Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553642492
rs1553642492
MLH1
1 1.000 0.160 3 37008149 splice acceptor variant TTTTTTTTTTTGAGACAAAGTCTCACTCTGTTGCCCAGGCTGAAGTGCAGTGGTGTGATCTCAGCTCACTGCAATCACTACCTCTTGAGTTCAAGCAGTTGTCCTGCCTCAGCCTCTTGAGTACCTGGGATTACAGGCATGCGTCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGACCCACCCACCTTGGCCTCCCAAAGTTCTGGGATTACAGACGTGAGCCACTGCACCCAGCCTGAAAAATATCTTTGAATGCCATGTGATACTATACTTGTCAGTTTACATGTGTGTCCCACTAAATCATGTACTCTCCTGAGCAGGATCATGCTTTGTCTTCATATTTTCTGTACAAAGCAAAGACTCTGACACAAAGCTAGCCCCCAGTGCATAGTTGAGAAATCAGTGAATGAATGTGGGAGGCAGGAAAAATGTCCTTTAATTCTTCTGTTAATGCTGTCTTATCCCTGGCCCCAGTCAGTGCTTAGAACTGTGCTGTTGGTAAATATAATTGGATTCACTATCTTAAGACCTCGCTTTTGCCAGGACATCTTGGGTTTTATTTTCAAGTACTTCTATGAATTTACAAGAAAAATCAATCTTCTGTTCAGGTGGAGGACCTTTTTTACAACATAGCCACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTTGGCAGGTACAGTCCAAAATCTGGGAGTGGGTCTCTGAGATTTGTCATCAAAGTA/- del 0.700 0
dbSNP: rs1553352366
rs1553352366
MSH2
1 1.000 0.160 2 47414263 splice acceptor variant TTTTAGGTTGCAGTTTCATCACTGTCTGCGGTAATCAAGTTTTTAGAACTCTTATCAGATGATTCCAACTTTGGACAGTTTGAACTGACTACTTTTGACTTCAGCCAGTATATGAAATTGGATATTGCAGCAGTCAGAGCCCTTAACCTTTTTCAGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGTTAAAAATGTTGAATGGTTAAAAAATGTTTTCATTGACATATACTGAAGAAGCTTATAAAGGAGCTAAAATATTTTGAAATATTATTATACTTGGATTAGATAACTAGCTTTAAATGGCTGTATTTTTCTCTCCCCTCCTCCACTCCACTTTTTAACTTTTTTTTTTTTAAGTCAGAGTCTCACTTGTTCCCTAGGCCAGAGTGCAGTGGCACAATCTCAGCCCACTCTAACCTCCACCTCCCAAGTAGTTGGGATTACAGTTGCCTGCCACCATGCCTGGTTAATTTTTATATTTTTAGTAGGGTTGCGGGGACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTTCTGACCTTAGGTGATCCTCCCACCTCGGCTTCCCAAAGTGCTGGGATTACAGGCTTGAGCCATCGT/- del 0.700 0
dbSNP: rs63750486
rs63750486
MLH1
2 1.000 0.160 3 37047619 inframe deletion TTG/- delins 0.700 0
dbSNP: rs587779023
rs587779023
MLH1
1 1.000 0.160 3 37011845 splice donor variant TTCTCAGTTAAAAAAGT/- delins 0.700 0
dbSNP: rs587779036
rs587779036
MLH1
1 1.000 0.160 3 37014421 splice acceptor variant TTCTAATAGAGAACTGATAGAAATT/- delins 0.700 0
dbSNP: rs267608173
rs267608173
PMS2
3 0.925 0.160 7 5978625 frameshift variant TTCT/- delins 0.700 0
dbSNP: rs63751602
rs63751602
MSH2
2 1.000 0.160 2 47412416 frameshift variant TTCAA/- delins 0.700 0
dbSNP: rs587778930
rs587778930
MLH1
2 1.000 0.160 3 37040214 inframe deletion TTC/- delins 0.700 0
dbSNP: rs63751288
rs63751288
MSH2
1 1.000 0.160 2 47412477 frameshift variant TTAT/- delins 0.700 0
dbSNP: rs587779041
rs587779041
MLH1
1 1.000 0.160 3 37017500 splice acceptor variant TTAGATCGT/- delins 0.700 0
dbSNP: rs267607920
rs267607920
MSH2
1 1.000 0.160 2 47408450 frameshift variant TT/-;TTT delins 0.700 0
dbSNP: rs267608092
rs267608092
MSH6 ; FBXO11
4 0.925 0.160 2 47803553 frameshift variant TT/-;T;TTT delins 0.700 0
dbSNP: rs63751101
rs63751101
MLH1
2 1.000 0.160 3 37008824 frameshift variant TT/-;T;TTT delins 0.700 0
dbSNP: rs63750309
rs63750309
MLH1
1 1.000 0.160 3 37047534 frameshift variant TT/-;T delins 0.700 0
dbSNP: rs63751115
rs63751115
MSH2
2 1.000 0.160 2 47414355 frameshift variant TT/-;T delins 0.700 0
dbSNP: rs587783056
rs587783056
MSH6 ; FBXO11
4 0.925 0.160 2 47799685 frameshift variant TT/- delins 1.4E-05 0.700 1.000 1 2015 2015
dbSNP: rs267608042
rs267608042
MSH6 ; FBXO11
3 1.000 0.160 2 47801101 frameshift variant TT/- delins 0.700 0
dbSNP: rs63749872
rs63749872
MSH2
1 1.000 0.160 2 47408467 frameshift variant TT/- del 0.700 0
dbSNP: rs63750426
rs63750426
MSH2
1 1.000 0.160 2 47412462 frameshift variant TT/- delins 0.700 0
dbSNP: rs63751613
rs63751613
MLH1
1 1.000 0.160 3 37040200 frameshift variant TT/- del 0.700 0
dbSNP: rs587778980
rs587778980
MLH1
1 1.000 0.160 3 37050492 frameshift variant TGCCTGG/- delins 0.700 0
dbSNP: rs587779274
rs587779274
MSH6 ; FBXO11
1 1.000 0.160 2 47805664 frameshift variant TGCA/- delins 0.700 0
dbSNP: rs63750088
rs63750088
MSH2
1 1.000 0.160 2 47410285 inframe deletion TGAGGCTCT/- delins 0.700 0
dbSNP: rs267607873
rs267607873
MLH1
1 1.000 0.160 3 37048606 splice donor variant TGAGG/C delins 0.700 0
dbSNP: rs587779299
rs587779299
MSH6 ; FBXO11
1 1.000 0.160 2 47806619 frameshift variant TGAGAAGATGA/- del 0.700 0