NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)
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rs63751221
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0.00001
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NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs)
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rs1553648058
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0.00001
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NC_000002.12:g.(?_47482779)_(47482949_?)del
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NM_000179.2(MSH6):c.3439-?_3556+?del
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NM_000179.2(MSH6):c.458-?_3556+?del
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NM_000179.2(MSH6):c.458-?_627+?del
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NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)
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rs63751127
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NM_000179.3(MSH6):c.3142C>T (p.Gln1048Ter)
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rs200492211
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NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)
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rs863225406
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NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
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rs267608078
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NM_000249.3(MLH1):c.1039-?_1558+?del
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NM_000249.3(MLH1):c.1732-?_1896+?del
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NM_000249.3(MLH1):c.307-?_1667+?dup
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NM_000249.3(MLH1):c.381-?_677+?del
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NM_000249.4(MLH1):c.1011del (p.Asn338fs)
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rs63750677
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NM_000249.4(MLH1):c.1325_1346delinsATTTT (p.Ala442fs)
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rs587778903
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NM_000249.4(MLH1):c.1358dup (p.Thr455fs)
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rs1553651429
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NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
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rs63750855
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NM_000249.4(MLH1):c.1559-1G>T
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rs267607837
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NM_000249.4(MLH1):c.1559-2A>G
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rs267607836
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NM_000249.4(MLH1):c.184C>T (p.Gln62Ter)
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rs63751428
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NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter)
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rs63749867
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NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter)
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rs267607893
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NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)
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rs63750437
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NM_000249.4(MLH1):c.453+1G>T
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rs267607750
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NM_000249.4(MLH1):c.456_545+2del
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rs1553642657
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NM_000249.4(MLH1):c.492del (p.Ala165fs)
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rs1553642698
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NM_000249.4(MLH1):c.546-2_589-59del
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rs2125805231
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NM_000249.4(MLH1):c.588+5G>A
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rs267607768
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NM_000249.4(MLH1):c.677+1G>T
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rs267607778
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NM_000249.4(MLH1):c.70del (p.Val24fs)
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rs63751396
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NM_000249.4(MLH1):c.753_755del (p.Tyr251_Ser252delinsTer)
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rs1553645256
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NM_000249.4(MLH1):c.791-1G>A
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rs267607795
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NM_000249.4(MLH1):c.898_908del (p.Pro300fs)
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rs1553647928
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NM_000249.4(MLH1):c.949del (p.Leu317fs)
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rs1553648029
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NM_000251.2(MSH2):c.1662-?_1759+?del
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NM_000251.2(MSH2):c.1760-?_2458+?del
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NM_000251.2(MSH2):c.2006-?_2210+?del
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NM_000251.2(MSH2):c.367-?_1076+?del
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NM_000251.2(MSH2):c.367-?_1276+?del
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NM_000251.2(MSH2):c.367-?_1386+?del
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NM_000251.2(MSH2):c.367-?_645+?del
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NM_000251.2(MSH2):c.943-?_1076+?del
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NM_000251.3(MSH2):c.1077_1276del
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rs1553356518
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NM_000251.3(MSH2):c.1277-2_1386+1del
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rs2103751857
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NM_000251.3(MSH2):c.1278_1386+1del
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rs1553361141
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NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter)
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rs63750521
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NM_000251.3(MSH2):c.1386+1G>A
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rs267607957
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NM_000251.3(MSH2):c.1418C>G (p.Ser473Ter)
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rs63751403
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NM_000251.3(MSH2):c.163del (p.Arg55fs)
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rs63750337
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NM_000251.3(MSH2):c.2100del (p.Glu701fs)
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rs1553369113
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NM_000251.3(MSH2):c.213_366+1del
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rs1553350052
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NM_000251.3(MSH2):c.2211-2A>T
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rs267608001
|
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NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs)
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rs587779148
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NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter)
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rs63749830
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NM_000251.3(MSH2):c.367-2_645+432del
|
rs2104016448
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NM_000251.3(MSH2):c.367-2_645+742del
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NM_000251.3(MSH2):c.459del (p.Ala154fs)
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rs2104023773
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NM_000251.3(MSH2):c.687_688insT (p.Ala230fs)
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rs63750364
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NM_000535.7(PMS2):c.1145-982_2006+2del
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NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
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rs63750250
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NM_000535.7(PMS2):c.2458dup (p.Thr820fs)
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rs1554292880
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NM_002354.2(EPCAM):c.904-?_945+?del
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Single allele
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