ClinVar Miner

Variants with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
ClinVar version:

Total variants with conflicting interpretations: 17578

HGVS dbSNP
GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1
GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1
GRCh37/hg19 15q26.3(chr15:100614375-100911698)x1
GRCh37/hg19 16p12.3(chr16:19144340-19281768)x1
GRCh37/hg19 16p13.3(chr16:6294808-6394422)x1
GRCh37/hg19 18q22.1(chr18:65687087-66530088)x4
GRCh37/hg19 1q24.2(chr1:168439652-168712431)x1
GRCh37/hg19 2p21(chr2:45408934-45976420)x3
GRCh37/hg19 2q34(chr2:213969855-214925262)x3
GRCh37/hg19 4q32.3(chr4:164801123-165481802)x3
GRCh37/hg19 6q14.2-14.3(chr6:84373742-85044270)x3
GRCh37/hg19 9p24.3(chr9:611150-694567)x1
GRCh37/hg19 Xp11.3(chrX:43396992-43626868)x2
GRCh38/hg38 4q13.2-13.3(chr4:68852530-69850009)x3
GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3
NG_008218.2:g.22870C>T rs3176241
NG_008218.2:g.23094G>A rs758880377
NG_012235.1:g.10361G>A rs377666251
NG_012235.1:g.10975G>C rs185696769
NG_012235.1:g.12377C>G rs200181343
NG_012235.1:g.5548G>A rs149376662
NM_000016.5(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000016.5(ACADM):c.678A>G (p.Ala226=) rs2229249
NM_000016.5(ACADM):c.994C>T (p.Leu332=) rs138098371
NM_000017.3(ACADS):c.*4C>T rs774815274
NM_000017.3(ACADS):c.465C>T (p.Ser155=) rs141492002
NM_000017.3(ACADS):c.624+8C>T rs371550264
NM_000017.3(ACADS):c.796-14G>C rs201420791
NM_000018.3(ACADVL):c.-36A>G rs372592554
NM_000018.3(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000018.3(ACADVL):c.1434+14T>A rs202217537
NM_000018.3(ACADVL):c.1533-4T>A rs369986567
NM_000018.3(ACADVL):c.1581G>A (p.Pro527=) rs149436747
NM_000018.3(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180
NM_000018.3(ACADVL):c.1824C>T (p.Ile608=) rs146115467
NM_000018.3(ACADVL):c.1828-4C>G rs184559206
NM_000018.3(ACADVL):c.1839G>A (p.Arg613=) rs79125791
NM_000018.3(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.3(ACADVL):c.678C>A (p.Ala226=) rs372114185
NM_000018.3(ACADVL):c.818G>C (p.Gly273Ala) rs150149784
NM_000020.2(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000021.3(PSEN1):c.1017A>G (p.Glu339=) rs201776669
NM_000022.2(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.3(ADA):c.162G>A (p.Lys54=) rs45557242
NM_000022.3(ADA):c.239A>G (p.Lys80Arg) rs11555566
NM_000022.3(ADA):c.606+10G>A rs201045221
NM_000022.3(ADA):c.834T>C (p.His278=) rs116962828
NM_000023.2(SGCA):c.270C>T (p.Tyr90=) rs749205073
NM_000023.3(SGCA):c.-31T>C rs199527818
NM_000023.3(SGCA):c.158-11G>A rs140261054
NM_000023.3(SGCA):c.189C>T (p.His63=) rs373770886
NM_000023.3(SGCA):c.313-10C>T rs569744194
NM_000023.3(SGCA):c.366G>A (p.Leu122=) rs147739328
NM_000023.3(SGCA):c.421C>A (p.Arg141Ser) rs35130237
NM_000023.3(SGCA):c.62C>T (p.Thr21Ile) rs199804735
NM_000023.3(SGCA):c.662G>A (p.Arg221His) rs138254713
NM_000023.3(SGCA):c.680C>G (p.Pro227Arg) rs201131924
NM_000023.3(SGCA):c.690G>C (p.Leu230=) rs139454982
NM_000023.3(SGCA):c.861G>A (p.Leu287=) rs1555569293
NM_000026.2(ADSL):c.616G>T (p.Ala206Ser) rs148411623
NM_000026.3(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.3(ADSL):c.270T>C (p.Ala90=) rs143275316
NM_000026.3(ADSL):c.403-4G>A rs373652667
NM_000026.3(ADSL):c.702-7T>C rs201509960
NM_000026.3(ADSL):c.735A>T (p.Arg245=) rs143977255
NM_000026.3(ADSL):c.895A>G (p.Met299Val) rs34396910
NM_000027.3(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000030.2(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.2(AGXT):c.165+19_165+92dup74 rs180177174
NM_000030.2(AGXT):c.166-14C>T rs180177176
NM_000030.2(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.2(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.2(AGXT):c.358+13C>T rs34995778
NM_000030.2(AGXT):c.489G>A (p.Leu163=) rs147601535
NM_000030.2(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.2(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.2(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.2(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.2(AGXT):c.705G>A (p.Thr235=) rs35977912
NM_000030.2(AGXT):c.942+14T>G rs886055843
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000032.4(ALAS2):c.741C>T (p.His247=) rs1057515971
NM_000033.3(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.3(ABCD1):c.50G>A (p.Arg17His)
NM_000033.3(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.3(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000035.4(ALDOB):c.*12C>T rs201867948
NM_000035.4(ALDOB):c.1000-3T>C rs369238799
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.525C>T (p.Ala175=) rs144196914
NM_000035.4(ALDOB):c.681C>T (p.Thr227=) rs61757689
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.799+6G>A rs141888548
NM_000036.2(AMPD1):c.1029G>T (p.Met343Ile) rs61752478
NM_000036.2(AMPD1):c.481-6dupT rs727503806
NM_000038.5(APC):c.-30105C>T rs1057517584
NM_000038.5(APC):c.-30108G>C rs587778028
NM_000038.5(APC):c.-30179T>C rs980704771
NM_000038.5(APC):c.-30211G>A rs1043505718
NM_000038.5(APC):c.-30352G>T rs948080320
NM_000038.5(APC):c.1005A>G (p.Leu335=) rs3797704
NM_000038.5(APC):c.1139G>A (p.Arg380Gln) rs587782886
NM_000038.5(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.5(APC):c.1276G>T (p.Ala426Ser) rs200598389
NM_000038.5(APC):c.135+8G>C rs1554067166
NM_000038.5(APC):c.1392T>C (p.His464=) rs1057524073
NM_000038.5(APC):c.1405C>T (p.Leu469=) rs746293695
NM_000038.5(APC):c.1408+5G>A rs779919032
NM_000038.5(APC):c.1604C>T (p.Ser535Phe) rs75870842
NM_000038.5(APC):c.1631T>C (p.Ile544Thr) rs144056494
NM_000038.5(APC):c.1722A>G (p.Glu574=) rs786201277
NM_000038.5(APC):c.1743+6T>C rs766973462
NM_000038.5(APC):c.181G>A (p.Ala61Thr) rs786201989
NM_000038.5(APC):c.1825G>A (p.Val609Ile) rs147863331
NM_000038.5(APC):c.1958+1_1958+4dupGTAT rs1060503356
NM_000038.5(APC):c.1958+5A>G rs762899641
NM_000038.5(APC):c.1958+6T>C rs368421386
NM_000038.5(APC):c.1962A>G (p.Gln654=) rs1057523515
NM_000038.5(APC):c.2031C>T (p.Val677=) rs769363082
NM_000038.5(APC):c.2094A>G (p.Leu698=) rs1426881729
NM_000038.5(APC):c.2196T>C (p.Asn732=) rs781693283
NM_000038.5(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.5(APC):c.221-5T>C rs1057524155
NM_000038.5(APC):c.2222A>G (p.Asn741Ser) rs150209825
NM_000038.5(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000038.5(APC):c.2250A>T (p.Pro750=) rs376526724
NM_000038.5(APC):c.2346G>A (p.Lys782=) rs1554084084
NM_000038.5(APC):c.2438A>G (p.Asn813Ser) rs201522866
NM_000038.5(APC):c.2444A>C (p.Asn815Thr) rs762990578
NM_000038.5(APC):c.2476T>G (p.Leu826Val) rs145245264
NM_000038.5(APC):c.2527A>G (p.Ser843Gly) rs536223189
NM_000038.5(APC):c.2593C>T (p.Pro865Ser) rs192620988
NM_000038.5(APC):c.2658G>T (p.Gln886His) rs587780593
NM_000038.5(APC):c.2775C>T (p.Ser925=) rs864622701
NM_000038.5(APC):c.277C>G (p.Leu93Val) rs201567345
NM_000038.5(APC):c.2847G>T (p.Met949Ile) rs147394539
NM_000038.5(APC):c.2860T>C (p.Leu954=) rs863224278
NM_000038.5(APC):c.2948T>C (p.Ile983Thr) rs113674464
NM_000038.5(APC):c.2952A>G (p.Glu984=) rs772562489
NM_000038.5(APC):c.2958T>C (p.Tyr986=) rs746581330
NM_000038.5(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.5(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.5(APC):c.317G>A (p.Arg106His) rs201764637
NM_000038.5(APC):c.323G>A (p.Gly108Glu) rs1114167456
NM_000038.5(APC):c.3245C>G (p.Thr1082Ser) rs730881244
NM_000038.5(APC):c.3249T>G (p.Asp1083Glu) rs201629780
NM_000038.5(APC):c.3323A>G (p.Asn1108Ser) rs151286353
NM_000038.5(APC):c.3342A>G (p.Arg1114=) rs786201145
NM_000038.5(APC):c.3352A>G (p.Asn1118Asp) rs140493115
NM_000038.5(APC):c.3374T>C (p.Val1125Ala) rs377278397
NM_000038.5(APC):c.3378C>G (p.Ser1126Arg) rs149353082
NM_000038.5(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.5(APC):c.3393A>G (p.Gln1131=) rs545574962
NM_000038.5(APC):c.3468_3470delAGA (p.Glu1157del) rs386833391
NM_000038.5(APC):c.3479C>A (p.Thr1160Lys) rs201004111
NM_000038.5(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.5(APC):c.3512G>A (p.Arg1171His) rs372481703
NM_000038.5(APC):c.3612A>G (p.Gln1204=) rs864622196
NM_000038.5(APC):c.3625G>A (p.Glu1209Lys) rs201185479
NM_000038.5(APC):c.3632T>G (p.Met1211Arg) rs575268622
NM_000038.5(APC):c.3650A>C (p.Asn1217Thr) rs138933660
NM_000038.5(APC):c.3691C>G (p.Leu1231Val) rs573020080
NM_000038.5(APC):c.3750A>G (p.Lys1250=) rs142728143
NM_000038.5(APC):c.3837T>G (p.Ser1279=) rs1057522493
NM_000038.5(APC):c.384A>G (p.Arg128=) rs876659284
NM_000038.5(APC):c.385G>C (p.Glu129Gln) rs376628500
NM_000038.5(APC):c.388A>G (p.Ser130Gly) rs150973053
NM_000038.5(APC):c.3909A>G (p.Gln1303=) rs746289994
NM_000038.5(APC):c.3910A>G (p.Ile1304Val) rs770157475
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.5(APC):c.4212C>T (p.Ser1404=) rs144655979
NM_000038.5(APC):c.4237A>G (p.Met1413Val) rs141519952
NM_000038.5(APC):c.4311A>G (p.Lys1437=) rs371784771
NM_000038.5(APC):c.4332A>G (p.Gln1444=) rs748342378
NM_000038.5(APC):c.4333A>G (p.Thr1445Ala) rs587780597
NM_000038.5(APC):c.4336G>A (p.Ala1446Thr) rs146572883
NM_000038.5(APC):c.4349G>A (p.Arg1450Gln) rs587782678
NM_000038.5(APC):c.4360A>G (p.Lys1454Glu) rs111866410
NM_000038.5(APC):c.4376C>G (p.Thr1459Ser) rs756048549
NM_000038.5(APC):c.4413A>G (p.Ala1471=) rs964029262
NM_000038.5(APC):c.4416A>T (p.Val1472=) rs773352404
NM_000038.5(APC):c.4420G>A (p.Ala1474Thr) rs139387758
NM_000038.5(APC):c.4533C>T (p.Leu1511=) rs150089434
NM_000038.5(APC):c.4669A>G (p.Ile1557Val) rs763578917
NM_000038.5(APC):c.4711_4713delGAT (p.Asp1571del) rs587782888
NM_000038.5(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.5(APC):c.4765C>T (p.Arg1589Cys) rs72541813
NM_000038.5(APC):c.4833G>A (p.Gln1611=) rs762030106
NM_000038.5(APC):c.4902G>A (p.Pro1634=) rs876659202
NM_000038.5(APC):c.4913T>C (p.Met1638Thr) rs201797422
NM_000038.5(APC):c.4919G>A (p.Arg1640Gln) rs529480958
NM_000038.5(APC):c.5001T>A (p.Asn1667Lys) rs1131691138
NM_000038.5(APC):c.5009C>T (p.Ala1670Val) rs202228932
NM_000038.5(APC):c.5026A>G (p.Arg1676Gly) rs370560998
NM_000038.5(APC):c.5027G>C (p.Arg1676Thr) rs143674116
NM_000038.5(APC):c.5140G>A (p.Asp1714Asn) rs148275069
NM_000038.5(APC):c.5147A>G (p.Asn1716Ser) rs141298709
NM_000038.5(APC):c.5181C>T (p.Cys1727=) rs1554086499
NM_000038.5(APC):c.5264C>T (p.Ala1755Val) rs771967537
NM_000038.5(APC):c.5304G>A (p.Lys1768=) rs863224285
NM_000038.5(APC):c.532-14_532-12delATT rs765893314
NM_000038.5(APC):c.532-9delT rs777844116
NM_000038.5(APC):c.5337A>G (p.Ile1779Met) rs748063409
NM_000038.5(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.5(APC):c.537C>A (p.Ser179=) rs149736402
NM_000038.5(APC):c.5424_5426delCAA (p.Asn1808del) rs587782002
NM_000038.5(APC):c.5430T>G (p.Asp1810Glu) rs149828124
NM_000038.5(APC):c.5506G>A (p.Gly1836Arg) rs766739164
NM_000038.5(APC):c.5571A>C (p.Ser1857=) rs376624613
NM_000038.5(APC):c.5635G>T (p.Ala1879Ser) rs587779799
NM_000038.5(APC):c.564A>G (p.Gln188=) rs377493489
NM_000038.5(APC):c.565T>C (p.Leu189=) rs762146761
NM_000038.5(APC):c.5690A>C (p.His1897Pro) rs112610898
NM_000038.5(APC):c.5708A>G (p.Asn1903Ser) rs750404000
NM_000038.5(APC):c.5737A>G (p.Ile1913Val) rs1554086935
NM_000038.5(APC):c.5752A>G (p.Ile1918Val) rs776966222
NM_000038.5(APC):c.5784G>A (p.Gln1928=) rs761186363
NM_000038.5(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.5(APC):c.5912C>G (p.Ser1971Cys) rs754691867
NM_000038.5(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.5(APC):c.6363_6365dupTGC (p.Ala2122_Cys2123insAla) rs587780602
NM_000038.5(APC):c.6381A>G (p.Gln2127=) rs765256868
NM_000038.5(APC):c.646-8T>A rs879254149
NM_000038.5(APC):c.647G>A (p.Arg216Gln) rs76685252
NM_000038.5(APC):c.6492C>T (p.Gly2164=) rs765332758
NM_000038.5(APC):c.6525A>G (p.Thr2175=) rs200151646
NM_000038.5(APC):c.6554G>A (p.Ser2185Asn) rs764255983
NM_000038.5(APC):c.6609T>C (p.Val2203=) rs149328018
NM_000038.5(APC):c.6624A>G (p.Glu2208=) rs886059798
NM_000038.5(APC):c.6639G>A (p.Met2213Ile) rs35540155
NM_000038.5(APC):c.6675T>C (p.Ser2225=) rs950337714
NM_000038.5(APC):c.6679G>T (p.Gly2227Cys) rs367905430
NM_000038.5(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.5(APC):c.6750C>T (p.Gly2250=) rs555799753
NM_000038.5(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.5(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000038.5(APC):c.6873A>T (p.Gln2291His) rs148878262
NM_000038.5(APC):c.6887G>A (p.Ser2296Asn) rs919611781
NM_000038.5(APC):c.6907G>A (p.Gly2303Arg) rs544549596
NM_000038.5(APC):c.6965A>G (p.Gln2322Arg) rs1057517549
NM_000038.5(APC):c.7032A>G (p.Gln2344=) rs753728632
NM_000038.5(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.5(APC):c.7109G>T (p.Gly2370Val) rs140079759
NM_000038.5(APC):c.7182T>C (p.Ser2394=) rs777420141
NM_000038.5(APC):c.7209G>A (p.Gln2403=) rs769603145
NM_000038.5(APC):c.721G>A (p.Glu241Lys) rs777603154
NM_000038.5(APC):c.7399C>A (p.Pro2467Thr) rs372305287
NM_000038.5(APC):c.7415C>T (p.Ala2472Val) rs200399245
NM_000038.5(APC):c.7490C>T (p.Ser2497Leu) rs141010008
NM_000038.5(APC):c.7533C>T (p.Leu2511=) rs1057522957
NM_000038.5(APC):c.7543A>G (p.Ile2515Val) rs554356011
NM_000038.5(APC):c.7574G>A (p.Arg2525His) rs762034315
NM_000038.5(APC):c.75A>G (p.Gln25=) rs876659361
NM_000038.5(APC):c.7621A>G (p.Ile2541Val) rs587778033
NM_000038.5(APC):c.7625A>G (p.Asn2542Ser) rs151163793
NM_000038.5(APC):c.7632A>G (p.Ser2544=) rs749324187
NM_000038.5(APC):c.7645C>T (p.Arg2549Cys) rs199539353
NM_000038.5(APC):c.7696A>C (p.Arg2566=) rs1060504883
NM_000038.5(APC):c.7717A>G (p.Ile2573Val) rs145444830
NM_000038.5(APC):c.7778A>G (p.Asn2593Ser) rs367676584
NM_000038.5(APC):c.7786T>G (p.Ser2596Ala) rs138137162
NM_000038.5(APC):c.7833A>G (p.Thr2611=) rs1057520909
NM_000038.5(APC):c.7858T>A (p.Phe2620Ile) rs587781816
NM_000038.5(APC):c.7878T>G (p.Thr2626=) rs757020188
NM_000038.5(APC):c.7888G>A (p.Val2630Ile) rs199688874
NM_000038.5(APC):c.7903A>G (p.Thr2635Ala) rs886059799
NM_000038.5(APC):c.7977G>A (p.Val2659=) rs1392424178
NM_000038.5(APC):c.7986G>A (p.Glu2662=) rs571645304
NM_000038.5(APC):c.8008A>C (p.Arg2670=) rs756875223
NM_000038.5(APC):c.8010A>G (p.Arg2670=) rs786201524
NM_000038.5(APC):c.8042C>T (p.Pro2681Leu) rs182456139
NM_000038.5(APC):c.8043G>A (p.Pro2681=) rs149347068
NM_000038.5(APC):c.8100T>C (p.Asn2700=) rs761326128
NM_000038.5(APC):c.8141G>A (p.Arg2714His) rs747362422
NM_000038.5(APC):c.8146G>A (p.Val2716Met) rs587778044
NM_000038.5(APC):c.8199A>G (p.Gln2733=) rs372365378
NM_000038.5(APC):c.8213T>C (p.Ile2738Thr) rs863224552
NM_000038.5(APC):c.8261G>A (p.Ser2754Asn) rs369721828
NM_000038.5(APC):c.8266A>G (p.Ile2756Val) rs146115809
NM_000038.5(APC):c.8332G>T (p.Ala2778Ser) rs587778046
NM_000038.5(APC):c.835-3T>C rs372090940
NM_000038.5(APC):c.8383G>A (p.Ala2795Thr) rs369264968
NM_000038.5(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.5(APC):c.841A>G (p.Thr281Ala) rs769727966
NM_000038.5(APC):c.8429A>G (p.Asn2810Ser) rs758044862
NM_000038.5(APC):c.848G>A (p.Arg283Gln) rs149154604
NM_000038.5(APC):c.933+5C>A rs573528468
NM_000038.5(APC):c.95A>G (p.Asn32Ser) rs539108537
NM_000043.5(FAS):c.183G>A (p.Lys61=) rs3218613
NM_000043.5(FAS):c.578A>G (p.Lys193Arg) rs150489856
NM_000043.5(FAS):c.580G>A (p.Glu194Lys) rs56006128
NM_000045.3(ARG1):c.75A>G (p.Glu25=) rs755973004
NM_000046.3(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.3(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000046.4(ARSB):c.113_121delGCGCCGGGG (p.Gly38_Gly40del) rs550086186
NM_000048.3(ASL):c.-31G>A rs766867890
NM_000048.3(ASL):c.-44+9G>A rs558890925
NM_000048.3(ASL):c.1026G>C (p.Val342=) rs768461888
NM_000048.3(ASL):c.656-5C>A rs201814807
NM_000050.4(ASS1):c.106-10T>G rs73541957
NM_000050.4(ASS1):c.1134C>T (p.Asn378=) rs140715869
NM_000050.4(ASS1):c.175-16G>T rs373936572
NM_000050.4(ASS1):c.765C>T (p.Asn255=) rs375579096
NM_000051.3(ATM):c.-14T>C
NM_000051.3(ATM):c.1010G>A (p.Arg337His) rs202160435
NM_000051.3(ATM):c.1021G>A (p.Val341Ile) rs200601781
NM_000051.3(ATM):c.103C>A (p.Arg35=) rs55861249
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1073A>G (p.Asn358Ser) rs149636614
NM_000051.3(ATM):c.1082C>A (p.Thr361Asn)
NM_000051.3(ATM):c.1132A>G (p.Ser378Gly) rs587779811
NM_000051.3(ATM):c.1138T>A (p.Tyr380Asn) rs34083085
NM_000051.3(ATM):c.1160A>G (p.Lys387Arg) rs876659755
NM_000051.3(ATM):c.1227T>C (p.Leu409=) rs1060504273
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1235+5A>T rs1064793679
NM_000051.3(ATM):c.125A>G (p.His42Arg) rs201773026
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.1332C>A (p.Pro444=) rs763361384
NM_000051.3(ATM):c.1335A>G (p.Gln445=) rs1385656085
NM_000051.3(ATM):c.1359A>G (p.Pro453=) rs786203693
NM_000051.3(ATM):c.1368A>G (p.Leu456=) rs750579940
NM_000051.3(ATM):c.138T>C (p.His46=) rs770834907
NM_000051.3(ATM):c.1464G>T (p.Trp488Cys) rs377597949
NM_000051.3(ATM):c.1511A>G (p.Asn504Ser) rs56365018
NM_000051.3(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.3(ATM):c.1608-3T>C rs774196176
NM_000051.3(ATM):c.1614A>G (p.Ala538=) rs876659636
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1648A>G (p.Ile550Val) rs202144949
NM_000051.3(ATM):c.1689G>A (p.Met563Ile) rs786202469
NM_000051.3(ATM):c.1695A>G (p.Glu565=) rs780932013
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1773T>C (p.Asn591=) rs61734356
NM_000051.3(ATM):c.1800C>T (p.His600=) rs750715942
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.1855A>C (p.Asn619His) rs140882609
NM_000051.3(ATM):c.186A>G (p.Arg62=) rs876658224
NM_000051.3(ATM):c.1884A>G (p.Gln628=) rs1555072578
NM_000051.3(ATM):c.1887C>T (p.Ser629=) rs143097772
NM_000051.3(ATM):c.1888G>A (p.Val630Met) rs148191382
NM_000051.3(ATM):c.1902A>G (p.Glu634=) rs1060501633
NM_000051.3(ATM):c.1905C>T (p.His635=) rs1020808836
NM_000051.3(ATM):c.1953A>G (p.Leu651=) rs730881283
NM_000051.3(ATM):c.1960C>A (p.Gln654Lys) rs528165789
NM_000051.3(ATM):c.2021A>G (p.His674Arg) rs201762714
NM_000051.3(ATM):c.202A>G (p.Ile68Val) rs35389822
NM_000051.3(ATM):c.2043T>A (p.Ser681=) rs746422877
NM_000051.3(ATM):c.2074C>T (p.Arg692Cys) rs765965513
NM_000051.3(ATM):c.2085G>A (p.Leu695=) rs786202229
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2124+6A>T rs550998406
NM_000051.3(ATM):c.2127T>C (p.Ile709=) rs56252953
NM_000051.3(ATM):c.2127T>G (p.Ile709Met) rs56252953
NM_000051.3(ATM):c.2181C>T (p.Gly727=) rs876658836
