ClinVar Miner

List of variants reported as likely benign for congenital limb malformation by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 796
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HGVS dbSNP gnomAD frequency
NM_020436.5(SALL4):c.540T>C (p.Asn180=) rs6013281 0.99661
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_021625.5(TRPV4):c.854-5C>T rs116401333 0.02337
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602 0.01700
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593 0.01683
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422 0.01643
NM_001378183.1(PIEZO2):c.6012C>T (p.Asp2004=) rs16975235 0.01635
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01461
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776 0.01328
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01289
NM_001164508.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236 0.01192
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile) rs34368668 0.01129
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01088
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_182961.4(SYNE1):c.402+11A>G rs80276170 0.01033
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_016213.5(TRIP4):c.981C>T (p.Thr327=) rs115922345 0.00975
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00909
NM_021939.4(FKBP10):c.1256+14G>C rs202121419 0.00906
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val) rs113439353 0.00852
NM_020812.4(DOCK6):c.3913C>T (p.Arg1305Cys) rs112911897 0.00801
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser) rs55963442 0.00777
NM_001018115.3(FANCD2):c.3105+15C>T rs460965 0.00770
NM_002472.3(MYH8):c.3686T>C (p.Met1229Thr) rs35962914 0.00723
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_002968.3(SALL1):c.3222G>A (p.Ala1074=) rs61731131 0.00636
NM_032634.4(PIGO):c.1120-15C>A rs77344591 0.00631
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_005105.5(RBM8A):c.68-6T>C rs112273321 0.00607
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_021625.5(TRPV4):c.1153-10C>T rs149541389 0.00547
NM_002465.4(MYBPC1):c.608+14A>G rs4448745 0.00545
NM_002465.4(MYBPC1):c.594T>C (p.Ser198=) rs79442861 0.00543
NM_004247.4(EFTUD2):c.1058+3_1058+7del rs536749831 0.00538
NM_014918.5(CHSY1):c.333G>A (p.Lys111=) rs117481449 0.00530
NM_002470.4(MYH3):c.1575C>T (p.Ile525=) rs34695778 0.00528
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_017837.4(PIGV):c.101C>T (p.Pro34Leu) rs139246652 0.00505
NM_000522.5(HOXA13):c.480G>A (p.Ala160=) rs537218194 0.00504
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474 0.00477
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_020812.4(DOCK6):c.885C>T (p.Asn295=) rs146599144 0.00449
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_001164508.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234 0.00437
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_006306.4(SMC1A):c.298+19A>G rs113817745 0.00432
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183 0.00415
NM_003632.3(CNTNAP1):c.327C>T (p.Asp109=) rs115552583 0.00411
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_002472.3(MYH8):c.1632T>C (p.Pro544=) rs144596237 0.00409
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_182961.4(SYNE1):c.20199+16C>T rs114739771 0.00395
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567 0.00393
NM_001378183.1(PIEZO2):c.3757+13A>G rs73389079 0.00391
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824 0.00366
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345 0.00363
NM_005445.4(SMC3):c.2644+6T>A rs201281088 0.00359
NM_005850.5(SF3B4):c.735C>T (p.Pro245=) rs113949235 0.00359
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala) rs149731356 0.00355
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val) rs150574055 0.00347
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_020812.4(DOCK6):c.1833-19C>G rs188183013 0.00332
NM_004629.2(FANCG):c.238C>T (p.Leu80=) rs115131067 0.00330
NM_020812.4(DOCK6):c.1289G>A (p.Arg430His) rs143655255 0.00330
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087 0.00329
NM_001164508.2(NEB):c.1675-9T>G rs75118047 0.00324
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00295
NM_020928.2(ZSWIM6):c.1722C>T (p.Asp574=) rs187525163 0.00290
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_014875.3(KIF14):c.4842C>T (p.Asp1614=) rs12024960 0.00284
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494 0.00284
NM_001271938.2(MEGF8):c.6481+11T>G rs138919410 0.00270
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096 0.00267
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973 0.00257
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_021922.3(FANCE):c.248+7C>A rs186563531 0.00255
NM_014875.3(KIF14):c.1087G>A (p.Val363Ile) rs77828651 0.00249
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) rs12941197 0.00245
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00217
NM_007294.4(BRCA1):c.-19-361C>T rs141625477 0.00217
NM_001079520.2(DACT1):c.930G>C (p.Gln310His) rs139223977 0.00212
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420 0.00210
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960 0.00195
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_005105.5(RBM8A):c.205+17C>A rs115417561 0.00191
NM_032444.4(SLX4):c.2328-9G>C rs73505419 0.00188
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=) rs144850468 0.00183
