ClinVar Miner

Variants with conflicting interpretations "likely benign" from Color Diagnostics, LLC DBA Color Health and "uncertain significance" from any submitter

Minimum review status of the submission from Color Diagnostics, LLC DBA Color Health: Collection method of the submission from Color Diagnostics, LLC DBA Color Health:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1295
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HGVS dbSNP gnomAD frequency
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

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