NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
NM_001256071.3(RNF213):c.13195G>A (p.Ala4399Thr)
|
rs148731719
|
0.00799
|
NM_001256071.3(RNF213):c.5114C>A (p.Thr1705Lys)
|
rs147868237
|
0.00389
|
NM_001845.6(COL4A1):c.911C>T (p.Pro304Leu)
|
rs34843786
|
0.00357
|
NM_020893.6(CCDC180):c.2935C>T (p.Arg979Trp)
|
rs183800704
|
0.00319
|
NM_001256071.3(RNF213):c.3404C>T (p.Ala1135Val)
|
rs201493500
|
0.00317
|
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys)
|
rs1801696
|
0.00305
|
NM_003176.4(SYCP1):c.260A>G (p.Tyr87Cys)
|
rs146221635
|
0.00273
|
NM_001733.7(C1R):c.336G>C (p.Met112Ile)
|
rs139531404
|
0.00271
|
NM_052905.4(FMNL2):c.3231T>G (p.Phe1077Leu)
|
rs182064759
|
0.00228
|
NM_001845.6(COL4A1):c.-103G>A
|
rs538721412
|
0.00227
|
NM_001256071.3(RNF213):c.352T>C (p.Cys118Arg)
|
rs201620985
|
0.00187
|
NM_001256071.3(RNF213):c.5530G>A (p.Ala1844Thr)
|
rs545060242
|
0.00160
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_001845.6(COL4A1):c.1000-5T>G
|
rs75711155
|
0.00155
|
NM_000484.4(APP):c.1795G>A (p.Glu599Lys)
|
rs140304729
|
0.00143
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
NM_002486.5(NCBP1):c.373G>A (p.Val125Met)
|
rs143745791
|
0.00132
|
NM_001256071.3(RNF213):c.5162C>T (p.Pro1721Leu)
|
rs189765261
|
0.00109
|
NM_001256071.3(RNF213):c.397C>A (p.Leu133Met)
|
rs149177904
|
0.00099
|
NM_001256071.3(RNF213):c.626T>A (p.Ile209Asn)
|
rs144769597
|
0.00099
|
NM_001846.4(COL4A2):c.-87G>A
|
rs895274784
|
0.00072
|
NM_001256071.3(RNF213):c.12055C>T (p.Arg4019Cys)
|
rs139265462
|
0.00061
|
NM_001613.4(ACTA2):c.*28A>T
|
rs143005546
|
0.00054
|
NM_000484.3(APP):c.-199G>A
|
rs761755102
|
0.00051
|
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr)
|
rs751749989
|
0.00048
|
NM_001846.4(COL4A2):c.1412G>A (p.Arg471His)
|
rs372173405
|
0.00042
|
NM_001845.6(COL4A1):c.401C>T (p.Pro134Leu)
|
rs140517831
|
0.00037
|
NM_000501.4(ELN):c.1358-199G>A
|
rs781963901
|
0.00034
|
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser)
|
rs145172612
|
0.00031
|
NM_001845.6(COL4A1):c.2007C>T (p.Pro669=)
|
rs145645897
|
0.00025
|
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu)
|
rs150129180
|
0.00025
|
NM_001845.6(COL4A1):c.3742+14G>A
|
rs377503687
|
0.00025
|
NM_001845.6(COL4A1):c.553-8C>T
|
rs199534388
|
0.00022
|
NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg)
|
rs375318302
|
0.00021
|
NM_005957.5(MTHFR):c.938G>C (p.Gly313Ala)
|
rs200890679
|
0.00021
|
NM_001846.4(COL4A2):c.*366A>T
|
rs886720876
|
0.00020
|
NM_000043.6(FAS):c.-10C>A
|
rs200181814
|
0.00019
|
NM_001845.6(COL4A1):c.*137G>A
|
rs886049956
|
0.00019
|
NM_031443.4(CCM2):c.328G>A (p.Asp110Asn)
|
rs41280666
|
0.00019
|
NM_001256071.3(RNF213):c.15487G>A (p.Val5163Ile)
|
rs201733659
|
0.00018
|
NM_001256071.3(RNF213):c.4865C>T (p.Ala1622Val)
|
rs534665632
|
0.00018
|