NM_000051.3(ATM):c.2222A>G (p.Tyr741Cys) rs878853492
NM_000051.3(ATM):c.2238C>T (p.Phe746=) rs786203595
NM_000051.3(ATM):c.2251-7A>G rs879254103
NM_000051.3(ATM):c.2262A>G (p.Gln754=) rs778320952
NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.3(ATM):c.2346A>G (p.Leu782=) rs730881285
NM_000051.3(ATM):c.2355T>C (p.Arg785=) rs1555075801
NM_000051.3(ATM):c.2377-15_2377-12delTTGT rs730881298
NM_000051.3(ATM):c.2377-5T>C rs754206007
NM_000051.3(ATM):c.2377-6T>A rs876660963
NM_000051.3(ATM):c.2396C>T (p.Ala799Val) rs199954262
NM_000051.3(ATM):c.2446_2447delGCinsCT (p.Ala816Leu) rs587781956
NM_000051.3(ATM):c.2466+8T>A rs765619483
NM_000051.3(ATM):c.2466A>G (p.Leu822=) rs747108452
NM_000051.3(ATM):c.2467-7C>T rs768850329
NM_000051.3(ATM):c.2476A>C (p.Ile826Leu) rs587782397
NM_000051.3(ATM):c.2494C>T (p.Arg832Cys) rs2229022
NM_000051.3(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.3(ATM):c.2522A>C (p.Asp841Ala) rs587781812
NM_000051.3(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2577C>T (p.Asn859=) rs730881286
NM_000051.3(ATM):c.2598T>G (p.Val866=) rs730881350
NM_000051.3(ATM):c.2606C>G (p.Ala869Gly) rs145513717
NM_000051.3(ATM):c.2610C>T (p.Asn870=) rs587780618
NM_000051.3(ATM):c.2630G>C (p.Ser877Thr) rs370269552
NM_000051.3(ATM):c.2634C>G (p.Thr878=) rs771444818
NM_000051.3(ATM):c.2638+3A>G rs876660552
NM_000051.3(ATM):c.2638+6T>C rs768305533
NM_000051.3(ATM):c.2716T>A (p.Leu906Met) rs368047468
NM_000051.3(ATM):c.2735A>G (p.Gln912Arg) rs730881353
NM_000051.3(ATM):c.2748G>T (p.Val916=) rs1050470790
NM_000051.3(ATM):c.2778A>G (p.Lys926=) rs372569168
NM_000051.3(ATM):c.2804C>T (p.Thr935Met) rs3218708
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2805G>T (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2836A>G (p.Met946Val) rs587781992
NM_000051.3(ATM):c.2838+10G>A rs1555083482
NM_000051.3(ATM):c.2839-4T>C rs1057522619
NM_000051.3(ATM):c.2839-5C>A rs876660205
NM_000051.3(ATM):c.2859G>A (p.Glu953=) rs569489729
NM_000051.3(ATM):c.2887A>G (p.Met963Val) rs374353016
NM_000051.3(ATM):c.2913A>G (p.Lys971=) rs1057522291
NM_000051.3(ATM):c.2919A>G (p.Leu973=) rs587779829
NM_000051.3(ATM):c.2922-8T>A rs545892367
NM_000051.3(ATM):c.2927T>C (p.Val976Ala) rs146145357
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.2937G>T (p.Leu979Phe) rs1166904824
NM_000051.3(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.3(ATM):c.3012C>T (p.Ser1004=) rs751260996
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.3016A>G (p.Met1006Val) rs139893395
NM_000051.3(ATM):c.3077+4G>A rs201222237
NM_000051.3(ATM):c.3126A>G (p.Leu1042=) rs770038542
NM_000051.3(ATM):c.3154-4G>A rs199543313
NM_000051.3(ATM):c.3154-4G>T rs199543313
NM_000051.3(ATM):c.3154-5C>T rs55719759
NM_000051.3(ATM):c.3190A>G (p.Met1064Val) rs79431304
NM_000051.3(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.3(ATM):c.3237T>C (p.Ala1079=) rs564238520
NM_000051.3(ATM):c.3242A>G (p.Asn1081Ser) rs368111672
NM_000051.3(ATM):c.3283A>C (p.Arg1095=) rs876660302
NM_000051.3(ATM):c.3295G>A (p.Asp1099Asn) rs372966951
NM_000051.3(ATM):c.3299C>T (p.Thr1100Met) rs189445371
NM_000051.3(ATM):c.3300G>A (p.Thr1100=) rs587780621
NM_000051.3(ATM):c.3303G>A (p.Lys1101=) rs925487325
NM_000051.3(ATM):c.332-3T>C rs376116157
NM_000051.3(ATM):c.3341A>G (p.Lys1114Arg) rs777705500
NM_000051.3(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.3(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.3(ATM):c.3402+16A>G rs763382531
NM_000051.3(ATM):c.3402+5T>C rs1057520229
NM_000051.3(ATM):c.3403-3A>C rs374866638
NM_000051.3(ATM):c.3417G>A (p.Glu1139=) rs879254069
NM_000051.3(ATM):c.3467C>T (p.Thr1156Met) rs759951393
NM_000051.3(ATM):c.3468G>A (p.Thr1156=) rs148358896
NM_000051.3(ATM):c.3543A>G (p.Lys1181=) rs1555091382
NM_000051.3(ATM):c.3577-13T>C rs587780856
NM_000051.3(ATM):c.3577-6G>A rs56006345
NM_000051.3(ATM):c.3577-7C>T rs558667657
NM_000051.3(ATM):c.3588A>G (p.Lys1196=) rs376524625
NM_000051.3(ATM):c.3613C>T (p.Arg1205Cys) rs760928285
NM_000051.3(ATM):c.3614G>A (p.Arg1205His) rs769106895
NM_000051.3(ATM):c.3689A>G (p.Asn1230Ser) rs587782195
NM_000051.3(ATM):c.3747-10C>G rs775274473
NM_000051.3(ATM):c.3777G>A (p.Leu1259=) rs780192529
NM_000051.3(ATM):c.3806A>G (p.Lys1269Arg) rs146017595
NM_000051.3(ATM):c.3831G>C (p.Glu1277Asp) rs587781787
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.3927A>G (p.Ala1309=) rs1555093665
NM_000051.3(ATM):c.3963G>A (p.Met1321Ile) rs35184530
NM_000051.3(ATM):c.3964C>A (p.Leu1322Ile) rs144535256
NM_000051.3(ATM):c.3994-11_3994-4delTGCCCTTG rs1060501665
NM_000051.3(ATM):c.3994-9C>T rs767111803
NM_000051.3(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.3(ATM):c.4066A>G (p.Asn1356Asp) rs147600485
NM_000051.3(ATM):c.4109+4T>C rs754706599
NM_000051.3(ATM):c.4109+6T>C rs368606937
NM_000051.3(ATM):c.4110-4T>C rs777186156
NM_000051.3(ATM):c.411C>T (p.Tyr137=) rs756160533
NM_000051.3(ATM):c.4167A>G (p.Thr1389=) rs183214437
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4279G>A (p.Ala1427Thr) rs2229021
NM_000051.3(ATM):c.4299T>C (p.Tyr1433=) rs886047612
NM_000051.3(ATM):c.42A>G (p.Gln14=) rs771378101
NM_000051.3(ATM):c.4332G>A (p.Leu1444=) rs753570046
NM_000051.3(ATM):c.4365T>A (p.Ser1455Arg) rs527471560
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.3(ATM):c.4404T>C (p.Val1468=) rs1555097801
NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.3(ATM):c.4437-5A>G rs876658290
NM_000051.3(ATM):c.4437-7A>G rs370354306
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4492T>C (p.Leu1498=) rs748949478
NM_000051.3(ATM):c.4545C>T (p.Asn1515=) rs764039368
NM_000051.3(ATM):c.4606A>G (p.Lys1536Glu) rs587779841
NM_000051.3(ATM):c.4611+9C>G rs760704159
NM_000051.3(ATM):c.4612-4T>G rs569983068
NM_000051.3(ATM):c.4629A>G (p.Lys1543=) rs745565564
NM_000051.3(ATM):c.4665C>T (p.Leu1555=) rs374431061
NM_000051.3(ATM):c.4674G>A (p.Thr1558=) rs876658474
NM_000051.3(ATM):c.4703A>G (p.His1568Arg) rs368830730
NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.4802G>A (p.Ser1601Asn) rs587782506
NM_000051.3(ATM):c.482A>C (p.Gln161Pro) rs587780625
NM_000051.3(ATM):c.4853G>A (p.Arg1618Gln) rs765759912
NM_000051.3(ATM):c.48A>G (p.Glu16=) rs774768437
NM_000051.3(ATM):c.4909+3G>A rs778685122
NM_000051.3(ATM):c.4910-4C>T rs786202493
NM_000051.3(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.3(ATM):c.496+4T>C rs587781375
NM_000051.3(ATM):c.496+4T>G rs587781375
NM_000051.3(ATM):c.497-4T>A rs876659621
NM_000051.3(ATM):c.5005+7_5005+8delTA rs587780626
NM_000051.3(ATM):c.5006-8A>G rs1057520447
NM_000051.3(ATM):c.5089A>G (p.Thr1697Ala) rs142455912
NM_000051.3(ATM):c.5178-4dup rs747750958
NM_000051.3(ATM):c.5185G>C (p.Val1729Leu) rs3092907
NM_000051.3(ATM):c.5190A>G (p.Arg1730=) rs786201609
NM_000051.3(ATM):c.5319+6_5319+7delTT rs777478613
NM_000051.3(ATM):c.5319+7T>A rs925428128
NM_000051.3(ATM):c.5320-10T>C rs864622731
NM_000051.3(ATM):c.5352C>T (p.Asn1784=) rs140641762
NM_000051.3(ATM):c.5375T>C (p.Ile1792Thr) rs776309355
NM_000051.3(ATM):c.5456C>T (p.Thr1819Ile) rs760060843
NM_000051.3(ATM):c.5475A>G (p.Gln1825=) rs1555106560
NM_000051.3(ATM):c.5488A>G (p.Met1830Val) rs587781622
NM_000051.3(ATM):c.5524C>T (p.Leu1842Phe) rs956546711
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5595T>C (p.His1865=) rs772261410
NM_000051.3(ATM):c.5618G>A (p.Cys1873Tyr) rs587782239
NM_000051.3(ATM):c.5630T>C (p.Phe1877Ser) rs202028401
NM_000051.3(ATM):c.5637A>G (p.Gln1879=) rs587781993
NM_000051.3(ATM):c.5674+6C>G rs780204400
NM_000051.3(ATM):c.5675-4T>A rs56075338
NM_000051.3(ATM):c.5762+6G>A rs776532221
NM_000051.3(ATM):c.5763A>G (p.Arg1921=) rs1057523784
NM_000051.3(ATM):c.5890A>G (p.Lys1964Glu) rs201963507
NM_000051.3(ATM):c.5961T>G (p.Ser1987=) rs1060504265
NM_000051.3(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.3(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.3(ATM):c.6095+8G>T rs547072690
NM_000051.3(ATM):c.6100C>A (p.Arg2034=) rs532480170
NM_000051.3(ATM):c.6144A>G (p.Thr2048=) rs1201081443
NM_000051.3(ATM):c.6176C>T (p.Thr2059Ile) rs144761622
NM_000051.3(ATM):c.6179G>A (p.Arg2060His) rs376521407
NM_000051.3(ATM):c.6198+5A>G rs771047560
NM_000051.3(ATM):c.6234C>T (p.Ser2078=) rs569483748
NM_000051.3(ATM):c.6246A>G (p.Lys2082=) rs745977589
NM_000051.3(ATM):c.6330C>T (p.Asp2110=) rs759029705
NM_000051.3(ATM):c.6333T>C (p.His2111=) rs55756349
NM_000051.3(ATM):c.6338C>G (p.Thr2113Ser) rs573290117
NM_000051.3(ATM):c.6347+4A>G rs1342227995
NM_000051.3(ATM):c.6382T>C (p.Leu2128=) rs753646931
NM_000051.3(ATM):c.6396A>G (p.Leu2132=) rs370537345
NM_000051.3(ATM):c.6399A>G (p.Gln2133=) rs750614487
NM_000051.3(ATM):c.6443A>G (p.Lys2148Arg) rs730881382
NM_000051.3(ATM):c.6447T>C (p.Tyr2149=) rs1057519167
NM_000051.3(ATM):c.6452+5T>A rs533830556
NM_000051.3(ATM):c.6465G>A (p.Val2155=) rs140423883
NM_000051.3(ATM):c.6486C>T (p.Ser2162=) rs138166710
NM_000051.3(ATM):c.6543G>T (p.Glu2181Asp) rs138828590
NM_000051.3(ATM):c.6552C>T (p.Ser2184=) rs565124064
NM_000051.3(ATM):c.6572+4T>C rs587780636
NM_000051.3(ATM):c.660G>A (p.Ala220=) rs763669136
NM_000051.3(ATM):c.6700C>T (p.Leu2234=) rs760602228
NM_000051.3(ATM):c.6795C>T (p.Phe2265=) rs3218699
NM_000051.3(ATM):c.6820G>A (p.Ala2274Thr) rs567060474
NM_000051.3(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.3(ATM):c.6888A>T (p.Ala2296=) rs200735689
NM_000051.3(ATM):c.6891A>G (p.Gln2297=) rs773545588
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.6966C>T (p.Ser2322=) rs864622593
NM_000051.3(ATM):c.6988C>G (p.Leu2330Val) rs148432863
NM_000051.3(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.3(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.3(ATM):c.69A>G (p.Arg23=) rs876659304
NM_000051.3(ATM):c.702A>G (p.Ala234=) rs752751588
NM_000051.3(ATM):c.7038A>G (p.Ala2346=) rs146167034
NM_000051.3(ATM):c.7187C>G (p.Thr2396Ser) rs370559102
NM_000051.3(ATM):c.7294A>T (p.Ile2432Phe) rs587781838
NM_000051.3(ATM):c.7308-10T>C rs745319720
NM_000051.3(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.3(ATM):c.7358G>A (p.Arg2453His) rs587781361
NM_000051.3(ATM):c.7383C>T (p.Arg2461=) rs1429991894
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000051.3(ATM):c.7425A>G (p.Leu2475=) rs1555123162
NM_000051.3(ATM):c.7450G>A (p.Val2484Ile) rs587779864
NM_000051.3(ATM):c.7494T>C (p.Ser2498=) rs34393781
NM_000051.3(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.3(ATM):c.7516-9delT rs573494809
NM_000051.3(ATM):c.7618G>A (p.Val2540Ile) rs35203200
NM_000051.3(ATM):c.7629+12_7629+15delTGAA rs1555124156
NM_000051.3(ATM):c.7630-3C>T rs587782448
NM_000051.3(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000051.3(ATM):c.7757A>G (p.Asn2586Ser) rs587778079
NM_000051.3(ATM):c.7788+7G>A rs749610251
NM_000051.3(ATM):c.7919C>T (p.Thr2640Ile) rs4988125
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000051.3(ATM):c.7983T>C (p.Asp2661=) rs143972422
NM_000051.3(ATM):c.7988T>C (p.Val2663Ala) rs377648506
NM_000051.3(ATM):c.8011-6T>G rs762092284
NM_000051.3(ATM):c.8046T>C (p.Thr2682=) rs876660435
NM_000051.3(ATM):c.8100A>G (p.Lys2700=) rs778601472
NM_000051.3(ATM):c.8152-6C>T rs200389039
NM_000051.3(ATM):c.8217G>A (p.Leu2739=) rs759069006
NM_000051.3(ATM):c.8268+6T>A rs747153940
NM_000051.3(ATM):c.8269-10_8269-9delGT rs587780641
NM_000051.3(ATM):c.8353G>A (p.Asp2785Asn) rs587782417
NM_000051.3(ATM):c.8355T>C (p.Asp2785=) rs372834825
NM_000051.3(ATM):c.8391T>C (p.Ser2797=) rs566485657
NM_000051.3(ATM):c.8419-16_8419-13delTATT rs774275044
NM_000051.3(ATM):c.8518T>C (p.Leu2840=) rs794727769
NM_000051.3(ATM):c.8530A>G (p.Ile2844Val) rs756230327
NM_000051.3(ATM):c.8532T>C (p.Ile2844=) rs730881278
NM_000051.3(ATM):c.8562C>T (p.Arg2854=) rs878853550
NM_000051.3(ATM):c.8584+6C>G rs863224300
NM_000051.3(ATM):c.858A>G (p.Gln286=) rs145301478
NM_000051.3(ATM):c.8671+9T>G rs200190537
NM_000051.3(ATM):c.8763G>A (p.Thr2921=) rs781528244
NM_000051.3(ATM):c.8850+5A>C rs1057522186
NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) rs139379666
NM_000051.3(ATM):c.8922G>A (p.Pro2974=) rs527248759
NM_000051.3(ATM):c.8987+10A>G rs1060504308
NM_000051.3(ATM):c.8987+3G>A rs56360226
NM_000051.3(ATM):c.8993T>C (p.Ile2998Thr) rs778670498
NM_000051.3(ATM):c.9049C>T (p.Leu3017=) rs876658991
NM_000051.3(ATM):c.9166G>T (p.Val3056Leu) rs371767164
NM_000051.3(ATM):c.94C>T (p.Arg32Cys) rs148061139
NM_000052.6(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963
NM_000052.6(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.6(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.6(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019
NM_000052.6(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.6(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.6(ATP7A):c.922A>G (p.Ile308Val) rs782351352
NM_000053.3(ATP7B):c.*15C>T rs73498144
NM_000053.3(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000053.3(ATP7B):c.1122C>G (p.Val374=) rs201254466
NM_000053.3(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.3(ATP7B):c.1543+13C>T rs200171850
NM_000053.3(ATP7B):c.1543+14G>A rs770362811
NM_000053.3(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.3(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.3(ATP7B):c.1839C>T (p.Ile613=) rs370476756
NM_000053.3(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074
NM_000053.3(ATP7B):c.1947-4C>T rs74904335
NM_000053.3(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.3(ATP7B):c.2448-11G>A rs200450017
NM_000053.3(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.3(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.3(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.3(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.3(ATP7B):c.3105C>T (p.Gly1035=) rs200324179
NM_000053.3(ATP7B):c.3324C>T (p.Asn1108=) rs372456815
NM_000053.3(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.3(ATP7B):c.3396C>T (p.Ser1132=) rs370947152
NM_000053.3(ATP7B):c.3405A>G (p.Ala1135=) rs373081328
NM_000053.3(ATP7B):c.3557-6C>T rs140708492
NM_000053.3(ATP7B):c.3885C>T (p.Ala1295=) rs200597654
NM_000053.3(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.3(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.3(ATP7B):c.4022-19C>T rs369736734
NM_000053.3(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.3(ATP7B):c.628A>G (p.Ile210Val) rs61733680
NM_000057.3(BLM):c.1086C>T (p.Asp362=) rs375632163
NM_000057.3(BLM):c.114A>G (p.Lys38=) rs770017301
NM_000057.3(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.3(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.3(BLM):c.1519G>A (p.Glu507Lys) rs192491153
NM_000057.3(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.3(BLM):c.1881T>C (p.Thr627=) rs148678729
NM_000057.3(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.3(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.3(BLM):c.204C>A (p.Thr68=) rs199927688
NM_000057.3(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.3(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.3(BLM):c.2293G>A (p.Val765Ile) rs191789336
NM_000057.3(BLM):c.2362C>A (p.Leu788Ile) rs149754073
NM_000057.3(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.3(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.3(BLM):c.261G>A (p.Lys87=) rs372668612
NM_000057.3(BLM):c.2739C>T (p.Leu913=) rs759223856
NM_000057.3(BLM):c.2838A>G (p.Thr946=) rs200850440
NM_000057.3(BLM):c.2919C>T (p.Tyr973=) rs181161119
NM_000057.3(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.3(BLM):c.3117A>G (p.Ile1039Met) rs576199850
NM_000057.3(BLM):c.3397A>G (p.Lys1133Glu) rs145027663
NM_000057.3(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.3(BLM):c.3751+10C>T rs199685140
NM_000057.3(BLM):c.3751+9A>C rs774368488
NM_000057.3(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.3(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.3(BLM):c.3879A>G (p.Glu1293=) rs28377085
NM_000057.3(BLM):c.3892G>A (p.Gly1298Arg) rs587779889
NM_000057.3(BLM):c.3960C>T (p.Pro1320=) rs56009845
NM_000057.3(BLM):c.4076+4T>G rs183176301
NM_000057.3(BLM):c.4077-10C>T rs145310008
NM_000057.3(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000057.3(BLM):c.43C>T (p.Arg15Cys) rs148545569
NM_000057.3(BLM):c.780T>C (p.Thr260=) rs55763079
NM_000057.3(BLM):c.807C>T (p.Ser269=) rs147850738
NM_000059.3(BRCA2):c.*14C>T rs373436334
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-14T>C rs276174796
NM_000059.3(BRCA2):c.-15A>C rs138705202
NM_000059.3(BRCA2):c.-39-12_-39-10delTCT rs276174798
NM_000059.3(BRCA2):c.-39-16G>A rs276174799
NM_000059.3(BRCA2):c.-39-5delT rs276174800
NM_000059.3(BRCA2):c.-3A>G rs431825277
NM_000059.3(BRCA2):c.-41G>A rs879255312
NM_000059.3(BRCA2):c.-51C>T rs1057521841
NM_000059.3(BRCA2):c.-9T>C rs276174802
NM_000059.3(BRCA2):c.10024G>A (p.Glu3342Lys) rs28897761
NM_000059.3(BRCA2):c.10024G>T (p.Glu3342Ter) rs28897761
NM_000059.3(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387
NM_000059.3(BRCA2):c.10069A>G (p.Thr3357Ala) rs786203411
NM_000059.3(BRCA2):c.10070C>T (p.Thr3357Ile) rs80358388
NM_000059.3(BRCA2):c.10076A>G (p.Glu3359Gly) rs80358389
NM_000059.3(BRCA2):c.10082A>C (p.Gln3361Pro) rs751250810
NM_000059.3(BRCA2):c.10087A>G (p.Ile3363Val) rs55881945
NM_000059.3(BRCA2):c.10089A>G (p.Ile3363Met) rs80358390
NM_000059.3(BRCA2):c.10095_10096insT (p.Ser3366Terfs) rs730881599
NM_000059.3(BRCA2):c.10095delCinsGAATTATATCT (p.Ser3366Asnfs) rs276174803
NM_000059.3(BRCA2):c.10102T>C (p.Ser3368Pro) rs786205482
NM_000059.3(BRCA2):c.10105A>G (p.Thr3369Ala) rs80358392
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393
NM_000059.3(BRCA2):c.1011C>T (p.Asn337=) rs41293473
NM_000059.3(BRCA2):c.10120A>G (p.Thr3374Ala) rs80358395
NM_000059.3(BRCA2):c.10121C>T (p.Thr3374Ile) rs56309455
NM_000059.3(BRCA2):c.10124G>A (p.Ser3375Asn) rs1060502452
NM_000059.3(BRCA2):c.10127C>G (p.Ser3376Ter) rs1555290049
NM_000059.3(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568
NM_000059.3(BRCA2):c.10154G>A (p.Arg3385His) rs80358398
NM_000059.3(BRCA2):c.10160C>G (p.Thr3387Ser) rs863224584
NM_000059.3(BRCA2):c.10162A>G (p.Thr3388Ala) rs431825278
NM_000059.3(BRCA2):c.10166C>T (p.Ser3389Phe) rs431825279
NM_000059.3(BRCA2):c.10171A>G (p.Ile3391Val) rs778147500
NM_000059.3(BRCA2):c.10176A>G (p.Lys3392=) rs876659206
NM_000059.3(BRCA2):c.10176delA (p.Glu3393Asnfs) rs80359258
