NM_000368.5(TSC1):c.2626-3C>T
|
rs1060503192
|
0.00608
|
NM_174936.4(PCSK9):c.720C>T (p.Gly240=)
|
rs41297883
|
0.00500
|
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)
|
rs74085882
|
0.00430
|
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)
|
rs145910245
|
0.00349
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00282
|
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln)
|
rs137934837
|
0.00216
|
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr)
|
rs147012990
|
0.00207
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu)
|
rs41311117
|
0.00192
|
NM_000384.3(APOB):c.905-16A>C
|
rs12720810
|
0.00172
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)
|
rs144157950
|
0.00165
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)
|
rs148623597
|
0.00137
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
0.00135
|
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)
|
rs139956524
|
0.00135
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_000527.5(LDLR):c.*19G>A
|
rs56270417
|
0.00117
|
NM_000527.5(LDLR):c.858C>T (p.Ser286=)
|
rs140241383
|
0.00116
|
NM_000540.3(RYR1):c.725+6G>A
|
rs201679831
|
0.00111
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00104
|
NM_001943.5(DSG2):c.221A>G (p.His74Arg)
|
rs201855245
|
0.00104
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
NM_000169.3(GLA):c.8T>C (p.Leu3Pro)
|
rs150547672
|
0.00098
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
NM_005359.6(SMAD4):c.787+1_788-1del
|
rs1599189646
|
0.00095
|
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe)
|
rs147707463
|
0.00085
|
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)
|
rs144338227
|
0.00083
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)
|
rs140689610
|
0.00079
|
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln)
|
rs143275858
|
0.00078
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=)
|
rs200950362
|
0.00073
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys)
|
rs145886902
|
0.00067
|
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr)
|
rs45563942
|
0.00066
|
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)
|
rs148195424
|
0.00066
|
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu)
|
rs41276525
|
0.00065
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys)
|
rs199473505
|
0.00063
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile)
|
rs151325948
|
0.00061
|
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)
|
rs140852019
|
0.00060
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)
|
rs34390345
|
0.00058
|
NM_000335.5(SCN5A):c.568C>G (p.Arg190Gly)
|
rs199473068
|
0.00057
|
NM_000540.3(RYR1):c.2091C>T (p.Ala697=)
|
rs138704724
|
0.00057
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)
|
rs61746358
|
0.00056
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met)
|
rs72646510
|
0.00055
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg)
|
rs147509697
|
0.00053
|
NM_000069.3(CACNA1S):c.-4A>G
|
rs200408018
|
0.00050
|
NM_000465.4(BARD1):c.144G>A (p.Leu48=)
|
rs151168457
|
0.00050
|
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser)
|
rs146166400
|
0.00049
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser)
|
rs41311127
|
0.00048
|
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met)
|
rs145044872
|
0.00046
|
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro)
|
rs149141477
|
0.00046
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro)
|
rs148069478
|
0.00045
|
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
|
rs186906598
|
0.00045
|
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)
|
rs142410803
|
0.00045
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=)
|
rs370346797
|
0.00043
|
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=)
|
rs145434723
|
0.00043
|
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile)
|
rs45471994
|
0.00041
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
NM_004656.4(BAP1):c.905C>T (p.Pro302Leu)
|
rs149158790
|
0.00041
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)
|
rs150264233
|
0.00040
|
NM_000527.5(LDLR):c.2055G>A (p.Pro685=)
|
rs149126953
|
0.00040
|
NM_000038.6(APC):c.2847G>T (p.Met949Ile)
|
rs147394539
|
0.00039
|
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)
|
rs534960245
|
0.00038
|
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met)
|
rs199473600
|
0.00038
|
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)
|
rs587776399
|
0.00038
|
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)
|
rs34938432
|
0.00037
|
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr)
|
rs151119428
|
0.00037
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)
|
rs200587641
|
0.00036
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
NM_002474.3(MYH11):c.5271C>A (p.Asp1757Glu)
|
rs146043349
|
0.00036
|
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr)
|
rs147710374
|
0.00036
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
NM_000535.7(PMS2):c.1864A>G (p.Met622Val)
|
rs370853512
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00034
|
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg)
|
rs199473182
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
0.00034
|
NM_032043.3(BRIP1):c.380-17T>A
|
rs200050729
|
0.00034
|
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr)
|
rs369704754
|
0.00033
|
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile)
|
rs138059405
|
0.00033
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000069.3(CACNA1S):c.540T>C (p.Pro180=)
|
rs138245131
|
0.00032
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=)
|
rs145446438
|
0.00031
|
NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val)
|
rs142654744
|
0.00031
|
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu)
|
rs148621523
|
0.00031
|
NM_000546.6(TP53):c.173C>G (p.Pro58Arg)
|
rs144386518
|
0.00030
|
NM_001048174.2(MUTYH):c.116-54C>T
|
rs367908623
|
0.00030
|
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)
|
rs201666889
|
0.00029
|
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)
|
rs3092831
|
0.00029
|
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)
|
rs199473183
|
0.00029
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=)
|
rs200780880
|
0.00029
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
NM_000038.6(APC):c.2593C>T (p.Pro865Ser)
|
rs192620988
|
0.00028
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)
|
rs397515922
|
0.00026
|
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln)
|
rs199473331
|
0.00026
|
NM_000527.5(LDLR):c.1875C>T (p.Asn625=)
|
rs137853962
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
NM_001035.3(RYR2):c.2574G>A (p.Thr858=)
|
rs367992907
|
0.00025
|
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser)
|
rs201676898
|
0.00025
|
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)
|
rs201845641
|
0.00025
|
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser)
|
rs185057307
|
0.00025
|
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=)
|
rs202061237
|
0.00024
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_000138.5(FBN1):c.6314-15G>A
|
rs200841830
|
0.00023
|
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu)
|
rs199473436
|
0.00023
|
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)
|
rs200756935
|
0.00022
|
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)
|
rs2235011
|
0.00022
|
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)
|
rs146243469
|
0.00022
|
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His)
|
rs146179135
|
0.00022
|
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly)
|
rs76649554
|
0.00022
|
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=)
|
rs374630822
|
0.00022
|
NM_000051.4(ATM):c.4871A>G (p.His1624Arg)
|
rs56354559
|
0.00021
|
NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile)
|
rs199473618
|
0.00021
|
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)
|
rs367890377
|
0.00021
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
NM_002474.3(MYH11):c.1078G>A (p.Val360Ile)
|
rs111677442
|
0.00021
|
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)
|
rs565502802
|
0.00021
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)
|
rs80357147
|
0.00021
|
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met)
|
rs148056866
|
0.00021
|
NM_000059.4(BRCA2):c.5020A>G (p.Ser1674Gly)
|
rs80358725
|
0.00020
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn)
|
rs376736293
|
0.00020
|
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe)
|
rs369588942
|
0.00020
|
NM_000051.4(ATM):c.2495G>A (p.Arg832His)
|
rs199875915
|
0.00019
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)
|
rs35962982
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=)
|
rs187343742
|
0.00019
|
NM_000335.5(SCN5A):c.3228+6C>G
|
rs368048551
|
0.00019
|
NM_000335.5(SCN5A):c.998+5G>A
|
rs187531872
|
0.00019
|
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn)
|
rs145629242
|
0.00019
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)
|
rs201312753
|
0.00019
|
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu)
|
rs111513627
|
0.00019
|
NM_032043.3(BRIP1):c.380-5A>G
|
rs587782131
|
0.00019
|
NM_174936.4(PCSK9):c.996+8del
|
rs768213924
|
0.00019
|
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
NM_000038.6(APC):c.6637A>G (p.Met2213Val)
|
rs186926737
|
0.00018
|
NM_000138.5(FBN1):c.3590-8T>C
|
rs140600
|
0.00018
|
NM_000138.5(FBN1):c.902G>T (p.Gly301Val)
|
rs142888621
|
0.00018
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met)
|
rs199473333
|
0.00018
|
NM_000455.5(STK11):c.618G>A (p.Ala206=)
|
rs370976710
|
0.00018
|
NM_000540.3(RYR1):c.4294-4C>T
|
rs368108496
|
0.00018
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00017
|
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln)
|
rs369678002
|
0.00017
|
NM_000335.5(SCN5A):c.80G>A (p.Arg27His)
|
rs199473045
|
0.00017
|
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)
|
rs140804406
|
0.00017
|
