NM_000251.3(MSH2):c.942+2T>A
|
rs587779195
|
0.00101
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp)
|
rs544654228
|
0.00004
|
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)
|
rs759263820
|
0.00003
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter)
|
rs147542208
|
0.00001
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln)
|
rs759263820
|
0.00001
|
NM_000251.3(MSH2):c.2458+2T>C
|
rs1278858560
|
0.00001
|
NM_000251.3(MSH2):c.2459-6_2459-2del
|
rs1114167841
|
0.00001
|
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp)
|
rs587779162
|
0.00001
|
NC_000002.11:g.(?_47690170)_(47708011_?)del
|
|
|
NC_000002.12:g.(?_47612305)_(47643568_?)del
|
|
|
NC_000002.12:g.(?_47614711)_(47657080_?)del
|
|
|
NM_000051.4(ATM):c.201T>G (p.Tyr67Ter)
|
rs1555055083
|
|
NM_000179.3(MSH6):c.1445G>C (p.Arg482Pro)
|
rs773226008
|
|
NM_000179.3(MSH6):c.1998dup (p.Asp667Ter)
|
|
|
NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter)
|
rs63750832
|
|
NM_000179.3(MSH6):c.2234T>A (p.Ile745Asn)
|
rs1558664787
|
|
NM_000179.3(MSH6):c.2308G>T (p.Gly770Cys)
|
|
|
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)
|
rs63749919
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
NM_000179.3(MSH6):c.3522dup (p.Thr1175fs)
|
|
|
NM_000179.3(MSH6):c.3801+2T>G
|
rs1558392617
|
|
NM_000179.3(MSH6):c.3820G>T (p.Glu1274Ter)
|
rs587779294
|
|
NM_000179.3(MSH6):c.619G>T (p.Glu207Ter)
|
rs1322095633
|
|
NM_000249.3:c.(306+1_307-1)_(790+1_791-1)del
|
|
|
NM_000249.4(MLH1):c.1139_1149del (p.Ala380fs)
|
rs2083404326
|
|
NM_000249.4(MLH1):c.114C>A (p.Asn38Lys)
|
rs267607706
|
|
NM_000249.4(MLH1):c.1168del (p.Glu390fs)
|
|
|
NM_000249.4(MLH1):c.117-1G>T
|
rs587779950
|
|
NM_000249.4(MLH1):c.1230_1232delinsTG (p.Ile411fs)
|
rs1575536219
|
|
NM_000249.4(MLH1):c.1612del (p.Trp538fs)
|
rs2084643841
|
|
NM_000249.4(MLH1):c.1616_1619del (p.Ala539fs)
|
rs2084645057
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.1866del (p.Ala623fs)
|
rs587778950
|
|
NM_000249.4(MLH1):c.1926dup (p.Ile643fs)
|
rs2085415475
|
|
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)
|
rs63750610
|
|
NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg)
|
rs63751202
|
|
NM_000249.4(MLH1):c.1990-3_2001del
|
rs2085459433
|
|
NM_000249.4(MLH1):c.2041del (p.Ala681fs)
|
rs2085472296
|
|
NM_000249.4(MLH1):c.2128_2131dup (p.Ser711Ter)
|
|
|
NM_000249.4(MLH1):c.2236_2247del (p.Leu746_Leu749del)
|
rs1575641243
|
|
NM_000249.4(MLH1):c.238T>G (p.Phe80Val)
|
rs63749990
|
|
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp)
|
rs267607727
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
NM_000249.4(MLH1):c.345_349del (p.Thr116fs)
|
rs2081714489
|
|
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)
|
rs63750781
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro)
|
rs63751448
|
|
NM_000249.4(MLH1):c.879C>G (p.Tyr293Ter)