NM_000059.3(BRCA2):c.10183delG (p.Glu3395Argfs) rs1064795488
NM_000059.3(BRCA2):c.10187G>A (p.Ser3396Asn) rs889208749
NM_000059.3(BRCA2):c.10189T>A (p.Ser3397Thr) rs876660044
NM_000059.3(BRCA2):c.10195G>A (p.Ala3399Thr) rs1057521734
NM_000059.3(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199
NM_000059.3(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327
NM_000059.3(BRCA2):c.10220A>G (p.Asn3407Ser) rs80358401
NM_000059.3(BRCA2):c.10222A>T (p.Lys3408Ter) rs80358402
NM_000059.3(BRCA2):c.1022G>T (p.Cys341Phe) rs80358403
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.10238C>A (p.Thr3413Lys) rs730881584
NM_000059.3(BRCA2):c.10240A>G (p.Thr3414Ala) rs80358405
NM_000059.3(BRCA2):c.10249T>C (p.Tyr3417His) rs535952730
NM_000059.3(BRCA2):c.10250A>G (p.Tyr3417Cys) rs730881600
NM_000059.3(BRCA2):c.10251T>C (p.Tyr3417=) rs80359779
NM_000059.3(BRCA2):c.10253_10256delTCTA (p.Ile3418Lysfs) rs80359259
NM_000059.3(BRCA2):c.1040A>C (p.Gln347Pro) rs55800493
NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493
NM_000059.3(BRCA2):c.1054T>C (p.Tyr352His) rs542343726
NM_000059.3(BRCA2):c.1056C>T (p.Tyr352=) rs786201858
NM_000059.3(BRCA2):c.1059A>G (p.Ser353=) rs730881585
NM_000059.3(BRCA2):c.1074G>T (p.Val358=) rs276174805
NM_000059.3(BRCA2):c.1077A>G (p.Glu359=) rs1135401832
NM_000059.3(BRCA2):c.1096T>G (p.Leu366Val) rs587779357
NM_000059.3(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408
NM_000059.3(BRCA2):c.1124C>T (p.Pro375Leu) rs80358409
NM_000059.3(BRCA2):c.1127T>G (p.Phe376Cys) rs80358410
NM_000059.3(BRCA2):c.1141G>A (p.Asp381Asn) rs398122723
NM_000059.3(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630
NM_000059.3(BRCA2):c.1149C>A (p.Ile383=) rs80359780
NM_000059.3(BRCA2):c.114A>G (p.Glu38=) rs1555280345
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.3(BRCA2):c.1160T>C (p.Val387Ala) rs373945846
NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.3(BRCA2):c.1166C>T (p.Pro389Leu) rs397507263
NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) rs148607710
NM_000059.3(BRCA2):c.1179T>C (p.Cys393=) rs786201237
NM_000059.3(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241
NM_000059.3(BRCA2):c.1188T>G (p.Ser396=) rs80359781
NM_000059.3(BRCA2):c.11G>A (p.Gly4Glu) rs587782137
NM_000059.3(BRCA2):c.1216G>A (p.Ala406Thr) rs751535164
NM_000059.3(BRCA2):c.1225G>A (p.Glu409Lys) rs80358416
NM_000059.3(BRCA2):c.122C>T (p.Pro41Leu) rs786201716
NM_000059.3(BRCA2):c.1232T>C (p.Ile411Thr) rs79597821
NM_000059.3(BRCA2):c.1244A>G (p.His415Arg) rs80358417
NM_000059.3(BRCA2):c.1247T>G (p.Ile416Ser) rs80358418
NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.3(BRCA2):c.1272A>G (p.Ser424=) rs587780531
NM_000059.3(BRCA2):c.1284A>G (p.Leu428=) rs34770647
NM_000059.3(BRCA2):c.1287A>G (p.Leu429=) rs80359782
NM_000059.3(BRCA2):c.1302A>G (p.Lys434=) rs200552004
NM_000059.3(BRCA2):c.1342C>T (p.Arg448Cys) rs80358422
NM_000059.3(BRCA2):c.1343G>A (p.Arg448His) rs80358423
NM_000059.3(BRCA2):c.136C>T (p.Pro46Ser) rs80358425
NM_000059.3(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.3(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.3(BRCA2):c.1427C>G (p.Ser476Cys) rs80358431
NM_000059.3(BRCA2):c.1441A>G (p.Ile481Val) rs760559435
NM_000059.3(BRCA2):c.1447G>C (p.Ala483Pro) rs80358432
NM_000059.3(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.3(BRCA2):c.1462A>G (p.Ile488Val) rs864622352
NM_000059.3(BRCA2):c.1472C>G (p.Thr491Ser) rs397507268
NM_000059.3(BRCA2):c.1478C>T (p.Pro493Leu) rs786202916
NM_000059.3(BRCA2):c.1482G>A (p.Val494=) rs1060502387
NM_000059.3(BRCA2):c.1504A>C (p.Lys502Gln) rs276174809
NM_000059.3(BRCA2):c.1513A>G (p.Ile505Val) rs397507270
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709
NM_000059.3(BRCA2):c.1550A>G (p.Asn517Ser) rs80358439
NM_000059.3(BRCA2):c.1564G>C (p.Gly522Arg) rs80358442
NM_000059.3(BRCA2):c.1568A>G (p.His523Arg) rs80358443
NM_000059.3(BRCA2):c.1599T>C (p.Thr533=) rs80359783
NM_000059.3(BRCA2):c.1627C>A (p.His543Asn) rs80358446
NM_000059.3(BRCA2):c.1630A>G (p.Thr544Ala) rs80358447
NM_000059.3(BRCA2):c.1631C>T (p.Thr544Ile) rs80358448
NM_000059.3(BRCA2):c.1659A>G (p.Leu553=) rs786201343
NM_000059.3(BRCA2):c.165_167delCAA (p.Asn56del) rs11571587
NM_000059.3(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451
NM_000059.3(BRCA2):c.1666A>G (p.Asn556Asp) rs587781794
NM_000059.3(BRCA2):c.167A>C (p.Asn56Thr) rs80358454
NM_000059.3(BRCA2):c.1719T>C (p.Ala573=) rs1450934154
NM_000059.3(BRCA2):c.171C>T (p.Tyr57=) rs201523522
NM_000059.3(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457
NM_000059.3(BRCA2):c.1749G>A (p.Leu583=) rs780324598
NM_000059.3(BRCA2):c.175C>G (p.Pro59Ala) rs56091799
NM_000059.3(BRCA2):c.1763A>G (p.Asn588Ser) rs373400041
NM_000059.3(BRCA2):c.1769T>G (p.Phe590Cys) rs80358459
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.3(BRCA2):c.179A>G (p.Asn60Ser) rs80358463
NM_000059.3(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466
NM_000059.3(BRCA2):c.1810A>G (p.Lys604Glu) rs80358467
NM_000059.3(BRCA2):c.1814T>C (p.Ile605Thr) rs80358468
NM_000059.3(BRCA2):c.1817C>T (p.Pro606Leu) rs80358469
NM_000059.3(BRCA2):c.1818G>A (p.Pro606=) rs76844014
NM_000059.3(BRCA2):c.1820A>C (p.Lys607Thr) rs55962656
NM_000059.3(BRCA2):c.182T>C (p.Leu61Pro) rs1555280374
NM_000059.3(BRCA2):c.1838T>G (p.Leu613Arg) rs587780646
NM_000059.3(BRCA2):c.183A>G (p.Leu61=) rs776638534
NM_000059.3(BRCA2):c.1865C>T (p.Ala622Val) rs80358477
NM_000059.3(BRCA2):c.1875T>A (p.Phe625Leu) rs80358478
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.1909+22delT rs276174816
NM_000059.3(BRCA2):c.1909+22dupT rs276174816
NM_000059.3(BRCA2):c.1909+6T>A rs1057522382
NM_000059.3(BRCA2):c.1909+9_1909+10delGT rs527732001
NM_000059.3(BRCA2):c.1910-6G>A rs1555282344
NM_000059.3(BRCA2):c.1911T>G (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.1951G>T (p.Asp651Tyr) rs80358482
NM_000059.3(BRCA2):c.1959A>G (p.Glu653=) rs276174817
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.3(BRCA2):c.2004G>A (p.Arg668=) rs755049218
NM_000059.3(BRCA2):c.2014A>G (p.Arg672Gly) rs587781647
NM_000059.3(BRCA2):c.2025A>G (p.Thr675=) rs147381487
NM_000059.3(BRCA2):c.2044A>T (p.Ile682Phe) rs398122738
NM_000059.3(BRCA2):c.2109C>T (p.Thr703=) rs762499878
NM_000059.3(BRCA2):c.2125C>G (p.Leu709Val) rs80358489
NM_000059.3(BRCA2):c.2127G>C (p.Leu709=) rs554040246
NM_000059.3(BRCA2):c.2133C>T (p.Cys711=) rs535547513
NM_000059.3(BRCA2):c.2136G>T (p.Leu712=) rs886037813
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.2152G>A (p.Glu718Lys) rs397507281
NM_000059.3(BRCA2):c.215A>G (p.Asn72Ser) rs276174818
NM_000059.3(BRCA2):c.2211A>G (p.Ala737=) rs587780647
NM_000059.3(BRCA2):c.2233A>G (p.Lys745Glu) rs374691587
NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.2256C>T (p.Asp752=) rs766384913
NM_000059.3(BRCA2):c.2262A>G (p.Gln754=) rs1057520621
NM_000059.3(BRCA2):c.2274T>G (p.Ser758Arg) rs142243359
NM_000059.3(BRCA2):c.2287C>G (p.His763Asp) rs863224585
NM_000059.3(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715
NM_000059.3(BRCA2):c.232C>T (p.Pro78Ser) rs398122745
NM_000059.3(BRCA2):c.2330A>G (p.Asp777Gly) rs780489283
NM_000059.3(BRCA2):c.2332G>A (p.Val778Ile) rs587779360
NM_000059.3(BRCA2):c.2337G>T (p.Leu779=) rs80359784
NM_000059.3(BRCA2):c.2348T>G (p.Val783Gly) rs768143929
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.235A>G (p.Ile79Val) rs80358502
NM_000059.3(BRCA2):c.2389A>G (p.Lys797Glu) rs587782737
NM_000059.3(BRCA2):c.2412A>G (p.Glu804=) rs587780866
NM_000059.3(BRCA2):c.2416G>C (p.Asp806His) rs56404215
NM_000059.3(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.3(BRCA2):c.2424A>G (p.Glu808=) rs55646808
NM_000059.3(BRCA2):c.2429C>T (p.Thr810Ile) rs80358509
NM_000059.3(BRCA2):c.2459A>G (p.Asp820Gly) rs80358511
NM_000059.3(BRCA2):c.2461G>A (p.Val821Ile) rs756411508
NM_000059.3(BRCA2):c.2484T>C (p.Tyr828=) rs45619134
NM_000059.3(BRCA2):c.2488A>G (p.Asn830Asp) rs574039421
NM_000059.3(BRCA2):c.2490C>A (p.Asn830Lys) rs56331088
NM_000059.3(BRCA2):c.2524G>C (p.Val842Leu) rs587782454
NM_000059.3(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.3(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.3(BRCA2):c.2572A>G (p.Arg858Gly) rs397507289
NM_000059.3(BRCA2):c.257T>C (p.Leu86Pro) rs572782576
NM_000059.3(BRCA2):c.2589T>A (p.Asn863Lys) rs80358521
NM_000059.3(BRCA2):c.2601T>G (p.Thr867=) rs730881589
NM_000059.3(BRCA2):c.2606C>T (p.Ser869Leu) rs80358523
NM_000059.3(BRCA2):c.2616A>G (p.Lys872=) rs202047206
NM_000059.3(BRCA2):c.2623G>A (p.Val875Ile) rs587782582
NM_000059.3(BRCA2):c.2679A>G (p.Gln893=) rs786203640
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.2680G>A (p.Val894Ile) rs28897715
NM_000059.3(BRCA2):c.2698A>G (p.Asn900Asp) rs55736268
NM_000059.3(BRCA2):c.2716A>G (p.Thr906Ala) rs80358528
NM_000059.3(BRCA2):c.273C>T (p.Tyr91=) rs145988146
NM_000059.3(BRCA2):c.2744C>G (p.Thr915Ser) rs786202795
NM_000059.3(BRCA2):c.2771A>T (p.Asn924Ile) rs80358530
NM_000059.3(BRCA2):c.2779A>G (p.Met927Val) rs786201837
NM_000059.3(BRCA2):c.2787A>G (p.Leu929=) rs878853564
NM_000059.3(BRCA2):c.2793A>C (p.Gly931=) rs786201315
NM_000059.3(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.3(BRCA2):c.280C>T (p.Pro94Ser) rs80358531
NM_000059.3(BRCA2):c.2813C>A (p.Ala938Glu) rs55773834
NM_000059.3(BRCA2):c.2820A>G (p.Gln940=) rs771061558
NM_000059.3(BRCA2):c.2837A>G (p.Asp946Gly) rs55972907
NM_000059.3(BRCA2):c.2841G>T (p.Leu947Phe) rs769971508
NM_000059.3(BRCA2):c.2860_2862delGAG (p.Glu954del) rs80359360
NM_000059.3(BRCA2):c.2875G>A (p.Val959Ile) rs1555282921
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2886T>C (p.His962=) rs786202807
NM_000059.3(BRCA2):c.28A>G (p.Thr10Ala) rs786203080
NM_000059.3(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296
NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.3(BRCA2):c.2924T>A (p.Ile975Asn) rs398122756
NM_000059.3(BRCA2):c.2926_2927delTCinsAT (p.Ser976Ile) rs276174831
NM_000059.3(BRCA2):c.2940T>C (p.Asp980=) rs1555282961
NM_000059.3(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717
NM_000059.3(BRCA2):c.2946A>G (p.Ile982Met) rs80358541
NM_000059.3(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718
NM_000059.3(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545
NM_000059.3(BRCA2):c.2999T>C (p.Ile1000Thr) rs374769365
NM_000059.3(BRCA2):c.3032C>G (p.Thr1011Arg) rs80358548
NM_000059.3(BRCA2):c.3054G>A (p.Lys1018=) rs368404583
NM_000059.3(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.3(BRCA2):c.3073A>G (p.Lys1025Glu) rs80358550
NM_000059.3(BRCA2):c.3111A>G (p.Gln1037=) rs786202967
NM_000059.3(BRCA2):c.316+13A>G rs773097109
NM_000059.3(BRCA2):c.317-10A>G rs81002824
NM_000059.3(BRCA2):c.317-12G>A rs81002841
NM_000059.3(BRCA2):c.317-15A>G rs1555280835
NM_000059.3(BRCA2):c.317-22C>T rs81002794
NM_000059.3(BRCA2):c.3173A>G (p.Lys1058Arg) rs431825302
NM_000059.3(BRCA2):c.3211C>T (p.His1071Tyr) rs80358564
NM_000059.3(BRCA2):c.3213T>C (p.His1071=) rs863224304
NM_000059.3(BRCA2):c.3218A>G (p.Gln1073Arg) rs80358566
NM_000059.3(BRCA2):c.3225T>C (p.Ser1075=) rs779228375
NM_000059.3(BRCA2):c.322A>C (p.Asn108His) rs80358567
NM_000059.3(BRCA2):c.3252T>C (p.Ser1084=) rs1060502412
NM_000059.3(BRCA2):c.3254A>G (p.His1085Arg) rs80358570
NM_000059.3(BRCA2):c.3256A>G (p.Ile1086Val) rs80358571
NM_000059.3(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3299A>T (p.Asn1100Ile) rs80358575
NM_000059.3(BRCA2):c.3302A>G (p.His1101Arg) rs398122761
NM_000059.3(BRCA2):c.3304A>T (p.Asn1102Tyr) rs28897719
NM_000059.3(BRCA2):c.3309A>G (p.Leu1103=) rs786203980
NM_000059.3(BRCA2):c.3326C>T (p.Ala1109Val) rs41293479
NM_000059.3(BRCA2):c.3330A>G (p.Glu1110=) rs369294255
NM_000059.3(BRCA2):c.3392G>A (p.Arg1131Lys) rs1555283214
NM_000059.3(BRCA2):c.3401G>C (p.Ser1134Thr) rs398122764
NM_000059.3(BRCA2):c.3431T>G (p.Val1144Gly) rs80358587
NM_000059.3(BRCA2):c.343A>G (p.Lys115Glu) rs56242644
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3453C>G (p.Ile1151Met) rs80358592
NM_000059.3(BRCA2):c.3458A>G (p.Lys1153Arg) rs80358594
NM_000059.3(BRCA2):c.3479G>A (p.Arg1160Lys) rs183920365
NM_000059.3(BRCA2):c.3494A>G (p.His1165Arg) rs587782201
NM_000059.3(BRCA2):c.3495T>C (p.His1165=) rs776655838
NM_000059.3(BRCA2):c.3509C>T (p.Ala1170Val) rs80358599
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.352C>T (p.Arg118Cys) rs375125172
NM_000059.3(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720
NM_000059.3(BRCA2):c.353G>A (p.Arg118His) rs80358603
NM_000059.3(BRCA2):c.3555A>G (p.Thr1185=) rs876659609
NM_000059.3(BRCA2):c.3562A>G (p.Ile1188Val) rs202230438
NM_000059.3(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604
NM_000059.3(BRCA2):c.3569G>A (p.Arg1190Gln) rs80358605
NM_000059.3(BRCA2):c.3575T>G (p.Phe1192Cys) rs80358606
NM_000059.3(BRCA2):c.3578C>T (p.Ala1193Val) rs431825310
NM_000059.3(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.3(BRCA2):c.3636T>C (p.Asn1212=) rs1555283324
NM_000059.3(BRCA2):c.3644G>A (p.Gly1215Glu) rs773442698
NM_000059.3(BRCA2):c.3661T>C (p.Ser1221Pro) rs80358611
NM_000059.3(BRCA2):c.3672C>T (p.Gly1224=) rs587780650
NM_000059.3(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722
NM_000059.3(BRCA2):c.3711T>C (p.Ala1237=) rs745588537
NM_000059.3(BRCA2):c.3714G>A (p.Val1238=) rs780000105
NM_000059.3(BRCA2):c.3715A>G (p.Lys1239Glu) rs374191973
NM_000059.3(BRCA2):c.3717A>G (p.Lys1239=) rs141196976
NM_000059.3(BRCA2):c.3749A>G (p.Glu1250Gly) rs56400215
NM_000059.3(BRCA2):c.375T>A (p.Asp125Glu) rs80358616
NM_000059.3(BRCA2):c.3767A>G (p.His1256Arg) rs80358618
NM_000059.3(BRCA2):c.3786A>T (p.Ser1262=) rs1042077901
NM_000059.3(BRCA2):c.3789T>C (p.Ser1263=) rs876659185
NM_000059.3(BRCA2):c.3794G>T (p.Cys1265Phe) rs397507315
NM_000059.3(BRCA2):c.379G>T (p.Ala127Ser) rs80358621
NM_000059.3(BRCA2):c.3814A>G (p.Met1272Val) rs80358624
NM_000059.3(BRCA2):c.3822G>A (p.Lys1274=) rs1555283410
NM_000059.3(BRCA2):c.3839A>T (p.Asp1280Val) rs56337919
NM_000059.3(BRCA2):c.3840T>C (p.Asp1280=) rs786201327
NM_000059.3(BRCA2):c.3845C>T (p.Thr1282Ile) rs1555283423
NM_000059.3(BRCA2):c.3858_3860delAAA (p.Lys1286del) rs80359406
NM_000059.3(BRCA2):c.3864_3866delTAA (p.Asn1288del) rs276174837
NM_000059.3(BRCA2):c.3874C>T (p.Leu1292=) rs587780867
NM_000059.3(BRCA2):c.3880T>C (p.Leu1294=) rs786201236
NM_000059.3(BRCA2):c.3885A>G (p.Gln1295=) rs876659864
NM_000059.3(BRCA2):c.3909C>A (p.Gly1303=) rs80359786
NM_000059.3(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723
NM_000059.3(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636
NM_000059.3(BRCA2):c.3966C>T (p.Asn1322=) rs80358647
NM_000059.3(BRCA2):c.3989A>G (p.Asn1330Ser) rs1057520792
NM_000059.3(BRCA2):c.4007T>C (p.Phe1336Ser) rs757305371
NM_000059.3(BRCA2):c.4023A>C (p.Ser1341=) rs276174840
NM_000059.3(BRCA2):c.4037_4043delCTGTTTGinsT (p.Thr1346_Cys1348delinsIle) rs276174841
NM_000059.3(BRCA2):c.4046T>C (p.Ile1349Thr) rs80358654
NM_000059.3(BRCA2):c.4054G>T (p.Asp1352Tyr) rs80358655
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.4062G>A (p.Thr1354=) rs768735660
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4077T>C (p.Thr1359=) rs1057520979
NM_000059.3(BRCA2):c.4089C>T (p.Asn1363=) rs80359787
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657
NM_000059.3(BRCA2):c.4110C>A (p.Gly1370=) rs758430181
NM_000059.3(BRCA2):c.4110C>T (p.Gly1370=) rs758430181
NM_000059.3(BRCA2):c.4146_4148delAGA (p.Glu1382del) rs80359432
NM_000059.3(BRCA2):c.4178C>T (p.Ala1393Val) rs398122776
NM_000059.3(BRCA2):c.4179G>A (p.Ala1393=) rs770531115
NM_000059.3(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.3(BRCA2):c.4194A>G (p.Ala1398=) rs1355279584
NM_000059.3(BRCA2):c.4242G>A (p.Thr1414=) rs750495335
NM_000059.3(BRCA2):c.4242G>T (p.Thr1414=) rs750495335
NM_000059.3(BRCA2):c.426-12G>A rs81002880
NM_000059.3(BRCA2):c.426-20T>G rs1064795008
NM_000059.3(BRCA2):c.426-37T>A rs81002859
NM_000059.3(BRCA2):c.4269T>C (p.Thr1423=) rs786201377
NM_000059.3(BRCA2):c.4271C>G (p.Ser1424Cys) rs80358664
NM_000059.3(BRCA2):c.4301A>T (p.Lys1434Ile) rs397507714
NM_000059.3(BRCA2):c.4315G>A (p.Ala1439Thr) rs80358666
NM_000059.3(BRCA2):c.4316C>A (p.Ala1439Asp) rs80358667
NM_000059.3(BRCA2):c.4320A>G (p.Lys1440=) rs769535925
NM_000059.3(BRCA2):c.4336A>G (p.Ile1446Val) rs876661017
NM_000059.3(BRCA2):c.433_435delGTT (p.Val145del) rs80359442
NM_000059.3(BRCA2):c.438A>G (p.Leu146=) rs200942633
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.3(BRCA2):c.441A>G (p.Gln147=) rs80358676
NM_000059.3(BRCA2):c.442T>C (p.Cys148Arg) rs80358677
NM_000059.3(BRCA2):c.4436G>C (p.Ser1479Thr) rs80358678
NM_000059.3(BRCA2):c.4461A>G (p.Lys1487=) rs786201350
NM_000059.3(BRCA2):c.4483G>A (p.Val1495Ile) rs80358680
NM_000059.3(BRCA2):c.4494T>A (p.Gly1498=) rs373160367
NM_000059.3(BRCA2):c.4515C>A (p.Thr1505=) rs1555283817
NM_000059.3(BRCA2):c.4530C>T (p.Pro1510=) rs757731214
NM_000059.3(BRCA2):c.4531G>A (p.Glu1511Lys) rs376338226
NM_000059.3(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684
NM_000059.3(BRCA2):c.4535G>A (p.Arg1512His) rs80358685
NM_000059.3(BRCA2):c.455C>A (p.Thr152Lys) rs80358691
NM_000059.3(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506
NM_000059.3(BRCA2):c.4578A>G (p.Thr1526=) rs202022822
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.3(BRCA2):c.4587G>T (p.Gly1529=) rs1060502489
NM_000059.3(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694
NM_000059.3(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.3(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698
NM_000059.3(BRCA2):c.467A>G (p.Asp156Gly) rs68071147
NM_000059.3(BRCA2):c.4681C>A (p.His1561Asn) rs2219594
NM_000059.3(BRCA2):c.4698C>T (p.Thr1566=) rs750813972
NM_000059.3(BRCA2):c.4699C>T (p.Leu1567=) rs146514381
NM_000059.3(BRCA2):c.4703A>G (p.Lys1568Arg) rs80358699
NM_000059.3(BRCA2):c.4718G>A (p.Cys1573Tyr) rs56249050
NM_000059.3(BRCA2):c.475+14C>T rs55698822
NM_000059.3(BRCA2):c.4759G>A (p.Ala1587Thr) rs56137239
NM_000059.3(BRCA2):c.476-3C>T rs371431745
NM_000059.3(BRCA2):c.476-9_476-8insT rs276174849
NM_000059.3(BRCA2):c.4767A>G (p.Pro1589=) rs755818549
NM_000059.3(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703
NM_000059.3(BRCA2):c.4791T>C (p.Ser1597=) rs786201728
NM_000059.3(BRCA2):c.4798_4800delAAT (p.Asn1600del) rs276174851
