ClinVar Miner

List of variants reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8306
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 10q25.1(chr10:107722094-109081424)x3
GRCh37/hg19 12q23.1(chr12:100367541-100489446)x1
GRCh37/hg19 13q14.11(chr13:43505151-43762719)x3
GRCh37/hg19 13q31.3(chr13:93377562-93606814)x1
GRCh37/hg19 13q32.3-33.1(chr13:101605129-101748121)x1
GRCh37/hg19 15q25.2-25.3(chr15:84931022-85728834)x1
GRCh37/hg19 17p13.3(chr17:1007540-1254875)x3
GRCh37/hg19 17q25.3(chr17:80881583-81060040)x3
GRCh37/hg19 1q44(chr1:245900039-246475061)x1
GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3
GRCh37/hg19 4q13.3(chr4:75720151-75883784)x1
GRCh37/hg19 5q22.1(chr5:111241351-111390356)x1
GRCh37/hg19 7p21.2(chr7:15424383-15534832)x3
GRCh37/hg19 7q35(chr7:147516080-147803861)x1
GRCh37/hg19 9q22.32(chr9:97290466-97419146)x1
NC_000007.14:g.140924603G>A
NM_000029.3(AGT):c.-190G>A rs11568020
NM_000029.3(AGT):c.-58A>C rs5050
NM_000029.4(AGT):c.620C>T (p.Thr207Met) rs4762
NM_000030.2(AGXT):c.-46G>A rs73106672
NM_000030.3(AGXT):c.-23G>A rs116057889
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.358+13C>T rs34995778
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773
NM_000030.3(AGXT):c.777-17C>A rs112319664
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000030.3(AGXT):c.942+14T>G rs886055843
NM_000031.6(ALAD):c.*1811_*1812del rs142213018
NM_000031.6(ALAD):c.*613G>A rs818707
NM_000031.6(ALAD):c.*871C>A rs8177822
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435
NM_000031.6(ALAD):c.397+12C>T rs8177805
NM_000031.6(ALAD):c.414C>T (p.Asn138=) rs2228083
NM_000031.6(ALAD):c.463T>C (p.Leu155=) rs8177807
NM_000033.4(ABCD1):c.*123C>T rs186542134
NM_000033.4(ABCD1):c.*473C>T rs782343473
NM_000033.4(ABCD1):c.*564G>A rs782819878
NM_000033.4(ABCD1):c.*668C>T rs187420166
NM_000033.4(ABCD1):c.*985C>G rs782309410
NM_000033.4(ABCD1):c.-202C>G rs781978041
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=) rs138233092
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976
NM_000033.4(ABCD1):c.1404G>A (p.Val468=) rs782072629
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.4(ABCD1):c.1467G>A (p.Val489=) rs782516659
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.901-10C>T rs2269365
NM_000035.4(ALDOB):c.*1003A>G rs80292759
NM_000035.4(ALDOB):c.*122G>A rs41310087
NM_000035.4(ALDOB):c.*206C>A rs17772869
NM_000035.4(ALDOB):c.*505C>A rs17772845
NM_000035.4(ALDOB):c.*552T>A rs41308902
NM_000035.4(ALDOB):c.*612A>G rs41296049
NM_000035.4(ALDOB):c.*897G>A rs17772839
NM_000035.4(ALDOB):c.324+8C>G rs118168553
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.799+11C>T rs182245025
NM_000039.2(APOA1):c.*19C>G rs187335584
NM_000039.2(APOA1):c.-11G>A rs199729971
NM_000039.2(APOA1):c.181G>A (p.Ala61Thr) rs12718465
NM_000039.2(APOA1):c.284T>A (p.Phe95Tyr) rs138407155
NM_000039.2(APOA1):c.454G>A (p.Glu152Lys) rs574061789
NM_000039.2(APOA1):c.732C>G (p.Pro244=) rs5080
NM_000053.3(ATP7B):c.-127_-126ins5 rs1555304648
NM_000053.4(ATP7B):c.*1172G>A rs1051332
NM_000053.4(ATP7B):c.*1182C>T rs79490882
NM_000053.4(ATP7B):c.*1708A>G rs17076111
NM_000053.4(ATP7B):c.*1717G>T rs77770386
NM_000053.4(ATP7B):c.*190C>A rs115420019
NM_000053.4(ATP7B):c.1185C>T (p.Ala395=) rs764551529
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.4(ATP7B):c.1362A>G (p.Thr454=) rs150018860
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) rs139289704
NM_000053.4(ATP7B):c.1461G>A (p.Pro487=) rs372068316
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser) rs778475094
NM_000053.4(ATP7B):c.1911C>T (p.Asn637=) rs770640457
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys) rs115227204
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.4(ATP7B):c.2355+13T>G rs139211339
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.4(ATP7B):c.2866-13G>C rs7325983
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=) rs1801246
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247
NM_000053.4(ATP7B):c.3042C>T (p.Pro1014=) rs1438628867
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248
NM_000053.4(ATP7B):c.3054G>A (p.Ala1018=) rs193922105
NM_000053.4(ATP7B):c.3060+16G>T rs76163470
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179
NM_000053.4(ATP7B):c.3211T>C (p.Leu1071=) rs748003525
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=) rs193922106
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.4021+3A>G rs565970531
NM_000053.4(ATP7B):c.4124+8C>T rs1459365269
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000053.4(ATP7B):c.4395C>A (p.Ile1465=) rs199859839
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680
NM_000054.6(AVPR2):c.*129C>T rs782022257
NM_000054.6(AVPR2):c.*204C>T rs184401408
NM_000054.6(AVPR2):c.*282G>A rs782404692
NM_000054.6(AVPR2):c.1055G>A (p.Gly352Asp) rs146350208
NM_000054.6(AVPR2):c.12G>A (p.Ala4=) rs61748993
NM_000054.6(AVPR2):c.174G>A (p.Val58=) rs201810684
NM_000054.6(AVPR2):c.189T>C (p.Ala63=) rs140156037
NM_000054.6(AVPR2):c.643G>A (p.Val215Met) rs112109182
NM_000054.6(AVPR2):c.754C>T (p.Arg252Trp) rs61733407
NM_000059.3(BRCA2):c.*172G>A rs574944914
NM_000059.3(BRCA2):c.*248T>C rs542356535
NM_000059.3(BRCA2):c.*295C>G rs11571834
NM_000059.3(BRCA2):c.*382A>G rs559790882
NM_000059.3(BRCA2):c.*390A>G rs56003538
NM_000059.3(BRCA2):c.*397C>A rs11571835
NM_000059.3(BRCA2):c.*753C>T rs190094748
NM_000059.3(BRCA2):c.*839T>C rs76358429
NM_000059.3(BRCA2):c.*841A>G rs186619625
NM_000059.3(BRCA2):c.*842A>G rs192347116
NM_000059.3(BRCA2):c.*854T>C rs572993583
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-175C>T rs55880202
NM_000059.3(BRCA2):c.-59_-57delGAA rs545321666
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
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.1798T>C (p.Tyr600His) rs75419644
NM_000059.3(BRCA2):c.1909+9_1909+10delGT rs527732001
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.198A>G (p.Gln66=) rs28897700
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.3(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.3(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943
NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
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.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
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.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833
NM_000059.3(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
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.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.3(BRCA2):c.6921A>G (p.Ser2307=) rs181183366
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.9106C>G (p.Gln3036Glu) rs202155613
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000063.6(C2):c.*304A>G rs72842444
NM_000063.6(C2):c.1360+1G>A rs140225293
NM_000063.6(C2):c.1414G>A (p.Ala472Thr) rs142243595
NM_000063.6(C2):c.1450A>G (p.Ile484Val) rs145988012
NM_000063.6(C2):c.1529G>A (p.Arg510His) rs45476300
NM_000063.6(C2):c.1778G>A (p.Arg593Gln) rs150878060
NM_000063.6(C2):c.1835G>A (p.Ser612Asn) rs573509224
NM_000063.6(C2):c.1922T>C (p.Val641Ala) rs36221133
NM_000063.6(C2):c.2046A>G (p.Ala682=) rs45507391
NM_000063.6(C2):c.2080-8T>C rs201806170
NM_000064.4(C3):c.-28C>G rs339394
NM_000064.4(C3):c.-3_-2dup rs528697923
NM_000064.4(C3):c.1042A>G (p.Ile348Val) rs141737564
NM_000064.4(C3):c.1119+14C>T rs374368486
NM_000064.4(C3):c.1119+15G>A rs114252882
NM_000064.4(C3):c.1303G>A (p.Glu435Lys) rs774826179
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422
NM_000064.4(C3):c.1623C>T (p.Ser541=) rs202078483
NM_000064.4(C3):c.1653G>T (p.Val551=) rs344534
NM_000064.4(C3):c.1855G>A (p.Val619Met) rs146613648
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231
NM_000064.4(C3):c.1898A>G (p.Lys633Arg) rs140655115
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257
NM_000064.4(C3):c.2184C>T (p.Cys728=) rs200258941
NM_000064.4(C3):c.2203C>T (p.Arg735Trp) rs117793540
NM_000064.4(C3):c.2245+15G>A rs11569434
NM_000064.4(C3):c.2394C>T (p.Ser798=) rs112178657
NM_000064.4(C3):c.2799G>A (p.Pro933=) rs149209011
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609
NM_000064.4(C3):c.3216G>T (p.Arg1072=) rs137880434
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534
NM_000064.4(C3):c.3993A>G (p.Thr1331=) rs202210310
NM_000064.4(C3):c.4030-4C>T rs372612816
NM_000064.4(C3):c.4457-5C>T rs344554
NM_000064.4(C3):c.4631-9C>T rs116302413
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000064.4(C3):c.4767G>A (p.Lys1589=) rs144589541
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210
NM_000064.4(C3):c.588G>A (p.Pro196=) rs150007726
NM_000064.4(C3):c.600-14C>T rs3745558
NM_000064.4(C3):c.741C>T (p.Asn247=) rs11569571
NM_000064.4(C3):c.774-4G>A rs368095422
NM_000064.4(C3):c.783C>T (p.Tyr261=) rs2230200
NM_000067.3(CA2):c.*212A>G rs73263450
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063
NM_000076.2(CDKN1C):c.123G>A (p.Glu41=) rs1468271941
NM_000076.2(CDKN1C):c.12G>C (p.Ala4=) rs1220484886
NM_000076.2(CDKN1C):c.141G>A (p.Gln47=) rs1060503856
NM_000076.2(CDKN1C):c.15C>T (p.Ser5=) rs878853624
NM_000076.2(CDKN1C):c.171C>T (p.Asp57=) rs777465972
NM_000076.2(CDKN1C):c.204C>T (p.Asp68=) rs1554938190
NM_000076.2(CDKN1C):c.246G>A (p.Val82=) rs141005361
NM_000076.2(CDKN1C):c.258G>C (p.Ser86=) rs1015104953
NM_000076.2(CDKN1C):c.324C>T (p.Pro108=) rs534471786
NM_000076.2(CDKN1C):c.336G>C (p.Ala112=) rs931922290
NM_000076.2(CDKN1C):c.336G>T (p.Ala112=) rs931922290
NM_000076.2(CDKN1C):c.33G>T (p.Thr11=) rs780549417
NM_000076.2(CDKN1C):c.357C>T (p.Leu119=) rs1060503864
NM_000076.2(CDKN1C):c.387C>T (p.Leu129=) rs1426804435
NM_000076.2(CDKN1C):c.438C>G (p.Ser146=) rs1554938064
NM_000076.2(CDKN1C):c.444G>A (p.Pro148=) rs878853625
NM_000076.2(CDKN1C):c.450A>T (p.Pro150=) rs1486402339
NM_000076.2(CDKN1C):c.456G>A (p.Pro152=) rs878853626
NM_000076.2(CDKN1C):c.483T>A (p.Ala161=) rs898729531
NM_000076.2(CDKN1C):c.488_499CTCCGGTCGCGG[1] (p.163_166APVA[1]) rs565544512
NM_000076.2(CDKN1C):c.488_499CTCCGGTCGCGG[4] (p.163_166APVA[4]) rs565544512
NM_000076.2(CDKN1C):c.488_499CTCCGGTCGCGG[5] (p.163_166APVA[5]) rs565544512
NM_000076.2(CDKN1C):c.488_505del (p.Ala163_Pro168del) rs1554937999
NM_000076.2(CDKN1C):c.494_499del (p.Val165_Ala166del) rs878853627
NM_000076.2(CDKN1C):c.512_517del (p.Ala171_Pro172del) rs1324090653
NM_000076.2(CDKN1C):c.512_529del (p.Ala171_Ala176del) rs1064792992
NM_000076.2(CDKN1C):c.520_525GCGGTC[1] (p.174_175AV[1]) rs889984547
NM_000076.2(CDKN1C):c.520_525GCGGTC[3] (p.174_175AV[3]) rs889984547
NM_000076.2(CDKN1C):c.525C>G (p.Val175=) rs878853628
NM_000076.2(CDKN1C):c.526_527delinsCT (p.Ala176Leu) rs1554937984
NM_000076.2(CDKN1C):c.528G>C (p.Ala176=) rs533485167
NM_000076.2(CDKN1C):c.537_542CCCGGC[1] (p.179_180AP[6]) rs878853629
NM_000076.2(CDKN1C):c.537_542CCCGGC[4] (p.179_180AP[9]) rs878853629
NM_000076.2(CDKN1C):c.537_554del (p.179_180AP[5]) rs878853629
NM_000076.2(CDKN1C):c.543_560del (p.179_180AP[5]) rs1064792991
NM_000076.2(CDKN1C):c.543_566del (p.179_180AP[4]) rs1486933065
NM_000076.2(CDKN1C):c.549_560del (p.179_180AP[6]) rs1249284743
NM_000076.2(CDKN1C):c.555_560TCCGGC[4] (p.179_180AP[9]) rs878853632
NM_000076.2(CDKN1C):c.558_581del (p.179_180AP[4]) rs878853630
NM_000076.2(CDKN1C):c.558_581dup (p.179_180AP[12]) rs878853630
NM_000076.2(CDKN1C):c.560_561insCCCGGC (p.179_180AP[9]) rs878853631
NM_000076.2(CDKN1C):c.561T>C (p.Ala187=) rs384713
NM_000076.2(CDKN1C):c.567T>C (p.Ala189=) rs112196492
NM_000076.2(CDKN1C):c.570G>C (p.Pro190=) rs550978405
NM_000076.2(CDKN1C):c.573_578dup (p.179_180AP[9]) rs1302209410
NM_000076.2(CDKN1C):c.579T>C (p.Ala193=) rs1412788622
NM_000076.2(CDKN1C):c.579_596del (p.Val195_Pro200del) rs1203797892
NM_000076.2(CDKN1C):c.579_614del (p.Val195_Pro206del) rs1554937877
NM_000076.2(CDKN1C):c.582A>G (p.Pro194=) rs1340993922
NM_000076.2(CDKN1C):c.588G>A (p.Ala196=) rs878853633
NM_000076.2(CDKN1C):c.588_593GGCCCC[1] (p.197_198AP[9]) rs1060503855
NM_000076.2(CDKN1C):c.588_593GGCCCC[3] (p.197_198AP[11]) rs1060503855
NM_000076.2(CDKN1C):c.597C>T (p.Ala199=) rs1554937891
NM_000076.2(CDKN1C):c.600_605dup (p.197_198AP[11]) rs1060503860
NM_000076.2(CDKN1C):c.600_623dup (p.197_198AP[14]) rs878853637
NM_000076.2(CDKN1C):c.600_629del (p.197_198AP[5]) rs1064792990
NM_000076.2(CDKN1C):c.600_629dup (p.197_198AP[15]) rs1064792990
NM_000076.2(CDKN1C):c.606_611GGCCCC[1] (p.197_198AP[7]) rs759134767
NM_000076.2(CDKN1C):c.606_611GGCCCC[3] (p.197_198AP[9]) rs759134767
NM_000076.2(CDKN1C):c.606_611GGCCCC[8] (p.197_198AP[14]) rs759134767
NM_000076.2(CDKN1C):c.612G>A (p.Pro204=) rs794726872
NM_000076.2(CDKN1C):c.618G>A (p.Pro206=) rs1060503858
NM_000076.2(CDKN1C):c.620_649del (p.197_198AP[5]) rs878853638
NM_000076.2(CDKN1C):c.620_649dup (p.197_198AP[15]) rs878853638
NM_000076.2(CDKN1C):c.626_649dup (p.197_198AP[14]) rs778468310
NM_000076.2(CDKN1C):c.627C>T (p.Ala209=) rs1060503866
NM_000076.2(CDKN1C):c.630C>G (p.Pro210=) rs767656648
NM_000076.2(CDKN1C):c.630_635dup (p.197_198AP[11]) rs786205238
NM_000076.2(CDKN1C):c.630_641dup (p.197_198AP[12]) rs1380480846
NM_000076.2(CDKN1C):c.630_647del (p.197_198AP[7]) rs747360016
NM_000076.2(CDKN1C):c.632_633insACCGGC (p.197_198AP[11]) rs771450542
NM_000076.2(CDKN1C):c.632_637CCCCGG[1] (p.197_198AP[8]) rs772704243
NM_000076.2(CDKN1C):c.632_637CCCCGG[2] (p.197_198AP[9]) rs772704243
NM_000076.2(CDKN1C):c.632_637CCCCGG[4] (p.197_198AP[11]) rs772704243
NM_000076.2(CDKN1C):c.684G>T (p.Ala228=) rs761539484
NM_000076.2(CDKN1C):c.693G>A (p.Gly231=) rs1554937788
NM_000076.2(CDKN1C):c.702C>G (p.Gly234=) rs546016935
NM_000076.2(CDKN1C):c.732G>C (p.Ser244=) rs751650132
NM_000076.2(CDKN1C):c.78C>T (p.Arg26=) rs1360965916
NM_000076.2(CDKN1C):c.801G>C (p.Leu267=) rs745815931
NM_000076.2(CDKN1C):c.804C>A (p.Ser268=) rs747104008
NM_000076.2(CDKN1C):c.804C>T (p.Ser268=) rs747104008
NM_000076.2(CDKN1C):c.820+10G>A rs777855717
NM_000076.2(CDKN1C):c.821-5C>G rs775227462
NM_000076.2(CDKN1C):c.821-5C>T rs775227462
NM_000076.2(CDKN1C):c.821-8G>T rs762520730
NM_000076.2(CDKN1C):c.849G>A (p.Ala283=) rs1554937506
NM_000076.2(CDKN1C):c.861G>A (p.Ser287=) rs373252940
NM_000076.2(CDKN1C):c.861G>C (p.Ser287=) rs373252940
NM_000076.2(CDKN1C):c.864G>A (p.Ser288=) rs370564696