|
|
|
NM_000249.4(MLH1):c.885-2A>C
|
rs267607805
|
|
NM_000249.4(MLH1):c.923A>C (p.His308Pro)
|
rs1559543768
|
|
NM_000249.4(MLH1):c.92C>A (p.Ala31Asp)
|
|
|
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)
|
rs876658657
|
|
NM_000249.4(MLH1):c.978GCA[2] (p.Gln328del)
|
rs2082985381
|
|
NM_000249.4(MLH1):c.988_990del (p.Ile330del)
|
rs63751197
|
|
NM_000251.2(MSH2):c.-82G>C
|
rs866991159
|
|
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)
|
rs63751004
|
|
NM_000251.3(MSH2):c.1012G>C (p.Gly338Arg)
|
rs63751004
|
|
NM_000251.3(MSH2):c.1013G>T (p.Gly338Val)
|
rs587779065
|
|
NM_000251.3(MSH2):c.1015C>T (p.Gln339Ter)
|
rs1558466577
|
|
NM_000251.3(MSH2):c.1023del (p.Val342fs)
|
rs864622340
|
|
NM_000251.3(MSH2):c.1031A>C (p.Gln344Pro)
|
rs1673078633
|
|
NM_000251.3(MSH2):c.1042del (p.Gln348fs)
|
rs1553353233
|
|
NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr)
|
rs267607939
|
|
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg)
|
rs587779067
|
|
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)
|
rs587779067
|
|
NM_000251.3(MSH2):c.1046_1047delinsGC (p.Pro349Arg)
|
rs1558466685
|
|
NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys)
|
rs753075410
|
|
NM_000251.3(MSH2):c.1075A>G (p.Arg359Gly)
|
|
|
NM_000251.3(MSH2):c.1076+1del
|
|
|
NM_000251.3(MSH2):c.1076+1dup
|
rs1673083690
|
|
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr)
|
rs63751604
|
|
NM_000251.3(MSH2):c.1076G>T (p.Arg359Ile)
|
rs63751604
|
|
NM_000251.3(MSH2):c.1098_1099insTC (p.Val367fs)
|
|
|
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter)
|
rs730881755
|
|
NM_000251.3(MSH2):c.1186del (p.Arg396fs)
|
|
|
NM_000251.3(MSH2):c.1272_1276+6del
|
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
NM_000251.3(MSH2):c.1276+1G>C
|
rs267607950
|
|
NM_000251.3(MSH2):c.1276+1G>T
|
rs267607950
|
|
NM_000251.3(MSH2):c.1276+2T>C
|
rs267607953
|
|
NM_000251.3(MSH2):c.1276G>A (p.Gly426Arg)
|
rs879254234
|
|
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg)
|
rs879254234
|
|
NM_000251.3(MSH2):c.1277-1G>A
|
rs267607948
|
|
NM_000251.3(MSH2):c.1277-1G>C
|
rs267607948
|
|
NM_000251.3(MSH2):c.1277-1G>T
|
rs267607948
|
|
NM_000251.3(MSH2):c.1277-2A>C
|
rs267607949
|
|
NM_000251.3(MSH2):c.1277-2A>G
|
rs267607949
|
|
NM_000251.3(MSH2):c.1319T>G (p.Leu440Arg)
|
rs587779084
|
|
NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs)
|
rs1553361231
|
|
NM_000251.3(MSH2):c.1361T>G (p.Ile454Arg)
|
rs1060502025
|
|
NM_000251.3(MSH2):c.1369A>C (p.Thr457Pro)
|
|
|
NM_000251.3(MSH2):c.1386+1G>A
|
rs267607957
|
|
NM_000251.3(MSH2):c.1386+1G>T
|
rs267607957
|
|
NM_000251.3(MSH2):c.1386+2T>C
|
rs1675076969
|
|
NM_000251.3(MSH2):c.1386+2T>G
|
|
|
NM_000251.3(MSH2):c.1387-2A>T
|
|
|
NM_000251.3(MSH2):c.1401del (p.Glu467fs)
|
rs1553365711
|
|
NM_000251.3(MSH2):c.1433T>G (p.Leu478Arg)
|
|
|
NM_000251.3(MSH2):c.1508T>C (p.Leu503Pro)