NM_000059.3(BRCA2):c.4828G>A (p.Val1610Met) rs80358705
NM_000059.3(BRCA2):c.4830G>A (p.Val1610=) rs80359789
NM_000059.3(BRCA2):c.4830G>T (p.Val1610=) rs80359789
NM_000059.3(BRCA2):c.4850G>A (p.Ser1617Asn) rs397507341
NM_000059.3(BRCA2):c.4858T>C (p.Leu1620=) rs528771743
NM_000059.3(BRCA2):c.4901T>C (p.Phe1634Ser) rs80358715
NM_000059.3(BRCA2):c.4915G>A (p.Val1639Ile) rs80358716
NM_000059.3(BRCA2):c.4927G>A (p.Val1643Ile) rs879254182
NM_000059.3(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.3(BRCA2):c.497A>T (p.His166Leu) rs876658364
NM_000059.3(BRCA2):c.4987G>C (p.Val1663Leu) rs587781763
NM_000059.3(BRCA2):c.5020A>G (p.Ser1674Gly) rs80358725
NM_000059.3(BRCA2):c.5028T>C (p.Ser1676=) rs762458631
NM_000059.3(BRCA2):c.502C>A (p.Pro168Thr) rs80358726
NM_000059.3(BRCA2):c.506A>G (p.Lys169Arg) rs80358730
NM_000059.3(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.3(BRCA2):c.5095G>A (p.Asp1699Asn) rs80358731
NM_000059.3(BRCA2):c.5117A>C (p.Asn1706Thr) rs730881536
NM_000059.3(BRCA2):c.5126A>G (p.Asp1709Gly) rs786202836
NM_000059.3(BRCA2):c.5144T>C (p.Leu1715Ser) rs1064793634
NM_000059.3(BRCA2):c.5153A>G (p.Asn1718Ser) rs80358739
NM_000059.3(BRCA2):c.516+10C>T rs81002896
NM_000059.3(BRCA2):c.516+17G>T rs765435155
NM_000059.3(BRCA2):c.5165G>A (p.Ser1722Asn) rs773707172
NM_000059.3(BRCA2):c.5169T>C (p.Thr1723=) rs1555284091
NM_000059.3(BRCA2):c.517-11T>C rs81002828
NM_000059.3(BRCA2):c.517-12C>A rs398122795
NM_000059.3(BRCA2):c.517-16T>C rs81002839
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.517-4C>G rs81002804
NM_000059.3(BRCA2):c.5170A>G (p.Ile1724Val) rs35335654
NM_000059.3(BRCA2):c.5171T>C (p.Ile1724Thr) rs80358743
NM_000059.3(BRCA2):c.5191C>A (p.His1731Asn) rs80358745
NM_000059.3(BRCA2):c.5195T>C (p.Leu1732Pro) rs786202208
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.3(BRCA2):c.5200G>A (p.Glu1734Lys) rs786202543
NM_000059.3(BRCA2):c.5205A>G (p.Lys1735=) rs1131692115
NM_000059.3(BRCA2):c.5217T>C (p.Tyr1739=) rs80358746
NM_000059.3(BRCA2):c.521G>A (p.Arg174His) rs80358747
NM_000059.3(BRCA2):c.5224_5229delAACAGT (p.Asn1742_Ser1743del) rs276174855
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
NM_000059.3(BRCA2):c.5278T>G (p.Ser1760Ala) rs28897735
NM_000059.3(BRCA2):c.5289C>T (p.Leu1763=) rs763052573
NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.3(BRCA2):c.5319G>A (p.Glu1773=) rs376257217
NM_000059.3(BRCA2):c.5331_5333delGAA (p.Lys1777del) rs398122529
NM_000059.3(BRCA2):c.5344C>A (p.Gln1782Lys) rs80358757
NM_000059.3(BRCA2):c.5365A>G (p.Lys1789Glu) rs587782240
NM_000059.3(BRCA2):c.5378A>G (p.Asn1793Ser) rs80358759
NM_000059.3(BRCA2):c.5390C>G (p.Ala1797Gly) rs80358760
NM_000059.3(BRCA2):c.53G>A (p.Arg18His) rs80358762
NM_000059.3(BRCA2):c.5411T>C (p.Val1804Ala) rs370252983
NM_000059.3(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765
NM_000059.3(BRCA2):c.5423T>C (p.Ile1808Thr) rs397507350
NM_000059.3(BRCA2):c.5427C>T (p.Cys1809=) rs80359791
NM_000059.3(BRCA2):c.5428G>A (p.Val1810Ile) rs80358766
NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768
NM_000059.3(BRCA2):c.5474C>T (p.Ala1825Val) rs397507352
NM_000059.3(BRCA2):c.5479A>G (p.Ile1827Val) rs80358770
NM_000059.3(BRCA2):c.5495C>A (p.Ser1832Tyr) rs138489917
NM_000059.3(BRCA2):c.5498A>G (p.Asn1833Ser) rs587782601
NM_000059.3(BRCA2):c.549T>C (p.Ser183=) rs80359792
NM_000059.3(BRCA2):c.5503A>G (p.Asn1835Asp) rs80358771
NM_000059.3(BRCA2):c.5508T>G (p.Asn1836Lys) rs80358774
NM_000059.3(BRCA2):c.551T>C (p.Leu184Pro) rs80358775
NM_000059.3(BRCA2):c.5529A>T (p.Ala1843=) rs372951842
NM_000059.3(BRCA2):c.5536A>G (p.Ile1846Val) rs587782375
NM_000059.3(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776
NM_000059.3(BRCA2):c.5554G>A (p.Val1852Ile) rs80358777
NM_000059.3(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782
NM_000059.3(BRCA2):c.5631C>T (p.Asn1877=) rs374326934
NM_000059.3(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784
NM_000059.3(BRCA2):c.5634C>T (p.Asn1878=) rs80358784
NM_000059.3(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.5649A>C (p.Lys1883Asn) rs80358787
NM_000059.3(BRCA2):c.5652T>C (p.Ile1884=) rs766067138
NM_000059.3(BRCA2):c.5659A>G (p.Thr1887Ala) rs786202618
NM_000059.3(BRCA2):c.5661G>A (p.Thr1887=) rs80359793
NM_000059.3(BRCA2):c.5663A>G (p.Lys1888Arg) rs80358791
NM_000059.3(BRCA2):c.5683G>A (p.Glu1895Lys) rs146351301
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.5714A>G (p.His1905Arg) rs80358796
NM_000059.3(BRCA2):c.5723T>C (p.Leu1908Pro) rs80358797
NM_000059.3(BRCA2):c.5729A>T (p.Asn1910Ile) rs276174863
NM_000059.3(BRCA2):c.5733T>G (p.Asp1911Glu) rs367823201
NM_000059.3(BRCA2):c.5737T>C (p.Cys1913Arg) rs80358799
NM_000059.3(BRCA2):c.5737T>G (p.Cys1913Gly) rs80358799
NM_000059.3(BRCA2):c.5741G>C (p.Ser1914Thr) rs80358801
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5745G>A (p.Thr1915=) rs1799953
NM_000059.3(BRCA2):c.5748T>G (p.His1916Gln) rs1555284387
NM_000059.3(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803
NM_000059.3(BRCA2):c.5753A>G (p.His1918Arg) rs80358804
NM_000059.3(BRCA2):c.575T>C (p.Met192Thr) rs80358805
NM_000059.3(BRCA2):c.5763T>G (p.Phe1921Leu) rs730881540
NM_000059.3(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005
NM_000059.3(BRCA2):c.5777G>A (p.Ser1926Asn) rs869320795
NM_000059.3(BRCA2):c.5793A>G (p.Gln1931=) rs371682489
NM_000059.3(BRCA2):c.5808G>A (p.Met1936Ile) rs759138390
NM_000059.3(BRCA2):c.5813G>C (p.Gly1938Ala) rs41293499
NM_000059.3(BRCA2):c.5836T>C (p.Ser1946Pro) rs80358811
NM_000059.3(BRCA2):c.5839C>T (p.Pro1947Ser) rs80358812
NM_000059.3(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817
NM_000059.3(BRCA2):c.5879G>A (p.Cys1960Tyr) rs56157628
NM_000059.3(BRCA2):c.5880T>C (p.Cys1960=) rs368055906
NM_000059.3(BRCA2):c.5882G>A (p.Ser1961Asn) rs80358820
NM_000059.3(BRCA2):c.5885T>C (p.Ile1962Thr) rs1060502377
NM_000059.3(BRCA2):c.5893C>T (p.Leu1965Phe) rs398122542
NM_000059.3(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822
NM_000059.3(BRCA2):c.5897A>G (p.His1966Arg) rs80358823
NM_000059.3(BRCA2):c.5921C>T (p.Thr1974Ile) rs55730620
NM_000059.3(BRCA2):c.5928G>T (p.Gly1976=) rs752858082
NM_000059.3(BRCA2):c.5934T>C (p.Phe1978=) rs758505680
NM_000059.3(BRCA2):c.5962G>A (p.Val1988Ile) rs28897739
NM_000059.3(BRCA2):c.5970T>C (p.Asp1990=) rs1064794160
NM_000059.3(BRCA2):c.5973T>G (p.Ala1991=) rs876660687
NM_000059.3(BRCA2):c.5975C>T (p.Ser1992Leu) rs80358830
NM_000059.3(BRCA2):c.5979A>G (p.Leu1993=) rs773999877
NM_000059.3(BRCA2):c.5985C>T (p.Asn1995=) rs374620036
NM_000059.3(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833
NM_000059.3(BRCA2):c.5988A>G (p.Ala1996=) rs773045221
NM_000059.3(BRCA2):c.6012A>G (p.Glu2004=) rs572976024
NM_000059.3(BRCA2):c.6030C>A (p.Val2010=) rs786201328
NM_000059.3(BRCA2):c.6054T>C (p.Ser2018=) rs540799830
NM_000059.3(BRCA2):c.606C>T (p.Pro202=) rs747726394
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6101G>A (p.Arg2034His) rs80358849
NM_000059.3(BRCA2):c.6125A>G (p.Gln2042Arg) rs80358852
NM_000059.3(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.3(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579
NM_000059.3(BRCA2):c.6132C>T (p.Gly2044=) rs1057520745
NM_000059.3(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853
NM_000059.3(BRCA2):c.6172T>A (p.Phe2058Ile) rs80358857
NM_000059.3(BRCA2):c.6216C>T (p.Ser2072=) rs786201410
NM_000059.3(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
NM_000059.3(BRCA2):c.6225A>C (p.Lys2075Asn) rs80358863
NM_000059.3(BRCA2):c.6231G>C (p.Lys2077Asn) rs541826447
NM_000059.3(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.3(BRCA2):c.6269A>G (p.His2090Arg) rs397507366
NM_000059.3(BRCA2):c.6271A>C (p.Ser2091Arg) rs398122550
NM_000059.3(BRCA2):c.6273T>A (p.Ser2091Arg) rs966360777
NM_000059.3(BRCA2):c.627C>A (p.Leu209=) rs28897704
NM_000059.3(BRCA2):c.6288T>G (p.Pro2096=) rs372527810
NM_000059.3(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866
NM_000059.3(BRCA2):c.6293C>T (p.Ser2098Phe) rs80358867
NM_000059.3(BRCA2):c.6304G>A (p.Val2102Ile) rs80358869
NM_000059.3(BRCA2):c.631+18G>A rs759965817
NM_000059.3(BRCA2):c.631+43G>T rs276174869
NM_000059.3(BRCA2):c.631+7A>G rs431825339
NM_000059.3(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926
NM_000059.3(BRCA2):c.632-10delT rs431825340
NM_000059.3(BRCA2):c.632-13T>G rs775947267
NM_000059.3(BRCA2):c.632-16A>C rs81002905
NM_000059.3(BRCA2):c.632-9A>G rs81002855
NM_000059.3(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6323G>T (p.Arg2108Leu) rs35029074
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874
NM_000059.3(BRCA2):c.6362A>G (p.Glu2121Gly) rs397507846
NM_000059.3(BRCA2):c.6369A>C (p.Glu2123Asp) rs1064793571
NM_000059.3(BRCA2):c.636A>G (p.Arg212=) rs950724350
NM_000059.3(BRCA2):c.6399_6401delAAA (p.Asn2135del) rs80359581
NM_000059.3(BRCA2):c.63A>G (p.Lys21=) rs1280004443
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.6420T>G (p.Gly2140=) rs80359794
NM_000059.3(BRCA2):c.6443C>A (p.Ser2148Tyr) rs80358880
NM_000059.3(BRCA2):c.6455C>A (p.Ser2152Tyr) rs80358881
NM_000059.3(BRCA2):c.6458C>T (p.Pro2153Leu) rs276174873
NM_000059.3(BRCA2):c.6461A>C (p.Tyr2154Ser) rs80358882
NM_000059.3(BRCA2):c.6475C>G (p.Gln2159Glu) rs398122558
NM_000059.3(BRCA2):c.6479A>G (p.Gln2160Arg) rs587781610
NM_000059.3(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.3(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560
NM_000059.3(BRCA2):c.6541G>C (p.Gly2181Arg) rs371067421
NM_000059.3(BRCA2):c.6550C>G (p.Gln2184Glu) rs80358887
NM_000059.3(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712
NM_000059.3(BRCA2):c.6568G>A (p.Val2190Ile) rs80358888
NM_000059.3(BRCA2):c.6613G>A (p.Val2205Met) rs80358889
NM_000059.3(BRCA2):c.6633T>C (p.Val2211=) rs80359795
NM_000059.3(BRCA2):c.6640A>G (p.Thr2214Ala) rs377200598
NM_000059.3(BRCA2):c.6665A>G (p.Tyr2222Cys) rs397507875
NM_000059.3(BRCA2):c.6691G>A (p.Ala2231Thr) rs758379999
NM_000059.3(BRCA2):c.67+16A>T rs529148674
NM_000059.3(BRCA2):c.67+17T>C rs767648965
NM_000059.3(BRCA2):c.67+18A>G rs1057524048
NM_000059.3(BRCA2):c.67+4T>C rs373546450
NM_000059.3(BRCA2):c.67+62T>G rs11571574
NM_000059.3(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503
NM_000059.3(BRCA2):c.6713A>G (p.Asp2238Gly) rs80358895
NM_000059.3(BRCA2):c.6714T>G (p.Asp2238Glu) rs28897742
NM_000059.3(BRCA2):c.6714_6716delTGA (p.Asp2238del) rs786202738
NM_000059.3(BRCA2):c.6720G>A (p.Leu2240=) rs1555284823
NM_000059.3(BRCA2):c.6738A>G (p.Pro2246=) rs760272304
NM_000059.3(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896
NM_000059.3(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899
NM_000059.3(BRCA2):c.6750A>C (p.Thr2250=) rs864622449
NM_000059.3(BRCA2):c.6761T>A (p.Phe2254Tyr) rs786202915
NM_000059.3(BRCA2):c.6771C>T (p.Pro2257=) rs373696964
NM_000059.3(BRCA2):c.6772G>A (p.Glu2258Lys) rs730881549
NM_000059.3(BRCA2):c.6785T>G (p.Met2262Arg) rs80358904
NM_000059.3(BRCA2):c.68-6A>T rs1555280325
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906
NM_000059.3(BRCA2):c.6806T>C (p.Ile2269Thr) rs398122564
NM_000059.3(BRCA2):c.682-12_682-11delTA rs276174879
NM_000059.3(BRCA2):c.682-13A>G rs81002888
NM_000059.3(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212
NM_000059.3(BRCA2):c.6831T>C (p.Leu2277=) rs786201481
NM_000059.3(BRCA2):c.6837A>G (p.Leu2279=) rs431825346
NM_000059.3(BRCA2):c.6840G>A (p.Val2280=)
NM_000059.3(BRCA2):c.6841+3A>T rs81002825
NM_000059.3(BRCA2):c.6842-11T>A rs81002877
NM_000059.3(BRCA2):c.6842-14A>G rs81002821
NM_000059.3(BRCA2):c.6842-19A>G rs81002865
NM_000059.3(BRCA2):c.6842-20T>C rs81002811
NM_000059.3(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235
NM_000059.3(BRCA2):c.6871A>G (p.Asn2291Asp) rs80358911
NM_000059.3(BRCA2):c.6876A>G (p.Glu2292=) rs876660897
NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912
NM_000059.3(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.3(BRCA2):c.6892G>A (p.Glu2298Lys) rs80358914
NM_000059.3(BRCA2):c.6922A>G (p.Lys2308Glu) rs398122570
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.6937+13T>G rs587780868
NM_000059.3(BRCA2):c.6937+594T>G rs191253965
NM_000059.3(BRCA2):c.6938-15A>G rs587782358
NM_000059.3(BRCA2):c.6943A>C (p.Ile2315Leu) rs80358918
NM_000059.3(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921
NM_000059.3(BRCA2):c.695A>G (p.Tyr232Cys) rs372188754
NM_000059.3(BRCA2):c.6960G>A (p.Leu2320=) rs373134168
NM_000059.3(BRCA2):c.6986C>T (p.Pro2329Leu) rs80358925
NM_000059.3(BRCA2):c.6987G>A (p.Pro2329=) rs756619373
NM_000059.3(BRCA2):c.7006C>T (p.Arg2336Cys) rs431825347
NM_000059.3(BRCA2):c.7007+18T>A rs377471435
NM_000059.3(BRCA2):c.7007+53G>A rs56014558
NM_000059.3(BRCA2):c.7008-13C>T rs81002792
NM_000059.3(BRCA2):c.7008-20_7008-17del4 rs276174887
NM_000059.3(BRCA2):c.7008-21T>C rs761989332
NM_000059.3(BRCA2):c.7008-25C>T rs751803680
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.7008-9C>T rs186220967
NM_000059.3(BRCA2):c.7010C>T (p.Thr2337Ile) rs80358927
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7020A>G (p.Glu2340=) rs886042269
NM_000059.3(BRCA2):c.7021C>T (p.Arg2341Cys) rs41293505
NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7056T>A (p.Pro2352=) rs276174888
NM_000059.3(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935
NM_000059.3(BRCA2):c.708T>C (p.His236=) rs185506536
NM_000059.3(BRCA2):c.7096C>G (p.Leu2366Val) rs80358941
NM_000059.3(BRCA2):c.7102T>G (p.Leu2368Val) rs397507382
NM_000059.3(BRCA2):c.7104G>A (p.Leu2368=) rs764698623
NM_000059.3(BRCA2):c.7121A>G (p.Asn2374Ser) rs1379054137
NM_000059.3(BRCA2):c.7140T>C (p.His2380=)
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7152A>G (p.Gln2384=) rs80359796
NM_000059.3(BRCA2):c.7162A>G (p.Thr2388Ala) rs1060502390
NM_000059.3(BRCA2):c.7178T>C (p.Met2393Thr) rs431825351
NM_000059.3(BRCA2):c.7182A>G (p.Arg2394=) rs80359797
NM_000059.3(BRCA2):c.7185C>T (p.His2395=) rs730881580
NM_000059.3(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.3(BRCA2):c.7188G>T (p.Leu2396Phe) rs587780871
NM_000059.3(BRCA2):c.7222C>T (p.Pro2408Ser) rs398122577
NM_000059.3(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950
NM_000059.3(BRCA2):c.7239A>G (p.Lys2413=) rs763727386
NM_000059.3(BRCA2):c.7241C>T (p.Ser2414Leu) rs80358951
NM_000059.3(BRCA2):c.7241_7242invCA (p.Ser2414Leu)
NM_000059.3(BRCA2):c.7252A>G (p.Arg2418Gly) rs80358953
NM_000059.3(BRCA2):c.7278T>A (p.Ile2426=) rs372377916
NM_000059.3(BRCA2):c.7307A>T (p.Asn2436Ile) rs80358955
NM_000059.3(BRCA2):c.7311T>A (p.Ile2437=) rs1131692103
NM_000059.3(BRCA2):c.7313A>G (p.Asp2438Gly) rs80358957
NM_000059.3(BRCA2):c.7317A>G (p.Gly2439=) rs587780660
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7341T>C (p.Asn2447=) rs4986858
NM_000059.3(BRCA2):c.7347T>C (p.Ile2449=) rs1057520563
NM_000059.3(BRCA2):c.7354A>G (p.Asn2452Asp) rs398122580
NM_000059.3(BRCA2):c.7355A>G (p.Asn2452Ser) rs398122581
NM_000059.3(BRCA2):c.740T>C (p.Ile247Thr) rs80358962
NM_000059.3(BRCA2):c.7413A>G (p.Thr2471=) rs138067005
NM_000059.3(BRCA2):c.7415A>C (p.Lys2472Thr) rs80358963
NM_000059.3(BRCA2):c.7418G>A (p.Cys2473Tyr) rs55924966
NM_000059.3(BRCA2):c.742G>A (p.Ala248Thr) rs55854959
NM_000059.3(BRCA2):c.7435+10G>A rs81002793
NM_000059.3(BRCA2):c.7435+17delT rs1472572621
NM_000059.3(BRCA2):c.7435+6G>A rs81002852
NM_000059.3(BRCA2):c.7436-14T>G rs81002814
NM_000059.3(BRCA2):c.7436-20A>G rs878853604
NM_000059.3(BRCA2):c.7436-4A>G rs81002904
NM_000059.3(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967
NM_000059.3(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.7470A>G (p.Ile2490Met) rs1057520611
NM_000059.3(BRCA2):c.747T>A (p.Ser249=) rs767165913
NM_000059.3(BRCA2):c.7481G>A (p.Arg2494Gln) rs80358973
NM_000059.3(BRCA2):c.7484T>C (p.Ile2495Thr) rs80358974
NM_000059.3(BRCA2):c.7491G>A (p.Lys2497=) rs786203092
NM_000059.3(BRCA2):c.7499G>C (p.Arg2500Thr) rs80358976
NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.3(BRCA2):c.7505G>A (p.Arg2502His) rs56070345
NM_000059.3(BRCA2):c.7507G>A (p.Val2503Ile) rs587782191
NM_000059.3(BRCA2):c.7509C>T (p.Val2503=) rs766080516
NM_000059.3(BRCA2):c.7521A>G (p.Pro2507=) rs759383358
NM_000059.3(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978
NM_000059.3(BRCA2):c.7524C>T (p.Gly2508=) rs1555286266
NM_000059.3(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.7545A>G (p.Thr2515=) rs767555621
NM_000059.3(BRCA2):c.7559G>A (p.Arg2520Gln) rs80358982
NM_000059.3(BRCA2):c.7565C>T (p.Ser2522Phe) rs80358985
NM_000059.3(BRCA2):c.7596C>T (p.Pro2532=) rs748631472
NM_000059.3(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012
NM_000059.3(BRCA2):c.7602G>A (p.Ala2534=) rs81002826
NM_000059.3(BRCA2):c.7618-16T>G rs397507924
NM_000059.3(BRCA2):c.7618-19G>T rs371417084
NM_000059.3(BRCA2):c.7618-6G>T rs1057520251
NM_000059.3(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.7637C>T (p.Ser2546Phe) rs398122586
NM_000059.3(BRCA2):c.7644T>C (p.His2548=) rs971280622
NM_000059.3(BRCA2):c.7651A>C (p.Lys2551Gln) rs398122587
NM_000059.3(BRCA2):c.7671A>G (p.Ala2557=) rs1057524178
NM_000059.3(BRCA2):c.7684T>C (p.Phe2562Leu) rs80358995
NM_000059.3(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095
NM_000059.3(BRCA2):c.7749T>C (p.Asp2583=) rs786201284
NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340
NM_000059.3(BRCA2):c.7764A>T (p.Ile2588=) rs80359798
NM_000059.3(BRCA2):c.777A>G (p.Arg259=) rs431825356
NM_000059.3(BRCA2):c.7805+11C>A rs1060504610
NM_000059.3(BRCA2):c.7805+13A>G rs149769332
NM_000059.3(BRCA2):c.7805+6C>G rs81002819
NM_000059.3(BRCA2):c.7805+8A>G rs81002847
NM_000059.3(BRCA2):c.7806-40A>G rs9590939
NM_000059.3(BRCA2):c.7806-6delG rs764374133
NM_000059.3(BRCA2):c.7806-7T>C rs398122592
NM_000059.3(BRCA2):c.7916C>T (p.Pro2639Leu) rs774723315
NM_000059.3(BRCA2):c.7928C>G (p.Ala2643Gly) rs80359018
NM_000059.3(BRCA2):c.793+18T>C rs567889781
NM_000059.3(BRCA2):c.793+6T>C rs1222477192
NM_000059.3(BRCA2):c.7935A>G (p.Arg2645=) rs1283509388
NM_000059.3(BRCA2):c.794-11T>C rs81002822
NM_000059.3(BRCA2):c.7947A>G (p.Pro2649=) rs80359799
NM_000059.3(BRCA2):c.796T>C (p.Phe266Leu) rs587782433
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.7976+23C>T rs183623188
NM_000059.3(BRCA2):c.7977-15T>G rs431825361
NM_000059.3(BRCA2):c.7980T>C (p.Tyr2660=) rs397507949
