ClinVar Miner

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

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2494
Download table as spreadsheet
HGVS dbSNP
NM_000029.3(AGT):c.*629C>T rs2067853
NM_000029.3(AGT):c.-255G>A rs5049
NM_000029.3(AGT):c.-44G>A rs5051
NM_000029.4(AGT):c.*556C>A rs7079
NM_000029.4(AGT):c.1116A>G (p.Leu372=) rs7080
NM_000029.4(AGT):c.1125-13A>G rs1926723
NM_000029.4(AGT):c.803T>C (p.Met268Thr) rs699
NM_000030.3(AGXT):c.*289A>C rs4344931
NM_000030.3(AGXT):c.*41C>A rs4273214
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.165+40A>C rs57017537
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000031.6(ALAD):c.*1950G>A rs818706
NM_000031.6(ALAD):c.*471C>T rs818708
NM_000031.6(ALAD):c.168T>C (p.Tyr56=) rs1139488
NM_000033.3(ABCD1):c.*1035C>T rs6643782
NM_000033.4(ABCD1):c.*608G>A rs73640819
NM_000033.4(ABCD1):c.*877C>T rs11803
NM_000033.4(ABCD1):c.*894G>A rs1055847
NM_000033.4(ABCD1):c.*8G>C rs2229539
NM_000033.4(ABCD1):c.-59C>T rs4148030
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762
NM_000035.4(ALDOB):c.*1151A>G rs491979
NM_000035.4(ALDOB):c.*69C>T rs4577
NM_000038.6(APC):c.1458T>C (p.Tyr486=) rs2229992
NM_000053.4(ATP7B):c.*1782C>G rs928169
NM_000053.4(ATP7B):c.-75C>A rs2277448
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.4(ATP7B):c.1707+9T>C rs114449708
NM_000053.4(ATP7B):c.2448-25G>A rs9526811
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
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.3045G>A (p.Leu1015=) rs1801248
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.4(ATP7B):c.3903+6C>T rs2282057
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000054.6(AVPR2):c.*257G>A rs73627263
NM_000054.6(AVPR2):c.1113G>A (p.Ser371=) rs5203
NM_000054.6(AVPR2):c.125C>T (p.Ala42Val) rs5198
NM_000054.6(AVPR2):c.19A>T (p.Thr7Ser) rs5196
NM_000054.6(AVPR2):c.26-6T>G rs56689668
NM_000054.6(AVPR2):c.35G>A (p.Gly12Glu) rs2071126
NM_000054.6(AVPR2):c.440C>T (p.Ala147Val) rs5200
NM_000054.6(AVPR2):c.927A>G (p.Leu309=) rs5201
NM_000054.6(AVPR2):c.993C>T (p.Ser331=) rs5202
NM_000059.3(BRCA2):c.*105A>C rs15869
NM_000059.3(BRCA2):c.*369A>G rs7334543
NM_000059.3(BRCA2):c.*532A>G rs11571836
NM_000059.3(BRCA2):c.*839del rs75353978
NM_000059.3(BRCA2):c.-26G>A rs1799943
NM_000059.3(BRCA2):c.-52A>G rs206118
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1365A>G (p.Ser455=) rs1801439
NM_000059.3(BRCA2):c.2229T>C (p.His743=) rs1801499
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3396A>G (p.Lys1132=) rs1801406
NM_000059.3(BRCA2):c.3807T>C (p.Val1269=) rs543304
NM_000059.3(BRCA2):c.4563A>G (p.Leu1521=) rs206075
NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.3(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.3(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000059.3(BRCA2):c.7806-14T>C rs9534262
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000063.6(C2):c.1902+6G>C rs9332730
NM_000064.4(C3):c.1554C>A (p.Pro518=) rs2230203
NM_000064.4(C3):c.1692G>A (p.Val564=) rs2230204
NM_000064.4(C3):c.1836G>A (p.Thr612=) rs2230205
NM_000064.4(C3):c.2048-14_2048-13del rs140718871
NM_000064.4(C3):c.2246-8C>T rs406514
NM_000064.4(C3):c.2421G>C (p.Val807=) rs428453
NM_000064.4(C3):c.2430G>A (p.Ser810=) rs2230207
NM_000064.4(C3):c.2715C>T (p.Thr905=) rs2230208
NM_000064.4(C3):c.2745T>C (p.Ala915=) rs423490
NM_000064.4(C3):c.2863+7C>T rs2287845
NM_000064.4(C3):c.3753C>A (p.Pro1251=) rs2230209
NM_000064.4(C3):c.4311C>T (p.Ala1437=) rs7951
NM_000064.4(C3):c.4457-4G>A rs2277984
NM_000064.4(C3):c.4631-8C>T rs11569565
NM_000064.4(C3):c.4896C>T (p.Pro1632=) rs17030
NM_000064.4(C3):c.912G>A (p.Arg304=) rs2230201
NM_000064.4(C3):c.941C>T (p.Pro314Leu) rs1047286
NM_000067.2(CA2):c.-181A>T rs11261477
NM_000067.3(CA2):c.562T>C (p.Leu188=) rs703
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063
NM_000076.2(CDKN1C):c.-84G>A rs188494894
NM_000076.2(CDKN1C):c.353C>T (p.Pro118Leu) rs771731330
NM_000085.4(CLCNKB):c.641C>G (p.Ala214Gly) rs1889789
NM_000091.4(COL4A3):c.*1165G>A rs28554165
NM_000091.4(COL4A3):c.*1239C>G rs10188531
NM_000091.4(COL4A3):c.*2059C>G rs4290648
NM_000091.4(COL4A3):c.*2194A>C rs7567291
NM_000091.4(COL4A3):c.*2652G>A rs57817160
NM_000091.4(COL4A3):c.*2742C>T rs59257065
NM_000091.4(COL4A3):c.*315A>C rs2070735
NM_000091.4(COL4A3):c.*893C>T rs7587228
NM_000091.4(COL4A3):c.1195C>T (p.Leu399=) rs10205042
NM_000091.4(COL4A3):c.1223G>A (p.Arg408His) rs34505188
NM_000091.4(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.4(COL4A3):c.144+12C>A rs1882435
NM_000091.4(COL4A3):c.1452G>A (p.Gly484=) rs34019152
NM_000091.4(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984
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.422T>C (p.Leu141Pro) rs10178458
NM_000091.4(COL4A3):c.485A>G (p.Glu162Gly) rs6436669
NM_000091.4(COL4A3):c.805G>A (p.Glu269Lys) rs80109666
NM_000091.4(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767
NM_000092.4(COL4A4):c.*2120del rs56983325
NM_000092.4(COL4A4):c.*3187G>A rs56324594
NM_000092.4(COL4A4):c.*4322C>T rs1054413
NM_000092.4(COL4A4):c.*566del rs11314253
NM_000092.4(COL4A4):c.*774dup rs59918285
NM_000092.4(COL4A4):c.-2C>T rs2228558
NM_000092.4(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.17T>C (p.Ile6Thr) rs16823264
NM_000092.4(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.4(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517
NM_000092.4(COL4A4):c.3594G>A (p.Gly1198=) rs10203363
NM_000092.4(COL4A4):c.3684G>A (p.Lys1228=) rs2229812
NM_000092.4(COL4A4):c.3817+9G>C rs13423714
NM_000092.4(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.4(COL4A4):c.4080G>A (p.Pro1360=) rs2228556
NM_000092.4(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895
NM_000092.4(COL4A4):c.4523-8T>C rs13419076
NM_000092.4(COL4A4):c.4548A>G (p.Val1516=) rs2228555
NM_000092.4(COL4A4):c.4932C>T (p.Phe1644=) rs2228557
NM_000092.4(COL4A4):c.948T>C (p.Tyr316=) rs34509421
NM_000097.7(CPOX):c.*162A>C rs1051712
NM_000097.7(CPOX):c.*329G>C rs72924727
NM_000097.7(CPOX):c.*475T>A rs72924726
NM_000097.7(CPOX):c.*578_*579insTTCTTA rs3840202
NM_000097.7(CPOX):c.*679G>A rs72924722
NM_000097.7(CPOX):c.*927G>A rs7103
NM_000097.7(CPOX):c.1054C>T (p.Arg352Cys) rs11921054
NM_000097.7(CPOX):c.33C>T (p.Gly11=) rs60690253
NM_000097.7(CPOX):c.814A>C (p.Asn272His) rs1131857
NM_000097.7(CPOX):c.880G>A (p.Val294Ile) rs2228056
NM_000097.7(CPOX):c.990A>G (p.Glu330=) rs1729995
NM_000102.4(CYP17A1):c.-34T>C rs743572
NM_000102.4(CYP17A1):c.138C>T (p.His46=) rs6162
NM_000102.4(CYP17A1):c.195G>T (p.Ser65=) rs6163
NM_000135.4(FANCA):c.*154G>A rs1230
NM_000135.4(FANCA):c.*673A>G rs62704561
NM_000135.4(FANCA):c.*673del rs17233826
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359
NM_000135.4(FANCA):c.1826+15T>C rs1800337
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917
NM_000135.4(FANCA):c.2151+8T>C rs1800340
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.710-12A>G rs1800286
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823
NM_000136.3(FANCC):c.*1288T>C rs4647554
NM_000136.3(FANCC):c.*1871G>A rs4647558
NM_000136.3(FANCC):c.*5C>T rs117175949
NM_000136.3(FANCC):c.1329+306C>T
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000137.3(FAH):c.1021C>T (p.Arg341Trp) rs11555096
NM_000137.3(FAH):c.1180+4A>G rs60585303
NM_000137.3(FAH):c.267G>C (p.Leu89=) rs33929922
NM_000137.3(FAH):c.82-13G>A rs1370275
NM_000140.4(FECH):c.*117C>T rs8099115
NM_000140.4(FECH):c.*1287_*1288insTA rs59569925
NM_000140.4(FECH):c.*1622T>C rs78359676
NM_000140.4(FECH):c.*2371T>G rs1062010
NM_000140.4(FECH):c.*2451T>G rs55769459
NM_000140.4(FECH):c.*2461dup rs529946604
NM_000140.4(FECH):c.*248C>T rs8339
NM_000140.4(FECH):c.*2526T>C rs2723680
NM_000140.4(FECH):c.*2739T>C rs111695226
NM_000140.4(FECH):c.*2825A>G rs8090261
NM_000140.4(FECH):c.*3377G>T rs480942
NM_000140.4(FECH):c.*3601A>G rs73453635
NM_000140.4(FECH):c.*4106A>G rs72940306
NM_000140.4(FECH):c.*422T>A rs3760612
NM_000140.4(FECH):c.*4463A>G rs7228449
NM_000140.4(FECH):c.*4563G>T rs663774
NM_000140.4(FECH):c.*481A>G rs3760613
NM_000140.4(FECH):c.*4886T>G rs7238897
NM_000140.4(FECH):c.*4891dup rs146687823
NM_000140.4(FECH):c.*4971A>G rs114530851
NM_000140.4(FECH):c.*5588G>A rs78224804
NM_000140.4(FECH):c.*5628C>A rs13732
NM_000140.4(FECH):c.*696C>T rs76175837
NM_000140.4(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.4(FECH):c.287G>A (p.Arg96Gln) rs1041951
NM_000140.4(FECH):c.798C>G (p.Pro266=) rs536765
NM_000140.4(FECH):c.921A>G (p.Pro307=) rs536560
NM_000143.3(FH):c.1302C>T (p.Cys434=) rs2070080
NM_000143.3(FH):c.309C>T (p.Ala103=) rs10926501
NM_000143.3(FH):c.927G>A (p.Pro309=) rs61737760
NM_000151.4(G6PC):c.*1227dup rs397735497
NM_000151.4(G6PC):c.*1294C>A rs161620
NM_000151.4(G6PC):c.*1545_*1552TTTTAGAA[1] rs397717945
NM_000151.4(G6PC):c.*2088A>T rs9902963
NM_000151.4(G6PC):c.*2095T>A rs692180
NM_000151.4(G6PC):c.*23T>C rs2229611
NM_000154.2(GALK1):c.-22T>C
NM_000154.2(GALK1):c.189G>A (p.Leu63=) rs7211385
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.*203C>T rs75958979
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811
NM_000155.4(GALT):c.1059+36T>A rs111033820
NM_000155.4(GALT):c.117T>C (p.Asp39=) rs111033642
NM_000155.4(GALT):c.184C>A (p.Leu62Met) rs1800461
NM_000155.4(GALT):c.328+29G>C rs111033671
NM_000155.4(GALT):c.330A>T (p.Gly110=) rs111033672
NM_000155.4(GALT):c.33C>T (p.Arg11=) rs111033633
NM_000155.4(GALT):c.378-27G>C rs41274865
NM_000155.4(GALT):c.495C>T (p.Tyr165=) rs111033707
NM_000155.4(GALT):c.507+62G>A rs2277202
NM_000155.4(GALT):c.508-11C>A rs111033712
NM_000155.4(GALT):c.508-11C>G rs111033712
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000155.4(GALT):c.508-24G>A rs41274867
NM_000155.4(GALT):c.508-38T>C rs111033706
NM_000155.4(GALT):c.510C>T (p.Ile170=) rs61735984
NM_000155.4(GALT):c.564+15G>A rs111033732
NM_000155.4(GALT):c.564+32T>A rs111033733
NM_000155.4(GALT):c.583C>T (p.Leu195=) rs111033727
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.699C>A (p.Val233=) rs111033756
NM_000155.4(GALT):c.753C>T (p.Tyr251=) rs367543261
NM_000155.4(GALT):c.759A>N (p.Thr253=) rs1554709425
NM_000155.4(GALT):c.803C>A (p.Thr268Asn) rs111033847
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.820+23T>G rs111033771
NM_000155.4(GALT):c.821-46G>T rs111033776
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000155.4(GALT):c.954G>A (p.Leu318=) rs111033789
NM_000155.4(GALT):c.972T>C (p.Pro324=) rs111033793
NM_000168.6(GLI3):c.*1296T>C rs77126593
NM_000168.6(GLI3):c.*265dup rs550264781
NM_000168.6(GLI3):c.*2757C>T rs3823720
NM_000168.6(GLI3):c.*3004G>A rs3735361
NM_000168.6(GLI3):c.*3341dup rs138425063
NM_000168.6(GLI3):c.*428C>T rs2051935
NM_000168.6(GLI3):c.*741A>G rs114615136
NM_000168.6(GLI3):c.-42-11G>C rs80019165
NM_000168.6(GLI3):c.-94C>G rs112754065
NM_000168.6(GLI3):c.1356+11G>C rs846273
NM_000168.6(GLI3):c.1509C>T (p.Asn503=) rs34020684
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.2993C>T (p.Pro998Leu) rs929387
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.4071C>T (p.Tyr1357=) rs34089404
NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu) rs145419251
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414
NM_000168.6(GLI3):c.537C>T (p.His179=) rs3898405
NM_000168.6(GLI3):c.547A>G (p.Thr183Ala) rs846266
NM_000168.6(GLI3):c.900C>T (p.Ser300=) rs35961850
NM_000169.2(GLA):c.-10C>T rs2071225
NM_000169.2(GLA):c.-12G>A rs3027585
NM_000169.2(GLA):c.-30G>A rs3027584
NM_000169.2(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.2(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.2(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_000186.3(CFH):c.*178T>A rs488738
NM_000186.3(CFH):c.-195T>C rs35836460
NM_000186.3(CFH):c.1160-15T>C rs34815383
NM_000186.3(CFH):c.1204C>T (p.His402Tyr) rs1061170
NM_000186.3(CFH):c.1419G>A (p.Ala473=) rs2274700
NM_000186.3(CFH):c.184G>A (p.Val62Ile) rs800292
NM_000186.3(CFH):c.2016A>G (p.Gln672=) rs3753396
NM_000186.3(CFH):c.2669G>T (p.Ser890Ile) rs515299
NM_000186.3(CFH):c.2808G>T (p.Glu936Asp) rs1065489
NM_000186.3(CFH):c.3019G>T (p.Val1007Leu) rs534399
NM_000186.3(CFH):c.3138C>T (p.Thr1046=) rs61822181
NM_000186.3(CFH):c.3427C>G (p.Gln1143Glu) rs15809
NM_000186.3(CFH):c.921A>C (p.Ala307=) rs1061147
NM_000190.4(HMBS):c.-65C>T rs589925
NM_000190.4(HMBS):c.606G>T (p.Val202=) rs1131488
NM_000190.4(HMBS):c.613-19C>A rs1784304
NM_000190.4(HMBS):c.88-14G>A rs17075
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000191.3(HMGCL):c.*486G>A rs11714
NM_000196.4(HSD11B2):c.588G>A (p.Ala196=) rs5480
NM_000198.4(HSD3B2):c.*276C>T rs1819698
NM_000204.4(CFI):c.*112C>T rs551
NM_000204.4(CFI):c.*214A>G rs28361433
NM_000204.4(CFI):c.1217G>A (p.Arg406His) rs74817407
NM_000204.4(CFI):c.482+6C>T rs79375065
NM_000204.4(CFI):c.804G>A (p.Ser268=) rs2298749
NM_000204.4(CFI):c.884-7T>C rs140555685
NM_000213.5(ITGB4):c.*25C>T rs9367
NM_000213.5(ITGB4):c.4521C>G (p.Pro1507=) rs8669
NM_000213.5(ITGB4):c.5054-15A>G rs8078247
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro) rs871443
NM_000214.3(JAG1):c.*1132T>G rs7828
NM_000214.3(JAG1):c.*1206del rs34134142
NM_000214.3(JAG1):c.*1572A>G rs8708
NM_000214.3(JAG1):c.*486del rs3842434
NM_000214.3(JAG1):c.*856dup rs3840074
NM_000214.3(JAG1):c.-385T>G rs1051412
NM_000214.3(JAG1):c.-433G>A rs73611723
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) rs1051419
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) rs1051421
NM_000214.3(JAG1):c.440-15T>C rs2273060
