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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.1192C>A - p.Q398K 3.31 0.002 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02601
12 c.1192C>G - p.Q398E 10.53 0.005 0.0212 Thompson et al., 2013 DNA SEQ MLH1_02602
12 c.1193A>C - p.Q398P 31.15 0.132 0.3033 Thompson et al., 2013 DNA SEQ MLH1_02603
12 c.1193A>G - p.Q398R 4.03 0.008 0.0025 Thompson et al., 2013 DNA SEQ MLH1_02604
12 c.1193A>T - p.Q398L 3.2 0.002 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02605
12 c.1194G>C - p.Q398H 6.44 0.014 0.0073 Thompson et al., 2013 DNA SEQ MLH1_02606
12 c.1194G>T - p.Q398H 6.44 0.014 0.0073 Thompson et al., 2013 DNA SEQ MLH1_02607
12 c.1195C>A - p.P399T 3.2 0.005 0.0014 Thompson et al., 2013 DNA SEQ MLH1_02608
12 c.1195C>G - p.P399A 3.4 0.045 0.002 Thompson et al., 2013 DNA SEQ MLH1_02609
12 c.1195C>T - p.P399S 3.44 0.018 0.0018 Thompson et al., 2013 DNA SEQ MLH1_02610
12 c.1196C>A - p.P399H 2.54 0.415 0.0049 Thompson et al., 2013 DNA SEQ MLH1_02611
12 c.1196C>G - p.P399R 4.04 0.177 0.0051 Thompson et al., 2013 DNA SEQ MLH1_02612
12 c.1196C>T - p.P399L 3.52 0.076 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02613
12 c.1198C>A - p.L400M 2.69 0.002 0.001 Thompson et al., 2013 DNA SEQ MLH1_02614
12 c.1198C>G - p.L400V 1.86 - 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02615
12 c.1199T>A - p.L400Q 1.68 0.021 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02616
12 c.1199T>C - p.L400P 2.99 0.001 0.0012 Thompson et al., 2013 DNA SEQ MLH1_02617
12 c.1199T>G - p.L400R 5.1 0.014 0.0043 Thompson et al., 2013 DNA SEQ MLH1_02618
12 c.1201A>C - p.S401R 4.32 0.005 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02619
12 c.1201A>G - p.S401G 1.96 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02620
12 c.1201A>T - p.S401C 4.53 0.243 0.0087 Thompson et al., 2013 DNA SEQ MLH1_02621
12 c.1202G>A - p.S401N 1.18 0.001 0.0001 Thompson et al., 2013 DNA SEQ MLH1_02622
12 c.1202G>C - p.S401T 4.41 0.001 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02623
12 c.1202G>T - p.S401I 5.58 0.038 0.0058 Thompson et al., 2013 DNA SEQ MLH1_02624
12 c.1203C>A - p.S401R 4.32 0.005 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02625
12 c.1203C>G - p.S401R 4.32 0.005 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02626
12 c.1204A>C - p.K402Q 2.29 0.002 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02627
12 c.1204A>G - p.K402E 4.29 0.01 0.0029 Thompson et al., 2013 DNA SEQ MLH1_02628
12 c.1205A>C - p.K402T 4.27 0.002 0.0027 Thompson et al., 2013 DNA SEQ MLH1_02629
12 c.1205A>G - p.K402R 2.26 0.002 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02630
12 c.1205A>T - p.K402I 7.98 0.006 0.0114 Thompson et al., 2013 DNA SEQ MLH1_02631
12 c.1206A>C - p.K402N 1.91 0.002 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02632
12 c.1206A>T - p.K402N 1.91 0.002 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02633
12 c.1207C>A - p.P403T 3.26 - 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02634
12 c.1207C>G - p.P403A 2.75 - 0.001 Thompson et al., 2013 DNA SEQ MLH1_02635
12 c.1207C>T - p.P403S 1.99 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02636
12 c.1208C>A - p.P403H 3.08 0.047 0.0016 Thompson et al., 2013 DNA SEQ MLH1_02637
12 c.1208C>G - p.P403R 5.42 0.001 0.0047 Thompson et al., 2013 DNA SEQ MLH1_02638
12 c.1208C>T - p.P403L 4.27 - 0.0027 Thompson et al., 2013 DNA SEQ MLH1_02639
12 c.1210C>A - p.L404M 3.49 0.027 0.0019 Thompson et al., 2013 DNA SEQ MLH1_02640
12 c.1210C>G - p.L404V 2.07 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02641
12 c.1211T>A - p.L404Q 2.06 0.002 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02642
12 c.1211T>C - p.L404P 8.72 - 0.0136 Thompson et al., 2013 DNA SEQ MLH1_02643
12 c.1211T>G - p.L404R 23.82 0.026 0.131 Thompson et al., 2013 DNA SEQ MLH1_02644
12 c.1213T>A - p.S405T 2.42 0.018 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02645
12 c.1213T>C - p.S405P 5.28 0.001 0.0044 Thompson et al., 2013 DNA SEQ MLH1_02646
12 c.1213T>G - p.S405A 3.03 0.004 0.0013 Thompson et al., 2013 DNA SEQ MLH1_02647
12 c.1214C>A - p.S405Y 3.03 0.115 0.002 Thompson et al., 2013 DNA SEQ MLH1_02648
12 c.1214C>G - p.S405C 1.66 0.19 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02649
12 c.1214C>T - p.S405F 2.35 0.115 0.0011 Thompson et al., 2013 DNA SEQ MLH1_02650