|
rs587779095
|
|
NM_000251.3(MSH2):c.1510+1G>A
|
rs1114167852
|
|
NM_000251.3(MSH2):c.1510+1G>C
|
|
|
NM_000251.3(MSH2):c.1510+1G>T
|
|
|
NM_000251.3(MSH2):c.1510+2T>A
|
|
|
NM_000251.3(MSH2):c.1510+2T>C
|
rs1060502023
|
|
NM_000251.3(MSH2):c.1510+2_1510+50del
|
rs1558508399
|
|
NM_000251.3(MSH2):c.1511-1G>A
|
rs267607964
|
|
NM_000251.3(MSH2):c.1511-2A>C
|
rs267607962
|
|
NM_000251.3(MSH2):c.1511-2A>G
|
rs267607962
|
|
NM_000251.3(MSH2):c.1527dup (p.Gln510fs)
|
|
|
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter)
|
rs63750330
|
|
NM_000251.3(MSH2):c.1568T>C (p.Phe523Ser)
|
rs587782587
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
NM_000251.3(MSH2):c.1613dup (p.Asn538fs)
|
|
|
NM_000251.3(MSH2):c.1636A>G (p.Lys546Glu)
|
|
|
NM_000251.3(MSH2):c.1654A>C (p.Thr552Pro)
|
rs63750838
|
|
NM_000251.3(MSH2):c.1659_1661+2delinsGAGGG
|
|
|
NM_000251.3(MSH2):c.1660A>C (p.Ser554Arg)
|
rs63751656
|
|
NM_000251.3(MSH2):c.1661+1G>A
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+1G>T
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+1del
|
|
|
NM_000251.3(MSH2):c.1661+5G>A
|
rs267607972
|
|
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)
|
rs63750597
|
|
NM_000251.3(MSH2):c.1661G>C (p.Ser554Thr)
|
rs63750597
|
|
NM_000251.3(MSH2):c.1662-1G>A
|
rs267607970
|
|
NM_000251.3(MSH2):c.1667T>G (p.Leu556Trp)
|
rs587779101
|
|
NM_000251.3(MSH2):c.1721A>C (p.Gln574Pro)
|
rs1667078647
|
|
NM_000251.3(MSH2):c.1760-1G>A
|
rs587779110
|
|
NM_000251.3(MSH2):c.1763_1764del (p.Tyr588fs)
|
rs1667229261
|
|
NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg)
|
rs786201590
|
|
NM_000251.3(MSH2):c.1807G>C (p.Asp603His)
|
rs63750657
|
|
NM_000251.3(MSH2):c.1807G>T (p.Asp603Tyr)
|
|
|
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly)
|
rs267607985
|
|
NM_000251.3(MSH2):c.1811C>A (p.Ala604Asp)
|
|
|
NM_000251.3(MSH2):c.1850_1851dup (p.Pro618fs)
|
rs1573566787
|
|
NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly)
|
rs63750508
|
|
NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr)
|
rs63750280
|
|
NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1906_2005+8del
|
|
|
NM_000251.3(MSH2):c.1942dup (p.Ile648fs)
|
|
|
NM_000251.3(MSH2):c.198del (p.Lys65_Tyr66insTer)
|
|
|
NM_000251.3(MSH2):c.2005+1G>A
|
rs267607986
|
|
NM_000251.3(MSH2):c.2005+1G>C
|
rs267607986
|
|
NM_000251.3(MSH2):c.2005+1G>T
|
rs267607986
|
|
NM_000251.3(MSH2):c.2005+2T>A
|
|
|
NM_000251.3(MSH2):c.2005+2T>C
|
rs267607987
|
|
NM_000251.3(MSH2):c.2005+2T>G
|
rs267607987
|
|
NM_000251.3(MSH2):c.2005+2del
|
rs587779124
|
|
NM_000251.3(MSH2):c.2005+2dup
|
rs541623924
|
|
NM_000251.3(MSH2):c.2006-1G>A
|
|
|
NM_000251.3(MSH2):c.2006-1G>C
|
rs267607988
|
|
NM_000251.3(MSH2):c.2006-1G>T
|
rs267607988
|
|
NM_000251.3(MSH2):c.2006-2A>G
|
rs267607991
|
|
NM_000251.3(MSH2):c.2006-4_2006-2delinsCT
|
|
|