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136
NM_000239.2(LYZ):c.*178C>T rs710794
NM_000239.2(LYZ):c.*655G>T rs8612
NM_000239.2(LYZ):c.*835C>T rs1384
NM_000239.2(LYZ):c.-1C>T rs513342
NM_000239.2(LYZ):c.263C>A (p.Thr88Asn) rs1800973
NM_000243.2(MEFV):c.1422G>A (p.Glu474=) rs224208
NM_000243.2(MEFV):c.1503C>T (p.Arg501=) rs76464258
NM_000243.2(MEFV):c.1530T>C (p.Asp510=) rs224206
NM_000243.2(MEFV):c.1759+8C>T rs77380520
NM_000243.2(MEFV):c.1764= (p.Pro588=) rs1231122
NM_000243.2(MEFV):c.306T>C (p.Asp102=) rs224225
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.495C>A (p.Ala165=) rs224223
NM_000243.2(MEFV):c.605G>A (p.Arg202Gln) rs224222
NM_000243.2(MEFV):c.942C>T (p.Arg314=) rs224213
NM_000244.3(MEN1):c.-22C>A rs374749001
NM_000244.3(MEN1):c.-23-16C>G rs509606
NM_000244.3(MEN1):c.1087_1089GAG[1] (p.Glu364del) rs1060499971
NM_000244.3(MEN1):c.1185G>A (p.Pro395=) rs587780841
NM_000244.3(MEN1):c.1269C>T (p.Asp423=) rs2071313
NM_000244.3(MEN1):c.435C>T (p.Ser145=) rs61736636
NM_000244.3(MEN1):c.526C>T (p.Arg176Trp) rs143329068
NM_000244.3(MEN1):c.527G>A (p.Arg176Gln) rs607969
NM_000244.3(MEN1):c.670-6C>A rs77461664
NM_000244.3(MEN1):c.928-42G>C rs529037188
NM_000254.2(MTR):c.*16del rs67705775
NM_000254.2(MTR):c.3496C>T (p.Leu1166=) rs12030699
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1595= (p.Arg532=) rs1141321
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728
NM_000255.4(MMUT):c.2011= (p.Ile671=) rs8589
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589
NM_000255.4(MMUT):c.636= (p.Lys212=) rs2229384
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384
NM_000267.3(NF1):c.*2265C>G rs1800845
NM_000267.3(NF1):c.*4T>C rs201044568
NM_000267.3(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_000267.3(NF1):c.2211A>T (p.Thr737=) rs1178560430
NM_000267.3(NF1):c.2252-31A>T rs141082540
NM_000267.3(NF1):c.2252-34T>C rs200937398
NM_000267.3(NF1):c.3198-4dup
NM_000267.3(NF1):c.3974+23A>T
NM_000267.3(NF1):c.4515-12dup
NM_000267.3(NF1):c.5172G>A (p.Lys1724=) rs17887014
NM_000267.3(NF1):c.7259-17C>T rs17884859
NM_000272.3(NPHP1):c.(?_-1)_(*1_?)dup
NM_000272.4(NPHP1):c.654G>A (p.Glu218=) rs11675767
NM_000276.4(OCRL):c.40-80dup
NM_000276.4(OCRL):c.439+3A>G rs61752971
NM_000280.4(PAX6):c.766-12C>T rs667773
NM_000286.3(PEX12):c.*517A>G rs1046321
NM_000286.3(PEX12):c.*836G>C rs10068
NM_000286.3(PEX12):c.*880_*883del rs35050283
NM_000286.3(PEX12):c.-428T>C rs321600
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802
NM_000287.3(PEX6):c.-55C>T rs9462859
NM_000287.4(PEX6):c.*438_*441TAAA[1] rs144286892
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858
NM_000287.4(PEX6):c.883-3T>C rs9986447
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469
NM_000292.3(PHKA2):c.2532G>A (p.Leu844=) rs61729452
NM_000292.3(PHKA2):c.718-3C>T rs140662042
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.5(SERPINA1):c.*1221A>G rs11832
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=) rs20546
NM_000295.5(SERPINA1):c.840T>C (p.Asp280=) rs1049800
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896
NM_000297.4(PKD2):c.2119-35T>C rs78885971
NM_000297.4(PKD2):c.2358+23G>A
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000297.4(PKD2):c.290_292AGG[7] (p.Glu102dup) rs750077647
NM_000297.4(PKD2):c.305_306insAGG (p.Val103_Glu104insGly)
NM_000297.4(PKD2):c.420G>A (p.Gly140=) rs2728118
NM_000297.4(PKD2):c.444C>T (p.Gly148=) rs181704860
NM_000297.4(PKD2):c.568G>A (p.Ala190Thr) rs117078377
NM_000297.4(PKD2):c.596-16C>T rs62310565
NM_000297.4(PKD2):c.710-29G>A
NM_000297.4(PKD2):c.83G>C (p.Arg28Pro) rs1805044
NM_000297.4(PKD2):c.844-22G>A rs2725221
NM_000318.3(PEX2):c.*1194A>G rs4311633
NM_000318.3(PEX2):c.*2377A>G rs4388434
NM_000318.3(PEX2):c.*2663T>A rs28435921
NM_000318.3(PEX2):c.*727T>C rs4610720
NM_000318.3(PEX2):c.-164C>A rs12718
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg) rs10087163
NM_000319.5(PEX5):c.1537-44_1537-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA
NM_000319.5(PEX5):c.551+113_551+114dup
NM_000336.3(SCNN1B):c.1325G>T (p.Gly442Val) rs1799980
NM_000336.3(SCNN1B):c.1467-14G>A rs34618783
NM_000336.3(SCNN1B):c.279T>C (p.Pro93=) rs238547
NM_000336.3(SCNN1B):c.879C>T (p.Phe293=) rs250563
NM_000339.3(SLC12A3):c.*1524C>T rs3812964
NM_000339.3(SLC12A3):c.*1851A>G rs37029
NM_000339.3(SLC12A3):c.*205A>G rs5805
NM_000339.3(SLC12A3):c.*404C>T rs37031
NM_000339.3(SLC12A3):c.*516T>A rs11861555
NM_000339.3(SLC12A3):c.*664G>C rs5808
NM_000339.3(SLC12A3):c.*931C>T rs37030
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.1670-8T>C rs2304483
NM_000339.3(SLC12A3):c.1825+9C>A rs35797045
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.366A>G (p.Ala122=) rs2304479
NM_000340.2(SLC2A2):c.*1222T>A rs55989805
NM_000340.2(SLC2A2):c.*1257C>T rs55679742
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400
NM_000340.2(SLC2A2):c.496+8A>T rs5402
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404
NM_000340.2(SLC2A2):c.776-15C>T rs5406
NM_000341.4(SLC3A1):c.*131T>C rs8886
NM_000341.4(SLC3A1):c.1136+3del rs796262035
NM_000341.4(SLC3A1):c.114A>C (p.Gly38=) rs3738985
NM_000341.4(SLC3A1):c.1332+7C>T rs3738984
NM_000341.4(SLC3A1):c.1854G>A (p.Met618Ile) rs698761
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=) rs146630359
NM_000341.4(SLC3A1):c.892-6C>G rs114640930
NM_000349.3(STAR):c.*1524A>G rs3990403
NM_000349.3(STAR):c.*967del rs11326306
NM_000361.2(THBD):c.*1001A>C rs3176123
NM_000361.2(THBD):c.*1918G>A rs1962
NM_000361.2(THBD):c.*277G>A rs3176134
NM_000361.2(THBD):c.*793A>G rs1042580
NM_000361.2(THBD):c.*87T>G rs3176133
NM_000361.2(THBD):c.-58G>C rs13306849
NM_000361.2(THBD):c.1092G>A (p.Glu364=) rs73901577
NM_000361.2(THBD):c.1418C>T (p.Ala473Val) rs1042579
NM_000361.2(THBD):c.1456G>T (p.Asp486Tyr) rs41348347
NM_000368.4(TSC1):c.*1275T>G rs2809244
NM_000368.4(TSC1):c.*1322C>T rs2809243
NM_000368.4(TSC1):c.*1372T>G rs58612431
NM_000368.4(TSC1):c.*1487C>T rs79277527
NM_000368.4(TSC1):c.*1488C>T rs739442
NM_000368.4(TSC1):c.*1507G>A rs739441
NM_000368.4(TSC1):c.*1934A>G rs10491534
NM_000368.4(TSC1):c.*2558A>G rs115516164
NM_000368.4(TSC1):c.*289del rs11323835
NM_000368.4(TSC1):c.*3679G>A rs1050700
NM_000368.4(TSC1):c.*376C>T rs114064768
NM_000368.4(TSC1):c.*4437G>A rs11553763
NM_000368.4(TSC1):c.*4763T>C rs79470094
NM_000368.4(TSC1):c.*4898G>A rs79220715
NM_000368.4(TSC1):c.*682C>T rs75252898
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2626-21_2626-20dup rs5901000
NM_000368.4(TSC1):c.2626-21dup rs5901000
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000369.2(TSHR):c.1637G>A (p.Trp546Ter) rs121908866
NM_000369.2(TSHR):c.394G>C (p.Gly132Arg) rs760874290
NM_000369.3(TSHR):c.202C>T rs142063461
NM_000369.4(TSHR):c.1429A>C (p.Thr477Pro)
NM_000379.4(XDH):c.*1477A>G rs6710015
NM_000379.4(XDH):c.*1516C>T rs1054889
NM_000379.4(XDH):c.*1555G>T rs6752058
NM_000379.4(XDH):c.*518A>G rs1042039
NM_000379.4(XDH):c.2211C>T (p.Ile737=) rs2295475
NM_000379.4(XDH):c.2969+66dup
NM_000379.4(XDH):c.3030T>C (p.Phe1010=) rs1884725
NM_000379.4(XDH):c.3052-12C>G rs13415401
NM_000379.4(XDH):c.3276+12A>G rs1366813
NM_000383.4(AIRE):c.1095+78del
NM_000383.4(AIRE):c.1203T>C (p.Pro401=) rs61737072
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920
NM_000383.4(AIRE):c.652+14C>T rs41277546
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964
NM_000458.4(HNF1B):c.*100= rs1555818000
NM_000458.4(HNF1B):c.*274= rs2689
NM_000458.4(HNF1B):c.*384A>G rs1058166
NM_000458.4(HNF1B):c.*444= rs2688
NM_000458.4(HNF1B):c.*47T>G rs8068014
NM_000458.4(HNF1B):c.*777G>A rs17138512
NM_000458.4(HNF1B):c.*924C>G rs10962
NM_000458.4(HNF1B):c.*99C>A rs2229295
NM_000458.4(HNF1B):c.1654-22= rs3110641
NM_000458.4(HNF1B):c.345-19C>T rs59527848
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857
NM_000466.3(PEX1):c.358-15G>A rs38809
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940
NM_000485.3(APRT):c.*178A>G rs4695
NM_000486.5(AQP2):c.*1562T>C rs296766
NM_000486.5(AQP2):c.*1684T>C rs10875989
NM_000486.5(AQP2):c.*1757A>G rs74091162
NM_000486.5(AQP2):c.*2292_*2295delCTCT rs72283122
NM_000486.5(AQP2):c.*2495A>G rs296768
NM_000486.5(AQP2):c.*2725A>C rs1077520
NM_000486.5(AQP2):c.*3002G>C rs2878771
NM_000486.5(AQP2):c.*3168T>C rs2878772
NM_000486.5(AQP2):c.*374C>T rs467323
NM_000486.5(AQP2):c.360+3G>A rs3741559
NM_000495.5(COL4A5):c.1095G>C (p.Gly365=) rs2272945
NM_000495.5(COL4A5):c.1191C>G (p.Gly397=) rs104886106
NM_000495.5(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891
NM_000495.5(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946
NM_000495.5(COL4A5):c.1992G>T (p.Lys664Asn) rs34077552
NM_000495.5(COL4A5):c.2055T>C (p.Leu685=) rs7884085
NM_000495.5(COL4A5):c.2107A>G (p.Ile703Val) rs104886155
NM_000495.5(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164
NM_000495.5(COL4A5):c.2349G>A (p.Pro783=) rs3747408
NM_000495.5(COL4A5):c.2999G>T (p.Gly1000Val) rs281874709
NM_000495.5(COL4A5):c.3255T>A (p.Pro1085=) rs104886230
NM_000495.5(COL4A5):c.3513A>G (p.Gln1171=) rs2273051
NM_000495.5(COL4A5):c.3582C>T (p.Pro1194=) rs104886243
NM_000495.5(COL4A5):c.4239C>T (p.Leu1413=) rs104886271
NM_000495.5(COL4A5):c.4275C>T (p.Asp1425=) rs61746140
NM_000495.5(COL4A5):c.4675C>G (p.Pro1559Ala) rs104886295
NM_000495.5(COL4A5):c.970C>T (p.Pro324Ser) rs104886087
NM_000497.3(CYP11B1):c.*1020C>T rs5017238
NM_000497.3(CYP11B1):c.*1042A>G rs7003319
NM_000497.3(CYP11B1):c.*1288A>G rs61752809
NM_000497.3(CYP11B1):c.*132T>C rs5297
NM_000497.3(CYP11B1):c.*1417G>A rs61752812
NM_000497.3(CYP11B1):c.*1499C>T rs1134095
NM_000497.3(CYP11B1):c.*1566G>T rs1134096
NM_000497.3(CYP11B1):c.*1852T>G rs4736312
NM_000497.3(CYP11B1):c.*318A>G rs5299
NM_000497.3(CYP11B1):c.*471A>C rs12543598
NM_000497.3(CYP11B1):c.*516A>G rs5301
NM_000497.3(CYP11B1):c.*694T>C rs5303
NM_000497.3(CYP11B1):c.*738G>A rs5304
NM_000497.3(CYP11B1):c.*923G>C rs61752805
NM_000497.3(CYP11B1):c.1086G>C (p.Leu362=) rs6403
NM_000497.3(CYP11B1):c.1144C>T (p.Leu382=) rs5293
NM_000497.3(CYP11B1):c.1157C>T (p.Ala386Val) rs4541
NM_000497.3(CYP11B1):c.128G>A (p.Arg43Gln) rs4534
NM_000497.3(CYP11B1):c.1399-14G>C rs5295
NM_000497.3(CYP11B1):c.225A>G (p.Leu75=) rs6410
NM_000497.3(CYP11B1):c.239+13C>A rs6402
NM_000497.3(CYP11B1):c.243C>T (p.Tyr81=) rs9657022
NM_000497.3(CYP11B1):c.246C>T (p.Asp82=) rs5283
NM_000497.3(CYP11B1):c.595+12G>A rs6387
NM_000497.3(CYP11B1):c.800-14C>T rs4535
NM_000497.3(CYP11B1):c.873G>A (p.Ala291=) rs34570566
NM_000498.3(CYP11B2):c.*1178T>C rs3802228
NM_000498.3(CYP11B2):c.*239T>C rs9297975
NM_000498.3(CYP11B2):c.*292_*294dup rs3839864
NM_000498.3(CYP11B2):c.*532G>T rs3802230
NM_000498.3(CYP11B2):c.*537C>T rs72499120
NM_000498.3(CYP11B2):c.*735G>A rs28491316
NM_000498.3(CYP11B2):c.*744G>A rs28390200
NM_000498.3(CYP11B2):c.*81G>A rs3097
NM_000498.3(CYP11B2):c.1016T>C (p.Ile339Thr) rs4544
NM_000498.3(CYP11B2):c.1120C>A (p.Arg374=) rs4538
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294
NM_000498.3(CYP11B2):c.1170G>A (p.Leu390=) rs5313
NM_000498.3(CYP11B2):c.1303G>A (p.Gly435Ser) rs4545
NM_000498.3(CYP11B2):c.504C>T (p.Phe168=) rs4546
NM_000498.3(CYP11B2):c.518A>G (p.Lys173Arg) rs4539
NM_000498.3(CYP11B2):c.873G>A (p.Ala291=) rs4536
NM_000498.3(CYP11B2):c.891G>A (p.Ala297=) rs4543
NM_000500.9(CYP21A2):c.*13G>A rs6447
NM_000500.9(CYP21A2):c.*18C>T
NM_000500.9(CYP21A2):c.*2G>C
NM_000500.9(CYP21A2):c.1223-21C>T
NM_000500.9(CYP21A2):c.1320C>T (p.Phe440=)
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000500.9(CYP21A2):c.1482C>T (p.Ser494=) rs397515529
NM_000500.9(CYP21A2):c.17_19TGC[6] (p.Leu10dup) rs61338903
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252
NM_000500.9(CYP21A2):c.203-18G>C
NM_000500.9(CYP21A2):c.292+109C>G
NM_000500.9(CYP21A2):c.293-115C>G
NM_000500.9(CYP21A2):c.293-130C>T
NM_000500.9(CYP21A2):c.293-80G>A
NM_000500.9(CYP21A2):c.293-88G>A
NM_000500.9(CYP21A2):c.293-89A>G
NM_000500.9(CYP21A2):c.293-91G>A
NM_000500.9(CYP21A2):c.293-94T>A
NM_000500.9(CYP21A2):c.293-95G>C
NM_000500.9(CYP21A2):c.293-96G>T
NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys) rs6474
NM_000500.9(CYP21A2):c.322C>T (p.Leu108=)
NM_000500.9(CYP21A2):c.382C>T (p.Leu128=)
NM_000500.9(CYP21A2):c.405C>T (p.Ser135=)
NM_000500.9(CYP21A2):c.447+38C>T
NM_000500.9(CYP21A2):c.447+39G>A
NM_000500.9(CYP21A2):c.448-3C>T
NM_000500.9(CYP21A2):c.448-50G>A
NM_000500.9(CYP21A2):c.550-19C>G
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu) rs397515531
NM_000500.9(CYP21A2):c.651+30G>A
NM_000500.9(CYP21A2):c.651+35A>G
NM_000500.9(CYP21A2):c.652-5C>T
NM_000500.9(CYP21A2):c.747C>G (p.Leu249=) rs6477
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472
NM_000503.6(EYA1):c.*1324T>C rs56115941
NM_000503.6(EYA1):c.*1581G>A rs9298163
NM_000503.6(EYA1):c.*509_*512del rs146202037
NM_000503.6(EYA1):c.*800T>C rs74862574
NM_000503.6(EYA1):c.-271G>A rs73684755
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199
NM_000503.6(EYA1):c.1278C>T (p.Gly426=) rs4738118
NM_000503.6(EYA1):c.1755T>C (p.His585=) rs10103397
NM_000503.6(EYA1):c.58C>G (p.Pro20Ala) rs1445404
NM_000503.6(EYA1):c.813A>G (p.Thr271=) rs1445398
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891
NM_000508.5(FGA):c.2587del (p.Leu863_Val864insTer)
NM_000512.5(GALNS):c.*367T>C rs1141390
NM_000512.5(GALNS):c.*36G>A rs11076715
NM_000512.5(GALNS):c.*611A>G rs1135364
NM_000512.5(GALNS):c.*652A>G rs1135366
NM_000512.5(GALNS):c.*701C>G rs77936719
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496