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser)
|
rs151163793
|
0.00016
|
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)
|
rs201309310
|
0.00016
|
NM_000179.3(MSH6):c.866G>A (p.Gly289Asp)
|
rs368318845
|
0.00016
|
NM_000238.4(KCNH2):c.431A>T (p.Asp144Val)
|
rs146284716
|
0.00016
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000335.5(SCN5A):c.5334G>A (p.Thr1778=)
|
rs41311121
|
0.00016
|
NM_000527.5(LDLR):c.564C>T (p.Tyr188=)
|
rs121908034
|
0.00016
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys)
|
rs147480076
|
0.00016
|
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)
|
rs147605116
|
0.00016
|
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val)
|
rs185720909
|
0.00016
|
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=)
|
rs771742318
|
0.00016
|
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile)
|
rs202094530
|
0.00016
|
NM_005902.4(SMAD3):c.984G>A (p.Pro328=)
|
rs150994304
|
0.00016
|
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser)
|
rs373876101
|
0.00016
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
NM_058216.3(RAD51C):c.744T>C (p.Phe248=)
|
rs150142859
|
0.00016
|
NM_000051.4(ATM):c.2887A>G (p.Met963Val)
|
rs374353016
|
0.00015
|
NM_000059.4(BRCA2):c.2813C>A (p.Ala938Glu)
|
rs55773834
|
0.00015
|
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=)
|
rs140396599
|
0.00015
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000138.5(FBN1):c.863-3C>T
|
rs955955089
|
0.00015
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)
|
rs146017595
|
0.00014
|
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala)
|
rs142455912
|
0.00014
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=)
|
rs779913610
|
0.00014
|
NM_000138.5(FBN1):c.5917+3A>G
|
rs202158568
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)
|
rs201118107
|
0.00014
|
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)
|
rs377403073
|
0.00014
|
NM_000257.4(MYH7):c.4170-8C>A
|
rs199632504
|
0.00014
|
NM_000465.4(BARD1):c.279A>G (p.Gln93=)
|
rs370000575
|
0.00014
|
NM_000546.6(TP53):c.869G>A (p.Arg290His)
|
rs55819519
|
0.00014
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=)
|
rs757501817
|
0.00014
|
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn)
|
rs138800446
|
0.00014
|
NM_007194.4(CHEK2):c.-4C>T
|
rs374938148
|
0.00014
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
NM_017668.3(NDE1):c.990G>A (p.Arg330=)
|
rs143588920
|
0.00014
|
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)
|
rs145513717
|
0.00013
|
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr)
|
rs139289704
|
0.00013
|
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg)
|
rs142243359
|
0.00013
|
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)
|
rs763702846
|
0.00013
|
NM_000218.3(KCNQ1):c.759C>T (p.Ser253=)
|
rs752457145
|
0.00013
|
NM_000268.4(NF2):c.1439C>T (p.Thr480Met)
|
rs145666157
|
0.00013
|
NM_000335.5(SCN5A):c.1891-8G>A
|
rs12720064
|
0.00013
|
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser)
|
rs138593305
|
0.00013
|
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val)
|
rs555292896
|
0.00013
|
NM_000540.3(RYR1):c.11517C>T (p.Ser3839=)
|
rs151239950
|
0.00013
|
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)
|
rs397516524
|
0.00013
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)
|
rs200794097
|
0.00012
|
NM_000335.5(SCN5A):c.4908C>T (p.Ile1636=)
|
rs200569112
|
0.00012
|
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys)
|
rs376042544
|
0.00012
|
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile)
|
rs370864592
|
0.00012
|
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg)
|
rs576538858
|
0.00012
|
NM_000038.6(APC):c.277C>G (p.Leu93Val)
|
rs201567345
|
0.00011
|
NM_000038.6(APC):c.3875C>T (p.Thr1292Met)
|
rs371113837
|
0.00011
|
NM_000038.6(APC):c.7621A>G (p.Ile2541Val)
|
rs587778033
|
0.00011
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
NM_000138.5(FBN1):c.1821T>C (p.Asp607=)
|
rs149133920
|
0.00011
|
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=)
|
rs760425899
|
0.00011
|
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)
|
rs34014629
|
0.00011
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
NM_000179.3(MSH6):c.942C>G (p.Ser314Arg)
|
rs150440246
|
0.00011
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00011
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
NM_000251.3(MSH2):c.1387-4G>C
|
rs376796243
|
0.00011
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)
|
rs63750684
|
0.00011
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
NM_000527.5(LDLR):c.2389+8C>T
|
rs747170426
|
0.00011
|
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His)
|
rs370236216
|
0.00011
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp)
|
rs146388001
|
0.00011
|
NM_004329.3(BMPR1A):c.98C>G (p.Thr33Ser)
|
rs142454490
|
0.00011
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
0.00011
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr)
|
rs70953661
|
0.00011
|
NM_007294.4(BRCA1):c.693G>A (p.Thr231=)
|
rs62625298
|
0.00011
|
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn)
|
rs55975699
|
0.00011
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_000038.6(APC):c.388A>G (p.Ser130Gly)
|
rs150973053
|
0.00010
|
NM_000051.4(ATM):c.6572+11C>T
|
rs368049107
|
0.00010
|
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)
|
rs377648506
|
0.00010
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)
|
rs200434921
|
0.00010
|
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00010
|
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=)
|
rs368980118
|
0.00010
|
NM_000540.3(RYR1):c.14670G>C (p.Val4890=)
|
rs773080803
|
0.00010
|
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)
|
rs564930066
|
0.00010
|
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln)
|
rs746211825
|
0.00010
|
NM_005359.6(SMAD4):c.424+5G>A
|
rs200772603
|
0.00010
|
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu)
|
rs45619737
|
0.00010
|
NM_000038.6(APC):c.6525A>G (p.Thr2175=)
|
rs200151646
|
0.00009
|
NM_000038.6(APC):c.95A>G (p.Asn32Ser)
|
rs539108537
|
0.00009
|
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)
|
rs2229021
|
0.00009
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)
|
rs587778079
|
0.00009
|
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)
|
rs80359069
|
0.00009
|
NM_000138.5(FBN1):c.1345G>A (p.Val449Ile)
|
rs139058991
|
0.00009
|
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)
|
rs587778531
|
0.00009
|
NM_000179.3(MSH6):c.3439-10T>A
|
rs730881819
|
0.00009
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)
|
rs587779074
|
0.00009
|
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val)
|
rs121913644
|
0.00009
|
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn)
|
rs199473599
|
0.00009
|
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu)
|
rs587782333
|
0.00009
|
NM_000465.4(BARD1):c.2116A>G (p.Lys706Glu)
|
rs149262370
|
0.00009
|
NM_000527.5(LDLR):c.1586+15C>T
|
rs371716068
|
0.00009
|
NM_000535.7(PMS2):c.993C>T (p.Cys331=)
|
rs186577215
|
0.00009
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln)
|
rs140156029
|
0.00009
|
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp)
|
rs144421849
|
0.00009
|
NM_002474.3(MYH11):c.5277C>T (p.Val1759=)
|
rs112564682
|
0.00009
|
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met)
|
rs55932635
|
0.00009
|
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=)
|
rs535411352
|
0.00009
|
NM_005902.4(SMAD3):c.885G>A (p.Arg295=)
|
rs139616052
|
0.00009
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
NM_000038.6(APC):c.7471A>G (p.Met2491Val)
|
rs375674083
|
0.00008
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
NM_000335.5(SCN5A):c.3536C>T (p.Ala1179Val)
|
rs41310765
|
0.00008
|
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu)
|
rs199473638
|
0.00008
|
NM_000527.5(LDLR):c.2358C>T (p.Ser786=)
|
rs183255090
|
0.00008
|
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile)
|
rs373611083
|
0.00008
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_000535.7(PMS2):c.735G>T (p.Leu245=)
|
rs373366661
|
0.00008
|
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=)
|
rs368684717
|
0.00008
|
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp)
|
rs751551400
|
0.00008
|
NM_002474.3(MYH11):c.3293+5C>T
|
rs766421052
|
0.00008
|
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg)
|
rs201313861
|
0.00008
|
NM_007194.4(CHEK2):c.1259+8A>G
|
rs368388249
|
0.00008
|
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala)
|
rs562517792
|
0.00008
|
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro)
|
rs273900712
|
0.00008
|
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly)
|
rs754797146
|
0.00008
|
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys)
|
rs375699023
|
0.00008
|
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr)
|
rs146218439
|
0.00008
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
0.00008
|
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)
|
rs376619846
|
0.00008
|
NM_000038.6(APC):c.7717A>G (p.Ile2573Val)
|
rs145444830
|
0.00007
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro)
|
rs572782576
|
0.00007
|
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)
|
rs431825302
|
0.00007
|
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)
|
rs730881787
|
0.00007
|
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu)
|
rs199472864
|
0.00007
|
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
|
rs267607939
|
0.00007
|
NM_000251.3(MSH2):c.1087G>T (p.Val363Leu)
|
rs377345366
|
0.00007
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His)
|
rs374255381
|
0.00007
|
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala)
|
rs373888280
|
0.00007
|
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)
|
rs63751211
|
0.00007
|
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=)
|
rs201412035
|
0.00007
|
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr)
|
rs138863103
|
0.00007
|
