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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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14 c.1641A>C - p.L547F 12.59 0.996 0.6884 Thompson et al., 2013 DNA SEQ MLH1_03601
14 c.1641A>T - p.L547F 12.59 0.996 0.6884 Thompson et al., 2013 DNA SEQ MLH1_03602
14 c.1642T>A - p.Y548N 8.08 0.99 0.4404 Thompson et al., 2013 DNA SEQ MLH1_03603
14 c.1642T>C - p.Y548H 4.76 0.595 0.0421 Thompson et al., 2013 DNA SEQ MLH1_03604
14 c.1642T>G - p.Y548D 17.88 0.99 0.8268 Thompson et al., 2013 DNA SEQ MLH1_03605
14 c.1643A>C - p.Y548S 7.5 0.979 0.388 Thompson et al., 2013 DNA SEQ MLH1_03606
14 c.1643A>G - p.Y548C 9.8 0.997 0.5568 Thompson et al., 2013 DNA SEQ MLH1_03607
14 c.1643A>T - p.Y548F 10.96 0.971 0.5918 Thompson et al., 2013 DNA SEQ MLH1_03608
14 c.1645C>A - p.L549I 15.46 0.587 0.3814 Thompson et al., 2013 DNA SEQ MLH1_03609
14 c.1645C>G - p.L549V 25.8 0.788 0.8228 Thompson et al., 2013 DNA SEQ MLH1_03610
14 c.1645C>T - p.L549F 12.59 0.932 0.6271 Thompson et al., 2013 DNA SEQ MLH1_03611
14 c.1646T>A - p.L549H 20.32 0.981 0.86 Thompson et al., 2013 DNA SEQ MLH1_03612
14 c.1646T>C - p.L549P 36.32 0.981 0.9583 Thompson et al., 2013 DNA SEQ MLH1_03613
14 c.1646T>G - p.L549R 33.02 0.981 0.9487 Thompson et al., 2013 DNA SEQ MLH1_03614
14 c.1648C>A - p.L550I 1.29 0.065 0.0002 Thompson et al., 2013 DNA SEQ MLH1_03615
14 c.1648C>G - p.L550V 2.91 0.003 0.0012 Thompson et al., 2013 DNA SEQ MLH1_03616
14 c.1648C>T - p.L550F 5.4 0.02 0.005 Thompson et al., 2013 DNA SEQ MLH1_03617
14 c.1649T>A - p.L550H 14.33 0.715 0.4724 Thompson et al., 2013 DNA SEQ MLH1_03618
14 c.1649T>C - p.L550P 14.82 0.529 0.3044 Thompson et al., 2013 DNA SEQ MLH1_03619
14 c.1649T>G - p.L550R 35.29 0.655 0.8429 Thompson et al., 2013 DNA SEQ MLH1_03620
14 c.1651A>C - p.N551H 11.84 0.813 0.4685 Thompson et al., 2013 DNA SEQ MLH1_03621
14 c.1651A>G - p.N551D 24.36 0.706 0.7418 Thompson et al., 2013 DNA SEQ MLH1_03622
14 c.1651A>T - p.N551Y 9.69 0.878 0.4245 Thompson et al., 2013 DNA SEQ MLH1_03623
14 c.1652A>C - p.N551T 6.86 0.619 0.1005 Thompson et al., 2013 DNA SEQ MLH1_03624
14 c.1652A>G - p.N551S 5.28 0.09 0.0064 Thompson et al., 2013 DNA SEQ MLH1_03625
14 c.1652A>T - p.N551I 12.18 0.768 0.4369 Thompson et al., 2013 DNA SEQ MLH1_03626
14 c.1653C>A - p.N551K 25.27 0.706 0.7575 Thompson et al., 2013 DNA SEQ MLH1_03627
14 c.1653C>G - p.N551K 25.27 0.706 0.7575 Thompson et al., 2013 DNA SEQ MLH1_03628
14 c.1654A>C - p.T552P 17.54 0.975 0.8109 Thompson et al., 2013 DNA SEQ MLH1_03629
14 c.1654A>G - p.T552A 12.42 0.901 0.5883 Thompson et al., 2013 DNA SEQ MLH1_03630
14 c.1654A>T - p.T552S 4.52 0.966 0.1597 Thompson et al., 2013 DNA SEQ MLH1_03631
14 c.1655C>A - p.T552N 14.46 0.975 0.7345 Thompson et al., 2013 DNA SEQ MLH1_03632
14 c.1655C>G - p.T552S 4.52 0.966 0.1597 Thompson et al., 2013 DNA SEQ MLH1_03633