NM_000518.5(HBB):c.315+16G>C rs10768683
NM_000518.5(HBB):c.315+81C>T rs7946748
NM_000518.5(HBB):c.316-185C>T rs1609812
NM_000518.5(HBB):c.9T>C (p.His3=) rs713040
NM_000537.4(REN):c.204A>C (p.Thr68=) rs5705
NM_000537.4(REN):c.649G>A (p.Gly217Arg) rs11571117
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1377C>T (p.Gly459=) rs45517170
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.228C>T (p.His76=) rs45517097
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.2546-12C>T rs13331451
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp) rs372321790
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.3284+25C>T
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373
NM_000548.5(TSC2):c.3981C>G (p.Asp1327Glu) rs876659087
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.4448G>C (p.Arg1483Thr) rs370114027
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.5(TSC2):c.4677C>T (p.Leu1559=) rs45517361
NM_000548.5(TSC2):c.482-3C>T rs1800720
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=) rs35282988
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.5(TSC2):c.5068+27_5069-47del rs137854209
NM_000548.5(TSC2):c.5161-10A>C rs1800718
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748
NM_000548.5(TSC2):c.5260-25C>G rs13332222
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln) rs45506695
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000551.3(VHL):c.*1023G>A rs1681669
NM_000551.3(VHL):c.*1060C>T rs1681668
NM_000551.3(VHL):c.*1860A>G rs458106
NM_000551.3(VHL):c.*1973_*1979del rs149248243
NM_000551.3(VHL):c.*2034T>G rs1136249
NM_000551.3(VHL):c.*2140C>T rs140614750
NM_000551.3(VHL):c.*2548G>A rs187719061
NM_000551.3(VHL):c.*2600T>A rs142728549
NM_000551.3(VHL):c.*294G>A rs1642742
NM_000551.3(VHL):c.*2975G>C rs801913
NM_000551.3(VHL):c.*3482dup rs148013887
NM_000551.3(VHL):c.*3644_*3645insG rs201632485
NM_000551.3(VHL):c.-195G>A rs779805
NM_000551.3(VHL):c.235C>T (p.Arg79Cys) rs200885420
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000782.5(CYP24A1):c.552C>T (p.Ala184=) rs2296241
NM_000784.3(CYP27A1):c.-357dupC rs397795841
NM_000784.4(CYP27A1):c.1374C>A (p.Pro458=) rs55998945
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=) rs75897848
NM_000784.4(CYP27A1):c.366= (p.Gly122=) rs1051087
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003
NM_000784.4(CYP27A1):c.852G>A (p.Lys284=) rs587778814
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=) rs59428328
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619
NM_000789.4(ACE):c.*728_*729CT[3] rs4366
NM_000789.4(ACE):c.*910A>G rs1055086
NM_000789.4(ACE):c.1215C>T (p.Pro405=) rs4309
NM_000789.4(ACE):c.2193A>G (p.Ala731=) rs4331
NM_000789.4(ACE):c.2306-11A>C rs4342
NM_000789.4(ACE):c.2328G>A (p.Thr776=) rs4343
NM_000789.4(ACE):c.3387T>C (p.Phe1129=) rs4362
NM_000789.4(ACE):c.3692-6G>A rs4363
NM_000789.4(ACE):c.582C>T (p.Asn194=) rs4298
NM_000890.5(KCNJ5):c.*1063G>A rs2846696
NM_000890.5(KCNJ5):c.*1168C>G rs1137937
NM_000890.5(KCNJ5):c.*1338C>A rs6590358
NM_000890.5(KCNJ5):c.*1338del rs144472942
NM_000890.5(KCNJ5):c.*378dup rs397799938
NM_000890.5(KCNJ5):c.*410C>T rs2846675
NM_000890.5(KCNJ5):c.*528C>T rs3867250
NM_000890.5(KCNJ5):c.*779G>T rs4373934
NM_000890.5(KCNJ5):c.*804G>T rs2604204
NM_000890.5(KCNJ5):c.*861_*865GTTTT[7] rs36205004
NM_000890.5(KCNJ5):c.*928C>T rs7925056
NM_000890.5(KCNJ5):c.*976G>A rs7102315
NM_000890.5(KCNJ5):c.171T>C (p.Ser57=) rs6590357
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=) rs7118824
NM_000890.5(KCNJ5):c.834T>C (p.His278=) rs7118833
NM_000890.5(KCNJ5):c.844C>G (p.Gln282Glu) rs7102584
NM_000890.5(KCNJ5):c.937+7C>T rs45516097
NM_000890.5(KCNJ5):c.938-10G>A rs4937391
NM_000901.5(NR3C2):c.*1032G>A rs61763141
NM_000901.5(NR3C2):c.*1410A>G rs5534
NM_000901.5(NR3C2):c.*2471G>A rs2871
NM_000901.5(NR3C2):c.-2C>G rs2070951
NM_000901.5(NR3C2):c.1497T>C (p.Asp499=) rs5525
NM_000901.5(NR3C2):c.1713T>C (p.Ser571=) rs5529
NM_000901.5(NR3C2):c.538G>A (p.Val180Ile) rs5522
NM_001001329.2(PRKCSH):c.-336G>A rs17426435
NM_001001433.3(STX16):c.*1581G>C rs73302110
NM_001001433.3(STX16):c.*1785A>G rs6128397
NM_001001433.3(STX16):c.*183G>T rs1052642
NM_001001433.3(STX16):c.*1928C>T rs11578
NM_001001433.3(STX16):c.*2057G>A rs7683
NM_001001433.3(STX16):c.*2060T>C rs115404291
NM_001001433.3(STX16):c.*2365A>T rs189786439
NM_001001433.3(STX16):c.*3175_*3176del rs35295928
NM_001001433.3(STX16):c.*70G>A rs114597931
NM_001001433.3(STX16):c.-350C>A rs41296205
NM_001001433.3(STX16):c.141C>T (p.Asp47=) rs73598392
NM_001001433.3(STX16):c.443G>A (p.Arg148Gln) rs41276950
NM_001001433.3(STX16):c.540G>A (p.Gln180=) rs2296524
NM_001002295.2(GATA3):c.*1066C>T rs11255509
NM_001002295.2(GATA3):c.*517A>G rs9746
NM_001002295.2(GATA3):c.*612G>A rs1058240
NM_001002295.2(GATA3):c.*93C>T rs2229360
NM_001002295.2(GATA3):c.-251G>A rs10905277
NM_001002295.2(GATA3):c.-370+28del rs397846644
NM_001002295.2(GATA3):c.-58C>T rs412359
NM_001002295.2(GATA3):c.-60C>T rs11567887
NM_001002295.2(GATA3):c.606T>C (p.Arg202=) rs2228254
NM_001002295.2(GATA3):c.621C>T (p.Ala207=) rs2229359
NM_001007027.2(ALG8):c.*272A>G rs1263505
NM_001008216.2(GALE):c.873+13G>A rs760941
NM_001009944.3(PKD1):c.10051-25G>A rs150399422
NM_001009944.3(PKD1):c.10225G>C (p.Val3409Leu) rs61747420
NM_001009944.3(PKD1):c.10239C>T (p.Ser3413=)
NM_001009944.3(PKD1):c.1023C>T (p.Ala341=) rs11643513
NM_001009944.3(PKD1):c.10368C>T (p.Ala3456=) rs7194935
NM_001009944.3(PKD1):c.10406-4C>T rs151095649
NM_001009944.3(PKD1):c.10529C>T (p.Thr3510Met) rs45478794
NM_001009944.3(PKD1):c.10535C>T (p.Ala3512Val) rs34197769
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg) rs79000340
NM_001009944.3(PKD1):c.10768C>T (p.Leu3590=) rs116114803
NM_001009944.3(PKD1):c.107C>A (p.Pro36His) rs560049593
NM_001009944.3(PKD1):c.10822-14C>T rs7192711
NM_001009944.3(PKD1):c.11156+13G>A rs142616270
NM_001009944.3(PKD1):c.1119C>T (p.Leu373=)
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380
NM_001009944.3(PKD1):c.11537+3_11537+5dup rs201204878
NM_001009944.3(PKD1):c.11538-11C>T rs377692278
NM_001009944.3(PKD1):c.11652C>T (p.Ser3884=) rs377436997
NM_001009944.3(PKD1):c.11682C>T (p.Ser3894=) rs567482892
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=)
NM_001009944.3(PKD1):c.11916C>T (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=) rs202207855
NM_001009944.3(PKD1):c.11961C>T (p.Ala3987=) rs116236042
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277
NM_001009944.3(PKD1):c.12004-34C>A rs117865497
NM_001009944.3(PKD1):c.12133A>G (p.Ile4045Val) rs10960
NM_001009944.3(PKD1):c.12138+22del rs199701927
NM_001009944.3(PKD1):c.12176C>T (p.Ala4059Val) rs3209986
NM_001009944.3(PKD1):c.12276A>G (p.Ala4092=) rs3087632
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502
NM_001009944.3(PKD1):c.12436G>A (p.Val4146Ile) rs148478410
NM_001009944.3(PKD1):c.12630T>C (p.Pro4210=) rs7203729
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=)
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888
NM_001009944.3(PKD1):c.1539C>T (p.Pro513=) rs550769703
NM_001009944.3(PKD1):c.1607-27C>T rs4787158
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387
NM_001009944.3(PKD1):c.1714C>T (p.Pro572Ser) rs149022148
NM_001009944.3(PKD1):c.1849+14TGGTGGG[2] rs56173969
NM_001009944.3(PKD1):c.1849+21_1849+34del
NM_001009944.3(PKD1):c.1850-4A>G rs35929659
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141
NM_001009944.3(PKD1):c.216-38G>A
NM_001009944.3(PKD1):c.2216G>A (p.Arg739Gln)
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454
NM_001009944.3(PKD1):c.2694A>C (p.Ala898=) rs142357713
NM_001009944.3(PKD1):c.2700G>A (p.Pro900=) rs35667726
NM_001009944.3(PKD1):c.2730C>T (p.Asp910=) rs35965348
NM_001009944.3(PKD1):c.276G>A (p.Ala92=) rs374518168
NM_001009944.3(PKD1):c.2853+23C>T
NM_001009944.3(PKD1):c.2854-5C>T rs114846412
NM_001009944.3(PKD1):c.288-11G>C rs750270591
NM_001009944.3(PKD1):c.288-20G>A
NM_001009944.3(PKD1):c.288-21C>T
NM_001009944.3(PKD1):c.288-32A>G
NM_001009944.3(PKD1):c.2986-15C>T rs2855349
NM_001009944.3(PKD1):c.3063T>C (p.Gly1021=) rs2369068
NM_001009944.3(PKD1):c.3111A>G (p.Leu1037=) rs2099534
NM_001009944.3(PKD1):c.3275T>C (p.Met1092Thr) rs2549677
NM_001009944.3(PKD1):c.3296-15G>A rs201704201
NM_001009944.3(PKD1):c.3372C>T (p.Ala1124=) rs75510884
NM_001009944.3(PKD1):c.3375C>T (p.Ser1125=) rs74331768
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp)
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701
NM_001009944.3(PKD1):c.3489C>T (p.Phe1163=) rs139744826
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.3513C>G (p.Thr1171=) rs143784787
NM_001009944.3(PKD1):c.3930C>T (p.Asp1310=) rs147850232
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358
NM_001009944.3(PKD1):c.4071G>T (p.Leu1357=) rs145737766
NM_001009944.3(PKD1):c.4195T>C (p.Trp1399Arg) rs116092985
NM_001009944.3(PKD1):c.4263C>T (p.Ala1421=) rs149938033
NM_001009944.3(PKD1):c.4264G>A (p.Ala1422Thr) rs140980374
NM_001009944.3(PKD1):c.4302C>T (p.Ile1434=) rs78509585
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067
NM_001009944.3(PKD1):c.4665A>C (p.Ala1555=) rs71385734
NM_001009944.3(PKD1):c.4674G>A (p.Thr1558=) rs79884128
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027
NM_001009944.3(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275
NM_001009944.3(PKD1):c.5172C>T (p.Ala1724=) rs9935526
NM_001009944.3(PKD1):c.5307T>C (p.His1769=) rs575064371
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759
NM_001009944.3(PKD1):c.5373C>T (p.Asn1791=) rs143017410
NM_001009944.3(PKD1):c.5454G>A (p.Ala1818=) rs143916489
NM_001009944.3(PKD1):c.5457C>T (p.Ala1819=)
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200
NM_001009944.3(PKD1):c.5682C>T (p.Ala1894=) rs144634185
NM_001009944.3(PKD1):c.5763G>A (p.Leu1921=) rs2575313
NM_001009944.3(PKD1):c.5827G>A (p.Val1943Ile) rs137978188
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665
NM_001009944.3(PKD1):c.6078C>T (p.Val2026=) rs147253810
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=) rs137925121
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu)
NM_001009944.3(PKD1):c.6927C>T (p.Gly2309=) rs189277711
NM_001009944.3(PKD1):c.7065+21G>A
NM_001009944.3(PKD1):c.7066-5G>A rs372745980
NM_001009944.3(PKD1):c.7077G>C (p.Arg2359=) rs4018162
NM_001009944.3(PKD1):c.7165T>C (p.Leu2389=) rs2457533
NM_001009944.3(PKD1):c.7441C>T (p.Leu2481=) rs2003782
NM_001009944.3(PKD1):c.7489+30C>T
NM_001009944.3(PKD1):c.7490-10C>T
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051
NM_001009944.3(PKD1):c.7708T>C (p.Leu2570=) rs28575767
NM_001009944.3(PKD1):c.7863+11C>T rs368629973
NM_001009944.3(PKD1):c.7863+13T>C rs115024665
NM_001009944.3(PKD1):c.7913A>G (p.His2638Arg) rs9936785
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=)
NM_001009944.3(PKD1):c.8016+26T>C rs9934488
NM_001009944.3(PKD1):c.8017-29C>T rs546456429
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=) rs149879790
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387
NM_001009944.3(PKD1):c.8161+21T>C rs4786209
NM_001009944.3(PKD1):c.8161+29G>A rs375810914
NM_001009944.3(PKD1):c.8161+38G>A rs57922772
NM_001009944.3(PKD1):c.8161+8G>A rs199569003
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=) rs145850037
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319
NM_001009944.3(PKD1):c.8439C>T (p.Ser2813=) rs117856830
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043
NM_001009944.3(PKD1):c.8644T>A (p.Trp2882Arg) rs13333553
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642
NM_001009944.3(PKD1):c.8791+13G>A
NM_001009944.3(PKD1):c.8898G>C (p.Glu2966Asp) rs13337123
NM_001009944.3(PKD1):c.8913T>C (p.Ala2971=) rs9926309
NM_001009944.3(PKD1):c.8948+11C>T rs147923678
NM_001009944.3(PKD1):c.8948+12G>A
NM_001009944.3(PKD1):c.8948+17A>G rs9928442
NM_001009944.3(PKD1):c.8949-17A>G rs9928278
NM_001009944.3(PKD1):c.8949-20G>A rs9936029
NM_001009944.3(PKD1):c.8949-4C>T
NM_001009944.3(PKD1):c.8964G>A (p.Ala2988=) rs76184385
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met)
NM_001009944.3(PKD1):c.9156C>T (p.Gly3052=)
NM_001009944.3(PKD1):c.9195G>C (p.Val3065=) rs9935834
NM_001009944.3(PKD1):c.9195_9196delinsCC (p.Phe3066Leu) rs372874584
NM_001009944.3(PKD1):c.9196T>C (p.Phe3066Leu) rs9925969
NM_001009944.3(PKD1):c.9270C>T (p.Val3090=) rs149056734
NM_001009944.3(PKD1):c.9330T>C (p.Pro3110=) rs12926160
NM_001009944.3(PKD1):c.9569-11C>T
NM_001009944.3(PKD1):c.9569-13T>C rs11248911
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614
NM_001009944.3(PKD1):c.9678C>T (p.Asn3226=)
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=) rs150949575
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590
NM_001012515.3(FECH):c.68-23C>T rs2269219
NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg) rs142101123
NM_001018113.3(FANCB):c.897C>T (p.Phe299=) rs753443421
NM_001018113.3(FANCB):c.960T>G (p.Ala320=) rs139045247
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr) rs17849995
NM_001023570.4(IQCB1):c.1410+74AT[4]
NM_001023570.4(IQCB1):c.1410+81GT[17]
NM_001031681.2(CTNS):c.*1075A>G rs161398
NM_001031681.2(CTNS):c.*1592del rs397856854
NM_001031681.2(CTNS):c.*1941T>C rs161397
NM_001031681.2(CTNS):c.*2018dup rs397702352
NM_001031681.2(CTNS):c.*372T>A rs222754
NM_001031681.2(CTNS):c.*373T>G rs224562
NM_001031681.2(CTNS):c.1138C>G (p.Pro380Ala) rs2873624
NM_001031681.2(CTNS):c.779C>T (p.Thr260Ile) rs161400
NM_001035511.2(SDHC):c.430G>C (p.Glu144Gln) rs201210474