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_001164508.2(NEB):c.19285G>A (p.Ala6429Thr) rs149752325 0.00181
NM_003722.5(TP63):c.1788G>A (p.Ala596=) rs148577576 0.00180
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln) rs35363262 0.00180
NM_001164508.2(NEB):c.19286C>A (p.Ala6429Asp) rs139636644 0.00178
NM_001378414.1(HDAC4):c.2532+18G>A rs186981980 0.00178
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729 0.00178
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=) rs117598326 0.00163
NM_001018115.3(FANCD2):c.3560+20C>T rs55804542 0.00162
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_000921.5(PDE3A):c.1376G>A (p.Arg459Gln) rs141325069 0.00148
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_001079520.2(DACT1):c.769G>A (p.Glu257Lys) rs77323631 0.00146
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=) rs189411650 0.00141
NM_002968.3(SALL1):c.264C>T (p.Ser88=) rs143501736 0.00140
NM_004629.2(FANCG):c.646+12A>G rs17878604 0.00139
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_006265.3(RAD21):c.-32-1G>A rs16889042 0.00127
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_005445.4(SMC3):c.1671-6A>G rs200848781 0.00124
NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala) rs149803148 0.00121
NM_020436.5(SALL4):c.1950C>T (p.Gly650=) rs149008635 0.00121
NM_020436.5(SALL4):c.1353C>T (p.Ala451=) rs140110863 0.00120
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00118
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr) rs184556570 0.00117
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00115
NM_020436.5(SALL4):c.2166A>G (p.Leu722=) rs141708963 0.00110
NM_002334.4(LRP4):c.430+15C>T rs199835230 0.00108
NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu) rs556743028 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_007294.4(BRCA1):c.5277+78G>A rs80358107 0.00099
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_020436.5(SALL4):c.1497G>T (p.Thr499=) rs148435082 0.00096
NM_001164508.2(NEB):c.3987+11A>T rs116903097 0.00092
NM_198569.3(ADGRG6):c.354A>G (p.Leu118=) rs140723393 0.00091
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_020639.3(RIPK4):c.303G>A (p.Thr101=) rs2277792 0.00088
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_001164508.2(NEB):c.9052G>A (p.Asp3018Asn) rs192098032 0.00081
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555 0.00080
NM_002334.4(LRP4):c.4951+13G>C rs367744491 0.00079
NM_021922.3(FANCE):c.522G>A (p.Gly174=) rs145648734 0.00078
NM_002334.4(LRP4):c.1005C>T (p.Asn335=) rs141757569 0.00077
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_002334.4(LRP4):c.387C>T (p.Cys129=) rs80333596 0.00076
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00076
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366 0.00073
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) rs34936017 0.00070
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251 0.00070
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_001018115.3(FANCD2):c.2269+12A>G rs34751191 0.00067
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660 0.00064
NM_004380.3(CREBBP):c.4133+9G>A rs376602227 0.00063
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=) rs144639401 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_002334.4(LRP4):c.677-14T>C rs373597511 0.00059
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065 0.00058
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606 0.00053
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806 0.00053
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012 0.00053
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=) rs140844106 0.00051
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=) rs139207930 0.00050
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=) rs370565083 0.00049
NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala) rs547153228 0.00048
NM_020928.2(ZSWIM6):c.1472A>G (p.Asn491Ser) rs201912422 0.00048
NM_001018115.3(FANCD2):c.4038+8G>A rs190990145 0.00047
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340 0.00047
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) rs142304943 0.00046
NM_006306.4(SMC1A):c.1912-14C>T rs375109064 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_002968.3(SALL1):c.2331C>T (p.Asn777=) rs144747142 0.00045
NM_020436.5(SALL4):c.2268C>T (p.Ser756=) rs145078336 0.00044
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_003722.5(TP63):c.498C>T (p.Pro166=) rs146612442 0.00041
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00041
NM_032444.4(SLX4):c.2160+18C>T rs373726275 0.00040
NM_181486.4(TBX5):c.354T>C (p.Asp118=) rs151249768 0.00039
NM_182961.4(SYNE1):c.12411C>T (p.His4137=) rs751325537 0.00039
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596 0.00038
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=) rs146655918 0.00038
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=) rs3025679 0.00038
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_001113378.2(FANCI):c.1992+10T>C rs375345390 0.00036
NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=) rs144700510 0.00036
NM_000135.4(FANCA):c.543G>A (p.Ala181=) rs143314367 0.00035
NM_000141.5(FGFR2):c.2232C>T (p.Pro744=) rs142639988 0.00035
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_001018115.3(FANCD2):c.246C>T (p.Thr82=) rs371915501 0.00034