14 c.1655C>T - p.T552I 4.37 0.457 0.0197 Thompson et al., 2013 DNA SEQ MLH1_03634
14 c.1657A>C - p.T553P 8.76 0.431 0.0804 Thompson et al., 2013 DNA SEQ MLH1_03635
14 c.1657A>G - p.T553A 6.13 0.013 0.0065 Thompson et al., 2013 DNA SEQ MLH1_03636
14 c.1657A>T - p.T553S 1.67 0.094 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03637
14 c.1658C>A - p.T553N 4.04 0.233 0.0064 Thompson et al., 2013 DNA SEQ MLH1_03638
14 c.1658C>G - p.T553S 1.67 0.094 0.0005 Thompson et al., 2013 DNA SEQ MLH1_03639
14 c.1658C>T - p.T553I 3.78 0.154 0.004 Thompson et al., 2013 DNA SEQ MLH1_03640
14 c.1660A>C - p.K554Q 3.23 0.206 0.0035 Thompson et al., 2013 DNA SEQ MLH1_03641
14 c.1660A>G - p.K554E 6.58 0.124 0.0122 Thompson et al., 2013 DNA SEQ MLH1_03642
14 c.1661A>C - p.K554T 6.88 0.088 0.0116 Thompson et al., 2013 DNA SEQ MLH1_03643
14 c.1661A>G - p.K554R 1.44 0.006 0.0002 Thompson et al., 2013 DNA SEQ MLH1_03644
14 c.1661A>T - p.K554M 3.72 0.32 0.0077 Thompson et al., 2013 DNA SEQ MLH1_03645
14 c.1662G>C - p.K554N 4.21 0.012 0.0028 Thompson et al., 2013 DNA SEQ MLH1_03646
14 c.1662G>T - p.K554N 4.21 0.012 0.0028 Thompson et al., 2013 DNA SEQ MLH1_03647
14 c.1663C>A - p.L555I 15.46 0.307 0.1576 Thompson et al., 2013 DNA SEQ MLH1_03648
14 c.1663C>G - p.L555V 25.8 0.179 0.2575 Thompson et al., 2013 DNA SEQ MLH1_03649
14 c.1663C>T - p.L555F 12.59 0.179 0.0637 Thompson et al., 2013 DNA SEQ MLH1_03650
14 c.1664T>A - p.L555H 20.32 0.964 0.8511 Thompson et al., 2013 DNA SEQ MLH1_03651
14 c.1664T>C - p.L555P 36.32 0.941 0.9509 Thompson et al., 2013 DNA SEQ MLH1_03652
14 c.1664T>G - p.L555R 33.02 0.964 0.9451 Thompson et al., 2013 DNA SEQ MLH1_03653
14 c.1666A>C - p.S556R 36.37 0.975 0.9574 Thompson et al., 2013 DNA SEQ MLH1_03654
14 c.1666A>G - p.S556G 9.08 0.846 0.357 Thompson et al., 2013 DNA SEQ MLH1_03655
14 c.1666A>T - p.S556C 20.41 0.968 0.8545 Thompson et al., 2013 DNA SEQ MLH1_03656
14 c.1667G>A - p.S556N 14.09 0.966 0.7151 Thompson et al., 2013 DNA SEQ MLH1_03657
14 c.1667G>C - p.S556T 13.44 0.846 0.5749 Thompson et al., 2013 DNA SEQ MLH1_03658
14 c.1667G>T - p.S556I 29.33 0.932 0.9198 Thompson et al., 2013 DNA SEQ MLH1_03659
15 c.1668T>A - p.S556R 36.37 0.975 0.9574 Thompson et al., 2013 DNA SEQ MLH1_03660
15 c.1668T>G - p.S556R 36.37 0.975 0.9574 Thompson et al., 2013 DNA SEQ MLH1_03661
15 c.1669G>A - p.E557K 3.35 0.044 0.0019 Thompson et al., 2013 DNA SEQ MLH1_03662
15 c.1669G>C - p.E557Q 1.27 0.051 0.0002 Thompson et al., 2013 DNA SEQ MLH1_03663
15 c.1670A>C - p.E557A 18.86 0.505 0.4057 Thompson et al., 2013 DNA SEQ MLH1_03664
15 c.1670A>G - p.E557G 12.58 0.53 0.2325 Thompson et al., 2013 DNA SEQ MLH1_03665
15 c.1670A>T - p.E557V 28.85 0.53 0.6659 Thompson et al., 2013 DNA SEQ MLH1_03666
15 c.1671A>C - p.E557D 7.81 0.505 0.0845 Thompson et al., 2013 DNA SEQ MLH1_03667