NM_000251.3(MSH2):c.2006-6_2006-2delinsCTGTG
|
|
|
NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp)
|
rs63751640
|
|
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val)
|
rs63751640
|
|
NM_000251.3(MSH2):c.2010dup (p.Asn671fs)
|
rs63751123
|
|
NM_000251.3(MSH2):c.2011A>T (p.Asn671Tyr)
|
rs63751232
|
|
NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys)
|
rs587779127
|
|
NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg)
|
rs63750234
|
|
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp)
|
rs267607996
|
|
NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter)
|
|
|
NM_000251.3(MSH2):c.2027C>T (p.Ser676Leu)
|
rs1057520735
|
|
NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg)
|
rs876660711
|
|
NM_000251.3(MSH2):c.2039G>C (p.Arg680Pro)
|
rs1203462814
|
|
NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro)
|
rs1667302018
|
|
NM_000251.3(MSH2):c.2042_2045delinsCAAT (p.Gln681_Thr682delinsProIle)
|
|
|
NM_000251.3(MSH2):c.2054T>G (p.Ile685Arg)
|
rs1667303602
|
|
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)
|
rs587779133
|
|
NM_000251.3(MSH2):c.2060T>G (p.Leu687Arg)
|
|
|
NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro)
|
rs914610419
|
|
NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp)
|
rs1060502020
|
|
NM_000251.3(MSH2):c.2068C>A (p.Gln690Lys)
|
|
|
NM_000251.3(MSH2):c.2075G>T (p.Gly692Val)
|
rs63751432
|
|
NM_000251.3(MSH2):c.2078G>A (p.Cys693Tyr)
|
rs1057524909
|
|
NM_000251.3(MSH2):c.207_211+42del
|
rs1553348901
|
|
NM_000251.3(MSH2):c.2080T>A (p.Phe694Ile)
|
rs63751409
|
|
NM_000251.3(MSH2):c.2087C>G (p.Pro696Arg)
|
|
|
NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu)
|
rs267607994
|
|
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)
|
rs63750398
|
|
NM_000251.3(MSH2):c.2091T>G (p.Cys697Trp)
|
|
|
NM_000251.3(MSH2):c.2099C>A (p.Ala700Glu)
|
rs876658251
|
|
NM_000251.3(MSH2):c.209C>T (p.Ala70Val)
|
rs587782481
|
|
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu)
|
rs587779137
|
|
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)
|
rs587782659
|
|
NM_000251.3(MSH2):c.212-2A>G
|
rs267607917
|
|
NM_000251.3(MSH2):c.212-2A>T
|
rs267607917
|
|
NM_000251.3(MSH2):c.2123T>A (p.Ile708Asn)
|
rs63750108
|
|
NM_000251.3(MSH2):c.2132G>C (p.Arg711Pro)
|
rs138465383
|
|
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe)
|
rs63750794
|
|
NM_000251.3(MSH2):c.2181dup (p.Glu728Ter)
|
rs2104378200
|
|
NM_000251.3(MSH2):c.2194A>C (p.Thr732Pro)
|
|
|
NM_000251.3(MSH2):c.2210+1G>A
|
rs267608002
|
|
NM_000251.3(MSH2):c.2210+2T>A
|
|
|
NM_000251.3(MSH2):c.2211-10T>A
|
rs267608006
|
|
NM_000251.3(MSH2):c.2211-1G>A
|
rs267607979
|
|
NM_000251.3(MSH2):c.2211-1G>C
|
rs267607979
|
|
NM_000251.3(MSH2):c.2211-1G>T
|
rs267607979
|
|
NM_000251.3(MSH2):c.2211-2A>C
|
rs267608001
|
|
NM_000251.3(MSH2):c.2211-2A>G
|
rs267608001
|
|