NM_001113378.2(FANCI):c.2291+12C>G rs369540539 0.00034
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=) rs150652786 0.00034
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_004826.4(ECEL1):c.411C>T (p.Arg137=) rs376256094 0.00033
NM_020436.5(SALL4):c.2835C>T (p.Asp945=) rs143702441 0.00033
NM_000136.3(FANCC):c.-78-18T>G rs560839822 0.00032
NM_000141.5(FGFR2):c.1986+7C>T rs199697707 0.00032
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_004380.3(CREBBP):c.3982+9C>T rs114668693 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_000135.4(FANCA):c.1225+12C>T rs200672872 0.00030
NM_000135.4(FANCA):c.1716-20T>C rs367726674 0.00030
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=) rs373461068 0.00029
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00029
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=) rs374507681 0.00029
NM_000135.4(FANCA):c.801T>C (p.Val267=) rs55660936 0.00028
NM_001378414.1(HDAC4):c.1534-9G>A rs375265585 0.00028
NM_001429.4(EP300):c.2380-18T>C rs189468196 0.00028
NM_000141.5(FGFR2):c.1761C>T (p.Ser587=) rs147173572 0.00027
NM_002968.3(SALL1):c.387C>T (p.Ala129=) rs147647889 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000141.5(FGFR2):c.1911C>T (p.Asn637=) rs149008039 0.00026
NM_001018115.3(FANCD2):c.1766+16C>T rs201040143 0.00026
NM_001113378.2(FANCI):c.1822-18C>T rs373603139 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=) rs369047997 0.00025
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097 0.00025
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741 0.00025
NM_002334.4(LRP4):c.273C>T (p.Asp91=) rs150401820 0.00025
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=) rs192743430 0.00024
NM_002968.3(SALL1):c.3729C>T (p.Asn1243=) rs148612488 0.00024
NM_004380.3(CREBBP):c.4251C>T (p.Tyr1417=) rs61731412 0.00024
NM_000141.5(FGFR2):c.64C>T (p.Arg22Trp) rs377570596 0.00023
NM_001018115.3(FANCD2):c.609T>C (p.Ala203=) rs374019283 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_032444.4(SLX4):c.1065G>A (p.Gln355=) rs200183071 0.00022
NM_001018115.3(FANCD2):c.696-18T>G rs56083801 0.00021
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=) rs144335505 0.00021
NM_004380.3(CREBBP):c.4560+14A>G rs200934101 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_020436.5(SALL4):c.447G>A (p.Ala149=) rs147838161 0.00021
NM_021922.3(FANCE):c.1316+10C>T rs200479051 0.00021
NM_024675.4(PALB2):c.1281T>C (p.Ala427=) rs138697796 0.00021
NM_004247.4(EFTUD2):c.106-17C>T rs190562796 0.00020
NM_006306.4(SMC1A):c.3438-7C>T rs782796392 0.00020
NM_032444.4(SLX4):c.465A>G (p.Glu155=) rs138512851 0.00020
NM_001003722.2(GLE1):c.1731C>T (p.Tyr577=) rs199722904 0.00019
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=) rs147952638 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_032444.4(SLX4):c.1389A>G (p.Lys463=) rs376668879 0.00019
NM_003722.5(TP63):c.1599C>T (p.Ser533=) rs758093495 0.00018
NM_032444.4(SLX4):c.2079C>T (p.Val693=) rs150206155 0.00018
NM_032444.4(SLX4):c.4545C>T (p.Asp1515=) rs142851654 0.00018
NM_016111.4(TELO2):c.2376C>T (p.Asp792=) rs200969710 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_032444.4(SLX4):c.5433C>T (p.Ala1811=) rs142477564 0.00017
NM_000135.4(FANCA):c.2152-20T>A rs200403206 0.00016
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=) rs768378979 0.00016
NM_001164508.2(NEB):c.21270G>T (p.Pro7090=) rs368887173 0.00016
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser) rs774996980 0.00016
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=) rs371656213 0.00016
NM_018062.4(FANCL):c.97-11A>G rs201875132 0.00016
NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=) rs745841768 0.00015
NM_001018115.3(FANCD2):c.888+9T>C rs777620616 0.00015
NM_001113378.2(FANCI):c.446-6T>G rs377255054 0.00015
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu) rs147083140 0.00015
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro) rs577305576 0.00015
NM_006306.4(SMC1A):c.1098G>A (p.Thr366=) rs140585416 0.00015
NM_024675.4(PALB2):c.1794G>A (p.Leu598=) rs182494675 0.00015
NM_032444.4(SLX4):c.5403G>C (p.Leu1801=) rs577770118 0.00015
NM_001018115.3(FANCD2):c.571-19A>T rs141566218 0.00014
NM_002334.4(LRP4):c.4584-4G>A rs368518969 0.00014
NM_013352.4(DSE):c.240C>T (p.Ser80=) rs143347973 0.00014
NM_017837.4(PIGV):c.473G>A (p.Ser158Asn) rs201332799 0.00014
NM_018062.4(FANCL):c.1021-6T>C rs377052216 0.00014
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=) rs376173540 0.00014
NM_001018115.3(FANCD2):c.206-20C>A rs200170760 0.00013
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=) rs149395670 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_000135.4(FANCA):c.1776+11G>A rs377308050 0.00012
NM_000141.5(FGFR2):c.748+18C>T rs377269009 0.00012
NM_002334.4(LRP4):c.2436T>C (p.Asp812=) rs201159730 0.00012
NM_002334.4(LRP4):c.447C>T (p.Ser149=) rs763246909 0.00012
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386 0.00012
NM_170707.4(LMNA):c.811-12C>T rs372962650 0.00012
NM_000135.4(FANCA):c.1471-20G>A rs374579239 0.00011
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067 0.00011
NM_000136.3(FANCC):c.1534-9T>C rs536836859 0.00011
NM_000136.3(FANCC):c.250+16G>A rs371993188 0.00011
NM_001018115.3(FANCD2):c.4281+81G>A rs145889419 0.00011
NM_003722.5(TP63):c.1575C>T (p.Leu525=) rs147389337 0.00011
NM_024675.4(PALB2):c.1455T>G (p.Thr485=) rs566105533 0.00011