NM_000059.3(BRCA2):c.7985C>T (p.Thr2662Met) rs431825362
NM_000059.3(BRCA2):c.7992T>A (p.Ile2664=) rs80359800
NM_000059.3(BRCA2):c.7992T>C (p.Ile2664=) rs80359800
NM_000059.3(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745
NM_000059.3(BRCA2):c.7995T>C (p.Asp2665=) rs200757418
NM_000059.3(BRCA2):c.8007A>G (p.Arg2669=) rs143999963
NM_000059.3(BRCA2):c.800G>A (p.Gly267Glu) rs80359036
NM_000059.3(BRCA2):c.8010G>A (p.Ser2670=) rs146430937
NM_000059.3(BRCA2):c.8014A>G (p.Ile2672Val) rs80359037
NM_000059.3(BRCA2):c.8027T>C (p.Met2676Thr) rs80359038
NM_000059.3(BRCA2):c.8036A>G (p.Asp2679Gly) rs80359041
NM_000059.3(BRCA2):c.8061T>C (p.Val2687=) rs776992904
NM_000059.3(BRCA2):c.8064C>T (p.Leu2688=) rs1057521686
NM_000059.3(BRCA2):c.807A>G (p.Thr269=) rs142072914
NM_000059.3(BRCA2):c.8084C>T (p.Ser2695Leu) rs80359048
NM_000059.3(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051
NM_000059.3(BRCA2):c.8091C>T (p.Ser2697=) rs140782158
NM_000059.3(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052
NM_000059.3(BRCA2):c.8103T>G (p.Ser2701=) rs80359801
NM_000059.3(BRCA2):c.8111C>T (p.Ser2704Phe) rs80359054
NM_000059.3(BRCA2):c.8113A>G (p.Ser2705Gly) rs756105620
NM_000059.3(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055
NM_000059.3(BRCA2):c.811G>A (p.Gly271Arg) rs786204274
NM_000059.3(BRCA2):c.8124T>G (p.Thr2708=) rs587780662
NM_000059.3(BRCA2):c.812G>A (p.Gly271Glu) rs1247032180
NM_000059.3(BRCA2):c.8134G>A (p.Asp2712Asn) rs80359056
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8151C>T (p.Ala2717=) rs774808067
NM_000059.3(BRCA2):c.8154T>C (p.Ile2718=) rs148880015
NM_000059.3(BRCA2):c.8163T>C (p.Leu2721=) rs786201741
NM_000059.3(BRCA2):c.8182G>C (p.Val2728Leu) rs28897749
NM_000059.3(BRCA2):c.8187G>A (p.Lys2729=) rs80359065
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8192A>G (p.Gln2731Arg) rs753837544
NM_000059.3(BRCA2):c.8193G>A (p.Gln2731=) rs1555287034
NM_000059.3(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069
NM_000059.3(BRCA2):c.8215G>C (p.Val2739Leu) rs80359069
NM_000059.3(BRCA2):c.825A>T (p.Lys275Asn) rs397507399
NM_000059.3(BRCA2):c.8298A>G (p.Thr2766=) rs730881594
NM_000059.3(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000059.3(BRCA2):c.8324T>G (p.Met2775Arg) rs80359073
NM_000059.3(BRCA2):c.8331+5A>G rs1555287099
NM_000059.3(BRCA2):c.8332-6G>T rs587780872
NM_000059.3(BRCA2):c.8355T>C (p.Pro2785=) rs1057524419
NM_000059.3(BRCA2):c.8356G>A (p.Ala2786Thr) rs80359077
NM_000059.3(BRCA2):c.8359C>T (p.Arg2787Cys) rs41293517
NM_000059.3(BRCA2):c.8360G>A (p.Arg2787His) rs80359078
NM_000059.3(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136
NM_000059.3(BRCA2):c.8417C>T (p.Ser2806Leu) rs587782785
NM_000059.3(BRCA2):c.8418A>G (p.Ser2806=) rs1555287636
NM_000059.3(BRCA2):c.841G>A (p.Asp281Asn) rs80359088
NM_000059.3(BRCA2):c.8428A>G (p.Ser2810Gly) rs80359089
NM_000059.3(BRCA2):c.8432A>G (p.Asp2811Gly) rs80359090
NM_000059.3(BRCA2):c.8435G>A (p.Gly2812Glu) rs80359091
NM_000059.3(BRCA2):c.8442T>C (p.Asn2814=) rs1131692106
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.847A>G (p.Ile283Val) rs80359097
NM_000059.3(BRCA2):c.8487+14T>A rs767591414
NM_000059.3(BRCA2):c.8487+19A>G rs11571743
NM_000059.3(BRCA2):c.8487+47C>T rs11571744
NM_000059.3(BRCA2):c.8487+4T>C rs81002801
NM_000059.3(BRCA2):c.8487+8G>A rs81002838
NM_000059.3(BRCA2):c.8488-10A>G rs749196803
NM_000059.3(BRCA2):c.8488-19G>A rs398122607
NM_000059.3(BRCA2):c.8488-5T>C rs533806629
NM_000059.3(BRCA2):c.8499G>A (p.Lys2833=) rs558819788
NM_000059.3(BRCA2):c.8505A>G (p.Ser2835=) rs765655952
NM_000059.3(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104
NM_000059.3(BRCA2):c.8525G>A (p.Arg2842His) rs80359105
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.856T>C (p.Ser286Pro) rs80359111
NM_000059.3(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114
NM_000059.3(BRCA2):c.8632+13A>G
NM_000059.3(BRCA2):c.8632+6A>G rs81002894
NM_000059.3(BRCA2):c.8633-16C>G rs81002818
NM_000059.3(BRCA2):c.8633-26A>G rs56268579
NM_000059.3(BRCA2):c.8633-4T>A rs397507407
NM_000059.3(BRCA2):c.8647C>T (p.Pro2883Ser) rs80359122
NM_000059.3(BRCA2):c.8649A>G (p.Pro2883=) rs786202069
NM_000059.3(BRCA2):c.8651A>G (p.Tyr2884Cys) rs587781494
NM_000059.3(BRCA2):c.865A>G (p.Asn289Asp) rs766173
NM_000059.3(BRCA2):c.8662C>T (p.Arg2888Cys) rs80359123
NM_000059.3(BRCA2):c.8667A>G (p.Ala2889=) rs786203480
NM_000059.3(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127
NM_000059.3(BRCA2):c.8687G>A (p.Arg2896His) rs80359128
NM_000059.3(BRCA2):c.8694G>A (p.Leu2898=) rs556762256
NM_000059.3(BRCA2):c.8697A>G (p.Gln2899=) rs786203707
NM_000059.3(BRCA2):c.8702G>A (p.Gly2901Asp) rs80359129
NM_000059.3(BRCA2):c.8723T>G (p.Val2908Gly) rs28897753
NM_000059.3(BRCA2):c.8755-12A>G rs863224317
NM_000059.3(BRCA2):c.8755-17A>G rs431825370
NM_000059.3(BRCA2):c.8755-19A>G rs398122713
NM_000059.3(BRCA2):c.8755-79G>A rs81002878
NM_000059.3(BRCA2):c.8755-9T>C rs397507413
NM_000059.3(BRCA2):c.8756G>T (p.Gly2919Val) rs80359131
NM_000059.3(BRCA2):c.8764A>G (p.Ser2922Gly) rs80359132
NM_000059.3(BRCA2):c.8807T>C (p.Leu2936Ser) rs398122714
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.8854A>G (p.Met2952Val) rs397508016
NM_000059.3(BRCA2):c.885A>G (p.Val295=) rs1060502378
NM_000059.3(BRCA2):c.8866G>C (p.Glu2956Gln) rs142040996
NM_000059.3(BRCA2):c.8867A>C (p.Glu2956Ala) rs151174152
NM_000059.3(BRCA2):c.887A>G (p.Tyr296Cys) rs45457795
NM_000059.3(BRCA2):c.8893G>C (p.Asp2965His) rs80359141
NM_000059.3(BRCA2):c.8905G>A (p.Val2969Met) rs59004709
NM_000059.3(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092
NM_000059.3(BRCA2):c.8918G>A (p.Arg2973His) rs80359143
NM_000059.3(BRCA2):c.8952A>G (p.Ser2984=) rs876660709
NM_000059.3(BRCA2):c.8953+16C>T rs81002892
NM_000059.3(BRCA2):c.8954-5_8954-2delAACA rs587782878
NM_000059.3(BRCA2):c.8963G>A (p.Ser2988Asn) rs778052683
NM_000059.3(BRCA2):c.8972G>A (p.Arg2991His) rs80359150
NM_000059.3(BRCA2):c.8979A>C (p.Ser2993=) rs781452016
NM_000059.3(BRCA2):c.898G>A (p.Val300Ile) rs878853616
NM_000059.3(BRCA2):c.8997G>A (p.Leu2999=) rs80359804
NM_000059.3(BRCA2):c.9006A>T (p.Glu3002Asp) rs80359153
NM_000059.3(BRCA2):c.9015A>G (p.Arg3005=) rs1060502477
NM_000059.3(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.905C>T (p.Thr302Ile) rs80359158
NM_000059.3(BRCA2):c.9063A>G (p.Glu3021=) rs786201198
NM_000059.3(BRCA2):c.9085G>A (p.Ala3029Thr) rs56179254
NM_000059.3(BRCA2):c.9087G>A (p.Ala3029=) rs368576266
NM_000059.3(BRCA2):c.909T>G (p.Ser303=) rs757430441
NM_000059.3(BRCA2):c.90T>C (p.Asn30=) rs760655471
NM_000059.3(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.3(BRCA2):c.9106C>G (p.Gln3036Glu) rs202155613
NM_000059.3(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.3(BRCA2):c.9117+16T>G rs780689895
NM_000059.3(BRCA2):c.9117+9C>T rs81002869
NM_000059.3(BRCA2):c.9118-14T>C rs81002815
NM_000059.3(BRCA2):c.9118-18T>C rs1555288527
NM_000059.3(BRCA2):c.9118-6C>T rs81002890
NM_000059.3(BRCA2):c.9119T>C (p.Val3040Ala) rs587781606
NM_000059.3(BRCA2):c.9155G>A (p.Arg3052Gln) rs80359171
NM_000059.3(BRCA2):c.9175A>G (p.Lys3059Glu) rs80359174
NM_000059.3(BRCA2):c.9187C>T (p.Pro3063Ser) rs80359176
NM_000059.3(BRCA2):c.9190G>A (p.Asp3064Asn) rs80359177
NM_000059.3(BRCA2):c.9213G>T (p.Glu3071Asp) rs80359184
NM_000059.3(BRCA2):c.9222A>G (p.Leu3074=) rs200635661
NM_000059.3(BRCA2):c.9234C>T (p.Val3078=) rs587782428
NM_000059.3(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.3(BRCA2):c.9237T>C (p.Val3079=) rs80359805
NM_000059.3(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189
NM_000059.3(BRCA2):c.9253A>C (p.Thr3085Pro) rs397507423
NM_000059.3(BRCA2):c.9256+7C>T rs373697701
NM_000059.3(BRCA2):c.9257-10delT rs276174919
NM_000059.3(BRCA2):c.9257-17dupT rs276174919
NM_000059.3(BRCA2):c.9257-18C>A rs81002807
NM_000059.3(BRCA2):c.9257-75G>C rs276174922
NM_000059.3(BRCA2):c.9257-8C>T rs11571819
NM_000059.3(BRCA2):c.9257G>C (p.Gly3086Ala) rs574271678
NM_000059.3(BRCA2):c.9270C>T (p.Phe3090=) rs587780873
NM_000059.3(BRCA2):c.9271G>A (p.Val3091Ile) rs80359194
NM_000059.3(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195
NM_000059.3(BRCA2):c.927A>G (p.Ser309=) rs80359806
NM_000059.3(BRCA2):c.9285C>T (p.Asp3095=) rs80359198
NM_000059.3(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.3(BRCA2):c.9321A>C (p.Ile3107=) rs876658703
NM_000059.3(BRCA2):c.9353T>C (p.Met3118Thr) rs56204128
NM_000059.3(BRCA2):c.9364G>A (p.Ala3122Thr) rs587782313
NM_000059.3(BRCA2):c.9375C>G (p.Leu3125=) rs276174924
NM_000059.3(BRCA2):c.9396A>G (p.Lys3132=) rs201172050
NM_000059.3(BRCA2):c.9414A>G (p.Leu3138=) rs80359807
NM_000059.3(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476
NM_000059.3(BRCA2):c.9433G>T (p.Val3145Leu) rs587776476
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
NM_000059.3(BRCA2):c.9442G>T (p.Ala3148Ser) rs949790323
NM_000059.3(BRCA2):c.9454G>A (p.Glu3152Lys) rs80359218
NM_000059.3(BRCA2):c.9458G>C (p.Gly3153Ala) rs80359220
NM_000059.3(BRCA2):c.9468A>G (p.Gln3156=) rs753503094
NM_000059.3(BRCA2):c.9472A>G (p.Thr3158Ala) rs786204284
NM_000059.3(BRCA2):c.9477C>A (p.Phe3159Leu) rs80359221
NM_000059.3(BRCA2):c.9493A>G (p.Thr3165Ala) rs587782568
NM_000059.3(BRCA2):c.9496G>A (p.Val3166Ile) rs398122615
NM_000059.3(BRCA2):c.9501+3A>T rs61757642
NM_000059.3(BRCA2):c.9501+4A>G rs81002848
NM_000059.3(BRCA2):c.9501+6G>T rs863224600
NM_000059.3(BRCA2):c.9501+9A>C rs81002867
NM_000059.3(BRCA2):c.9502-12T>G rs81002803
NM_000059.3(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224
NM_000059.3(BRCA2):c.9521A>G (p.Asn3174Ser) rs1555289773
NM_000059.3(BRCA2):c.9531A>G (p.Glu3177=) rs1555289774
NM_000059.3(BRCA2):c.9540T>G (p.Leu3180=) rs1131692141
NM_000059.3(BRCA2):c.9547A>G (p.Ile3183Val) rs377123889
NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.3(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.3(BRCA2):c.9581C>A (p.Pro3194Gln) rs28897760
NM_000059.3(BRCA2):c.9583A>G (p.Thr3195Ala) rs80359227
NM_000059.3(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228
NM_000059.3(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229
NM_000059.3(BRCA2):c.9593G>A (p.Cys3198Tyr) rs587782435
NM_000059.3(BRCA2):c.9605C>T (p.Pro3202Leu) rs397507432
NM_000059.3(BRCA2):c.9606G>A (p.Pro3202=) rs755890067
NM_000059.3(BRCA2):c.9616C>G (p.Gln3206Glu) rs80359233
NM_000059.3(BRCA2):c.9632C>A (p.Thr3211Lys) rs730881583
NM_000059.3(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473
NM_000059.3(BRCA2):c.9637A>G (p.Asn3213Asp) rs80359235
NM_000059.3(BRCA2):c.963A>G (p.Gln321=) rs276174927
NM_000059.3(BRCA2):c.9645T>A (p.Leu3215=) rs755111487
NM_000059.3(BRCA2):c.9646C>T (p.Leu3216=) rs80359809
NM_000059.3(BRCA2):c.9647T>C (p.Leu3216Pro) rs431825377
NM_000059.3(BRCA2):c.9648+106delT rs11571824
NM_000059.3(BRCA2):c.9648+10T>G rs81002835
NM_000059.3(BRCA2):c.9648+54G>A rs11571823
NM_000059.3(BRCA2):c.9648+84G>A rs81002832
NM_000059.3(BRCA2):c.9649-20C>T rs56177715
NM_000059.3(BRCA2):c.9649-6_9649-5insT rs276174929
NM_000059.3(BRCA2):c.9649-8T>C rs81002857
NM_000059.3(BRCA2):c.9649-9T>G rs765352313
NM_000059.3(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000059.3(BRCA2):c.9677A>G (p.Tyr3226Cys) rs80359237
NM_000059.3(BRCA2):c.971G>A (p.Arg324Lys) rs397507435
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.3(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.9738C>A (p.Ala3246=) rs80359811
NM_000059.3(BRCA2):c.9738C>T (p.Ala3246=) rs80359811
NM_000059.3(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9838C>T (p.Pro3280Ser) rs55835607
NM_000059.3(BRCA2):c.9839C>A (p.Pro3280His) rs80359246
NM_000059.3(BRCA2):c.9843A>C (p.Pro3281=) rs11571832
NM_000059.3(BRCA2):c.9843A>G (p.Pro3281=) rs11571832
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.3(BRCA2):c.9905G>A (p.Arg3302Lys) rs80359249
NM_000059.3(BRCA2):c.9918C>A (p.Thr3306=) rs562881210
NM_000059.3(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049
NM_000059.3(BRCA2):c.9925G>A (p.Glu3309Lys) rs80359251
NM_000059.3(BRCA2):c.9934A>G (p.Ile3312Val) rs80359254
NM_000059.3(BRCA2):c.9952A>C (p.Asn3318His) rs80359256
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000059.3(BRCA2):c.9981A>T (p.Lys3327Asn) rs587782098
NM_000059.3(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144
NM_000059.3(BRCA2):c.9990A>C (p.Glu3330Asp) rs1057520433
NM_000059.3(BRCA2):c.9997_9998delCT (p.Leu3333Phefs) rs730881621
NM_000061.2(BTK):c.141+11C>T rs138411530
NM_000062.2(SERPING1):c.5C>T (p.Ala2Val) rs185342631
NM_000063.5(C2):c.*304A>G rs72842444
NM_000063.5(C2):c.1414G>A (p.Ala472Thr) rs142243595
NM_000063.5(C2):c.1450A>G (p.Ile484Val) rs145988012
NM_000063.5(C2):c.1529G>A (p.Arg510His) rs45476300
NM_000063.5(C2):c.2080-8T>C rs201806170
NM_000063.6(C2):c.1360+1G>A rs140225293
NM_000068.3(CACNA1A):c.699A>G (p.Leu233=) rs749587119
NM_000069.2(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.2(CACNA1S):c.1629G>T (p.Thr543=) rs143999390
NM_000069.2(CACNA1S):c.1948+13G>C rs538625530
NM_000069.2(CACNA1S):c.1949-6G>A rs373698107
NM_000069.2(CACNA1S):c.2361-11C>T rs376279583
NM_000069.2(CACNA1S):c.2754G>A (p.Val918=) rs150708636
NM_000069.2(CACNA1S):c.2992G>A (p.Asp998Asn) rs116347156
NM_000069.2(CACNA1S):c.324C>T (p.Tyr108=) rs200487405
NM_000069.2(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094
NM_000069.2(CACNA1S):c.3414+3A>T rs892742196
NM_000069.2(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919
NM_000069.2(CACNA1S):c.369T>C (p.Asn123=) rs148680317
NM_000069.2(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000069.2(CACNA1S):c.4747G>A (p.Glu1583Lys) rs148273582
NM_000069.2(CACNA1S):c.4752G>A (p.Leu1584=) rs763069723
NM_000069.2(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930
NM_000069.2(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958
NM_000069.2(CACNA1S):c.598G>A (p.Ala200Thr) rs527702358
NM_000069.2(CACNA1S):c.743C>T (p.Thr248Met) rs200665694
NM_000069.2(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000070.2(CAPN3):c.1020G>T (p.Gly340=) rs372401631
NM_000070.2(CAPN3):c.1227A>C (p.Thr409=) rs111806046
NM_000070.2(CAPN3):c.1227A>G (p.Thr409=) rs111806046
NM_000070.2(CAPN3):c.1263G>A (p.Leu421=) rs372450879
NM_000070.2(CAPN3):c.1302C>T (p.Asn434=) rs751429914
NM_000070.2(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817
NM_000070.2(CAPN3):c.1584C>T (p.Asn528=) rs530529988
NM_000070.2(CAPN3):c.1668C>T (p.Ile556=) rs199884116
NM_000070.2(CAPN3):c.1746-20C>G rs201892814
NM_000070.2(CAPN3):c.1746-7C>G rs199978708
NM_000070.2(CAPN3):c.1818G>A (p.Ser606=) rs28364528
NM_000070.2(CAPN3):c.1830C>T (p.Asn610=) rs202019404
NM_000070.2(CAPN3):c.183C>T (p.Phe61=) rs146069933
NM_000070.2(CAPN3):c.2071G>A (p.Gly691Arg) rs140425651
NM_000070.2(CAPN3):c.2088C>T (p.Ser696=) rs867628179
NM_000070.2(CAPN3):c.2109C>T (p.Leu703=) rs371577901
NM_000070.2(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.2(CAPN3):c.2264-11C>T rs28364537
NM_000070.2(CAPN3):c.2292C>T (p.Asp764=) rs187279903
NM_000070.2(CAPN3):c.232C>A (p.Pro78Thr) rs138867099
NM_000070.2(CAPN3):c.270C>T (p.Ser90=) rs753686702
NM_000070.2(CAPN3):c.525C>T (p.Asp175=) rs144383442
NM_000070.2(CAPN3):c.552G>A (p.Thr184=) rs147808529
NM_000070.2(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000071.2(CBS):c.*540G>A rs111386779
NM_000071.2(CBS):c.-85+10G>C rs886057102
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1161C>T (p.Ser387=) rs149280976
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.133C>T (p.Arg45Trp) rs201372812
NM_000071.2(CBS):c.209C>T (p.Pro70Leu) rs2229413
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.34C>T (p.Pro12Ser) rs558259739
NM_000071.2(CBS):c.435G>A (p.Pro145=) rs148782895
NM_000071.2(CBS):c.531+11G>A rs186114513
NM_000071.2(CBS):c.667-10_667-7delTTCT rs376011228
NM_000071.2(CBS):c.786G>A (p.Thr262=) rs551782391
NM_000071.2(CBS):c.840G>A (p.Val280=) rs1060500682
NM_000071.2(CBS):c.894G>A (p.Gln298=) rs370514077
NM_000071.2(CBS):c.924C>T (p.Tyr308=) rs149809170
NM_000073.2(CD3G):c.158T>C (p.Ile53Thr) rs142915569
NM_000075.3(CDK4):c.122A>G (p.Asn41Ser) rs144890720
NM_000075.3(CDK4):c.267A>G (p.Val89=) rs886049715
NM_000075.3(CDK4):c.306A>C (p.Thr102=) rs201202764
NM_000075.3(CDK4):c.519C>T (p.Pro173=) rs747084709
NM_000075.3(CDK4):c.523-4T>A rs587780667
NM_000075.3(CDK4):c.625C>T (p.Arg209Cys) rs140644696
NM_000075.3(CDK4):c.632+9C>T rs1192976748
NM_000075.3(CDK4):c.645T>C (p.Cys215=) rs751861614
NM_000075.3(CDK4):c.660C>T (p.Ala220=) rs773490152
NM_000075.3(CDK4):c.661G>A (p.Asp221Asn) rs587778187
NM_000075.3(CDK4):c.684-4A>T rs370609910
NM_000075.3(CDK4):c.764G>A (p.Arg255His) rs144657355
NM_000075.3(CDK4):c.776C>T (p.Ser259Leu) rs201617914
NM_000075.3(CDK4):c.779T>A (p.Val260Glu) rs200215596
NM_000075.4(CDK4):c.481C>T (p.Leu161=) rs796860515
NM_000076.2(CDKN1C):c.444G>A (p.Pro148=) rs878853625
NM_000076.2(CDKN1C):c.612G>A (p.Pro204=) rs794726872
NM_000076.2(CDKN1C):c.624_629dupGGCCCC (p.Pro216_Asp217insAlaPro) rs759134767
NM_000076.2(CDKN1C):c.702C>G (p.Gly234=) rs546016935
NM_000077.4(CDKN2A):c.-14C>T rs764244718
NM_000077.4(CDKN2A):c.-19353G>C rs1014358179
NM_000077.4(CDKN2A):c.-19413C>G rs528789830
NM_000077.4(CDKN2A):c.-34G>A rs1800586
NM_000077.4(CDKN2A):c.-34G>C rs1800586
NM_000077.4(CDKN2A):c.150+37G>C rs45456595
NM_000077.4(CDKN2A):c.150+8G>A rs1419306566
NM_000077.4(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.4(CDKN2A):c.174A>G (p.Arg58=) rs201208890
NM_000077.4(CDKN2A):c.197A>G (p.His66Arg) rs756750256
NM_000077.4(CDKN2A):c.198C>T (p.His66=) rs374984975
NM_000077.4(CDKN2A):c.246G>A (p.Val82=) rs1060504181
NM_000077.4(CDKN2A):c.246G>C (p.Val82=) rs1060504181
NM_000077.4(CDKN2A):c.261G>A (p.Arg87=) rs546300971
NM_000077.4(CDKN2A):c.273G>A (p.Leu91=) rs4987127
NM_000077.4(CDKN2A):c.298G>T (p.Ala100Ser) rs200863613
NM_000077.4(CDKN2A):c.300C>T (p.Ala100=) rs876660818
NM_000077.4(CDKN2A):c.318G>A (p.Val106=) rs199888003
NM_000077.4(CDKN2A):c.320G>A (p.Arg107His) rs370823171
NM_000077.4(CDKN2A):c.342C>G (p.Pro114=) rs878853648
NM_000077.4(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.4(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000077.4(CDKN2A):c.373G>C (p.Asp125His) rs146179135
NM_000077.4(CDKN2A):c.402G>T (p.Ala134=) rs878853649