NM_002878.4(RAD51D):c.394G>A (p.Val132Ile)
|
rs201141245
|
0.00007
|
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val)
|
rs200951235
|
0.00007
|
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu)
|
rs201084748
|
0.00007
|
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met)
|
rs80357001
|
0.00007
|
NM_024675.4(PALB2):c.2100A>T (p.Ser700=)
|
rs757145884
|
0.00007
|
NM_000038.6(APC):c.2719G>C (p.Gly907Arg)
|
rs771458366
|
0.00006
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
0.00006
|
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
|
rs148275069
|
0.00006
|
NM_000038.6(APC):c.5774C>A (p.Pro1925His)
|
rs762682111
|
0.00006
|
NM_000038.6(APC):c.7574G>A (p.Arg2525His)
|
rs762034315
|
0.00006
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
NM_000051.4(ATM):c.3588A>G (p.Lys1196=)
|
rs376524625
|
0.00006
|
NM_000051.4(ATM):c.3614G>A (p.Arg1205His)
|
rs769106895
|
0.00006
|
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)
|
rs587782195
|
0.00006
|
NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile)
|
rs80358716
|
0.00006
|
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg)
|
rs371067421
|
0.00006
|
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr)
|
rs80358930
|
0.00006
|
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys)
|
rs28897705
|
0.00006
|
NM_000059.4(BRCA2):c.9454G>A (p.Glu3152Lys)
|
rs80359218
|
0.00006
|
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=)
|
rs148918486
|
0.00006
|
NM_000138.5(FBN1):c.1316G>A (p.Arg439Gln)
|
rs568810058
|
0.00006
|
NM_000138.5(FBN1):c.6164-3C>T
|
rs571365493
|
0.00006
|
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser)
|
rs756295016
|
0.00006
|
NM_000138.5(FBN1):c.8310C>T (p.His2770=)
|
rs112189340
|
0.00006
|
NM_000179.3(MSH6):c.643G>A (p.Val215Ile)
|
rs145959653
|
0.00006
|
NM_000218.3(KCNQ1):c.1733-3T>C
|
rs372912362
|
0.00006
|
NM_000218.3(KCNQ1):c.1733-7C>G
|
rs367568223
|
0.00006
|
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys)
|
rs201627778
|
0.00006
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
NM_000249.4(MLH1):c.552A>T (p.Ser184=)
|
rs35225190
|
0.00006
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
NM_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
0.00006
|
NM_000257.4(MYH7):c.1000-7C>T
|
rs200129563
|
0.00006
|
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=)
|
rs200868190
|
0.00006
|
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)
|
rs199473592
|
0.00006
|
NM_000335.5(SCN5A):c.3094G>A (p.Glu1032Lys)
|
rs369565476
|
0.00006
|
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)
|
rs199473044
|
0.00006
|
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)
|
rs137854619
|
0.00006
|
NM_000335.5(SCN5A):c.5828G>A (p.Arg1943Gln)
|
rs767089602
|
0.00006
|
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln)
|
rs753479021
|
0.00006
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00006
|
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)
|
rs200359745
|
0.00006
|
NM_000527.5(LDLR):c.1359-3C>T
|
rs775657243
|
0.00006
|
NM_000527.5(LDLR):c.1846-10G>T
|
rs368243304
|
0.00006
|
NM_000527.5(LDLR):c.1988-5C>G
|
rs375877599
|
0.00006
|
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn)
|
rs138190838
|
0.00006
|
NM_000527.5(LDLR):c.344G>A (p.Arg115His)
|
rs201102461
|
0.00006
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly)
|
rs143235330
|
0.00006
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
NM_000540.3(RYR1):c.2844C>T (p.Asn948=)
|
rs761045773
|
0.00006
|
NM_001035.3(RYR2):c.10725+4A>T
|
rs116444428
|
0.00006
|
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln)
|
rs369677603
|
0.00006
|
NM_002474.3(MYH11):c.4096A>G (p.Ile1366Val)
|
rs147127121
|
0.00006
|
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp)
|
rs770250516
|
0.00006
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp)
|
rs587780119
|
0.00006
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile)
|
rs587782770
|
0.00006
|
NM_007294.4(BRCA1):c.1802A>G (p.His601Arg)
|
rs371631805
|
0.00006
|
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)
|
rs144857453
|
0.00006
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
NM_024675.4(PALB2):c.560C>A (p.Pro187His)
|
rs371582757
|
0.00006
|
NM_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00006
|
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly)
|
rs587781383
|
0.00006
|
NM_000038.6(APC):c.2438A>G (p.Asn813Ser)
|
rs201522866
|
0.00005
|
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)
|
rs587782397
|
0.00005
|
NM_000051.4(ATM):c.3016A>G (p.Met1006Val)
|
rs139893395
|
0.00005
|
NM_000059.4(BRCA2):c.2884C>T (p.His962Tyr)
|
rs755777807
|
0.00005
|
NM_000059.4(BRCA2):c.695A>G (p.Tyr232Cys)
|
rs372188754
|
0.00005
|
NM_000059.4(BRCA2):c.8755-9T>C
|
rs397507413
|
0.00005
|
NM_000059.4(BRCA2):c.9353T>C (p.Met3118Thr)
|
rs56204128
|
0.00005
|
NM_000138.5(FBN1):c.7820-4G>A
|
rs750036723
|
0.00005
|
NM_000169.3(GLA):c.755G>C (p.Arg252Thr)
|
rs147026639
|
0.00005
|
NM_000179.3(MSH6):c.147C>T (p.Ala49=)
|
rs768803986
|
0.00005
|
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)
|
rs201518545
|
0.00005
|
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)
|
rs730881793
|
0.00005
|
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)
|
rs375459388
|
0.00005
|
NM_000256.3(MYBPC3):c.3190+4C>T
|
rs571457875
|
0.00005
|
NM_000256.3(MYBPC3):c.534G>T (p.Val178=)
|
rs759249105
|
0.00005
|
NM_000335.5(SCN5A):c.2957G>A (p.Arg986Gln)
|
rs41313667
|
0.00005
|
NM_000335.5(SCN5A):c.3359C>T (p.Ala1120Val)
|
rs751938579
|
0.00005
|
NM_000335.5(SCN5A):c.3664-7T>A
|
rs373156650
|
0.00005
|
NM_000335.5(SCN5A):c.4811-5C>T
|
rs765962519
|
0.00005
|
NM_000465.4(BARD1):c.-4G>A
|
rs761863671
|
0.00005
|
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala)
|
rs587780017
|
0.00005
|
NM_000465.4(BARD1):c.709C>G (p.Gln237Glu)
|
rs587780035
|
0.00005
|
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val)
|
rs13306505
|
0.00005
|
NM_000527.5(LDLR):c.861C>T (p.Gly287=)
|
rs770191650
|
0.00005
|
NM_000535.7(PMS2):c.-4A>G
|
rs544503598
|
0.00005
|
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=)
|
rs201157293
|
0.00005
|
NM_000540.3(RYR1):c.2835G>A (p.Ala945=)
|
rs576990255
|
0.00005
|
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln)
|
rs768140376
|
0.00005
|
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)
|
rs377119288
|
0.00005
|
NM_005902.4(SMAD3):c.401-7C>T
|
rs774268232
|
0.00005
|
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln)
|
rs139669564
|
0.00005
|
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser)
|
rs730881244
|
0.00004
|
NM_000038.6(APC):c.6639G>A (p.Met2213Ile)
|
rs35540155
|
0.00004
|
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
|
rs138137162
|
0.00004
|
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn)
|
rs369721828
|
0.00004
|
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)
|
rs201719927
|
0.00004
|
NM_000051.4(ATM):c.1888G>A (p.Val630Met)
|
rs148191382
|
0.00004
|
NM_000051.4(ATM):c.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)
|
rs587781545
|
0.00004
|
NM_000051.4(ATM):c.3154-5C>T
|
rs55719759
|
0.00004
|
NM_000051.4(ATM):c.3378A>G (p.Lys1126=)
|
rs149182949
|
0.00004
|
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)
|
rs587779841
|
0.00004
|
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)
|
rs3218670
|
0.00004
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)
|
rs80358548
|
0.00004
|
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys)
|
rs375125172
|
0.00004
|
NM_000059.4(BRCA2):c.3749A>G (p.Glu1250Gly)
|
rs56400215
|
0.00004
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly)
|
rs756105620
|
0.00004
|
NM_000059.4(BRCA2):c.8755-19A>G
|
rs398122713
|
0.00004
|
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys)
|
rs80359237
|
0.00004
|
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg)
|
rs756750256
|
0.00004
|
NM_000138.5(FBN1):c.1602T>C (p.Cys534=)
|
rs377386372
|
0.00004
|
NM_000138.5(FBN1):c.1837+4C>T
|
rs199950267
|
0.00004
|
NM_000138.5(FBN1):c.1884C>T (p.Cys628=)
|
rs150421653
|
0.00004
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=)
|
rs141219664
|
0.00004
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)
|
rs200938360
|
0.00004
|
NM_000179.3(MSH6):c.1974G>A (p.Val658=)
|
rs372916347
|
0.00004
|
NM_000179.3(MSH6):c.3801+5G>A
|
rs201080919
|
0.00004
|
NM_000218.3(KCNQ1):c.1945G>A (p.Asp649Asn)
|
rs781333509
|
0.00004
|
NM_000238.4(KCNH2):c.1128+1869C>T
|
rs62492438
|
0.00004
|
NM_000238.4(KCNH2):c.1128+1884G>A
|
rs765679790
|
0.00004
|
NM_000238.4(KCNH2):c.2398+156G>A
|
rs139247073
|
0.00004
|
NM_000238.4(KCNH2):c.2793G>A (p.Pro931=)
|
rs200976506
|
0.00004
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00004
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
NM_000251.3(MSH2):c.183G>T (p.Gln61His)
|
rs751082926
|
0.00004
|
NM_000251.3(MSH2):c.2211-6C>A
|
rs267608003
|
0.00004
|
NM_000251.3(MSH2):c.2516A>G (p.His839Arg)
|
rs63750027
|
0.00004
|
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser)
|
rs199473552
|
0.00004
|
NM_000335.5(SCN5A):c.1914C>T (p.Gly638=)
|
rs764488677
|
0.00004
|
NM_000335.5(SCN5A):c.1915G>A (p.Gly639Arg)
|
rs199473136
|
0.00004
|
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=)
|
rs878911306
|
0.00004
|
NM_000335.5(SCN5A):c.3204C>T (p.Gly1068=)
|
rs1464663200
|
0.00004
|
NM_000335.5(SCN5A):c.435C>T (p.Cys145=)
|
rs587781159
|
0.00004
|
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val)
|
rs199473561
|
0.00004
|
NM_000368.5(TSC1):c.2922C>T (p.Leu974=)
|
rs769389702
|
0.00004
|
NM_000455.5(STK11):c.1109-3C>T
|
rs864622219
|
0.00004
|
NM_000465.4(BARD1):c.160A>G (p.Thr54Ala)
|
rs200254470
|
0.00004
|
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)
|
rs142864491
|
0.00004
|
NM_000465.4(BARD1):c.581G>A (p.Arg194Lys)
|
rs181748854
|
0.00004
|
NM_000527.5(LDLR):c.1279A>C (p.Arg427=)
|
rs371355878
|
0.00004
|
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile)
|
rs5932
