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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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2 c.187G>T - p.D63Y 21.06 1 0.8784 Thompson et al., 2013 DNA SEQ MLH1_00731
2 c.188A>C - p.D63A 29.51 1 0.9395 Thompson et al., 2013 DNA SEQ MLH1_00732
2 c.188A>G - p.D63G 20.85 1 0.876 Thompson et al., 2013 DNA SEQ MLH1_00733
2 c.188A>T - p.D63V 22.25 1 0.8911 Thompson et al., 2013 DNA SEQ MLH1_00734
2 c.189C>A - p.D63E 23.98 1 0.9066 Thompson et al., 2013 DNA SEQ MLH1_00735
2 c.189C>G - p.D63E 23.98 1 0.9066 Thompson et al., 2013 DNA SEQ MLH1_00736
2 c.190A>C - p.N64H 14.29 0.999 0.7489 Thompson et al., 2013 DNA SEQ MLH1_00737
2 c.190A>G - p.N64D 29.27 0.851 0.8899 Thompson et al., 2013 DNA SEQ MLH1_00738
2 c.190A>T - p.N64Y 20.2 0.999 0.8675 Thompson et al., 2013 DNA SEQ MLH1_00739
2 c.191A>C - p.N64T 16.73 0.998 0.8095 Thompson et al., 2013 DNA SEQ MLH1_00740
2 c.191A>G - p.N64S 13.4 0.996 0.7179 Thompson et al., 2013 DNA SEQ MLH1_00741
2 c.191A>T - p.N64I 22.05 0.999 0.8887 Thompson et al., 2013 DNA SEQ MLH1_00742
2 c.192T>A - p.N64K 25.31 0.997 0.9154 Thompson et al., 2013 DNA SEQ MLH1_00743
2 c.192T>G - p.N64K 25.31 0.997 0.9154 Thompson et al., 2013 DNA SEQ MLH1_00744
2 c.193G>A - p.G65S 7.5 1 0.4095 Thompson et al., 2013 DNA SEQ MLH1_00745
2 c.193G>C - p.G65R 36.52 1 0.9618 Thompson et al., 2013 DNA SEQ MLH1_00746
2 c.193G>T - p.G65C 19.13 1 0.8531 Thompson et al., 2013 DNA SEQ MLH1_00747
2 c.194G>A - p.G65D 35.86 1 0.9603 Thompson et al., 2013 DNA SEQ MLH1_00748
2 c.194G>C - p.G65A 22.05 1 0.8891 Thompson et al., 2013 DNA SEQ MLH1_00749
2 c.194G>T - p.G65V 29.36 1 0.9389 Thompson et al., 2013 DNA SEQ MLH1_00750
2 c.196A>C - p.T66P 28.33 0.869 0.8902 Thompson et al., 2013 DNA SEQ MLH1_00751
2 c.196A>G - p.T66A 17.96 0.642 0.5227 Thompson et al., 2013 DNA SEQ MLH1_00752
2 c.196A>T - p.T66S 3.37 0.102 0.0025 Thompson et al., 2013 DNA SEQ MLH1_00753
2 c.197C>A - p.T66N 8.61 0.829 0.314 Thompson et al., 2013 DNA SEQ MLH1_00754
2 c.197C>G - p.T66S 3.37 0.102 0.0025 Thompson et al., 2013 DNA SEQ MLH1_00755
2 c.197C>T - p.T66I 7.67 0.869 0.2946 Thompson et al., 2013 DNA SEQ MLH1_00756
2 c.199G>A - p.G67R 36.52 1 0.9618 Thompson et al., 2013 DNA SEQ MLH1_00757
2 c.199G>C - p.G67R 36.52 1 0.9618 Thompson et al., 2013 DNA SEQ MLH1_00758
2 c.199G>T - p.G67W 22.39 1 0.8925 Thompson et al., 2013 DNA SEQ MLH1_00759
2 c.200G>A - p.G67E 35.36 1 0.9591 Thompson et al., 2013 DNA SEQ MLH1_00760
2 c.200G>C - p.G67A 22.05 1 0.8891 Thompson et al., 2013 DNA SEQ MLH1_00761
2 c.200G>T - p.G67V 29.36 1 0.9389 Thompson et al., 2013 DNA SEQ MLH1_00762
2 c.202A>C - p.I68L 10.44 0.996 0.5909 Thompson et al., 2013 DNA SEQ MLH1_00763