12 c.1216A>C - p.S406R 5.05 0.112 0.0064 Thompson et al., 2013 DNA SEQ MLH1_02651
12 c.1216A>G - p.S406G 2.32 0.005 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02652
12 c.1216A>T - p.S406C 5.04 0.295 0.0138 Thompson et al., 2013 DNA SEQ MLH1_02653
12 c.1217G>A - p.S406N 2.34 0.011 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02654
12 c.1217G>C - p.S406T 4.24 0.005 0.0027 Thompson et al., 2013 DNA SEQ MLH1_02655
12 c.1217G>T - p.S406I 6.81 0.019 0.0085 Thompson et al., 2013 DNA SEQ MLH1_02656
12 c.1218T>A - p.S406R 5.05 0.112 0.0064 Thompson et al., 2013 DNA SEQ MLH1_02657
12 c.1218T>G - p.S406R 5.05 0.112 0.0064 Thompson et al., 2013 DNA SEQ MLH1_02658
12 c.1219C>A - p.Q407K 1.83 - 0.0004 Thompson et al., 2013 DNA SEQ MLH1_02659
12 c.1219C>G - p.Q407E 4.03 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02660
12 c.1220A>C - p.Q407P 7.52 - 0.0098 Thompson et al., 2013 DNA SEQ MLH1_02661
12 c.1220A>G - p.Q407R 2.11 - 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02662
12 c.1220A>T - p.Q407L 2.03 - 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02663
12 c.1221G>C - p.Q407H 2.14 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02664
12 c.1221G>T - p.Q407H 2.14 0.001 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02665
12 c.1222C>A - p.P408T 3.04 0.001 0.0013 Thompson et al., 2013 DNA SEQ MLH1_02666
12 c.1222C>G - p.P408A 3.25 0.001 0.0015 Thompson et al., 2013 DNA SEQ MLH1_02667
12 c.1222C>T - p.P408S 2.97 - 0.0012 Thompson et al., 2013 DNA SEQ MLH1_02668
12 c.1223C>A - p.P408H 11.02 0.002 0.0231 Thompson et al., 2013 DNA SEQ MLH1_02669
12 c.1223C>G - p.P408R 23.36 0.026 0.126 Thompson et al., 2013 DNA SEQ MLH1_02670
12 c.1223C>T - p.P408L 6.15 0.001 0.0062 Thompson et al., 2013 DNA SEQ MLH1_02671
12 c.1225C>A - p.Q409K 4.99 0.001 0.0039 Thompson et al., 2013 DNA SEQ MLH1_02672
12 c.1225C>G - p.Q409E 5.29 - 0.0044 Thompson et al., 2013 DNA SEQ MLH1_02673
12 c.1226A>C - p.Q409P 4.79 - 0.0035 Thompson et al., 2013 DNA SEQ MLH1_02674
12 c.1226A>G - p.Q409R 6.21 0.016 0.0068 Thompson et al., 2013 DNA SEQ MLH1_02675
12 c.1226A>T - p.Q409L 7.15 0.011 0.0091 Thompson et al., 2013 DNA SEQ MLH1_02676
12 c.1227G>C - p.Q409H 3.02 0.072 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02677
12 c.1227G>T - p.Q409H 3.02 0.072 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02678
12 c.1228G>A - p.A410T 2.51 0.001 0.0008 Thompson et al., 2013 DNA SEQ MLH1_02679
12 c.1228G>C - p.A410P 5.49 0.001 0.0048 Thompson et al., 2013 DNA SEQ MLH1_02680
12 c.1228G>T - p.A410S 1.51 0.001 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02681
12 c.1229C>A - p.A410D 3.42 0.001 0.0017 Thompson et al., 2013 DNA SEQ MLH1_02682
12 c.1229C>G - p.A410G 2.07 0.001 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02683
12 c.1229C>T - p.A410V 3.12 - 0.0013 Thompson et al., 2013 DNA SEQ MLH1_02684
12 c.1231A>C - p.I411L 2.18 - 0.0006 Thompson et al., 2013 DNA SEQ MLH1_02685
12 c.1231A>G - p.I411V 2.99 - 0.0012 Thompson et al., 2013 DNA SEQ MLH1_02686
12 c.1231A>T - p.I411F 2.33 - 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02687
12 c.1232T>A - p.I411N 1.5 0.005 0.0003 Thompson et al., 2013 DNA SEQ MLH1_02688
12 c.1232T>C - p.I411T 2.66 - 0.0009 Thompson et al., 2013 DNA SEQ MLH1_02689
12 c.1232T>G - p.I411S 2.34 - 0.0007 Thompson et al., 2013 DNA SEQ MLH1_02690
12 c.1233T>G - p.I411M 1.98 0.004 0.0005 Thompson et al., 2013 DNA SEQ MLH1_02691
12 c.1234G>A - p.V412I - 0.015 0.0027 Thompson et al., 2013 DNA SEQ MLH1_02692
12 c.1234G>C - p.V412L - 0.015 0.0027 Thompson et al., 2013 DNA SEQ MLH1_02693
12 c.1234G>T - p.V412F - 0.064 0.0041 Thompson et al., 2013 DNA SEQ MLH1_02694
12 c.1235T>A - p.V412D - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02695
12 c.1235T>C - p.V412A - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02696
12 c.1235T>G - p.V412G - 0.015 0.0027 Thompson et al., 2013 DNA SEQ MLH1_02697
12 c.1237A>C - p.T413P - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02698
12 c.1237A>G - p.T413A - 0.001 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02699
12 c.1237A>T - p.T413S - - 0.0024 Thompson et al., 2013 DNA SEQ MLH1_02700
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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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