15 c.1671A>T - p.E557D 7.81 0.505 0.0845 Thompson et al., 2013 DNA SEQ MLH1_03668
15 c.1672G>A - p.E558K 9.45 0.953 0.4896 Thompson et al., 2013 DNA SEQ MLH1_03669
15 c.1672G>C - p.E558Q 5.39 0.741 0.098 Thompson et al., 2013 DNA SEQ MLH1_03670
15 c.1673A>C - p.E558A 22.12 0.983 0.8825 Thompson et al., 2013 DNA SEQ MLH1_03671
15 c.1673A>G - p.E558G 22.31 0.979 0.8828 Thompson et al., 2013 DNA SEQ MLH1_03672
15 c.1673A>T - p.E558V 34.29 0.987 0.9539 Thompson et al., 2013 DNA SEQ MLH1_03673
15 c.1674A>C - p.E558D 9.01 0.969 0.4796 Thompson et al., 2013 DNA SEQ MLH1_03674
15 c.1674A>T - p.E558D 9.01 0.969 0.4796 Thompson et al., 2013 DNA SEQ MLH1_03675
15 c.1675C>A - p.L559M 10.65 0.905 0.5063 Thompson et al., 2013 DNA SEQ MLH1_03676
15 c.1675C>G - p.L559V 25.8 0.179 0.2575 Thompson et al., 2013 DNA SEQ MLH1_03677
15 c.1676T>A - p.L559Q 15.01 0.964 0.7418 Thompson et al., 2013 DNA SEQ MLH1_03678
15 c.1676T>C - p.L559P 36.32 0.941 0.9509 Thompson et al., 2013 DNA SEQ MLH1_03679
15 c.1676T>G - p.L559R 33.02 0.964 0.9451 Thompson et al., 2013 DNA SEQ MLH1_03680
15 c.1678T>A - p.F560I 10.86 0.995 0.6113 Thompson et al., 2013 DNA SEQ MLH1_03681
15 c.1678T>C - p.F560L 12.82 0.986 0.6881 Thompson et al., 2013 DNA SEQ MLH1_03682
15 c.1678T>G - p.F560V 17.61 0.995 0.8249 Thompson et al., 2013 DNA SEQ MLH1_03683
15 c.1679T>A - p.F560Y 16.28 0.993 0.7963 Thompson et al., 2013 DNA SEQ MLH1_03684
15 c.1679T>C - p.F560S 19.43 0.995 0.8549 Thompson et al., 2013 DNA SEQ MLH1_03685
15 c.1679T>G - p.F560C 17.91 0.999 0.8328 Thompson et al., 2013 DNA SEQ MLH1_03686
15 c.1680C>A - p.F560L 12.82 0.986 0.6881 Thompson et al., 2013 DNA SEQ MLH1_03687
15 c.1680C>G - p.F560L 12.82 0.986 0.6881 Thompson et al., 2013 DNA SEQ MLH1_03688
15 c.1681T>A - p.Y561N 17.86 0.996 0.8301 Thompson et al., 2013 DNA SEQ MLH1_03689
15 c.1681T>C - p.Y561H 16.52 0.996 0.8037 Thompson et al., 2013 DNA SEQ MLH1_03690
15 c.1681T>G - p.Y561D 35.81 0.996 0.9595 Thompson et al., 2013 DNA SEQ MLH1_03691
15 c.1682A>C - p.Y561S 18.59 0.996 0.8425 Thompson et al., 2013 DNA SEQ MLH1_03692
15 c.1682A>G - p.Y561C 23.02 0.999 0.898 Thompson et al., 2013 DNA SEQ MLH1_03693
15 c.1682A>T - p.Y561F 22.82 0.993 0.8938 Thompson et al., 2013 DNA SEQ MLH1_03694
15 c.1684C>A - p.Q562K 27.25 0.846 0.8706 Thompson et al., 2013 DNA SEQ MLH1_03695
15 c.1684C>G - p.Q562E 26.89 0.457 0.5546 Thompson et al., 2013 DNA SEQ MLH1_03696
15 c.1685A>C - p.Q562P 39.94 0.975 0.9652 Thompson et al., 2013 DNA SEQ MLH1_03697
15 c.1685A>G - p.Q562R 33.7 0.943 0.9428 Thompson et al., 2013 DNA SEQ MLH1_03698
15 c.1685A>T - p.Q562L 19.88 0.958 0.8413 Thompson et al., 2013 DNA SEQ MLH1_03699
15 c.1686G>C - p.Q562H 14.36 0.981 0.7364 Thompson et al., 2013 DNA SEQ MLH1_03700
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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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