NM_001038.6(SCNN1A):c.*1012_*1015TGTT[1] rs796798913
NM_001038.6(SCNN1A):c.-55+5G>C rs13306617
NM_001038.6(SCNN1A):c.-93A>G rs10849447
NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr) rs11542844
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) rs3741913
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) rs2228576
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp) rs876657425
NM_001039.4(SCNN1G):c.*106G>A rs550094178
NM_001039.4(SCNN1G):c.*1369C>T rs72647549
NM_001039.4(SCNN1G):c.*154G>T rs571729989
NM_001039.4(SCNN1G):c.*159T>G rs3026
NM_001039.4(SCNN1G):c.*236C>T rs5726
NM_001039.4(SCNN1G):c.*268G>A rs5727
NM_001039.4(SCNN1G):c.*572A>G rs5728
NM_001039.4(SCNN1G):c.*606T>A rs5729
NM_001039.4(SCNN1G):c.*659T>C rs9922851
NM_001039.4(SCNN1G):c.*675A>G rs5730
NM_001039.4(SCNN1G):c.*789T>C rs9923016
NM_001039.4(SCNN1G):c.*790C>T rs9932505
NM_001039.4(SCNN1G):c.-31A>G rs5732
NM_001039.4(SCNN1G):c.-44-4C>G rs5731
NM_001039.4(SCNN1G):c.1176+14A>G rs5740
NM_001039.4(SCNN1G):c.1432-7G>A rs13306653
NM_001039.4(SCNN1G):c.1569+10G>A rs13306659
NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=) rs5723
NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=) rs5734
NM_001039.4(SCNN1G):c.474T>C (p.Ile158=) rs5735
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001039.4(SCNN1G):c.549C>T (p.Gly183=) rs5737
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001042413.2(GLIS3):c.*1152T>G rs1331260
NM_001042413.2(GLIS3):c.*1197G>C rs10973690
NM_001042413.2(GLIS3):c.*1562A>C rs12376878
NM_001042413.2(GLIS3):c.*1800_*1801insC rs34028765
NM_001042413.2(GLIS3):c.*2191G>A rs3739618
NM_001042413.2(GLIS3):c.*2460C>T rs1053277
NM_001042413.2(GLIS3):c.*2732G>A rs1053280
NM_001042413.2(GLIS3):c.*3336A>T rs1455174
NM_001042413.2(GLIS3):c.*3336_*3337del rs66766243
NM_001042413.2(GLIS3):c.*448G>A rs734752
NM_001042413.2(GLIS3):c.*664dup rs5896025
NM_001042413.2(GLIS3):c.*712C>T rs912257
NM_001042413.2(GLIS3):c.-131G>A rs7852293
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro) rs806052
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788
NM_001042492.2(NF1):c.*859_*860AT[7] rs369548314
NM_001042492.3(NF1):c.730+32dup
NM_001072.4(UGT1A6):c.*211T>C rs10929303
NM_001072.4(UGT1A6):c.*339G>C rs1042640
NM_001072.4(UGT1A6):c.*440G>C rs8330
NM_001077418.3(TMEM231):c.582+8C>G rs144252983
NM_001077488.4(GNAS):c.369C>T (p.Pro123=) rs35287986
NM_001079846.1(CREBBP):c.1537C>A (p.Leu513Ile) rs61753381
NM_001079846.1(CREBBP):c.1839T>C (p.Tyr613=) rs130003
NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) rs142047649
NM_001079846.1(CREBBP):c.2670G>A (p.Pro890=) rs3025694
NM_001079846.1(CREBBP):c.3786C>A (p.Ile1262=) rs129974
NM_001079846.1(CREBBP):c.5874C>T (p.Ala1958=) rs181646656
NM_001079846.1(CREBBP):c.6507A>G (p.Gln2169=) rs55960450
NM_001079846.1(CREBBP):c.6597C>T (p.Pro2199=) rs3751845
NM_001079846.1(CREBBP):c.7098A>G (p.Glu2366=) rs55916120
NM_001079846.1(CREBBP):c.939T>C (p.Asp313=) rs3025702
NM_001080508.3(TBX18):c.142G>A (p.Gly48Arg)
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.2188C>T (p.His730Tyr) rs7905349
NM_001081.3(CUBN):c.2571C>T (p.Asn857=) rs17432826
NM_001081.3(CUBN):c.2791+130G>A rs4747297
NM_001081.3(CUBN):c.2791+6A>C rs78549445
NM_001081.3(CUBN):c.3522C>T (p.Gly1174=) rs1873469
NM_001081.3(CUBN):c.5304C>T (p.Ile1768=) rs61841454
NM_001081.3(CUBN):c.5518G>A (p.Gly1840Ser) rs2271462
NM_001081.3(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305
NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460
NM_001081.3(CUBN):c.758T>C (p.Phe253Ser) rs1801222
NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168
NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) rs45551835
NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534
NM_001081.3(CUBN):c.8905+137T>A rs780847
NM_001081.3(CUBN):c.8950A>G (p.Ile2984Val) rs1801239
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001098484.3(SLC4A4):c.*175del rs138389345
NM_001098484.3(SLC4A4):c.*2767A>G rs1043218
NM_001098484.3(SLC4A4):c.*411G>C rs1453452
NM_001098484.3(SLC4A4):c.*77A>C rs1062677
NM_001098484.3(SLC4A4):c.*938G>C rs1062679
NM_001098484.3(SLC4A4):c.1904-74_1904-73del
NM_001098484.3(SLC4A4):c.1904-74_1904-73insGGTT
NM_001113378.1(FANCI):c.1698+15C>T rs9806604
NM_001113378.1(FANCI):c.2225G>C (p.Cys742Ser) rs2283432
NM_001113378.1(FANCI):c.257C>T (p.Ala86Val) rs17803620
NM_001113378.1(FANCI):c.3006+15A>C rs2159081
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) rs1138465
NM_001114636.1(FANCL):c.996T>C (p.Ser332=) rs848291
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723
NM_001126108.2(SLC12A3):c.2755C>T (p.Arg919Cys) rs12708965
NM_001126108.2(SLC12A3):c.2924+13C>T rs2289115
NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly) rs1529927
NM_001126112.2(TP53):c.*773C>T rs200378797
NM_001126112.2(TP53):c.108G>A (p.Pro36=) rs1800370
NM_001126112.2(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_001126112.2(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_001126112.2(TP53):c.217G>A (p.Val73Met) rs587782423
NM_001126112.2(TP53):c.639A>G (p.Arg213=) rs1800372
NM_001126112.2(TP53):c.673-36G>C rs17880604
NM_001126112.2(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_001126112.2(TP53):c.869G>A (p.Arg290His) rs55819519
NM_001126112.2(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_001126112.2(TP53):c.993+12T>C rs1800899
NM_001127500.3(MET):c.*1028A>G rs41738
NM_001127500.3(MET):c.*1326A>G rs41739
NM_001127500.3(MET):c.*1428G>A rs1621
NM_001127500.3(MET):c.*216C>A rs149188493
NM_001127500.3(MET):c.*2240G>A rs6566
NM_001127500.3(MET):c.*684G>A rs12540703
NM_001127500.3(MET):c.1124A>G (p.Asn375Ser) rs33917957
NM_001127500.3(MET):c.1131C>T (p.Ile377=) rs28444388
NM_001127500.3(MET):c.1701+58dup
NM_001127500.3(MET):c.1701+59G>T
NM_001127500.3(MET):c.1944A>G (p.Gln648=) rs13223756
NM_001127500.3(MET):c.2638-9del
NM_001127500.3(MET):c.3029C>T (p.Thr1010Ile) rs56391007
NM_001127500.3(MET):c.3912C>T (p.Asp1304=) rs41736
NM_001127500.3(MET):c.4071G>A (p.Ala1357=) rs2023748
NM_001127500.3(MET):c.4146G>A (p.Pro1382=) rs41737
NM_001127500.3(MET):c.534C>T (p.Ser178=) rs35775721
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932
NM_001127701.1(SERPINA1):c.682G>A (p.Glu228Lys) rs199422208
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647
NM_001127701.1(SERPINA1):c.77A>C (p.Asp26Ala) rs199422212
NM_001127892.1(SALL1):c.157_159AGC[11] (p.Ser62dup) rs113614842
NM_001127898.4(CLCN5):c.*2860T>C rs140913229
NM_001127898.4(CLCN5):c.*3255C>T rs112868450
NM_001127898.4(CLCN5):c.*3409A>G rs59126550
NM_001127898.4(CLCN5):c.*3652T>C rs56657044
NM_001127898.4(CLCN5):c.*4192C>T rs148902882
NM_001127898.4(CLCN5):c.*5144C>T rs111560086
NM_001127898.4(CLCN5):c.*5956T>C rs932286
NM_001127898.4(CLCN5):c.1203G>C (p.Leu401=) rs34122840
NM_001127898.4(CLCN5):c.1558-14G>C rs7063765
NM_001127898.4(CLCN5):c.17-39087=
NM_001127898.4(CLCN5):c.1914C>T (p.Pro638=) rs34173954
NM_001127898.4(CLCN5):c.416-6A>T rs6651602
NM_001127898.4(CLCN5):c.819= (p.Ser273=) rs34464675
NM_001128929.3(ROBO2):c.*1114G>A rs11127602
NM_001128929.3(ROBO2):c.*1216C>T rs1031377
NM_001128929.3(ROBO2):c.*2196G>A rs117129934
NM_001128929.3(ROBO2):c.*2737G>A rs1163748
NM_001128929.3(ROBO2):c.*3001A>G rs114795420
NM_001128929.3(ROBO2):c.*3236G>A rs1163750
NM_001128929.3(ROBO2):c.*3923C>T rs10865561
NM_001128929.3(ROBO2):c.110-14G>T rs61731268
NM_001128929.3(ROBO2):c.110-57466T>G rs3923744
NM_001128929.3(ROBO2):c.110-57632G>C rs79942150
NM_001128929.3(ROBO2):c.110-57770T>C rs3923745
NM_001128929.3(ROBO2):c.142C>A (p.Arg48=) rs6788280
NM_001128929.3(ROBO2):c.1592A>T (p.Asn531Ile) rs80051448
NM_001128929.3(ROBO2):c.19C>A (p.Arg7Ser) rs12171318
NM_001128929.3(ROBO2):c.3602+13del rs78824327
NM_001128929.3(ROBO2):c.73G>A (p.Val25Met) rs78834776
NM_001131025.1(PEX5):c.*755C>G rs1057225
NM_001131025.1(PEX5):c.-486C>G rs12227917
NM_001131026.2(PEX5):c.19+1115dup rs11448434
NM_001142301.1(TMEM67):c.1567A>G (p.Ile523Val) rs3134031
NM_001142301.1(TMEM67):c.823-3C>T rs3097427
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly) rs2287499
NM_001145901.2(SARS2):c.1166+4T>C rs7508411
NM_001162426.2(TSC1):c.2623-21_2623-19dup rs5901000
NM_001162426.2(TSC1):c.2623-4del rs5901000
NM_001162426.2(TSC1):c.568C>T (p.Arg190Cys) rs118203400
NM_001164277.1(SLC37A4):c.*125G>C rs8301
NM_001164277.1(SLC37A4):c.*418T>C rs11006
NM_001164277.1(SLC37A4):c.-420G>C rs2846281
NM_001164277.1(SLC37A4):c.-516G>A rs3759012
NM_001164277.1(SLC37A4):c.-755T>A rs1784559
NM_001164277.1(SLC37A4):c.1225G>A (p.Ala409Thr) rs886047748
NM_001164277.1(SLC37A4):c.183T>C (p.Ala61=) rs34123220
NM_001165927.1(MKS1):c.828+9A>G rs3826300
NM_001171.5(ABCC6):c.*17G>A rs3902401
NM_001171.5(ABCC6):c.*38G>A rs59461468
NM_001171.5(ABCC6):c.1233T>G (p.Asn411Lys) rs9930886
NM_001171.5(ABCC6):c.1245G>A (p.Val415=) rs9940825
NM_001171.5(ABCC6):c.1338+20C>G rs12929920
NM_001171.5(ABCC6):c.1338+7C>G rs9940089
NM_001171.5(ABCC6):c.1841T>C (p.Val614Ala) rs12931472
NM_001171.5(ABCC6):c.1890C>G (p.Thr630=) rs8058696
NM_001171.5(ABCC6):c.1896C>A (p.His632Gln) rs8058694
NM_001171.5(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789
NM_001171.5(ABCC6):c.2175A>T (p.Val725=) rs59757815
NM_001171.5(ABCC6):c.2224A>G (p.Ile742Val) rs59593133
NM_001171.5(ABCC6):c.2490C>T (p.Ala830=) rs9924755
NM_001171.5(ABCC6):c.2835C>T (p.Pro945=) rs2856585
NM_001171.5(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174
NM_001171.5(ABCC6):c.345+26C>T rs56019914
NM_001171.5(ABCC6):c.3507-16T>C rs3213471
NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472
NM_001171.5(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428
NM_001171.5(ABCC6):c.4208+9G>A rs58760581
NM_001171.5(ABCC6):c.645G>A (p.Thr215=) rs72664282
NM_001173990.3(TMEM216):c.*558G>A rs7607
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001184832.2(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311
NM_001243182.1(ATP7B):c.-120_-119insCGCCG
NM_001271620.2(ZNF423):c.1365T>C (p.Asn455=) rs13336762
NM_001271620.2(ZNF423):c.1665G>A (p.Pro555=) rs16947741
NM_001271620.2(ZNF423):c.1706A>G (p.Asn569Ser) rs34214571
NM_001271620.2(ZNF423):c.2358C>A (p.Pro786=) rs12599354
NM_001271620.2(ZNF423):c.3157G>A (p.Ala1053Thr) rs147898137
NM_001276327.1(SLC22A12):c.-424T>C rs559946
NM_001276327.1(SLC22A12):c.-718C>T rs9734313
NM_001278293.3(ARL6):c.*225G>C rs4857294
NM_001318918.1(GLIS2):c.*614G>A rs653539
NM_001318918.1(GLIS2):c.1311A>C (p.Ala437=) rs3810817
NM_001318918.1(GLIS2):c.864T>C (p.Tyr288=) rs669561
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala) rs386777947
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) rs190271845
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=) rs11611
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=) rs45568037
NM_001354.5(AKR1C2):c.441A>G (p.Thr147=) rs3207909
NM_001360.2(DHCR7):c.*643C>T rs1044535
NM_001360.2(DHCR7):c.*734A>G rs7690
NM_001360.2(DHCR7):c.1018G>A (p.Val340Ile) rs148081697
NM_001360.2(DHCR7):c.1158T>C (p.Asp386=) rs760241
NM_001360.2(DHCR7):c.1272C>T (p.Gly424=) rs909217
NM_001360.2(DHCR7):c.189G>A (p.Gln63=) rs1044482
NM_001360.2(DHCR7):c.207T>C (p.Thr69=) rs1790334
NM_001360.2(DHCR7):c.231C>T (p.Thr77=) rs4316537
NM_001360.2(DHCR7):c.321+10C>T rs377108406
NM_001360.2(DHCR7):c.321+34C>A rs76865413
NM_001360.2(DHCR7):c.438T>C (p.Asn146=) rs949177
NM_001360.2(DHCR7):c.570C>T (p.Ala190=) rs74909468
NM_001360.2(DHCR7):c.626+15G>A rs736894
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001365068.1(ASTN2):c.2806+25938G>A rs3019
NM_001365951.2(KIF1B):c.*249_*250CA[15] rs111663673
NM_001377.3(DYNC2H1):c.10043-15G>T rs648387
NM_001377.3(DYNC2H1):c.10164T>G (p.Thr3388=) rs11225634
NM_001377.3(DYNC2H1):c.10773G>A (p.Thr3591=) rs12574626
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val) rs10895391
NM_001377.3(DYNC2H1):c.11649+12C>A rs79978663
NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=) rs2566913
NM_001377.3(DYNC2H1):c.12366+7G>A rs10895417
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=) rs585692
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=) rs11225584
NM_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=) rs658804
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=) rs586592
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623
NM_001382.4(DPAGT1):c.*184G>A rs8551
NM_001382.4(DPAGT1):c.*417T>C rs7759
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val) rs643788
NM_001429.4(EP300):c.*10_*12GTA[1] rs35508493
NM_001429.4(EP300):c.2053+8G>T rs6002267
NM_001429.4(EP300):c.2380-15T>C rs17002316
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001615.4(ACTG2):c.354A>G (p.Glu118=)
NM_001692.4(ATP6V1B1):c.*12G>A rs77794859
NM_001692.4(ATP6V1B1):c.-34C>T rs79652147
NM_001692.4(ATP6V1B1):c.-89A>G rs11685700
NM_001692.4(ATP6V1B1):c.1002C>T (p.Arg334=) rs2072462
NM_001692.4(ATP6V1B1):c.1248+9A>G rs78140305
NM_001692.4(ATP6V1B1):c.138C>T (p.Ser46=) rs2266918
NM_001692.4(ATP6V1B1):c.27T>C (p.Pro9=) rs17853498
NM_001692.4(ATP6V1B1):c.2T>C (p.Met1Thr) rs11681642
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=) rs116139984
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303
NM_001710.5(CFB):c.1365C>T (p.Val455=) rs2072634
NM_001710.5(CFB):c.450A>G (p.Arg150=) rs1048709
NM_001710.5(CFB):c.94C>T (p.Arg32Trp) rs12614
NM_001710.5(CFB):c.95G>A (p.Arg32Gln) rs641153
NM_001715.3(BLK):c.116C>T (p.Pro39Leu) rs142352008