NM_000077.4(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891
NM_000077.4(CDKN2A):c.441C>A (p.Ala147=) rs1057524065
NM_000077.4(CDKN2A):c.458-4G>C rs876660514
NM_000077.4(CDKN2A):c.87G>A (p.Arg29=) rs540871544
NM_000078.2(CETP):c.940G>A (p.Glu314Lys) rs140547417
NM_000079.3(CHRNA1):c.1002+9G>A rs368959759
NM_000079.3(CHRNA1):c.111C>T (p.Ser37=) rs886055151
NM_000079.3(CHRNA1):c.1139T>C (p.Met380Thr) rs149292107
NM_000079.3(CHRNA1):c.1233G>T (p.Glu411Asp) rs61737716
NM_000079.3(CHRNA1):c.1332C>T (p.Ala444=) rs771587252
NM_000079.3(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857
NM_000079.3(CHRNA1):c.948C>A (p.Ile316=) rs141733086
NM_000080.3(CHRNE):c.*5C>T rs747566295
NM_000080.3(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.3(CHRNE):c.465C>T (p.Phe155=) rs139625105
NM_000080.3(CHRNE):c.723C>T (p.Leu241=) rs886053126
NM_000080.3(CHRNE):c.901G>A (p.Val301Met) rs140023380
NM_000081.3(LYST):c.-5C>T rs141317482
NM_000081.3(LYST):c.10800+4G>T rs41308172
NM_000081.3(LYST):c.10941-7C>A rs72761794
NM_000081.3(LYST):c.2313G>A (p.Gln771=)
NM_000081.3(LYST):c.2363+10dupT
NM_000081.3(LYST):c.2769A>C (p.Ser923=) rs112739986
NM_000081.3(LYST):c.281C>T (p.Thr94Ile) rs777389303
NM_000081.3(LYST):c.3394-14T>C rs372892911
NM_000081.3(LYST):c.368A>G (p.His123Arg)
NM_000081.3(LYST):c.3898A>G (p.Ile1300Val)
NM_000081.3(LYST):c.4566A>C (p.Ala1522=)
NM_000081.3(LYST):c.5461-3dup rs557545474
NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_000081.3(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_000081.3(LYST):c.6710A>C (p.Gln2237Pro) rs138443479
NM_000081.3(LYST):c.6812A>G (p.Asp2271Gly) rs112601869
NM_000081.3(LYST):c.7059+7G>A rs111764031
NM_000081.3(LYST):c.7368T>C (p.Asn2456=) rs199631995
NM_000081.3(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_000081.3(LYST):c.7806A>G (p.Gln2602=)
NM_000082.3(ERCC8):c.839C>A (p.Thr280Lys) rs61754098
NM_000083.2(CLCN1):c.1205C>T (p.Ala402Val) rs202119213
NM_000083.2(CLCN1):c.1392C>T (p.Phe464=) rs201919331
NM_000083.2(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705
NM_000083.2(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115
NM_000083.2(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679
NM_000083.2(CLCN1):c.2364+10G>A rs201855153
NM_000083.2(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334
NM_000083.2(CLCN1):c.2847C>T (p.Gly949=) rs760793323
NM_000083.2(CLCN1):c.314G>A (p.Arg105His) rs756353660
NM_000083.2(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.2(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000088.3(COL1A1):c.*243_*244dupAA rs56302025
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.1233C>T (p.Phe411=) rs776387246
NM_000088.3(COL1A1):c.1768-8C>T rs193922142
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465
NM_000088.3(COL1A1):c.1983+9G>T rs201091992
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2181G>A (p.Gln727=) rs777571745
NM_000088.3(COL1A1):c.2236-17C>G rs193922146
NM_000088.3(COL1A1):c.2508C>T (p.Gly836=) rs200620805
NM_000088.3(COL1A1):c.2595C>T (p.Arg865=) rs117672175
NM_000088.3(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000088.3(COL1A1):c.3045+3G>A rs41316695
NM_000088.3(COL1A1):c.3060C>T (p.Ala1020=) rs751239116
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3258C>T (p.Pro1086=) rs200319927
NM_000088.3(COL1A1):c.3424-6C>A rs370865189
NM_000088.3(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473
NM_000088.3(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.528C>T (p.Ser176=) rs748856187
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.627C>T (p.Gly209=) rs201136122
NM_000089.3(COL1A2):c.1350+11A>T rs193922160
NM_000089.3(COL1A2):c.1866T>C (p.Gly622=) rs765470622
NM_000089.3(COL1A2):c.2025+9A>G rs368837694
NM_000089.3(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163
NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343
NM_000089.3(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907
NM_000089.3(COL1A2):c.2566-6A>G rs141088934
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.2944-4A>T rs143220941
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311
NM_000089.3(COL1A2):c.3632T>C (p.Ile1211Thr) rs201746779
NM_000089.3(COL1A2):c.639+19A>T rs183516726
NM_000089.3(COL1A2):c.81+11delC rs193922174
NM_000089.3(COL1A2):c.81+8A>C rs765118884
NM_000090.3(COL3A1):c.1188C>T (p.Gly396=) rs745743884
NM_000090.3(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.3(COL3A1):c.130G>A (p.Val44Ile) rs79632685
NM_000090.3(COL3A1):c.1348-4delT rs758567906
NM_000090.3(COL3A1):c.1424C>T (p.Ala475Val) rs770168441
NM_000090.3(COL3A1):c.1509+7_1509+21delAACTTTAGTTTCTAT rs781662866
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.1762-11T>G rs761637298
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1864C>T (p.Pro622Ser) rs772638774
NM_000090.3(COL3A1):c.198A>G (p.Ile66Met) rs372269408
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.2242G>A (p.Gly748Ser) rs771585795
NM_000090.3(COL3A1):c.2247A>G (p.Pro749=) rs1553508706
NM_000090.3(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.2489C>T (p.Pro830Leu) rs886038849
NM_000090.3(COL3A1):c.2490G>A (p.Pro830=) rs777361888
NM_000090.3(COL3A1):c.2550T>C (p.Pro850=) rs794727586
NM_000090.3(COL3A1):c.2607T>A (p.Pro869=) rs376643618
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.3019G>A (p.Ala1007Thr) rs201220788
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3390C>T (p.Ile1130=) rs148918486
NM_000090.3(COL3A1):c.3626G>C (p.Gly1209Ala) rs374452484
NM_000090.3(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) rs779774302
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029
NM_000090.3(COL3A1):c.706C>T (p.Pro236Ser) rs771858477
NM_000090.3(COL3A1):c.873C>T (p.Gly291=) rs138569287
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000091.4(COL4A3):c.-13G>C rs770803750
NM_000091.4(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=) rs200454769
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000092.4(COL4A4):c.193-9C>G rs190570269
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.4082-8C>T rs139571413
NM_000092.4(COL4A4):c.4090+14T>C rs147376687
NM_000092.4(COL4A4):c.4185G>A (p.Gly1395=) rs55978207
NM_000092.4(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.736-10T>G rs201175819
NM_000093.4(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.4(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_000093.4(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962
NM_000093.4(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_000093.4(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_000093.4(COL5A1):c.1734C>T (p.Ser578=) rs148094039
NM_000093.4(COL5A1):c.1752G>A (p.Glu584=) rs376865199
NM_000093.4(COL5A1):c.1896C>T (p.Phe632=) rs376478864
NM_000093.4(COL5A1):c.2088C>T (p.Pro696=) rs146757272
NM_000093.4(COL5A1):c.2089-8G>A rs368595229
NM_000093.4(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_000093.4(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171
NM_000093.4(COL5A1):c.2331+15C>T rs369093559
NM_000093.4(COL5A1):c.2398A>G (p.Ile800Val) rs146870918
NM_000093.4(COL5A1):c.2415C>T (p.Gly805=) rs769239532
NM_000093.4(COL5A1):c.2484+6C>T rs576976549
NM_000093.4(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_000093.4(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264
NM_000093.4(COL5A1):c.2588A>T (p.Glu863Val) rs139788610
NM_000093.4(COL5A1):c.2593-3C>T rs199895142
NM_000093.4(COL5A1):c.2991C>T (p.Gly997=) rs766208976
NM_000093.4(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_000093.4(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796
NM_000093.4(COL5A1):c.3204+3G>A rs202054108
NM_000093.4(COL5A1):c.3231A>G (p.Glu1077=) rs376248130
NM_000093.4(COL5A1):c.3303C>A (p.Ile1101=) rs760754491
NM_000093.4(COL5A1):c.3418G>A (p.Val1140Met) rs149616140
NM_000093.4(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_000093.4(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.4(COL5A1):c.3573A>G (p.Pro1191=) rs564398230
NM_000093.4(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_000093.4(COL5A1):c.37C>T (p.Leu13Phe) rs762625123
NM_000093.4(COL5A1):c.3897C>T (p.Gly1299=) rs745918663
NM_000093.4(COL5A1):c.3906+10C>T rs183881247
NM_000093.4(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_000093.4(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179
NM_000093.4(COL5A1):c.431C>T (p.Thr144Met) rs561761305
NM_000093.4(COL5A1):c.4658C>T (p.Pro1553Leu) rs530570306
NM_000093.4(COL5A1):c.4791T>C (p.Asn1597=) rs886063677
NM_000093.4(COL5A1):c.4814C>T (p.Ala1605Val) rs145175057
NM_000093.4(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150
NM_000093.4(COL5A1):c.4910G>A (p.Arg1637His) rs199998065
NM_000093.4(COL5A1):c.514G>A (p.Val172Ile) rs150147262
NM_000093.4(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.4(COL5A1):c.5335A>G (p.Asn1779Asp) rs780400029
NM_000093.4(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.4(COL5A1):c.5439G>T (p.Val1813=) rs886063678
NM_000093.4(COL5A1):c.597C>G (p.Ile199Met) rs147008954
NM_000093.4(COL5A1):c.598G>A (p.Asp200Asn) rs142890619
NM_000093.4(COL5A1):c.787-15G>A rs150200872
NM_000093.4(COL5A1):c.82_84dupCTG (p.Leu28_Trp29insLeu) rs773994971
NM_000093.4(COL5A1):c.850G>A (p.Glu284Lys) rs75648697
NM_000093.4(COL5A1):c.924+13C>T rs199836060
NM_000093.4(COL5A1):c.924+14G>A rs200595318
NM_000093.4(COL5A1):c.934C>G (p.Pro312Ala) rs140105243
NM_000094.3(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883
NM_000094.3(COL7A1):c.6696C>A (p.Pro2232=) rs61729223
NM_000096.3(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000096.3(CP):c.1493A>G (p.Gln498Arg) rs17847018
NM_000096.3(CP):c.2522C>G (p.Thr841Arg) rs56033670
NM_000096.3(CP):c.2571C>T (p.Tyr857=) rs151304828
NM_000096.3(CP):c.2793A>G (p.Leu931=) rs34987997
NM_000097.5(CPOX):c.395C>T (p.Ala132Val) rs147219463
NM_000098.2(CPT2):c.1372A>C (p.Lys458Gln) rs147276580
NM_000098.2(CPT2):c.1422C>A (p.Ala474=) rs192779168
NM_000098.2(CPT2):c.1634A>C (p.Glu545Ala) rs17848485
NM_000098.2(CPT2):c.365C>T (p.Ser122Phe) rs192275019
NM_000098.2(CPT2):c.588T>C (p.Pro196=) rs140853350
NM_000098.2(CPT2):c.932A>G (p.Asn311Ser) rs142790440
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000100.3(CSTB):c.193G>A (p.Val65Ile) rs570768038
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_000101.3(CYBA):c.204-4C>A rs377055239
NM_000101.3(CYBA):c.403G>A (p.Glu135Lys) rs114610092
NM_000101.3(CYBA):c.527_529dupCGG (p.Ala176_Gly177insAla) rs760275837
NM_000104.3(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060
NM_000108.4(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.4(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.4(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000109.3(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000110.3(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000110.3(DPYD):c.2303C>A (p.Thr768Lys) rs56005131
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000115.4(EDNRB):c.1194+15C>T rs886050325
NM_000115.4(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_000116.3(TAZ):c.110-6C>T rs782099193
NM_000116.4(TAZ):c.331C>T (p.His111Tyr) rs200405157
NM_000116.4(TAZ):c.504G>A (p.Lys168=) rs1057515818
NM_000117.2(EMD):c.12C>T (p.Tyr4=) rs782011714
NM_000117.2(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000117.2(EMD):c.171C>T (p.Ser57=) rs900267221
NM_000117.2(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000117.2(EMD):c.400-9C>T rs782061626
NM_000117.2(EMD):c.428C>T (p.Ser143Phe) rs139983160
NM_000117.2(EMD):c.432A>G (p.Glu144=) rs377125466
NM_000117.2(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.2(EMD):c.525C>T (p.Ser175=) rs782367505
NM_000117.2(EMD):c.537G>A (p.Leu179=) rs368661339
NM_000117.2(EMD):c.646G>A (p.Gly216Arg) rs147920229
NM_000117.2(EMD):c.662G>T (p.Arg221Leu) rs782057378
NM_000118.3(ENG):c.1407G>A (p.Pro469=) rs41302657
NM_000118.3(ENG):c.1447G>A (p.Val483Ile) rs141330288
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.1572C>T (p.Pro524=) rs760682477
NM_000118.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669
NM_000118.3(ENG):c.1686+6T>G rs369766351
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.596G>A (p.Arg199His) rs548424658
NM_000118.3(ENG):c.617G>C (p.Gly206Ala) rs201393380
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000119.2(EPB42):c.1122T>C (p.Asp374=) rs150481419
NM_000119.2(EPB42):c.1369C>T (p.Arg457Cys) rs45594632
NM_000119.2(EPB42):c.543T>C (p.Asn181=) rs114136713
NM_000121.3(EPOR):c.1310G>A (p.Arg437His) rs62638744
NM_000121.3(EPOR):c.1460A>G (p.Asn487Ser) rs62638745
NM_000121.3(EPOR):c.1462C>T (p.Pro488Ser) rs142094773
NM_000123.3(ERCC5):c.1110T>A (p.Arg370=) rs150791877
NM_000123.3(ERCC5):c.2778C>G (p.Gly926=) rs9518857
NM_000123.3(ERCC5):c.945C>T (p.His315=) rs34061299
NM_000124.3(ERCC6):c.1062T>C (p.Pro354=) rs764159237
NM_000124.3(ERCC6):c.1274A>C (p.Asp425Ala) rs4253046
NM_000124.3(ERCC6):c.1482C>T (p.Asp494=) rs150762517
NM_000124.3(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975
NM_000124.3(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.3(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653
NM_000124.3(ERCC6):c.2096C>T (p.Thr699Met) rs55698015
NM_000124.3(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191
NM_000124.3(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713
NM_000124.3(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.3(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.3(ERCC6):c.3453A>G (p.Leu1151=) rs771604820
NM_000124.3(ERCC6):c.3480C>G (p.Pro1160=) rs886047034
NM_000124.3(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166
NM_000124.3(ERCC6):c.400C>T (p.Arg134Trp) rs148095899
NM_000124.3(ERCC6):c.4393G>A (p.Val1465Ile) rs201813523
NM_000124.3(ERCC6):c.670C>T (p.Leu224Phe) rs150935953
NM_000126.3(ETFA):c.186+7A>G rs184587113
NM_000126.3(ETFA):c.533C>G (p.Thr178Arg) rs140169311
NM_000126.3(ETFA):c.6C>T (p.Phe2=) rs749929239
NM_000132.3(F8):c.2947G>A (p.Val983Ile) rs35295375
NM_000133.3(F9):c.769G>A (p.Val257Ile) rs200608775
NM_000135.2(FANCA):c.-18G>A rs886038245
NM_000135.2(FANCA):c.1359+10C>T rs34159559
NM_000135.2(FANCA):c.1471-12A>G rs9282684
NM_000135.2(FANCA):c.1830A>G (p.Ala610=) rs1800338
NM_000135.2(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.2(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.2(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.2(FANCA):c.2602-9_2602-8delCT rs577636020
NM_000135.2(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.2(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.2(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.2(FANCA):c.3348+7G>T rs185527578
NM_000135.2(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.2(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.2(FANCA):c.3935-6T>C rs368376237
NM_000135.2(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000135.2(FANCA):c.59G>A (p.Arg20Lys) rs376307136
NM_000135.2(FANCA):c.793-9T>C rs757500718
NM_000135.3(FANCA):c.4302C>T (p.Ala1434=) rs142784426
NM_000135.3(FANCA):c.4332T>G (p.Pro1444=) rs149531696
NM_000136.2(FANCC):c.1073-4G>A rs147695697
NM_000136.2(FANCC):c.1073-5C>T rs375613884
NM_000136.2(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.2(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.2(FANCC):c.1414G>A (p.Gly472Arg) rs201063698
NM_000136.2(FANCC):c.1560C>T (p.His520=) rs150020474
NM_000136.2(FANCC):c.1604G>A (p.Arg535His) rs587779902
NM_000136.2(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.2(FANCC):c.345+6A>T rs368595927
NM_000136.2(FANCC):c.345+8_345+9delAG rs755657969
NM_000136.2(FANCC):c.345G>A (p.Gln115=) rs1031713372
NM_000136.2(FANCC):c.395C>G (p.Ala132Gly) rs587779905
NM_000136.2(FANCC):c.457-7T>C rs749994612
NM_000136.2(FANCC):c.522-4A>G rs371422485
NM_000136.2(FANCC):c.549G>T (p.Leu183=) rs863224611
NM_000136.2(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.2(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.2(FANCC):c.672C>T (p.Asn224=) rs150647141
NM_000136.2(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.2(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_000136.2(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.2(FANCC):c.844-10_844-8delCCT rs758617953
NM_000136.2(FANCC):c.896+6C>T rs199525333
NM_000136.2(FANCC):c.897-8T>C rs878853673
NM_000136.2(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000137.2(FAH):c.-43G>T rs200704926
NM_000137.2(FAH):c.243G>A (p.Ala81=) rs36122289
NM_000137.2(FAH):c.296A>G (p.Asp99Gly) rs547847694
NM_000137.2(FAH):c.553+10C>T rs201051426
NM_000137.2(FAH):c.81+12G>A rs200319726
NM_000137.2(FAH):c.870C>T (p.Asp290=) rs377480457
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) rs146726731
NM_000138.4(FBN1):c.1158C>G (p.Asn386Lys) rs368737502
NM_000138.4(FBN1):c.1278G>A (p.Pro426=) rs113245313
NM_000138.4(FBN1):c.1323A>G (p.Pro441=) rs202030761
NM_000138.4(FBN1):c.1345G>A (p.Val449Ile) rs139058991
NM_000138.4(FBN1):c.1602T>C (p.Cys534=) rs377386372
NM_000138.4(FBN1):c.1821T>C (p.Asp607=) rs149133920
NM_000138.4(FBN1):c.1961-14T>C rs373918202
NM_000138.4(FBN1):c.2093C>T (p.Pro698Leu) rs764827921
NM_000138.4(FBN1):c.2113+19A>T rs541501178
NM_000138.4(FBN1):c.2148A>G (p.Gly716=) rs141039922
NM_000138.4(FBN1):c.2547C>G (p.Ile849Met) rs778258207
NM_000138.4(FBN1):c.2628C>T (p.Cys876=) rs112085967
NM_000138.4(FBN1):c.2678-3C>G rs747274959
NM_000138.4(FBN1):c.2678-3C>T rs747274959
NM_000138.4(FBN1):c.2746G>A (p.Val916Met) rs373644734
NM_000138.4(FBN1):c.2748G>A (p.Val916=) rs1339922695
NM_000138.4(FBN1):c.2854+5A>G rs762989672
NM_000138.4(FBN1):c.2927G>A (p.Arg976His) rs140954477
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) rs138438849
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777
NM_000138.4(FBN1):c.3082+8delG rs193922196
NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640
NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.4(FBN1):c.3423G>A (p.Pro1141=) rs140396599
NM_000138.4(FBN1):c.3464-16_3464-14delCTT rs775944757
NM_000138.4(FBN1):c.3464-6C>T rs375596551
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.3514G>A (p.Val1172Met) rs200125037
NM_000138.4(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812
NM_000138.4(FBN1):c.378A>G (p.Gly126=) rs149611106