|
0.00004
|
NM_000527.5(LDLR):c.190T>C (p.Leu64=)
|
rs761629258
|
0.00004
|
NM_000527.5(LDLR):c.1988-13T>G
|
rs200201131
|
0.00004
|
NM_000527.5(LDLR):c.2575G>A (p.Val859Met)
|
rs202049029
|
0.00004
|
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)
|
rs540287433
|
0.00004
|
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu)
|
rs199700509
|
0.00004
|
NM_000535.7(PMS2):c.591C>T (p.Gly197=)
|
rs748518694
|
0.00004
|
NM_000535.7(PMS2):c.961G>A (p.Val321Ile)
|
rs377043696
|
0.00004
|
NM_001018005.2(TPM1):c.851+7G>A
|
rs765721221
|
0.00004
|
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=)
|
rs369323506
|
0.00004
|
NM_001276345.2(TNNT2):c.720-7C>T
|
rs376303087
|
0.00004
|
NM_001943.5(DSG2):c.1920C>T (p.Gly640=)
|
rs775642244
|
0.00004
|
NM_002878.4(RAD51D):c.145-13G>T
|
rs760867838
|
0.00004
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=)
|
rs768508812
|
0.00004
|
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys)
|
rs587782578
|
0.00004
|
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)
|
rs587782549
|
0.00004
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_007194.4(CHEK2):c.*2dup
|
rs749257861
|
0.00004
|
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)
|
rs121908705
|
0.00004
|
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr)
|
rs80357328
|
0.00004
|
NM_024422.6(DSC2):c.669A>G (p.Pro223=)
|
rs923697621
|
0.00004
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
rs377085677
|
0.00004
|
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr)
|
rs370422990
|
0.00004
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe)
|
rs373478248
|
0.00004
|
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)
|
rs376641234
|
0.00004
|
NM_024675.4(PALB2):c.829G>A (p.Asp277Asn)
|
rs778309339
|
0.00004
|
NM_032043.3(BRIP1):c.-5G>A
|
rs754270436
|
0.00004
|
NM_170707.4(LMNA):c.1931G>A (p.Arg644His)
|
rs368386019
|
0.00004
|
NM_174936.4(PCSK9):c.627C>T (p.Pro209=)
|
rs375892354
|
0.00004
|
NM_000038.6(APC):c.4525C>T (p.Leu1509=)
|
rs572839648
|
0.00003
|
NM_000038.6(APC):c.647G>A (p.Arg216Gln)
|
rs76685252
|
0.00003
|
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)
|
rs369264968
|
0.00003
|
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)
|
rs377597949
|
0.00003
|
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)
|
rs199954262
|
0.00003
|
NM_000051.4(ATM):c.2449G>C (p.Asp817His)
|
rs587778067
|
0.00003
|
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)
|
rs730881353
|
0.00003
|
NM_000051.4(ATM):c.2751C>T (p.Ser917=)
|
rs876659611
|
0.00003
|
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)
|
rs200151849
|
0.00003
|
NM_000051.4(ATM):c.2838+9C>G
|
rs370160823
|
0.00003
|
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)
|
rs368111672
|
0.00003
|
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)
|
rs372966951
|
0.00003
|
NM_000059.4(BRCA2):c.4483G>A (p.Val1495Ile)
|
rs80358680
|
0.00003
|
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)
|
rs80358784
|
0.00003
|
NM_000059.4(BRCA2):c.6172T>A (p.Phe2058Ile)
|
rs80358857
|
0.00003
|
NM_000059.4(BRCA2):c.6293C>T (p.Ser2098Phe)
|
rs80358867
|
0.00003
|
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)
|
rs80359220
|
0.00003
|
NM_000138.5(FBN1):c.378A>G (p.Gly126=)
|
rs149611106
|
0.00003
|
NM_000138.5(FBN1):c.4337-5C>G
|
rs370959127
|
0.00003
|
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=)
|
rs113904256
|
0.00003
|
NM_000169.3(GLA):c.639+6A>C
|
rs200096940
|
0.00003
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)
|
rs63749973
|
0.00003
|
NM_000179.3(MSH6):c.3173-10C>T
|
rs587780559
|
0.00003
|
NM_000218.3(KCNQ1):c.1514+3G>A
|
rs374767819
|
0.00003
|
NM_000218.3(KCNQ1):c.683+3G>A
|
rs1025802726
|
0.00003
|
NM_000238.4(KCNH2):c.1128+1830C>T
|
rs778819756
|
0.00003
|
NM_000238.4(KCNH2):c.3072C>T (p.Asn1024=)
|
rs781274793
|
0.00003
|
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln)
|
rs63749900
|
0.00003
|
NM_000249.4(MLH1):c.94A>G (p.Ile32Val)
|
rs2020872
|
0.00003
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr)
|
rs747700106
|
0.00003
|
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala)
|
rs63750797
|
0.00003
|
NM_000256.3(MYBPC3):c.3191-7C>T
|
rs373012629
|
0.00003
|
NM_000256.3(MYBPC3):c.927-10C>T
|
rs201078659
|
0.00003
|
NM_000335.5(SCN5A):c.21T>A (p.Pro7=)
|
rs587781157
|
0.00003
|
NM_000335.5(SCN5A):c.3837C>T (p.Asp1279=)
|
rs749069817
|
0.00003
|
NM_000363.5(TNNI3):c.-8G>A
|
rs773513015
|
0.00003
|
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu)
|
rs201867031
|
0.00003
|
NM_000455.5(STK11):c.1193C>T (p.Ala398Val)
|
rs768058962
|
0.00003
|
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile)
|
rs201032007
|
0.00003
|
NM_000465.4(BARD1):c.1904-5G>A
|
rs376639978
|
0.00003
|
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn)
|
rs369561166
|
0.00003
|
NM_000527.5(LDLR):c.1060+9C>T
|
rs540073140
|
0.00003
|
NM_000527.5(LDLR):c.1221C>T (p.His407=)
|
rs778424518
|
0.00003
|
NM_000527.5(LDLR):c.186G>A (p.Thr62=)
|
rs55958434
|
0.00003
|
NM_000527.5(LDLR):c.2324T>C (p.Val775Ala)
|
rs780300776
|
0.00003
|
NM_000527.5(LDLR):c.2388C>T (p.Ile796=)
|
rs543852919
|
0.00003
|
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys)
|
rs551747280
|
0.00003
|
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)
|
rs146848345
|
0.00003
|
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)
|
rs201834803
|
0.00003
|
NM_000540.3(RYR1):c.6813G>A (p.Thr2271=)
|
rs147786842
|
0.00003
|
NM_000546.6(TP53):c.329G>A (p.Arg110His)
|
rs11540654
|
0.00003
|
NM_001035.3(RYR2):c.8209-4T>C
|
rs371966353
|
0.00003
|
NM_002474.3(MYH11):c.4735G>A (p.Asp1579Asn)
|
rs369751362
|
0.00003
|
NM_002878.4(RAD51D):c.878C>T (p.Ala293Val)
|
rs769732230
|
0.00003
|
NM_002878.4(RAD51D):c.915C>G (p.Phe305Leu)
|
rs1316114457
|
0.00003
|
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)
|
rs201560560
|
0.00003
|
NM_005902.4(SMAD3):c.533-13_533-10del
|
rs752716057
|
0.00003
|
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)
|
rs587780171
|
0.00003
|
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu)
|
rs587782541
|
0.00003
|
NM_007294.4(BRCA1):c.1881C>G (p.Val627=)
|
rs80356838
|
0.00003
|
NM_007294.4(BRCA1):c.3355A>T (p.Thr1119Ser)
|
rs80356949
|
0.00003
|
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg)
|
rs80357079
|
0.00003
|
NM_007294.4(BRCA1):c.594-2A>C
|
rs80358033
|
0.00003
|
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe)
|
rs80357394
|
0.00003
|
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly)
|
rs55680408
|
0.00003
|
NM_016203.4(PRKAG2):c.*2C>T
|
rs199559205
|
0.00003
|
NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=)
|
rs767902787
|
0.00003
|
NM_016203.4(PRKAG2):c.1234-6G>A
|
rs780341115
|
0.00003
|
NM_024675.4(PALB2):c.1756G>A (p.Asp586Asn)
|
rs587781954
|
0.00003
|
NM_024675.4(PALB2):c.2743G>A (p.Ala915Thr)
|
rs374736398
|
0.00003
|
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)
|
rs587780214
|
0.00003
|
NM_024675.4(PALB2):c.94C>G (p.Leu32Val)
|
rs151316635
|
0.00003
|
NM_032043.3(BRIP1):c.1257G>A (p.Arg419=)
|
rs148429663
|
0.00003
|
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu)
|
rs4988349
|
0.00003
|
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=)
|
rs766047812
|
0.00003
|
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser)
|
rs571108955
|
0.00003
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)
|
rs200239986
|
0.00003
|
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)
|
rs188258913
|
0.00003
|
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val)
|
rs761405340
|
0.00003
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
NM_174936.4(PCSK9):c.1432G>A (p.Ala478Thr)
|
rs375582388
|
0.00003
|
NM_174936.4(PCSK9):c.1863+6G>A
|
rs568853401
|
0.00003
|
NM_000038.6(APC):c.2222A>G (p.Asn741Ser)
|
rs150209825
|
0.00002
|
NM_000038.6(APC):c.8429A>G (p.Asn2810Ser)
|
rs758044862
|
0.00002
|
NM_000051.4(ATM):c.1855A>C (p.Asn619His)
|
rs140882609
|
0.00002
|
NM_000051.4(ATM):c.2262A>G (p.Gln754=)
|
rs778320952
|
0.00002
|
NM_000051.4(ATM):c.7358G>A (p.Arg2453His)
|
rs587781361
|
0.00002
|
NM_000051.4(ATM):c.9045G>A (p.Glu3015=)
|
rs786203336
|
0.00002
|
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met)
|
rs80358390
|
0.00002
|
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu)
|
rs28897717
|
0.00002
|
NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys)
|
rs183920365
|
0.00002
|
NM_000059.4(BRCA2):c.3962A>G (p.Asp1321Gly)
|
rs80358645
|
0.00002
|
NM_000059.4(BRCA2):c.5113A>G (p.Ile1705Val)
|
rs80358737
|
0.00002
|
NM_000059.4(BRCA2):c.5423T>C (p.Ile1808Thr)
|
rs397507350
|
0.00002
|
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile)
|
rs80358766
|
0.00002
|
NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile)
|
rs55730620
|
0.00002
|
NM_000059.4(BRCA2):c.5975C>T (p.Ser1992Leu)
|
rs80358830
|
0.00002
|
NM_000059.4(BRCA2):c.6550C>G (p.Gln2184Glu)
|
rs80358887
|
0.00002
|
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys)
|
rs397507875
|
0.00002
|
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu)
|
rs80359036
|
0.00002
|
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu)
|
rs80359241
|
0.00002
|
NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val)
|
rs80359254
|
0.00002
|
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)
|
rs76635144
|
0.00002
|
NM_000090.4(COL3A1):c.2287C>T (p.Pro763Ser)
|
rs771671892
|
0.00002
|
NM_000138.5(FBN1):c.1961-7T>C
|
rs878853675
|
0.00002
|
NM_000138.5(FBN1):c.4337-3A>C
|
rs770551687
|
0.00002
|
NM_000138.5(FBN1):c.6616+5A>G
|
rs1381778697
|
0.00002
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00002
|
NM_000179.3(MSH6):c.257C>T (p.Thr86Ile)
|
rs768444916
|
0.00002
|
NM_000179.3(MSH6):c.476C>T (p.Ala159Val)
|
rs587778528
|
0.00002
|
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)
|
rs750409379
|
0.00002
|
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=)
|
rs41307292
|
0.00002
|
NM_000249.4(MLH1):c.1872C>T (p.Asp624=)
|
rs145535636
|