NM_032444.4(SLX4):c.2241C>T (p.Ala747=) rs143790956 0.00011
NM_000135.4(FANCA):c.1755C>G (p.Pro585=) rs144704750 0.00010
NM_000141.5(FGFR2):c.454+15G>A rs200275522 0.00010
NM_001018113.3(FANCB):c.504C>G (p.Ser168=) rs373738816 0.00010
NM_001378414.1(HDAC4):c.111G>A (p.Ala37=) rs540431173 0.00010
NM_002334.4(LRP4):c.3267C>T (p.Asp1089=) rs150616375 0.00010
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=) rs143496445 0.00010
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 0.00010
NM_004629.2(FANCG):c.729T>C (p.Pro243=) rs199736443 0.00010
NM_005055.5(RAPSN):c.831C>T (p.Thr277=) rs148078235 0.00010
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=) rs763571736 0.00010
NM_032444.4(SLX4):c.1563T>C (p.Pro521=) rs146360238 0.00010
NM_032444.4(SLX4):c.1602C>T (p.Ser534=) rs201754095 0.00010
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000135.4(FANCA):c.1776+13C>T rs371272310 0.00009
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=) rs138144828 0.00009
NM_000136.3(FANCC):c.251-20T>C rs370867462 0.00009
NM_001018115.3(FANCD2):c.3165C>T (p.Tyr1055=) rs375929975 0.00009
NM_001113378.2(FANCI):c.165C>T (p.Pro55=) rs139039885 0.00009
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=) rs61748895 0.00009
NM_002334.4(LRP4):c.2216-14C>T rs369714698 0.00009
NM_002334.4(LRP4):c.426G>A (p.Gln142=) rs371955690 0.00009
NM_002968.3(SALL1):c.1227C>T (p.Ile409=) rs368412604 0.00009
NM_004380.3(CREBBP):c.1143G>A (p.Ser381=) rs147342740 0.00009
NM_004380.3(CREBBP):c.2118A>G (p.Gly706=) rs778065124 0.00009
NM_004380.3(CREBBP):c.3204C>T (p.Asn1068=) rs150189749 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_017617.5(NOTCH1):c.4586+10C>T rs760225110 0.00009
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=) rs377010221 0.00009
NM_032444.4(SLX4):c.1641G>A (p.Thr547=) rs200497436 0.00009
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_181486.4(TBX5):c.147+9A>T rs375693592 0.00009
NM_000136.3(FANCC):c.1533+13G>A rs200515307 0.00008
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) rs201633684 0.00008
NM_001018115.3(FANCD2):c.439-18C>A rs184060118 0.00008
NM_001113378.2(FANCI):c.669+14A>G rs369804967 0.00008
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757 0.00008
NM_002968.3(SALL1):c.3330T>C (p.Ser1110=) rs374166565 0.00008
NM_003722.5(TP63):c.882+19A>T rs200703504 0.00008
NM_017617.5(NOTCH1):c.5018+13C>T rs752508890 0.00008
NM_018486.3(HDAC8):c.384C>T (p.Asp128=) rs1250641302 0.00008
NM_021922.3(FANCE):c.1238-10C>T rs765940689 0.00008
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=) rs746123129 0.00008
NM_032444.4(SLX4):c.5229G>A (p.Ser1743=) rs140231739 0.00008
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) rs369765552 0.00007
NM_001164508.2(NEB):c.19732-8C>T rs137934821 0.00007
NM_002472.3(MYH8):c.479T>A (p.Ile160Asn) rs760980150 0.00007
NM_002968.3(SALL1):c.1953C>T (p.Pro651=) rs147169088 0.00007
NM_002968.3(SALL1):c.3084A>G (p.Pro1028=) rs377643763 0.00007
NM_004380.3(CREBBP):c.1633T>C (p.Leu545=) rs371285951 0.00007
NM_004380.3(CREBBP):c.2439G>A (p.Pro813=) rs763702839 0.00007
NM_004380.3(CREBBP):c.3370-17A>T rs767500889 0.00007
NM_005105.5(RBM8A):c.128-9C>T rs185927426 0.00007
NM_006306.4(SMC1A):c.1911+12C>G rs200324148 0.00007
NM_006306.4(SMC1A):c.2562+17T>G rs782781158 0.00007
NM_006306.4(SMC1A):c.3438-18C>T rs781873202 0.00007
NM_017617.5(NOTCH1):c.2207+15C>T rs187086513 0.00007
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=) rs374921637 0.00007
NM_020436.5(SALL4):c.696C>T (p.Thr232=) rs376488018 0.00007
NM_023110.3(FGFR1):c.359-13C>G rs376369060 0.00007
NM_024675.4(PALB2):c.2032C>T (p.Leu678=) rs376189676 0.00007
NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu) rs534528576 0.00007
NM_032444.4(SLX4):c.2034T>G (p.Val678=) rs200278096 0.00007
NM_032444.4(SLX4):c.4344C>T (p.Pro1448=) rs368388100 0.00007
NM_170707.4(LMNA):c.1488+7G>A rs374209100 0.00007
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000135.4(FANCA):c.1901-10C>T rs766654290 0.00006
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906 0.00006
NM_000135.4(FANCA):c.2778+12T>C rs775047268 0.00006
NM_000135.4(FANCA):c.3408+16A>G rs373636902 0.00006
NM_000141.5(FGFR2):c.420G>A (p.Ala140=) rs765024365 0.00006
NM_001018115.3(FANCD2):c.889-9T>A rs767122938 0.00006
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=) rs563218968 0.00006
NM_001113378.2(FANCI):c.2890-19G>A rs758850736 0.00006
NM_002334.4(LRP4):c.1048+20G>A rs199512829 0.00006
NM_002334.4(LRP4):c.177C>T (p.Asp59=) rs373625784 0.00006
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=) rs753496184 0.00006
NM_002968.3(SALL1):c.351C>T (p.Asn117=) rs145806303 0.00006
NM_002968.3(SALL1):c.618G>A (p.Ala206=) rs773443491 0.00006
NM_003722.5(TP63):c.1095G>A (p.Ser365=) rs748609799 0.00006
NM_004260.4(RECQL4):c.1170T>C (p.Phe390=) rs768991485 0.00006
NM_004380.3(CREBBP):c.435C>T (p.Pro145=) rs201435679 0.00006
NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=) rs139365408 0.00006
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe) rs148835205 0.00006
NM_020436.5(SALL4):c.262C>T (p.Leu88=) rs755362179 0.00006
NM_020436.5(SALL4):c.2913G>A (p.Gln971=) rs773001598 0.00006
NM_021922.3(FANCE):c.901-20C>T rs754828130 0.00006
NM_021922.3(FANCE):c.954A>G (p.Glu318=) rs149719310 0.00006
NM_021922.3(FANCE):c.970-17C>A rs758179752 0.00006