NM_000251.3(MSH2):c.2211-2A>T
|
rs267608001
|
|
NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2236_2237dup (p.Ile747fs)
|
|
|
NM_000251.3(MSH2):c.2236_2241del (p.Ile746_Ile747del)
|
rs587779142
|
|
NM_000251.3(MSH2):c.2242G>C (p.Asp748His)
|
rs267608007
|
|
NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys)
|
rs63751477
|
|
NM_000251.3(MSH2):c.2246A>G (p.Glu749Gly)
|
|
|
NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg)
|
rs63751119
|
|
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg)
|
rs63751119
|
|
NM_000251.3(MSH2):c.2266A>C (p.Thr756Pro)
|
rs750646335
|
|
NM_000251.3(MSH2):c.2272G>T (p.Asp758Tyr)
|
rs876658254
|
|
NM_000251.3(MSH2):c.2276G>T (p.Gly759Val)
|
rs386833406
|
|
NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg)
|
rs1060502038
|
|
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg)
|
rs1060502038
|
|
NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro)
|
rs1318630651
|
|
NM_000251.3(MSH2):c.2290dup (p.Trp764fs)
|
rs2104402437
|
|
NM_000251.3(MSH2):c.2291_2297del (p.Trp764fs)
|
|
|
NM_000251.3(MSH2):c.2304del (p.Glu768fs)
|
rs587783053
|
|
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val)
|
rs775464903
|
|
NM_000251.3(MSH2):c.2342del (p.Ala781fs)
|
|
|
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)
|
rs1558521929
|
|
NM_000251.3(MSH2):c.2363_2364del (p.Thr788fs)
|
rs63750937
|
|
NM_000251.3(MSH2):c.2363del (p.Thr788fs)
|
rs2104405789
|
|
NM_000251.3(MSH2):c.2365del (p.Ala789fs)
|
|
|
NM_000251.3(MSH2):c.2367del (p.Leu790fs)
|
rs1667397201
|
|
NM_000251.3(MSH2):c.2399T>C (p.Leu800Pro)
|
|
|
NM_000251.3(MSH2):c.239T>C (p.Leu80Pro)
|
|
|
NM_000251.3(MSH2):c.2402A>C (p.His801Pro)
|
rs1114167875
|
|
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)
|
rs202145681
|
|
NM_000251.3(MSH2):c.2458+1G>A
|
rs267608010
|
|
NM_000251.3(MSH2):c.2458+1G>C
|
|
|
NM_000251.3(MSH2):c.2458+1G>T
|
rs267608010
|
|
NM_000251.3(MSH2):c.2459-12A>G
|
rs267608012
|
|
NM_000251.3(MSH2):c.2459-1G>A
|
rs1060501991
|
|
NM_000251.3(MSH2):c.2459-1G>C
|
rs1060501991
|
|
NM_000251.3(MSH2):c.2459-1G>T
|
|
|
NM_000251.3(MSH2):c.2459-2A>C
|
|
|
NM_000251.3(MSH2):c.2459-2A>G
|
rs267608011
|
|
NM_000251.3(MSH2):c.2551_2552insCA (p.Leu851fs)
|
rs1553370381
|
|
NM_000251.3(MSH2):c.2562del (p.Gln855fs)
|
rs1114167836
|
|
NM_000251.3(MSH2):c.2634+5G>C
|
rs267608017
|
|
NM_000251.3(MSH2):c.2634+5G>T
|
rs267608017
|
|
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp)
|
rs63751624
|
|
NM_000251.3(MSH2):c.2635-1G>A
|
rs267608020
|
|
NM_000251.3(MSH2):c.2635-1G>C
|
rs267608020
|
|
NM_000251.3(MSH2):c.2635-1G>T
|
rs267608020
|
|
NM_000251.3(MSH2):c.2635-24A>G
|
rs1667575488
|
|
NM_000251.3(MSH2):c.2635-2A>G
|
rs1114167818
|
|
NM_000251.3(MSH2):c.2635-2del
|
|
|
NM_000251.3(MSH2):c.2637del (p.Gly880fs)
|
|
|
NM_000251.3(MSH2):c.2680dup (p.Met894fs)
|
rs876658211
|
|