NM_000076.2(CDKN1C):c.876C>G (p.Pro292=) rs773166985
NM_000076.2(CDKN1C):c.888C>T (p.Pro296=) rs779172459
NM_000076.2(CDKN1C):c.897C>T (p.Ser299=) rs1554937479
NM_000076.2(CDKN1C):c.906T>C (p.Pro302=) rs780417247
NM_000076.2(CDKN1C):c.906T>G (p.Pro302=) rs780417247
NM_000076.2(CDKN1C):c.90C>T (p.Cys30=) rs759365577
NM_000076.2(CDKN1C):c.918G>C (p.Ser306=) rs1060503861
NM_000076.2(CDKN1C):c.950G>A (p.Ter317=) rs1363802623
NM_000084.4(CLCN5):c.-230G>A rs781805006
NM_000091.4(COL4A3):c.*1663G>C rs56030607
NM_000091.4(COL4A3):c.*1681A>G rs78758928
NM_000091.4(COL4A3):c.*177A>G rs139638980
NM_000091.4(COL4A3):c.*2452T>C rs4470338
NM_000091.4(COL4A3):c.*2837_*2839delATA rs137947510
NM_000091.4(COL4A3):c.*286C>T rs6436677
NM_000091.4(COL4A3):c.*589C>T rs55698424
NM_000091.4(COL4A3):c.*595A>T rs56123646
NM_000091.4(COL4A3):c.*981C>T rs1134745
NM_000091.4(COL4A3):c.1223G>A (p.Arg408His) rs34505188
NM_000091.4(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.4(COL4A3):c.1452G>A (p.Gly484=) rs34019152
NM_000091.4(COL4A3):c.1576-15T>G rs56243460
NM_000091.4(COL4A3):c.2715C>T (p.Pro905=) rs75519005
NM_000091.4(COL4A3):c.325-18G>T rs777117192
NM_000091.4(COL4A3):c.3419-14T>G rs116133488
NM_000091.4(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801
NM_000091.4(COL4A3):c.399G>A (p.Gly133=) rs75683214
NM_000091.4(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414
NM_000091.4(COL4A3):c.547-9A>C rs55667591
NM_000091.4(COL4A3):c.766-13G>A rs77431913
NM_000091.4(COL4A3):c.805G>A (p.Glu269Lys) rs80109666
NM_000091.4(COL4A3):c.88-4C>T rs148393022
NM_000091.4(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767
NM_000092.4(COL4A4):c.*244C>T rs56196639
NM_000092.4(COL4A4):c.*4491_*4494dupAAGA rs151077907
NM_000092.4(COL4A4):c.*4602C>G rs1054415
NM_000092.4(COL4A4):c.*581G>A rs79659665
NM_000092.4(COL4A4):c.1323T>C (p.Pro441=) rs35830639
NM_000092.4(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.1821G>A (p.Ala607=) rs114684841
NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) rs34236495
NM_000092.4(COL4A4):c.2165-13delT rs140965334
NM_000092.4(COL4A4):c.2165-15T>G rs60344965
NM_000092.4(COL4A4):c.2276C>T (p.Pro759Leu) rs36121515
NM_000092.4(COL4A4):c.2384-5T>C rs3769641
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272
NM_000092.4(COL4A4):c.2796G>A (p.Lys932=) rs34591179
NM_000092.4(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.4(COL4A4):c.3233C>T (p.Ala1078Val) rs79143859
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.3978A>G (p.Pro1326=) rs780675797
NM_000092.4(COL4A4):c.3984A>T (p.Gly1328=) rs750748339
NM_000092.4(COL4A4):c.4038T>C (p.Gly1346=) rs565940301
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.4(COL4A4):c.4053A>G (p.Pro1351=) rs1553624041
NM_000092.4(COL4A4):c.4081+15T>C rs1356475870
NM_000092.4(COL4A4):c.4081+22A>C rs1553623967
NM_000092.4(COL4A4):c.4081+22A>G rs1553623967
NM_000092.4(COL4A4):c.4081+7T>C rs779775976
NM_000092.4(COL4A4):c.4091-323A>G rs774221440
NM_000092.4(COL4A4):c.4091-330T>C rs774439386
NM_000092.4(COL4A4):c.4091-336C>T rs925971110
NM_000092.4(COL4A4):c.4091-346A>G rs753906137
NM_000092.4(COL4A4):c.4091-348T>C rs1553620812
NM_000092.4(COL4A4):c.4091-349G>A rs1434118080
NM_000092.4(COL4A4):c.4091-356_4091-355dup rs1553620826
NM_000092.4(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306
NM_000092.4(COL4A4):c.948T>C (p.Tyr316=) rs34509421
NM_000097.7(CPOX):c.*1072C>T rs148251059
NM_000097.7(CPOX):c.*1105A>G rs73133922
NM_000097.7(CPOX):c.*136G>C rs142440038
NM_000097.7(CPOX):c.*227G>A rs146214523
NM_000097.7(CPOX):c.*28del rs144234554
NM_000097.7(CPOX):c.*381C>T rs141236816
NM_000097.7(CPOX):c.*73T>C rs139447447
NM_000097.7(CPOX):c.*939A>G rs539237301
NM_000097.7(CPOX):c.*95G>A rs2229123
NM_000097.7(CPOX):c.-54C>T rs75986763
NM_000097.7(CPOX):c.-55G>C rs115030377
NM_000097.7(CPOX):c.-56G>C rs184287214
NM_000097.7(CPOX):c.1172+14A>G rs16839985
NM_000097.7(CPOX):c.1266T>A (p.Pro422=) rs563304155
NM_000097.7(CPOX):c.165C>T (p.Gly55=) rs563975822
NM_000097.7(CPOX):c.252G>A (p.Gly84=) rs376917019
NM_000097.7(CPOX):c.284A>G (p.His95Arg) rs192332456
NM_000097.7(CPOX):c.337C>T (p.Leu113=) rs146543713
NM_000097.7(CPOX):c.395C>T (p.Ala132Val) rs147219463
NM_000097.7(CPOX):c.556+9G>A rs184983281
NM_000097.7(CPOX):c.612G>A (p.Gly204=) rs149384011
NM_000130.4(F5):c.*1115C>T rs2040444
NM_000130.4(F5):c.*1118G>A rs9332675
NM_000130.4(F5):c.*1246C>T rs9332676
NM_000130.4(F5):c.*1436T>A rs9332678
NM_000130.4(F5):c.*1601C>T rs2187952
NM_000130.4(F5):c.*1820A>C rs72708013
NM_000130.4(F5):c.*2328G>C rs6427196
NM_000130.4(F5):c.*873C>T rs9332673
NM_000130.4(F5):c.1238T>C (p.Met413Thr) rs6033
NM_000130.4(F5):c.1380C>T (p.Asn460=) rs6015
NM_000130.4(F5):c.158+13T>C rs116416322
NM_000130.4(F5):c.1716G>A (p.Glu572=) rs6036
NM_000130.4(F5):c.1926C>A (p.Thr642=) rs6037
NM_000130.4(F5):c.2208C>T (p.Ile736=) rs6016
NM_000130.4(F5):c.2235T>C (p.Asn745=) rs6017
NM_000130.4(F5):c.2289A>G (p.Glu763=) rs6024
NM_000130.4(F5):c.2301A>G (p.Ser767=) rs6021
NM_000130.4(F5):c.237A>G (p.Gln79=) rs6028
NM_000130.4(F5):c.2425C>T (p.Pro809Ser) rs6031
NM_000130.4(F5):c.2450A>C (p.Asn817Thr) rs6018
NM_000130.4(F5):c.2594A>G (p.His865Arg) rs4525
NM_000130.4(F5):c.2773A>G (p.Lys925Glu) rs6032
NM_000130.4(F5):c.2925C>T (p.Pro975=) rs41272457
NM_000130.4(F5):c.319G>C (p.Asp107His) rs6019
NM_000130.4(F5):c.3438C>G (p.His1146Gln) rs6005
NM_000130.4(F5):c.3504A>C (p.Thr1168=) rs13306332
NM_000130.4(F5):c.3804T>C (p.Ser1268=) rs1800594
NM_000130.4(F5):c.3853C>A (p.Leu1285Ile) rs1046712
NM_000130.4(F5):c.3948C>T (p.Leu1316=) rs9287090
NM_000130.4(F5):c.405G>A (p.Ala135=) rs6029
NM_000130.4(F5):c.4095C>T (p.Thr1365=) rs9332607
NM_000130.4(F5):c.4189C>T (p.Leu1397Phe) rs13306334
NM_000130.4(F5):c.4210C>T (p.Pro1404Ser) rs9332608
NM_000130.4(F5):c.43G>A (p.Gly15Ser) rs9332485
NM_000130.4(F5):c.5022A>G (p.Gly1674=) rs6010
NM_000130.4(F5):c.5419+11C>T rs6008
NM_000130.4(F5):c.5419+12A>G rs6009
NM_000130.4(F5):c.5460G>A (p.Met1820Ile) rs6026
NM_000130.4(F5):c.552G>T (p.Ser184=) rs6022
NM_000130.4(F5):c.564G>C (p.Gly188=) rs1557573
NM_000130.4(F5):c.6443T>C (p.Met2148Thr) rs9332701
NM_000130.4(F5):c.730+7C>T rs6023
NM_000130.4(F5):c.816C>T (p.Asn272=) rs9332578
NM_000135.2(FANCA):c.2505-10_2505-9delCT rs766900188
NM_000135.2(FANCA):c.2602-9_2602-8delCT rs577636020
NM_000135.4(FANCA):c.*1011C>T rs17227452
NM_000135.4(FANCA):c.*252G>C rs17233797
NM_000135.4(FANCA):c.*286C>T rs17233804
NM_000135.4(FANCA):c.*287G>A rs17227417
NM_000135.4(FANCA):c.*385C>G rs17227424
NM_000135.4(FANCA):c.*672del rs66471129
NM_000135.4(FANCA):c.*679T>G rs17233833
NM_000135.4(FANCA):c.*679del rs375657470
NM_000135.4(FANCA):c.*986G>A rs16966023
NM_000135.4(FANCA):c.1143G>A (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091
NM_000135.4(FANCA):c.1194C>T (p.Val398=) rs1158857420
NM_000135.4(FANCA):c.1203A>G (p.Pro401=) rs1180493781
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1290G>T (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1360-4A>G rs746911316
NM_000135.4(FANCA):c.1360-7C>T rs17232616
NM_000135.4(FANCA):c.1365C>T (p.Ser455=) rs897548553
NM_000135.4(FANCA):c.1419G>C (p.Leu473=) rs1337670144
NM_000135.4(FANCA):c.1461G>A (p.Arg487=) rs770851522
NM_000135.4(FANCA):c.1471-8A>G rs374717514
NM_000135.4(FANCA):c.1537T>C (p.Leu513=) rs144118098
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068
NM_000135.4(FANCA):c.169C>T (p.Leu57=) rs368828271
NM_000135.4(FANCA):c.1701C>T (p.Thr567=) rs745466726
NM_000135.4(FANCA):c.1710G>A (p.Glu570=) rs17226344
NM_000135.4(FANCA):c.1740G>A (p.Val580=) rs1400163791
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282
NM_000135.4(FANCA):c.1872C>A (p.Ala624=) rs571449307
NM_000135.4(FANCA):c.189+7G>A rs369985388
NM_000135.4(FANCA):c.1900+7T>A rs377401016
NM_000135.4(FANCA):c.1901-5C>G rs1060504375
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917
NM_000135.4(FANCA):c.201A>G (p.Pro67=) rs775320466
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086
NM_000135.4(FANCA):c.2124G>A (p.Thr708=) rs201668358
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.2172G>A (p.Thr724=) rs768851944
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.4(FANCA):c.2222+9G>A rs774316742
NM_000135.4(FANCA):c.2222+9G>C rs774316742
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906
NM_000135.4(FANCA):c.2317-8C>T rs753766357
NM_000135.4(FANCA):c.2391G>A (p.Ala797=) rs147882314
NM_000135.4(FANCA):c.2478G>A (p.Thr826=) rs147283549
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444
NM_000135.4(FANCA):c.2502G>A (p.Leu834=) rs770993950
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571
NM_000135.4(FANCA):c.2628C>A (p.Phe876Leu) rs368987148
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) rs149435806
NM_000135.4(FANCA):c.2648T>A (p.Leu883His) rs879255256
NM_000135.4(FANCA):c.2779-7T>C rs17233253
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980
NM_000135.4(FANCA):c.2904G>T (p.Ser968=) rs568354015
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287
NM_000135.4(FANCA):c.2981+4dup rs75004096
NM_000135.4(FANCA):c.2994T>C (p.Tyr998=) rs758384536
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616
NM_000135.4(FANCA):c.3067-4T>C rs17227064
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389
NM_000135.4(FANCA):c.3168C>T (p.Leu1056=) rs377633991
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346
NM_000135.4(FANCA):c.324C>T (p.Pro108=) rs775822054
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=) rs878853664
NM_000135.4(FANCA):c.3409-6C>G rs377428227
NM_000135.4(FANCA):c.3409-6C>T rs377428227
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=) rs1266179547
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625
NM_000135.4(FANCA):c.3576G>A (p.Pro1192=) rs553086820
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304
NM_000135.4(FANCA):c.3627-7G>C rs1161905441
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358
NM_000135.4(FANCA):c.3669C>T (p.Asp1223=) rs187074190
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.3792C>T (p.Ser1264=) rs141128234
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=) rs138144828
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.3934+74C>G rs56216970
NM_000135.4(FANCA):c.3935-4G>A rs1392135704
NM_000135.4(FANCA):c.3935-6T>C rs368376237
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396
NM_000135.4(FANCA):c.4167+8C>G rs772665586
NM_000135.4(FANCA):c.4210C>T (p.Leu1404=) rs1379441535
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln) rs370507983
NM_000135.4(FANCA):c.4261-8T>G rs372268907
NM_000135.4(FANCA):c.4261-9C>G rs368506826
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201
NM_000135.4(FANCA):c.4326T>C (p.Ala1442=) rs1555532716
NM_000135.4(FANCA):c.537T>G (p.Leu179=) rs749811331
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.543G>A (p.Ala181=) rs143314367
NM_000135.4(FANCA):c.596+6G>A rs369548513
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.4(FANCA):c.793-5G>T rs1461529538
NM_000135.4(FANCA):c.793-9T>C rs757500718
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566
NM_000135.4(FANCA):c.87G>A (p.Arg29=) rs760787108
NM_000135.4(FANCA):c.894-8A>G rs11648881
NM_000135.4(FANCA):c.897C>T (p.Phe299=) rs765341703
NM_000135.4(FANCA):c.924C>T (p.Gly308=) rs143255238
NM_000135.4(FANCA):c.948G>A (p.Leu316=) rs767146506
NM_000136.2(FANCC):c.1329+181_1329+183delCCT rs587778328
NM_000136.2(FANCC):c.1329+246delC rs542091036
NM_000136.2(FANCC):c.1534-5delT rs748342368
NM_000136.2(FANCC):c.345+8_345+9delAG rs755657969
NM_000136.2(FANCC):c.346-11_346-10delAT rs863224324
NM_000136.2(FANCC):c.844-10_844-8delCCT rs758617953
NM_000136.3(FANCC):c.*116A>C rs7048910
NM_000136.3(FANCC):c.*2085C>A rs4647559
NM_000136.3(FANCC):c.*2552T>C rs9673
NM_000136.3(FANCC):c.*359A>G rs4647551
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000136.3(FANCC):c.*604_*605del rs56271854
NM_000136.3(FANCC):c.*715_*718AGTT[2] rs56250966
NM_000136.3(FANCC):c.-29A>C rs4647414
NM_000136.3(FANCC):c.1023T>C (p.Phe341=) rs758439579
NM_000136.3(FANCC):c.1073-4G>A rs147695697
NM_000136.3(FANCC):c.1073-5C>T rs375613884
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.1161C>T (p.Cys387=) rs548998258
NM_000136.3(FANCC):c.1200C>T (p.Phe400=) rs767215159
NM_000136.3(FANCC):c.1242G>A (p.Ser414=) rs587780939
NM_000136.3(FANCC):c.1257C>A (p.Pro419=) rs878853669
NM_000136.3(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=) rs766105286
NM_000136.3(FANCC):c.1329+10A>G rs977427150
NM_000136.3(FANCC):c.1329+238C>T rs768988593
NM_000136.3(FANCC):c.1344C>T (p.Ala448=) rs760983825
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698
NM_000136.3(FANCC):c.1425A>G (p.Thr475=) rs199739450
NM_000136.3(FANCC):c.1485G>C (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080
NM_000136.3(FANCC):c.1530C>T (p.Thr510=) rs372199352
NM_000136.3(FANCC):c.1533+9C>T rs863224323
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474
NM_000136.3(FANCC):c.1594A>C (p.Arg532=) rs764649916
NM_000136.3(FANCC):c.15A>G (p.Ser5=) rs778408360
NM_000136.3(FANCC):c.1611C>A (p.Gly537=) rs1027358273
NM_000136.3(FANCC):c.1623T>G (p.Pro541=) rs375362894
NM_000136.3(FANCC):c.166-5C>T rs753820400
NM_000136.3(FANCC):c.166-7T>C rs369052148
NM_000136.3(FANCC):c.222T>C (p.Ala74=) rs1554857821
NM_000136.3(FANCC):c.288T>C (p.Cys96=) rs864622349
NM_000136.3(FANCC):c.399T>G (p.Leu133=) rs864622764
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832
NM_000136.3(FANCC):c.457-7T>C rs749994612
NM_000136.3(FANCC):c.468A>G (p.Ser156=) rs148616725
NM_000136.3(FANCC):c.521+10_521+13del rs1372625836
NM_000136.3(FANCC):c.522-4A>G rs371422485
NM_000136.3(FANCC):c.531C>T (p.Pro177=) rs150070473
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.654G>A (p.Glu218=) rs754705988
NM_000136.3(FANCC):c.672C>T (p.Asn224=) rs150647141
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.3(FANCC):c.783A>C (p.Leu261=) rs1060504646
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.3(FANCC):c.843+4C>T rs4647506
NM_000136.3(FANCC):c.882T>C (p.Val294=) rs750639831
NM_000136.3(FANCC):c.896+7G>A rs1554833182
NM_000136.3(FANCC):c.897-10C>T rs955495354
NM_000136.3(FANCC):c.897-8T>C rs878853673
NM_000136.3(FANCC):c.906C>G (p.Leu302=) rs766079351