NM_001846.4(COL4A2):c.*796T>C
|
rs958768469
|
0.00017
|
NM_001256071.3(RNF213):c.14195A>C (p.Lys4732Thr)
|
rs148776624
|
0.00016
|
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)
|
rs201058867
|
0.00016
|
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr)
|
rs569940067
|
0.00015
|
NM_001845.6(COL4A1):c.*477G>T
|
rs886049955
|
0.00014
|
NM_001845.6(COL4A1):c.*995C>T
|
rs769502575
|
0.00014
|
NM_001845.6(COL4A1):c.1454C>T (p.Pro485Leu)
|
rs142177702
|
0.00014
|
NM_033118.4(MYLK2):c.134C>T (p.Pro45Leu)
|
rs768640764
|
0.00014
|
NM_001846.4(COL4A2):c.3455-14G>A
|
rs369510198
|
0.00013
|
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys)
|
rs370504038
|
0.00012
|
NM_001845.6(COL4A1):c.-71C>G
|
rs867117624
|
0.00011
|
NM_001846.4(COL4A2):c.1978+4T>C
|
rs372577230
|
0.00011
|
NM_001846.4(COL4A2):c.*493C>G
|
rs770230018
|
0.00010
|
NM_002775.5(HTRA1):c.961G>A (p.Ala321Thr)
|
rs587776449
|
0.00010
|
NM_001130682.3(GUCY1A1):c.1687G>A (p.Val563Ile)
|
rs746640449
|
0.00009
|
NM_001845.6(COL4A1):c.*265A>G
|
rs555157539
|
0.00009
|
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln)
|
rs146288748
|
0.00009
|
NM_005219.5(DIAPH1):c.1093T>C (p.Phe365Leu)
|
rs750318437
|
0.00009
|
NM_022168.4(IFIH1):c.527A>G (p.Asn176Ser)
|
rs374205118
|
0.00009
|
NM_001130682.3(GUCY1A1):c.630C>T (p.Thr210=)
|
rs138687424
|
0.00008
|
NM_001171.6(ABCC6):c.2059G>A (p.Val687Met)
|
rs368806440
|
0.00008
|
NM_001845.6(COL4A1):c.502G>A (p.Gly168Arg)
|
rs144171664
|
0.00008
|
NM_001846.4(COL4A2):c.2200C>T (p.Pro734Ser)
|
rs761169216
|
0.00008
|
NM_001846.4(COL4A2):c.4403-10C>T
|
rs974483781
|
0.00008
|
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln)
|
rs376607450
|
0.00007
|
NM_001846.4(COL4A2):c.-117C>T
|
rs996191480
|
0.00007
|
NM_000447.3(PSEN2):c.53C>T (p.Thr18Met)
|
rs143061887
|
0.00006
|
NM_000484.4(APP):c.704C>T (p.Ala235Val)
|
rs139819006
|
0.00006
|
NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln)
|
rs376673751
|
0.00006
|
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)
|
rs78347903
|
0.00006
|
NM_000484.4(APP):c.47G>A (p.Arg16Gln)
|
rs955517095
|
0.00005
|
NM_001845.6(COL4A1):c.*433T>G
|
rs1051748243
|
0.00005
|
NM_001845.6(COL4A1):c.234+9G>A
|
rs374115295
|
0.00005
|
NM_001846.4(COL4A2):c.2025G>A (p.Glu675=)
|
rs374972536
|
0.00005
|
NM_001846.4(COL4A2):c.2477C>G (p.Pro826Arg)
|
rs1020176452
|
0.00005
|
NM_006172.4(NPPA):c.377G>A (p.Arg126Gln)
|
rs1803268
|
0.00005
|
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)
|
rs144163298
|
0.00004
|
NM_001256071.3(RNF213):c.11765G>A (p.Arg3922Gln)
|
rs766292366
|
0.00004
|
NM_001256071.3(RNF213):c.13918G>A (p.Gly4640Ser)
|
rs138223459
|
0.00004
|
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)
|
rs112735431
|
0.00004
|
NM_001845.6(COL4A1):c.1366G>A (p.Glu456Lys)
|
rs570739274
|
0.00004
|
