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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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RNA change Hide RNA change column Descending
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MAPP score Hide MAPP score column Descending
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17 c.1910T>C - p.I637T 1.99 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_04201
17 c.1910T>G - p.I637S 1.79 - 0.0004 Thompson et al., 2013 DNA SEQ MLH1_04202
17 c.1911T>G - p.I637M 5.48 0.019 0.0052 Thompson et al., 2013 DNA SEQ MLH1_04203
17 c.1912G>A - p.G638R 36.48 0.774 0.9057 Thompson et al., 2013 DNA SEQ MLH1_04204
17 c.1912G>C - p.G638R 36.48 0.774 0.9057 Thompson et al., 2013 DNA SEQ MLH1_04205
17 c.1913G>A - p.G638E 34.76 0.6 0.8039 Thompson et al., 2013 DNA SEQ MLH1_04206
17 c.1913G>C - p.G638A 15.27 0.239 0.1198 Thompson et al., 2013 DNA SEQ MLH1_04207
17 c.1913G>T - p.G638V 24.5 0.504 0.5518 Thompson et al., 2013 DNA SEQ MLH1_04208
17 c.1915T>A - p.L639I 3.72 0.202 0.0047 Thompson et al., 2013 DNA SEQ MLH1_04209
17 c.1915T>G - p.L639V 12.21 0.57 0.2513 Thompson et al., 2013 DNA SEQ MLH1_04210
17 c.1916T>C - p.L639S 26.8 0.953 0.9109 Thompson et al., 2013 DNA SEQ MLH1_04211
17 c.1917A>C - p.L639F 9.02 0.923 0.4316 Thompson et al., 2013 DNA SEQ MLH1_04212
17 c.1917A>T - p.L639F 9.02 0.923 0.4316 Thompson et al., 2013 DNA SEQ MLH1_04213
17 c.1918C>A - p.P640T 17.77 0.998 0.8297 Thompson et al., 2013 DNA SEQ MLH1_04214
17 c.1918C>G - p.P640A 20 0.998 0.8643 Thompson et al., 2013 DNA SEQ MLH1_04215
17 c.1918C>T - p.P640S 17.5 0.998 0.8247 Thompson et al., 2013 DNA SEQ MLH1_04216
17 c.1919C>A - p.P640H 19.31 0.999 0.8552 Thompson et al., 2013 DNA SEQ MLH1_04217
17 c.1919C>G - p.P640R 41.48 0.998 0.9709 Thompson et al., 2013 DNA SEQ MLH1_04218
17 c.1919C>T - p.P640L 26.92 0.998 0.926 Thompson et al., 2013 DNA SEQ MLH1_04219
17 c.1921C>A - p.L641I 15.24 0.056 0.0585 Thompson et al., 2013 DNA SEQ MLH1_04220
17 c.1921C>G - p.L641V 24.82 0.016 0.1369 Thompson et al., 2013 DNA SEQ MLH1_04221
17 c.1921C>T - p.L641F 11.19 0.413 0.1236 Thompson et al., 2013 DNA SEQ MLH1_04222
17 c.1922T>A - p.L641H 16.5 0.56 0.3892 Thompson et al., 2013 DNA SEQ MLH1_04223
17 c.1922T>C - p.L641P 36.3 0.616 0.8289 Thompson et al., 2013 DNA SEQ MLH1_04224
17 c.1922T>G - p.L641R 38.06 0.73 0.8976 Thompson et al., 2013 DNA SEQ MLH1_04225
17 c.1924C>A - p.L642M 10.18 0.905 0.4807 Thompson et al., 2013 DNA SEQ MLH1_04226
17 c.1924C>G - p.L642V 14.14 0.179 0.0813 Thompson et al., 2013 DNA SEQ MLH1_04227
17 c.1925T>A - p.L642Q 18.55 0.964 0.8229 Thompson et al., 2013 DNA SEQ MLH1_04228
17 c.1925T>C - p.L642P 35.69 0.941 0.949 Thompson et al., 2013 DNA SEQ MLH1_04229
17 c.1925T>G - p.L642R 34.97 0.964 0.9514 Thompson et al., 2013 DNA SEQ MLH1_04230
17 c.1927A>C - p.I643L 1.17 0.001 0.0001 Thompson et al., 2013 DNA SEQ MLH1_04231