NM_000136.3(FANCC):c.906C>T (p.Leu302=) rs766079351
NM_000136.3(FANCC):c.915C>T (p.Thr305=) rs138132690
NM_000136.3(FANCC):c.924C>G (p.Ala308=) rs864622225
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000136.3(FANCC):c.957G>A (p.Thr319=) rs1060504647
NM_000136.3(FANCC):c.993G>A (p.Lys331=) rs748582850
NM_000136.3(FANCC):c.996+9dup rs781108327
NM_000137.3(FAH):c.1259G>A (p.Ter420=) rs61747586
NM_000137.3(FAH):c.843C>G (p.Pro281=) rs755556442
NM_000137.3(FAH):c.961-17G>A rs372657388
NM_000140.4(FECH):c.*1032G>A rs140863287
NM_000140.4(FECH):c.*1039G>A rs185134664
NM_000140.4(FECH):c.*1054T>C rs192343321
NM_000140.4(FECH):c.*1479T>C rs112062178
NM_000140.4(FECH):c.*1508G>A rs540286571
NM_000140.4(FECH):c.*1567A>G rs574153215
NM_000140.4(FECH):c.*1915G>T rs148459563
NM_000140.4(FECH):c.*2443T>G rs201834035
NM_000140.4(FECH):c.*2644A>G rs558443758
NM_000140.4(FECH):c.*2788G>A rs145954113
NM_000140.4(FECH):c.*2840C>T rs568628377
NM_000140.4(FECH):c.*3129C>T rs137955859
NM_000140.4(FECH):c.*3170T>C rs75976774
NM_000140.4(FECH):c.*3339G>A rs113928110
NM_000140.4(FECH):c.*347G>A rs113392534
NM_000140.4(FECH):c.*3567G>A rs556538397
NM_000140.4(FECH):c.*3691C>T rs148141502
NM_000140.4(FECH):c.*3716C>T rs567960865
NM_000140.4(FECH):c.*3804G>A rs190604320
NM_000140.4(FECH):c.*3841C>T rs143797631
NM_000140.4(FECH):c.*4056C>T rs181920623
NM_000140.4(FECH):c.*4367C>T rs146417207
NM_000140.4(FECH):c.*4368G>A rs543603003
NM_000140.4(FECH):c.*4445G>A rs578202706
NM_000140.4(FECH):c.*4458C>T rs113000324
NM_000140.4(FECH):c.*4597T>C rs147684323
NM_000140.4(FECH):c.*4793_*4795TTA[1] rs137860528
NM_000140.4(FECH):c.*4829C>T rs565989254
NM_000140.4(FECH):c.*4883_*4884insC rs201434287
NM_000140.4(FECH):c.*5139C>T rs151197779
NM_000140.4(FECH):c.*5140G>A rs55987829
NM_000140.4(FECH):c.*5143C>T rs139987131
NM_000140.4(FECH):c.*5394G>T rs145935279
NM_000140.4(FECH):c.*571G>A rs114617188
NM_000140.4(FECH):c.*5801T>G rs139119026
NM_000140.4(FECH):c.*592C>T rs577112809
NM_000140.4(FECH):c.*892T>C rs13271
NM_000140.4(FECH):c.*936C>T rs144709743
NM_000140.4(FECH):c.132C>T (p.Ala44=) rs147500247
NM_000140.4(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.4(FECH):c.362A>G (p.Glu121Gly) rs141813907
NM_000140.4(FECH):c.385G>A (p.Gly129Arg) rs138714094
NM_000140.4(FECH):c.514G>A (p.Glu172Lys) rs200650502
NM_000140.4(FECH):c.801G>A (p.Met267Ile) rs118204037
NM_000140.4(FECH):c.913-13A>G rs200538834
NM_000140.4(FECH):c.913-7C>T rs369538477
NM_000143.3(FH):c.*102T>C rs200093224
NM_000143.3(FH):c.*221_*222delTT rs112946286
NM_000143.3(FH):c.*266A>G rs113667027
NM_000143.3(FH):c.-11C>T rs200942733
NM_000143.3(FH):c.105G>A (p.Ser35=) rs181655698
NM_000143.3(FH):c.122C>T (p.Ala41Val) rs201486221
NM_000143.3(FH):c.1236+14C>T rs149241949
NM_000143.3(FH):c.1237-14_1237-9dup rs779985493
NM_000143.3(FH):c.1421C>G (p.Thr474Arg) rs369802820
NM_000143.3(FH):c.379-15A>T rs374529177
NM_000143.3(FH):c.53C>T (p.Pro18Leu) rs201887750
NM_000143.3(FH):c.63C>T (p.Ala21=) rs555404867
NM_000143.3(FH):c.739-10T>C rs201971572
NM_000143.3(FH):c.77C>T (p.Pro26Leu) rs187226800
NM_000151.4(G6PC):c.*1012C>T rs75063448
NM_000151.4(G6PC):c.*1304G>A rs549833149
NM_000151.4(G6PC):c.*3G>A rs191399793
NM_000151.4(G6PC):c.*727T>C rs80193931
NM_000151.4(G6PC):c.*877T>C rs72826982
NM_000151.4(G6PC):c.340+20C>T rs183285298
NM_000151.4(G6PC):c.432G>A (p.Pro144=) rs161628
NM_000151.4(G6PC):c.447G>A (p.Arg149=) rs549712764
NM_000151.4(G6PC):c.558G>T (p.Leu186=) rs141376085
NM_000151.4(G6PC):c.606T>C (p.Tyr202=) rs1555560103
NM_000151.4(G6PC):c.993G>A (p.Ala331=) rs369238258
NM_000154.2(GALK1):c.1089C>T (p.His363=) rs200502537
NM_000154.2(GALK1):c.187C>T (p.Leu63=) rs1555748724
NM_000154.2(GALK1):c.189G>A (p.Leu63=) rs7211385
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000155.4(GALT):c.1059+24G>A rs111033840
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.4(GALT):c.498T>C (p.Pro166=) rs193922249
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.821-46G>T rs111033776
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000168.5(GLI3):c.*3392G>T rs115519476
NM_000168.5(GLI3):c.1029-16dupT rs559579130
NM_000168.5(GLI3):c.827-14dupT rs200073401
NM_000168.6(GLI3):c.*1042dup rs200076691
NM_000168.6(GLI3):c.*1080G>A rs58924064
NM_000168.6(GLI3):c.*1087A>T rs76023240
NM_000168.6(GLI3):c.*11A>G rs139896177
NM_000168.6(GLI3):c.*1297G>A rs116029585
NM_000168.6(GLI3):c.*136T>A rs78794712
NM_000168.6(GLI3):c.*1464A>G rs566417596
NM_000168.6(GLI3):c.*1623A>G rs183853326
NM_000168.6(GLI3):c.*1691C>T rs181261768
NM_000168.6(GLI3):c.*185G>A rs531678760
NM_000168.6(GLI3):c.*2019C>T rs73318085
NM_000168.6(GLI3):c.*2071C>T rs539931592
NM_000168.6(GLI3):c.*2117A>G rs185099021
NM_000168.6(GLI3):c.*2276T>C rs568393106
NM_000168.6(GLI3):c.*2347C>A rs138209843
NM_000168.6(GLI3):c.*2357T>A rs562705224
NM_000168.6(GLI3):c.*249A>T rs6972450
NM_000168.6(GLI3):c.*2620C>G rs56158069
NM_000168.6(GLI3):c.*2715G>A rs193192167
NM_000168.6(GLI3):c.*30G>T rs77886553
NM_000168.6(GLI3):c.*3238C>T rs372628047
NM_000168.6(GLI3):c.*3262A>G rs73096902
NM_000168.6(GLI3):c.*3309C>A rs553151369
NM_000168.6(GLI3):c.*655A>G rs77197280
NM_000168.6(GLI3):c.*726A>G rs118157739
NM_000168.6(GLI3):c.*835G>A rs73688609
NM_000168.6(GLI3):c.*847C>A rs116986447
NM_000168.6(GLI3):c.*943G>A rs139782938
NM_000168.6(GLI3):c.-68G>A rs113629469
NM_000168.6(GLI3):c.1028+15G>A rs116842918
NM_000168.6(GLI3):c.1029-11C>T rs116195563
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.1485G>A (p.Glu495=) rs149248727
NM_000168.6(GLI3):c.1497C>T (p.His499=) rs539144173
NM_000168.6(GLI3):c.1509C>T (p.Asn503=) rs34020684
NM_000168.6(GLI3):c.1647+13G>A rs149955824
NM_000168.6(GLI3):c.1843A>T (p.Thr615Ser) rs200913720
NM_000168.6(GLI3):c.1959G>A (p.Pro653=) rs148226583
NM_000168.6(GLI3):c.2083G>A (p.Val695Ile) rs199606102
NM_000168.6(GLI3):c.211G>A (p.Val71Ile) rs143843875
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr) rs137939155
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047
NM_000168.6(GLI3):c.2826G>C (p.Pro942=) rs34245321
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978
NM_000168.6(GLI3):c.2856C>T (p.Ser952=) rs1214730213
NM_000168.6(GLI3):c.3015C>T (p.Ala1005=) rs200965852
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330
NM_000168.6(GLI3):c.3084C>T (p.Ser1028=) rs79703713
NM_000168.6(GLI3):c.3117G>A (p.Ala1039=) rs75796620
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) rs118149040
NM_000168.6(GLI3):c.3669C>T (p.Tyr1223=) rs773687251
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=) rs148043302
NM_000168.6(GLI3):c.3774C>G (p.Leu1258=) rs35448119
NM_000168.6(GLI3):c.3804C>T (p.Leu1268=) rs373193430
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu) rs146582871
NM_000168.6(GLI3):c.3894G>A (p.Pro1298=) rs530418832
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457
NM_000168.6(GLI3):c.3984C>T (p.Leu1328=) rs148940743
NM_000168.6(GLI3):c.3987C>T (p.Gly1329=) rs145859702
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=) rs149860242
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470
NM_000168.6(GLI3):c.4020C>T (p.Pro1340=) rs35139358
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970
NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu) rs145419251
NM_000168.6(GLI3):c.4524C>T (p.Ala1508=) rs201112421
NM_000168.6(GLI3):c.4533C>T (p.Asp1511=) rs145513625
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414
NM_000168.6(GLI3):c.4638A>G (p.Pro1546=) rs1233172983
NM_000168.6(GLI3):c.474-4C>T rs74536326
NM_000168.6(GLI3):c.4740A>G (p.Gln1580=) rs375653915
NM_000168.6(GLI3):c.501G>A (p.Thr167=) rs149901929
NM_000168.6(GLI3):c.633A>G (p.Pro211=) rs769152784
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911
NM_000169.2(GLA):c.-105A>G rs3027583
NM_000169.2(GLA):c.-125T>G rs185255090
NM_000169.2(GLA):c.-12G>A rs3027585
NM_000169.2(GLA):c.-30G>A rs3027584
NM_000169.2(GLA):c.-8C>G rs371291716
NM_000169.2(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.2(GLA):c.123C>T (p.Thr41=) rs137902198
NM_000169.2(GLA):c.33C>T (p.Gly11=) rs781856890
NM_000169.2(GLA):c.369T>C (p.Tyr123=) rs869312282
NM_000169.2(GLA):c.402T>C (p.Tyr134=) rs1183869568
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.591C>T (p.Ser197=) rs898606246
NM_000169.2(GLA):c.640-11T>C rs782634293
NM_000169.2(GLA):c.6G>A (p.Gln2=) rs782748047
NM_000169.2(GLA):c.714T>C (p.Ser238=) rs397515872
NM_000169.2(GLA):c.755G>C (p.Arg252Thr) rs147026639
NM_000169.2(GLA):c.858C>T (p.Leu286=) rs869312428
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_000176.3(NR3C1):c.*2042C>T rs13306586
NM_000176.3(NR3C1):c.*2188A>G rs6193
NM_000176.3(NR3C1):c.*290A>C rs72542758
NM_000176.3(NR3C1):c.*3076C>T rs72542769
NM_000176.3(NR3C1):c.*3153C>T rs2301177
NM_000176.3(NR3C1):c.*3298G>T rs6191
NM_000176.3(NR3C1):c.*3550G>A rs10482714
NM_000176.3(NR3C1):c.*3833A>G rs6198
NM_000176.3(NR3C1):c.1088A>G (p.Asn363Ser) rs56149945
NM_000176.3(NR3C1):c.1242A>G (p.Thr414=) rs67902340
NM_000176.3(NR3C1):c.1764C>T (p.His588=) rs6194
NM_000176.3(NR3C1):c.2034C>T (p.Asp678=) rs258751
NM_000176.3(NR3C1):c.2182-9C>G rs72542757
NM_000176.3(NR3C1):c.2250C>T (p.Pro750=) rs67300719
NM_000176.3(NR3C1):c.2298T>C (p.Asn766=) rs6196
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_000176.3(NR3C1):c.68G>A (p.Arg23Lys) rs6190
NM_000176.3(NR3C1):c.879G>A (p.Lys293=) rs10482622
NM_000176.3(NR3C1):c.897A>G (p.Thr299=) rs13306588
NM_000186.3(CFH):c.*98C>T rs35742764
NM_000186.3(CFH):c.-124G>T rs527444515
NM_000186.3(CFH):c.-36G>C rs140356702
NM_000186.3(CFH):c.-79A>G rs35906110
NM_000186.3(CFH):c.1428A>G (p.Gln476=) rs34399588
NM_000186.3(CFH):c.1548T>A (p.Asn516Lys) rs147403664
NM_000186.3(CFH):c.1652T>C (p.Ile551Thr) rs35453854
NM_000186.3(CFH):c.1736T>C (p.Val579Ala) rs201411537
NM_000186.3(CFH):c.1935G>T (p.Thr645=) rs56035657
NM_000186.3(CFH):c.1949G>T (p.Gly650Val) rs143237092
NM_000186.3(CFH):c.2196G>A (p.Thr732=) rs144325643
NM_000186.3(CFH):c.2236+8T>A rs7537967
NM_000186.3(CFH):c.245-7G>A rs35814900
NM_000186.3(CFH):c.2509G>A (p.Val837Ile) rs55807605
NM_000186.3(CFH):c.2634C>T (p.His878=) rs35292876
NM_000186.3(CFH):c.2637A>G (p.Gly879=) rs55752475
NM_000186.3(CFH):c.2639C>T (p.Thr880Ile) rs186711438
NM_000186.3(CFH):c.2850G>T (p.Gln950His) rs149474608
NM_000186.3(CFH):c.2867C>T (p.Thr956Met) rs145975787
NM_000186.3(CFH):c.2957-7A>G rs190778135
NM_000186.3(CFH):c.3050C>T (p.Thr1017Ile) rs34362004
NM_000186.3(CFH):c.3102T>C (p.Asn1034=) rs34594237
NM_000186.3(CFH):c.3133+8G>T rs142718541
NM_000186.3(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867
NM_000186.3(CFH):c.3172T>C (p.Tyr1058His) rs55679475
NM_000186.3(CFH):c.3176T>C (p.Ile1059Thr) rs35343172
NM_000186.3(CFH):c.3178G>C (p.Val1060Leu) rs55771831
NM_000186.3(CFH):c.3207T>C (p.Ser1069=) rs62641697
NM_000186.3(CFH):c.350+9T>C rs201686629
NM_000186.3(CFH):c.428-14T>C rs184188486
NM_000186.3(CFH):c.477T>C (p.Ser159=) rs34940854
NM_000186.3(CFH):c.770G>A (p.Arg257His) rs140107330
NM_000190.4(HMBS):c.-28A>C rs201349602
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn) rs144949995
NM_000190.4(HMBS):c.210+5C>A rs79983883
NM_000190.4(HMBS):c.303C>T (p.Pro101=) rs139147408
NM_000190.4(HMBS):c.612+4G>A rs745705652
NM_000190.4(HMBS):c.717C>T (p.His239=) rs114025170
NM_000190.4(HMBS):c.723C>T (p.Pro241=) rs202067277
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000198.4(HSD3B2):c.*202A>G rs9282704
NM_000198.4(HSD3B2):c.*321C>G rs1361530
NM_000198.4(HSD3B2):c.*96C>G rs9282703
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=) rs33926546
NM_000204.4(CFI):c.*144T>C rs77449037
NM_000204.4(CFI):c.*7G>T rs80173133
NM_000204.4(CFI):c.-13G>A rs113612355
NM_000204.4(CFI):c.1044+8C>T rs190420174
NM_000204.4(CFI):c.1044+9G>A rs568070697
NM_000204.4(CFI):c.1206C>T (p.Pro402=) rs115780371
NM_000204.4(CFI):c.1246A>C (p.Ile416Leu) rs61733901
NM_000204.4(CFI):c.1322A>G (p.Lys441Arg) rs41278047
NM_000204.4(CFI):c.1410T>C (p.Ser470=) rs200068862
NM_000204.4(CFI):c.1429+8T>C rs184313022
NM_000204.4(CFI):c.1443C>T (p.Val481=) rs114091883
NM_000204.4(CFI):c.1534+5G>T rs114013791
NM_000204.4(CFI):c.1581C>T (p.Gly527=) rs181378677
NM_000204.4(CFI):c.1642G>C (p.Glu548Gln) rs7437875
NM_000204.4(CFI):c.1657C>T (p.Pro553Ser) rs113460688
NM_000204.4(CFI):c.1661A>T (p.Glu554Val) rs754572081
NM_000204.4(CFI):c.315A>T (p.Thr105=) rs61745205
NM_000204.4(CFI):c.319A>G (p.Thr107Ala) rs201419000
NM_000204.4(CFI):c.482+14T>A rs76014294
NM_000204.4(CFI):c.608C>T (p.Thr203Ile) rs138346388
NM_000204.4(CFI):c.782G>A (p.Gly261Asp) rs112534524
NM_000204.4(CFI):c.905-3T>C rs377535161
NM_000204.4(CFI):c.916A>G (p.Ile306Val) rs113273712
NM_000213.5(ITGB4):c.*4C>T rs189610725
NM_000214.3(JAG1):c.*1084G>C rs148175963
NM_000214.3(JAG1):c.*1493A>G rs78471165
NM_000214.3(JAG1):c.*1511dup rs571057258
NM_000214.3(JAG1):c.*563_*565del rs139536676
NM_000214.3(JAG1):c.*619C>T rs146144464
NM_000214.3(JAG1):c.*756A>G rs45534738
NM_000214.3(JAG1):c.-299_-297AAG[1] rs147400796
NM_000214.3(JAG1):c.-42G>T rs374222937
NM_000214.3(JAG1):c.-514G>C rs533596136
NM_000214.3(JAG1):c.-528C>A rs191409481
NM_000214.3(JAG1):c.105C>T (p.Phe35=) rs765442930
NM_000214.3(JAG1):c.1110A>G (p.Thr370=) rs538048082
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1349-11T>G rs80338240
NM_000214.3(JAG1):c.1365T>G (p.Leu455=) rs376346902
NM_000214.3(JAG1):c.1389C>T (p.Ser463=) rs147229008
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139
NM_000214.3(JAG1):c.1794C>G (p.Val598=) rs200580391
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.2344+15C>G rs200139177
NM_000214.3(JAG1):c.2445C>T (p.Pro815=) rs777122869
NM_000214.3(JAG1):c.2502C>T (p.Thr834=) rs779052259
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415
NM_000214.3(JAG1):c.2682+8A>G rs560065330
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) rs2229895
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.2917-7G>A rs201573066
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3039T>C (p.His1013=) rs770077297
NM_000214.3(JAG1):c.388-4G>C rs567027490
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067
NM_000214.3(JAG1):c.440-173C>T rs2273061
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741
NM_000214.3(JAG1):c.81+9C>T rs1235592073