NM_023110.3(FGFR1):c.1285-15C>T rs760069564 0.00006
NM_023110.3(FGFR1):c.2049-13C>T rs756845879 0.00006
NM_024675.4(PALB2):c.1935G>A (p.Glu645=) rs141707455 0.00006
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=) rs45565738 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_032444.4(SLX4):c.2898G>A (p.Gln966=) rs748700450 0.00006
NM_032444.4(SLX4):c.4335G>C (p.Arg1445=) rs139377113 0.00006
NM_032634.4(PIGO):c.1662G>A (p.Leu554=) rs369433160 0.00006
NM_181486.4(TBX5):c.1476C>T (p.Gly492=) rs369034176 0.00006
NM_000135.4(FANCA):c.2317-8C>T rs753766357 0.00005
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001018115.3(FANCD2):c.2022-4G>A rs748941966 0.00005
NM_001018115.3(FANCD2):c.3850-17G>T rs369702202 0.00005
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) rs376956791 0.00005
NM_001113378.2(FANCI):c.2946C>T (p.Ala982=) rs762453164 0.00005
NM_001113378.2(FANCI):c.3007-7A>G rs778906473 0.00005
NM_001113378.2(FANCI):c.534C>T (p.Thr178=) rs754733731 0.00005
NM_001164508.2(NEB):c.1675-4C>G rs369915027 0.00005
NM_001999.4(FBN2):c.5674+18T>G rs199749609 0.00005
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=) rs148361325 0.00005
NM_002334.4(LRP4):c.4584-15T>C rs777314555 0.00005
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=) rs200514161 0.00005
NM_003722.5(TP63):c.1626G>A (p.Pro542=) rs370637253 0.00005
NM_003722.5(TP63):c.654A>G (p.Pro218=) rs764672477 0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
NM_004629.2(FANCG):c.1158C>G (p.Pro386=) rs201041980 0.00005
NM_006306.4(SMC1A):c.2646G>A (p.Ser882=) rs1193658492 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103 0.00005
NM_021922.3(FANCE):c.210G>A (p.Glu70=) rs1008512809 0.00005
NM_032444.4(SLX4):c.237T>C (p.Ala79=) rs375620914 0.00005
NM_000135.4(FANCA):c.2602-16T>G rs762865666 0.00004
NM_000135.4(FANCA):c.3239+7C>T rs775293779 0.00004
NM_001018115.3(FANCD2):c.2058G>A (p.Leu686=) rs773593671 0.00004
NM_001018115.3(FANCD2):c.695+19A>G rs369890094 0.00004
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=) rs139857614 0.00004
NM_001113378.2(FANCI):c.993G>A (p.Lys331=) rs146916445 0.00004
NM_001164508.2(NEB):c.5452-4A>G rs376623225 0.00004
NM_002334.4(LRP4):c.5088-20C>T rs370004451 0.00004
NM_002968.3(SALL1):c.2565T>G (p.Pro855=) rs778734691 0.00004
NM_002968.3(SALL1):c.3231C>T (p.Pro1077=) rs148808830 0.00004
NM_004380.3(CREBBP):c.3060+9C>T rs372291994 0.00004
NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=) rs748072121 0.00004
NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=) rs745992971 0.00004
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg) rs200677800 0.00004
NM_004629.2(FANCG):c.795A>T (p.Ala265=) rs537570311 0.00004
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=) rs763332387 0.00004
NM_006306.4(SMC1A):c.109+13T>G rs782668468 0.00004
NM_006306.4(SMC1A):c.854+17G>A rs781860125 0.00004
NM_007294.4(BRCA1):c.-19-3A>G rs273898669 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=) rs555773558 0.00004
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=) rs369470875 0.00004
NM_018062.4(FANCL):c.375-15T>C rs767038810 0.00004
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys) rs139801716 0.00004
NM_020436.5(SALL4):c.2385C>T (p.Ala795=) rs142446452 0.00004
NM_023110.3(FGFR1):c.621+7G>T rs377200873 0.00004
NM_023110.3(FGFR1):c.92-14C>T rs547772178 0.00004
NM_024675.4(PALB2):c.2834+13C>A rs551516577 0.00004
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=) rs141570833 0.00004
NM_024675.4(PALB2):c.900A>G (p.Thr300=) rs771660444 0.00004
NM_032444.4(SLX4):c.1764C>T (p.His588=) rs201638593 0.00004
NM_032444.4(SLX4):c.1824G>A (p.Glu608=) rs1028896815 0.00004
NM_032444.4(SLX4):c.4456A>C (p.Arg1486=) rs200536796 0.00004
NM_032444.4(SLX4):c.4740-5G>A rs372656323 0.00004
NM_032444.4(SLX4):c.5382G>A (p.Ser1794=) rs368848191 0.00004
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=) rs201000407 0.00004
NM_058216.3(RAD51C):c.546T>G (p.Leu182=) rs1476282276 0.00004
NM_170707.4(LMNA):c.1299C>T (p.His433=) rs61217436 0.00004
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000135.4(FANCA):c.12G>C (p.Ser4=) rs1009539881 0.00003
NM_000135.4(FANCA):c.2964G>C (p.Leu988=) rs751495133 0.00003
NM_000135.4(FANCA):c.3349-19G>T rs377180908 0.00003
NM_000135.4(FANCA):c.3627-9C>T rs547300201 0.00003
NM_000135.4(FANCA):c.426+13C>T rs755598667 0.00003
NM_000136.3(FANCC):c.1330-6G>T rs1223668739 0.00003
NM_000141.5(FGFR2):c.1086G>A (p.Ala362=) rs151250769 0.00003
NM_000141.5(FGFR2):c.1545C>T (p.Ala515=) rs778789088 0.00003
NM_001018115.3(FANCD2):c.2716-15G>A rs771386311 0.00003
NM_001018115.3(FANCD2):c.3466+9C>G rs33998487 0.00003
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=) rs768234660 0.00003
NM_001113378.2(FANCI):c.705C>T (p.Ala235=) rs542117175 0.00003
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003
NM_002968.3(SALL1):c.1565C>T (p.Thr522Met) rs200304033 0.00003
NM_002968.3(SALL1):c.219C>T (p.Ile73=) rs774483464 0.00003
NM_002968.3(SALL1):c.3771C>T (p.Asn1257=) rs145423593 0.00003
NM_003722.5(TP63):c.366G>A (p.Gln122=) rs201774402 0.00003
NM_003722.5(TP63):c.402T>C (p.Tyr134=) rs201239102 0.00003
NM_003722.5(TP63):c.714G>A (p.Thr238=) rs773030906 0.00003
NM_003722.5(TP63):c.992+8G>A rs192488893 0.00003
NM_004380.3(CREBBP):c.2400G>A (p.Pro800=) rs756570921 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_006306.4(SMC1A):c.2059-9T>C rs782041729 0.00003