NM_001715.3(BLK):c.164A>G (p.His55Arg) rs202053568
NM_001715.3(BLK):c.252G>C (p.Lys84Asn) rs778435147
NM_001715.3(BLK):c.301G>A (p.Val101Ile) rs371256341
NM_001715.3(BLK):c.344G>A (p.Arg115Gln) rs367628135
NM_001715.3(BLK):c.392G>A (p.Arg131Gln) rs144615291
NM_001845.6(COL4A1):c.*587C>A rs13260
NM_001845.6(COL4A1):c.-90G>T rs113651836
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329
NM_001845.6(COL4A1):c.1084+5C>G rs74508743
NM_001845.6(COL4A1):c.1257T>C (p.Pro419=) rs995224
NM_001845.6(COL4A1):c.1663= (p.Pro555=) rs536174
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) rs61749897
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) rs9515185
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) rs78426988
NM_001845.6(COL4A1):c.2130G>A (p.Pro710=) rs16975492
NM_001845.6(COL4A1):c.234+8C>T rs9521650
NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=) rs874204
NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=) rs874203
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) rs117738194
NM_001845.6(COL4A1):c.3877-9C>T rs589985
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) rs3742207
NM_001845.6(COL4A1):c.432T>A (p.Ala144=) rs532625
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=) rs1133219
NM_001845.6(COL4A1):c.4640+7C>T rs2275843
NM_001845.6(COL4A1):c.468+5ATTTT[2] rs3832900
NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=) rs650724
NM_001845.6(COL4A1):c.616-11G>C rs645114
NM_001845.6(COL4A1):c.780+7G>A rs598893
NM_001845.6(COL4A1):c.808-7C>A rs9588116
NM_001845.6(COL4A1):c.808-7C>G rs9588116
NM_001845.6(COL4A1):c.85-11T>C rs41275104
NM_001845.6(COL4A1):c.859-10T>C rs677877
NM_001845.6(COL4A1):c.958-9C>T rs73611465
NM_001846.4(COL4A2):c.-133A>G rs35466678
NM_001846.4(COL4A2):c.-203T>C rs7991332
NM_001846.4(COL4A2):c.-215C>T rs7990017
NM_001846.4(COL4A2):c.-232C>G rs7990009
NM_001846.4(COL4A2):c.-277A>C rs7989823
NM_002204.4(ITGA3):c.1469+10T>C rs4793639
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183
NM_002292.4(LAMB2):c.1724G>A (p.Arg575Gln) rs61729152
NM_002292.4(LAMB2):c.1764C>T (p.Pro588=) rs33942096
NM_002292.4(LAMB2):c.2740G>A (p.Gly914Arg) rs35713889
NM_002292.4(LAMB2):c.306C>T (p.Asn102=) rs79448908
NM_002292.4(LAMB2):c.5026G>A (p.Gly1676Arg) rs200747448
NM_002292.4(LAMB2):c.5027G>T (p.Gly1676Val) rs199580679
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=) rs150465100
NM_002292.4(LAMB2):c.5293G>A (p.Ala1765Thr) rs74951356
NM_002316.3(LMX1B):c.*1255A>G rs16929236
NM_002316.3(LMX1B):c.*1304G>A rs73596779
NM_002316.3(LMX1B):c.*1389T>G rs13300385
NM_002316.3(LMX1B):c.*1393G>T rs13299451
NM_002316.3(LMX1B):c.*1473G>A rs13299609
NM_002316.3(LMX1B):c.*1582A>G rs10987415
NM_002316.3(LMX1B):c.*1666C>T rs10987416
NM_002316.3(LMX1B):c.*1992T>C rs34776870
NM_002316.3(LMX1B):c.*1997G>A rs35632228
NM_002316.3(LMX1B):c.*2184A>G rs10733682
NM_002316.3(LMX1B):c.*2393T>C rs10120414
NM_002316.3(LMX1B):c.*2394G>C rs10760451
NM_002316.3(LMX1B):c.*2590_*2591del rs398069012
NM_002316.3(LMX1B):c.*27G>A rs10115373
NM_002316.3(LMX1B):c.*2984C>T rs4083644
NM_002316.3(LMX1B):c.*3182A>G rs3861878
NM_002316.3(LMX1B):c.*3342T>C rs4083645
NM_002316.3(LMX1B):c.*3346G>A rs7023938
NM_002316.3(LMX1B):c.*3771G>T rs10987417
NM_002316.3(LMX1B):c.*3833A>G rs10987418
NM_002316.3(LMX1B):c.*3864T>C rs10987419
NM_002316.3(LMX1B):c.*3881G>T rs10987421
NM_002316.3(LMX1B):c.*3957C>A rs10987422
NM_002316.3(LMX1B):c.*4171T>C rs3814119
NM_002316.3(LMX1B):c.*451C>T rs71497630
NM_002316.3(LMX1B):c.*51A>G rs10121481
NM_002316.3(LMX1B):c.*584C>T rs34200683
NM_002316.3(LMX1B):c.*708G>A rs10987413
NM_002316.3(LMX1B):c.*748C>T rs10987414
NM_002316.3(LMX1B):c.*79G>A rs10115393
NM_002316.3(LMX1B):c.*898C>T rs10760450
NM_002316.3(LMX1B):c.*932G>T rs28687510
NM_002316.3(LMX1B):c.1086C>T (p.Ser362=) rs10115304
NM_002316.3(LMX1B):c.326+7G>C rs1336980
NM_002316.3(LMX1B):c.441A>G (p.Glu147=) rs2277158
NM_002316.3(LMX1B):c.726G>C (p.Ser242=) rs13295990
NM_002381.5(MATN3):c.*176C>T rs7569975
NM_002381.5(MATN3):c.1406-4C>T rs35973216
NM_002382.5(MAX):c.*1127G>C rs4902357
NM_002382.5(MAX):c.*404C>T rs4902359
NM_002382.5(MAX):c.*461C>T rs183428804
NM_002382.5(MAX):c.*565G>A rs1957948
NM_002382.5(MAX):c.*587G>A rs1957949
NM_002382.5(MAX):c.*717T>C rs4902358
NM_002382.5(MAX):c.*92G>A rs45604339
NM_002389.4(CD46):c.*897T>C rs7144
NM_002473.5(MYH9):c.*1160del rs56058205
NM_002473.5(MYH9):c.*1314C>T rs2481
NM_002473.5(MYH9):c.*136C>A rs115869378
NM_002473.5(MYH9):c.*137C>A rs114268057
NM_002473.5(MYH9):c.*238G>T rs11703176
NM_002473.5(MYH9):c.*261G>C rs11089787
NM_002473.5(MYH9):c.*312C>T rs16996639
NM_002473.5(MYH9):c.*596G>A rs136200
NM_002473.5(MYH9):c.*732C>T rs12107
NM_002473.5(MYH9):c.*800T>C rs7078
NM_002473.5(MYH9):c.1554+7A>G rs3752462
NM_002473.5(MYH9):c.1728+10G>A rs2413396
NM_002473.5(MYH9):c.2256T>C (p.Asn752=) rs9619601
NM_002473.5(MYH9):c.2900T>A (p.Val967Glu) rs16996652
NM_002473.5(MYH9):c.3100+11G>C rs41279999
NM_002473.5(MYH9):c.3345A>G (p.Glu1115=) rs875725
NM_002473.5(MYH9):c.3429T>G (p.Ala1143=) rs710181
NM_002473.5(MYH9):c.3838-8C>T rs145429636
NM_002473.5(MYH9):c.4563C>T (p.His1521=) rs11549907
NM_002473.5(MYH9):c.4872G>T (p.Ala1624=) rs2269530
NM_002473.5(MYH9):c.4876A>G (p.Ile1626Val) rs2269529
NM_002473.5(MYH9):c.4899G>A (p.Arg1633=) rs5756130
NM_002473.5(MYH9):c.5766-3del rs141686520
NM_002473.5(MYH9):c.5781G>T (p.Pro1927=) rs80050551
NM_002618.4(PEX13):c.*2147A>G rs2564097
NM_002618.4(PEX13):c.*358G>A rs1177230
NM_002618.4(PEX13):c.*952C>T rs56739127
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038
NM_002693.2(POLG):c.*49dup rs3087377
NM_002693.2(POLG):c.3105-11T>C rs2302084
NM_002693.2(POLG):c.3643+257T>G rs1061316
NM_002693.2(POLG):c.3643+258A>G rs1860021
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374
NM_002743.3(PRKCSH):c.*185T>C rs8616
NM_002743.3(PRKCSH):c.79+10_79+12del rs143936796
NM_002743.3(PRKCSH):c.850-14T>C rs186375
NM_002743.3(PRKCSH):c.871G>A (p.Ala291Thr) rs11557488
NM_002743.3(PRKCSH):c.939_941GGA[9] (p.Glu325del) rs3217229
NM_002834.3:c.1-140delG
NM_002834.4(PTPN11):c.137+35G>A rs727505387
NM_002834.4(PTPN11):c.14+25G>C rs7972574
NM_002834.4(PTPN11):c.14+54C>A rs7973432
NM_002834.4(PTPN11):c.15-38C>T rs727505378
NM_002834.4(PTPN11):c.1599+26G>A rs727505390
NM_002834.4(PTPN11):c.1599+33A>G rs727505380
NM_002834.4(PTPN11):c.1600-95C>T rs3741983
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.525+12G>C rs41304351
NM_002834.4(PTPN11):c.526-8C>A rs184804143
NM_002834.4(PTPN11):c.757-69T>C rs150087259
NM_002834.4(PTPN11):c.854-21C>T rs41279090
NM_002834.4(PTPN11):c.854-30T>C rs144391508
NM_002834.4(PTPN11):c.854-32A>C rs187389813
NM_002857.3(PEX19):c.*2156C>G rs10594
NM_002968.2(SALL1):c.*588del rs35929381
NM_002968.2(SALL1):c.*997C>A rs116971887
NM_002968.2(SALL1):c.1878G>C (p.Glu626Asp) rs80248061
NM_002968.2(SALL1):c.2310C>T (p.Ile770=) rs61740811
NM_002968.2(SALL1):c.2343G>C (p.Leu781=) rs60270998
NM_002968.2(SALL1):c.235G>C (p.Ala79Pro) rs536108231
NM_002968.2(SALL1):c.2574C>T (p.Leu858=) rs1965024
NM_002968.2(SALL1):c.264C>T (p.Ser88=) rs143501736
NM_002968.2(SALL1):c.3456C>T (p.His1152=) rs11645288
NM_002968.2(SALL1):c.3823G>A (p.Val1275Ile) rs4614723
NM_002968.2(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562
NM_002968.2(SALL1):c.475A>G (p.Ser159Gly) rs13336129
NM_002968.2(SALL1):c.475_477delAGC rs113614842
NM_002968.2(SALL1):c.809C>T (p.Pro270Leu) rs140827311
NM_003000.2(SDHB):c.18C>A (p.Ala6=) rs2746462
NM_003000.2(SDHB):c.423+20T>A rs190139590
NM_003000.2(SDHB):c.424-37TTC[10] rs34261028
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_003001.3(SDHC):c.*1025G>T rs16832859
NM_003001.3(SDHC):c.*1181_*1182insA rs34067216
NM_003001.3(SDHC):c.*123C>G rs3813632
NM_003001.3(SDHC):c.*1335A>G rs3935401
NM_003001.3(SDHC):c.*1379C>T rs114731359
NM_003001.3(SDHC):c.*1800G>C rs72714988
NM_003001.3(SDHC):c.*2052C>G rs12239492
NM_003001.3(SDHC):c.*2156A>C rs116668612
NM_003001.3(SDHC):c.*2318del rs57914150
NM_003001.3(SDHC):c.*247C>G rs540126021
NM_003001.3(SDHC):c.*385G>A rs8266
NM_003001.3(SDHC):c.*469G>A rs148834287
NM_003001.3(SDHC):c.*612C>T rs16865495
NM_003001.3(SDHC):c.*624A>G rs114438179
NM_003001.3(SDHC):c.*968A>G rs4600063
NM_003001.3(SDHC):c.-32T>C rs115782155
NM_003001.3(SDHC):c.-38G>A rs112556972
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003002.4(SDHD):c.*260T>A rs149570245
NM_003002.4(SDHD):c.*532A>T rs146261846
NM_003002.4(SDHD):c.*613T>C rs693441
NM_003002.4(SDHD):c.*803A>G rs17113461
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_003361.3(UMOD):c.*104C>T rs111699931
NM_003361.3(UMOD):c.*130C>T rs113468667
NM_003361.3(UMOD):c.-47T>C rs75645968
NM_003361.3(UMOD):c.-56G>A rs79245268
NM_003361.3(UMOD):c.1372G>T (p.Val458Leu) rs55772253
NM_003361.3(UMOD):c.1458C>T (p.Tyr486=) rs141800038
NM_003361.3(UMOD):c.264C>T (p.Gly88=) rs77875418
NM_003361.3(UMOD):c.425G>A (p.Arg142Gln) rs199835347
NM_003361.3(UMOD):c.522C>T (p.Cys174=) rs7193058
NM_003361.3(UMOD):c.538C>G (p.Leu180Val) rs187555378
NM_003361.3(UMOD):c.792G>A (p.Val264=) rs13335818
NM_003361.3(UMOD):c.840C>T (p.Pro280=) rs78691203
NM_003361.3(UMOD):c.885G>A (p.Gly295=) rs28544423
NM_003590.5(CUL3):c.*1774G>T rs13016316
NM_003590.5(CUL3):c.*2073A>G rs10498161
NM_003590.5(CUL3):c.*2192T>C rs3768898
NM_003590.5(CUL3):c.*2193G>A rs73993899
NM_003590.5(CUL3):c.*2431G>T rs10498160
NM_003590.5(CUL3):c.*2653G>A rs3768899
NM_003590.5(CUL3):c.*3148A>G rs17479770
NM_003590.5(CUL3):c.*3367T>C rs4674908
NM_003590.5(CUL3):c.*3672T>C rs2396092
NM_003590.5(CUL3):c.*3736del rs5839066
NM_003590.5(CUL3):c.*3789C>T rs4234054
NM_003590.5(CUL3):c.*3991A>G rs12470077
NM_003590.5(CUL3):c.*940C>T rs3768897
NM_003590.5(CUL3):c.1485+13G>A rs3754629
NM_003590.5(CUL3):c.1699G>A (p.Val567Ile) rs3738952
NM_003590.5(CUL3):c.1992A>G (p.Gln664=) rs2070127
NM_003611.2:c.441+65A>G
NM_003611.3(OFD1):c.-296G>T rs2285635
NM_003611.3(OFD1):c.111+3A>G rs312262804
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile) rs780521580
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) rs149473481
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.3(OFD1):c.654+29G>A rs312262805
NM_003630.3(PEX3):c.*319A>T rs223234
NM_003630.3(PEX3):c.942-13A>G rs161058
NM_003742.4(ABCB11):c.*236A>G rs473351
NM_003742.4(ABCB11):c.*368G>A rs495714
NM_003742.4(ABCB11):c.*420A>G rs496550
NM_003742.4(ABCB11):c.108T>C (p.Asp36=) rs3815675
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) rs2287622
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=) rs497692
NM_003742.4(ABCB11):c.807T>C (p.Tyr269=) rs2287616
NM_003742.4(ABCB11):c.909-15A>G rs2287618
NM_003742.4(ABCB11):c.957A>G (p.Gly319=) rs7563233
NM_003990.5(PAX2):c.43+10G>C rs4472867
NM_003990.5(PAX2):c.978A>C (p.Pro326=) rs1800898
NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly) rs10927887
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) rs35964044
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr) rs111387770
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) rs6960
NM_004252.5(SLC9A3R1):c.328C>G (p.Leu110Val) rs35910969
NM_004285.4(H6PD):c.745+88T>A rs12032814
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696
NM_004371.4(COPA):c.1741C>T (p.Leu581=) rs79304843
NM_004371.4(COPA):c.436A>G (p.Thr146Ala) rs57425682
NM_004484.3(GPC3):c.1500T>C (p.Asp500=) rs2314298
NM_004484.3(GPC3):c.1626A>G (p.Ala542=) rs61754631
NM_004484.3(GPC3):c.338-5del rs370737647
NM_004509.4(SP110):c.*206_*207insAATTAA rs5839361
NM_004509.4(SP110):c.1038G>C (p.Ser346=) rs7606916
NM_004509.4(SP110):c.1568T>C (p.Met523Thr) rs1135791
NM_004509.4(SP110):c.1591-9C>T rs202101309
NM_004509.4(SP110):c.376G>A (p.Gly126Ser) rs41309088
NM_004509.4(SP110):c.383C>T (p.Ala128Val) rs11556887
NM_004509.4(SP110):c.584-9C>T rs41309096
NM_004509.4(SP110):c.617C>T (p.Ala206Val) rs28930679
NM_004509.4(SP110):c.619G>A (p.Glu207Lys) rs9061
NM_004509.4(SP110):c.895G>A (p.Gly299Arg) rs1365776
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375
NM_004565.3(PEX14):c.384+14A>T rs284238
NM_004621.6(TRPC6):c.*553T>G rs7931399
NM_004621.6(TRPC6):c.*710_*711insTTTA rs145266305
NM_004621.6(TRPC6):c.-218C>T rs56134796
NM_004621.6(TRPC6):c.-254C>G rs3824934
NM_004621.6(TRPC6):c.-361A>T rs41302375
NM_004621.6(TRPC6):c.1211C>T (p.Ala404Val) rs36111323
NM_004621.6(TRPC6):c.1683T>C (p.Asn561=) rs12366144
NM_004621.6(TRPC6):c.2115C>T (p.Tyr705=) rs61743044
NM_004621.6(TRPC6):c.2529C>T (p.Phe843=) rs72984209
NM_004621.6(TRPC6):c.2712G>A (p.Gln904=) rs12805398
NM_004621.6(TRPC6):c.43C>T (p.Pro15Ser) rs3802829
NM_004629.1(FANCG):c.-392A>G rs10972302
NM_004629.1(FANCG):c.-453_-452insT rs16935545
NM_004629.1(FANCG):c.-490G>T rs10972303
NM_004629.1(FANCG):c.1636+7A>G rs587118
NM_004646.3(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747
NM_004646.3(NPHS1):c.1320C>T (p.Pro440=) rs392702
NM_004646.3(NPHS1):c.2289C>T (p.Val763=) rs437168
NM_004646.3(NPHS1):c.3230A>G (p.Asn1077Ser) rs4806213
NM_004646.3(NPHS1):c.3315G>A (p.Ser1105=) rs2071327
NM_004646.3(NPHS1):c.349G>A (p.Glu117Lys) rs3814995
NM_004646.3(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257
NM_004895.4(NLRP3):c.*177del rs796764638
NM_004895.4(NLRP3):c.*230G>C rs10754558
NM_004895.4(NLRP3):c.*351dup rs397821684
NM_004895.4(NLRP3):c.*396T>A rs10802501
NM_004895.4(NLRP3):c.*489C>T rs10802502
NM_004895.4(NLRP3):c.-34G>T rs73136263
NM_004895.4(NLRP3):c.-405T>C rs7523422
NM_004895.4(NLRP3):c.-555T>G rs72771992
NM_004895.4(NLRP3):c.1308C>T (p.Ser436=) rs34298354