NM_000138.4(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837
NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067
NM_000138.4(FBN1):c.4095C>T (p.Asp1365=) rs375402043
NM_000138.4(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368
NM_000138.4(FBN1):c.4306G>A (p.Val1436Met) rs377338217
NM_000138.4(FBN1):c.4413G>A (p.Glu1471=) rs756143911
NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.4(FBN1):c.4443C>T (p.Ser1481=) rs145040593
NM_000138.4(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990
NM_000138.4(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513
NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.4(FBN1):c.5142G>A (p.Met1714Ile) rs368287795
NM_000138.4(FBN1):c.5297-19A>G rs375665466
NM_000138.4(FBN1):c.5340A>C (p.Gly1780=) rs766501385
NM_000138.4(FBN1):c.5358T>C (p.Val1786=) rs1057521207
NM_000138.4(FBN1):c.539-15delA rs193922211
NM_000138.4(FBN1):c.5423-4G>A rs377036485
NM_000138.4(FBN1):c.5724A>G (p.Thr1908=) rs141219664
NM_000138.4(FBN1):c.5917+3A>G rs202158568
NM_000138.4(FBN1):c.5964C>T (p.Thr1988=) rs113022801
NM_000138.4(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_000138.4(FBN1):c.6038-15_6038-14delAT rs752198920
NM_000138.4(FBN1):c.6052G>A (p.Val2018Ile) rs363802
NM_000138.4(FBN1):c.6164-3C>T rs571365493
NM_000138.4(FBN1):c.6189G>A (p.Ala2063=) rs375624881
NM_000138.4(FBN1):c.6288C>T (p.Cys2096=) rs144822241
NM_000138.4(FBN1):c.6302C>T (p.Thr2101Met) rs200816828
NM_000138.4(FBN1):c.6314-15G>A rs200841830
NM_000138.4(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628
NM_000138.4(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.4(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.4(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.4(FBN1):c.6932G>A (p.Arg2311His) rs141868829
NM_000138.4(FBN1):c.6998-40delA rs193922229
NM_000138.4(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) rs149697299
NM_000138.4(FBN1):c.7072G>A (p.Val2358Ile) rs140537304
NM_000138.4(FBN1):c.7201G>T (p.Ala2401Ser) rs771260695
NM_000138.4(FBN1):c.7204+7C>G rs371763964
NM_000138.4(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014
NM_000138.4(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400
NM_000138.4(FBN1):c.7617C>T (p.Gly2539=) rs1388794275
NM_000138.4(FBN1):c.762C>T (p.Pro254=) rs374318726
NM_000138.4(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781
NM_000138.4(FBN1):c.7902C>T (p.Pro2634=) rs138621371
NM_000138.4(FBN1):c.7964C>T (p.Ala2655Val) rs202240409
NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.4(FBN1):c.8202C>T (p.Asn2734=) rs113904256
NM_000138.4(FBN1):c.8311G>A (p.Val2771Ile) rs193922244
NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) rs143007898
NM_000138.4(FBN1):c.8433G>A (p.Gly2811=) rs771873118
NM_000138.4(FBN1):c.8616A>G (p.Ter2872=) rs374499193
NM_000138.4(FBN1):c.863-3C>T rs955955089
NM_000138.4(FBN1):c.902G>T (p.Gly301Val) rs142888621
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000140.3(FECH):c.362A>G (p.Glu121Gly) rs141813907
NM_000142.4(FGFR3):c.1223C>T (p.Ser408Phe) rs761877926
NM_000142.4(FGFR3):c.1879G>A (p.Glu627Lys) rs200849753
NM_000142.4(FGFR3):c.188C>G (p.Pro63Arg) rs371729802
NM_000142.4(FGFR3):c.666C>T (p.Asp222=) rs201081464
NM_000143.3(FH):c.1237-12A>T rs74405673
NM_000143.3(FH):c.1237-7C>T rs376260223
NM_000143.3(FH):c.12A>G (p.Ala4=) rs201277370
NM_000143.3(FH):c.133-3T>C rs1553341989
NM_000143.3(FH):c.1421C>G (p.Thr474Arg) rs369802820
NM_000143.3(FH):c.207C>T (p.Gly69=) rs370392829
NM_000143.3(FH):c.267A>C (p.Pro89=) rs1060500897
NM_000143.3(FH):c.33G>C (p.Ser11=) rs200542051
NM_000143.3(FH):c.50C>T (p.Ala17Val) rs111548093
NM_000143.3(FH):c.521C>G (p.Pro174Arg) rs199822819
NM_000144.4(FXN):c.179G>A (p.Arg60His) rs141858334
NM_000146.3(FTL):c.*8C>T rs373178636
NM_000147.4(FUCA1):c.402G>C (p.Leu134Phe) rs143691289
NM_000151.3(G6PC):c.340+10C>A rs368450665
NM_000151.3(G6PC):c.562+10G>A rs199505156
NM_000151.3(G6PC):c.694G>A (p.Val232Ile) rs145172999
NM_000152.3(GAA):c.1195-15G>A rs373840229
NM_000152.3(GAA):c.1437+8G>A rs779194427
NM_000152.3(GAA):c.1552-13G>A rs111261964
NM_000152.3(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.3(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.3(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.3(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.4(GAA):c.-312C>T rs574326920
NM_000152.4(GAA):c.1075+12T>G rs370842677
NM_000152.4(GAA):c.1075+9T>C rs751918816
NM_000152.4(GAA):c.1083G>A (p.Pro361=) rs781379047
NM_000152.4(GAA):c.1143C>T (p.Thr381=) rs111832449
NM_000152.4(GAA):c.1265G>A (p.Arg422Gln) rs2229224
NM_000152.4(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.4(GAA):c.1416C>T (p.Thr472=) rs368492669
NM_000152.4(GAA):c.1425G>A (p.Pro475=) rs753140491
NM_000152.4(GAA):c.1438-7_1438-5delTGT rs764583466
NM_000152.4(GAA):c.1438-9G>A rs202211401
NM_000152.4(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.4(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.4(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000152.4(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.4(GAA):c.1629C>T (p.Tyr543=) rs372193105
NM_000152.4(GAA):c.1842G>A (p.Thr614=) rs373955374
NM_000152.4(GAA):c.1848C>T (p.Asp616=) rs377175810
NM_000152.4(GAA):c.1884G>C (p.Val628=) rs780130036
NM_000152.4(GAA):c.1888+10_1888+11insC rs748036956
NM_000152.4(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.4(GAA):c.197G>A (p.Arg66Gln) rs200202628
NM_000152.4(GAA):c.2052G>A (p.Pro684=) rs546463058
NM_000152.4(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.4(GAA):c.2132C>G (p.Thr711Arg) rs759292700
NM_000152.4(GAA):c.2151C>T (p.His717=) rs758725073
NM_000152.4(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.4(GAA):c.2157G>A (p.Ala719=) rs201523530
NM_000152.4(GAA):c.216C>T (p.Pro72=) rs753287841
NM_000152.4(GAA):c.2190-4G>A rs759974338
NM_000152.4(GAA):c.2253C>T (p.Leu751=) rs140441758
NM_000152.4(GAA):c.2332-10C>G rs373606162
NM_000152.4(GAA):c.2332-12A>T rs200965268
NM_000152.4(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.4(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.4(GAA):c.2481+16G>A rs41292408
NM_000152.4(GAA):c.249C>T (p.Asp83=) rs377351519
NM_000152.4(GAA):c.2647-6G>A rs201525743
NM_000152.4(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.4(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.4(GAA):c.2739C>G (p.Pro913=) rs370765733
NM_000152.4(GAA):c.2800-11C>G rs374571499
NM_000152.4(GAA):c.2800-9_2800-8delCT rs770227589
NM_000152.4(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.4(GAA):c.510C>T (p.Asp170=) rs564758226
NM_000152.4(GAA):c.546+8G>A rs200107080
NM_000152.4(GAA):c.600C>T (p.Val200=) rs150895924
NM_000152.4(GAA):c.658G>T (p.Val220Leu) rs530478036
NM_000152.4(GAA):c.663C>T (p.Ile221=) rs142878958
NM_000152.4(GAA):c.692+9T>C rs367661167
NM_000152.4(GAA):c.693-4G>T rs200088236
NM_000152.4(GAA):c.711G>A (p.Ala237=) rs368328598
NM_000152.4(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.4(GAA):c.834G>A (p.Leu278=) rs776314424
NM_000152.4(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.4(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.4(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.4(GAA):c.955+14C>A rs756921041
NM_000153.3(GALC):c.1006G>A (p.Val336Met) rs185073540
NM_000153.3(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.3(GALC):c.18C>G (p.Leu6=) rs886038260
NM_000153.3(GALC):c.195+15G>A rs748140458
NM_000153.3(GALC):c.329-10_329-8delCTC rs770389075
NM_000153.3(GALC):c.450A>T (p.Pro150=) rs886050866
NM_000153.3(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000154.1(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000155.3(GALT):c.1059+24G>A rs111033840
NM_000155.3(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.3(GALT):c.564+7G>A rs760189807
NM_000155.3(GALT):c.687+9G>C rs117998880
NM_000156.5(GAMT):c.189G>C (p.Arg63=) rs568392459
NM_000156.5(GAMT):c.314G>A (p.Arg105Gln) rs148838075
NM_000156.5(GAMT):c.328-10C>T rs371511930
NM_000156.5(GAMT):c.379G>A (p.Gly127Ser) rs570476209
NM_000156.5(GAMT):c.396C>A (p.Ile132=) rs200500835
NM_000156.5(GAMT):c.471T>G (p.Phe157Leu) rs372260609
NM_000156.5(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000156.5(GAMT):c.655G>A (p.Asp219Asn) rs753228876
NM_000156.5(GAMT):c.670G>A (p.Ala224Thr) rs141471799
NM_000156.5(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000157.3(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000158.3(GBE1):c.1237-15C>T rs376809475
NM_000158.3(GBE1):c.1521T>C (p.Thr507=) rs372821643
NM_000158.3(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000159.3(GCDH):c.1143C>T (p.Ile381=) rs142553521
NM_000159.3(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000159.3(GCDH):c.471C>T (p.Ser157=) rs146682905
NM_000161.2(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000162.3(GCK):c.1288C>T (p.Leu430=) rs193922276
NM_000162.3(GCK):c.208+11G>A rs77440690
NM_000162.3(GCK):c.46-12C>T rs142829768
NM_000163.4(GHR):c.195A>G (p.Ser65=) rs140501920
NM_000163.4(GHR):c.686G>A (p.Arg229His) rs6177
NM_000166.5(GJB1):c.-27C>T rs879254157
NM_000166.5(GJB1):c.297A>G (p.Gln99=) rs1213746899
NM_000168.5(GLI3):c.1182A>G (p.Pro394=) rs748606221
NM_000168.5(GLI3):c.1207G>A (p.Val403Ile) rs201070431
NM_000168.5(GLI3):c.1485G>A (p.Glu495=) rs149248727
NM_000168.5(GLI3):c.1959G>A (p.Pro653=) rs148226583
NM_000168.5(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000168.5(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000168.5(GLI3):c.2245A>G (p.Ile749Val) rs140048578
NM_000168.5(GLI3):c.3762T>C (p.Tyr1254=) rs148043302
NM_000168.5(GLI3):c.3829C>G (p.Gln1277Glu) rs146582871
NM_000168.5(GLI3):c.3935T>G (p.Met1312Arg) rs199875457
NM_000168.5(GLI3):c.411T>C (p.Ile137=) rs200203051
NM_000169.2(GLA):c.-8C>G rs371291716
NM_000169.2(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.2(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.2(GLA):c.123C>T (p.Thr41=) rs137902198
NM_000169.2(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.2(GLA):c.416A>G (p.Asn139Ser) rs138886989
NM_000169.2(GLA):c.48T>G (p.Leu16=) rs201449986
NM_000169.2(GLA):c.639+6A>C rs200096940
NM_000169.2(GLA):c.714T>C (p.Ser238=) rs397515872
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.945C>T (p.Asp315=) rs151208856
NM_000169.2(GLA):c.991C>T (p.Leu331Phe) rs730880437
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2352C>T (p.Pro784=) rs367781728
NM_000170.2(GLDC):c.2683A>G (p.Met895Val) rs141152043
NM_000170.2(GLDC):c.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000171.3(GLRA1):c.1046G>A (p.Arg349Gln) rs139213838
NM_000171.3(GLRA1):c.1214G>A (p.Arg405Gln) rs199561280
NM_000173.6(GP1BA):c.256C>T (p.Leu86Phe) rs13306411
NM_000178.4(GSS):c.-16G>A rs575728230
NM_000178.4(GSS):c.-46A>G rs886056642
NM_000178.4(GSS):c.768-3C>T rs184506175
NM_000178.4(GSS):c.834+4G>C rs201359061
NM_000179.2(MSH6):c.*10A>G rs757778351
NM_000179.2(MSH6):c.*4_*7dupGACT rs765313977
NM_000179.2(MSH6):c.-16C>A rs1064794403
NM_000179.2(MSH6):c.-18G>T rs199913053
NM_000179.2(MSH6):c.-2G>T rs374748889
NM_000179.2(MSH6):c.-6G>C rs730881822
NM_000179.2(MSH6):c.-7T>A rs1057523142
NM_000179.2(MSH6):c.-8C>T rs565211544
NM_000179.2(MSH6):c.1019T>C (p.Phe340Ser) rs61753793
NM_000179.2(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.2(MSH6):c.1049C>T (p.Ala350Val) rs587782331
NM_000179.2(MSH6):c.1050C>T (p.Ala350=) rs730881802
NM_000179.2(MSH6):c.1054G>A (p.Val352Ile) rs730881787
NM_000179.2(MSH6):c.105C>T (p.Ala35=) rs998365223
NM_000179.2(MSH6):c.1063G>A (p.Gly355Ser) rs587778531
NM_000179.2(MSH6):c.1065T>C (p.Gly355=) rs984907158
NM_000179.2(MSH6):c.1068T>C (p.Gly356=) rs749752524
NM_000179.2(MSH6):c.107C>T (p.Ala36Val) rs61756469
NM_000179.2(MSH6):c.1081C>T (p.Arg361Cys) rs587782651
NM_000179.2(MSH6):c.1132A>C (p.Arg378=) rs781572949
NM_000179.2(MSH6):c.1144C>T (p.His382Tyr) rs587779207
NM_000179.2(MSH6):c.115G>C (p.Gly39Arg) rs751838296
NM_000179.2(MSH6):c.1167C>T (p.Pro389=) rs1042819
NM_000179.2(MSH6):c.1168G>A (p.Asp390Asn) rs147737737
NM_000179.2(MSH6):c.1170T>C (p.Asp390=) rs55882234
NM_000179.2(MSH6):c.1176T>C (p.Asp392=) rs587779912
NM_000179.2(MSH6):c.117G>A (p.Gly39=) rs756673077
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1191T>C (p.Tyr397=) rs786201269
NM_000179.2(MSH6):c.124C>T (p.Pro42Ser) rs34014629
NM_000179.2(MSH6):c.1272C>G (p.Val424=) rs63751452
NM_000179.2(MSH6):c.131C>T (p.Pro44Leu) rs863224615
NM_000179.2(MSH6):c.1364A>C (p.Asn455Thr) rs200938360
NM_000179.2(MSH6):c.1403G>A (p.Arg468His) rs41295268
NM_000179.2(MSH6):c.1474A>G (p.Met492Val) rs61754783
NM_000179.2(MSH6):c.1487G>A (p.Cys496Tyr) rs764593111
NM_000179.2(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.2(MSH6):c.1565A>G (p.Gln522Arg) rs63751009
NM_000179.2(MSH6):c.1569T>G (p.Thr523=) rs587779214
NM_000179.2(MSH6):c.161G>C (p.Gly54Ala) rs63751098
NM_000179.2(MSH6):c.1665A>G (p.Ala555=) rs146785465
NM_000179.2(MSH6):c.1668T>C (p.Tyr556=) rs730882130
NM_000179.2(MSH6):c.1677C>T (p.Cys559=) rs63749893
NM_000179.2(MSH6):c.1696G>A (p.Gly566Arg) rs63749973
NM_000179.2(MSH6):c.1740G>A (p.Ser580=) rs762089407
NM_000179.2(MSH6):c.1746T>G (p.Phe582Leu) rs201518545
NM_000179.2(MSH6):c.1794A>G (p.Lys598=) rs786201210
NM_000179.2(MSH6):c.1822A>G (p.Ile608Val) rs201613780
NM_000179.2(MSH6):c.1844G>C (p.Cys615Ser) rs730881793
NM_000179.2(MSH6):c.1847C>G (p.Ser616Cys) rs772363120
NM_000179.2(MSH6):c.184C>A (p.Arg62Ser) rs876659508
NM_000179.2(MSH6):c.1867C>G (p.Pro623Ala) rs3136334
NM_000179.2(MSH6):c.1870G>A (p.Gly624Ser) rs868760377
NM_000179.2(MSH6):c.1875C>T (p.Ser625=) rs63749886
NM_000179.2(MSH6):c.187T>C (p.Ser63Pro) rs763702846
NM_000179.2(MSH6):c.1932G>C (p.Arg644Ser) rs34938432
NM_000179.2(MSH6):c.1937A>G (p.Lys646Arg) rs201096652
NM_000179.2(MSH6):c.194C>T (p.Ser65Leu) rs41294984
NM_000179.2(MSH6):c.1974G>A (p.Val658=) rs372916347
NM_000179.2(MSH6):c.2006T>C (p.Ile669Thr) rs555209664
NM_000179.2(MSH6):c.2027A>G (p.Lys676Arg) rs143643688
NM_000179.2(MSH6):c.2030G>C (p.Ser677Thr) rs587779224
NM_000179.2(MSH6):c.2141C>G (p.Ser714Cys) rs730881796
NM_000179.2(MSH6):c.2147C>T (p.Thr716Ile) rs587782805
NM_000179.2(MSH6):c.2161A>C (p.Arg721=) rs537604099
NM_000179.2(MSH6):c.2171C>G (p.Ala724Gly) rs587779922
NM_000179.2(MSH6):c.2173A>G (p.Ile725Val) rs148898662
NM_000179.2(MSH6):c.2175C>G (p.Ile725Met) rs63750304
NM_000179.2(MSH6):c.2194C>A (p.Arg732=) rs63751127
NM_000179.2(MSH6):c.2239C>T (p.Leu747=) rs63751305
NM_000179.2(MSH6):c.2241G>C (p.Leu747=) rs377722465
NM_000179.2(MSH6):c.2249C>A (p.Thr750Lys) rs730881817
NM_000179.2(MSH6):c.2271C>T (p.Thr757=) rs142172006
NM_000179.2(MSH6):c.234A>G (p.Arg78=) rs1553408414
NM_000179.2(MSH6):c.2384T>C (p.Ile795Thr) rs202127474
NM_000179.2(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.2(MSH6):c.2400T>C (p.Val800=) rs267608071
NM_000179.2(MSH6):c.240A>G (p.Val80=) rs864622281
NM_000179.2(MSH6):c.2412A>G (p.Lys804=) rs201460265
NM_000179.2(MSH6):c.2413A>G (p.Ile805Val) rs928923556
NM_000179.2(MSH6):c.2418C>T (p.Ser806=) rs770992427
NM_000179.2(MSH6):c.241G>A (p.Ala81Thr) rs587779239
NM_000179.2(MSH6):c.242C>T (p.Ala81Val) rs587779924
NM_000179.2(MSH6):c.2479A>G (p.Asn827Asp) rs878853716
NM_000179.2(MSH6):c.249T>G (p.Ala83=) rs876658308
NM_000179.2(MSH6):c.251C>T (p.Ala84Val) rs878853717
NM_000179.2(MSH6):c.2520C>T (p.Ser840=) rs781241667
NM_000179.2(MSH6):c.255C>A (p.Pro85=) rs587779242
NM_000179.2(MSH6):c.2561A>T (p.Lys854Met) rs34374438
NM_000179.2(MSH6):c.2561_2562delAGinsTT (p.Lys854Ile) rs587780673
NM_000179.2(MSH6):c.2562G>T (p.Lys854Asn) rs759048538
NM_000179.2(MSH6):c.257C>T (p.Thr86Ile) rs768444916
NM_000179.2(MSH6):c.260+4_260+5delGCinsTT rs1064795936
NM_000179.2(MSH6):c.2604G>A (p.Met868Ile) rs749508276
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.2646T>C (p.Phe882=) rs1190330045
NM_000179.2(MSH6):c.2667G>T (p.Gln889His) rs149945495
NM_000179.2(MSH6):c.267C>T (p.Asp89=) rs762818044
NM_000179.2(MSH6):c.2725T>C (p.Leu909=) rs876659785
NM_000179.2(MSH6):c.2765G>A (p.Arg922Gln) rs752839086
NM_000179.2(MSH6):c.2775A>C (p.Gly925=) rs587779248
NM_000179.2(MSH6):c.2780T>C (p.Ile927Thr) rs587779926
NM_000179.2(MSH6):c.2796C>T (p.Gly932=) rs774105284
NM_000179.2(MSH6):c.2857G>A (p.Glu953Lys) rs753034685
NM_000179.2(MSH6):c.2934G>A (p.Gln978=) rs751780309
NM_000179.2(MSH6):c.2958C>T (p.Thr986=) rs757866392
NM_000179.2(MSH6):c.2964C>A (p.Arg988=) rs144288981
NM_000179.2(MSH6):c.2979A>G (p.Glu993=) rs370462886
NM_000179.2(MSH6):c.3015A>G (p.Arg1005=) rs990650403
NM_000179.2(MSH6):c.3024C>T (p.Thr1008=) rs587780675
NM_000179.2(MSH6):c.3029C>T (p.Thr1010Ile) rs768925694
NM_000179.2(MSH6):c.303G>A (p.Glu101=) rs1057521533
NM_000179.2(MSH6):c.3079G>C (p.Val1027Leu) rs876658397
NM_000179.2(MSH6):c.3098T>A (p.Met1033Lys) rs751035257
NM_000179.2(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.2(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075
NM_000179.2(MSH6):c.3173-10C>A rs587780559
NM_000179.2(MSH6):c.3173-10C>T rs587780559
NM_000179.2(MSH6):c.3173-10_3173-6delCTTTT rs781520783
NM_000179.2(MSH6):c.3173-18T>C rs189672273
NM_000179.2(MSH6):c.3198T>C (p.Tyr1066=) rs199643502
NM_000179.2(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849
NM_000179.2(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3259C>A (p.Pro1087Thr) rs63750998
NM_000179.2(MSH6):c.3259C>G (p.Pro1087Ala) rs63750998
NM_000179.2(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.2(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.2(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329
NM_000179.2(MSH6):c.3284G>A (p.Arg1095His) rs63750253
NM_000179.2(MSH6):c.3299C>G (p.Thr1100Arg) rs63750442
NM_000179.2(MSH6):c.3334G>A (p.Asp1112Asn) rs773955368
NM_000179.2(MSH6):c.333C>T (p.Tyr111=) rs786202772
NM_000179.2(MSH6):c.3399T>C (p.Thr1133=) rs61748084
NM_000179.2(MSH6):c.339C>T (p.His113=) rs886056141
NM_000179.2(MSH6):c.33C>G (p.Phe11Leu) rs747802641
NM_000179.2(MSH6):c.3426G>A (p.Thr1142=) rs747771350
NM_000179.2(MSH6):c.3438+11_3438+14delCTTA rs377746844
NM_000179.2(MSH6):c.3438+13dupT rs267608097
NM_000179.2(MSH6):c.3438+17G>C rs759737239
NM_000179.2(MSH6):c.3438+6T>C rs370170322
NM_000179.2(MSH6):c.3439-10T>A rs730881819
NM_000179.2(MSH6):c.3477C>T (p.Tyr1159=) rs398123231