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)
|
rs587779157
|
|
NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)
|
rs1553350250
|
|
NM_000251.3(MSH2):c.356T>A (p.Leu119Ter)
|
rs1573437173
|
|
NM_000251.3(MSH2):c.366+1G>A
|
rs267607924
|
|
NM_000251.3(MSH2):c.366+1G>C
|
|
|
NM_000251.3(MSH2):c.366+1G>T
|
rs267607924
|
|
NM_000251.3(MSH2):c.367-1G>A
|
rs267607925
|
|
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)
|
rs1060501989
|
|
NM_000251.3(MSH2):c.443T>A (p.Val148Glu)
|
rs1553350714
|
|
NM_000251.3(MSH2):c.448_449del (p.Gly149_Val150insTer)
|
|
|
NM_000251.3(MSH2):c.482T>A (p.Val161Asp)
|
rs63750126
|
|
NM_000251.3(MSH2):c.490G>A (p.Gly164Arg)
|
rs63750582
|
|
NM_000251.3(MSH2):c.491G>A (p.Gly164Glu)
|
rs786204082
|
|
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro)
|
rs63751291
|
|
NM_000251.3(MSH2):c.524del (p.Leu175fs)
|
|
|
NM_000251.3(MSH2):c.560T>G (p.Leu187Arg)
|
rs63751444
|
|
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del)
|
rs63750088
|
|
NM_000251.3(MSH2):c.592G>A (p.Glu198Lys)
|
rs587779166
|
|
NM_000251.3(MSH2):c.596G>A (p.Cys199Tyr)
|
rs63751136
|
|
NM_000251.3(MSH2):c.640_645+1del
|
|
|
NM_000251.3(MSH2):c.642_645+3delinsCAAATTG
|
|
|
NM_000251.3(MSH2):c.645+1G>T
|
rs267607689
|
|
NM_000251.3(MSH2):c.646-2A>C
|
rs587779169
|
|
NM_000251.3(MSH2):c.646-2A>G
|
rs587779169
|
|
NM_000251.3(MSH2):c.646-5_655del
|
|
|
NM_000251.3(MSH2):c.659_661delinsAAT (p.Gly220_Gly221delinsGluTer)
|
|
|
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)
|
rs864622183
|
|
NM_000251.3(MSH2):c.793-1G>C
|
|
|
NM_000251.3(MSH2):c.793-1G>T
|
|
|
NM_000251.3(MSH2):c.793-2A>G
|
rs267607933
|
|
NM_000251.3(MSH2):c.793-2A>T
|
|
|
NM_000251.3(MSH2):c.802_803insGT (p.Ser268fs)
|
|
|
NM_000251.3(MSH2):c.806C>A (p.Ser269Ter)
|
rs63750058
|
|
NM_000251.3(MSH2):c.809T>C (p.Leu270Pro)
|
rs1573451078
|
|
NM_000251.3(MSH2):c.809T>G (p.Leu270Arg)
|
|
|
NM_000251.3(MSH2):c.845_848del (p.Asp282fs)
|
rs1553352462
|
|
NM_000251.3(MSH2):c.866_867dup (p.Glu290fs)
|
rs1672951706
|
|
NM_000251.3(MSH2):c.870_874del (p.Glu290fs)
|
rs1114167848
|
|
NM_000251.3(MSH2):c.942+1del
|
rs1194793421
|
|
NM_000251.3(MSH2):c.942+3A>C
|
rs193922376
|
|
NM_000251.3(MSH2):c.942+3A>G
|
rs193922376
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
NM_000251.3(MSH2):c.943-51_988del
|
|
|
NM_000251.3(MSH2):c.943-8_943del
|
|
|
NM_000251.3(MSH2):c.989T>G (p.Leu330Arg)
|
|
|
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe)
|
rs63750828
|
|
NM_000251.3(MSH2):c.999T>G (p.Cys333Trp)
|
rs1553353167
|
|
NM_000535.7(PMS2):c.1666del (p.Glu556fs)
|
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.678_681dup (p.Gly228fs)
|
rs1562677687
|
|
NM_002354.3(EPCAM):c.904-1_904del
|
rs2103770769
|
|
NM_007194.4(CHEK2):c.1189del (p.Val397fs)
|
|
|
NM_024675.4(PALB2):c.3314_3315del (p.Val1105fs)
|
rs2142271759
|
|