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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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17 c.1960C>A - p.P654T 17.77 0.998 0.8297 Thompson et al., 2013 DNA SEQ MLH1_04301
17 c.1960C>G - p.P654A 20 0.998 0.8643 Thompson et al., 2013 DNA SEQ MLH1_04302
17 c.1960C>T - p.P654S 17.5 0.998 0.8247 Thompson et al., 2013 DNA SEQ MLH1_04303
17 c.1961C>A - p.P654H 19.31 0.999 0.8552 Thompson et al., 2013 DNA SEQ MLH1_04304
17 c.1961C>G - p.P654R 41.48 0.998 0.9709 Thompson et al., 2013 DNA SEQ MLH1_04305
17 c.1961C>T - p.P654L 26.92 0.998 0.926 Thompson et al., 2013 DNA SEQ MLH1_04306
17 c.1963A>C - p.I655L 2.93 - 0.0012 Thompson et al., 2013 DNA SEQ MLH1_04307
17 c.1963A>G - p.I655V 7.63 0.001 0.0101 Thompson et al., 2013 DNA SEQ MLH1_04308
17 c.1963A>T - p.I655F 3.18 0.028 0.0016 Thompson et al., 2013 DNA SEQ MLH1_04309
17 c.1964T>A - p.I655N 12.7 0.066 0.0411 Thompson et al., 2013 DNA SEQ MLH1_04310
17 c.1964T>C - p.I655T 6.75 0.001 0.0077 Thompson et al., 2013 DNA SEQ MLH1_04311
17 c.1964T>G - p.I655S 5.96 0.001 0.0058 Thompson et al., 2013 DNA SEQ MLH1_04312
17 c.1965C>G - p.I655M 2.38 0.001 0.0007 Thompson et al., 2013 DNA SEQ MLH1_04313
17 c.1966T>A - p.F656I 10.86 0.966 0.5816 Thompson et al., 2013 DNA SEQ MLH1_04314
17 c.1966T>C - p.F656L 12.82 0.939 0.6436 Thompson et al., 2013 DNA SEQ MLH1_04315
17 c.1966T>G - p.F656V 17.61 0.909 0.7656 Thompson et al., 2013 DNA SEQ MLH1_04316
17 c.1967T>A - p.F656Y 16.28 0.19 0.1133 Thompson et al., 2013 DNA SEQ MLH1_04317
17 c.1967T>C - p.F656S 19.43 0.958 0.8342 Thompson et al., 2013 DNA SEQ MLH1_04318
17 c.1967T>G - p.F656C 17.91 0.981 0.8218 Thompson et al., 2013 DNA SEQ MLH1_04319
17 c.1968C>A - p.F656L 12.82 0.939 0.6436 Thompson et al., 2013 DNA SEQ MLH1_04320
17 c.1968C>G - p.F656L 12.82 0.939 0.6436 Thompson et al., 2013 DNA SEQ MLH1_04321
17 c.1969A>C - p.I657L 5.9 0.007 0.0058 Thompson et al., 2013 DNA SEQ MLH1_04322
17 c.1969A>G - p.I657V 3.29 0.002 0.0015 Thompson et al., 2013 DNA SEQ MLH1_04323
17 c.1969A>T - p.I657F 6.32 0.352 0.0289 Thompson et al., 2013 DNA SEQ MLH1_04324
17 c.1970T>A - p.I657N 13.14 0.553 0.2694 Thompson et al., 2013 DNA SEQ MLH1_04325
17 c.1970T>C - p.I657T 8.41 0.167 0.0252 Thompson et al., 2013 DNA SEQ MLH1_04326
17 c.1970T>G - p.I657S 7.74 0.352 0.045 Thompson et al., 2013 DNA SEQ MLH1_04327
17 c.1971T>G - p.I657M 9.22 0.23 0.04 Thompson et al., 2013 DNA SEQ MLH1_04328
17 c.1972C>A - p.L658I 15.31 0.983 0.7652 Thompson et al., 2013 DNA SEQ MLH1_04329
17 c.1972C>G - p.L658V 25.14 0.882 0.8672 Thompson et al., 2013 DNA SEQ MLH1_04330
17 c.1972C>T - p.L658F 11.46 0.973 0.618 Thompson et al., 2013 DNA SEQ MLH1_04331
17 c.1973T>A - p.L658H 16.59 0.997 0.8058 Thompson et al., 2013 DNA SEQ MLH1_04332
17 c.1973T>C - p.L658P 36.53 0.99 0.9603 Thompson et al., 2013 DNA SEQ MLH1_04333