NM_004895.4(NLRP3):c.2113C>A (p.Gln705Lys) rs35829419
NM_004895.4(NLRP3):c.663C>T (p.Thr221=) rs7525979
NM_004895.4(NLRP3):c.732G>A (p.Ala244=) rs3806268
NM_004924.6(ACTN4):c.1977T>C (p.Asn659=) rs12986337
NM_004924.6(ACTN4):c.2563T>C (p.Leu855=) rs1136956
NM_004924.6(ACTN4):c.537G>A (p.Pro179=) rs11553600
NM_004924.6(ACTN4):c.546C>T (p.Asn182=) rs3745859
NM_004972.3(JAK2):c.*1119G>T rs12000101
NM_004972.3(JAK2):c.-197T>C rs2274472
NM_004972.3(JAK2):c.2490G>A (p.Leu830=) rs2230724
NM_004972.3(JAK2):c.489C>T (p.His163=) rs2230722
NM_005236.2(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955
NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124
NM_005236.2(ERCC4):c.2655G>A (p.Thr885=) rs16963255
NM_005236.2(ERCC4):c.33C>T (p.Ala11=) rs3136042
NM_005461.5(MAFB):c.*1592del rs3215567
NM_005461.5(MAFB):c.*1849C>T rs3577
NM_005461.5(MAFB):c.*2008T>A rs56049320
NM_005461.5(MAFB):c.*929dup rs11482617
NM_005506.4(SCARB2):c.475A>G (p.Met159Val) rs143655258
NM_005603.6(ATP8B1):c.*1254T>C rs17685852
NM_005603.6(ATP8B1):c.*1509A>G rs1968274
NM_005603.6(ATP8B1):c.*1937T>A rs1129621
NM_005603.6(ATP8B1):c.*2015del rs35833803
NM_005603.6(ATP8B1):c.*283G>A rs11152024
NM_005603.6(ATP8B1):c.*587G>A rs317822
NM_005603.6(ATP8B1):c.*900G>T rs4940950
NM_005603.6(ATP8B1):c.-103C>T rs1848701
NM_005603.6(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100
NM_005603.6(ATP8B1):c.2098-30_2098-25dup rs34422185
NM_005603.6(ATP8B1):c.2098-30_2098-27dup rs34422185
NM_005603.6(ATP8B1):c.3532-15C>T rs12958967
NM_005603.6(ATP8B1):c.696T>C (p.Asp232=) rs319438
NM_005603.6(ATP8B1):c.811A>C (p.Arg271=) rs319443
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.1203-20T>C rs112906251
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.2673+14T>C rs183998234
NM_005633.3(SOS1):c.2791+53C>T rs7577088
NM_005633.3(SOS1):c.2964+32T>G rs727505384
NM_005633.3(SOS1):c.3081+26G>A rs186106971
NM_005633.3(SOS1):c.3081+32A>G rs6723430
NM_005633.3(SOS1):c.3347-20T>G rs727505382
NM_005633.3(SOS1):c.720+25C>G rs997344
NM_005633.3:c.213+15C>G
NM_005982.4(SIX1):c.*265del rs112733948
NM_005982.4(SIX1):c.*334C>G rs10144415
NM_005982.4(SIX1):c.*766del rs33943216
NM_005989.4(AKR1D1):c.*1163T>C rs11763063
NM_005989.4(AKR1D1):c.*1274A>G rs11766258
NM_005989.4(AKR1D1):c.*1417C>T rs17169522
NM_005989.4(AKR1D1):c.*36C>T rs1872930
NM_005989.4(AKR1D1):c.*507G>A rs7780066
NM_005989.4(AKR1D1):c.*5A>C rs1872929
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551
NM_006580.3(CLDN16):c.*1763T>A rs9844654
NM_006580.3(CLDN16):c.*794T>C rs2293532
NM_006580.3(CLDN16):c.166G>C (p.Ala56Pro) rs3214506
NM_006580.3(CLDN16):c.324+10T>C rs1491994
NM_006642.5(SDCCAG8):c.-47T>A rs3904682
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp) rs2275155
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=) rs10927011
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=) rs976529
NM_006929.5(SKIV2L):c.3201T>C (p.Tyr1067=) rs410851
NM_006929.5(SKIV2L):c.3212C>T (p.Ala1071Val) rs449643
NM_006929.5(SKIV2L):c.640A>C (p.Met214Leu) rs437179
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088
NM_006953.4(UPK3A):c.402C>T (p.Val134=) rs2673088
NM_006953.4(UPK3A):c.460G>C (p.Ala154Pro) rs1057353
NM_006953.4(UPK3A):c.549A>G (p.Ser183=) rs1135360
NM_007214.4(SEC63):c.*3959dupT rs112734053
NM_007214.5(SEC63):c.*123T>A rs503068
NM_007214.5(SEC63):c.*1398A>C rs556907
NM_007214.5(SEC63):c.*1526T>C rs557911
NM_007214.5(SEC63):c.*1705G>A rs672444
NM_007214.5(SEC63):c.*1790_*1793del rs150602806
NM_007214.5(SEC63):c.*1901A>G rs10872020
NM_007214.5(SEC63):c.*1926_*1931del rs55885857
NM_007214.5(SEC63):c.*2504dup rs113337131
NM_007214.5(SEC63):c.*2662G>A rs513325
NM_007214.5(SEC63):c.*2705T>C rs687374
NM_007214.5(SEC63):c.*2811C>T rs74799313
NM_007214.5(SEC63):c.*3334C>T rs112894937
NM_007214.5(SEC63):c.*3393C>T rs592939
NM_007214.5(SEC63):c.*3431A>C rs592989
NM_007214.5(SEC63):c.*3480del rs56104837
NM_007214.5(SEC63):c.*3497A>G rs6933329
NM_007214.5(SEC63):c.*3574_*3575insGAC rs10685655
NM_007214.5(SEC63):c.*3580G>A rs847120
NM_007214.5(SEC63):c.-77C>T rs2272884
NM_007214.5(SEC63):c.1936-7_1936-5dup rs766716921
NM_007214.5(SEC63):c.340-12_340-10del rs200904488
NM_007214.5(SEC63):c.340-12_340-11del rs139413431
NM_007214.5(SEC63):c.340-12_340-8del rs747514864
NM_007214.5(SEC63):c.340-12del rs58827902
NM_007214.5(SEC63):c.340-9_340-7del rs66526324
NM_007214.5(SEC63):c.564C>T (p.Asn188=) rs675117
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007300.4(BRCA1):c.2311T>C (p.Leu771=) rs16940
NM_012120.3(CD2AP):c.*2039T>C rs1043276
NM_012120.3(CD2AP):c.*2228dup rs138722443
NM_012120.3(CD2AP):c.*2339T>C rs2152796
NM_012120.3(CD2AP):c.*2759G>A rs719856
NM_012120.3(CD2AP):c.*367del rs797004904
NM_012120.3(CD2AP):c.*500A>G rs35361796
NM_012120.3(CD2AP):c.*502A>G rs35274349
NM_012120.3(CD2AP):c.-192A>C rs1056434
NM_012120.3(CD2AP):c.-441C>G rs111766401
NM_012120.3(CD2AP):c.-54T>A rs9349406
NM_012120.3(CD2AP):c.1204C>T (p.Leu402=) rs2039503
NM_012203.1(GRHPR):c.866-25CT[9] rs34302950
NM_012203.2(GRHPR):c.288-11C>T rs2736664
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) rs309458
NM_012224.3(NEK1):c.1068G>A (p.Arg356=) rs17055010
NM_012224.3(NEK1):c.1081-15dup rs398124255
NM_012224.3(NEK1):c.1146T>C (p.Ile382=) rs56064008
NM_012224.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355
NM_012224.3(NEK1):c.1746A>G (p.Glu582=) rs17544885
NM_012224.3(NEK1):c.2171A>G (p.Glu724Gly) rs34099167
NM_012224.3(NEK1):c.2681-20G>A rs7680152
NM_012224.3(NEK1):c.2949G>A (p.Pro983=) rs7655924
NM_012224.3(NEK1):c.607-3T>C rs55679731
NM_012431.3(SEMA3E):c.1566T>C (p.Tyr522=) rs61636768
NM_014140.3(SMARCAL1):c.-218C>T rs3755141
NM_014140.3(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518
NM_014140.3(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.3(SMARCAL1):c.901C>G (p.Pro301Ala) rs146084305
NM_014140.3(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522
NM_014140.3(SMARCAL1):c.960C>T (p.Ala320=) rs2066513
NM_014270.5(SLC7A9):c.-172T>A rs2287876
NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met) rs1007160
NM_014324.6(AMACR):c.*227T>G rs6863560
NM_014324.6(AMACR):c.*663G>A rs15612
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser) rs2287939
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008
NM_014425.5(INVS):c.-110T>G rs7024375
NM_014425.5(INVS):c.1235-5T>C rs2245216
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898
NM_014425.5(INVS):c.2412T>C (p.Ser804=) rs2787374
NM_014425.5(INVS):c.274-15_274-14del rs61147858
NM_014425.5(INVS):c.913G>A (p.Val305Ile) rs116438342
NM_014604.4(TAX1BP3):c.*810G>A rs7093
NM_014625.3(NPHS2):c.102A>G (p.Gly34=) rs1079292
NM_014625.3(NPHS2):c.288C>T (p.Ser96=) rs3738423
NM_014630.3(ZNF592):c.2238A>G (p.Gln746=) rs2241645
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn) rs8182086
NM_014639.4(TTC37):c.3015-4del
NM_014714.4(IFT140):c.*59T>C rs1053730
NM_014714.4(IFT140):c.-17G>C rs1894649
NM_014714.4(IFT140):c.1862G>A (p.Arg621Gln) rs11648609
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640
NM_014714.4(IFT140):c.3079G>A (p.Gly1027Arg) rs137995818
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638
NM_014714.4(IFT140):c.3270+19T>C rs2745176
NM_014714.4(IFT140):c.635-12G>C rs12447357
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350
NM_014956.5(CEP164):c.1430A>G (p.His477Arg) rs117083334
NM_014956.5(CEP164):c.2205C>T (p.Ser735=) rs494553
NM_014956.5(CEP164):c.3216+20_3216+33del rs200103555
NM_014956.5(CEP164):c.3716C>T (p.Pro1239Leu) rs61995733
NM_014956.5(CEP164):c.4053G>A (p.Thr1351=) rs373842310
NM_014956.5(CEP164):c.4119C>T (p.Asn1373=) rs73016324
NM_015074.3(KIF1B):c.*2042C>T rs1536262
NM_015074.3(KIF1B):c.*2247G>A rs1002076
NM_015074.3(KIF1B):c.*3911A>G rs1138791
NM_015074.3(KIF1B):c.*5019T>C rs3748581
NM_015074.3(KIF1B):c.1639+10C>T rs3753037
NM_015074.3(KIF1B):c.285C>G (p.Ala95=) rs12402052
NM_015074.3(KIF1B):c.5163C>A (p.Thr1721=) rs11121552
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401
NM_015102.5(NPHP4):c.2802C>T (p.Arg934=) rs3747992
NM_015102.5(NPHP4):c.2818-2= rs1217117155
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357
NM_015102.5(NPHP4):c.3570A>G (p.Glu1190=) rs555164
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met) rs144624477
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro) rs34628045
NM_015120.4(ALMS1):c.2193C>T (p.Phe731=) rs7598901
NM_015120.4(ALMS1):c.36_38GGA[10] (p.Glu26_Glu29del) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[12] (p.Glu28_Glu29del) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[13] (p.Glu29del) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[16] (p.Glu28_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.36_38GGA[17] (p.Glu27_Glu29dup) rs55889738
NM_015120.4(ALMS1):c.4241G>C (p.Gly1414Ala) rs886038612
NM_015120.4(ALMS1):c.5623A>G (p.Lys1875Glu) rs886038614
NM_015120.4(ALMS1):c.6857G>C (p.Arg2286Pro) rs6546839
NM_015120.4(ALMS1):c.9785-9C>T rs10199680
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) rs200780796
NM_015559.3(SETBP1):c.*2901A>C rs7244247
NM_015559.3(SETBP1):c.*2966del rs777732826
NM_015559.3(SETBP1):c.*2987del rs34125334
NM_015559.3(SETBP1):c.*4753del rs10715988
NM_015559.3(SETBP1):c.*813C>G rs7233404
NM_015559.3(SETBP1):c.1879C>T (p.Arg627Cys) rs146193261
NM_015559.3(SETBP1):c.3301G>A (p.Val1101Ile) rs3744825
NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr) rs1064204
NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=) rs8096662
NM_015559.3(SETBP1):c.4000+10T>A rs3786177
NM_015559.3(SETBP1):c.4640C>A (p.Thr1547Asn) rs201973930
NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT rs3085861
NM_015559.3(SETBP1):c.691G>C (p.Val231Leu) rs11082414
NM_015662.3(IFT172):c.2723G>A (p.Arg908Gln) rs61747073
NM_015665.6(AAAS):c.855C>T (p.Phe285=) rs1546808
NM_015681.5(B9D1):c.472+28C>T rs4924987
NM_015910.7(WDPCP):c.*624_*625del rs139878372
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165
NM_015910.7(WDPCP):c.1915+13G>A rs992214
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_016122.3(CEP83):c.1411C>T (p.Leu471=) rs139046818
NM_016341.4(PLCE1):c.-135G>A rs10882386
NM_016341.4(PLCE1):c.-558A>G rs2911857
NM_016341.4(PLCE1):c.1643G>T (p.Arg548Leu) rs17417407
NM_016341.4(PLCE1):c.4724G>C (p.Arg1575Pro) rs2274224
NM_016341.4(PLCE1):c.5035+12C>A rs3736901
NM_016341.4(PLCE1):c.5330C>T (p.Thr1777Ile) rs3765524
NM_016341.4(PLCE1):c.5780A>G (p.His1927Arg) rs2274223
NM_016341.4(PLCE1):c.6324C>G (p.Val2108=) rs942676
NM_016341.4(PLCE1):c.810T>C (p.Cys270=) rs17109671
NM_016341.4(PLCE1):c.960G>A (p.Glu320=) rs17109674
NM_016356.5(DCDC2):c.183C>T (p.Ala61=) rs33943110
NM_016356.5(DCDC2):c.294-21GTTT[2] rs374485384
NM_016356.5(DCDC2):c.454C>G (p.Pro152Ala) rs33914824
NM_016592.4(GNAS):c.*43-6389CGGCG[3]
NM_017415.3(KLHL3):c.*1104G>A rs7444370
NM_017415.3(KLHL3):c.*1310C>T rs2057680
NM_017415.3(KLHL3):c.*2080A>C rs3813318
NM_017415.3(KLHL3):c.*2404C>A rs3813316
NM_017415.3(KLHL3):c.*2926T>C rs3813315
NM_017415.3(KLHL3):c.*3068A>G rs3813314
NM_017415.3(KLHL3):c.*3205A>T rs35251512
NM_017415.3(KLHL3):c.*3338del rs58917494
NM_017415.3(KLHL3):c.*4210A>G rs6863414
NM_017415.3(KLHL3):c.1383G>A (p.Glu461=) rs2301708
NM_017415.3(KLHL3):c.1611G>T (p.Gly537=) rs17171525
NM_017415.3(KLHL3):c.471A>G (p.Ala157=) rs2905608
NM_017662.5(TRPM6):c.*788_*789AT[8] rs143924458
NM_017662.5(TRPM6):c.1872T>C (p.Ala624=) rs12349050
NM_017662.5(TRPM6):c.2124T>G (p.Leu708=) rs7859201
NM_017662.5(TRPM6):c.2442G>A (p.Gln814=) rs4145894
NM_017662.5(TRPM6):c.4177G>A (p.Val1393Ile) rs3750425
NM_017662.5(TRPM6):c.4750A>G (p.Lys1584Glu) rs2274924
NM_017662.5(TRPM6):c.4764T>C (p.Asn1588=) rs2274925
NM_017662.5(TRPM6):c.954C>T (p.Gly318=) rs7018994
NM_017780.4(CHD7):c.*1189A>C rs4738834
NM_017780.4(CHD7):c.*127del rs11322994
NM_017780.4(CHD7):c.*1444T>G rs4237040
NM_017780.4(CHD7):c.*1728T>C rs2280917
NM_017780.4(CHD7):c.*1797C>T rs6985168
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435
NM_017780.4(CHD7):c.3202-5T>C rs147994149
NM_017780.4(CHD7):c.6103+8C>T rs3763592
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820
NM_017827.4(SARS2):c.-12T>C rs730078
NM_017841.2(SDHAF2):c.*377T>C rs17702
NM_017841.2(SDHAF2):c.*378G>A rs7935377
NM_017841.2(SDHAF2):c.*415A>G rs61132686
NM_017841.2(SDHAF2):c.*456A>G rs6632
NM_017849.3(TMEM127):c.*1301T>C rs3770239
NM_017849.3(TMEM127):c.*1958A>C rs7058
NM_017849.3(TMEM127):c.621G>A (p.Ala207=) rs3852673
NM_017929.6(PEX26):c.*1265T>A rs456551
NM_017929.6(PEX26):c.*1532_*1535dup rs361782
NM_017929.6(PEX26):c.*1635G>C rs361703
NM_017929.6(PEX26):c.*1661_*1662insACTC rs361571
NM_017929.6(PEX26):c.*167G>A rs464385
NM_017929.6(PEX26):c.*2051A>G rs361946
NM_017929.6(PEX26):c.*2281T>C rs362209
NM_017929.6(PEX26):c.*829A>G rs362057
NM_017929.6(PEX26):c.*987T>C rs361807
NM_017929.6(PEX26):c.457C>G (p.Leu153Val) rs12484657
NM_017935.5(BANK1):c.120G>C (p.Trp40Cys) rs35978636
NM_018006.5(TRMU):c.*276G>A rs13585
NM_018006.5(TRMU):c.*43T>G rs113302712
NM_018006.5(TRMU):c.1176G>A (p.Thr392=) rs34591580
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865
NM_018051.5(WDR60):c.1791+5A>G rs41271217
NM_018051.5(WDR60):c.1800C>T (p.Ala600=) rs41271220
NM_018051.5(WDR60):c.2371+4C>T rs2286113
NM_018051.5(WDR60):c.2385G>A (p.Leu795=) rs61747095
NM_018051.5(WDR60):c.675C>G (p.Asn225Lys) rs2709859
NM_018668.4(VPS33B):c.-325T>C rs11073967
NM_018668.4(VPS33B):c.1105+9C>T rs3826033