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136
NM_000229.2(LCAT):c.1177C>T (p.Leu393=) rs5923
NM_000239.2(LYZ):c.*169G>A rs568058282
NM_000239.2(LYZ):c.*191A>G rs183375295
NM_000239.2(LYZ):c.*242C>A rs576522577
NM_000239.2(LYZ):c.*415G>A rs183441118
NM_000239.2(LYZ):c.*418C>A rs534565279
NM_000239.2(LYZ):c.*461G>A rs531233279
NM_000239.2(LYZ):c.*521G>A rs567541896
NM_000239.2(LYZ):c.*735delA rs148802204
NM_000239.2(LYZ):c.*890T>C rs188271229
NM_000239.2(LYZ):c.156G>A (p.Trp52Ter) rs764263034
NM_000239.2(LYZ):c.415G>C (p.Val139Leu) rs367623154
NM_000243.2(MEFV):c.*1056G>T rs450021
NM_000243.2(MEFV):c.*133G>A rs2075849
NM_000243.2(MEFV):c.*245G>A rs2741919
NM_000243.2(MEFV):c.*267G>A rs2741918
NM_000243.2(MEFV):c.*466_*468delTTT rs61379197
NM_000243.2(MEFV):c.*474C>G rs11466051
NM_000243.2(MEFV):c.*475A>G rs11466052
NM_000243.2(MEFV):c.*743T>C rs170387
NM_000243.2(MEFV):c.*836_*837insACT rs34895148
NM_000243.2(MEFV):c.1092G>A (p.Pro364=) rs11466022
NM_000243.2(MEFV):c.124C>T (p.Arg42Trp) rs61754767
NM_000243.2(MEFV):c.1422G>A (p.Glu474=) rs224208
NM_000243.2(MEFV):c.1428A>G (p.Gln476=) rs224207
NM_000243.2(MEFV):c.1459G>C (p.Val487Leu) rs104895100
NM_000243.2(MEFV):c.1530T>C (p.Asp510=) rs224206
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1899G>T (p.Pro633=) rs776315170
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.2118G>A (p.Pro706=) rs2234939
NM_000243.2(MEFV):c.306T>C (p.Asp102=) rs224225
NM_000243.2(MEFV):c.378G>A (p.Gly126=) rs777867857
NM_000243.2(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.462G>A (p.Ser154=) rs1555459437
NM_000243.2(MEFV):c.495C>A (p.Ala165=) rs224223
NM_000243.2(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.2(MEFV):c.605G>A (p.Arg202Gln) rs224222
NM_000243.2(MEFV):c.630G>T (p.Ala210=) rs770830323
NM_000243.2(MEFV):c.663G>C (p.Pro221=) rs104895162
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.942C>T (p.Arg314=) rs224213
NM_000244.3(MEN1):c.-20G>A rs386134244
NM_000244.3(MEN1):c.1008C>T (p.Asn336=) rs370176253
NM_000244.3(MEN1):c.100C>T (p.Leu34=) rs771554497
NM_000244.3(MEN1):c.1014T>C (p.Asn338=) rs763133775
NM_000244.3(MEN1):c.1035C>A (p.Ala345=) rs1060503796
NM_000244.3(MEN1):c.1041G>A (p.Ala347=) rs878855184
NM_000244.3(MEN1):c.1047G>A (p.Thr349=) rs760183888
NM_000244.3(MEN1):c.1064+9C>A rs200517349
NM_000244.3(MEN1):c.1064+9C>G rs200517349
NM_000244.3(MEN1):c.1086C>T (p.Asp362=) rs371964966
NM_000244.3(MEN1):c.1089G>A (p.Glu363=) rs776834299
NM_000244.3(MEN1):c.1095C>T (p.Ile365=) rs147331514
NM_000244.3(MEN1):c.1098C>T (p.Tyr366=) rs1168237114
NM_000244.3(MEN1):c.1146G>A (p.Lys382=) rs1555164674
NM_000244.3(MEN1):c.114C>G (p.Ser38=) rs1252317486
NM_000244.3(MEN1):c.115T>C (p.Leu39=) rs863224438
NM_000244.3(MEN1):c.1164G>A (p.Leu388=) rs1555164667
NM_000244.3(MEN1):c.1170G>A (p.Ala390=) rs201091135
NM_000244.3(MEN1):c.1182G>C (p.Arg394=) rs1194388602
NM_000244.3(MEN1):c.1185G>A (p.Pro395=) rs587780841
NM_000244.3(MEN1):c.1185G>C (p.Pro395=) rs587780841
NM_000244.3(MEN1):c.1201-6G>A rs576193460
NM_000244.3(MEN1):c.1201-7C>T rs587780842
NM_000244.3(MEN1):c.1201-8del rs1555164452
NM_000244.3(MEN1):c.1201-9C>T rs1555164455
NM_000244.3(MEN1):c.1206C>T (p.Thr402=) rs1166154585
NM_000244.3(MEN1):c.1218T>C (p.Gly406=) rs878855187
NM_000244.3(MEN1):c.1221C>A (p.Ser407=) rs770037856
NM_000244.3(MEN1):c.1221C>T (p.Ser407=) rs770037856
NM_000244.3(MEN1):c.1245C>T (p.Phe415=) rs878855188
NM_000244.3(MEN1):c.1266C>T (p.Tyr422=) rs751481164
NM_000244.3(MEN1):c.1302G>A (p.Thr434=) rs376598079
NM_000244.3(MEN1):c.1302G>T (p.Thr434=) rs376598079
NM_000244.3(MEN1):c.1329C>G (p.Thr443=) rs897481809
NM_000244.3(MEN1):c.132G>T (p.Val44=) rs1555166691
NM_000244.3(MEN1):c.1366-10A>G rs757569943
NM_000244.3(MEN1):c.1366-4C>T rs764408631
NM_000244.3(MEN1):c.1366-6G>A rs1555164004
NM_000244.3(MEN1):c.1393C>A (p.Arg465=) rs104894267
NM_000244.3(MEN1):c.1401C>A (p.Ala467=) rs771827808
NM_000244.3(MEN1):c.1401C>G (p.Ala467=) rs771827808
NM_000244.3(MEN1):c.1401C>T (p.Ala467=) rs771827808
NM_000244.3(MEN1):c.1407G>A (p.Ala469=) rs754445482
NM_000244.3(MEN1):c.1410C>T (p.Ala470=) rs748820252
NM_000244.3(MEN1):c.1416C>T (p.Ala472=) rs878855190
NM_000244.3(MEN1):c.1419G>A (p.Glu473=) rs755734265
NM_000244.3(MEN1):c.1424C>T (p.Pro475Leu) rs750112288
NM_000244.3(MEN1):c.1425G>A (p.Pro475=) rs1060503795
NM_000244.3(MEN1):c.1443G>C (p.Arg481=) rs1555163730
NM_000244.3(MEN1):c.1458G>A (p.Arg486=) rs864622641
NM_000244.3(MEN1):c.1473G>A (p.Glu491=) rs1413990417
NM_000244.3(MEN1):c.1488G>A (p.Glu496=) rs1555163642
NM_000244.3(MEN1):c.1494G>A (p.Pro498=) rs546721780
NM_000244.3(MEN1):c.1497G>A (p.Pro499=) rs773363654
NM_000244.3(MEN1):c.1509A>T (p.Pro503=) rs1037335560
NM_000244.3(MEN1):c.1533C>T (p.Thr511=) rs749265222
NM_000244.3(MEN1):c.153C>T (p.Asn51=) rs1555166669
NM_000244.3(MEN1):c.1560C>A (p.Pro520=) rs1555163491
NM_000244.3(MEN1):c.1593C>A (p.Ala531=) rs767655504
NM_000244.3(MEN1):c.15C>A (p.Ala5=) rs757821521
NM_000244.3(MEN1):c.1623G>A (p.Gln541=) rs1055457298
NM_000244.3(MEN1):c.162C>T (p.Ile54=) rs1555166662
NM_000244.3(MEN1):c.1650G>A (p.Pro550=) rs1349729840
NM_000244.3(MEN1):c.1656G>A (p.Glu552=) rs1555163295
NM_000244.3(MEN1):c.165T>A (p.Pro55=) rs1060503790
NM_000244.3(MEN1):c.1671T>C (p.Thr557=) rs143423552
NM_000244.3(MEN1):c.1707G>T (p.Leu569=) rs367581776
NM_000244.3(MEN1):c.1710G>T (p.Leu570=) rs767677287
NM_000244.3(MEN1):c.1716C>T (p.Ala572=) rs757417271
NM_000244.3(MEN1):c.1755G>C (p.Thr585=) rs1114167530
NM_000244.3(MEN1):c.1764G>C (p.Ser588=) rs765105348
NM_000244.3(MEN1):c.1773G>A (p.Gln591=) rs759563305
NM_000244.3(MEN1):c.1779G>A (p.Lys593=) rs373669288
NM_000244.3(MEN1):c.1794C>T (p.Ser598=) rs1157546350
NM_000244.3(MEN1):c.1815G>T (p.Leu605=) rs148825200
NM_000244.3(MEN1):c.1821C>T (p.Phe607=) rs1060503794
NM_000244.3(MEN1):c.183C>A (p.Leu61=) rs1555166622
NM_000244.3(MEN1):c.18C>T (p.Ala6=) rs369348210
NM_000244.3(MEN1):c.195C>A (p.Pro65=) rs1438097332
NM_000244.3(MEN1):c.201C>T (p.Pro67=) rs1060503791
NM_000244.3(MEN1):c.240G>T (p.Val80=) rs1555166545
NM_000244.3(MEN1):c.249G>A (p.Leu83=) rs386134252
NM_000244.3(MEN1):c.282C>T (p.Thr94=) rs760442763
NM_000244.3(MEN1):c.300C>G (p.Ala100=) rs773136972
NM_000244.3(MEN1):c.303C>T (p.Val101=) rs1463347315
NM_000244.3(MEN1):c.307C>T (p.Leu103=) rs1313314117
NM_000244.3(MEN1):c.30G>T (p.Leu10=) rs371192390
NM_000244.3(MEN1):c.330G>C (p.Gly110=) rs1060503792
NM_000244.3(MEN1):c.333T>C (p.Gly111=) rs1555166432
NM_000244.3(MEN1):c.339C>T (p.Ser113=) rs559635859
NM_000244.3(MEN1):c.345T>C (p.Arg115=) rs748948131
NM_000244.3(MEN1):c.369T>C (p.Asp123=) rs1555166369
NM_000244.3(MEN1):c.375A>C (p.Ile125=) rs184896922
NM_000244.3(MEN1):c.375A>T (p.Ile125=) rs184896922
NM_000244.3(MEN1):c.426C>T (p.Ser142=) rs753252650
NM_000244.3(MEN1):c.441C>T (p.Ile147=) rs878855193
NM_000244.3(MEN1):c.461-9C>A rs1371109251
NM_000244.3(MEN1):c.480C>T (p.Ser160=) rs936786553
NM_000244.3(MEN1):c.486G>A (p.Val162=) rs878855194
NM_000244.3(MEN1):c.489C>T (p.Ala163=) rs772526802
NM_000244.3(MEN1):c.48C>T (p.Ile16=) rs1060503797
NM_000244.3(MEN1):c.507C>T (p.Ala169=) rs146759807
NM_000244.3(MEN1):c.527G>A (p.Arg176Gln) rs607969
NM_000244.3(MEN1):c.528G>C (p.Arg176=) rs560870111
NM_000244.3(MEN1):c.540C>T (p.Leu180=) rs200155578
NM_000244.3(MEN1):c.546G>A (p.Leu182=) rs146568011
NM_000244.3(MEN1):c.54C>T (p.Asp18=) rs1316973259
NM_000244.3(MEN1):c.585G>A (p.Gly195=) rs547249181
NM_000244.3(MEN1):c.600G>A (p.Glu200=) rs864622177
NM_000244.3(MEN1):c.60G>C (p.Val20=) rs776432516
NM_000244.3(MEN1):c.624C>T (p.Asn208=) rs749844029
NM_000244.3(MEN1):c.636G>A (p.Arg212=) rs779966911
NM_000244.3(MEN1):c.654C>T (p.Ala218=) rs746067825
NM_000244.3(MEN1):c.669+10C>T rs921850475
NM_000244.3(MEN1):c.669+9C>A rs202134234
NM_000244.3(MEN1):c.669+9C>G rs202134234
NM_000244.3(MEN1):c.669+9C>T rs202134234
NM_000244.3(MEN1):c.670-4del rs748005956
NM_000244.3(MEN1):c.670-5dupC rs772016629
NM_000244.3(MEN1):c.670-6C>A rs77461664
NM_000244.3(MEN1):c.670-6C>G rs77461664
NM_000244.3(MEN1):c.700C>T (p.Arg234Cys) rs754378887
NM_000244.3(MEN1):c.726G>A (p.Ala242=) rs144677807
NM_000244.3(MEN1):c.735G>T (p.Val245=) rs1555165534
NM_000244.3(MEN1):c.741C>T (p.Ala247=) rs1198651608
NM_000244.3(MEN1):c.744C>T (p.Ile248=) rs1353237754
NM_000244.3(MEN1):c.768C>T (p.Thr256=) rs763326062
NM_000244.3(MEN1):c.774G>T (p.Ser258=) rs201829546
NM_000244.3(MEN1):c.777G>A (p.Leu259=) rs199909967
NM_000244.3(MEN1):c.798+7G>A rs1060503793
NM_000244.3(MEN1):c.799-10C>T rs71526470
NM_000244.3(MEN1):c.799-16C>T rs754257177
NM_000244.3(MEN1):c.834G>T (p.Leu278=) rs748369241
NM_000244.3(MEN1):c.840-8T>C rs1555165330
NM_000244.3(MEN1):c.843C>T (p.Tyr281=) rs1060503789
NM_000244.3(MEN1):c.852C>T (p.Ala284=) rs762092675
NM_000244.3(MEN1):c.858G>C (p.Gly286=) rs562620826
NM_000244.3(MEN1):c.871C>T (p.Leu291=) rs542321016
NM_000244.3(MEN1):c.87A>C (p.Arg29=) rs1198070818
NM_000244.3(MEN1):c.924C>T (p.His308=) rs878855200
NM_000244.3(MEN1):c.928-4C>T rs770413697
NM_000244.3(MEN1):c.936C>T (p.Ala312=) rs1060503788
NM_000244.3(MEN1):c.978C>T (p.Tyr326=) rs1555165094
NM_000244.3(MEN1):c.993C>T (p.Gly331=) rs1555165071
NM_000254.2(MTR):c.1080A>G (p.Leu360=) rs141861479
NM_000254.2(MTR):c.2622G>A (p.Pro874=) rs141919148
NM_000255.3(MMUT):c.754-7delT rs750770186
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser) rs200908035
NM_000267.3(NF1):c.*1164G>A rs140110377
NM_000267.3(NF1):c.*125del rs397754615
NM_000267.3(NF1):c.*2089G>A rs17881973
NM_000267.3(NF1):c.*2201G>A rs7406983
NM_000267.3(NF1):c.*2215_*2219del rs201032889
NM_000267.3(NF1):c.*2829T>C rs1048317
NM_000267.3(NF1):c.*498T>G rs9900729
NM_000267.3(NF1):c.*4T>C rs201044568
NM_000267.3(NF1):c.*871A>T rs568276164
NM_000267.3(NF1):c.*873A>T rs3058624
NM_000267.3(NF1):c.-22G>C rs556823296
NM_000267.3(NF1):c.102C>T (p.Val34=) rs760823948
NM_000267.3(NF1):c.105T>C (p.Ser35=) rs370026303
NM_000267.3(NF1):c.1062+7T>C rs979521240
NM_000267.3(NF1):c.107C>G (p.Thr36Ser) rs199966218
NM_000267.3(NF1):c.1089A>G (p.Pro363=) rs757508086
NM_000267.3(NF1):c.1113A>C (p.Ala371=) rs786201652
NM_000267.3(NF1):c.111G>A (p.Glu37=) rs1555604893
NM_000267.3(NF1):c.1131T>C (p.Ile377=) rs1555610993
NM_000267.3(NF1):c.1137C>T (p.Cys379=) rs139648455
NM_000267.3(NF1):c.1170C>T (p.Asn390=) rs769004910
NM_000267.3(NF1):c.1173C>T (p.Asn391=) rs367986994
NM_000267.3(NF1):c.1176A>G (p.Gln392=) rs566220983
NM_000267.3(NF1):c.1182T>C (p.Phe394=) rs786202581
NM_000267.3(NF1):c.1185+7G>A rs1322791959
NM_000267.3(NF1):c.1185+7G>C rs1322791959
NM_000267.3(NF1):c.1186-4A>G rs769295150
NM_000267.3(NF1):c.1186-6C>T rs200684215
NM_000267.3(NF1):c.1248A>T (p.Arg416=) rs1403345664
NM_000267.3(NF1):c.1260+9A>G rs1060503908
NM_000267.3(NF1):c.1263C>T (p.Ser421=) rs767410768
NM_000267.3(NF1):c.127C>T (p.Leu43=) rs1060503913
NM_000267.3(NF1):c.1296G>A (p.Val432=) rs371599283
NM_000267.3(NF1):c.129A>C (p.Leu43=) rs759576680
NM_000267.3(NF1):c.1356A>G (p.Gln452=) rs1324833228
NM_000267.3(NF1):c.1359T>C (p.Gly453=) rs1555611595
NM_000267.3(NF1):c.1371C>T (p.His457=) rs1318894606
NM_000267.3(NF1):c.1374A>G (p.Pro458=) rs1555611601
NM_000267.3(NF1):c.1389A>G (p.Ala463=) rs1131923
NM_000267.3(NF1):c.1392+10A>G rs1060503886
NM_000267.3(NF1):c.1392+7T>C rs773017698
NM_000267.3(NF1):c.1393-9T>C rs1314978150
NM_000267.3(NF1):c.1431T>C (p.Phe477=) rs1555612278
NM_000267.3(NF1):c.1450C>T (p.Leu484=) rs876657544
NM_000267.3(NF1):c.1458A>G (p.Thr486=) rs878853866
NM_000267.3(NF1):c.1479C>G (p.Leu493=) rs139653388
NM_000267.3(NF1):c.1527+7A>T rs1555612295
NM_000267.3(NF1):c.1528-10T>C rs376174484
NM_000267.3(NF1):c.1528-9T>C rs1060503916
NM_000267.3(NF1):c.153T>C (p.Phe51=) rs1057523892
NM_000267.3(NF1):c.1541A>C (p.Gln514Pro) rs775369084
NM_000267.3(NF1):c.1545G>T (p.Gly515=) rs876658203
NM_000267.3(NF1):c.1548C>G (p.Pro516=) rs768883989
NM_000267.3(NF1):c.1548C>T (p.Pro516=) rs768883989
NM_000267.3(NF1):c.1554C>A (p.Thr518=) rs876660849
NM_000267.3(NF1):c.1569A>G (p.Ala523=) rs1555612830
NM_000267.3(NF1):c.1581A>C (p.Thr527=) rs1060503907
NM_000267.3(NF1):c.1587C>T (p.Leu529=) rs786203041
NM_000267.3(NF1):c.1593A>G (p.Gln531=) rs773712266
NM_000267.3(NF1):c.1599C>G (p.Val533=) rs369458366
NM_000267.3(NF1):c.1641+7G>C rs1060503887
NM_000267.3(NF1):c.1641+8G>C rs758022528
NM_000267.3(NF1):c.1650G>C (p.Leu550=) rs1555613190
NM_000267.3(NF1):c.1677T>C (p.Asp559=) rs1209447028
NM_000267.3(NF1):c.168C>T (p.Ser56=) rs17881168
NM_000267.3(NF1):c.1701A>G (p.Val567=) rs786203819
NM_000267.3(NF1):c.1707A>G (p.Thr569=) rs1060503898
NM_000267.3(NF1):c.171C>A (p.Gly57=) rs876658709
NM_000267.3(NF1):c.171C>T (p.Gly57=) rs876658709
NM_000267.3(NF1):c.1722-6C>G rs878853869
NM_000267.3(NF1):c.1722-6C>T rs878853869
NM_000267.3(NF1):c.1764T>C (p.His588=) rs1229784876
NM_000267.3(NF1):c.1806A>G (p.Glu602=) rs370454753
NM_000267.3(NF1):c.1866T>C (p.Cys622=) rs753245823
NM_000267.3(NF1):c.1869C>T (p.His623=) rs1555613556
NM_000267.3(NF1):c.1875C>T (p.Leu625=) rs974172157
NM_000267.3(NF1):c.1884C>T (p.Tyr628=) rs555635097
NM_000267.3(NF1):c.1887G>A (p.Gly629=) rs1555613561
NM_000267.3(NF1):c.1901T>C (p.Ile634Thr) rs527563505
NM_000267.3(NF1):c.1902T>A (p.Ile634=) rs1555613566
NM_000267.3(NF1):c.1917T>C (p.Asn639=) rs876659976
NM_000267.3(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_000267.3(NF1):c.1944A>G (p.Glu648=) rs1465016257
NM_000267.3(NF1):c.1953A>G (p.Leu651=) rs1298717179
NM_000267.3(NF1):c.1974C>A (p.Leu658=) rs751318331
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2001+7T>C rs878853870
NM_000267.3(NF1):c.2002-9G>T rs376197466
NM_000267.3(NF1):c.2010A>G (p.Ala670=) rs786202440
NM_000267.3(NF1):c.2019C>T (p.Cys673=) rs146624509
NM_000267.3(NF1):c.2028C>G (p.Thr676=) rs878853873
NM_000267.3(NF1):c.2031C>G (p.Pro677=) rs753177596
NM_000267.3(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_000267.3(NF1):c.204+9T>C rs771989896
NM_000267.3(NF1):c.2061A>G (p.Leu687=) rs143671377
NM_000267.3(NF1):c.2085G>A (p.Leu695=) rs1060503889
NM_000267.3(NF1):c.2097C>T (p.Asp699=) rs547905840
NM_000267.3(NF1):c.2118C>T (p.Ala706=) rs1156646242
NM_000267.3(NF1):c.2130C>T (p.Phe710=) rs1555613806
NM_000267.3(NF1):c.2133C>T (p.Arg711=) rs148085908
NM_000267.3(NF1):c.2142T>C (p.Cys714=) rs141382637