NM_006306.4(SMC1A):c.429T>C (p.Ile143=) rs782366028 0.00003
NM_018062.4(FANCL):c.471+12G>A rs369756342 0.00003
NM_020436.5(SALL4):c.42G>C (p.Ser14=) rs137903141 0.00003
NM_021922.3(FANCE):c.1092C>T (p.Thr364=) rs776318917 0.00003
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=) rs777061347 0.00003
NM_023110.3(FGFR1):c.2186+19C>T rs776791517 0.00003
NM_023110.3(FGFR1):c.456T>C (p.Ala152=) rs369175953 0.00003
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) rs754720030 0.00003
NM_032444.4(SLX4):c.2022C>T (p.Leu674=) rs139900828 0.00003
NM_032444.4(SLX4):c.4185C>T (p.Val1395=) rs993089915 0.00003
NM_032444.4(SLX4):c.4599T>C (p.Ala1533=) rs1320958776 0.00003
NM_058216.3(RAD51C):c.705+14T>C rs771168730 0.00003
NM_058216.3(RAD51C):c.905-19T>C rs368114768 0.00003
NM_170707.4(LMNA):c.1380+18G>A rs777846700 0.00003
NM_170707.4(LMNA):c.1381-13A>G rs750192865 0.00003
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=) rs1057522378 0.00002
NM_000135.4(FANCA):c.1236G>A (p.Ala412=) rs371993688 0.00002
NM_000135.4(FANCA):c.2151+20A>G rs374555419 0.00002
NM_000135.4(FANCA):c.3627-17C>T rs754751562 0.00002
NM_000135.4(FANCA):c.57G>C (p.Arg19=) rs930955916 0.00002
NM_000135.4(FANCA):c.6C>G (p.Ser2=) rs982258436 0.00002
NM_000135.4(FANCA):c.888G>A (p.Arg296=) rs942855447 0.00002
NM_000136.3(FANCC):c.165+17A>G rs1046183823 0.00002
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=) rs1034395123 0.00002
NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=) rs766286504 0.00002
NM_001018115.3(FANCD2):c.377+17T>C rs45593431 0.00002
NM_001018115.3(FANCD2):c.469T>C (p.Leu157=) rs373600764 0.00002
NM_001113378.2(FANCI):c.1112+8G>C rs761741904 0.00002
NM_001113378.2(FANCI):c.1513-16A>C rs768296894 0.00002
NM_001113378.2(FANCI):c.1923G>A (p.Leu641=) rs750462548 0.00002
NM_001113378.2(FANCI):c.976-5T>C rs775680372 0.00002
NM_002334.4(LRP4):c.3939C>T (p.Cys1313=) rs779892727 0.00002
NM_004380.3(CREBBP):c.2464-7C>G rs772258017 0.00002
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser) rs779000839 0.00002
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp) rs774653315 0.00002
NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=) rs758454751 0.00002
NM_006306.4(SMC1A):c.1578A>G (p.Thr526=) rs1210222346 0.00002
NM_006306.4(SMC1A):c.2124G>A (p.Leu708=) rs1309209851 0.00002
NM_006306.4(SMC1A):c.2598C>A (p.Thr866=) rs781991944 0.00002
NM_006306.4(SMC1A):c.915C>T (p.Thr305=) rs782522248 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_021922.3(FANCE):c.399C>T (p.Leu133=) rs1056749845 0.00002
NM_023110.3(FGFR1):c.1663+10G>A rs901498652 0.00002
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=) rs774683007 0.00002
NM_023110.3(FGFR1):c.621+19G>A rs945311072 0.00002
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=) rs748363227 0.00002
NM_032444.4(SLX4):c.1977G>A (p.Ser659=) rs572117922 0.00002
NM_058216.3(RAD51C):c.1089G>A (p.Leu363=) rs559647198 0.00002
NM_170707.4(LMNA):c.1857T>C (p.Ser619=) rs368581237 0.00002
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=) rs779075029 0.00001
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=) rs786201237 0.00001
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=) rs762458631 0.00001
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=) rs750651726 0.00001
NM_000135.4(FANCA):c.1007-17T>C rs760059831 0.00001
NM_000135.4(FANCA):c.1360-12C>T rs951725614 0.00001
NM_000135.4(FANCA):c.1471-8A>G rs374717514 0.00001
NM_000135.4(FANCA):c.1701C>T (p.Thr567=) rs745466726 0.00001
NM_000135.4(FANCA):c.2022G>A (p.Ser674=) rs371997754 0.00001
NM_000135.4(FANCA):c.207T>C (p.Cys69=) rs941660593 0.00001
NM_000135.4(FANCA):c.2247C>T (p.Phe749=) rs772842754 0.00001
NM_000135.4(FANCA):c.2322G>A (p.Pro774=) rs931091451 0.00001
NM_000135.4(FANCA):c.2481G>A (p.Arg827=) rs749895479 0.00001
NM_000135.4(FANCA):c.2852+13A>T rs189890126 0.00001
NM_000135.4(FANCA):c.2937T>C (p.Ala979=) rs762638564 0.00001
NM_000135.4(FANCA):c.3192C>T (p.Ser1064=) rs768502785 0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057 0.00001
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=) rs946344673 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
NM_000135.4(FANCA):c.4251C>T (p.His1417=) rs752333498 0.00001
NM_000135.4(FANCA):c.483C>T (p.Phe161=) rs769389376 0.00001
NM_000135.4(FANCA):c.894-10G>A rs751912856 0.00001
NM_000136.3(FANCC):c.1534-18C>T rs1289718209 0.00001
NM_000136.3(FANCC):c.166-9C>G rs372507085 0.00001
NM_000136.3(FANCC):c.687-15A>C rs765327075 0.00001
NM_000141.5(FGFR2):c.1155C>G (p.Val385=) rs531426519 0.00001
NM_000141.5(FGFR2):c.1335G>T (p.Val445=) rs1460282965 0.00001
NM_000751.3(CHRND):c.132C>G (p.Pro44=) rs774771779 0.00001
NM_001018115.3(FANCD2):c.1414-4A>G rs781613701 0.00001
NM_001018115.3(FANCD2):c.1698C>T (p.Thr566=) rs769844392 0.00001
NM_001018115.3(FANCD2):c.3126C>T (p.His1042=) rs552885346 0.00001
NM_001018115.3(FANCD2):c.3441T>C (p.Ala1147=) rs533541893 0.00001
NM_001018115.3(FANCD2):c.3459A>G (p.Glu1153=) rs570459552 0.00001
NM_001018115.3(FANCD2):c.3963+11A>G rs945877549 0.00001
NM_001018115.3(FANCD2):c.784-9A>G rs1388537203 0.00001
NM_001113378.2(FANCI):c.3059-17T>A rs778641563 0.00001
NM_001113378.2(FANCI):c.3592-16C>T rs754610218 0.00001
NM_001113378.2(FANCI):c.3592-9G>A rs200021557 0.00001
NM_001113378.2(FANCI):c.3652-9T>C rs971308997 0.00001
NM_002334.4(LRP4):c.1049-6G>C rs775792196 0.00001