0.00002
|
NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys)
|
rs775390721
|
0.00002
|
NM_000251.3(MSH2):c.2635-11A>G
|
rs201291595
|
0.00002
|
NM_000251.3(MSH2):c.51C>A (p.Val17=)
|
rs397515879
|
0.00002
|
NM_000251.3(MSH2):c.792+5A>G
|
rs267607935
|
0.00002
|
NM_000256.3(MYBPC3):c.1351+4G>A
|
rs777487971
|
0.00002
|
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=)
|
rs727503181
|
0.00002
|
NM_000257.4(MYH7):c.3854-5C>T
|
rs752385694
|
0.00002
|
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=)
|
rs150552664
|
0.00002
|
NM_000257.4(MYH7):c.733-3C>T
|
rs765068619
|
0.00002
|
NM_000268.4(NF2):c.600-13G>A
|
rs374509697
|
0.00002
|
NM_000335.5(SCN5A):c.1035C>T (p.Gly345=)
|
rs764026969
|
0.00002
|
NM_000335.5(SCN5A):c.158G>A (p.Arg53Gln)
|
rs199473049
|
0.00002
|
NM_000335.5(SCN5A):c.2039G>A (p.Arg680His)
|
rs199473142
|
0.00002
|
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)
|
rs561922849
|
0.00002
|
NM_000363.5(TNNI3):c.151-6C>G
|
rs377258542
|
0.00002
|
NM_000432.4(MYL2):c.355G>A (p.Val119Ile)
|
rs730880940
|
0.00002
|
NM_000455.5(STK11):c.1108+3G>A
|
rs755746417
|
0.00002
|
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn)
|
rs370771157
|
0.00002
|
NM_000465.4(BARD1):c.2083G>A (p.Val695Ile)
|
rs111367604
|
0.00002
|
NM_000465.4(BARD1):c.2179G>A (p.Asp727Asn)
|
rs730881424
|
0.00002
|
NM_000465.4(BARD1):c.267G>A (p.Pro89=)
|
rs756165637
|
0.00002
|
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly)
|
rs16852741
|
0.00002
|
NM_000527.5(LDLR):c.-13A>G
|
rs376011618
|
0.00002
|
NM_000527.5(LDLR):c.2100C>T (p.Asp700=)
|
rs759858813
|
0.00002
|
NM_000535.7(PMS2):c.-1C>A
|
rs369681753
|
0.00002
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
NM_000535.7(PMS2):c.139C>G (p.Leu47Val)
|
rs766203500
|
0.00002
|
NM_000535.7(PMS2):c.24-3T>C
|
rs749485884
|
0.00002
|
NM_000535.7(PMS2):c.537+6G>A
|
rs1358613918
|
0.00002
|
NM_000535.7(PMS2):c.706-13T>C
|
rs730881918
|
0.00002
|
NM_000535.7(PMS2):c.852A>G (p.Ser284=)
|
rs766177007
|
0.00002
|
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=)
|
rs375997435
|
0.00002
|
NM_000540.3(RYR1):c.9555-14G>A
|
rs763353979
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=)
|
rs368325383
|
0.00002
|
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln)
|
rs587782120
|
0.00002
|
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr)
|
rs560905645
|
0.00002
|
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser)
|
rs563865467
|
0.00002
|
NM_002474.3(MYH11):c.415G>A (p.Val139Ile)
|
rs745609580
|
0.00002
|
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=)
|
rs774511118
|
0.00002
|
NM_002878.4(RAD51D):c.346-4C>G
|
rs767328693
|
0.00002
|
NM_004415.4(DSP):c.3282G>A (p.Lys1094=)
|
rs2491080
|
0.00002
|
NM_004612.4(TGFBR1):c.343+3A>G
|
rs374717754
|
0.00002
|
NM_005359.6(SMAD4):c.132A>G (p.Val44=)
|
rs965942065
|
0.00002
|
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)
|
rs587781379
|
0.00002
|
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met)
|
rs80357169
|
0.00002
|
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln)
|
rs397507239
|
0.00002
|
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=)
|
rs767613486
|
0.00002
|
NM_016203.4(PRKAG2):c.685-5C>A
|
rs779931367
|
0.00002
|
NM_024675.4(PALB2):c.1054G>C (p.Glu352Gln)
|
rs201035780
|
0.00002
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00002
|
NM_024675.4(PALB2):c.1767G>A (p.Thr589=)
|
rs769849072
|
0.00002
|
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn)
|
rs587781818
|
0.00002
|
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile)
|
rs201042302
|
0.00002
|
NM_032043.3(BRIP1):c.1644T>C (p.Tyr548=)
|
rs372760869
|
0.00002
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala)
|
rs138743097
|
0.00002
|
NM_058216.3(RAD51C):c.106G>A (p.Glu36Lys)
|
rs773998134
|
0.00002
|
NM_174936.4(PCSK9):c.10G>A (p.Val4Ile)
|
rs186669805
|
0.00002
|
NM_000038.6(APC):c.252A>G (p.Gly84=)
|
rs375051600
|
0.00001
|
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser)
|
rs151286353
|
0.00001
|
NM_000038.6(APC):c.4143A>C (p.Pro1381=)
|
rs778565823
|
0.00001
|
NM_000038.6(APC):c.4333A>G (p.Thr1445Ala)
|
rs587780597
|
0.00001
|
NM_000038.6(APC):c.5264C>T (p.Ala1755Val)
|
rs771967537
|
0.00001
|
NM_000038.6(APC):c.5304G>A (p.Lys1768=)
|
rs863224285
|
0.00001
|
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)
|
rs200601781
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.1648A>G (p.Ile550Val)
|
rs202144949
|
0.00001
|
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)
|
rs528165789
|
0.00001
|
NM_000051.4(ATM):c.2124+6A>T
|
rs550998406
|
0.00001
|
NM_000051.4(ATM):c.2467-7C>T
|
rs768850329
|
0.00001
|
NM_000051.4(ATM):c.2748G>T (p.Val916=)
|
rs1050470790
|
0.00001
|
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)
|
rs189445371
|
0.00001
|
NM_000051.4(ATM):c.4237-8T>C
|
rs750427647
|
0.00001
|
NM_000051.4(ATM):c.4612-4T>G
|
rs569983068
|
0.00001
|
NM_000051.4(ATM):c.4703A>G (p.His1568Arg)
|
rs368830730
|
0.00001
|
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)
|
rs587782506
|
0.00001
|
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)
|
rs199836342
|
0.00001
|
NM_000051.4(ATM):c.591A>T (p.Gly197=)
|
rs587780630
|
0.00001
|
NM_000051.4(ATM):c.6348-3C>T
|
rs946541820
|
0.00001
|
NM_000051.4(ATM):c.69A>G (p.Arg23=)
|
rs876659304
|
0.00001
|
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu)
|
rs371767164
|
0.00001
|
NM_000059.4(BRCA2):c.10024G>A (p.Glu3342Lys)
|
rs28897761
|
0.00001
|
NM_000059.4(BRCA2):c.10070C>T (p.Thr3357Ile)
|
rs80358388
|
0.00001
|
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)
|
rs80358389
|
0.00001
|
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)
|
rs397507568
|
0.00001
|
NM_000059.4(BRCA2):c.10238C>A (p.Thr3413Lys)
|
rs730881584
|
0.00001
|
NM_000059.4(BRCA2):c.10249T>C (p.Tyr3417His)
|
rs535952730
|
0.00001
|
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg)
|
rs80358417
|
0.00001
|
NM_000059.4(BRCA2):c.1427C>G (p.Ser476Cys)
|
rs80358431
|
0.00001
|
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val)
|
rs760559435
|
0.00001
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)
|
rs80358439
|
0.00001
|
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys)
|
rs80358459
|
0.00001
|
NM_000059.4(BRCA2):c.2014A>G (p.Arg672Gly)
|
rs587781647
|
0.00001
|
NM_000059.4(BRCA2):c.2287C>G (p.His763Asp)
|
rs863224585
|
0.00001
|
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)
|
rs397507296
|
0.00001
|
NM_000059.4(BRCA2):c.3251G>A (p.Ser1084Asn)
|
rs543748012
|
0.00001
|
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val)
|
rs41293479
|
0.00001
|
NM_000059.4(BRCA2):c.3431T>G (p.Val1144Gly)
|
rs80358587
|
0.00001
|
NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu)
|
rs56242644
|
0.00001
|
NM_000059.4(BRCA2):c.3453C>G (p.Ile1151Met)
|
rs80358592
|
0.00001
|
NM_000059.4(BRCA2):c.375T>A (p.Asp125Glu)
|
rs80358616
|
0.00001
|
NM_000059.4(BRCA2):c.4316C>A (p.Ala1439Asp)
|
rs80358667
|
0.00001
|
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr)
|
rs80358678
|
0.00001
|
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)
|
rs80358684
|
0.00001
|
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His)
|
rs80358685
|
0.00001
|
NM_000059.4(BRCA2):c.4703A>G (p.Lys1568Arg)
|
rs80358699
|
0.00001
|
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn)
|
rs397507341
|
0.00001
|
NM_000059.4(BRCA2):c.5200G>A (p.Glu1734Lys)
|
rs786202543
|
0.00001
|
NM_000059.4(BRCA2):c.521G>A (p.Arg174His)
|
rs80358747
|
0.00001
|
NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala)
|
rs28897735
|
0.00001
|
NM_000059.4(BRCA2):c.5536A>G (p.Ile1846Val)
|
rs587782375
|
0.00001
|
NM_000059.4(BRCA2):c.5663A>G (p.Lys1888Arg)
|
rs80358791
|
0.00001
|
NM_000059.4(BRCA2):c.5714A>G (p.His1905Arg)
|
rs80358796
|
0.00001
|
NM_000059.4(BRCA2):c.5753A>G (p.His1918Arg)
|
rs80358804
|
0.00001
|
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del)
|
rs80359581
|
0.00001
|
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu)
|
rs276174873
|
0.00001
|
NM_000059.4(BRCA2):c.6613G>A (p.Val2205Met)
|
rs80358889
|
0.00001
|
NM_000059.4(BRCA2):c.682-13A>G
|
rs81002888
|
0.00001
|
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys)
|
rs80358914
|
0.00001
|
NM_000059.4(BRCA2):c.7222C>T (p.Pro2408Ser)
|
rs398122577
|
0.00001
|
NM_000059.4(BRCA2):c.7241C>T (p.Ser2414Leu)
|
rs80358951
|
0.00001
|
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe)
|
rs56335340
|
0.00001
|
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg)
|
rs786204274
|
0.00001
|
NM_000059.4(BRCA2):c.8432A>G (p.Asp2811Gly)
|
rs80359090
|
0.00001
|
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser)
|
rs80359122
|
0.00001
|
NM_000059.4(BRCA2):c.8866G>C (p.Glu2956Gln)
|
rs142040996
|
0.00001
|
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)
|
rs202155613
|
0.00001
|
NM_000059.4(BRCA2):c.9155G>A (p.Arg3052Gln)
|
rs80359171
|
0.00001
|
NM_000059.4(BRCA2):c.9477C>A (p.Phe3159Leu)
|
rs80359221
|
0.00001
|
NM_000059.4(BRCA2):c.9616C>G (p.Gln3206Glu)
|
rs80359233
|
0.00001
|
NM_000059.4(BRCA2):c.9839C>A (p.Pro3280His)
|
rs80359246
|
0.00001
|
NM_000077.5(CDKN2A):c.225C>G (p.Pro75=)
|
rs762397298
|
0.00001
|
NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu)
|
rs763269347
|
0.00001
|
NM_000077.5(CDKN2A):c.388C>T (p.Leu130=)
|
rs1060501261
|
0.00001
|
NM_000090.4(COL3A1):c.1819C>G (p.Pro607Ala)
|
rs376525602
|
0.00001
|
NM_000090.4(COL3A1):c.3526-10C>T
|
rs376171095
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile)
|
rs568625812
|
0.00001
|
NM_000138.5(FBN1):c.8227-3C>T
|
rs200822151
|
0.00001
|
NM_000169.3(GLA):c.194+6A>G
|
rs1463398466
|
0.00001
|
NM_000179.3(MSH6):c.-12C>G
|
rs766407370
|
0.00001
|
NM_000179.3(MSH6):c.1132A>C (p.Arg378=)
|
rs781572949
|
0.00001
|
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)
|
rs63751009
|
0.00001
|
NM_000179.3(MSH6):c.1707C>T (p.Phe569=)
|
rs1553413086
|
0.00001
|
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)