NM_000267.3(NF1):c.2175A>G (p.Glu725=) rs1555613817
NM_000267.3(NF1):c.2181A>G (p.Ser727=) rs1203116843
NM_000267.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131
NM_000267.3(NF1):c.2199C>A (p.Pro733=) rs1555613826
NM_000267.3(NF1):c.2224G>T (p.Ala742Ser) rs587781896
NM_000267.3(NF1):c.2226C>G (p.Ala742=) rs1060503912
NM_000267.3(NF1):c.2232C>G (p.Val744=) rs748865537
NM_000267.3(NF1):c.2235C>T (p.Ser745=) rs1060503901
NM_000267.3(NF1):c.2238T>C (p.Asn746=) rs768161162
NM_000267.3(NF1):c.2250A>G (p.Thr750=) rs876659061
NM_000267.3(NF1):c.2251+9G>T rs772014402
NM_000267.3(NF1):c.2271A>G (p.Lys757=) rs1555613916
NM_000267.3(NF1):c.2284C>T (p.Leu762=) rs370762336
NM_000267.3(NF1):c.2325+7C>T rs1555613937
NM_000267.3(NF1):c.2326-8C>T rs878853874
NM_000267.3(NF1):c.2355A>G (p.Glu785=) rs876658622
NM_000267.3(NF1):c.2358A>G (p.Gln786=) rs762346437
NM_000267.3(NF1):c.235T>C (p.Leu79=) rs764855221
NM_000267.3(NF1):c.2361A>G (p.Ala787=) rs371589922
NM_000267.3(NF1):c.237A>G (p.Leu79=) rs752208826
NM_000267.3(NF1):c.2415T>G (p.Ala805=) rs1555614182
NM_000267.3(NF1):c.2445G>A (p.Arg815=) rs1555614186
NM_000267.3(NF1):c.2457T>C (p.His819=) rs976466916
NM_000267.3(NF1):c.2490C>T (p.Asp830=) rs786201629
NM_000267.3(NF1):c.2502A>G (p.Leu834=) rs953405312
NM_000267.3(NF1):c.2514C>T (p.Ile838=) rs863224352
NM_000267.3(NF1):c.2541T>C (p.Leu847=) rs147433258
NM_000267.3(NF1):c.2544G>A (p.Gly848=) rs17883704
NM_000267.3(NF1):c.2547A>C (p.Gly849=) rs748303121
NM_000267.3(NF1):c.2550G>A (p.Val850=) rs772148227
NM_000267.3(NF1):c.2550G>T (p.Val850=) rs772148227
NM_000267.3(NF1):c.2556C>T (p.Leu852=) rs771308677
NM_000267.3(NF1):c.2583A>G (p.Ala861=) rs1060503891
NM_000267.3(NF1):c.2592C>T (p.Ser864=) rs761499485
NM_000267.3(NF1):c.2619T>C (p.Arg873=) rs766212733
NM_000267.3(NF1):c.2622G>A (p.Lys874=) rs77917884
NM_000267.3(NF1):c.2640G>A (p.Val880=) rs786202443
NM_000267.3(NF1):c.264T>C (p.Asp88=) rs1359209770
NM_000267.3(NF1):c.2658C>T (p.Asn886=) rs781549970
NM_000267.3(NF1):c.2694G>C (p.Leu898=) rs1060503923
NM_000267.3(NF1):c.2709G>T (p.Val903=) rs771820789
NM_000267.3(NF1):c.2736A>G (p.Gln912=) rs760097413
NM_000267.3(NF1):c.2742G>A (p.Arg914=) rs1555614324
NM_000267.3(NF1):c.276A>G (p.Lys92=) rs1060503900
NM_000267.3(NF1):c.2781T>G (p.Pro927=) rs1555614337
NM_000267.3(NF1):c.2805C>T (p.Asn935=) rs1060503894
NM_000267.3(NF1):c.2838C>T (p.Asp946=) rs147188807
NM_000267.3(NF1):c.2841C>T (p.Ser947=) rs1555614355
NM_000267.3(NF1):c.2850+10T>G rs771916458
NM_000267.3(NF1):c.2851-10C>G rs1555614412
NM_000267.3(NF1):c.2856A>G (p.Leu952=) rs750488772
NM_000267.3(NF1):c.288+10T>G rs1364620059
NM_000267.3(NF1):c.2928T>C (p.Thr976=) rs1555614446
NM_000267.3(NF1):c.2990+7A>G rs1555614465
NM_000267.3(NF1):c.2990+7A>T rs1555614465
NM_000267.3(NF1):c.2991-6A>G rs1191095886
NM_000267.3(NF1):c.3000T>C (p.Arg1000=) rs764332485
NM_000267.3(NF1):c.3024A>G (p.Ala1008=) rs779490777
NM_000267.3(NF1):c.3039G>A (p.Thr1013=) rs876660168
NM_000267.3(NF1):c.3045G>A (p.Leu1015=) rs926335233
NM_000267.3(NF1):c.3063A>C (p.Val1021=) rs768611775
NM_000267.3(NF1):c.3081T>C (p.Asp1027=) rs1555614532
NM_000267.3(NF1):c.3111T>C (p.Phe1037=) rs200240170
NM_000267.3(NF1):c.3114-4A>G rs201550230
NM_000267.3(NF1):c.3114-4A>T rs201550230
NM_000267.3(NF1):c.3192T>C (p.Leu1064=) rs1555614649
NM_000267.3(NF1):c.3195A>G (p.Thr1065=) rs1555614650
NM_000267.3(NF1):c.3198-4_3198-3insTC rs864622717
NM_000267.3(NF1):c.3198-4_3198-3insTTC rs864622717
NM_000267.3(NF1):c.3198-4_3198-3insTTTC rs864622717
NM_000267.3(NF1):c.3198-5T>C rs587782639
NM_000267.3(NF1):c.3198A>G (p.Arg1066=) rs864622469
NM_000267.3(NF1):c.3225A>G (p.Ala1075=) rs746022492
NM_000267.3(NF1):c.3246T>C (p.Gly1082=) rs876660670
NM_000267.3(NF1):c.3300A>G (p.Ser1100=) rs1060503915
NM_000267.3(NF1):c.3303G>A (p.Gln1101=) rs876659944
NM_000267.3(NF1):c.3315-8T>C rs764783865
NM_000267.3(NF1):c.3340T>C (p.Leu1114=) rs1555614928
NM_000267.3(NF1):c.3375G>A (p.Ala1125=) rs112589561
NM_000267.3(NF1):c.3375G>T (p.Ala1125=) rs112589561
NM_000267.3(NF1):c.340C>T (p.Leu114=) rs7207410
NM_000267.3(NF1):c.3417A>C (p.Ala1139=) rs864622524
NM_000267.3(NF1):c.3417A>T (p.Ala1139=) rs864622524
NM_000267.3(NF1):c.3420A>G (p.Ser1140=) rs1555614961
NM_000267.3(NF1):c.3435G>A (p.Thr1145=) rs772432150
NM_000267.3(NF1):c.3438C>T (p.Val1146=) rs876659646
NM_000267.3(NF1):c.3484A>G (p.Met1162Val) rs773968270
NM_000267.3(NF1):c.3496+19T>C rs9890283
NM_000267.3(NF1):c.3496+7T>C rs1060503921
NM_000267.3(NF1):c.3513G>A (p.Lys1171=) rs765438014
NM_000267.3(NF1):c.3519C>T (p.Leu1173=) rs1555615020
NM_000267.3(NF1):c.3534A>G (p.Thr1178=) rs876658210
NM_000267.3(NF1):c.3549G>C (p.Leu1183=) rs1051842
NM_000267.3(NF1):c.354C>T (p.Cys118=) rs768777585
NM_000267.3(NF1):c.3564A>G (p.Gln1188=) rs777859444
NM_000267.3(NF1):c.3619A>C (p.Arg1207=) rs202208560
NM_000267.3(NF1):c.3636C>A (p.Val1212=) rs145126193
NM_000267.3(NF1):c.3639A>G (p.Thr1213=) rs1555615069
NM_000267.3(NF1):c.3648T>A (p.Gly1216=) rs1060503897
NM_000267.3(NF1):c.366C>T (p.His122=) rs138952888
NM_000267.3(NF1):c.3672G>A (p.Ala1224=) rs151293900
NM_000267.3(NF1):c.3686A>G (p.Asn1229Ser) rs140523180
NM_000267.3(NF1):c.3690G>T (p.Val1230=) rs183296277
NM_000267.3(NF1):c.369C>G (p.Thr123=) rs146691765
NM_000267.3(NF1):c.369C>T (p.Thr123=) rs146691765
NM_000267.3(NF1):c.36C>A (p.Ala12=) rs786203866
NM_000267.3(NF1):c.36C>T (p.Ala12=) rs786203866
NM_000267.3(NF1):c.3708+7G>A rs1555615115
NM_000267.3(NF1):c.3709-10T>C rs878853887
NM_000267.3(NF1):c.3709-8G>C rs767650263
NM_000267.3(NF1):c.3726T>A (p.Val1242=) rs878853888
NM_000267.3(NF1):c.3727C>T (p.Leu1243=) rs750993436
NM_000267.3(NF1):c.372T>C (p.Cys124=) rs1555606078
NM_000267.3(NF1):c.3756A>G (p.Leu1252=) rs1298630862
NM_000267.3(NF1):c.3766C>T (p.Leu1256=) rs876659360
NM_000267.3(NF1):c.3843C>T (p.Ala1281=) rs150426576
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000267.3(NF1):c.3871-4G>C rs558421445
NM_000267.3(NF1):c.3891A>G (p.Leu1297=) rs753036396
NM_000267.3(NF1):c.3903G>A (p.Leu1301=) rs876660789
NM_000267.3(NF1):c.3906T>C (p.Asp1302=) rs549058591
NM_000267.3(NF1):c.3939T>C (p.Asp1313=) rs864622325
NM_000267.3(NF1):c.393A>C (p.Ala131=) rs761086521
NM_000267.3(NF1):c.3974+9T>A rs368586596
NM_000267.3(NF1):c.3990G>A (p.Glu1330=) rs863224353
NM_000267.3(NF1):c.4020T>C (p.Leu1340=) rs863224354
NM_000267.3(NF1):c.4071C>T (p.Phe1357=) rs747272290
NM_000267.3(NF1):c.4077T>C (p.Pro1359=) rs1555617366
NM_000267.3(NF1):c.4095C>T (p.Cys1365=) rs1060503922
NM_000267.3(NF1):c.4110+10C>T rs776277455
NM_000267.3(NF1):c.4110+9A>T rs1555617387
NM_000267.3(NF1):c.4111-8_4111-6del rs751729752
NM_000267.3(NF1):c.4125T>A (p.Arg1375=) rs1555618496
NM_000267.3(NF1):c.4143C>T (p.Ile1381=) rs864622406
NM_000267.3(NF1):c.4146T>C (p.Gly1382=) rs761772247
NM_000267.3(NF1):c.4167C>T (p.Phe1389=) rs750213850
NM_000267.3(NF1):c.417T>C (p.Ser139=) rs762434870
NM_000267.3(NF1):c.4188C>T (p.Ala1396=) rs1555618524
NM_000267.3(NF1):c.4194C>T (p.Val1398=) rs886038395
NM_000267.3(NF1):c.4200G>A (p.Pro1400=) rs201648604
NM_000267.3(NF1):c.4200G>T (p.Pro1400=) rs201648604
NM_000267.3(NF1):c.4209A>T (p.Ala1403=) rs753182376
NM_000267.3(NF1):c.4221T>C (p.Asp1407=) rs1555618550
NM_000267.3(NF1):c.4227G>A (p.Lys1409=) rs373086572
NM_000267.3(NF1):c.4233A>C (p.Pro1411=) rs864622492
NM_000267.3(NF1):c.4242C>T (p.Ile1414=) rs779865988
NM_000267.3(NF1):c.4248G>A (p.Arg1416=) rs1060503896
NM_000267.3(NF1):c.4269+8A>G rs773883353
NM_000267.3(NF1):c.4299C>T (p.Leu1433=) rs864622298
NM_000267.3(NF1):c.4368-8T>C rs1555618801
NM_000267.3(NF1):c.4371T>C (p.Phe1457=) rs1310523976
NM_000267.3(NF1):c.4392T>C (p.Asp1464=) rs186556778
NM_000267.3(NF1):c.4416T>C (p.Asn1472=) rs1060503888
NM_000267.3(NF1):c.4437T>C (p.Ser1479=) rs775018971
NM_000267.3(NF1):c.4440C>T (p.Asp1480=) rs577394398
NM_000267.3(NF1):c.4497G>A (p.Gln1499=) rs1555618859
NM_000267.3(NF1):c.450C>T (p.Phe150=) rs202142624
NM_000267.3(NF1):c.4514+11C>G rs190614908
NM_000267.3(NF1):c.4514+9delT rs772339679
NM_000267.3(NF1):c.4515-5T>C rs772759508
NM_000267.3(NF1):c.4530T>C (p.Val1510=) rs773315342
NM_000267.3(NF1):c.4563T>C (p.Leu1521=) rs1555619012
NM_000267.3(NF1):c.4569A>G (p.Ala1523=) rs781741727
NM_000267.3(NF1):c.456A>C (p.Ala152=) rs377481833
NM_000267.3(NF1):c.456A>G (p.Ala152=) rs377481833
NM_000267.3(NF1):c.4572C>T (p.Tyr1524=) rs754023358
NM_000267.3(NF1):c.4584A>G (p.Pro1528=) rs1305841472
NM_000267.3(NF1):c.4602A>C (p.Ala1534=) rs786201457
NM_000267.3(NF1):c.4605T>C (p.Asp1535=) rs763874870
NM_000267.3(NF1):c.4608A>G (p.Thr1536=) rs876658990
NM_000267.3(NF1):c.4632C>T (p.Thr1544=) rs1555619045
NM_000267.3(NF1):c.4641G>A (p.Lys1547=) rs1424931932
NM_000267.3(NF1):c.4661+7T>C rs864622178
NM_000267.3(NF1):c.4662-5T>C rs1060503903
NM_000267.3(NF1):c.4686A>G (p.Glu1562=) rs144091165
NM_000267.3(NF1):c.468C>T (p.Arg156=) rs779074793
NM_000267.3(NF1):c.4740T>C (p.Ala1580=) rs148662566
NM_000267.3(NF1):c.4771A>C (p.Arg1591=) rs755137259
NM_000267.3(NF1):c.4788A>G (p.Gln1596=) rs150309802
NM_000267.3(NF1):c.479+7G>A rs778398666
NM_000267.3(NF1):c.4797T>C (p.Gly1599=) rs864622747
NM_000267.3(NF1):c.480-5T>C rs1555607069
NM_000267.3(NF1):c.4806G>A (p.Leu1602=) rs1555533279
NM_000267.3(NF1):c.4819T>C (p.Leu1607=) rs10512435
NM_000267.3(NF1):c.4824G>A (p.Leu1608=) rs368638966
NM_000267.3(NF1):c.4836A>G (p.Pro1612=) rs876658422
NM_000267.3(NF1):c.4866G>A (p.Val1622=) rs17880521
NM_000267.3(NF1):c.4869C>T (p.Asp1623=) rs1555533304
NM_000267.3(NF1):c.4881C>T (p.Thr1627=) rs759291615
NM_000267.3(NF1):c.48C>T (p.Arg16=) rs1315327163
NM_000267.3(NF1):c.4914C>G (p.Leu1638=) rs863224355
NM_000267.3(NF1):c.4941C>G (p.Gly1647=) rs751603479
NM_000267.3(NF1):c.4944T>C (p.Phe1648=) rs761807609
NM_000267.3(NF1):c.4950C>T (p.Tyr1650=) rs1060500255
NM_000267.3(NF1):c.4956C>T (p.Asn1652=) rs767699634
NM_000267.3(NF1):c.4962C>T (p.Ser1654=) rs17878418
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.4977T>C (p.Tyr1659=) rs1555533351
NM_000267.3(NF1):c.4995C>T (p.Val1665=) rs1315128684
NM_000267.3(NF1):c.504A>G (p.Ser168=) rs876658638
NM_000267.3(NF1):c.5076G>A (p.Gly1692=) rs786202181
NM_000267.3(NF1):c.5106A>G (p.Gln1702=) rs864622372
NM_000267.3(NF1):c.5128T>C (p.Leu1710=) rs876658602
NM_000267.3(NF1):c.5166T>C (p.Ala1722=) rs876657546
NM_000267.3(NF1):c.5187C>T (p.Asp1729=) rs1210732116
NM_000267.3(NF1):c.5193A>G (p.Lys1731=) rs1060503899
NM_000267.3(NF1):c.5205+7T>C rs772663607
NM_000267.3(NF1):c.5206-9A>G rs544515671
NM_000267.3(NF1):c.5223C>T (p.Val1741=) rs748566277
NM_000267.3(NF1):c.5259G>A (p.Gly1753=) rs201584313
NM_000267.3(NF1):c.525T>C (p.His175=) rs750358089
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5314C>T (p.Leu1772=) rs761676110
NM_000267.3(NF1):c.5334C>T (p.Phe1778=) rs878853901
NM_000267.3(NF1):c.5361G>A (p.Thr1787=) rs765841113
NM_000267.3(NF1):c.5373C>T (p.Phe1791=) rs864622640
NM_000267.3(NF1):c.5427C>T (p.Arg1809=) rs1245095693
NM_000267.3(NF1):c.5434C>T (p.Leu1812=) rs372932380
NM_000267.3(NF1):c.5445C>T (p.Pro1815=) rs786202557
NM_000267.3(NF1):c.5454C>A (p.Ile1818=) rs865839207
NM_000267.3(NF1):c.5493G>A (p.Gly1831=) rs763146785
NM_000267.3(NF1):c.5508C>T (p.Ile1836=) rs771837192
NM_000267.3(NF1):c.5511A>G (p.Ala1837=) rs760561904
NM_000267.3(NF1):c.5546+8T>C rs753289678
NM_000267.3(NF1):c.5556C>G (p.Ala1852=) rs786203335
NM_000267.3(NF1):c.5562T>C (p.Asn1854=) rs1275173622
NM_000267.3(NF1):c.5568G>A (p.Leu1856=) rs1555533844
NM_000267.3(NF1):c.5586C>T (p.Thr1862=) rs139696493
NM_000267.3(NF1):c.5595A>G (p.Leu1865=) rs1555533854
NM_000267.3(NF1):c.5601C>T (p.Ile1867=) rs373685150
NM_000267.3(NF1):c.5610G>A (p.Gln1870=) rs1555533857
NM_000267.3(NF1):c.5652C>T (p.Thr1884=) rs1060503892
NM_000267.3(NF1):c.5679A>T (p.Thr1893=) rs1555533874
NM_000267.3(NF1):c.5682G>T (p.Leu1894=) rs1234091349
NM_000267.3(NF1):c.5694G>A (p.Glu1898=) rs141077224
NM_000267.3(NF1):c.5706G>A (p.Thr1902=) rs780145472
NM_000267.3(NF1):c.5730T>C (p.Ile1910=) rs779114598
NM_000267.3(NF1):c.5749+8A>G rs372075322
NM_000267.3(NF1):c.5802T>C (p.Asn1934=) rs863224356
NM_000267.3(NF1):c.582G>A (p.Leu194=) rs786201846
NM_000267.3(NF1):c.5847A>G (p.Arg1949=) rs777021090
NM_000267.3(NF1):c.586+10_586+15delAATGTA rs1555607130
NM_000267.3(NF1):c.5862T>C (p.Leu1954=) rs375776474
NM_000267.3(NF1):c.5868G>A (p.Lys1956=) rs786201672
NM_000267.3(NF1):c.5871G>A (p.Leu1957=) rs535803385
NM_000267.3(NF1):c.5883C>T (p.Thr1961=) rs1555534423
NM_000267.3(NF1):c.5892A>G (p.Glu1964=) rs369043956
NM_000267.3(NF1):c.5895A>G (p.Lys1965=) rs1216926117
NM_000267.3(NF1):c.5898G>A (p.Gln1966=) rs757536610
NM_000267.3(NF1):c.5913T>C (p.Ile1971=) rs766233634
NM_000267.3(NF1):c.594A>T (p.Ala198=) rs138411879
NM_000267.3(NF1):c.5970A>C (p.Leu1990=) rs147995863
NM_000267.3(NF1):c.5970A>G (p.Leu1990=) rs147995863
NM_000267.3(NF1):c.5982C>A (p.Ile1994=) rs1433863184
NM_000267.3(NF1):c.5997A>G (p.Thr1999=) rs761889172
NM_000267.3(NF1):c.60+7G>C rs1060503895
NM_000267.3(NF1):c.6084+8C>T rs182709912
NM_000267.3(NF1):c.61-4delT rs551568608
NM_000267.3(NF1):c.61-9T>C rs780956522
NM_000267.3(NF1):c.6108A>T (p.Ile2036=) rs140733963
NM_000267.3(NF1):c.6123C>T (p.Cys2041=) rs1555534669
NM_000267.3(NF1):c.6126A>G (p.Leu2042=) rs1060503911
NM_000267.3(NF1):c.6129T>C (p.Ser2043=) rs765094377
NM_000267.3(NF1):c.6132A>C (p.Pro2044=) rs1060503920
NM_000267.3(NF1):c.6150A>G (p.Gln2050=) rs1060503910
NM_000267.3(NF1):c.6165T>C (p.Asp2055=) rs1555534682
NM_000267.3(NF1):c.6201G>A (p.Leu2067=) rs762751192
NM_000267.3(NF1):c.6216C>T (p.Ser2072=) rs1055695069
NM_000267.3(NF1):c.6234T>C (p.His2078=) rs751517473
NM_000267.3(NF1):c.623C>T (p.Ala208Val) rs758624540
NM_000267.3(NF1):c.624G>A (p.Ala208=) rs370184932
NM_000267.3(NF1):c.6252C>T (p.His2084=) rs145732909
NM_000267.3(NF1):c.6261T>C (p.Thr2087=) rs1555534728
NM_000267.3(NF1):c.6265T>C (p.Leu2089=) rs780230966
NM_000267.3(NF1):c.627G>A (p.Gln209=) rs1060503919
NM_000267.3(NF1):c.6282G>A (p.Pro2094=) rs779475182
NM_000267.3(NF1):c.628T>C (p.Leu210=) rs757812365
NM_000267.3(NF1):c.6297T>C (p.Ala2099=) rs371578074
NM_000267.3(NF1):c.6312G>A (p.Leu2104=) rs773467465
NM_000267.3(NF1):c.6315C>T (p.Val2105=) rs760941036
NM_000267.3(NF1):c.6324C>T (p.Ile2108=) rs786203078