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe)
|
rs757163211
|
0.00004
|
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His)
|
rs754034347
|
0.00004
|
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn)
|
rs141395813
|
0.00004
|
NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=)
|
rs372556002
|
0.00004
|
NM_001845.6(COL4A1):c.441C>T (p.Pro147=)
|
rs201812821
|
0.00004
|
NM_001845.6(COL4A1):c.858+4A>T
|
rs916106593
|
0.00004
|
NM_001846.4(COL4A2):c.*254C>T
|
rs978536033
|
0.00004
|
NM_001846.4(COL4A2):c.-241C>T
|
rs1444820598
|
0.00004
|
NM_001846.4(COL4A2):c.1078+12A>G
|
rs1473673298
|
0.00004
|
NM_001846.4(COL4A2):c.1676G>A (p.Arg559Gln)
|
rs199574157
|
0.00004
|
NM_001846.4(COL4A2):c.2044A>G (p.Ile682Val)
|
rs761867026
|
0.00004
|
NM_001846.4(COL4A2):c.2581C>T (p.Arg861Cys)
|
rs751658527
|
0.00004
|
NM_001846.4(COL4A2):c.3502C>T (p.Arg1168Trp)
|
rs375813265
|
0.00004
|
NM_001846.4(COL4A2):c.4881+11T>C
|
rs370209795
|
0.00004
|
NM_022168.4(IFIH1):c.1873C>A (p.His625Asn)
|
rs749942019
|
0.00004
|
NM_000435.3(NOTCH3):c.5554G>A (p.Ala1852Thr)
|
rs971318341
|
0.00003
|
NM_000548.5(TSC2):c.4432G>A (p.Asp1478Asn)
|
rs45517343
|
0.00003
|
NM_001127222.2(CACNA1A):c.1348T>C (p.Ser450Pro)
|
rs1308599413
|
0.00003
|
NM_001256071.3(RNF213):c.10063G>A (p.Glu3355Lys)
|
rs753076389
|
0.00003
|
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn)
|
rs777832794
|
0.00003
|
NM_001845.6(COL4A1):c.*1099G>A
|
rs193065628
|
0.00003
|
NM_001845.6(COL4A1):c.*530A>G
|
rs967749737
|
0.00003
|
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)
|
rs200786329
|
0.00003
|
NM_001845.6(COL4A1):c.1365C>T (p.Gly455=)
|
rs576636085
|
0.00003
|
NM_001845.6(COL4A1):c.1885C>G (p.Pro629Ala)
|
rs769408707
|
0.00003
|
NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu)
|
rs778390847
|
0.00003
|
NM_001845.6(COL4A1):c.3144G>T (p.Glu1048Asp)
|
rs368949397
|
0.00003
|
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg)
|
rs769021800
|
0.00003
|
NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=)
|
rs540983592
|
0.00003
|
NM_001845.6(COL4A1):c.430G>A (p.Ala144Thr)
|
rs778175625
|
0.00003
|
NM_001846.4(COL4A2):c.*563A>G
|
rs886049983
|
0.00003
|
NM_001846.4(COL4A2):c.2343C>T (p.Pro781=)
|
rs767050469
|
0.00003
|
NM_001846.4(COL4A2):c.2444G>C (p.Gly815Ala)
|
rs780116763
|
0.00003
|
NM_001846.4(COL4A2):c.4623C>G (p.Phe1541Leu)
|
rs201158095
|
0.00003
|
NM_001846.4(COL4A2):c.4981G>A (p.Gly1661Ser)
|
rs373806617
|
0.00003
|
NM_001846.4(COL4A2):c.862-5C>T
|
rs555514799
|
0.00003
|
NM_006031.6(PCNT):c.2179C>G (p.His727Asp)
|
rs767864228
|
0.00003
|
NM_000484.4(APP):c.674T>C (p.Val225Ala)
|
rs746313873
|
0.00002
|
NM_001256071.3(RNF213):c.1015C>T (p.Leu339Phe)
|
rs906213655
|
0.00002
|
NM_001256071.3(RNF213):c.11537G>A (p.Arg3846His)
|
rs1321156693
|
0.00002
|
NM_001256071.3(RNF213):c.12124G>A (p.Glu4042Lys)