|
rs143643688
|
0.00001
|
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)
|
rs773955368
|
0.00001
|
NM_000179.3(MSH6):c.38A>G (p.Lys13Arg)
|
rs41294988
|
0.00001
|
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser)
|
rs780187989
|
0.00001
|
NM_000179.3(MSH6):c.4002-4T>C
|
rs370428032
|
0.00001
|
NM_000179.3(MSH6):c.4002-8A>C
|
rs778957100
|
0.00001
|
NM_000179.3(MSH6):c.869T>C (p.Leu290Pro)
|
rs751309721
|
0.00001
|
NM_000218.3(KCNQ1):c.1198C>G (p.Pro400Ala)
|
rs1489132337
|
0.00001
|
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met)
|
rs199472694
|
0.00001
|
NM_000218.3(KCNQ1):c.684-5C>T
|
rs1212611138
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1810C>T
|
rs972201049
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1860C>T
|
rs767264288
|
0.00001
|
NM_000238.4(KCNH2):c.1946-8G>A
|
rs1384850938
|
0.00001
|
NM_000238.4(KCNH2):c.2398+25G>T
|
rs761167679
|
0.00001
|
NM_000238.4(KCNH2):c.2398+98G>A
|
rs545247794
|
0.00001
|
NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn)
|
rs756099600
|
0.00001
|
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)
|
rs63751083
|
0.00001
|
NM_000249.4(MLH1):c.1447G>A (p.Glu483Lys)
|
rs774236450
|
0.00001
|
NM_000249.4(MLH1):c.2094A>G (p.Ser698=)
|
rs786202433
|
0.00001
|
NM_000249.4(MLH1):c.306+3A>G
|
rs267607731
|
0.00001
|
NM_000249.4(MLH1):c.513A>G (p.Glu171=)
|
rs779148982
|
0.00001
|
NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro)
|
rs55653533
|
0.00001
|
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)
|
rs772662439
|
0.00001
|
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu)
|
rs63750849
|
0.00001
|
NM_000251.3(MSH2):c.2640T>C (p.Gly880=)
|
rs1368565489
|
0.00001
|
NM_000251.3(MSH2):c.646-3T>C
|
rs267607930
|
0.00001
|
NM_000251.3(MSH2):c.816G>A (p.Ala272=)
|
rs368912987
|
0.00001
|
NM_000251.3(MSH2):c.951T>A (p.Val317=)
|
rs1553353105
|
0.00001
|
NM_000256.3(MYBPC3):c.1038C>T (p.Arg346=)
|
rs758016271
|
0.00001
|
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly)
|
rs373164247
|
0.00001
|
NM_000256.3(MYBPC3):c.2034T>C (p.Ala678=)
|
rs757832991
|
0.00001
|
NM_000256.3(MYBPC3):c.3379C>T (p.Pro1127Ser)
|
rs1488618086
|
0.00001
|
NM_000256.3(MYBPC3):c.651C>T (p.Ser217=)
|
rs1199611247
|
0.00001
|
NM_000257.4(MYH7):c.3147G>A (p.Glu1049=)
|
rs1216521596
|
0.00001
|
NM_000257.4(MYH7):c.3975G>A (p.Ala1325=)
|
rs1424491117
|
0.00001
|
NM_000257.4(MYH7):c.4992C>T (p.Asn1664=)
|
rs763538103
|
0.00001
|
NM_000257.4(MYH7):c.5178G>A (p.Gln1726=)
|
rs747252861
|
0.00001
|
NM_000314.8(PTEN):c.114T>G (p.Pro38=)
|
rs748040144
|
0.00001
|
NM_000335.5(SCN5A):c.1345A>G (p.Thr449Ala)
|
rs199473571
|
0.00001
|
NM_000335.5(SCN5A):c.1538G>A (p.Arg513His)
|
rs397517951
|
0.00001
|
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=)
|
rs751050999
|
0.00001
|
NM_000335.5(SCN5A):c.2437-3C>T
|
rs1289539591
|
0.00001
|
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile)
|
rs199473177
|
0.00001
|
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=)
|
rs781529391
|
0.00001
|
NM_000335.5(SCN5A):c.3509-3T>C
|
rs924305428
|
0.00001
|
NM_000335.5(SCN5A):c.393-4G>A
|
rs1390882998
|
0.00001
|
NM_000335.5(SCN5A):c.401A>G (p.Asn134Ser)
|
rs879162705
|
0.00001
|
NM_000335.5(SCN5A):c.4068G>A (p.Ala1356=)
|
rs187370816
|
0.00001
|
NM_000335.5(SCN5A):c.4218C>T (p.Ala1406=)
|
rs373042738
|
0.00001
|
NM_000335.5(SCN5A):c.4824G>A (p.Ser1608=)
|
rs886058460
|
0.00001
|
NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=)
|
rs780761880
|
0.00001
|
NM_000335.5(SCN5A):c.6047G>A (p.Ter2016=)
|
rs529885772
|
0.00001
|
NM_000335.5(SCN5A):c.687T>C (p.Thr229=)
|
rs770390440
|
0.00001
|
NM_000335.5(SCN5A):c.857C>T (p.Ala286Val)
|
rs778943853
|
0.00001
|
NM_000335.5(SCN5A):c.898G>A (p.Val300Ile)
|
rs199473088
|
0.00001
|
NM_000368.5(TSC1):c.2556G>C (p.Leu852=)
|
rs770381040
|
0.00001
|
NM_000384.3(APOB):c.403A>G (p.Ile135Val)
|
rs769296548
|
0.00001
|
NM_000455.5(STK11):c.-1C>T
|
rs759284466
|
0.00001
|
NM_000455.5(STK11):c.1167C>G (p.Ala389=)
|
rs547919101
|
0.00001
|
NM_000455.5(STK11):c.291-13C>T
|
rs1332978515
|
0.00001
|
NM_000455.5(STK11):c.720G>A (p.Ser240=)
|
rs759743897
|
0.00001
|
NM_000455.5(STK11):c.841C>A (p.Pro281Thr)
|
rs377208033
|
0.00001
|
NM_000465.4(BARD1):c.2002-12T>G
|
rs587780027
|
0.00001
|
NM_000465.4(BARD1):c.465A>G (p.Arg155=)
|
rs730881413
|
0.00001
|
NM_000465.4(BARD1):c.73G>C (p.Ala25Pro)
|
rs751646468
|
0.00001
|
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met)
|
rs745343524
|
0.00001
|
NM_000527.5(LDLR):c.1587-11C>T
|
rs201957233
|
0.00001
|
NM_000527.5(LDLR):c.1911C>T (p.Ser637=)
|
rs373570349
|
0.00001
|
NM_000527.5(LDLR):c.2097G>A (p.Pro699=)
|
rs370835628
|
0.00001
|
NM_000527.5(LDLR):c.2391G>C (p.Val797=)
|
rs752846235
|
0.00001
|
NM_000527.5(LDLR):c.2548-12A>G
|
rs771336748
|
0.00001
|
NM_000527.5(LDLR):c.543G>A (p.Pro181=)
|
rs766577671
|
0.00001
|
NM_000527.5(LDLR):c.981C>T (p.His327=)
|
rs1060499933
|
0.00001
|
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe)
|
rs748698776
|
0.00001
|
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile)
|
rs63750947
|
0.00001
|
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)
|
rs762100304
|
0.00001
|
NM_000535.7(PMS2):c.1765G>C (p.Asp589His)
|
rs749727182
|
0.00001
|
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)
|
rs760629688
|
0.00001
|
NM_000535.7(PMS2):c.354-5C>G
|
rs200591010
|
0.00001
|
NM_000535.7(PMS2):c.988+4A>G
|
rs763959308
|
0.00001
|
NM_000540.3(RYR1):c.1218C>T (p.Thr406=)
|
rs3745846
|
0.00001
|
NM_000540.3(RYR1):c.1440G>A (p.Glu480=)
|
rs989350448
|
0.00001
|
NM_000546.6(TP53):c.783-10T>C
|
rs377590379
|
0.00001
|
NM_001005242.3(PKP2):c.1379-5T>C
|
rs189036647
|
0.00001
|
NM_001018005.2(TPM1):c.774C>T (p.Asp258=)
|
rs762282433
|
0.00001
|
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=)
|
rs768161152
|
0.00001
|
NM_001035.3(RYR2):c.2719-4T>A
|
rs397516523
|
0.00001
|
NM_001035.3(RYR2):c.463+6C>T
|
rs397516533
|
0.00001
|
NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala)
|
rs780707255
|
0.00001
|
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=)
|
rs759314800
|
0.00001
|
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=)
|
rs762521873
|
0.00001
|
NM_001035.3(RYR2):c.8896-9T>C
|
rs773401697
|
0.00001
|
NM_001048174.2(MUTYH):c.802C>T (p.Leu268=)
|
rs778782508
|
0.00001
|
NM_001048174.2(MUTYH):c.852G>A (p.Val284=)
|
rs751875215
|
0.00001
|
NM_001276345.2(TNNT2):c.200-4C>G
|
rs397516448
|
0.00001
|
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)
|
rs772744115
|
0.00001
|
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met)
|
rs943749481
|
0.00001
|
NM_002474.3(MYH11):c.1823A>G (p.Asn608Ser)
|
rs750642581
|
0.00001
|
NM_002474.3(MYH11):c.2345G>A (p.Arg782Gln)
|
rs200835799
|
0.00001
|
NM_002474.3(MYH11):c.3375G>C (p.Glu1125Asp)
|
rs779019646
|
0.00001
|
NM_002474.3(MYH11):c.3469G>A (p.Asp1157Asn)
|
rs746943696
|
0.00001
|
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu)
|
rs200737737
|
0.00001
|
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=)
|
rs370519992
|
0.00001
|
NM_002878.4(RAD51D):c.145-3C>T
|
rs201974522
|
0.00001
|
NM_002878.4(RAD51D):c.869G>A (p.Arg290Gln)
|
rs773883374
|
0.00001
|
NM_002878.4(RAD51D):c.904-13C>A
|
rs964696175
|
0.00001
|
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser)
|
rs780280433
|
0.00001
|
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=)
|
rs886058304
|
0.00001
|
NM_004329.3(BMPR1A):c.1343-3T>C
|
rs771504880
|
0.00001
|
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)
|
rs556110297
|
0.00001
|
NM_004360.5(CDH1):c.147C>T (p.Gly49=)
|
rs1057521592
|
0.00001
|
NM_004360.5(CDH1):c.2542C>T (p.Leu848=)
|
rs1567517746
|
0.00001
|
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys)
|
rs748086082
|
0.00001
|
NM_004612.4(TGFBR1):c.1256-3C>T
|
rs755431191
|
0.00001
|
NM_004656.4(BAP1):c.1081C>T (p.Leu361=)
|
rs1460743052
|
0.00001
|
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=)
|
rs1057520520
|
0.00001
|
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)
|
rs539739051
|
0.00001
|
NM_005359.6(SMAD4):c.870C>T (p.His290=)
|
rs1060504029
|
0.00001
|
NM_005902.4(SMAD3):c.1009+5A>C
|
rs772995932
|
0.00001
|
NM_005902.4(SMAD3):c.1009+6C>T
|
rs749052145
|
0.00001
|
NM_005902.4(SMAD3):c.1010-10T>C
|
rs1179340088
|
0.00001
|
NM_005902.4(SMAD3):c.1010-12T>C
|
rs773629535
|
0.00001
|
NM_005902.4(SMAD3):c.798G>A (p.Ser266=)
|
rs761391442
|
0.00001
|
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=)
|
rs758102180
|
0.00001
|
NM_007194.4(CHEK2):c.132C>T (p.Ser44=)
|
rs199715101
|
0.00001
|
NM_007194.4(CHEK2):c.1461+4G>A
|
rs1057522400
|
0.00001
|
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)
|
rs17882942
|
0.00001
|
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp)
|
rs80356964
|
0.00001
|
NM_007294.4(BRCA1):c.1581G>C (p.Lys527Asn)
|
rs80357493
|
0.00001
|
NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp)
|
rs398122639
|
0.00001
|
NM_007294.4(BRCA1):c.1713A>G (p.Ile571Met)
|
rs552505690
|
0.00001
|
NM_007294.4(BRCA1):c.1879G>A (p.Val627Ile)
|
rs80357425
|
0.00001
|
NM_007294.4(BRCA1):c.2043T>G (p.Ser681Arg)
|
rs143920945
|
0.00001
|
NM_007294.4(BRCA1):c.20G>A (p.Arg7His)
|
rs144792613
|
0.00001
|
NM_007294.4(BRCA1):c.2252T>C (p.Met751Thr)
|
rs587781684
|
0.00001
|
NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser)
|
rs80356884
|
0.00001
|
NM_007294.4(BRCA1):c.2483_2485del (p.Gly828_Phe829delinsVal)
|
rs80358331
|
0.00001
|
NM_007294.4(BRCA1):c.2630A>G (p.Asn877Ser)
|
rs786203689
|
0.00001
|
NM_007294.4(BRCA1):c.2910A>C (p.Lys970Asn)
|
rs431825394
|
0.00001
|
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val)
|
rs80357311
|
0.00001
|
NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser)
|
rs80356900
|
0.00001
|
NM_007294.4(BRCA1):c.3560G>A (p.Ser1187Asn)
|
rs80356975
|
0.00001
|
NM_007294.4(BRCA1):c.3750G>C (p.Glu1250Asp)
|
rs145903082
|
0.00001
|
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)
|
rs78951648
|
0.00001
|
NM_007294.4(BRCA1):c.4344C>T (p.Ser1448=)
