA SEQ MSH6_07457
5 c.3397A>G - p.T1133A 0.995 37.99 0.9643 Thompson et al., 2013 DNA SEQ MSH6_07458
5 c.3397A>T - p.T1133S 0.904 11.33 0.5403 Thompson et al., 2013 DNA SEQ MSH6_07459
5 c.3398C>A - p.T1133N 0.997 20.18 0.8662 Thompson et al., 2013 DNA SEQ MSH6_07460
5 c.3398C>G - p.T1133S 0.904 11.33 0.5403 Thompson et al., 2013 DNA SEQ MSH6_07461
5 c.3398C>T - p.T1133I 0.995 33.48 0.9530 Thompson et al., 2013 DNA SEQ MSH6_07462
5 c.3400G>A - p.G1134R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ MSH6_07463
5 c.3400G>C - p.G1134R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ MSH6_07464
5 c.3401G>A - p.G1134E 0.999 35.36 0.9589 Thompson et al., 2013 DNA SEQ MSH6_07465
5 c.3401G>C - p.G1134A 0.999 22.05 0.8887 Thompson et al., 2013 DNA SEQ MSH6_07466
5 c.3401G>T - p.G1134V 1.000 29.36 0.9389 Thompson et al., 2013 DNA SEQ MSH6_07467
5 c.3403C>A - p.P1135T 0.998 17.77 0.8297 Thompson et al., 2013 DNA SEQ MSH6_07468
5 c.3403C>G - p.P1135A 0.952 20.00 0.8397 Thompson et al., 2013 DNA SEQ MSH6_07469
5 c.3403C>T - p.P1135S 0.998 17.50 0.8247 Thompson et al., 2013 DNA SEQ MSH6_07470
5 c.3404C>A - p.P1135Q 0.994 17.67 0.8254 Thompson et al., 2013 DNA SEQ MSH6_07471
5 c.3404C>G - p.P1135R 0.999 41.48 0.9710 Thompson et al., 2013 DNA SEQ MSH6_07472
5 c.3404C>T - p.P1135L 0.999 26.92 0.9263 Thompson et al., 2013 DNA SEQ MSH6_07473
5 c.3406A>C - p.N1136H 1.000 14.29 0.7497 Thompson et al., 2013 DNA SEQ MSH6_07474
5 c.3406A>G - p.N1136D 0.999 29.27 0.9382 Thompson et al., 2013 DNA SEQ MSH6_07475
5 c.3406A>T - p.N1136Y 1.000 20.20 0.8679 Thompson et al., 2013 DNA SEQ MSH6_07476
5 c.3407A>C - p.N1136T 0.999 16.73 0.8101 Thompson et al., 2013 DNA SEQ MSH6_07477
5 c.3407A>G - p.N1136S 0.999 13.40 0.7205 Thompson et al., 2013 DNA SEQ MSH6_07478
5 c.3407A>T - p.N1136I 0.998 22.05 0.8883 Thompson et al., 2013 DNA SEQ MSH6_07479
5 c.3408T>A - p.N1136K 1.000 25.31 0.9164 Thompson et al., 2013 DNA SEQ MSH6_07480
5 c.3408T>G - p.N1136K 1.000 25.31 0.9164 Thompson et al., 2013 DNA SEQ MSH6_07481
5 c.3409A>C - p.M1137L 0.968 13.49 0.6964 Thompson et al., 2013 DNA SEQ MSH6_07482
5 c.3409A>G - p.M1137V 0.982 30.01 0.9373 Thompson et al., 2013 DNA SEQ MSH6_07483
5 c.3409A>T - p.M1137L 0.968 13.49 0.6964 Thompson et al., 2013 DNA SEQ MSH6_07484
5 c.3410T>A - p.M1137K 0.995 27.72 0.9296 Thompson et al., 2013 DNA SEQ MSH6_07485
5 c.3410T>C - p.M1137T 0.995 25.97 0.9192 Thompson et al., 2013 DNA SEQ MSH6_07486
5 c.3410T>G - p.M1137R 0.996 32.16 0.9489 Thompson et al., 2013 DNA SEQ MSH6_07487
5 c.3411G>A - p.M1137I 0.953 21.99 0.8671 Thompson et al., 2013 DNA SEQ MSH6_07488
5 c.3411G>C - p.M1137I 0.953 21.99 0.8671 Thompson et al., 2013 DNA SEQ MSH6_07489
5 c.3411G>T - p.M1137I 0.953 21.99 0.8671 Thompson et al., 2013 DNA SEQ MSH6_07490
5 c.3412G>A - p.G1138R 0.999 36.52 0.9617 Thompson et al., 2013 DNA SEQ MSH6_07491
5 c.3412G>C - p.G1138R 0.999 36.52 0.9617 Thompson et al., 2013 DNA SEQ MSH6_07492
5 c.3412G>T - p.G1138W 1.000 22.39 0.8925 Thompson et al., 2013 DNA SEQ MSH6_07493
5 c.3413G>A - p.G1138E 0.999 35.36 0.9589 Thompson et al., 2013 DNA SEQ MSH6_07494
5 c.3413G>C - p.G1138A 0.952 22.05 0.8673 Thompson et al., 2013 DNA SEQ MSH6_07495
5 c.3413G>T - p.G1138V 0.998 29.36 0.9384 Thompson et al., 2013 DNA SEQ MSH6_07496
5 c.3415G>A - p.G1139S 1.000 7.50 0.4095 Thompson et al., 2013 DNA SEQ MSH6_07497
5 c.3415G>C - p.G1139R 1.000 36.52 0.9618 Thompson et al., 2013 DNA SEQ MSH6_07498
5 c.3415G>T - p.G1139C 1.000 19.13 0.8531 Thompson et al., 2013 DNA SEQ MSH6_07499
5 c.3416G>A - p.G1139D 1.000 35.86 0.9603 Thompson et al., 2013 DNA SEQ MSH6_07500
7401 - 7500
[<<] [<-] ... 70 71 72 73 74 75 76 77 78 79 80 ... [->] [>>]

Save Click here to save this list in a tab-delimited text file.

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.

  Powered by LOVD v.2.0 Build 33
Enabled modules: mutalyzer
©2004-2011 Leiden University Medical Center