NM_002019.4(FLT1):c.2901G>A (p.Ala967=)
|
rs56314249
|
0.03272
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_024642.5(GALNT12):c.566A>G (p.Asn189Ser)
|
rs183981750
|
0.00039
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)
|
rs202145681
|
0.00013
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
NM_000249.4(MLH1):c.1489C>T (p.Arg497Trp)
|
rs200830026
|
0.00005
|
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)
|
rs369456858
|
0.00004
|
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln)
|
rs63750266
|
0.00004
|
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)
|
rs371302926
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_005762.3(TRIM28):c.1216+23C>T
|
rs398122526
|
0.00002
|
NM_000179.3(MSH6):c.1097A>G (p.Tyr366Cys)
|
rs1482767334
|
0.00001
|
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)
|
rs63750741
|
0.00001
|
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)
|
rs63751009
|
0.00001
|
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
|
rs63749873
|
0.00001
|
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
NM_000179.3(MSH6):c.905G>A (p.Arg302Lys)
|
rs587781510
|
0.00001
|
NM_000249.4(MLH1):c.1897-7C>T
|
rs373078652
|
0.00001
|
NM_000251.3(MSH2):c.1175A>T (p.Lys392Met)
|
rs61756465
|
0.00001
|
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val)
|
rs770625733
|
0.00001
|
NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg)
|
rs587782342
|
0.00001
|
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn)
|
rs549755590
|
0.00001
|
GRCh37/hg19 7p22.1(chr7:6026390-6027251)x3
|
|
|
NM_000179.3(MSH6):c.*24_*28del
|
rs587779200
|
|
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)
|
rs63750439
|
|
NM_000179.3(MSH6):c.1480G>T (p.Ala494Ser)
|
rs758699749
|
|
NM_000179.3(MSH6):c.1614_1615delinsAG (p.Tyr538_Leu539delinsTer)
|
rs267608049
|
|
NM_000179.3(MSH6):c.1645del (p.Ser549fs)
|
rs876661033
|
|
NM_000179.3(MSH6):c.2075A>G (p.Lys692Arg)
|
rs975991506
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)
|
rs63750111
|
|
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)
|
rs63750258
|
|
NM_000179.3(MSH6):c.322T>C (p.Cys108Arg)
|
rs1668689651
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
NM_000179.3(MSH6):c.3450A>C (p.Leu1150Phe)
|
rs762134820
|
|
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)
|
rs63751058
|
|
NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup)
|
rs1553333420
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
NM_000249.4(MLH1):c.1039-2329_1409+827del
|
|
|
NM_000249.4(MLH1):c.112A>C (p.Asn38His)
|
rs63750580
|
|
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)
|
rs63750540
|
|
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1558+1G>T
|
rs267607832
|
|
NM_000249.4(MLH1):c.1667+2_1667+8delinsATTT
|
rs587778938
|
|
NM_000249.4(MLH1):c.1731+2247_1897-402del
|
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1758dup (p.Met587fs)
|
rs63749863
|
|
NM_000249.4(MLH1):c.1774A>G (p.Ser592Gly)
|
rs2125984638
|
|
NM_000249.4(MLH1):c.1823C>T (p.Ala608Val)
|
rs267607864
|
|
NM_000249.4(MLH1):c.1831_1832del (p.Ile611fs)
|
rs63750150
|
|
NM_000249.4(MLH1):c.1865T>A (p.Leu622His)
|
rs63750693
|
|
NM_000249.4(MLH1):c.2044_2045del (p.Met682fs)
|
rs878853785
|
|
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter)
|
rs63750978
|
|
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs)
|
rs267607903
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2269dup (p.Ter757LeuextTer?)
|
rs1553666143
|
|
NM_000249.4(MLH1):c.306+5G>A
|
rs267607735
|
|
NM_000249.4(MLH1):c.392C>G (p.Ser131Ter)
|
rs63749818
|
|
NM_000249.4(MLH1):c.454-1G>A
|
rs193922370
|
|
NM_000249.4(MLH1):c.466T>C (p.Phe156Leu)
|
rs1060500691
|
|
NM_000249.4(MLH1):c.545+3A>G
|
rs267607760
|
|
NM_000249.4(MLH1):c.589-2A>G
|
rs267607767
|
|
NM_000249.4(MLH1):c.649C>A (p.Arg217Ser)
|
rs4986984
|
|
NM_000249.4(MLH1):c.670G>A (p.Val224Ile)
|
rs1553644251
|
|
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp)
|
rs63750303
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000251.1(MSH2):c.-823_1076+5984del
|
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.1216C>G (p.Arg406Gly)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1277-1180_1386+2226delinsCATTCTCTTTGAAAA
|
|
|
NM_000251.3(MSH2):c.1387-9T>A
|
rs587779087
|
|
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)
|
rs63750951
|
|
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)
|
rs63749993
|
|
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)
|
rs587779139
|
|
NM_000251.3(MSH2):c.2185_2192delinsCCCT (p.Met729fs)
|
rs2104378383
|
|
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)
|
rs63750704
|
|
NM_000251.3(MSH2):c.655dup (p.Arg219fs)
|
rs1558461615
|
|
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg)
|
rs1064794704
|
|
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)
|
rs63750828
|
|
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg)
|
rs587780041
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)
|
rs869320619
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.251-2A>C
|
rs587779340
|
|
NM_000535.7(PMS2):c.662C>T (p.Pro221Leu)
|
rs878854056
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)
|
rs267608153
|
|
NM_000535.7(PMS2):c.989-1G>T
|
rs587780064
|
|
NM_000535.7(PMS2):c.989-296_1144+706del
|
|
|
NM_002019.4(FLT1):c.2654_2655insA (p.Gly886fs)
|
rs555490448
|
|
NM_002019.4(FLT1):c.2708-29A>C
|
rs558381447
|
|
NM_002019.4(FLT1):c.2708-39G>C
|
rs537105078
|
|
NM_002019.4(FLT1):c.2871A>T (p.Leu957=)
|
rs148695719
|
|
NM_002019.4(FLT1):c.3042_3043insA (p.Ser1015fs)
|
rs573848371
|
|
NM_002019.4(FLT1):c.3175-69A>T
|
rs576912997
|
|
NM_002019.4(FLT1):c.3204T>C (p.Pro1068=)
|
rs2296189
|
|
NM_002019.4(FLT1):c.3287-16A>C
|
rs537403174
|
|
NM_002019.4(FLT1):c.3329G>C (p.Cys1110Ser)
|
rs730882263
|
|
NM_002354.2(EPCAM):c.859-1430_*2033del
|
|
|
NM_002354.3(EPCAM):c.-1C>G
|
rs533255660
|
|
NM_182710.3(KAT5):c.638T>G (p.Val213Gly)
|
rs386834229
|
|
Single allele
|
|
|