NM_018668.4(VPS33B):c.1540G>A (p.Gly514Ser) rs11073964
NM_018848.3(MKKS):c.-74G>A rs113994194
NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909
NM_018848.3(MKKS):c.117C>T (p.Pro39=) rs16991547
NM_018848.3(MKKS):c.534C>T (p.Ile178=) rs17852625
NM_018849.3(ABCB4):c.101C>T (p.Thr34Met) rs142794414
NM_018849.3(ABCB4):c.175C>T (p.Leu59=) rs2302387
NM_018849.3(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028
NM_018849.3(ABCB4):c.504C>T (p.Asn168=) rs1202283
NM_018979.4(WNK1):c.*1146G>A rs78913352
NM_018979.4(WNK1):c.*1986G>A rs2023944
NM_018979.4(WNK1):c.*2308T>C rs1060499
NM_018979.4(WNK1):c.-203C>G rs72647363
NM_018979.4(WNK1):c.-452G>A rs118007973
NM_018979.4(WNK1):c.-91T>G rs3088353
NM_018979.4(WNK1):c.1287A>G (p.Ala429=) rs10774466
NM_018979.4(WNK1):c.1401-11C>A rs11064573
NM_018979.4(WNK1):c.1479T>C (p.Asp493=) rs2286006
NM_018979.4(WNK1):c.1994C>T (p.Thr665Ile) rs2286007
NM_018979.4(WNK1):c.2328G>A (p.Gln776=) rs1012729
NM_018979.4(WNK1):c.2374-181C>T rs880054
NM_018979.4(WNK1):c.2529G>A (p.Gln843=) rs9804992
NM_018979.4(WNK1):c.258T>C (p.Cys86=) rs3168640
NM_018979.4(WNK1):c.3166A>C (p.Thr1056Pro) rs956868
NM_018979.4(WNK1):c.3489+4C>T rs34032084
NM_018979.4(WNK1):c.3960C>T (p.Asn1320=) rs7300444
NM_018979.4(WNK1):c.4044C>T (p.Thr1348=) rs10849577
NM_018979.4(WNK1):c.421G>A (p.Ala141Thr) rs11554421
NM_018979.4(WNK1):c.4517G>C (p.Cys1506Ser) rs7955371
NM_018979.4(WNK1):c.5397A>G (p.Gln1799=) rs148639270
NM_018979.4(WNK1):c.5424G>T (p.Met1808Ile) rs12828016
NM_018979.4(WNK1):c.5468C>T (p.Pro1823Leu) rs17755373
NM_018979.4(WNK1):c.6828C>T (p.Tyr2276=) rs4766334
NM_018979.4(WNK1):c.759+15A>C rs11064518
NM_018979.4(WNK1):c.759+16_759+18dup rs398088143
NM_019040.5(ELP4):c.*2114C>G rs16922475
NM_019040.5(ELP4):c.*2452C>T rs3026401
NM_019040.5(ELP4):c.*2673_*2674del rs141022497
NM_019040.5(ELP4):c.*3164_*3165insAAAA rs34919147
NM_019040.5(ELP4):c.*3208C>T rs608293
NM_019040.5(ELP4):c.*3514_*3517dup rs397795797
NM_019040.5(ELP4):c.*3703G>A rs3026398
NM_019040.5(ELP4):c.*3998C>T rs662702
NM_019040.5(ELP4):c.*4105C>T rs73477656
NM_019040.5(ELP4):c.*4250C>T rs12421026
NM_019040.5(ELP4):c.*5226T>A rs1506
NM_019040.5(ELP4):c.*5347T>C rs117590302
NM_020041.3(SLC2A9):c.1046C>T (p.Pro349Leu) rs116742917
NM_020041.3(SLC2A9):c.1049C>T (p.Pro350Leu) rs2280205
NM_020041.3(SLC2A9):c.1113+9A>C rs2280204
NM_020041.3(SLC2A9):c.322T>C (p.Leu108=) rs13113918
NM_020041.3(SLC2A9):c.375G>A (p.Thr125=) rs10939650
NM_020041.3(SLC2A9):c.504C>T (p.Ile168=) rs3733589
NM_020041.3(SLC2A9):c.567T>C (p.Leu189=) rs13125646
NM_020041.3(SLC2A9):c.73G>A (p.Gly25Arg) rs2276961
NM_020041.3(SLC2A9):c.841G>C (p.Asp281His) rs73225891
NM_020041.3(SLC2A9):c.844G>A (p.Val282Ile) rs16890979
NM_020041.3(SLC2A9):c.881G>A (p.Arg294His) rs3733591
NM_020117.11(LARS1):c.245A>G (p.Lys82Arg) rs112954500
NM_020630.5(RET):c.-200A>G rs10900296
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153
NM_020779.4(WDR35):c.*231C>A rs1056233
NM_020779.4(WDR35):c.*523G>A rs957614
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) rs6741091
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669
NM_020779.4(WDR35):c.2824-14G>T rs1191779
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) rs34169020
NM_020800.3(IFT80):c.*42G>A rs16831149
NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser) rs6778728
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424
NM_020937.4(FANCM):c.1964A>G (p.Asn655Ser) rs61753893
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala) rs61746895
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu) rs1367580
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser) rs45604036
NM_020937.4(FANCM):c.4516-5_4516-2del rs796584585
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943
NM_020937.4(FANCM):c.524C>T (p.Ser175Phe) rs10138997
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser) rs45557033
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=) rs8018014
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534
NM_020975.6(RET):c.*1506G>A rs2742241
NM_020975.6(RET):c.*1969T>C rs3026785
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208
NM_020975.6(RET):c.1264-5C>T rs9282835
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860
NM_020975.6(RET):c.1529C>T (p.Ala510Val) rs201745826
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958
NM_020975.6(RET):c.1941C>T (p.Ile647=) rs75225191
NM_020975.6(RET):c.2342A>G (p.Gln781Arg) rs377767416
NM_020975.6(RET):c.2393-14C>T rs144269978
NM_020975.6(RET):c.2765C>A (p.Ser922Tyr) rs377767432
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.6(RET):c.3188-9C>T rs551159582
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139
NM_020975.6(RET):c.74-50G>T
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262
NM_020975.6(RET):c.867+48A>G rs2435352
NM_020975.6(RET):c.868-18G>A rs57098408
NM_021150.4(GRIP1):c.*1261del rs35499444
NM_021150.4(GRIP1):c.*616T>C rs1168308
NM_021150.4(GRIP1):c.1682+13G>T rs7397862
NM_021150.4(GRIP1):c.2305C>G (p.Gln769Glu) rs13277
NM_021150.4(GRIP1):c.2308+15T>C rs7970076
NM_021150.4(GRIP1):c.503-15C>A rs11838180
NM_021150.4(GRIP1):c.724+10G>A rs12316942
NM_021828.5(HPSE2):c.1736A>T (p.Tyr579Phe)
NM_021871.3(FGA):c.-58A>G rs2070011
NM_021871.4(FGA):c.16A>G (p.Ile6Val) rs2070025
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) rs6050
NM_021922.2(FANCE):c.*216del rs45584740
NM_021922.2(FANCE):c.1504G>A (p.Ala502Thr) rs9462088
NM_021922.2(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_021957.4(GYS2):c.*152C>T rs936
NM_021957.4(GYS2):c.*6A>T rs10431213
NM_021957.4(GYS2):c.1087A>G (p.Met363Val) rs2306180
NM_021957.4(GYS2):c.1169+12A>T rs4639981
NM_021957.4(GYS2):c.1229+11G>A rs1871137
NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala) rs61733199
NM_021957.4(GYS2):c.1965G>C (p.Gln655His) rs117639846
NM_022455.4(NSD1):c.1792T>C (p.Leu598=) rs28932176
NM_022455.4(NSD1):c.2071G>A (p.Ala691Thr) rs28932177
NM_022455.4(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179
NM_022455.4(NSD1):c.6750G>A (p.Met2250Ile) rs35848863
NM_022455.4(NSD1):c.6782T>C (p.Met2261Thr) rs34165241
NM_022455.4(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455
NM_022489.4(INF2):c.*437G>A rs1128866
NM_022489.4(INF2):c.*536G>T rs1128880
NM_022489.4(INF2):c.-10G>A rs115602636
NM_022489.4(INF2):c.-85G>A rs141884370
NM_022489.4(INF2):c.105C>T (p.Pro35=) rs4983530
NM_022489.4(INF2):c.1227G>T (p.Ser409=) rs3809455
NM_022489.4(INF2):c.2310+8del rs3840006
NM_022489.4(INF2):c.2322C>T (p.Thr774=) rs59751492
NM_022489.4(INF2):c.2571C>T (p.Ser857=) rs62640005
NM_022489.4(INF2):c.2640T>C (p.Asp880=) rs10133301
NM_022489.4(INF2):c.2775+15C>T rs73347508
NM_022489.4(INF2):c.3066T>C (p.Asp1022=) rs4983535
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867
NM_022489.4(INF2):c.3207A>C (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3207A>G (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3286C>T (p.Pro1096Ser) rs34251364
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065
NM_022489.4(INF2):c.391+6C>T rs75115369
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758
NM_022489.4(INF2):c.651G>A (p.Leu217=) rs780516674
NM_022725.3(FANCF):c.*207C>T rs4447177
NM_022725.3(FANCF):c.*632G>A rs444923
NM_022725.3(FANCF):c.*819C>T rs450946
NM_022725.3(FANCF):c.-10C>T rs3740615
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925
NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr) rs199565938
NM_024408.4(NOTCH2):c.137A>G (p.Asn46Ser)
NM_024408.4(NOTCH2):c.3034T>C (p.Leu1012=) rs77194332
NM_024408.4(NOTCH2):c.3234C>T (p.Cys1078=) rs7543643
NM_024408.4(NOTCH2):c.3441G>A (p.Glu1147=) rs371875533
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484
NM_024408.4(NOTCH2):c.4014C>T (p.Ser1338=) rs17024525
NM_024408.4(NOTCH2):c.4305G>A (p.Arg1435=) rs6692009
NM_024408.4(NOTCH2):c.5065A>T (p.Ile1689Phe) rs60854092
NM_024408.4(NOTCH2):c.57C>G (p.Cys19Trp)
NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=) rs3795666
NM_024426.6(WT1):c.*1049del rs568803808
NM_024426.6(WT1):c.*267G>C rs5030317
NM_024426.6(WT1):c.*602A>G rs5030320
NM_024426.6(WT1):c.*978dup rs5030326
NM_024426.6(WT1):c.-106C>T rs867975105
NM_024426.6(WT1):c.1074A>G (p.Gln358=) rs2234590
NM_024426.6(WT1):c.1122A>G (p.Arg374=) rs16754
NM_024426.6(WT1):c.1265-32C>A rs2234593
NM_024426.6(WT1):c.1265-52G>T rs869312745
NM_024426.6(WT1):c.213G>T (p.Pro71=) rs2234582
NM_024426.6(WT1):c.345C>T (p.Pro115=) rs1799925
NM_024426.6(WT1):c.609C>T (p.Asn203=) rs2234583
NM_024529.4(CDC73):c.*3786T>A rs74130943
NM_024649.5(BBS1):c.*7A>G rs8432
NM_024649.5(BBS1):c.*955G>A rs1791686
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806
NM_024649.5(BBS1):c.724-8G>C rs10896125
NM_024675.3(PALB2):c.-47G>A
NM_024675.3(PALB2):c.1676A>G (p.Gln559Arg) rs152451
NM_024675.3(PALB2):c.629C>T (p.Pro210Leu) rs57605939
NM_024685.4(BBS10):c.*1051C>T rs3087711
NM_024685.4(BBS10):c.*769G>C rs73383520
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_024740.2(ALG9):c.1550G>T (p.Arg517Leu)
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204
NM_024740.2(ALG9):c.839C>T (p.Ala280Val)
NM_024740.2(ALG9):c.944A>G (p.Asn315Ser)
NM_024753.4(TTC21B):c.-145G>A rs111867313
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273
NM_024753.5(TTC21B):c.783G>T (p.Gly261=) rs200255917
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429
NM_024809.5(TCTN2):c.*330_*331insACTC rs56918215
NM_024809.5(TCTN2):c.1099+19T>C rs7137946
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867
NM_024809.5(TCTN2):c.1393+7C>T rs7298440
NM_024809.5(TCTN2):c.891+7G>A rs7313032
NM_025074.7(FRAS1):c.*1301G>A rs3210826
NM_025074.7(FRAS1):c.*1814G>A rs17003321
NM_025074.7(FRAS1):c.*1995G>T rs72873318
NM_025074.7(FRAS1):c.*2154C>T rs3811747
NM_025074.7(FRAS1):c.*2489T>C rs11098227
NM_025074.7(FRAS1):c.*2700G>A rs11098228
NM_025074.7(FRAS1):c.*2824_*2825insTTTT rs397724155
NM_025074.7(FRAS1):c.*282A>T rs3749485
NM_025074.7(FRAS1):c.*33T>A rs72659058
NM_025074.7(FRAS1):c.*518dup rs397752464
NM_025074.7(FRAS1):c.-65T>C rs6832285
NM_025074.7(FRAS1):c.10377C>T (p.Thr3459=) rs3749487
NM_025074.7(FRAS1):c.10648+25del rs397994139
NM_025074.7(FRAS1):c.10696G>A (p.Val3566Ile) rs931606
NM_025074.7(FRAS1):c.108+2546T>C rs10008489
NM_025074.7(FRAS1):c.10877T>C (p.Val3626Ala) rs34670941
NM_025074.7(FRAS1):c.11037C>G (p.Pro3679=) rs4975070
NM_025074.7(FRAS1):c.11056C>T (p.Leu3686=) rs4975139
NM_025074.7(FRAS1):c.11445+68_11445+69del
NM_025074.7(FRAS1):c.1396T>A (p.Leu466Ile) rs12504081
NM_025074.7(FRAS1):c.1617A>G (p.Arg539=) rs345528
NM_025074.7(FRAS1):c.1947T>C (p.His649=) rs345514
NM_025074.7(FRAS1):c.2060A>G (p.Asp687Gly) rs345513
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val) rs6835769
NM_025074.7(FRAS1):c.3068G>A (p.Gly1023Glu) rs17459809
NM_025074.7(FRAS1):c.3124G>A (p.Ala1042Thr) rs114077522
NM_025074.7(FRAS1):c.3151+14_3151+15dup rs398092530
NM_025074.7(FRAS1):c.3312T>C (p.Ser1104=) rs35774552
NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys) rs12512164
NM_025074.7(FRAS1):c.5366+13T>G rs2170899
NM_025074.7(FRAS1):c.604-132G>A rs6856362
NM_025074.7(FRAS1):c.604-8G>A rs2867014
NM_025074.7(FRAS1):c.6444C>T (p.Thr2148=) rs17003235
NM_025074.7(FRAS1):c.6468C>T (p.His2156=) rs753752
NM_025074.7(FRAS1):c.7011G>A (p.Ala2337=) rs6851427
NM_025074.7(FRAS1):c.7110C>T (p.His2370=) rs7660664
NM_025074.7(FRAS1):c.7132A>G (p.Lys2378Glu) rs7684722
NM_025074.7(FRAS1):c.7254A>G (p.Lys2418=) rs34840208
NM_025074.7(FRAS1):c.7371+11T>C rs7664505
NM_025074.7(FRAS1):c.8439C>T (p.Asp2813=) rs11098194
NM_025074.7(FRAS1):c.8745C>T (p.Phe2915=) rs41327848
NM_025074.7(FRAS1):c.9116-11T>C rs7677541
NM_025074.7(FRAS1):c.9116-5C>G rs7695038
NM_025074.7(FRAS1):c.95A>G (p.Asp32Gly) rs4859905
NM_025074.7(FRAS1):c.9808A>C (p.Arg3270=) rs3749488
NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.3574-9delT rs10717563
NM_025114.3(CEP290):c.6522+12dupT rs11405846
NM_025114.3(CEP290):c.853-12_853-11insG rs71082425
NM_025132.4(WDR19):c.*229C>T rs7564
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209
NM_025132.4(WDR19):c.891C>T (p.Cys297=) rs2167494
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714
NM_030787.3(CFHR5):c.*802T>G rs10922153
NM_030787.3(CFHR5):c.-20T>C rs9427662
NM_030787.3(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_030943.3(AMN):c.1170-37C>G rs148815688
NM_031850.3(AGTR1):c.*798G>A rs380400
NM_031850.3(AGTR1):c.*86A>C rs5186
NM_031850.3(AGTR1):c.1167A>G (p.Pro389=) rs5183
NM_031850.3(AGTR1):c.678C>T (p.Leu226=) rs5182
NM_031885.3(BBS2):c.-242T>C rs12446354
NM_031885.4(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.4(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_031885.4(BBS2):c.209= (p.Asn70=) rs4784677
NM_031885.4(BBS2):c.367A>G (p.Ile123Val) rs11373
NM_031885.4(BBS2):c.612+12C>A rs77019529
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_032043.2(BRIP1):c.1141-94G>T rs114901675
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) rs45501097
NM_032043.2(BRIP1):c.206-21T>C rs2048717
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) rs111536363
NM_032043.2(BRIP1):c.2257+19A>C rs77851913
NM_032043.2(BRIP1):c.2637A>G (p.Glu879=) rs4986765
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763
NM_032043.2(BRIP1):c.430G>A (p.Ala144Thr) rs116952709
NM_032043.2(BRIP1):c.577G>A (p.Val193Ile) rs4988346
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro) rs4988347
NM_032043.2(BRIP1):c.918+15T>A rs117820198