|
rs1250691798
|
0.00001
|
NM_007294.4(BRCA1):c.4361T>C (p.Val1454Ala)
|
rs587782606
|
0.00001
|
NM_007294.4(BRCA1):c.5153-3T>C
|
rs375639469
|
0.00001
|
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln)
|
rs80357464
|
0.00001
|
NM_017668.3(NDE1):c.947+11990G>A
|
rs745371874
|
0.00001
|
NM_017668.3(NDE1):c.948-3872G>A
|
rs375652279
|
0.00001
|
NM_024422.6(DSC2):c.474+5C>T
|
rs397517400
|
0.00001
|
NM_024675.4(PALB2):c.-5G>T
|
rs730881875
|
0.00001
|
NM_024675.4(PALB2):c.109-5T>C
|
rs749299119
|
0.00001
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu)
|
rs142103232
|
0.00001
|
NM_024675.4(PALB2):c.161A>G (p.Glu54Gly)
|
rs730881898
|
0.00001
|
NM_024675.4(PALB2):c.1685-3T>C
|
rs1254059410
|
0.00001
|
NM_024675.4(PALB2):c.1697G>A (p.Arg566His)
|
rs144617793
|
0.00001
|
NM_024675.4(PALB2):c.2277A>G (p.Gln759=)
|
rs786202524
|
0.00001
|
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser)
|
rs370908330
|
0.00001
|
NM_024675.4(PALB2):c.2515-11T>C
|
rs780521904
|
0.00001
|
NM_024675.4(PALB2):c.292A>G (p.Ile98Val)
|
rs587782831
|
0.00001
|
NM_024675.4(PALB2):c.3103A>G (p.Ile1035Val)
|
rs863224783
|
0.00001
|
NM_024675.4(PALB2):c.3113+17G>T
|
rs1451806881
|
0.00001
|
NM_024675.4(PALB2):c.3114-5C>T
|
rs753307725
|
0.00001
|
NM_032043.3(BRIP1):c.10A>G (p.Met4Val)
|
rs45512093
|
0.00001
|
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp)
|
rs200062099
|
0.00001
|
NM_032043.3(BRIP1):c.205+3A>G
|
rs539329589
|
0.00001
|
NM_032043.3(BRIP1):c.226G>A (p.Val76Ile)
|
rs769573395
|
0.00001
|
NM_032043.3(BRIP1):c.2493-11A>G
|
rs890923836
|
0.00001
|
NM_032043.3(BRIP1):c.2686A>G (p.Ile896Val)
|
rs764406913
|
0.00001
|
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu)
|
rs587782679
|
0.00001
|
NM_058216.3(RAD51C):c.1064G>A (p.Cys355Tyr)
|
rs1555605562
|
0.00001
|
NM_058216.3(RAD51C):c.966-12T>C
|
rs1057522948
|
0.00001
|
NM_170707.4(LMNA):c.1699-8C>G
|
rs727503137
|
0.00001
|
NM_174936.4(PCSK9):c.-8T>C
|
rs886039837
|
0.00001
|
NM_174936.4(PCSK9):c.2023G>A (p.Val675Ile)
|
rs760981278
|
0.00001
|
NM_174936.4(PCSK9):c.2038C>T (p.Arg680Trp)
|
rs533555352
|
0.00001
|
NM_174936.4(PCSK9):c.523G>A (p.Asp175Asn)
|
rs150898485
|
0.00001
|
NM_000038.6(APC):c.15A>G (p.Ser5=)
|
rs1554067106
|
|
NM_000038.6(APC):c.1958+1_1958+4dup
|
rs1060503356
|
|
NM_000038.6(APC):c.220+4G>A
|
rs973491846
|
|
NM_000038.6(APC):c.3007G>A (p.Asp1003Asn)
|
rs564314108
|
|
NM_000038.6(APC):c.4702GAT[3] (p.Asp1571del)
|
rs587782888
|
|
NM_000038.6(APC):c.5465T>G (p.Val1822Gly)
|
rs459552
|
|
NM_000038.6(APC):c.719C>G (p.Thr240Arg)
|
rs751648064
|
|
NM_000051.4(ATM):c.1800C>T (p.His600=)
|
rs750715942
|
|
NM_000051.4(ATM):c.2125-7_2125-3del
|
rs1060504272
|
|
NM_000051.4(ATM):c.2127T>G (p.Ile709Met)
|
rs56252953
|
|
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)
|
rs587778069
|
|
NM_000051.4(ATM):c.2908C>T (p.Leu970=)
|
rs1060504260
|
|
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser)
|
rs730881355
|
|
NM_000051.4(ATM):c.3403-3A>C
|
rs374866638
|
|
NM_000051.4(ATM):c.3403-8_3403-4del
|
rs1555091114
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
|
NM_000051.4(ATM):c.5178-11G>A
|
rs200876654
|
|
NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del)
|
rs866749094
|
|
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser)
|
rs573290117
|
|
NM_000051.4(ATM):c.6573-11G>A
|
rs375599653
|
|
NM_000051.4(ATM):c.6975+13del
|
rs763287238
|
|
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)
|
rs150503164
|
|
NM_000051.4(ATM):c.7089+5G>A
|
rs1351209504
|
|
NM_000051.4(ATM):c.7092A>G (p.Ala2364=)
|
rs1591150359
|
|
NM_000051.4(ATM):c.8211A>T (p.Thr2737=)
|
rs876660946
|
|
NM_000051.4(ATM):c.8334A>G (p.Glu2778=)
|
|
|
NM_000059.3(BRCA2):c.7241_7242inv (p.Ser2414Leu)
|
|
|
NM_000059.4(BRCA2):c.10120A>G (p.Thr3374Ala)
|
rs80358395
|
|
NM_000059.4(BRCA2):c.10163C>A (p.Thr3388Lys)
|
rs1431008455
|
|
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys)
|
rs730881600
|
|
NM_000059.4(BRCA2):c.10254C>G (p.Ile3418Met)
|
rs1566261647
|
|
NM_000059.4(BRCA2):c.1160T>C (p.Val387Ala)
|
rs373945846
|
|
NM_000059.4(BRCA2):c.1630A>G (p.Thr544Ala)
|
rs80358447
|
|
NM_000059.4(BRCA2):c.1666A>G (p.Asn556Asp)
|
rs587781794
|
|
NM_000059.4(BRCA2):c.2679A>G (p.Gln893=)
|
rs786203640
|
|
NM_000059.4(BRCA2):c.2857GAG[1] (p.Glu954del)
|
rs80359360
|
|
NM_000059.4(BRCA2):c.2999T>C (p.Ile1000Thr)
|
rs374769365
|
|
NM_000059.4(BRCA2):c.3767A>G (p.His1256Arg)
|
rs80358618
|
|
NM_000059.4(BRCA2):c.3885A>G (p.Gln1295=)
|
rs876659864
|
|
NM_000059.4(BRCA2):c.476-11T>C
|
rs1555280973
|
|
NM_000059.4(BRCA2):c.4795AAT[1] (p.Asn1600del)
|
rs276174851
|
|
NM_000059.4(BRCA2):c.52C>T (p.Arg18Cys)
|
rs786201560
|
|
NM_000059.4(BRCA2):c.5553C>T (p.Ile1851=)
|
rs573514896
|
|
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile)
|
rs80358777
|
|
NM_000059.4(BRCA2):c.5659A>G (p.Thr1887Ala)
|
rs786202618
|
|
NM_000059.4(BRCA2):c.5728_5730del (p.Asn1910del)
|
rs28897736
|
|
NM_000059.4(BRCA2):c.6691G>A (p.Ala2231Thr)
|
rs758379999
|
|
NM_000059.4(BRCA2):c.6714T>G (p.Asp2238Glu)
|
rs28897742
|
|
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu)
|
rs576279166
|
|
NM_000059.4(BRCA2):c.6937+5A>G
|
rs397507379
|
|
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val)
|
rs431825352
|
|
NM_000059.4(BRCA2):c.7354A>G (p.Asn2452Asp)
|
rs398122580
|
|
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met)
|
rs431825362
|
|
NM_000059.4(BRCA2):c.8040C>G (p.Asp2680Glu)
|
rs876660013
|
|
NM_000059.4(BRCA2):c.8324T>G (p.Met2775Arg)
|
rs80359073
|
|
NM_000059.4(BRCA2):c.8488-3C>T
|
rs1566249158
|
|
NM_000059.4(BRCA2):c.8559A>G (p.Lys2853=)
|
rs1057520669
|
|
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp)
|
rs766173
|
|
NM_000059.4(BRCA2):c.8944A>C (p.Lys2982Gln)
|
rs80359145
|
|
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser)
|
rs80359165
|
|
NM_000059.4(BRCA2):c.9433G>T (p.Val3145Leu)
|
rs587776476
|
|
NM_000059.4(BRCA2):c.9632C>A (p.Thr3211Lys)
|
rs730881583
|
|
NM_000059.4(BRCA2):c.9952A>C (p.Asn3318His)
|
rs80359256
|
|
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val)
|
rs35534614
|
|
NM_000077.5(CDKN2A):c.168C>T (p.Ser56=)
|
rs771138120
|
|
NM_000077.5(CDKN2A):c.339G>A (p.Leu113=)
|
rs575031539
|
|
NM_000077.5(CDKN2A):c.84G>A (p.Val28=)
|
rs1461154048
|
|
NM_000090.4(COL3A1):c.3093+5A>G
|
rs1688583785
|
|
NM_000090.4(COL3A1):c.3117T>C (p.Ser1039=)
|
rs1559061716
|
|
NM_000138.5(FBN1):c.2031T>A (p.Ala677=)
|
rs762312642
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000138.5(FBN1):c.5788+4C>A
|
rs577301285
|
|
NM_000138.5(FBN1):c.6478G>A (p.Ala2160Thr)
|
rs2043077484
|
|
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=)
|
rs886051245
|
|
NM_000138.5(FBN1):c.723G>A (p.Thr241=)
|
rs757264206
|
|
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=)
|
rs886051244
|
|
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln)
|
rs370096856
|
|
NM_000169.3(GLA):c.585C>T (p.Gly195=)
|
rs1928285510
|
|
NM_000179.3(MSH6):c.-4C>T
|
rs1114167784
|
|
NM_000179.3(MSH6):c.117G>A (p.Gly39=)
|
rs756673077
|
|
NM_000179.3(MSH6):c.135C>T (p.Gly45=)
|
rs876659020
|
|
NM_000179.3(MSH6):c.178T>G (p.Leu60Val)
|
rs35819209
|
|
NM_000179.3(MSH6):c.184C>A (p.Arg62Ser)
|
rs876659508
|
|
NM_000179.3(MSH6):c.2413A>G (p.Ile805Val)
|
rs928923556
|
|
NM_000179.3(MSH6):c.255C>G (p.Pro85=)
|
rs587779242
|
|
NM_000179.3(MSH6):c.2584C>T (p.Leu862=)
|
rs1187393388
|
|
NM_000179.3(MSH6):c.2668G>A (p.Val890Ile)
|
rs786202628
|
|
NM_000179.3(MSH6):c.3173-12C>T
|
rs1057517629
|
|
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3375C>T (p.Gly1125=)
|
rs765577023
|
|
NM_000179.3(MSH6):c.3843G>A (p.Glu1281=)
|
rs864622384
|
|
NM_000179.3(MSH6):c.4083GACT[3] (p.Ter1361=)
|
rs765313977
|
|
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)
|
rs587781510
|
|
NM_000218.3(KCNQ1):c.1129-8G>A
|
rs200612600
|
|
NM_000218.3(KCNQ1):c.683+4C>T
|
rs554698776
|
|
NM_000218.3(KCNQ1):c.684-4G>A
|
rs750965939
|
|
NM_000218.3(KCNQ1):c.879C>A (p.Arg293=)
|
rs181106858
|
|
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=)
|
rs144926928
|
|
NM_000238.4(KCNH2):c.2592+3G>A
|
rs906562788
|
|
NM_000238.4(KCNH2):c.3357G>A (p.Glu1119=)
|
rs1389024546
|
|
NM_000238.4(KCNH2):c.77-5C>T
|
rs72549419
|
|
NM_000249.4(MLH1):c.-15T>C
|
rs764112241
|
|
NM_000249.4(MLH1):c.-8G>T
|
rs761672073
|
|
NM_000249.4(MLH1):c.1136A>C (p.Tyr379Ser)
|
rs143009528
|
|
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)
|
rs147939838
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
NM_000249.4(MLH1):c.2059C>A (p.Arg687=)
|
rs63751275
|
|
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)
|
rs773647920
|
|
NM_000249.4(MLH1):c.479C>T (p.Ala160Val)
|
rs63749924
|
|
NM_000249.4(MLH1):c.589-9_589-6del
|
rs587779026
|
|
NM_000249.4(MLH1):c.678-5A>G
|
rs1553645100
|
|
NM_000249.4(MLH1):c.885-15T>G
|
rs773112917
|
|
NM_000251.3(MSH2):c.1387-5T>C
|
rs757458333
|
|
NM_000251.3(MSH2):c.1760-4A>G
|
rs1060504409
|
|
NM_000251.3(MSH2):c.212-9T>C
|
rs1573436092
|
|
NM_000251.3(MSH2):c.2268C>G (p.Thr756=)
|
rs1404389752
|
|
NM_000251.3(MSH2):c.2572G>A (p.Gly858Arg)
|
rs754533481
|
|
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile)
|
rs267608022
|
|
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)
|
rs193096019
|
|
NM_000251.3(MSH2):c.54C>T (p.Gly18=)
|
rs63750777
|
|
NM_000256.3(MYBPC3):c.1827C>G (p.Ala609=)
|
rs535853707
|
|
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)
|
rs397516009
|
|
NM_000256.3(MYBPC3):c.3628-41_3628-17del
|
rs36212066
|
|
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu)
|
rs551888783
|
|
NM_000314.8(PTEN):c.174T>C (p.Asp58=)
|
rs769719835
|
|
NM_000314.8(PTEN):c.759C>T (p.Ile253=)
|
rs752250585
|
|
NM_000335.5(SCN5A):c.109A>G (p.Thr37Ala)
|
rs753953732
|
|
NM_000335.5(SCN5A):c.1141-3C>T
|
|
|
NM_000335.5(SCN5A):c.1272C>G (p.Ile424Met)
|
rs267599794
|
|
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe)
|
rs730880211
|
|
NM_000335.5(SCN5A):c.1762C>A (p.His588Asn)
|
rs748732150
|
|