2 c.202A>G - p.I68V 10.65 0.996 0.6018 Thompson et al., 2013 DNA SEQ MLH1_00764
2 c.202A>T - p.I68F 10.65 1 0.6058 Thompson et al., 2013 DNA SEQ MLH1_00765
2 c.203T>A - p.I68N 17.95 1 0.8341 Thompson et al., 2013 DNA SEQ MLH1_00766
2 c.203T>C - p.I68T 19.6 0.999 0.8594 Thompson et al., 2013 DNA SEQ MLH1_00767
2 c.203T>G - p.I68S 20.83 0.999 0.8753 Thompson et al., 2013 DNA SEQ MLH1_00768
2 c.204C>G - p.I68M 15.7 1 0.7876 Thompson et al., 2013 DNA SEQ MLH1_00769
2 c.205A>G - p.R69G 25.9 0.995 0.9188 Thompson et al., 2013 DNA SEQ MLH1_00770
2 c.205A>T - p.R69W 22.31 0.999 0.8913 Thompson et al., 2013 DNA SEQ MLH1_00771
2 c.206G>A - p.R69K 6.07 0.739 0.1237 Thompson et al., 2013 DNA SEQ MLH1_00772
2 c.206G>C - p.R69T 26.48 0.99 0.9209 Thompson et al., 2013 DNA SEQ MLH1_00773
2 c.206G>T - p.R69M 15.78 0.997 0.7874 Thompson et al., 2013 DNA SEQ MLH1_00774
2 c.207G>C - p.R69S 21.57 0.992 0.8806 Thompson et al., 2013 DNA SEQ MLH1_00775
2 c.207G>T - p.R69S 21.57 0.992 0.8806 Thompson et al., 2013 DNA SEQ MLH1_00776
3 c.208A>C - p.K70Q 10.69 0.959 0.5655 Thompson et al., 2013 DNA SEQ MLH1_00777
3 c.208A>G - p.K70E 20.07 0.945 0.8367 Thompson et al., 2013 DNA SEQ MLH1_00778
3 c.209A>C - p.K70T 22.65 0.589 0.5967 Thompson et al., 2013 DNA SEQ MLH1_00779
3 c.209A>G - p.K70R 2.84 0.285 0.0036 Thompson et al., 2013 DNA SEQ MLH1_00780
3 c.209A>T - p.K70I 26.54 0.989 0.921 Thompson et al., 2013 DNA SEQ MLH1_00781
3 c.210A>C - p.K70N 12.64 0.975 0.6709 Thompson et al., 2013 DNA SEQ MLH1_00782
3 c.210A>T - p.K70N 12.64 0.975 0.6709 Thompson et al., 2013 DNA SEQ MLH1_00783
3 c.211G>A - p.E71K 18.36 0.964 0.8195 Thompson et al., 2013 DNA SEQ MLH1_00784
3 c.211G>C - p.E71Q 13.88 0.984 0.7237 Thompson et al., 2013 DNA SEQ MLH1_00785
3 c.212A>C - p.E71A 22.94 0.987 0.8925 Thompson et al., 2013 DNA SEQ MLH1_00786
3 c.212A>G - p.E71G 18.28 0.964 0.818 Thompson et al., 2013 DNA SEQ MLH1_00787
3 c.212A>T - p.E71V 25.92 0.99 0.9173 Thompson et al., 2013 DNA SEQ MLH1_00788
3 c.213A>C - p.E71D 2.83 0.386 0.0055 Thompson et al., 2013 DNA SEQ MLH1_00789
3 c.213A>T - p.E71D 2.83 0.386 0.0055 Thompson et al., 2013 DNA SEQ MLH1_00790
3 c.214G>A - p.D72N 13.97 0.952 0.6987 Thompson et al., 2013 DNA SEQ MLH1_00791
3 c.214G>C - p.D72H 20.32 0.999 0.869 Thompson et al., 2013 DNA SEQ MLH1_00792
3 c.214G>T - p.D72Y 21.06 0.999 0.878 Thompson et al., 2013 DNA SEQ MLH1_00793
3 c.215A>C - p.D72A 29.51 0.998 0.9391 Thompson et al., 2013 DNA SEQ MLH1_00794
3 c.215A>G - p.D72G 20.85 0.997 0.8746 Thompson et al., 2013 DNA SEQ MLH1_00795
3 c.215A>T - p.D72V 22.25 0.999 0.8907 Thompson et al., 2013 DNA SEQ MLH1_00796
3 c.216T>A - p.D72E 23.98 0.996 0.9051 Thompson et al., 2013 DNA SEQ MLH1_00797