17 c.1927A>G - p.I643V 12.46 0.002 0.0303 Thompson et al., 2013 DNA SEQ MLH1_04232
17 c.1927A>T - p.I643F 9.07 0.079 0.0207 Thompson et al., 2013 DNA SEQ MLH1_04233
17 c.1928T>A - p.I643N 25.03 0.278 0.3305 Thompson et al., 2013 DNA SEQ MLH1_04234
17 c.1928T>C - p.I643T 23.63 0.046 0.1388 Thompson et al., 2013 DNA SEQ MLH1_04235
17 c.1928T>G - p.I643S 26.85 0.079 0.1987 Thompson et al., 2013 DNA SEQ MLH1_04236
17 c.1929T>G - p.I643M 9.95 0.188 0.0398 Thompson et al., 2013 DNA SEQ MLH1_04237
17 c.1930G>A - p.D644N 9.35 0.714 0.2527 Thompson et al., 2013 DNA SEQ MLH1_04238
17 c.1930G>C - p.D644H 12.22 0.818 0.4917 Thompson et al., 2013 DNA SEQ MLH1_04239
17 c.1930G>T - p.D644Y 10.8 0.731 0.3353 Thompson et al., 2013 DNA SEQ MLH1_04240
17 c.1931A>C - p.D644A 18.22 0.48 0.362 Thompson et al., 2013 DNA SEQ MLH1_04241
17 c.1931A>G - p.D644G 13.52 0.034 0.0413 Thompson et al., 2013 DNA SEQ MLH1_04242
17 c.1931A>T - p.D644V 20.72 0.058 0.1118 Thompson et al., 2013 DNA SEQ MLH1_04243
17 c.1932C>A - p.D644E 3.99 0.02 0.0025 Thompson et al., 2013 DNA SEQ MLH1_04244
17 c.1932C>G - p.D644E 3.99 0.02 0.0025 Thompson et al., 2013 DNA SEQ MLH1_04245
17 c.1933A>C - p.N645H 4.45 0.151 0.0057 Thompson et al., 2013 DNA SEQ MLH1_04246
17 c.1933A>G - p.N645D 5.01 0.046 0.0047 Thompson et al., 2013 DNA SEQ MLH1_04247
17 c.1933A>T - p.N645Y 7.86 0.151 0.0203 Thompson et al., 2013 DNA SEQ MLH1_04248
17 c.1934A>C - p.N645T 6.58 0.019 0.0078 Thompson et al., 2013 DNA SEQ MLH1_04249
17 c.1934A>G - p.N645S 5.53 0.001 0.0049 Thompson et al., 2013 DNA SEQ MLH1_04250
17 c.1934A>T - p.N645I 21.23 0.228 0.2154 Thompson et al., 2013 DNA SEQ MLH1_04251
17 c.1935C>A - p.N645K 4 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_04252
17 c.1935C>G - p.N645K 4 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_04253
17 c.1936T>A - p.Y646N 17.86 0.975 0.8171 Thompson et al., 2013 DNA SEQ MLH1_04254
17 c.1936T>C - p.Y646H 16.52 0.457 0.2918 Thompson et al., 2013 DNA SEQ MLH1_04255
17 c.1936T>G - p.Y646D 35.81 0.981 0.957 Thompson et al., 2013 DNA SEQ MLH1_04256
17 c.1937A>C - p.Y646S 18.59 0.958 0.8199 Thompson et al., 2013 DNA SEQ MLH1_04257
17 c.1937A>G - p.Y646C 23.02 0.996 0.8968 Thompson et al., 2013 DNA SEQ MLH1_04258
17 c.1937A>T - p.Y646F 22.82 0.966 0.8824 Thompson et al., 2013 DNA SEQ MLH1_04259
17 c.1939G>A - p.V647M 4.62 0.241 0.009 Thompson et al., 2013 DNA SEQ MLH1_04260
17 c.1939G>C - p.V647L 3.57 0.032 0.0021 Thompson et al., 2013 DNA SEQ MLH1_04261
17 c.1939G>T - p.V647L 3.57 0.032 0.0021 Thompson et al., 2013 DNA SEQ MLH1_04262
17 c.1940T>A - p.V647E 23.72 0.011 0.1229 Thompson et al., 2013 DNA SEQ MLH1_04263
17 c.1940T>C - p.V647A 5.71 0.074 0.0072 Thompson et al., 2013 DNA SEQ MLH1_04264
17 c.1940T>G - p.V647G 5.3 0.124 0.0075 Thompson et al., 2013 DNA SEQ MLH1_04265
17 c.1942C>A - p.P648T 17.77 0.998 0.8297 Thompson et al., 2013 DNA SEQ MLH1_04266
17 c.1942C>G - p.P648A 20 0.998 0.8643 Thompson et al., 2013 DNA SEQ MLH1_04267