NM_000267.3(NF1):c.6330C>T (p.His2110=) rs17881788
NM_000267.3(NF1):c.633A>G (p.Ala211=) rs876660800
NM_000267.3(NF1):c.6357T>C (p.His2119=) rs762803346
NM_000267.3(NF1):c.6364+10A>G rs763852229
NM_000267.3(NF1):c.6364+8C>T rs864622598
NM_000267.3(NF1):c.6365-6T>C rs772738883
NM_000267.3(NF1):c.6393T>C (p.Ser2131=) rs776897972
NM_000267.3(NF1):c.6417A>G (p.Lys2139=) rs1060503918
NM_000267.3(NF1):c.6465T>C (p.Ile2155=) rs147522129
NM_000267.3(NF1):c.6483C>T (p.Tyr2161=) rs876659768
NM_000267.3(NF1):c.6486G>A (p.Arg2162=) rs1028183407
NM_000267.3(NF1):c.6489C>T (p.Asp2163=) rs376808264
NM_000267.3(NF1):c.6495A>C (p.Ser2165=) rs753509749
NM_000267.3(NF1):c.6537A>C (p.Thr2179=) rs747576584
NM_000267.3(NF1):c.655-8A>G rs758089068
NM_000267.3(NF1):c.6561T>C (p.Ala2187=) rs746061888
NM_000267.3(NF1):c.6565T>C (p.Leu2189=) rs138265293
NM_000267.3(NF1):c.6580-4T>C rs1555534908
NM_000267.3(NF1):c.6580-8T>C rs752079977
NM_000267.3(NF1):c.6618C>T (p.Asp2206=) rs876659371
NM_000267.3(NF1):c.6681T>A (p.Ala2227=) rs878853910
NM_000267.3(NF1):c.6687T>C (p.Val2229=) rs762075320
NM_000267.3(NF1):c.6723G>A (p.Gly2241=) rs878853911
NM_000267.3(NF1):c.6756+4C>T rs755135948
NM_000267.3(NF1):c.6756+7G>C rs200532525
NM_000267.3(NF1):c.6757-5A>G rs1555535022
NM_000267.3(NF1):c.6757-7C>T rs1555535020
NM_000267.3(NF1):c.6757-8C>T rs1060503909
NM_000267.3(NF1):c.6759A>C (p.Ala2253=) rs1555535025
NM_000267.3(NF1):c.6771C>T (p.Cys2257=) rs149603406
NM_000267.3(NF1):c.6807G>T (p.Leu2269=) rs773658814
NM_000267.3(NF1):c.6816T>C (p.Ala2272=) rs761125983
NM_000267.3(NF1):c.6829C>T (p.Leu2277=) rs1555535049
NM_000267.3(NF1):c.6858+10G>A rs767166725
NM_000267.3(NF1):c.6858+9T>C rs1555535059
NM_000267.3(NF1):c.6859-5G>A rs1555535158
NM_000267.3(NF1):c.6859-8T>C rs191255643
NM_000267.3(NF1):c.6882C>G (p.Leu2294=) rs751893971
NM_000267.3(NF1):c.6942C>T (p.Thr2314=) rs2040793
NM_000267.3(NF1):c.6963G>A (p.Leu2321=) rs371581213
NM_000267.3(NF1):c.6963G>T (p.Leu2321=) rs371581213
NM_000267.3(NF1):c.6966T>C (p.His2322=) rs1555535187
NM_000267.3(NF1):c.6969T>C (p.Thr2323=) rs1201730858
NM_000267.3(NF1):c.696A>G (p.Thr232=) rs368691517
NM_000267.3(NF1):c.6999+8A>G rs864622468
NM_000267.3(NF1):c.6C>T (p.Ala2=) rs876660128
NM_000267.3(NF1):c.7000-6T>C rs780593077
NM_000267.3(NF1):c.7000-6delT rs756593267
NM_000267.3(NF1):c.7000-7_7000-6delTTinsC rs864622725
NM_000267.3(NF1):c.7000-9C>T rs1555535398
NM_000267.3(NF1):c.7023A>C (p.Ala2341=) rs1241296625
NM_000267.3(NF1):c.702G>A (p.Leu234=) rs1801052
NM_000267.3(NF1):c.7047C>T (p.His2349=) rs201881479
NM_000267.3(NF1):c.7095T>C (p.Phe2365=) rs876660271
NM_000267.3(NF1):c.7104A>C (p.Ala2368=) rs1555535447
NM_000267.3(NF1):c.7126+7A>G rs767151173
NM_000267.3(NF1):c.7126+8A>G rs750100211
NM_000267.3(NF1):c.7127-7T>G rs779081215
NM_000267.3(NF1):c.7128G>A (p.Gly2376=) rs773474652
NM_000267.3(NF1):c.7134G>A (p.Arg2378=) rs1555536017
NM_000267.3(NF1):c.7182A>G (p.Thr2394=) rs539553128
NM_000267.3(NF1):c.720T>C (p.Thr240=) rs1555608761
NM_000267.3(NF1):c.7212T>C (p.Asn2404=) rs1060503904
NM_000267.3(NF1):c.7221A>G (p.Lys2407=) rs1555536034
NM_000267.3(NF1):c.7235C>T (p.Thr2412Ile) rs755749772
NM_000267.3(NF1):c.7251C>T (p.Tyr2417=) rs1060500385
NM_000267.3(NF1):c.7258+8C>T rs1555536044
NM_000267.3(NF1):c.7259-10T>G rs759969966
NM_000267.3(NF1):c.7260T>G (p.Ala2420=) rs765750009
NM_000267.3(NF1):c.7263A>G (p.Leu2421=) rs753224880
NM_000267.3(NF1):c.7269A>G (p.Thr2423=) rs759005886
NM_000267.3(NF1):c.7281A>G (p.Glu2427=) rs374234848
NM_000267.3(NF1):c.7296C>T (p.Cys2432=) rs1555536126
NM_000267.3(NF1):c.730+10C>T rs750468471
NM_000267.3(NF1):c.730+8T>C rs1555608771
NM_000267.3(NF1):c.7320T>C (p.Leu2440=) rs1555536133
NM_000267.3(NF1):c.7365T>C (p.Tyr2455=) rs181397225
NM_000267.3(NF1):c.7374T>C (p.His2458=) rs1355368926
NM_000267.3(NF1):c.7386T>C (p.Pro2462=) rs878853916
NM_000267.3(NF1):c.7394+8G>T rs376147282
NM_000267.3(NF1):c.7395-7C>T rs758106590
NM_000267.3(NF1):c.7398A>C (p.Thr2466=) rs149924365
NM_000267.3(NF1):c.7407G>A (p.Glu2469=) rs1555536339
NM_000267.3(NF1):c.7416A>G (p.Pro2472=) rs144957306
NM_000267.3(NF1):c.7470C>T (p.Val2490=) rs760733171
NM_000267.3(NF1):c.7491C>G (p.Ala2497=) rs141897690
NM_000267.3(NF1):c.7507C>T (p.Leu2503=) rs1555536366
NM_000267.3(NF1):c.7518G>C (p.Gly2506=) rs1555536369
NM_000267.3(NF1):c.7533C>T (p.Ala2511=) rs864622517
NM_000267.3(NF1):c.7552+8T>C rs1555536383
NM_000267.3(NF1):c.7560G>A (p.Arg2520=) rs876660737
NM_000267.3(NF1):c.75A>C (p.Thr25=) rs768754175
NM_000267.3(NF1):c.7692C>T (p.Ser2564=) rs17881980
NM_000267.3(NF1):c.7707C>T (p.His2569=) rs1060503906
NM_000267.3(NF1):c.771T>C (p.Ala257=) rs766932517
NM_000267.3(NF1):c.7731G>A (p.Val2577=) rs1555536699
NM_000267.3(NF1):c.7770T>C (p.Thr2590=) rs786202445
NM_000267.3(NF1):c.7776G>A (p.Pro2592=) rs752218441
NM_000267.3(NF1):c.7776G>C (p.Pro2592=) rs752218441
NM_000267.3(NF1):c.7788G>A (p.Ala2596=) rs751273275
NM_000267.3(NF1):c.7788G>T (p.Ala2596=) rs751273275
NM_000267.3(NF1):c.7812A>G (p.Thr2604=) rs763646216
NM_000267.3(NF1):c.7818A>G (p.Val2606=) rs756880349
NM_000267.3(NF1):c.7824T>C (p.Tyr2608=) rs767860040
NM_000267.3(NF1):c.7847G>A (p.Arg2616Gln) rs560262404
NM_000267.3(NF1):c.7908-4T>G rs1555536865
NM_000267.3(NF1):c.7908-7C>A rs754359027
NM_000267.3(NF1):c.7908-8T>C rs766889741
NM_000267.3(NF1):c.7918T>C (p.Leu2640=) rs777848844
NM_000267.3(NF1):c.7923C>T (p.Asp2641=) rs876658550
NM_000267.3(NF1):c.7935C>T (p.Asn2645=) rs747307832
NM_000267.3(NF1):c.7938C>A (p.Thr2646=) rs876658475
NM_000267.3(NF1):c.7938C>T (p.Thr2646=) rs876658475
NM_000267.3(NF1):c.7939C>T (p.Leu2647=) rs1060503905
NM_000267.3(NF1):c.7977A>T (p.Pro2659=) rs749163014
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) rs201824349
NM_000267.3(NF1):c.804A>G (p.Pro268=) rs759964997
NM_000267.3(NF1):c.8051-70A>T rs192112633
NM_000267.3(NF1):c.8064T>C (p.Asn2688=) rs1555537015
NM_000267.3(NF1):c.8076G>A (p.Arg2692=) rs139527415
NM_000267.3(NF1):c.807A>G (p.Leu269=) rs1333394353
NM_000267.3(NF1):c.8088G>A (p.Pro2696=) rs2285895
NM_000267.3(NF1):c.8097+9A>C rs997202389
NM_000267.3(NF1):c.8098-7A>G rs767623039
NM_000267.3(NF1):c.8098-8C>T rs1425972521
NM_000267.3(NF1):c.8160G>A (p.Thr2720=) rs777755159
NM_000267.3(NF1):c.8160G>C (p.Thr2720=) rs777755159
NM_000267.3(NF1):c.8166G>A (p.Leu2722=) rs1060503917
NM_000267.3(NF1):c.819C>T (p.Leu273=) rs765595990
NM_000267.3(NF1):c.8233C>T (p.Leu2745=) rs749647961
NM_000267.3(NF1):c.8315-4C>T rs587782700
NM_000267.3(NF1):c.8315-6C>T rs761763159
NM_000267.3(NF1):c.8319C>T (p.Ile2773=) rs1060503890
NM_000267.3(NF1):c.8322C>T (p.Asp2774=) rs144635489
NM_000267.3(NF1):c.8331C>T (p.Asn2777=) rs376136174
NM_000267.3(NF1):c.8332G>A (p.Val2778Ile) rs377393842
NM_000267.3(NF1):c.834A>G (p.Pro278=) rs1318820078
NM_000267.3(NF1):c.8355C>T (p.Gly2785=) rs1555538535
NM_000267.3(NF1):c.8388C>T (p.Ser2796=) rs547090599
NM_000267.3(NF1):c.843C>A (p.Ile281=) rs146094856
NM_000267.3(NF1):c.8448G>A (p.Lys2816=) rs752398289
NM_000267.3(NF1):c.846G>A (p.Gln282=) rs138840528
NM_000267.3(NF1):c.861C>T (p.Asp287=) rs749949219
NM_000267.3(NF1):c.864G>C (p.Val288=) rs201181517
NM_000267.3(NF1):c.864G>T (p.Val288=) rs201181517
NM_000267.3(NF1):c.876C>T (p.Asn292=) rs786202811
NM_000267.3(NF1):c.87C>T (p.Asn29=) rs1060503914
NM_000267.3(NF1):c.889-6delC rs864622362
NM_000267.3(NF1):c.898C>T (p.Leu300=) rs786201926
NM_000267.3(NF1):c.930T>C (p.His310=) rs1555610865
NM_000267.3(NF1):c.942G>A (p.Arg314=) rs786203445
NM_000267.3(NF1):c.969C>T (p.Ala323=) rs786201462
NM_000267.3(NF1):c.96C>G (p.Thr32=) rs1555604886
NM_000272.3(NPHP1):c.1698-10delT rs779032904
NM_000272.3(NPHP1):c.728+8delA rs863224357
NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile) rs140469160
NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000272.4(NPHP1):c.156A>G (p.Leu52=) rs759699517
NM_000272.4(NPHP1):c.1602C>T (p.His534=) rs148809478
NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys) rs149887461
NM_000272.4(NPHP1):c.2097G>A (p.Gln699=) rs1553479835
NM_000272.4(NPHP1):c.2118G>A (p.Leu706=) rs144850331
NM_000272.4(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.4(NPHP1):c.39G>A (p.Leu13=) rs1553498753
NM_000272.4(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_000272.4(NPHP1):c.830G>A (p.Arg277Gln) rs143174377
NM_000276.4(OCRL):c.2427G>A (p.Gln809=) rs145277867
NM_000280.4(PAX6):c.-107C>T rs111270711
NM_000280.4(PAX6):c.-129+9G>A rs56139994
NM_000280.4(PAX6):c.-180A>G rs75563367
NM_000280.4(PAX6):c.-316-8C>G rs566281941
NM_000280.4(PAX6):c.1137A>C (p.Thr379=) rs143477661
NM_000280.4(PAX6):c.327G>A (p.Glu109=) rs114384476
NM_000280.4(PAX6):c.711G>A (p.Val237=) rs145329506
NM_000280.4(PAX6):c.831G>A (p.Gln277=) rs149053004
NM_000286.3(PEX12):c.*166C>A rs1037590
NM_000286.3(PEX12):c.*297T>C rs113891712
NM_000286.3(PEX12):c.*550_*552del rs147182821
NM_000286.3(PEX12):c.*569_*570del rs3031851
NM_000286.3(PEX12):c.*636T>C rs111424374
NM_000286.3(PEX12):c.-534C>T rs2278950
NM_000287.4(PEX6):c.*319C>T rs736158
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu) rs61732159
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.4(PEX6):c.2730G>A (p.Thr910=) rs774721609
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734
NM_000294.3(PHKG2):c.360A>G (p.Thr120=) rs149163610
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.5(SERPINA1):c.*1067G>A rs11628917
NM_000295.5(SERPINA1):c.*1331G>A rs11568814
NM_000295.5(SERPINA1):c.*1555C>T rs56325294
NM_000295.5(SERPINA1):c.*224G>A rs2073333
NM_000295.5(SERPINA1):c.*316G>T rs1243164
NM_000295.5(SERPINA1):c.*481G>A rs1243165
NM_000295.5(SERPINA1):c.*854T>C rs1051052
NM_000295.5(SERPINA1):c.*968T>C rs1243166
NM_000295.5(SERPINA1):c.1000A>G (p.Lys334Glu) rs1444508096
NM_000295.5(SERPINA1):c.1014T>A (p.Asn338Lys) rs371761828
NM_000295.5(SERPINA1):c.1027T>G (p.Ser343Ala) rs1400497428
NM_000295.5(SERPINA1):c.102G>T (p.Lys34Asn) rs864622049
NM_000295.5(SERPINA1):c.1064A>G (p.Lys355Arg) rs864622055
NM_000295.5(SERPINA1):c.1093G>T (p.Asp365Tyr) rs143370956
NM_000295.5(SERPINA1):c.1094A>T (p.Asp365Val) rs864622046
NM_000295.5(SERPINA1):c.1121C>A (p.Ala374Asp) rs1566748077
NM_000295.5(SERPINA1):c.1132G>A (p.Glu378Lys) rs1566747984
NM_000295.5(SERPINA1):c.1136C>A (p.Ala379Asp) rs1291036417
NM_000295.5(SERPINA1):c.1208C>T (p.Thr403Ile) rs778747339
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=) rs150784949
NM_000295.5(SERPINA1):c.180C>G (p.Ser60Arg) rs864622045
NM_000295.5(SERPINA1):c.188G>T (p.Arg63Leu) rs764726147
NM_000295.5(SERPINA1):c.199C>A (p.His67Asn) rs864622050
NM_000295.5(SERPINA1):c.297A>C (p.Glu99Asp) rs1566757757
NM_000295.5(SERPINA1):c.336G>A (p.Pro112=) rs753313462
NM_000295.5(SERPINA1):c.356G>T (p.Gly119Val) rs749295615
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=) rs20546
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=) rs147283849
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp) rs112030253
NM_000295.5(SERPINA1):c.538C>G (p.Gln180Glu) rs864622051
NM_000295.5(SERPINA1):c.631T>C (p.Tyr211His) rs864622052
NM_000295.5(SERPINA1):c.654G>T (p.Trp218Cys) rs1445192595
NM_000295.5(SERPINA1):c.664T>C (p.Phe222Leu) rs1555368744
NM_000295.5(SERPINA1):c.707A>G (p.Gln236Arg) rs746531546
NM_000295.5(SERPINA1):c.727C>T (p.Pro243Ser) rs1316729320
NM_000295.5(SERPINA1):c.735G>A (p.Met245Ile) rs864622053
NM_000295.5(SERPINA1):c.737A>C (p.Lys246Thr) rs864622054
NM_000295.5(SERPINA1):c.761A>G (p.Gln254Arg) rs1566753789
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) rs1049800
NM_000295.5(SERPINA1):c.878A>G (p.His293Arg) rs1281598461
NM_000295.5(SERPINA1):c.879C>G (p.His293Gln) rs141095970
NM_000295.5(SERPINA1):c.894G>T (p.Lys298Asn) rs957169128
NM_000295.5(SERPINA1):c.89A>T (p.Asp30Val) rs864622048
NM_000295.5(SERPINA1):c.907G>C (p.Glu303Gln) rs1802963
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=) rs150455534
NM_000297.4(PKD2):c.*1030G>A rs2725202
NM_000297.4(PKD2):c.*1237G>A rs10965
NM_000297.4(PKD2):c.*235dup rs200938134
NM_000297.4(PKD2):c.*256C>T rs2728121
NM_000297.4(PKD2):c.*837C>G rs77638442
NM_000297.4(PKD2):c.-26C>T rs530444554
NM_000297.4(PKD2):c.-82G>C rs529779778
NM_000297.4(PKD2):c.1354A>G (p.Ile452Val) rs1801612
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754
NM_000297.4(PKD2):c.1548+9G>C rs376901684
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000297.4(PKD2):c.420G>A (p.Gly140=) rs2728118
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr) rs117078377
NM_000297.4(PKD2):c.70C>T (p.Pro24Ser) rs786204221
NM_000297.4(PKD2):c.78G>T (p.Pro26=) rs899378635
NM_000297.4(PKD2):c.83G>C (p.Arg28Pro) rs1805044
NM_000318.3(PEX2):c.*1141G>A rs10108054
NM_000318.3(PEX2):c.*1696C>T rs112199677
NM_000318.3(PEX2):c.*1909G>T rs112352942
NM_000318.3(PEX2):c.*2142A>G rs79700176
NM_000318.3(PEX2):c.*2338C>T rs56231626
NM_000318.3(PEX2):c.*2446C>T rs73242165
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739
NM_000319.4(PEX5):c.*141G>A rs3813737
NM_000319.4(PEX5):c.*628G>A rs12316371
NM_000319.4(PEX5):c.*75G>A rs112966367
NM_000319.4(PEX5):c.*794_*795dup rs112785895
NM_000319.4(PEX5):c.815T>C (p.Met272Thr) rs76708142
NM_000336.2(SCNN1B):c.-150C>G rs530631658
NM_000336.3(SCNN1B):c.*20G>A rs755277136
NM_000336.3(SCNN1B):c.*278C>T rs549628659
NM_000336.3(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=) rs2303156
NM_000336.3(SCNN1B):c.1257C>T (p.Asp419=) rs2303155
NM_000336.3(SCNN1B):c.1270+14C>T rs141909058
NM_000336.3(SCNN1B):c.1346+8C>T rs200714599
NM_000336.3(SCNN1B):c.1401C>T (p.Ser467=) rs74012901
NM_000336.3(SCNN1B):c.1419C>T (p.His473=) rs193211556
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=) rs61759916
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=) rs541449814
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628
NM_000336.3(SCNN1B):c.1883T>A (p.Leu628Gln) rs72654356
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) rs61759917
NM_000336.3(SCNN1B):c.282C>T (p.Ala94=) rs139950628
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp) rs139310448
NM_000336.3(SCNN1B):c.777-5T>C rs61759915
NM_000339.3(SLC12A3):c.*1204T>C rs116537640
NM_000339.3(SLC12A3):c.*1301A>C rs9927820
NM_000339.3(SLC12A3):c.*1674C>T rs3812963
NM_000339.3(SLC12A3):c.*2068C>G rs142540870
NM_000339.3(SLC12A3):c.*2432T>C rs115344087