NM_032387.5(WNK4):c.1477-13A>G rs61754357
NM_032387.5(WNK4):c.1641C>T (p.Ala547=) rs9916754
NM_032387.5(WNK4):c.1801G>T (p.Ala601Ser) rs55781437
NM_032387.5(WNK4):c.239C>A (p.Ala80Asp) rs61754326
NM_032387.5(WNK4):c.2474C>T (p.Pro825Leu) rs56226218
NM_032387.5(WNK4):c.2724G>A (p.Pro908=) rs2290042
NM_032387.5(WNK4):c.2881C>T (p.Pro961Ser) rs2290041
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528
NM_032856.5(WDR73):c.926_943ATGGAACACGGAGCCAAG[1] (p.309_314DGTRSQ[1])
NM_033028.5(BBS4):c.*1G>C rs113678046
NM_033028.5(BBS4):c.-17C>A rs56368716
NM_033028.5(BBS4):c.-6G>A rs367543011
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033028.5(BBS4):c.1451-45T>C rs75847960
NM_033028.5(BBS4):c.17T>C (p.Val6Ala) rs113994185
NM_033028.5(BBS4):c.18C>T (p.Val6=) rs113994187
NM_033028.5(BBS4):c.20C>T (p.Ala7Val) rs113994186
NM_033028.5(BBS4):c.28dup (p.Thr10fs) rs113994184
NM_033028.5(BBS4):c.42A>G (p.Val14=) rs113994181
NM_033028.5(BBS4):c.76+19G>T rs4777527
NM_033028.5(BBS4):c.77-6G>A rs8033604
NM_033028.5(BBS4):c.8A>C (p.Glu3Ala) rs113994183
NM_033028.5(BBS4):c.91A>G (p.Ile31Val) rs113994182
NM_033084.5(FANCD2):c.1122A>G (p.Val374=) rs34046352
NM_033084.5(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_033084.5(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_033084.5(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_033084.5(FANCD2):c.1214A>G (p.Asn405Ser) rs73126218
NM_033084.5(FANCD2):c.1278+3_1278+5del rs375350046
NM_033084.5(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_033084.5(FANCD2):c.1413+14T>C rs12330599
NM_033084.5(FANCD2):c.1413+3A>G rs62245508
NM_033084.5(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017
NM_033084.5(FANCD2):c.2702G>T (p.Gly901Val) rs35495399
NM_033084.5(FANCD2):c.2877A>G (p.Gln959=) rs145953386
NM_033084.5(FANCD2):c.378-6_378-5del rs55973240
NM_033084.6(FANCD2):c.1135-25G>A
NM_033084.6(FANCD2):c.2494+95C>A
NM_033084.6(FANCD2):c.2494+97T>A
NM_033084.6(FANCD2):c.2494+98C>A
NM_033084.6(FANCD2):c.3777+83_3777+86del
NM_033360.4(KRAS):c.483= (p.Arg161=) rs4362222
NM_033380.3(COL4A5):c.1033-15del rs104886089
NM_033380.3(COL4A5):c.2768-11A>G rs1006269
NM_033380.3(COL4A5):c.609+21T>C rs6622333
NM_033629.6(TREX1):c.*37T>C rs3135946
NM_033629.6(TREX1):c.-68T>C rs3135941
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.6(TREX1):c.531= (p.Tyr177=) rs11797
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945
NM_052844.3(WDR34):c.178T>G (p.Trp60Gly) rs4837292
NM_052844.3(WDR34):c.187-3C>A rs12380424
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593
NM_052873.3(IFT43):c.280G>A (p.Asp94Asn) rs17783366
NM_052989.3(IFT122):c.1654-12C>T rs112066509
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636
NM_052989.3(IFT122):c.1993-7G>C rs2285354
NM_052989.3(IFT122):c.740+15G>A rs56379561
NM_057174.2(PEX16):c.*138C>T rs10838529
NM_057174.2(PEX16):c.*434G>A rs2280329
NM_057174.2(PEX16):c.346= (p.Ile116=)
NM_057174.2(PEX16):c.760G>C (p.Val254Leu) rs35214605
NM_057174.2(PEX16):c.873T>C (p.Tyr291=) rs1132349
NM_057176.3(BSND):c.*175C>G rs4339899
NM_057176.3(BSND):c.*24A>C rs6682884
NM_057176.3(BSND):c.-117T>C rs2500340
NM_057176.3(BSND):c.-70C>G rs2500341
NM_057176.3(BSND):c.924G>A (p.Pro308=) rs33938617
NM_058216.3(RAD51C):c.146-8A>G rs201079501
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291
NM_058216.3(RAD51C):c.459T>G (p.Gly153=) rs769486350
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895
NM_080647.1(TBX1):c.297G>A (p.Ala99=) rs72646953
NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) rs41298838
NM_080704.4(TRPV1):c.-34+7395T>C rs161380
NM_138413.4(HOGA1):c.*355C>T rs1977642
NM_138413.4(HOGA1):c.*445A>G rs1812286
NM_138413.4(HOGA1):c.*498G>A rs2018017
NM_138413.4(HOGA1):c.*560T>C rs1977641
NM_138413.4(HOGA1):c.*637G>A rs1977640
NM_138413.4(HOGA1):c.*711G>A rs11189295
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752
NM_138694.4(PKHD1):c.*2564A>G rs1414504
NM_138694.4(PKHD1):c.*3026A>G rs2784199
NM_138694.4(PKHD1):c.*3393C>A rs2784198
NM_138694.4(PKHD1):c.*374T>C rs2784201
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=) rs17667728
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg) rs4715227
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=) rs1896976
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg) rs9381994
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg) rs117122807
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys) rs9370096
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val) rs9296669
NM_138694.4(PKHD1):c.5236+14A>G rs12210725
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val) rs2435322
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295
NM_138694.4(PKHD1):c.7734-4T>C rs7452724
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=) rs9349603
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.8302+12T>A rs1571084
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748
NM_138694.4(PKHD1):c.9237G>A (p.Ala3079=) rs765525
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323
NM_139025.4(ADAMTS13):c.1342C>G (p.Gln448Glu) rs2301612
NM_139025.4(ADAMTS13):c.1368G>T (p.Gln456His) rs36220239
NM_139025.4(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933
NM_139025.4(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446
NM_139025.4(ADAMTS13):c.3287G>A (p.Arg1096His) rs61751476
NM_139025.4(ADAMTS13):c.3541G>A (p.Gly1181Arg) rs192619276
NM_139025.4(ADAMTS13):c.4221C>A (p.Thr1407=) rs1055432
NM_144585.4(SLC22A12):c.*249_*253GCCCT[3] rs61157735
NM_144585.4(SLC22A12):c.*294del rs398048295
NM_144585.4(SLC22A12):c.*517G>A rs476037
NM_144585.4(SLC22A12):c.-220G>A rs3825018
NM_144585.4(SLC22A12):c.1248A>G (p.Ala416=) rs1630320
NM_144585.4(SLC22A12):c.1309T>C (p.Leu437=) rs7932775
NM_144585.4(SLC22A12):c.246C>T (p.Asn82=) rs3825017
NM_144585.4(SLC22A12):c.258C>T (p.His86=) rs3825016
NM_144585.4(SLC22A12):c.426T>C (p.His142=) rs11231825
NM_144696.6(AXDND1):c.3032-3141G>A rs1410592
NM_144696.6(AXDND1):c.3032-3225T>C rs3818587
NM_144696.6(AXDND1):c.3032-3496C>T rs1410590
NM_144696.6(AXDND1):c.3032-3539C>T rs2274623
NM_144696.6(AXDND1):c.3032-3597T>C rs2274622
NM_144696.6(AXDND1):c.3032-3767T>C rs1060775
NM_144997.6(FLCN):c.-487G>C rs1736209
NM_144997.7(FLCN):c.*1182dup rs199535675
NM_144997.7(FLCN):c.*1336G>T rs7218992
NM_144997.7(FLCN):c.*1403T>C rs7218795
NM_144997.7(FLCN):c.*356G>T rs7224474
NM_144997.7(FLCN):c.*393G>A rs12602675
NM_144997.7(FLCN):c.*425G>A rs7224335
NM_144997.7(FLCN):c.*557T>C rs3803761
NM_144997.7(FLCN):c.*914C>T rs7223831
NM_144997.7(FLCN):c.*956A>G rs141650706
NM_144997.7(FLCN):c.-134C>T rs116581458
NM_144997.7(FLCN):c.-299C>T rs1708629
NM_144997.7(FLCN):c.-302G>A rs41345949
NM_144997.7(FLCN):c.-78G>C rs147598893
NM_144997.7(FLCN):c.-90A>G rs8069957
NM_144997.7(FLCN):c.-93C>T rs115413827
NM_144997.7(FLCN):c.-97C>T rs114481741
NM_144997.7(FLCN):c.1062+6C>T rs8065832
NM_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032
NM_144997.7(FLCN):c.1433-38A>G rs34235236
NM_144997.7(FLCN):c.397-13G>A rs3744123
NM_144997.7(FLCN):c.397-14C>T rs1736219
NM_144997.7(FLCN):c.726A>T (p.Thr242=) rs113938514
NM_144997.7(FLCN):c.872-13A>G rs114970273
NM_147127.5(EVC2):c.*384T>A rs2287576
NM_147127.5(EVC2):c.-15G>A rs76269601
NM_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655
NM_147127.5(EVC2):c.1711-20_1711-19dup rs35103377
NM_147127.5(EVC2):c.2046+5A>G rs6850875
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039
NM_147127.5(EVC2):c.3557+10G>A rs116218656
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278
NM_152383.4(DIS3L2):c.1170C>T (p.Leu390=) rs17272089
NM_152383.4(DIS3L2):c.1448G>A (p.Arg483Gln) rs148474013
NM_152383.4(DIS3L2):c.1488T>C (p.His496=) rs72998118
NM_152383.4(DIS3L2):c.2187C>T (p.Pro729=) rs75782436
NM_152383.4(DIS3L2):c.2646A>G (p.Ser882=) rs3811578
NM_152383.4(DIS3L2):c.34C>T (p.Pro12Ser) rs723044
NM_152383.4(DIS3L2):c.426C>T (p.Pro142=) rs73001172
NM_152618.3(BBS12):c.*248G>A rs4833843
NM_152618.3(BBS12):c.*811C>G rs309386
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152618.3(BBS12):c.1200G>A (p.Val400=) rs309371
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479
NM_152618.3(BBS12):c.1398C>T (p.Gly466=) rs2292493
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082
NM_153223.3(CEP120):c.1671G>A (p.Leu557=) rs75289011
NM_153240.4(NPHP3):c.-69A>G rs13099099
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496
NM_153240.5(NPHP3):c.394-89AT[7]
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802
NM_153717.3(EVC):c.*1060A>C rs71599848
NM_153717.3(EVC):c.*1083T>G rs71599850
NM_153717.3(EVC):c.*1218C>T rs12501119
NM_153717.3(EVC):c.*1318G>C rs67547790
NM_153717.3(EVC):c.*1375A>G rs114994758
NM_153717.3(EVC):c.*14G>A rs2291151
NM_153717.3(EVC):c.*1845del rs397690241
NM_153717.3(EVC):c.*1849C>G rs75438311
NM_153717.3(EVC):c.*2009T>C rs79152885
NM_153717.3(EVC):c.*210C>A rs16837692
NM_153717.3(EVC):c.*2268G>A rs4261923
NM_153717.3(EVC):c.*2417T>C rs6848370
NM_153717.3(EVC):c.*2617G>A rs3733186
NM_153717.3(EVC):c.*2680G>A rs3733187
NM_153717.3(EVC):c.*2713C>T rs3733188
NM_153717.3(EVC):c.*2871C>T rs3733189
NM_153717.3(EVC):c.*3165T>C rs3755847
NM_153717.3(EVC):c.*53T>C rs7676531
NM_153717.3(EVC):c.*748T>C rs62297707
NM_153717.3(EVC):c.*820C>T rs137860758
NM_153717.3(EVC):c.*908G>A rs13119698
NM_153717.3(EVC):c.*931T>C rs6840435
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252
NM_153717.3(EVC):c.2305-8T>C rs1031919
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624
NM_153717.3(EVC):c.802-15C>T rs4689313
NM_153717.3(EVC):c.939+10A>G rs2286342
NM_153717.3(EVC):c.939+11G>T rs55955937
NM_153717.3(EVC):c.939+4C>T rs2286343
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963
NM_153818.1(PEX10):c.*173G>A rs1129171
NM_153818.1(PEX10):c.291A>G (p.Thr97=) rs2494598
NM_153818.1(PEX10):c.880A>G (p.Thr294Ala) rs34154371
NM_170784.2(MKKS):c.-683_-674dup rs16996729
NM_172250.3(MMAA):c.1089G>C (p.Gln363His) rs2270655
NM_172250.3(MMAA):c.747G>A (p.Ser249=) rs11721553
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088
NM_173472.2(FANCD2OS):c.43+4698G>A rs11716842
NM_173472.2(FANCD2OS):c.43+4710C>T rs9862958
NM_173472.2(FANCD2OS):c.43+4817A>C rs3826
NM_173472.2(FANCD2OS):c.43+5186T>C rs7647987
NM_173472.2(FANCD2OS):c.43+5211C>T rs7626117
NM_173472.2(FANCD2OS):c.43+7813A>C rs2272125
NM_173472.2(FANCD2OS):c.44-10734T>C rs9811771
NM_175875.5(SIX5):c.2077G>A (p.Val693Met) rs2341097
NM_176824.3(BBS7):c.*419T>A rs3762840
NM_176824.3(BBS7):c.*690T>C rs3217753
NM_176824.3(BBS7):c.*729del rs3217754
NM_176824.3(BBS7):c.-133C>G rs2271176
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913
NM_176824.3(BBS7):c.1512-7A>T rs115987385
NM_176824.3(BBS7):c.186C>T (p.Pro62=) rs35194418
NM_176824.3(BBS7):c.1890+16G>A rs1507994
NM_176824.3(BBS7):c.1891-12C>A rs2706793
NM_178170.3(NEK8):c.*388C>T rs1142899
NM_178170.3(NEK8):c.1170T>C (p.Gly390=) rs3809797
NM_198309.3(TTC8):c.*238G>A rs1048190
NM_198407.2(GHSR):c.*1109G>T rs562416
NM_198407.2(GHSR):c.*114A>G rs477251
NM_198407.2(GHSR):c.*122C>T rs482204
NM_198407.2(GHSR):c.*1880delA rs5854471
NM_198407.2(GHSR):c.*561_*568del rs146582211
NM_198407.2(GHSR):c.*834C>A rs565105
NM_198407.2(GHSR):c.171C>T (p.Gly57=) rs495225
NM_198407.2(GHSR):c.477G>A (p.Arg159=) rs572169
NM_198428.3(BBS9):c.*103T>C rs1050719
NM_198428.3(BBS9):c.*110C>T rs1050721
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067
NM_198428.3(BBS9):c.1329+1606C>T
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694
NM_198428.3(BBS9):c.2299-20A>C rs17727583
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751
NM_198428.3(BBS9):c.2632+9C>A rs148654647
NM_207361.6(FREM2):c.*1428A>G rs9548522
NM_207361.6(FREM2):c.*2140C>G rs7324632
NM_207361.6(FREM2):c.*2926G>A rs1945508
NM_207361.6(FREM2):c.*3192T>C rs7337135
NM_207361.6(FREM2):c.*342G>A rs9603463
NM_207361.6(FREM2):c.*3481G>A rs2184141
NM_207361.6(FREM2):c.*4465C>T rs2027770
NM_207361.6(FREM2):c.*4560G>A rs2225623
NM_207361.6(FREM2):c.*4770C>T rs6563648
NM_207361.6(FREM2):c.*5335A>G rs9548524
NM_207361.6(FREM2):c.*5491G>A rs2226913
NM_207361.6(FREM2):c.*5542T>A rs7327529
NM_207361.6(FREM2):c.*5562C>G rs1945507
NM_207361.6(FREM2):c.*5598T>G rs1945506
NM_207361.6(FREM2):c.*5627del rs5802961
NM_207361.6(FREM2):c.*5733C>T rs1945505
NM_207361.6(FREM2):c.*5899C>T rs1945504
NM_207361.6(FREM2):c.*992T>C rs9532297
NM_207361.6(FREM2):c.1542C>T (p.Ala514=) rs12874397
NM_207361.6(FREM2):c.2233= (p.Pro745=) rs2496423
NM_207361.6(FREM2):c.2250C>T (p.Asp750=) rs41292755
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425
NM_207361.6(FREM2):c.576G>A (p.Glu192=) rs1868464
NM_207361.6(FREM2):c.6196C>T (p.Arg2066Cys) rs9548505
NM_207361.6(FREM2):c.6458C>G (p.Thr2153Ser) rs9548506
NM_207361.6(FREM2):c.6459T>C (p.Thr2153=) rs9548507
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile) rs9548509
NM_207361.6(FREM2):c.7398A>G (p.Thr2466=) rs9532292
NM_207361.6(FREM2):c.7984-10G>A rs9532295
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212
NM_212472.2(PRKAR1A):c.*1212T>G rs8905
NM_212472.2(PRKAR1A):c.*1244T>C rs9925
NM_212472.2(PRKAR1A):c.*1777C>T rs7977
NM_212472.2(PRKAR1A):c.*2188C>G rs6958
NM_212472.2(PRKAR1A):c.*587dup rs398041821
NM_212472.2(PRKAR1A):c.*870G>A rs8082254
NM_212472.2(PRKAR1A):c.349-5dup rs3841514
NM_212472.2(PRKAR1A):c.87G>A (p.Ala29=) rs3730349
NR_037941.1(STX16):n.11T>C rs6026428
OFD1:c.653-6A>G
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.