17 c.1942C>T - p.P648S 17.5 0.998 0.8247 Thompson et al., 2013 DNA SEQ MLH1_04268
17 c.1943C>A - p.P648H 19.31 0.999 0.8552 Thompson et al., 2013 DNA SEQ MLH1_04269
17 c.1943C>G - p.P648R 41.48 0.998 0.9709 Thompson et al., 2013 DNA SEQ MLH1_04270
17 c.1943C>T - p.P648L 26.92 0.998 0.926 Thompson et al., 2013 DNA SEQ MLH1_04271
17 c.1945C>A - p.P649T 4.14 0.032 0.0029 Thompson et al., 2013 DNA SEQ MLH1_04272
17 c.1945C>G - p.P649A 2.33 0.006 0.0007 Thompson et al., 2013 DNA SEQ MLH1_04273
17 c.1945C>T - p.P649S 3.43 0.002 0.0017 Thompson et al., 2013 DNA SEQ MLH1_04274
17 c.1946C>A - p.P649H 11 0.241 0.0612 Thompson et al., 2013 DNA SEQ MLH1_04275
17 c.1946C>G - p.P649R 23.09 0.112 0.1685 Thompson et al., 2013 DNA SEQ MLH1_04276
17 c.1946C>T - p.P649L 3.21 0.005 0.0015 Thompson et al., 2013 DNA SEQ MLH1_04277
17 c.1948T>A - p.L650M 4.12 0.091 0.0037 Thompson et al., 2013 DNA SEQ MLH1_04278
17 c.1948T>G - p.L650V 24.65 0.376 0.4198 Thompson et al., 2013 DNA SEQ MLH1_04279
17 c.1949T>C - p.L650S 17.98 0.81 0.6919 Thompson et al., 2013 DNA SEQ MLH1_04280
17 c.1949T>G - p.L650W 17.07 0.149 0.1067 Thompson et al., 2013 DNA SEQ MLH1_04281
17 c.1950G>C - p.L650F 11.15 0.81 0.4316 Thompson et al., 2013 DNA SEQ MLH1_04282
17 c.1950G>T - p.L650F 11.15 0.81 0.4316 Thompson et al., 2013 DNA SEQ MLH1_04283
17 c.1951G>A - p.E651K 4.4 0.228 0.0076 Thompson et al., 2013 DNA SEQ MLH1_04284
17 c.1951G>C - p.E651Q 3.48 0.569 0.019 Thompson et al., 2013 DNA SEQ MLH1_04285
17 c.1952A>C - p.E651A 21.32 0.037 0.1094 Thompson et al., 2013 DNA SEQ MLH1_04286
17 c.1952A>G - p.E651G 12.63 0.018 0.0334 Thompson et al., 2013 DNA SEQ MLH1_04287
17 c.1952A>T - p.E651V 30.41 0.303 0.4607 Thompson et al., 2013 DNA SEQ MLH1_04288
17 c.1953G>C - p.E651D 4.01 0.228 0.0062 Thompson et al., 2013 DNA SEQ MLH1_04289
17 c.1953G>T - p.E651D 4.01 0.228 0.0062 Thompson et al., 2013 DNA SEQ MLH1_04290
17 c.1954G>A - p.G652R 36.52 0.958 0.9547 Thompson et al., 2013 DNA SEQ MLH1_04291
17 c.1954G>C - p.G652R 36.52 0.958 0.9547 Thompson et al., 2013 DNA SEQ MLH1_04292
17 c.1955G>A - p.G652E 35.36 0.457 0.6986 Thompson et al., 2013 DNA SEQ MLH1_04293
17 c.1955G>C - p.G652A 22.05 0.939 0.8608 Thompson et al., 2013 DNA SEQ MLH1_04294
17 c.1955G>T - p.G652V 29.36 0.932 0.92 Thompson et al., 2013 DNA SEQ MLH1_04295
17 c.1957C>A - p.L653M 10.65 0.973 0.5781 Thompson et al., 2013 DNA SEQ MLH1_04296
17 c.1957C>G - p.L653V 25.8 0.953 0.9036 Thompson et al., 2013 DNA SEQ MLH1_04297
17 c.1958T>A - p.L653Q 15.01 0.99 0.7625 Thompson et al., 2013 DNA SEQ MLH1_04298
17 c.1958T>C - p.L653P 36.32 0.99 0.9598 Thompson et al., 2013 DNA SEQ MLH1_04299
17 c.1958T>G - p.L653R 33.02 0.99 0.9505 Thompson et al., 2013 DNA SEQ MLH1_04300
4201 - 4300
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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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