NM_000339.3(SLC12A3):c.*524del rs11347677
NM_000339.3(SLC12A3):c.*975A>G rs56079121
NM_000339.3(SLC12A3):c.1023C>T (p.Phe341=) rs2229209
NM_000339.3(SLC12A3):c.1395C>T (p.Thr465=) rs5801
NM_000339.3(SLC12A3):c.1825+9C>A rs35797045
NM_000339.3(SLC12A3):c.1865A>G (p.Asn622Ser) rs61746763
NM_000339.3(SLC12A3):c.1884G>A (p.Ser628=) rs5802
NM_000339.3(SLC12A3):c.2142C>T (p.Ala714=) rs5803
NM_000339.3(SLC12A3):c.2179-8C>T rs13306676
NM_000339.3(SLC12A3):c.2625C>T (p.Gly875=) rs5804
NM_000339.3(SLC12A3):c.2738G>A (p.Arg913Gln) rs11643718
NM_000339.3(SLC12A3):c.2748-13T>C rs34772420
NM_000339.3(SLC12A3):c.2782C>T (p.Arg928Cys) rs12708965
NM_000339.3(SLC12A3):c.366A>G (p.Ala122=) rs2304479
NM_000340.2(SLC2A2):c.*1059del rs139372968
NM_000340.2(SLC2A2):c.*234C>A rs79424762
NM_000340.2(SLC2A2):c.*356A>T rs7610064
NM_000340.2(SLC2A2):c.*474A>G rs114710971
NM_000340.2(SLC2A2):c.*476T>C rs75975646
NM_000340.2(SLC2A2):c.*725G>C rs79770697
NM_000340.2(SLC2A2):c.*909C>T rs77733690
NM_000340.2(SLC2A2):c.*930_*934del rs140350942
NM_000340.2(SLC2A2):c.1069-9T>C rs5407
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser) rs76362149
NM_000340.2(SLC2A2):c.496+6_496+7dup rs111737375
NM_000340.2(SLC2A2):c.496+7_496+8insCTCA rs746295534
NM_000341.4(SLC3A1):c.1136+3del rs796262035
NM_000349.3(STAR):c.*987A>G rs28361934
NM_000361.2(THBD):c.*1171C>G rs143450327
NM_000361.2(THBD):c.*1239G>A rs549574979
NM_000361.2(THBD):c.*1469C>T rs3176124
NM_000361.2(THBD):c.*1562G>T rs183647515
NM_000361.2(THBD):c.*158G>A rs3176121
NM_000361.2(THBD):c.*1770T>C rs113252822
NM_000361.2(THBD):c.*1993T>C rs3176136
NM_000361.2(THBD):c.*2129C>A rs372816835
NM_000361.2(THBD):c.*2143C>T rs3176126
NM_000361.2(THBD):c.*26C>T rs13306852
NM_000361.2(THBD):c.*321G>T rs56354707
NM_000361.2(THBD):c.*325T>C rs186669520
NM_000361.2(THBD):c.*338C>T rs536637715
NM_000361.2(THBD):c.*351A>G rs11696919
NM_000361.2(THBD):c.*41T>C rs377311614
NM_000361.2(THBD):c.*47C>T rs551028498
NM_000361.2(THBD):c.*497G>A rs3176122
NM_000361.2(THBD):c.*520C>G rs41282276
NM_000361.2(THBD):c.*759A>T rs73611750
NM_000361.2(THBD):c.-12C>T rs370548660
NM_000361.2(THBD):c.1208G>A (p.Arg403Lys) rs41400249
NM_000361.2(THBD):c.127G>A (p.Ala43Thr) rs1800576
NM_000361.2(THBD):c.1502C>T (p.Pro501Leu) rs1800579
NM_000361.2(THBD):c.40G>A (p.Gly14Ser) rs191884040
NM_000368.4(TSC1):c.*1050T>C rs530042727
NM_000368.4(TSC1):c.*1052G>A rs562950766
NM_000368.4(TSC1):c.*107T>C rs116917669
NM_000368.4(TSC1):c.*1468C>T rs72759433
NM_000368.4(TSC1):c.*1680G>A rs532372427
NM_000368.4(TSC1):c.*1785A>G rs74362385
NM_000368.4(TSC1):c.*1861G>A rs561511694
NM_000368.4(TSC1):c.*1902T>G rs142038787
NM_000368.4(TSC1):c.*198T>C rs7037703
NM_000368.4(TSC1):c.*2094G>A rs534649062
NM_000368.4(TSC1):c.*2109C>T rs73552808
NM_000368.4(TSC1):c.*2142T>C rs112314368
NM_000368.4(TSC1):c.*2168C>T rs532469694
NM_000368.4(TSC1):c.*2228G>A rs528833042
NM_000368.4(TSC1):c.*2418G>A rs114415181
NM_000368.4(TSC1):c.*2446A>G rs558966777
NM_000368.4(TSC1):c.*2461G>A rs73552806
NM_000368.4(TSC1):c.*2637C>G rs538802838
NM_000368.4(TSC1):c.*2638C>T rs373845353
NM_000368.4(TSC1):c.*2651G>T rs55660990
NM_000368.4(TSC1):c.*2708G>C rs150433809
NM_000368.4(TSC1):c.*2733A>G rs73552805
NM_000368.4(TSC1):c.*279T>G rs554637460
NM_000368.4(TSC1):c.*2872G>A rs2106345
NM_000368.4(TSC1):c.*2874G>A rs111832812
NM_000368.4(TSC1):c.*2893delA rs143549363
NM_000368.4(TSC1):c.*2904G>T rs559978998
NM_000368.4(TSC1):c.*295C>A rs113549339
NM_000368.4(TSC1):c.*295C>G rs113549339
NM_000368.4(TSC1):c.*3448C>T rs201092466
NM_000368.4(TSC1):c.*3538A>G rs533324867
NM_000368.4(TSC1):c.*358C>T rs147729052
NM_000368.4(TSC1):c.*3729G>T rs543396172
NM_000368.4(TSC1):c.*3830C>T rs544931538
NM_000368.4(TSC1):c.*3836G>A rs572231078
NM_000368.4(TSC1):c.*3952A>G rs114454155
NM_000368.4(TSC1):c.*3988G>A rs563835484
NM_000368.4(TSC1):c.*3997G>A rs148982924
NM_000368.4(TSC1):c.*4057G>A rs17149898
NM_000368.4(TSC1):c.*405A>G rs560193480
NM_000368.4(TSC1):c.*4254G>A rs139801034
NM_000368.4(TSC1):c.*4385G>T rs552453527
NM_000368.4(TSC1):c.*4631delT rs60000611
NM_000368.4(TSC1):c.*499C>T rs530003850
NM_000368.4(TSC1):c.*60T>G rs577329896
NM_000368.4(TSC1):c.*651C>G rs369911288
NM_000368.4(TSC1):c.*677G>C rs189890583
NM_000368.4(TSC1):c.*841C>T rs149902841
NM_000368.4(TSC1):c.*913C>T rs117425923
NM_000368.4(TSC1):c.*941A>G rs189368676
NM_000368.4(TSC1):c.-129A>T rs116951280
NM_000368.4(TSC1):c.-242G>T rs571288003
NM_000368.4(TSC1):c.-7C>T rs62621221
NM_000368.4(TSC1):c.-99C>T rs114755636
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1002G>A (p.Ser334=) rs200820603
NM_000368.4(TSC1):c.1006C>A (p.Arg336=) rs118203483
NM_000368.4(TSC1):c.1029+8G>A rs1036865129
NM_000368.4(TSC1):c.1038T>C (p.Leu346=) rs753360364
NM_000368.4(TSC1):c.1050T>C (p.Ser350=) rs150777389
NM_000368.4(TSC1):c.106+15A>G rs80258442
NM_000368.4(TSC1):c.106+9A>G rs1554820969
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1107G>A (p.Leu369=) rs909737447
NM_000368.4(TSC1):c.110G>A (p.Arg37His) rs750441497
NM_000368.4(TSC1):c.1110A>T (p.Ser370=) rs371648887
NM_000368.4(TSC1):c.1113C>T (p.His371=) rs771217333
NM_000368.4(TSC1):c.1141+10T>C rs367601694
NM_000368.4(TSC1):c.1142-9G>A rs1554817169
NM_000368.4(TSC1):c.114C>G (p.Gly38=) rs776158461
NM_000368.4(TSC1):c.1163T>C (p.Leu388Pro) rs377598226
NM_000368.4(TSC1):c.1167A>C (p.Gly389=) rs876660723
NM_000368.4(TSC1):c.1178C>T (p.Thr393Ile) rs201452238
NM_000368.4(TSC1):c.1191A>G (p.Pro397=) rs370281825
NM_000368.4(TSC1):c.1194C>G (p.Ala398=) rs1060504861
NM_000368.4(TSC1):c.1200C>G (p.Leu400=) rs767514820
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1248C>T (p.Val416=) rs777823426
NM_000368.4(TSC1):c.1251A>G (p.Thr417=) rs147127442
NM_000368.4(TSC1):c.1257C>A (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.1257C>G (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.1257C>T (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.1263+6_1263+8dupATC rs751182565
NM_000368.4(TSC1):c.1263+9C>T rs761837376
NM_000368.4(TSC1):c.1269G>A (p.Glu423=) rs1272450087
NM_000368.4(TSC1):c.1296A>C (p.Leu432=) rs1554816406
NM_000368.4(TSC1):c.1302A>G (p.Arg434=) rs907840461
NM_000368.4(TSC1):c.1305A>G (p.Gln435=) rs1334781311
NM_000368.4(TSC1):c.1317G>C (p.Leu439=) rs770692313
NM_000368.4(TSC1):c.1332A>G (p.Ser444=) rs773003016
NM_000368.4(TSC1):c.1338G>A (p.Glu446=) rs1410493156
NM_000368.4(TSC1):c.133T>C (p.Leu45=) rs755226092
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1344T>C (p.Pro448=) rs530908428
NM_000368.4(TSC1):c.1344T>G (p.Pro448=) rs530908428
NM_000368.4(TSC1):c.1439-10T>A rs1060504852
NM_000368.4(TSC1):c.1439-20_1439-9delGTTTCCTCTCTT rs1064792996
NM_000368.4(TSC1):c.1443A>C (p.Ala481=) rs1554816081
NM_000368.4(TSC1):c.1443A>G (p.Ala481=) rs1554816081
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1476A>C (p.Ala492=) rs1554816067
NM_000368.4(TSC1):c.1491G>A (p.Val497=) rs1554816056
NM_000368.4(TSC1):c.1503A>C (p.Gly501=) rs201810746
NM_000368.4(TSC1):c.1530C>T (p.Asp510=) rs1554816033
NM_000368.4(TSC1):c.1539A>G (p.Pro513=) rs755055358
NM_000368.4(TSC1):c.153A>C (p.Glu51Asp) rs118203342
NM_000368.4(TSC1):c.1563G>A (p.Ser521=) rs1554816005
NM_000368.4(TSC1):c.1581G>A (p.Gln527=) rs1554815989
NM_000368.4(TSC1):c.1584C>T (p.Gly528=) rs149439187
NM_000368.4(TSC1):c.159C>T (p.Ser53=) rs756335238
NM_000368.4(TSC1):c.1611C>T (p.His537=) rs898271020
NM_000368.4(TSC1):c.1614C>T (p.Ser538=) rs878853961
NM_000368.4(TSC1):c.1617C>T (p.Ser539=) rs1554815969
NM_000368.4(TSC1):c.1626G>A (p.Lys542=) rs756935981
NM_000368.4(TSC1):c.1631G>A (p.Gly544Glu) rs770570830
NM_000368.4(TSC1):c.1674C>T (p.Pro558=) rs878853962
NM_000368.4(TSC1):c.168G>A (p.Pro56=) rs781483110
NM_000368.4(TSC1):c.1701G>C (p.Ala567=) rs35478675
NM_000368.4(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
NM_000368.4(TSC1):c.1775C>T (p.Thr592Met) rs775869914
NM_000368.4(TSC1):c.1779A>G (p.Arg593=) rs964191879
NM_000368.4(TSC1):c.1794C>T (p.Ser598=) rs766438395
NM_000368.4(TSC1):c.1809G>A (p.Pro603=) rs112434645
NM_000368.4(TSC1):c.181C>T (p.Leu61=) rs752047592
NM_000368.4(TSC1):c.1848C>T (p.Ala616=) rs752286096
NM_000368.4(TSC1):c.1863C>T (p.Ile621=) rs898222579
NM_000368.4(TSC1):c.1869G>A (p.Lys623=) rs778556382
NM_000368.4(TSC1):c.1878G>A (p.Glu626=) rs753424167
NM_000368.4(TSC1):c.1879C>T (p.Leu627=) rs1171110012
NM_000368.4(TSC1):c.1882T>C (p.Leu628=) rs375534013
NM_000368.4(TSC1):c.1884A>G (p.Leu628=) rs1038140620
NM_000368.4(TSC1):c.1936A>G (p.Met646Val) rs145741748
NM_000368.4(TSC1):c.1944G>A (p.Val648=) rs1554815720
NM_000368.4(TSC1):c.1954C>T (p.Leu652=) rs747452647
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.1997+9C>T rs371043832
NM_000368.4(TSC1):c.1998-9dup rs1388433086
NM_000368.4(TSC1):c.2031C>A (p.Thr677=) rs1060504855
NM_000368.4(TSC1):c.2064C>T (p.Ile688=) rs878853963
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.211-10delA rs1060504859
NM_000368.4(TSC1):c.2115G>A (p.Glu705=) rs142662480
NM_000368.4(TSC1):c.2136T>C (p.His712=) rs1554815286
NM_000368.4(TSC1):c.2148C>T (p.Asn716=) rs1554815274
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2196T>C (p.His732=) rs776441369
NM_000368.4(TSC1):c.21C>T (p.Val7=) rs145987906
NM_000368.4(TSC1):c.2208+10G>T rs945077563
NM_000368.4(TSC1):c.2226A>G (p.Leu742=) rs397514878
NM_000368.4(TSC1):c.2235G>A (p.Lys745=) rs753265422
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.2286T>C (p.Asn762=) rs1554815010
NM_000368.4(TSC1):c.231C>T (p.Asn77=) rs397514809
NM_000368.4(TSC1):c.2322G>A (p.Lys774=) rs772038670
NM_000368.4(TSC1):c.2391+8C>T rs1554814904
NM_000368.4(TSC1):c.2392-7T>C rs1554814693
NM_000368.4(TSC1):c.2392-8_2392-7delTT rs1554814696
NM_000368.4(TSC1):c.2394G>A (p.Thr798=) rs1060504860
NM_000368.4(TSC1):c.2412G>A (p.Arg804=) rs1554814676
NM_000368.4(TSC1):c.2472T>G (p.Thr824=) rs762811821
NM_000368.4(TSC1):c.249C>T (p.Ala83=) rs145783693
NM_000368.4(TSC1):c.2502+8_2502+10delGAA rs762882968
NM_000368.4(TSC1):c.2508A>C (p.Ser836=) rs1554814456
NM_000368.4(TSC1):c.2511C>T (p.Asn837=) rs1554814448
NM_000368.4(TSC1):c.2517G>A (p.Glu839=) rs1554814437
NM_000368.4(TSC1):c.2520G>A (p.Ser840=) rs547498792
NM_000368.4(TSC1):c.2556G>C (p.Leu852=) rs770381040
NM_000368.4(TSC1):c.255T>C (p.Thr85=) rs1060504856
NM_000368.4(TSC1):c.2604C>T (p.Asn868=) rs147163264
NM_000368.4(TSC1):c.2613A>G (p.Ser871=) rs1031508405
NM_000368.4(TSC1):c.2626-3dupC rs1554813639
NM_000368.4(TSC1):c.2626-4T>C rs777386691
NM_000368.4(TSC1):c.2626-4_2626-3insTC rs1554813651
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2654G>A (p.Arg885Gln) rs200514807
NM_000368.4(TSC1):c.2658A>G (p.Lys886=) rs368212910
NM_000368.4(TSC1):c.2682T>C (p.His894=) rs771479673
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.273G>A (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.273G>C (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.2760C>T (p.Asp920=) rs1226490074
NM_000368.4(TSC1):c.2766T>G (p.Leu922=) rs546119844
NM_000368.4(TSC1):c.2778G>A (p.Gln926=) rs1554813423
NM_000368.4(TSC1):c.2781G>A (p.Lys927=) rs118203733
NM_000368.4(TSC1):c.2814-7C>T rs1060504851
NM_000368.4(TSC1):c.2814-9A>G rs878853965
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.2904G>A (p.Arg968=) rs1554813280
NM_000368.4(TSC1):c.2922C>T (p.Leu974=) rs769389702
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
NM_000368.4(TSC1):c.2934T>C (p.Leu978=) rs1554813253
NM_000368.4(TSC1):c.2940A>G (p.Glu980=) rs557674294
NM_000368.4(TSC1):c.2964A>G (p.Ala988=) rs1057520482
NM_000368.4(TSC1):c.2965G>T (p.Ala989Ser) rs537585211
NM_000368.4(TSC1):c.2968G>A (p.Glu990Lys) rs200398750
NM_000368.4(TSC1):c.2976-8T>G rs1060504858
NM_000368.4(TSC1):c.2982C>T (p.Asp994=) rs199919348
NM_000368.4(TSC1):c.3005A>T (p.Asp1002Val) rs202121327
NM_000368.4(TSC1):c.3060C>T (p.Thr1020=) rs1380396209
NM_000368.4(TSC1):c.3072C>T (p.Ser1024=) rs1554812912
NM_000368.4(TSC1):c.3075C>T (p.Ser1025=) rs765753157
NM_000368.4(TSC1):c.3079C>T (p.Arg1027Trp) rs375394001
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3112_3114AGC[8] (p.Ser1042_Ser1043dup) rs2234980
NM_000368.4(TSC1):c.3120C>T (p.Ser1040=) rs1289954163
NM_000368.4(TSC1):c.3125G>T (p.Ser1042Ile) rs148931779
NM_000368.4(TSC1):c.3144A>C (p.Pro1048=) rs1554812826
NM_000368.4(TSC1):c.3159C>T (p.His1053=) rs778413037
NM_000368.4(TSC1):c.3195G>A (p.Thr1065=) rs118203746
NM_000368.4(TSC1):c.3207A>G (p.Glu1069=) rs878853966
NM_000368.4(TSC1):c.3228C>T (p.Thr1076=) rs140622357
NM_000368.4(TSC1):c.3237C>T (p.Gly1079=) rs749995749
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3321C>T (p.Asp1107=) rs118203752
NM_000368.4(TSC1):c.3361C>T (p.Leu1121=) rs769478982
NM_000368.4(TSC1):c.3363G>C (p.Leu1121=) rs1060504857
NM_000368.4(TSC1):c.3373T>C (p.Leu1125=) rs1157060310
NM_000368.4(TSC1):c.3381G>A (p.Val1127=) rs773586317
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3396C>G (p.Pro1132=) rs774980129
NM_000368.4(TSC1):c.3396C>T (p.Pro1132=) rs774980129
NM_000368.4(TSC1):c.3420G>A (p.Pro1140=) rs763931959
NM_000368.4(TSC1):c.3426C>T (p.Pro1142=) rs758286878
NM_000368.4(TSC1):c.3429G>A (p.Pro1143=) rs759431801
NM_000368.4(TSC1):c.3429G>C (p.Pro1143=) rs759431801
NM_000368.4(TSC1):c.3435G>A (p.Pro1145=) rs140352085
NM_000368.4(TSC1):c.3453A>G (p.Leu1151=) rs1554812550
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.3489C>T (p.His1163=) rs1554812527
NM_000368.4(TSC1):c.364-7C>T rs775465260
NM_000368.4(TSC1):c.375C>T (p.Asp125=) rs560863078
NM_000368.4(TSC1):c.378C>T (p.Val126=) rs373173550
NM_000368.4(TSC1):c.45C>T (p.Asp15=) rs1457262106
NM_000368.4(TSC1):c.509-10C>T rs780670013
NM_000368.4(TSC1):c.51C>G (p.Pro17=) rs768175095
NM_000368.4(TSC1):c.531C>T (p.Leu177=) rs752615412
NM_000368.4(TSC1):c.540C>T (p.Leu180=) rs201562103
NM_000368.4(TSC1):c.549T>C (p.Ser183=) rs774398322
NM_000368.4(TSC1):c.555C>T (p.Tyr185=) rs118203398
NM_000368.4(TSC1):c.593A>G (p.Asn198Ser) rs577983115
NM_000368.4(TSC1):c.597C>T (p.Phe199=) rs202242304
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.72C>T (p.Asp24=) rs376527838
NM_000368.4(TSC1):c.737+10C>T rs1554819375
NM_000368.4(TSC1):c.738-10C>A rs768158324
NM_000368.4(TSC1):c.771C>T (p.Ile257=) rs1060504854
NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) rs118203450