NM_000179.2(MSH6):c.3478G>A (p.Val1160Ile) rs376799914
NM_000179.2(MSH6):c.3488A>T (p.Glu1163Val) rs63750252
NM_000179.2(MSH6):c.3513T>C (p.Asp1171=) rs63749834
NM_000179.2(MSH6):c.3537C>G (p.Ala1179=) rs200120044
NM_000179.2(MSH6):c.3557-2dup rs587779271
NM_000179.2(MSH6):c.3557-3A>T rs41295274
NM_000179.2(MSH6):c.3557-4T>A rs1553332598
NM_000179.2(MSH6):c.3557-4delT rs267608102
NM_000179.2(MSH6):c.3557-7_3557-4delTTTT rs267608102
NM_000179.2(MSH6):c.359T>C (p.Ile120Thr) rs775971872
NM_000179.2(MSH6):c.3605T>C (p.Met1202Thr) rs587779273
NM_000179.2(MSH6):c.3636G>T (p.Val1212=) rs1363247790
NM_000179.2(MSH6):c.363C>T (p.Arg121=) rs587779276
NM_000179.2(MSH6):c.3647-6T>A rs182871847
NM_000179.2(MSH6):c.364G>A (p.Glu122Lys) rs143036974
NM_000179.2(MSH6):c.3675G>A (p.Thr1225=) rs730881820
NM_000179.2(MSH6):c.3705T>C (p.Leu1235=) rs545552712
NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999
NM_000179.2(MSH6):c.3729A>G (p.Thr1243=) rs773807182
NM_000179.2(MSH6):c.3762A>T (p.Glu1254Asp) rs375459388
NM_000179.2(MSH6):c.3786G>A (p.Val1262=) rs760771483
NM_000179.2(MSH6):c.3787C>T (p.Arg1263Cys) rs367912290
NM_000179.2(MSH6):c.3801+17T>C rs3136365
NM_000179.2(MSH6):c.3801+4T>C rs758830540
NM_000179.2(MSH6):c.3801+5G>A rs201080919
NM_000179.2(MSH6):c.3802-6_3802-4delCTT rs587781932
NM_000179.2(MSH6):c.3807C>T (p.Cys1269=) rs747924946
NM_000179.2(MSH6):c.3832C>A (p.Pro1278Thr) rs587782109
NM_000179.2(MSH6):c.3851C>T (p.Thr1284Met) rs63750836
NM_000179.2(MSH6):c.3852G>A (p.Thr1284=) rs2229018
NM_000179.2(MSH6):c.3879T>C (p.Ala1293=) rs752369374
NM_000179.2(MSH6):c.38A>G (p.Lys13Arg) rs41294988
NM_000179.2(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968
NM_000179.2(MSH6):c.3930G>A (p.Glu1310=)
NM_000179.2(MSH6):c.3936T>C (p.Val1312=) rs61753796
NM_000179.2(MSH6):c.3951T>C (p.His1317=) rs764786814
NM_000179.2(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278
NM_000179.2(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809
NM_000179.2(MSH6):c.3988C>T (p.Leu1330=) rs768944975
NM_000179.2(MSH6):c.4001+11_4001+15dupAACTA rs587779302
NM_000179.2(MSH6):c.4001+11_4001+35delAACTATAATGGAATTATAACTAACT rs878853743
NM_000179.2(MSH6):c.4001+2_4001+5delTAAC rs267608132
NM_000179.2(MSH6):c.4001+32_4001+35dup rs267608136
NM_000179.2(MSH6):c.4001+4_4001+8dupACTAA rs587782853
NM_000179.2(MSH6):c.4001+5C>G rs786202305
NM_000179.2(MSH6):c.4002-10T>A rs545466048
NM_000179.2(MSH6):c.4002-10T>G rs545466048
NM_000179.2(MSH6):c.4002-14T>C rs587781041
NM_000179.2(MSH6):c.4002-4T>C rs370428032
NM_000179.2(MSH6):c.4002-8dupA rs267608139
NM_000179.2(MSH6):c.4068_4071dupGATT (p.Lys1358Aspfs) rs55740729
NM_000179.2(MSH6):c.4071_*4dup rs1491544951
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.432C>T (p.Ser144=) rs1046304919
NM_000179.2(MSH6):c.457+7G>C rs781280171
NM_000179.2(MSH6):c.458-17A>G rs554847828
NM_000179.2(MSH6):c.475G>A (p.Ala159Thr) rs1553411396
NM_000179.2(MSH6):c.476C>T (p.Ala159Val) rs587778528
NM_000179.2(MSH6):c.483G>A (p.Lys161=) rs63751030
NM_000179.2(MSH6):c.491A>C (p.His164Pro) rs146469162
NM_000179.2(MSH6):c.498C>T (p.Tyr166=) rs587779313
NM_000179.2(MSH6):c.503C>G (p.Ala168Gly) rs774162322
NM_000179.2(MSH6):c.513A>G (p.Glu171=) rs786201116
NM_000179.2(MSH6):c.532C>T (p.Arg178Cys) rs730881813
NM_000179.2(MSH6):c.59C>T (p.Ala20Val) rs63750664
NM_000179.2(MSH6):c.603G>A (p.Glu201=) rs587779314
NM_000179.2(MSH6):c.615A>G (p.Glu205=) rs1334827373
NM_000179.2(MSH6):c.627+3G>A rs876659495
NM_000179.2(MSH6):c.628-7C>A rs373129248
NM_000179.2(MSH6):c.628-7C>T rs373129248
NM_000179.2(MSH6):c.628-8C>G rs767991179
NM_000179.2(MSH6):c.631G>A (p.Gly211Ser) rs786204153
NM_000179.2(MSH6):c.63C>G (p.Asn21Lys) rs876660097
NM_000179.2(MSH6):c.643G>A (p.Val215Ile) rs145959653
NM_000179.2(MSH6):c.660A>C (p.Glu220Asp) rs1800938
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000179.2(MSH6):c.668A>G (p.Asn223Ser) rs587779316
NM_000179.2(MSH6):c.73G>T (p.Ala25Ser) rs267608026
NM_000179.2(MSH6):c.840T>C (p.Ser280=) rs767974147
NM_000179.2(MSH6):c.866_867delGCinsAA (p.Gly289Glu) rs267608079
NM_000179.2(MSH6):c.869T>C (p.Leu290Pro) rs751309721
NM_000179.2(MSH6):c.884A>G (p.Lys295Arg) rs267608051
NM_000179.2(MSH6):c.905G>A (p.Arg302Lys) rs587781510
NM_000179.2(MSH6):c.926C>G (p.Ser309Cys) rs544222338
NM_000179.2(MSH6):c.93C>T (p.Gly31=) rs370817805
NM_000179.2(MSH6):c.942C>G (p.Ser314Arg) rs150440246
NM_000179.2(MSH6):c.945T>G (p.Ser315=) rs761581941
NM_000179.2(MSH6):c.956C>T (p.Thr319Met) rs188252826
NM_000180.3(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682
NM_000180.3(GUCY2D):c.164C>T (p.Thr55Met) rs201414567
NM_000182.4(HADHA):c.1212G>C (p.Val404=) rs116396996
NM_000182.4(HADHA):c.1690-13G>A rs368557552
NM_000182.4(HADHA):c.1981C>T (p.Leu661=) rs142348718
NM_000182.4(HADHA):c.2175C>T (p.Gly725=) rs375399631
NM_000182.4(HADHA):c.589G>T (p.Ala197Ser) rs116320983
NM_000182.4(HADHA):c.68-10T>G rs144414842
NM_000183.2(HADHB):c.1371G>A (p.Ala457=) rs72851542
NM_000183.2(HADHB):c.246A>G (p.Ala82=) rs151302743
NM_000183.2(HADHB):c.64+11T>C rs57709136
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000191.2(HMGCL):c.498-10C>A rs373505626
NM_000192.3(TBX5):c.1115C>T (p.Ser372Leu) rs143068551
NM_000192.3(TBX5):c.55G>T (p.Ala19Ser) rs200461617
NM_000193.3(SHH):c.1078C>T (p.Leu360=) rs191903572
NM_000193.3(SHH):c.876G>A (p.Gly292=) rs112055654
NM_000195.4(HPS1):c.*12C>T rs112544050
NM_000195.4(HPS1):c.2052C>T (p.Ala684=) rs576260502
NM_000195.4(HPS1):c.557C>T (p.Ala186Val) rs1801286
NM_000202.7(IDS):c.104A>G (p.Asp35Gly) rs144081417
NM_000203.3(IDUA):c.245A>C (p.His82Pro) rs794727239
NM_000203.4(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.4(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.4(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.4(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.4(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688
NM_000208.3(INSR):c.190T>C (p.Leu64=) rs144836032
NM_000208.3(INSR):c.2243C>T (p.Ser748Leu) rs143523271
NM_000208.3(INSR):c.2838C>G (p.Asp946Glu) rs146588336
NM_000208.3(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000208.3(INSR):c.3193C>G (p.Leu1065Val) rs56395521
NM_000208.3(INSR):c.959C>T (p.Thr320Met) rs138528064
NM_000209.3(PDX1):c.-18C>T rs193922351
NM_000209.3(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000209.3(PDX1):c.285G>A (p.Pro95=) rs797045885
NM_000209.3(PDX1):c.543C>T (p.Val181=) rs75498935
NM_000209.3(PDX1):c.725C>T (p.Pro242Leu) rs193922358
NM_000209.3(PDX1):c.726_728dupGCC (p.Pro244_Gly245insPro) rs193922357
NM_000209.3(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000211.4(ITGB2):c.1413-8G>A rs375743879
NM_000211.4(ITGB2):c.1464G>A (p.Arg488=) rs202051683
NM_000211.4(ITGB2):c.2145C>T (p.Ile715=) rs144590448
NM_000214.2(JAG1):c.1043G>A (p.Arg348Lys) rs200227737
NM_000214.2(JAG1):c.1146C>T (p.Asn382=) rs200133928
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) rs140624746
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.2682+8A>G rs560065330
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2917-7G>A rs201573066
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) rs142017684
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344
NM_000215.3(JAK3):c.187A>G (p.Ile63Val) rs144405201
NM_000215.3(JAK3):c.1929G>A (p.Leu643=) rs138645044
NM_000215.3(JAK3):c.2062A>T (p.Ile688Phe) rs35785705
NM_000215.3(JAK3):c.2152G>C (p.Val718Leu) rs146837396
NM_000216.3(ANOS1):c.2015A>G (p.His672Arg) rs199771303
NM_000217.3(KCNA1):c.1464G>A (p.Lys488=) rs147828649
NM_000218.2(KCNQ1):c.-5T>C rs532941548
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1251+13C>T rs201364493
NM_000218.2(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.2(KCNQ1):c.1514+3G>A rs374767819
NM_000218.2(KCNQ1):c.1514+9C>T rs770840921
NM_000218.2(KCNQ1):c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro) rs397515877
NM_000218.2(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379
NM_000218.2(KCNQ1):c.1799C>T (p.Thr600Met) rs34516117
NM_000218.2(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322
NM_000218.2(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.2(KCNQ1):c.1902C>T (p.Gly634=) rs774046442
NM_000218.2(KCNQ1):c.328G>A (p.Val110Ile) rs199472677
NM_000218.2(KCNQ1):c.387-7C>T rs201682200
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.2(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632
NM_000218.2(KCNQ1):c.642C>T (p.Cys214=) rs775479779
NM_000218.2(KCNQ1):c.648C>A (p.Gly216=) rs146350010
NM_000218.2(KCNQ1):c.759C>T (p.Ser253=) rs752457145
NM_000218.2(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_000218.2(KCNQ1):c.879C>A (p.Arg293=) rs181106858
NM_000219.3(KCNE1):c.206A>G (p.Lys69Arg) rs149338401
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.5(KCNE1):c.29C>T (p.Thr10Met) rs144917638
NM_000219.5(KCNE1):c.374C>T (p.Thr125Met) rs142511345
NM_000219.5(KCNE1):c.54G>A (p.Gln18=) rs149875299
NM_000220.4(KCNJ1):c.562C>T (p.Arg188Cys) rs138120505
NM_000222.2(KIT):c.-14T>A rs140909964
NM_000222.2(KIT):c.1195G>A (p.Val399Ile) rs143707288
NM_000222.2(KIT):c.1232-6C>G rs1553890995
NM_000222.2(KIT):c.1694G>T (p.Gly565Val) rs200945282
NM_000222.2(KIT):c.2670C>T (p.Leu890=) rs745967881
NM_000222.2(KIT):c.2802+9A>G rs369450271
NM_000222.2(KIT):c.532G>A (p.Ala178Thr) rs115585711
NM_000222.2(KIT):c.910A>G (p.Thr304Ala) rs202052259
NM_000222.2(KIT):c.952A>G (p.Met318Val) rs143388949
NM_000227.4(LAMA3):c.2970C>T (p.Asp990=) rs61751706
NM_000231.2(SGCG):c.-6T>C rs141771521
NM_000231.2(SGCG):c.1-8C>T rs745599370
NM_000231.2(SGCG):c.102C>T (p.Arg34=) rs140810408
NM_000231.2(SGCG):c.267A>G (p.Pro89=) rs149595403
NM_000231.2(SGCG):c.414A>G (p.Gln138=) rs770596449
NM_000231.2(SGCG):c.506-7T>G rs774582375
NM_000231.2(SGCG):c.507G>T (p.Gly169=) rs199905729
NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) rs147820869
NM_000232.4(SGCB):c.768C>T (p.Ile256=) rs149121189
NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) rs200761715
NM_000232.4(SGCB):c.943G>A (p.Gly315Arg) rs150395645
NM_000232.4(SGCB):c.9_14dupAGCGGC (p.Ala9_Glu10insAlaAla) rs886044103
NM_000233.3(LHCGR):c.1360G>A (p.Val454Ile) rs114320052
NM_000233.3(LHCGR):c.458+3A>G rs76210637
NM_000235.3(LIPA):c.1009A>G (p.Thr337Ala) rs143793106
NM_000235.3(LIPA):c.1113A>G (p.Glu371=) rs116827211
NM_000235.3(LIPA):c.539-6T>C rs201898154
NM_000235.3(LIPA):c.754A>T (p.Ile252Leu) rs147493628
NM_000238.3(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.3(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.3(KCNH2):c.1341C>T (p.Tyr447=) rs367570298
NM_000238.3(KCNH2):c.1342G>T (p.Ala448Ser) rs767723985
NM_000238.3(KCNH2):c.1471G>A (p.Val491Ile) rs374376640
NM_000238.3(KCNH2):c.1500C>A (p.Ile500=) rs147126965
NM_000238.3(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.3(KCNH2):c.1641G>A (p.Ala547=) rs149902084
NM_000238.3(KCNH2):c.2127C>T (p.Asn709=) rs768572372
NM_000238.3(KCNH2):c.2145+9A>T rs371749379
NM_000238.3(KCNH2):c.2331C>T (p.Thr777=) rs41307292
NM_000238.3(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207
NM_000238.3(KCNH2):c.2376C>T (p.Gly792=) rs745993706
NM_000238.3(KCNH2):c.2382C>T (p.Val794=) rs777801910
NM_000238.3(KCNH2):c.2398+105delC rs546898924
NM_000238.3(KCNH2):c.2398+156G>A rs139247073
NM_000238.3(KCNH2):c.2454G>A (p.Ser818=) rs72549418
NM_000238.3(KCNH2):c.2665T>G (p.Leu889Val) rs765427343
NM_000238.3(KCNH2):c.2674C>T (p.Arg892Cys) rs201627778
NM_000238.3(KCNH2):c.2692+8G>A rs200032281
NM_000238.3(KCNH2):c.2730G>A (p.Pro910=) rs916754925
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733
NM_000238.3(KCNH2):c.2900C>T (p.Pro967Leu) rs199473016
NM_000238.3(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554
NM_000238.3(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375
NM_000238.3(KCNH2):c.3108C>T (p.Gly1036=) rs373414022
NM_000238.3(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270
NM_000238.3(KCNH2):c.3203A>G (p.Gln1068Arg) rs151031345
NM_000238.3(KCNH2):c.3321G>A (p.Ser1107=) rs189457419
NM_000238.3(KCNH2):c.3436A>T (p.Thr1146Ser) rs778879572
NM_000238.3(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_000238.3(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000238.3(KCNH2):c.473-7C>T rs146570628
NM_000238.3(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_000238.3(KCNH2):c.524C>A (p.Ala175Asp) rs776541110
NM_000238.3(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000238.3(KCNH2):c.560_568delGCGCGGGCG (p.Gly187_Gly189del) rs551056698
NM_000238.3(KCNH2):c.77-5C>G rs72549419
NM_000238.3(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
NM_000240.3(MAOA):c.825G>A (p.Pro275=) rs138703731
NM_000243.2(MEFV):c.-15C>G rs11466015
NM_000243.2(MEFV):c.1043G>A (p.Arg348His) rs104895198
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.124C>T (p.Arg42Trp) rs61754767
NM_000243.2(MEFV):c.1261-11T>G rs77086855
NM_000243.2(MEFV):c.1518C>T (p.Ile506=) rs104895099
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1803T>A (p.Ile601=) rs779572391
NM_000243.2(MEFV):c.195C>T (p.Tyr65=) rs104895077
NM_000243.2(MEFV):c.198C>T (p.Ala66=) rs149380763
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.329T>C (p.Leu110Pro) rs11466018
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.2(MEFV):c.657C>T (p.Gly219=) rs104895182
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.932C>T (p.Ala311Val) rs74346519
NM_000244.3(MEN1):c.526C>T (p.Arg176Trp) rs143329068
NM_000244.3(MEN1):c.669+18C>T rs180737290
NM_000245.3(MET):c.110T>C (p.Val37Ala) rs201315884
NM_000245.3(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000245.3(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000245.3(MET):c.3356G>C (p.Gly1119Ala) rs201037977
NM_000245.3(MET):c.607T>A (p.Ser203Thr) rs200861145
NM_000245.3(MET):c.71G>A (p.Gly24Glu) rs180985111
NM_000245.3(MET):c.948A>G (p.Ile316Met) rs35225896
NM_000245.3(MET):c.967A>G (p.Ser323Gly) rs201467281
NM_000248.3(MITF):c.861A>G (p.Glu287=) rs137904015
NM_000248.3(MITF):c.959T>C (p.Val320Ala) rs2055006
NM_000249.3(MLH1):c.*3A>G rs587778880
NM_000249.3(MLH1):c.-117G>T rs565891017
NM_000249.3(MLH1):c.-14C>T rs730881744
NM_000249.3(MLH1):c.-28A>G rs56198082
NM_000249.3(MLH1):c.-8G>T rs761672073
NM_000249.3(MLH1):c.-93G>A rs1800734
NM_000249.3(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.3(MLH1):c.1038+8C>T rs751872237
NM_000249.3(MLH1):c.1039-4A>G rs368618417
NM_000249.3(MLH1):c.1039-5T>C rs587782626
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.1040C>A (p.Thr347Asn) rs201541505
NM_000249.3(MLH1):c.1103C>T (p.Ser368Leu) rs201673334
NM_000249.3(MLH1):c.1104G>A (p.Ser368=) rs769364808
NM_000249.3(MLH1):c.1136A>C (p.Tyr379Ser) rs143009528
NM_000249.3(MLH1):c.1136A>G (p.Tyr379Cys) rs143009528
NM_000249.3(MLH1):c.116+8G>A rs904872305
NM_000249.3(MLH1):c.1164C>T (p.Ser388=) rs1060504014
NM_000249.3(MLH1):c.1166G>A (p.Arg389Gln) rs63750361
NM_000249.3(MLH1):c.117-10G>A rs576724240
NM_000249.3(MLH1):c.1207C>T (p.Pro403Ser) rs587778897
NM_000249.3(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.3(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.3(MLH1):c.1268G>A (p.Arg423Lys) rs370687064
NM_000249.3(MLH1):c.1269G>A (p.Arg423=) rs373076967
NM_000249.3(MLH1):c.1270G>A (p.Ala424Thr) rs377433038
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1327A>C (p.Lys443Gln) rs34213726
NM_000249.3(MLH1):c.1359G>C (p.Lys453Asn) rs756099600
NM_000249.3(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.3(MLH1):c.1379A>C (p.Glu460Ala) rs202038499
NM_000249.3(MLH1):c.1392T>C (p.Pro464=) rs63750201
NM_000249.3(MLH1):c.1401C>T (p.Ser467=) rs587778910
NM_000249.3(MLH1):c.1410-4G>T rs1057520517
NM_000249.3(MLH1):c.1410-8C>T rs1057521668
NM_000249.3(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.3(MLH1):c.1421G>A (p.Arg474Gln) rs63751083
NM_000249.3(MLH1):c.1452T>C (p.Asp484=) rs587778916
NM_000249.3(MLH1):c.1460G>A (p.Arg487Gln) rs587778917
NM_000249.3(MLH1):c.1474G>A (p.Ala492Thr) rs63751145
NM_000249.3(MLH1):c.1512T>C (p.Thr504=) rs749683911
NM_000249.3(MLH1):c.1558+11G>A rs267607833
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1558+4C>T rs531873434
NM_000249.3(MLH1):c.1558+5G>A rs199935667
NM_000249.3(MLH1):c.1558+6T>C rs730881749
NM_000249.3(MLH1):c.1559-11T>C rs730881750
NM_000249.3(MLH1):c.1565G>A (p.Arg522Gln) rs63751630
NM_000249.3(MLH1):c.1569G>T (p.Glu523Asp) rs63751680
NM_000249.3(MLH1):c.1618T>C (p.Leu540=) rs1448439825
NM_000249.3(MLH1):c.1665T>C (p.Leu555=) rs749204990
NM_000249.3(MLH1):c.1698T>C (p.Tyr566=) rs876658915
NM_000249.3(MLH1):c.1731+11A>T rs886058384
NM_000249.3(MLH1):c.1731+8T>C rs370108219
NM_000249.3(MLH1):c.1732-5C>T rs587778941
NM_000249.3(MLH1):c.1733A>G (p.Glu578Gly) rs63751612
NM_000249.3(MLH1):c.1742C>T (p.Pro581Leu) rs63751684
NM_000249.3(MLH1):c.1743G>C (p.Pro581=) rs567838745
NM_000249.3(MLH1):c.1808C>G (p.Pro603Arg) rs63750876
NM_000249.3(MLH1):c.1818A>T (p.Gly606=) rs1057522427
NM_000249.3(MLH1):c.1820T>A (p.Leu607His) rs41295284
NM_000249.3(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.3(MLH1):c.1852_1853delAAinsGC (p.Lys618Ala) rs35502531
NM_000249.3(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.3(MLH1):c.1878C>T (p.Phe626=) rs63751214
NM_000249.3(MLH1):c.1896+17T>C rs193922368
NM_000249.3(MLH1):c.1897-17C>G rs2308316
NM_000249.3(MLH1):c.1908G>A (p.Leu636=) rs1800145
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.1964T>C (p.Ile655Thr) rs63751225
NM_000249.3(MLH1):c.1976G>A (p.Arg659Gln) rs63749900
NM_000249.3(MLH1):c.1990-6G>A rs117221851
NM_000249.3(MLH1):c.2001C>T (p.Asp667=) rs63750014
NM_000249.3(MLH1):c.2034A>G (p.Lys678=) rs894876691
NM_000249.3(MLH1):c.2040C>T (p.Cys680=) rs63749867
NM_000249.3(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.3(MLH1):c.2070C>T (p.Tyr690=) rs550890395
NM_000249.3(MLH1):c.2071A>G (p.Ile691Val) rs201748079
NM_000249.3(MLH1):c.2094A>G (p.Ser698=) rs786202433
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000249.3(MLH1):c.2103+6G>T rs1057521607
NM_000249.3(MLH1):c.2104-11G>A rs147984696
NM_000249.3(MLH1):c.2104-22T>G rs267607890
NM_000249.3(MLH1):c.2107G>A (p.Glu703Lys) rs747727493
NM_000249.3(MLH1):c.2146G>A (p.Val716Met) rs35831931
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243