17 c.1973T>G - p.L658R 36.97 0.99 0.9613 Thompson et al., 2013 DNA SEQ MLH1_04334
17 c.1975C>G - p.R659G 25.9 0.997 0.9194 Thompson et al., 2013 DNA SEQ MLH1_04335
17 c.1976G>A - p.R659Q 14.43 0.996 0.7507 Thompson et al., 2013 DNA SEQ MLH1_04336
17 c.1976G>C - p.R659P 40.7 0.998 0.9697 Thompson et al., 2013 DNA SEQ MLH1_04337
17 c.1976G>T - p.R659L 19.03 0.997 0.85 Thompson et al., 2013 DNA SEQ MLH1_04338
17 c.1978C>A - p.L660I 15.46 0.473 0.275 Thompson et al., 2013 DNA SEQ MLH1_04339
17 c.1978C>G - p.L660V 25.8 0.798 0.8289 Thompson et al., 2013 DNA SEQ MLH1_04340
17 c.1979T>A - p.L660Q 15.01 0.982 0.7562 Thompson et al., 2013 DNA SEQ MLH1_04341
17 c.1979T>C - p.L660P 36.32 0.982 0.9584 Thompson et al., 2013 DNA SEQ MLH1_04342
17 c.1979T>G - p.L660R 33.02 0.982 0.9489 Thompson et al., 2013 DNA SEQ MLH1_04343
17 c.1981G>A - p.A661T 10.25 0.872 0.4496 Thompson et al., 2013 DNA SEQ MLH1_04344
17 c.1981G>C - p.A661P 14.14 0.958 0.7098 Thompson et al., 2013 DNA SEQ MLH1_04345
17 c.1981G>T - p.A661S 7.9 0.292 0.0368 Thompson et al., 2013 DNA SEQ MLH1_04346
17 c.1982C>A - p.A661D 44.89 0.958 0.9712 Thompson et al., 2013 DNA SEQ MLH1_04347
17 c.1982C>G - p.A661G 8.24 0.292 0.0404 Thompson et al., 2013 DNA SEQ MLH1_04348
17 c.1982C>T - p.A661V 9.48 0.909 0.4447 Thompson et al., 2013 DNA SEQ MLH1_04349
17 c.1984A>C - p.T662P 43.72 0.979 0.972 Thompson et al., 2013 DNA SEQ MLH1_04350
17 c.1984A>G - p.T662A 37.99 0.917 0.9509 Thompson et al., 2013 DNA SEQ MLH1_04351
17 c.1984A>T - p.T662S 11.33 0.454 0.1473 Thompson et al., 2013 DNA SEQ MLH1_04352
17 c.1985C>A - p.T662N 20.18 0.979 0.8571 Thompson et al., 2013 DNA SEQ MLH1_04353
17 c.1985C>G - p.T662S 11.33 0.454 0.1473 Thompson et al., 2013 DNA SEQ MLH1_04354
17 c.1985C>T - p.T662I 33.48 0.987 0.9514 Thompson et al., 2013 DNA SEQ MLH1_04355
17 c.1987G>A - p.E663K 19.98 0.971 0.85 Thompson et al., 2013 DNA SEQ MLH1_04356
17 c.1987G>C - p.E663Q 13.2 0.983 0.6994 Thompson et al., 2013 DNA SEQ MLH1_04357
17 c.1988A>C - p.E663A 24.45 0.983 0.9041 Thompson et al., 2013 DNA SEQ MLH1_04358
17 c.1988A>G - p.E663G 28.23 0.971 0.9255 Thompson et al., 2013 DNA SEQ MLH1_04359
17 c.1988A>T - p.E663V 31.34 0.987 0.944 Thompson et al., 2013 DNA SEQ MLH1_04360
17 c.1989G>C - p.E663D 13.31 0.629 0.3442 Thompson et al., 2013 DNA SEQ MLH1_04361
17 c.1989G>T - p.E663D 13.31 0.629 0.3442 Thompson et al., 2013 DNA SEQ MLH1_04362
18 c.1990G>A - p.V664M 24.43 0.984 0.9043 Thompson et al., 2013 DNA SEQ MLH1_04363
18 c.1990G>C - p.V664L 20.81 0.629 0.5915 Thompson et al., 2013 DNA SEQ MLH1_04364
18 c.1990G>T - p.V664L 20.81 0.629 0.5915 Thompson et al., 2013 DNA SEQ MLH1_04365
18 c.1991T>A - p.V664E 32.45 0.984 0.9474 Thompson et al., 2013 DNA SEQ MLH1_04366
18 c.1991T>C - p.V664A 27.75 0.948 0.9155 Thompson et al., 2013 DNA SEQ MLH1_04367