NM_002334.4(LRP4):c.1310-7T>A rs1555174059 0.00001
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 0.00001
NM_002334.4(LRP4):c.1815C>T (p.Ile605=) rs776484339 0.00001
NM_002334.4(LRP4):c.2424+13G>A rs374365893 0.00001
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=) rs745991521 0.00001
NM_002334.4(LRP4):c.339C>T (p.Asp113=) rs368971854 0.00001
NM_002968.3(SALL1):c.2259C>T (p.Tyr753=) rs1015061989 0.00001
NM_002968.3(SALL1):c.537C>T (p.Leu179=) rs200539812 0.00001
NM_003722.5(TP63):c.156A>G (p.Pro52=) rs780898702 0.00001
NM_003722.5(TP63):c.992+4A>C rs534974406 0.00001
NM_004380.3(CREBBP):c.2064G>A (p.Pro688=) rs766050154 0.00001
NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=) rs1447337021 0.00001
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.6450G>A (p.Pro2150=) rs371497730 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_004380.3(CREBBP):c.960C>T (p.Thr320=) rs898885851 0.00001
NM_004629.2(FANCG):c.1086C>T (p.Asp362=) rs376623996 0.00001
NM_004629.2(FANCG):c.124T>C (p.Leu42=) rs775053536 0.00001
NM_004629.2(FANCG):c.1365C>G (p.Thr455=) rs767385265 0.00001
NM_004629.2(FANCG):c.1433+12G>A rs201070684 0.00001
NM_004629.2(FANCG):c.1818C>T (p.Asp606=) rs766524415 0.00001
NM_004629.2(FANCG):c.549T>C (p.Thr183=) rs1163330730 0.00001
NM_004991.4(MECOM):c.2352T>C (p.Ser784=) rs370860789 0.00001
NM_018062.4(FANCL):c.1093-19_1093-9dup rs771654902 0.00001
NM_018062.4(FANCL):c.525C>T (p.Ala175=) rs757892335 0.00001
NM_018062.4(FANCL):c.621C>T (p.Ile207=) rs374195602 0.00001
NM_018062.4(FANCL):c.903+10A>G rs779834767 0.00001
NM_020436.5(SALL4):c.609C>A (p.Ala203=) rs200416079 0.00001
NM_021922.3(FANCE):c.1053T>G (p.Leu351=) rs755165473 0.00001
NM_021922.3(FANCE):c.1237+20C>G rs755688409 0.00001
NM_021922.3(FANCE):c.1384-14C>T rs558453150 0.00001
NM_021922.3(FANCE):c.324G>A (p.Ser108=) rs762826105 0.00001
NM_021922.3(FANCE):c.999C>T (p.Leu333=) rs776082827 0.00001
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=) rs756104594 0.00001
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=) rs546318124 0.00001
NM_023110.3(FGFR1):c.1978-13G>A rs761708658 0.00001
NM_023110.3(FGFR1):c.1978-16C>T rs764971696 0.00001
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=) rs1193961883 0.00001
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=) rs369782405 0.00001
NM_024675.4(PALB2):c.1164T>C (p.Pro388=) rs1205215998 0.00001
NM_024675.4(PALB2):c.195G>A (p.Pro65=) rs751176316 0.00001
NM_024675.4(PALB2):c.2587-12C>T rs1266683395 0.00001
NM_024675.4(PALB2):c.2784G>A (p.Val928=) rs763411245 0.00001
NM_024675.4(PALB2):c.2881C>T (p.Leu961=) rs61755166 0.00001
NM_024675.4(PALB2):c.2985A>T (p.Ala995=) rs786202892 0.00001
NM_024675.4(PALB2):c.3350+16T>G rs515726115 0.00001
NM_024675.4(PALB2):c.735G>A (p.Ala245=) rs371612049 0.00001
NM_032444.4(SLX4):c.1872C>T (p.Ser624=) rs767618166 0.00001
NM_032444.4(SLX4):c.2289T>C (p.Pro763=) rs1389488864 0.00001
NM_032444.4(SLX4):c.2724G>A (p.Pro908=) rs760071419 0.00001
NM_032444.4(SLX4):c.279C>G (p.Thr93=) rs543091261 0.00001
NM_032444.4(SLX4):c.3064C>T (p.Leu1022=) rs1391997347 0.00001
NM_032444.4(SLX4):c.3105C>T (p.Phe1035=) rs1313995893 0.00001
NM_032444.4(SLX4):c.3588T>C (p.Asp1196=) rs112016711 0.00001
NM_032444.4(SLX4):c.3634G>A (p.Ala1212Thr) rs574844562 0.00001
NM_032444.4(SLX4):c.3741G>A (p.Glu1247=) rs769032315 0.00001
NM_032444.4(SLX4):c.4824A>G (p.Ser1608=) rs767845523 0.00001
NM_032444.4(SLX4):c.5214G>A (p.Gly1738=) rs369714623 0.00001
NM_058216.3(RAD51C):c.537C>T (p.His179=) rs372385738 0.00001
NM_058216.3(RAD51C):c.79C>T (p.Leu27=) rs786201775 0.00001
NM_058216.3(RAD51C):c.904+16G>C rs929872458 0.00001
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00001
NM_170707.4(LMNA):c.1155G>A (p.Glu385=) rs878855232 0.00001
NM_170707.4(LMNA):c.1157+19G>A rs757715731 0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958 0.00001
NM_170707.4(LMNA):c.153G>T (p.Ser51=) rs751886390 0.00001
NM_170707.4(LMNA):c.1662G>A (p.Glu554=) rs201936898 0.00001
NM_170707.4(LMNA):c.1699-9C>T rs776616872 0.00001
NM_170707.4(LMNA):c.1731T>C (p.Ala577=) rs776066211 0.00001
NM_170707.4(LMNA):c.369G>A (p.Lys123=) rs367938270 0.00001
NM_170707.4(LMNA):c.96G>A (p.Lys32=) rs775429079 0.00001
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=) rs370421580 0.00001
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273 0.00001
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=) rs370591460
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=) rs80359793
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=) rs786201328
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1290G>T (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1360-4A>G rs746911316
NM_000135.4(FANCA):c.1755C>T (p.Pro585=) rs144704750
NM_000135.4(FANCA):c.2015-4G>A rs373954227
NM_000135.4(FANCA):c.2127G>A (p.Pro709=) rs771226546
NM_000135.4(FANCA):c.2151+7G>A rs2039330078
NM_000135.4(FANCA):c.2286C>T (p.Leu762=) rs1419118181
NM_000135.4(FANCA):c.2496C>T (p.Phe832=) rs2039260982
NM_000135.4(FANCA):c.2504+12_2504+14del rs1023581563
NM_000135.4(FANCA):c.2602-18G>C rs774316884
NM_000135.4(FANCA):c.2602-19G>C rs17233225
NM_000135.4(FANCA):c.2779-5C>G rs753286882
NM_000135.4(FANCA):c.2853-4C>A rs1289126600
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=) rs1302242291
NM_000135.4(FANCA):c.3239+11C>G rs200232122