3 c.216T>G - p.D72E 23.98 0.996 0.9051 Thompson et al., 2013 DNA SEQ MLH1_00798
3 c.217C>A - p.L73M 2.44 0.222 0.002 Thompson et al., 2013 DNA SEQ MLH1_00799
3 c.217C>G - p.L73V 25.38 0.753 0.7939 Thompson et al., 2013 DNA SEQ MLH1_00800
3 c.218T>A - p.L73Q 13.71 0.984 0.7181 Thompson et al., 2013 DNA SEQ MLH1_00801
3 c.218T>C - p.L73P 36.61 0.973 0.9576 Thompson et al., 2013 DNA SEQ MLH1_00802
3 c.218T>G - p.L73R 39.34 0.979 0.9647 Thompson et al., 2013 DNA SEQ MLH1_00803
3 c.220G>A - p.D74N 2.12 0.074 0.0008 Thompson et al., 2013 DNA SEQ MLH1_00804
3 c.220G>C - p.D74H 3.38 0.037 0.0019 Thompson et al., 2013 DNA SEQ MLH1_00805
3 c.220G>T - p.D74Y 4.27 0.566 0.0295 Thompson et al., 2013 DNA SEQ MLH1_00806
3 c.221A>C - p.D74A 7.59 0.071 0.0134 Thompson et al., 2013 DNA SEQ MLH1_00807
3 c.221A>G - p.D74G 4.19 0.012 0.0027 Thompson et al., 2013 DNA SEQ MLH1_00808
3 c.221A>T - p.D74V 10.65 0.487 0.1473 Thompson et al., 2013 DNA SEQ MLH1_00809
3 c.222T>A - p.D74E 1.78 0.012 0.0004 Thompson et al., 2013 DNA SEQ MLH1_00810
3 c.222T>G - p.D74E 1.78 0.012 0.0004 Thompson et al., 2013 DNA SEQ MLH1_00811
3 c.223A>C - p.I75L 10.44 0.996 0.5909 Thompson et al., 2013 DNA SEQ MLH1_00812
3 c.223A>G - p.I75V 10.65 0.996 0.6018 Thompson et al., 2013 DNA SEQ MLH1_00813
3 c.223A>T - p.I75F 10.65 1 0.6058 Thompson et al., 2013 DNA SEQ MLH1_00814
3 c.224T>A - p.I75N 17.95 1 0.8341 Thompson et al., 2013 DNA SEQ MLH1_00815
3 c.224T>C - p.I75T 19.6 0.999 0.8594 Thompson et al., 2013 DNA SEQ MLH1_00816
3 c.224T>G - p.I75S 20.83 0.999 0.8753 Thompson et al., 2013 DNA SEQ MLH1_00817
3 c.225T>G - p.I75M 15.7 1 0.7876 Thompson et al., 2013 DNA SEQ MLH1_00818
3 c.226G>A - p.V76I 11.96 0.82 0.4816 Thompson et al., 2013 DNA SEQ MLH1_00819
3 c.226G>C - p.V76L 20.81 0.953 0.852 Thompson et al., 2013 DNA SEQ MLH1_00820
3 c.226G>T - p.V76L 20.81 0.953 0.852 Thompson et al., 2013 DNA SEQ MLH1_00821
3 c.227T>A - p.V76E 32.45 0.996 0.9499 Thompson et al., 2013 DNA SEQ MLH1_00822
3 c.227T>C - p.V76A 27.75 0.989 0.928 Thompson et al., 2013 DNA SEQ MLH1_00823
3 c.227T>G - p.V76G 23.22 0.996 0.8986 Thompson et al., 2013 DNA SEQ MLH1_00824
3 c.229T>A - p.C77S 14.04 0.999 0.7413 Thompson et al., 2013 DNA SEQ MLH1_00825
3 c.229T>C - p.C77R 34.86 1 0.9578 Thompson et al., 2013 DNA SEQ MLH1_00826
3 c.229T>G - p.C77G 15.41 0.999 0.7798 Thompson et al., 2013 DNA SEQ MLH1_00827
3 c.230G>A - p.C77Y 21.23 1 0.8804 Thompson et al., 2013 DNA SEQ MLH1_00828
3 c.230G>C - p.C77S 14.04 0.999 0.7413 Thompson et al., 2013 DNA SEQ MLH1_00829
3 c.230G>T - p.C77F 21.32 1 0.8814 Thompson et al., 2013 DNA SEQ MLH1_00830
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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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