NM_000368.4(TSC1):c.774G>A (p.Glu258=) rs1554817678
NM_000368.4(TSC1):c.798C>T (p.Pro266=) rs770704462
NM_000368.4(TSC1):c.804A>G (p.Glu268=) rs753895570
NM_000368.4(TSC1):c.813T>C (p.Tyr271=) rs118203452
NM_000368.4(TSC1):c.819T>G (p.Asp273Glu) rs148756522
NM_000368.4(TSC1):c.852C>T (p.Arg284=) rs769706203
NM_000368.4(TSC1):c.870C>T (p.Ala290=) rs779155575
NM_000368.4(TSC1):c.876C>T (p.Val292=) rs116756594
NM_000368.4(TSC1):c.879C>T (p.Thr293=) rs1554817584
NM_000368.4(TSC1):c.914-10T>C rs1554817441
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.942G>A (p.Thr314=) rs144208203
NM_000368.4(TSC1):c.951G>A (p.Leu317=) rs1554817419
NM_000368.4(TSC1):c.960A>G (p.Leu320=) rs770183315
NM_000368.4(TSC1):c.976C>T (p.Leu326=) rs1554817396
NM_000368.4(TSC1):c.978A>G (p.Leu326=) rs1060504862
NM_000368.4(TSC1):c.99C>T (p.Leu33=) rs757216373
NM_000369.2(TSHR):c.*1106G>T rs150923034
NM_000369.2(TSHR):c.*1152T>A rs2288494
NM_000369.2(TSHR):c.*1154dupT rs3214569
NM_000369.2(TSHR):c.*1222G>C rs2288495
NM_000369.2(TSHR):c.*1289A>G rs150122093
NM_000369.2(TSHR):c.*1417T>C rs2288496
NM_000369.2(TSHR):c.*1580A>G rs189084497
NM_000369.2(TSHR):c.*172C>A rs2268477
NM_000369.2(TSHR):c.*1813T>A rs58832257
NM_000369.2(TSHR):c.*182G>T rs373305430
NM_000369.2(TSHR):c.*18C>A rs77789619
NM_000369.2(TSHR):c.*245C>T rs7144481
NM_000369.2(TSHR):c.*431T>C rs17630128
NM_000369.2(TSHR):c.*474G>T rs61266735
NM_000369.2(TSHR):c.*728A>G rs73342245
NM_000369.2(TSHR):c.*909C>T rs2288493
NM_000369.2(TSHR):c.*960T>C rs142517342
NM_000369.2(TSHR):c.106G>C (p.Asp36His) rs61747482
NM_000369.2(TSHR):c.1377G>A (p.Ala459=) rs113951800
NM_000369.2(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000369.2(TSHR):c.2181G>C (p.Glu727Asp) rs1991517
NM_000369.2(TSHR):c.2232C>G (p.Asn744Lys) rs61743974
NM_000369.2(TSHR):c.545+13A>G rs2241119
NM_000369.2(TSHR):c.561T>C (p.Asn187=) rs2075179
NM_000369.2(TSHR):c.881+3A>G rs186091357
NM_000374.5(UROD):c.*3G>A rs74349352
NM_000374.5(UROD):c.-134T>G rs7536892
NM_000374.5(UROD):c.603A>G (p.Pro201=) rs2228084
NM_000374.5(UROD):c.758T>A (p.Leu253Gln) rs36033115
NM_000379.4(XDH):c.*1081A>G rs45488100
NM_000379.4(XDH):c.*41G>C rs45593434
NM_000379.4(XDH):c.*705_*706CT[1] rs10590467
NM_000379.4(XDH):c.*878T>C rs45532535
NM_000379.4(XDH):c.-66G>C rs36208390
NM_000379.4(XDH):c.1134C>T (p.Gly378=) rs45612738
NM_000379.4(XDH):c.1184A>T (p.Lys395Met) rs34929837
NM_000379.4(XDH):c.1509C>G (p.Gly503=) rs45612839
NM_000379.4(XDH):c.1686+8C>T rs17395224
NM_000379.4(XDH):c.1936A>G (p.Ile646Val) rs17323225
NM_000379.4(XDH):c.2107A>G (p.Ile703Val) rs17011368
NM_000379.4(XDH):c.3084C>T (p.Gly1028=) rs45604135
NM_000379.4(XDH):c.3717G>A (p.Glu1239=) rs207440
NM_000379.4(XDH):c.514G>A (p.Gly172Arg) rs45523133
NM_000379.4(XDH):c.627G>A (p.Glu209=) rs45575032
NM_000379.4(XDH):c.837C>T (p.Val279=) rs4407290
NM_000383.4(AIRE):c.1083C>G (p.Pro361=) rs201010030
NM_000383.4(AIRE):c.1215G>A (p.Pro405=) rs72650676
NM_000383.4(AIRE):c.1296G>A (p.Ala432=) rs144359012
NM_000383.4(AIRE):c.1344C>T (p.His448=) rs201131119
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000383.4(AIRE):c.1567-18C>T rs372108131
NM_000383.4(AIRE):c.426G>A (p.Ala142=) rs748305262
NM_000383.4(AIRE):c.653-5C>T rs771182213
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615
NM_000383.4(AIRE):c.798C>T (p.Pro266=) rs41277550
NM_000383.4(AIRE):c.880-451G>A rs267606153
NM_000434.4(NEU1):c.*210T>A rs13118
NM_000434.4(NEU1):c.*581G>A rs551222239
NM_000434.4(NEU1):c.-40T>G rs41267082
NM_000434.4(NEU1):c.263G>C (p.Gly88Ala) rs34712643
NM_000434.4(NEU1):c.486C>T (p.Ala162=) rs115588976
NM_000458.3(HNF1B):c.-178G>A rs148442901
NM_000458.3(HNF1B):c.-232C>T rs142612536
NM_000458.4(HNF1B):c.*403A>G rs557216745
NM_000458.4(HNF1B):c.*445A>G rs571607314
NM_000458.4(HNF1B):c.*683G>A rs144234352
NM_000458.4(HNF1B):c.*804T>C rs75361710
NM_000458.4(HNF1B):c.*938A>G rs574000398
NM_000458.4(HNF1B):c.-67C>T rs140699244
NM_000458.4(HNF1B):c.1045+12T>C rs141166864
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser) rs187556368
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys) rs144425830
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) rs140562402
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys) rs202151409
NM_000458.4(HNF1B):c.708C>T (p.Phe236=)
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) rs144249535
NM_000458.4(HNF1B):c.810-4C>G
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370
NM_000466.3(PEX1):c.-53C>G rs12386703
NM_000466.3(PEX1):c.129+10C>T rs886062508
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994
NM_000466.3(PEX1):c.358-11G>C rs113104510
NM_000485.2(APRT):c.-50C>A rs8191469
NM_000485.3(APRT):c.*3A>G rs2070256
NM_000485.3(APRT):c.*47T>C rs8191497
NM_000485.3(APRT):c.90G>T (p.Ser30=) rs8191472
NM_000485.3(APRT):c.97C>T (p.Leu33=) rs8191473
NM_000486.5(AQP2):c.*1218T>C rs376984675
NM_000486.5(AQP2):c.*1228T>G rs77904078
NM_000486.5(AQP2):c.*1395C>T rs140054228
NM_000486.5(AQP2):c.*2101C>T rs77661963
NM_000486.5(AQP2):c.*2250C>T rs296767
NM_000486.5(AQP2):c.*252G>A rs114099597
NM_000486.5(AQP2):c.*2795T>G rs1077521
NM_000486.5(AQP2):c.*907C>T rs60887132
NM_000486.5(AQP2):c.342G>A (p.Gly114=) rs35400945
NM_000486.5(AQP2):c.345C>T (p.Asp115=) rs60629501
NM_000486.5(AQP2):c.438C>T (p.Phe146=) rs143886391
NM_000492.3(CFTR):c.*1043A>C rs10234329
NM_000492.3(CFTR):c.*1251C>T rs1042180
NM_000492.3(CFTR):c.*1294G>A rs55831234
NM_000492.3(CFTR):c.*133delT rs145697705
NM_000492.3(CFTR):c.*325A>G rs17140308
NM_000492.3(CFTR):c.-461A>G rs185028612
NM_000492.3(CFTR):c.-4G>C rs369326781
NM_000492.3(CFTR):c.-812T>G rs181008242
NM_000492.3(CFTR):c.-8G>C rs1800501
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1117-31A>G rs1554381590
NM_000492.3(CFTR):c.1209+18A>C rs193922499
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1210-13G>T rs10229820
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1408G>A (p.Val470Met) rs213950
NM_000492.3(CFTR):c.1519A>G (p.Ile507Val) rs1801178
NM_000492.3(CFTR):c.1581A>G (p.Glu527=) rs1800094
NM_000492.3(CFTR):c.1584+11_1584+13dup rs1554384454
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
NM_000492.3(CFTR):c.1679+9C>G rs775440240
NM_000492.3(CFTR):c.1680-26T>C rs397508265
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1734A>G (p.Leu578=) rs201025424
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2475C>T (p.Asn825=) rs746961486
NM_000492.3(CFTR):c.2559T>C (p.Ile853=) rs1800104
NM_000492.3(CFTR):c.2562T>G (p.Thr854=) rs1042077
NM_000492.3(CFTR):c.2604A>G (p.Val868=) rs1800105
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.2620-26_2620-25insG rs776600589
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.274-6T>C rs371315549
NM_000492.3(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.3(CFTR):c.2832G>A (p.Val944=) rs193922512
NM_000492.3(CFTR):c.2835G>A (p.Ser945=) rs193922513
NM_000492.3(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3204C>T (p.Phe1068=) rs1800116
NM_000492.3(CFTR):c.3285A>T (p.Thr1095=) rs1800118
NM_000492.3(CFTR):c.3368-10G>A rs1060504847
NM_000492.3(CFTR):c.3368-19G>A rs374104839
NM_000492.3(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.3564G>A (p.Ser1188=) rs146804928
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.3759G>A (p.Leu1253=) rs117400534
NM_000492.3(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607
NM_000492.3(CFTR):c.3789T>C (p.Thr1263=) rs200921635
NM_000492.3(CFTR):c.3870A>G (p.Pro1290=) rs1800130
NM_000492.3(CFTR):c.3874-26dup rs1554396371
NM_000492.3(CFTR):c.393T>C (p.Phe131=) rs1039221071
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.406C>T (p.Leu136=) rs1351515691
NM_000492.3(CFTR):c.4092G>A (p.Ala1364=) rs148878126
NM_000492.3(CFTR):c.4095G>A (p.Lys1365=) rs759891255
NM_000492.3(CFTR):c.4243-20A>G rs138025486
NM_000492.3(CFTR):c.4243-7delT rs878854021
NM_000492.3(CFTR):c.4272C>T (p.Tyr1424=) rs1800135
NM_000492.3(CFTR):c.4296C>T (p.Asn1432=) rs761669740
NM_000492.3(CFTR):c.4377G>A (p.Lys1459=) rs1554397779
NM_000492.3(CFTR):c.4389G>A (p.Gln1463=) rs1800136
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.489+10C>G rs1447914513
NM_000492.3(CFTR):c.489+25A>G rs531830892
NM_000492.3(CFTR):c.489+87_489+88dup rs1554379931
NM_000492.3(CFTR):c.489+8T>C rs727504712
NM_000492.3(CFTR):c.489+8T>G rs727504712
NM_000492.3(CFTR):c.489+91A>G rs56094102
NM_000492.3(CFTR):c.490-26delT rs781120531
NM_000492.3(CFTR):c.589T>C (p.Leu197=) rs755619078
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.663G>A (p.Ala221=) rs758147990
NM_000492.3(CFTR):c.66A>G (p.Pro22=) rs748899228
NM_000492.3(CFTR):c.738G>A (p.Lys246=) rs35033453
NM_000492.3(CFTR):c.744-6T>G rs878854022
NM_000492.3(CFTR):c.744-9_744-6dupGATT rs1805171
NM_000492.3(CFTR):c.813T>G (p.Ser271=) rs1060504846
NM_000492.3(CFTR):c.853A>T (p.Ile285Phe) rs151073129
NM_000492.3(CFTR):c.869+11C>T rs1800503
NM_000492.3(CFTR):c.927C>G (p.Ala309=) rs1800084
NM_000492.3(CFTR):c.927C>T (p.Ala309=) rs1800084
NM_000492.3(CFTR):c.954G>A (p.Val318=) rs766189605
NM_000495.5(COL4A5):c.1855C>T (p.Pro619Ser) rs1569494314
NM_000495.5(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000495.5(COL4A5):c.4282C>A (p.Leu1428Met) rs1569508163
NM_000495.5(COL4A5):c.891+9T>G
NM_000497.3(CYP11B1):c.*1076C>T rs61752806
NM_000497.3(CYP11B1):c.*1138delA rs148110533
NM_000497.3(CYP11B1):c.*1258G>A rs61752808
NM_000497.3(CYP11B1):c.*1435T>C rs551125657
NM_000497.3(CYP11B1):c.*1512G>A rs61752814
NM_000497.3(CYP11B1):c.*1555del rs548944247
NM_000497.3(CYP11B1):c.*1622C>T rs543935807
NM_000497.3(CYP11B1):c.*1770A>T rs369448045
NM_000497.3(CYP11B1):c.*1871T>A rs61752818
NM_000497.3(CYP11B1):c.*193A>T rs61752798
NM_000497.3(CYP11B1):c.*400C>T rs61752801
NM_000497.3(CYP11B1):c.*468C>T rs114832894
NM_000497.3(CYP11B1):c.*613A>G rs1137480
NM_000497.3(CYP11B1):c.*634G>A rs1137481
NM_000497.3(CYP11B1):c.*718T>G rs189479208
NM_000497.3(CYP11B1):c.*848C>T rs149520110
NM_000497.3(CYP11B1):c.*857T>C rs370725779
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766
NM_000497.3(CYP11B1):c.1014G>A (p.Gln338=) rs151335623
NM_000497.3(CYP11B1):c.1042G>A (p.Ala348Thr) rs6407
NM_000497.3(CYP11B1):c.104T>C (p.Val35Ala) rs201951316
NM_000497.3(CYP11B1):c.1098T>G (p.Arg366=) rs61752769
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1144C>T (p.Leu382=) rs5293
NM_000497.3(CYP11B1):c.1353T>C (p.Leu451=) rs5316
NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238
NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) rs9657022
NM_000497.3(CYP11B1):c.375C>G (p.His125Gln) rs201137503
NM_000497.3(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201
NM_000497.3(CYP11B1):c.606G>A (p.Leu202=) rs61751154
NM_000497.3(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645
NM_000497.3(CYP11B1):c.823T>C (p.Tyr275His) rs141368413
NM_000497.3(CYP11B1):c.825T>C (p.Tyr275=) rs5290
NM_000497.3(CYP11B1):c.930A>G (p.Glu310=) rs148707144
NM_000498.3(CYP11B2):c.*1246_*1248del rs576148290
NM_000498.3(CYP11B2):c.*299G>A rs528171695
NM_000498.3(CYP11B2):c.*566C>T rs375938097
NM_000498.3(CYP11B2):c.*579T>C rs559136479
NM_000498.3(CYP11B2):c.*746G>A rs570202161
NM_000498.3(CYP11B2):c.-14G>C rs6440
NM_000498.3(CYP11B2):c.1016T>A (p.Ile339Asn) rs4544
NM_000498.3(CYP11B2):c.1021C>T (p.Arg341Cys) rs562670189
NM_000498.3(CYP11B2):c.1080C>T (p.Thr360=) rs142179598
NM_000498.3(CYP11B2):c.1098G>T (p.Arg366=) rs61757297
NM_000498.3(CYP11B2):c.1101G>A (p.Ala367=) rs371450047
NM_000498.3(CYP11B2):c.111G>A (p.Pro37=) rs5281
NM_000498.3(CYP11B2):c.1144T>C (p.Leu382=) rs61757295
NM_000498.3(CYP11B2):c.256C>G (p.Pro86Ala) rs200283987
NM_000498.3(CYP11B2):c.352G>A (p.Ala118Thr) rs372556807
NM_000498.3(CYP11B2):c.395+10G>A rs193166276
NM_000498.3(CYP11B2):c.424T>C (p.Leu142=) rs199988205
NM_000498.3(CYP11B2):c.476C>T (p.Pro159Leu) rs563073392
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=) rs375242946
NM_000498.3(CYP11B2):c.529C>T (p.Leu177=) rs577489337
NM_000498.3(CYP11B2):c.595+14G>A rs5307
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) rs113284476
NM_000498.3(CYP11B2):c.640C>G (p.His214Asp) rs551933154
NM_000498.3(CYP11B2):c.752A>G (p.Lys251Arg) rs752962897
NM_000498.3(CYP11B2):c.842A>G (p.Asn281Ser) rs4537
NM_000498.3(CYP11B2):c.867C>T (p.Ile289=) rs547347545
NM_000498.3(CYP11B2):c.89G>A (p.Arg30Gln) rs6441
NM_000498.3(CYP11B2):c.945C>T (p.Ser315=) rs759178574
NM_000498.3(CYP11B2):c.959C>T (p.Ala320Val) rs201830462
NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=) rs193922543
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=) rs193922545
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=) rs193922546
NM_000503.5(EYA1):c.*1914T>G rs112480709
NM_000503.6(EYA1):c.*1217_*1219TTA[1] rs574723016
NM_000503.6(EYA1):c.*1222A>C rs117394899
NM_000503.6(EYA1):c.*1263C>T rs140308724
NM_000503.6(EYA1):c.*1275G>A rs192113669
NM_000503.6(EYA1):c.*1310G>A rs147323889
NM_000503.6(EYA1):c.*1561_*1564ATCA[3] rs553875263
NM_000503.6(EYA1):c.*1890A>G rs377092983
NM_000503.6(EYA1):c.*23G>A rs373876510
NM_000503.6(EYA1):c.*353C>T rs151172668
NM_000503.6(EYA1):c.*705G>T rs79700717
NM_000503.6(EYA1):c.*784T>C rs77243350
NM_000503.6(EYA1):c.*86C>A rs186838732
NM_000503.6(EYA1):c.-191C>G rs55694100
NM_000503.6(EYA1):c.-340G>T rs55997623
NM_000503.6(EYA1):c.-454G>A rs569684779
NM_000503.6(EYA1):c.-49A>G rs773963094
NM_000503.6(EYA1):c.1141-15T>G rs186249248
NM_000503.6(EYA1):c.1200-11C>A rs181457812
NM_000503.6(EYA1):c.1258T>C (p.Leu420=) rs200074362
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960
NM_000503.6(EYA1):c.1475+15G>A rs373917012
NM_000503.6(EYA1):c.164C>T (p.Thr55Met) rs201434219
NM_000503.6(EYA1):c.1699-3C>T rs117149407
NM_000503.6(EYA1):c.1699-8T>C rs201537030
NM_000503.6(EYA1):c.648G>A (p.Pro216=) rs148973681
NM_000503.6(EYA1):c.743C>T (p.Thr248Met) rs186736708
NM_000503.6(EYA1):c.744G>A (p.Thr248=) rs10098224
NM_000503.6(EYA1):c.782C>T (p.Pro261Leu) rs77825059
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln) rs148647933
NM_000503.6(EYA1):c.923G>A (p.Arg308Gln) rs369822742
NM_000503.6(EYA1):c.966+4C>T rs139429307
NM_000512.5(GALNS):c.*224C>G rs111233947
NM_000512.5(GALNS):c.*296A>G rs79507351
NM_000512.5(GALNS):c.*524G>C rs3759946
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)