18 c.1991T>G - p.V664G 23.22 0.987 0.8951 Thompson et al., 2013 DNA SEQ MLH1_04368
18 c.1993A>C - p.N665H 6.45 0.884 0.231 Thompson et al., 2013 DNA SEQ MLH1_04369
18 c.1993A>G - p.N665D 2.82 0.011 0.0011 Thompson et al., 2013 DNA SEQ MLH1_04370
18 c.1993A>T - p.N665Y 12.34 0.884 0.5671 Thompson et al., 2013 DNA SEQ MLH1_04371
18 c.1994A>C - p.N665T 10.07 0.576 0.1819 Thompson et al., 2013 DNA SEQ MLH1_04372
18 c.1994A>G - p.N665S 9.08 0.357 0.0647 Thompson et al., 2013 DNA SEQ MLH1_04373
18 c.1994A>T - p.N665I 33.29 0.852 0.9158 Thompson et al., 2013 DNA SEQ MLH1_04374
18 c.1995T>A - p.N665K 6.14 0.451 0.0407 Thompson et al., 2013 DNA SEQ MLH1_04375
18 c.1995T>G - p.N665K 6.14 0.451 0.0407 Thompson et al., 2013 DNA SEQ MLH1_04376
18 c.1996T>A - p.W666R 37.82 0.997 0.9642 Thompson et al., 2013 DNA SEQ MLH1_04377
18 c.1996T>C - p.W666R 37.82 0.997 0.9642 Thompson et al., 2013 DNA SEQ MLH1_04378
18 c.1996T>G - p.W666G 23.29 0.996 0.8993 Thompson et al., 2013 DNA SEQ MLH1_04379
18 c.1997G>C - p.W666S 16.73 0.997 0.8088 Thompson et al., 2013 DNA SEQ MLH1_04380
18 c.1997G>T - p.W666L 33.15 0.996 0.9521 Thompson et al., 2013 DNA SEQ MLH1_04381
18 c.1998G>C - p.W666C 29.05 0.999 0.9372 Thompson et al., 2013 DNA SEQ MLH1_04382
18 c.1998G>T - p.W666C 29.05 0.999 0.9372 Thompson et al., 2013 DNA SEQ MLH1_04383
18 c.1999G>A - p.D667N 13.85 0.392 0.1731 Thompson et al., 2013 DNA SEQ MLH1_04384
18 c.1999G>C - p.D667H 18.37 0.932 0.7986 Thompson et al., 2013 DNA SEQ MLH1_04385
18 c.1999G>T - p.D667Y 14.2 0.892 0.6509 Thompson et al., 2013 DNA SEQ MLH1_04386
18 c.2000A>C - p.D667A 22.35 0.713 0.7089 Thompson et al., 2013 DNA SEQ MLH1_04387
18 c.2000A>G - p.D667G 18.16 0.805 0.6922 Thompson et al., 2013 DNA SEQ MLH1_04388
18 c.2000A>T - p.D667V 24.78 0.157 0.2237 Thompson et al., 2013 DNA SEQ MLH1_04389
18 c.2001C>A - p.D667E 3.48 0.178 0.0036 Thompson et al., 2013 DNA SEQ MLH1_04390
18 c.2001C>G - p.D667E 3.48 0.178 0.0036 Thompson et al., 2013 DNA SEQ MLH1_04391
18 c.2002G>A - p.E668K 2.73 0.001 0.001 Thompson et al., 2013 DNA SEQ MLH1_04392
18 c.2002G>C - p.E668Q 2.02 0.011 0.0005 Thompson et al., 2013 DNA SEQ MLH1_04393
18 c.2003A>C - p.E668A 5.49 0.016 0.0051 Thompson et al., 2013 DNA SEQ MLH1_04394
18 c.2003A>G - p.E668G 3.3 0.027 0.0017 Thompson et al., 2013 DNA SEQ MLH1_04395
18 c.2003A>T - p.E668V 9.76 0.002 0.0176 Thompson et al., 2013 DNA SEQ MLH1_04396
18 c.2004A>C - p.E668D 3.05 0.002 0.0013 Thompson et al., 2013 DNA SEQ MLH1_04397
18 c.2004A>T - p.E668D 3.05 0.002 0.0013 Thompson et al., 2013 DNA SEQ MLH1_04398
18 c.2005G>A - p.E669K 19.98 0.995 0.8626 Thompson et al., 2013 DNA SEQ MLH1_04399
18 c.2005G>C - p.E669Q 13.2 0.996 0.711 Thompson et al., 2013 DNA SEQ MLH1_04400
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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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