NM_000335.5(SCN5A):c.3229-18C>T
|
rs535600394
|
|
NM_000335.5(SCN5A):c.3229-6C>T
|
rs1298844321
|
|
NM_000335.5(SCN5A):c.3267G>C (p.Pro1089=)
|
rs752999955
|
|
NM_000335.5(SCN5A):c.3540G>A (p.Val1180=)
|
rs1575749126
|
|
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=)
|
rs200334972
|
|
NM_000335.5(SCN5A):c.393-5C>T
|
rs368678204
|
|
NM_000335.5(SCN5A):c.4053C>T (p.Gly1351=)
|
rs587781165
|
|
NM_000335.5(SCN5A):c.4810+4G>A
|
rs1011460663
|
|
NM_000335.5(SCN5A):c.5313G>A (p.Leu1771=)
|
rs2061027209
|
|
NM_000335.5(SCN5A):c.5796C>T (p.Gly1932=)
|
rs2061011853
|
|
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)
|
rs41315493
|
|
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
|
|
|
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
|
|
|
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
|
|
|
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
|
|
|
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
|
|
|
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
|
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
NM_000455.5(STK11):c.1261_1262inv (p.Ser421Leu)
|
|
|
NM_000455.5(STK11):c.399G>A (p.Val133=)
|
rs757021648
|
|
NM_000455.5(STK11):c.464+3G>A
|
rs1060499956
|
|
NM_000465.4(BARD1):c.1989C>T (p.Asn663=)
|
rs587782767
|
|
NM_000465.4(BARD1):c.59C>T (p.Pro20Leu)
|
rs753686197
|
|
NM_000465.4(BARD1):c.860A>T (p.Glu287Val)
|
rs1197692311
|
|
NM_000527.4(LDLR):c.-97G>A
|
rs944580031
|
|
NM_000527.4(LDLR):c.-97G>T
|
rs944580031
|
|
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
|
|
|
NM_000527.5(LDLR):c.1359-6C>T
|
|
|
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser)
|
rs193922568
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
NM_000527.5(LDLR):c.1836C>A (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
|
|
|
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
|
|
|
NM_000527.5(LDLR):c.1863A>G (p.Thr621=)
|
rs768509914
|
|
NM_000527.5(LDLR):c.1987+6G>C
|
rs752382813
|
|
NM_000527.5(LDLR):c.2140+5G>A
|
|
|
NM_000527.5(LDLR):c.2205C>T (p.Ala735=)
|
rs763213863
|
|
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln)
|
rs1555808091
|
|
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn)
|
rs150104358
|
|
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)
|
rs574337291
|
|
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)
|
rs774698247
|
|
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
|
|
|
NM_000527.5(LDLR):c.2389+7G>A
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2548-19G>A
|
|
|
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
|
|
|
NM_000527.5(LDLR):c.59G>A (p.Gly20Glu)
|
rs1568582750
|
|
NM_000527.5(LDLR):c.694+6G>A
|
rs1019330092
|
|
NM_000527.5(LDLR):c.750T>C (p.His250=)
|
rs141929940
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
NM_000527.5(LDLR):c.817+9T>C
|
|
|
NM_000527.5(LDLR):c.982G>A (p.Val328Ile)
|
rs768925824
|
|
NM_000535.7(PMS2):c.-2C>T
|
rs876658209
|
|
NM_000535.7(PMS2):c.-5C>A
|
rs786202272
|
|
NM_000535.7(PMS2):c.1068G>A (p.Lys356=)
|
rs528499793
|
|
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile)
|
rs746889239
|
|
NM_000535.7(PMS2):c.1382C>T (p.Ala461Val)
|
rs1060503133
|
|
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1733G>A (p.Arg578His)
|
rs63750770
|
|
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)
|
rs764252217
|
|
NM_000535.7(PMS2):c.2007-3C>T
|
|
|
NM_000535.7(PMS2):c.24-4C>G
|
rs2345056
|
|
NM_000535.7(PMS2):c.354-12A>G
|
rs1554304135
|
|
NM_000535.7(PMS2):c.538-12T>G
|
rs1554302551
|
|
NM_000535.7(PMS2):c.706-11T>C
|
rs1185117521
|
|
NM_000535.7(PMS2):c.706-5T>C
|
rs1203452929
|
|
NM_000535.7(PMS2):c.75G>A (p.Gln25=)
|
rs1554306525
|
|
NM_000535.7(PMS2):c.779_780delinsTG (p.Ser260Leu)
|
rs730881920
|
|
NM_000540.3(RYR1):c.10564C>A (p.Leu3522Met)
|
rs200144997
|
|
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del)
|
rs760784102
|
|
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=)
|
rs2229141
|
|
NM_000546.6(TP53):c.376-4A>T
|
rs1221388024
|
|
NM_000546.6(TP53):c.783-4G>A
|
rs1060504160
|
|
NM_000546.6(TP53):c.931A>C (p.Asn311His)
|
rs1555525007
|
|
NM_000548.5(TSC2):c.2838-3T>C
|
rs553942147
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs)
|
rs747392139
|
|
NM_001048174.2(MUTYH):c.607-4C>T
|
rs1557474961
|
|
NM_001099404.2(SCN5A):c.615T>A (p.Tyr205Ter)
|
rs765669597
|
|
NM_001099404.2(SCN5A):c.655C>T (p.Arg219Ter)
|
rs577421914
|
|
NM_001276345.2(TNNT2):c.610-10C>T
|
rs375547142
|
|
NM_002474.3(MYH11):c.1249-15G>T
|
rs886051765
|
|
NM_002474.3(MYH11):c.2653-6G>A
|
rs200637980
|
|
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln)
|
rs762308378
|
|
NM_002474.3(MYH11):c.2860-5C>T
|
rs1223452979
|
|
NM_002474.3(MYH11):c.3651+6_3651+11del
|
rs371843272
|
|
NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu)
|
rs151058774
|
|
NM_002474.3(MYH11):c.4240_4242delinsACG (p.Ala1414Thr)
|
rs794728676
|
|
NM_002474.3(MYH11):c.727-11C>T
|
rs886051766
|
|
NM_002878.4(RAD51D):c.345+6T>C
|
rs1555568466
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1524+3A>G
|
rs1486137817
|
|
NM_003242.6(TGFBR2):c.383del (p.Lys128fs)
|
rs79375991
|
|
NM_003242.6(TGFBR2):c.550A>G (p.Ile184Val)
|
rs1371905176
|
|
NM_004329.3(BMPR1A):c.1343-5T>C
|
rs1554891558
|
|
NM_004329.3(BMPR1A):c.231-9C>T
|
rs763313220
|
|
NM_004329.3(BMPR1A):c.297G>T (p.Gly99=)
|
rs1251509897
|
|
NM_004329.3(BMPR1A):c.333+6A>T
|
rs1473659802
|
|
NM_004360.5(CDH1):c.1143G>A (p.Lys381=)
|
rs143727462
|
|
NM_004360.5(CDH1):c.1160A>G (p.Asn387Ser)
|
rs779426744
|
|
NM_004360.5(CDH1):c.1241C>G (p.Thr414Ser)
|
rs755571454
|
|
NM_004360.5(CDH1):c.1566-7C>G
|
rs747783435
|
|
NM_004360.5(CDH1):c.48+5_48+6delinsAT
|
rs1555509656
|
|
NM_004360.5(CDH1):c.48+5_48+6delinsGT
|
rs1555509656
|
|
NM_004415.4(DSP):c.1266+6G>A
|
rs73375345
|
|
NM_004415.4(DSP):c.8508_8517delinsGTCCCGCAGT (p.Gly2836_Ser2839=)
|
rs1561706189
|
|
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=)
|
rs886063224
|
|
NM_004656.4(BAP1):c.1857C>T (p.Gly619=)
|
rs116604051
|
|
NM_004656.4(BAP1):c.1887C>T (p.Pro629=)
|
rs1253470807
|
|
NM_004656.4(BAP1):c.821A>C (p.His274Pro)
|
rs565400314
|
|
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=)
|
rs748062476
|
|
NM_005359.6(SMAD4):c.455-8C>T
|
rs1057520412
|
|
NM_007194.4(CHEK2):c.1096-10T>C
|
rs1555913946
|
|
NM_007194.4(CHEK2):c.1260-20CT[3]
|
rs760037989
|
|
NM_007194.4(CHEK2):c.1260-6del
|
rs878854912
|
|
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])
|
rs587780181
|
|
NM_007194.4(CHEK2):c.593-11_593-7del
|
rs863224414
|
|
NM_007194.4(CHEK2):c.684-3T>C
|
rs1555921387
|
|
NM_007194.4(CHEK2):c.684-8C>T
|
rs1555921406
|
|
NM_007194.4(CHEK2):c.846T>C (p.His282=)
|
rs987815892
|
|
NM_007194.4(CHEK2):c.87A>G (p.Gln29=)
|
rs951525447
|
|
NM_007194.4(CHEK2):c.885A>G (p.Glu295=)
|
rs1555916935
|
|
NM_007294.4(BRCA1):c.*4C>T
|
rs1057520246
|
|
NM_007294.4(BRCA1):c.135-8dup
|
rs397507186
|
|
NM_007294.4(BRCA1):c.1405G>A (p.Ala469Thr)
|
rs397507187
|
|
NM_007294.4(BRCA1):c.1438_1452del (p.Asn480_Gly484del)
|
rs1567799598
|
|
NM_007294.4(BRCA1):c.1601A>G (p.Gln534Arg)
|
rs80357173
|
|
NM_007294.4(BRCA1):c.1912G>A (p.Glu638Lys)
|
rs80357005
|
|
NM_007294.4(BRCA1):c.2268G>T (p.Arg756Ser)
|
rs80356884
|
|
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg)
|
rs80357200
|
|
NM_007294.4(BRCA1):c.2773A>G (p.Ile925Val)
|
rs4986847
|
|
NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del)
|
rs80358333
|
|
NM_007294.4(BRCA1):c.301+1G>C
|
rs587782173
|
|
NM_007294.4(BRCA1):c.302-5T>C
|
rs778668665
|
|
NM_007294.4(BRCA1):c.3041T>C (p.Met1014Thr)
|
rs80357020
|
|
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly)
|
rs80357190
|
|
NM_007294.4(BRCA1):c.3179A>C (p.Glu1060Ala)
|
rs80357184
|
|
NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del)
|
rs80357575
|
|
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)
|
rs80358337
|
|
NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala)
|
rs80357037
|
|
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr)
|
rs483353090
|
|
NM_007294.4(BRCA1):c.4060AAT[1] (p.Asn1355del)
|
rs80358341
|
|
NM_007294.4(BRCA1):c.4610A>G (p.Gln1537Arg)
|
rs70953659
|
|
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His)
|
rs1265352633
|
|
NM_007294.4(BRCA1):c.483T>G (p.Thr161=)
|
rs1060504575
|
|
NM_007294.4(BRCA1):c.5152+7A>G
|
rs80358046
|
|
NM_007294.4(BRCA1):c.547+14del
|
rs273902771
|
|
NM_007294.4(BRCA1):c.670+8C>T
|
rs80358050
|
|
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro)
|
rs80357252
|
|
NM_024675.4(PALB2):c.1506G>C (p.Lys502Asn)
|
rs371142570
|
|
NM_024675.4(PALB2):c.1878A>G (p.Lys626=)
|
rs1567218624
|
|
NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr)
|
rs925044785
|
|
NM_024675.4(PALB2):c.2437A>G (p.Ile813Val)
|
rs766396469
|
|
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile)
|
rs536644825
|
|
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)
|
rs201657283
|
|
NM_024675.4(PALB2):c.48+5C>T
|
rs1555462488
|
|
NM_024675.4(PALB2):c.583A>G (p.Ile195Val)
|
rs760784181
|
|
NM_032043.3(BRIP1):c.2906-7T>C
|
rs1237575383
|
|
NM_032043.3(BRIP1):c.2948T>C (p.Ile983Thr)
|
rs587781417
|
|
NM_032043.3(BRIP1):c.487C>T (p.Pro163Ser)
|
rs1064795902
|
|
NM_032043.3(BRIP1):c.627+7A>G
|
rs1060504334
|
|
NM_032043.3(BRIP1):c.700AAG[1] (p.Lys235del)
|
rs876659379
|
|
NM_058216.3(RAD51C):c.1128A>G (p.Leu376=)
|
rs545024029
|
|
NM_058216.3(RAD51C):c.146-4T>C
|
rs2143716945
|
|
NM_058216.3(RAD51C):c.405-5G>A
|
rs1598459949
|
|
NM_058216.3(RAD51C):c.838-5T>C
|
rs975635861
|
|
NM_058216.3(RAD51C):c.904+4G>A
|
|
|
NM_058216.3(RAD51C):c.905-5C>G
|
rs371968149
|
|
NM_170707.4(LMNA):c.1749G>A (p.Ser583=)
|
rs970494454
|
|
NM_170707.4(LMNA):c.897C>T (p.Ile299=)
|
rs762718963
|
|
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
|
|
|
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
|
|
|
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
|
|
|
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
|
|
|
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup)
|
rs35574083
|
|