NM_000135.4(FANCA):c.3409-18C>T rs762166434
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=) rs776001484
NM_000135.4(FANCA):c.3822C>A (p.Thr1274=) rs1382340096
NM_000135.4(FANCA):c.523-37TTGTTT[2] rs530849202
NM_000135.4(FANCA):c.558C>T (p.His186=) rs149159377
NM_000135.4(FANCA):c.710-20_710-19del rs2040524550
NM_000135.4(FANCA):c.924C>A (p.Gly308=) rs143255238
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1503C>T (p.Gly501=) rs2134454633
NM_000136.3(FANCC):c.843+12G>A rs2135164340
NM_000136.3(FANCC):c.896+14T>C rs2134966492
NM_000141.5(FGFR2):c.1356T>A (p.Ser452=) rs2134060289
NM_000141.5(FGFR2):c.1746C>T (p.Pro582=) rs369850306
NM_000141.5(FGFR2):c.1987-20A>T rs772633227
NM_000141.5(FGFR2):c.390C>G (p.Ser130=) rs1029635273
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup) rs760471055
NM_000522.5(HOXA13):c.234T>A (p.Ala78=) rs1308135144
NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del) rs35861510
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=) rs964099207
NM_001018113.3(FANCB):c.706G>A (p.Val236Met) rs746389250
NM_001018115.3(FANCD2):c.1614A>G (p.Thr538=) rs141824395
NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=) rs151224882
NM_001113378.2(FANCI):c.1263C>A (p.Leu421=) rs376956791
NM_001113378.2(FANCI):c.1699-17del rs746745862
NM_001113378.2(FANCI):c.3537+19C>G rs2054711237
NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=) rs760364969
NM_001113378.2(FANCI):c.3652-10A>T rs202231175
NM_001113378.2(FANCI):c.3720+14A>G rs200012909
NM_001113378.2(FANCI):c.822C>T (p.His274=) rs2053064054
NM_001164508.2(NEB):c.14827-14CT[2] rs536426422
NM_001378183.1(PIEZO2):c.2170-18del rs11468237
NM_001999.4(FBN2):c.7841-14G>A rs751308498
NM_002334.4(LRP4):c.200-26TTTTC[2] rs760673637
NM_002334.4(LRP4):c.3004+18C>T rs2306028
NM_002334.4(LRP4):c.3278-8C>T rs1941033938
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=) rs142054182
NM_002968.3(SALL1):c.3322G>A (p.Val1108Ile) rs148931484
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup) rs113614842
NM_003289.4(TPM2):c.564-20_564-19dup rs3215700
NM_003289.4(TPM2):c.773-4_773-3dup rs35401252
NM_003632.3(CNTNAP1):c.2340C>A (p.Gly780=) rs141352323
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_003722.5(TP63):c.20G>T (p.Arg7Leu) rs568702479
NM_004380.3(CREBBP):c.1095T>C (p.His365=) rs565069106
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=) rs932933039
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup) rs779647460
NM_004380.3(CREBBP):c.6621_6629del (p.Gln2214_Gln2216del) rs727503890
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=) rs372866305
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004629.2(FANCG):c.511-10_511-8del rs1384885358
NM_004629.2(FANCG):c.511-6dup rs376732298
NM_004629.2(FANCG):c.81C>T (p.Ala27=) rs1060504372
NM_004629.2(FANCG):c.957G>C (p.Pro319=) rs145092954
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=) rs376391395
NM_006265.3(RAD21):c.815-27dup rs35902828
NM_006265.3(RAD21):c.815-6_815-5del rs35902828
NM_006306.4(SMC1A):c.3450C>A (p.Ala1150=) rs142611198
NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=) rs2146581314
NM_006306.4(SMC1A):c.951G>A (p.Lys317=) rs2146604793
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.3075A>C (p.Thr1025=) rs786201258
NM_007294.4(BRCA1):c.4185+11TG[5] rs273900723
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=) rs879255493
NM_016653.3(MAP3K20):c.1360-14_1360-9del rs150855284
NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=) rs762533002
NM_018062.4(FANCL):c.472-15A>G rs374750427
NM_020436.5(SALL4):c.1779G>T (p.Pro593=) rs147254025
NM_020436.5(SALL4):c.411C>G (p.Gly137=) rs201560082
NM_020436.5(SALL4):c.762C>T (p.Ala254=) rs141546409
NM_020812.4(DOCK6):c.2505C>T (p.Tyr835=) rs200378092
NM_020928.2(ZSWIM6):c.498A>G (p.Ala166=) rs964738831
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) rs45451605
NM_023110.3(FGFR1):c.2187-19C>T rs376583717
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del) rs138489552
NM_024675.4(PALB2):c.108+7_108+8delinsAT rs2142459585
NM_024675.4(PALB2):c.1482T>C (p.Thr494=) rs2142414557
NM_024675.4(PALB2):c.168T>C (p.Asp56=) rs1203135643
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.4(PALB2):c.18G>A (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.212-24TA[4] rs751741705
NM_024675.4(PALB2):c.2424A>C (p.Gly808=) rs1060504714
NM_024675.4(PALB2):c.2834+13C>G rs551516577
NM_024675.4(PALB2):c.3204G>T (p.Gly1068=) rs786203475
NM_032043.3(BRIP1):c.2905+17C>A rs1458780264
NM_032043.3(BRIP1):c.3585G>A (p.Leu1195=) rs2061301182
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032444.4(SLX4):c.1227G>A (p.Lys409=) rs534443134
NM_032444.4(SLX4):c.1683+9C>T rs1242929879
NM_032444.4(SLX4):c.3366G>A (p.Pro1122=) rs752209638
NM_032444.4(SLX4):c.420G>A (p.Glu140=) rs753015235
NM_058216.3(RAD51C):c.404+16C>T rs376465837
NM_058216.3(RAD51C):c.838-20C>G rs766600284
NM_058216.3(RAD51C):c.905-20A>G rs950351911
NM_133433.4(NIPBL):c.4240-7T>C rs587783943
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_170707.4(LMNA):c.1381-6C>G rs371635492
NM_170707.4(LMNA):c.1485G>A (p.Val495=) rs1651703234
NM_170707.4(LMNA):c.1659C>T (p.Asp553=) rs748768783
NM_170707.4(LMNA):c.1968+18dup rs554157057
NM_170707.4(LMNA):c.927C>A (p.Leu309=) rs752558753
NM_182961.4(SYNE1):c.3837+9G>A rs756594812

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