|
rs1241745586
|
0.00002
|
NM_001256071.3(RNF213):c.12711C>G (p.Asp4237Glu)
|
rs773785078
|
0.00002
|
NM_001257180.2(SLC20A2):c.1858C>T (p.Arg620Trp)
|
rs1001310092
|
0.00002
|
NM_001613.4(ACTA2):c.129+5G>A
|
rs373402293
|
0.00002
|
NM_001613.4(ACTA2):c.369+7A>G
|
rs760471677
|
0.00002
|
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=)
|
rs531373470
|
0.00002
|
NM_001845.6(COL4A1):c.1453C>G (p.Pro485Ala)
|
rs747214508
|
0.00002
|
NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn)
|
rs773778552
|
0.00002
|
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg)
|
rs752009614
|
0.00002
|
NM_001845.6(COL4A1):c.1847A>G (p.Asp616Gly)
|
rs756221734
|
0.00002
|
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys)
|
rs751220553
|
0.00002
|
NM_001845.6(COL4A1):c.2262C>T (p.Pro754=)
|
rs750538499
|
0.00002
|
NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser)
|
rs373131870
|
0.00002
|
NM_001845.6(COL4A1):c.957+6C>T
|
rs754165294
|
0.00002
|
NM_001846.4(COL4A2):c.*390G>A
|
rs1281110806
|
0.00002
|
NM_001846.4(COL4A2):c.1108G>C (p.Ala370Pro)
|
rs909040713
|
0.00002
|
NM_001846.4(COL4A2):c.1113A>G (p.Gln371=)
|
rs781075845
|
0.00002
|
NM_001846.4(COL4A2):c.360+1G>A
|
rs759305120
|
0.00002
|
NM_001846.4(COL4A2):c.461G>A (p.Gly154Glu)
|
rs375700657
|
0.00002
|
NM_001846.4(COL4A2):c.914G>T (p.Gly305Val)
|
rs377088851
|
0.00002
|
NM_002474.3(MYH11):c.2062G>A (p.Gly688Ser)
|
rs760793367
|
0.00002
|
NM_006767.4(LZTR1):c.2368C>T (p.Arg790Trp)
|
rs767637944
|
0.00002
|
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)
|
rs782449839
|
0.00001
|
NM_000214.3(JAG1):c.3017C>T (p.Pro1006Leu)
|
rs747142039
|
0.00001
|
NM_000484.4(APP):c.1409G>A (p.Arg470His)
|
rs182162117
|
0.00001
|
NM_000484.4(APP):c.1450C>T (p.Pro484Ser)
|
rs768238394
|
0.00001
|
NM_001110556.2(FLNA):c.5255T>C (p.Leu1752Pro)
|
rs1363194253
|
0.00001
|
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser)
|
rs782095418
|
0.00001
|
NM_001256071.3(RNF213):c.12098C>T (p.Pro4033Leu)
|
rs778482758
|
0.00001
|
NM_001256071.3(RNF213):c.12226A>G (p.Ile4076Val)
|
rs746280089
|
0.00001
|
NM_001256071.3(RNF213):c.14729T>C (p.Val4910Ala)
|
rs1253832723
|
0.00001
|
NM_001256071.3(RNF213):c.1837G>T (p.Asp613Tyr)
|
rs1383472329
|
0.00001
|
NM_001613.4(ACTA2):c.296C>G (p.Ala99Gly)
|
rs779757924
|
0.00001
|
NM_001613.4(ACTA2):c.553C>T (p.Arg185Ter)
|
rs772473154
|
0.00001
|
NM_001613.4(ACTA2):c.689C>G (p.Ala230Gly)
|
rs757461793
|
0.00001
|
NM_001733.7(C1R):c.674G>A (p.Arg225Gln)
|
rs769328977
|
0.00001
|
NM_001845.6(COL4A1):c.*1039A>G
|
rs776016334
|
0.00001
|
NM_001845.6(COL4A1):c.*6C>G
|
rs762512053
|
0.00001
|
NM_001845.6(COL4A1):c.-101G>T
|
rs1884771928
|
0.00001
|
NM_001845.6(COL4A1):c.-20G>T
|
rs886049965
|
0.00001
|
NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu)
|
rs755483519
|
0.00001
|
NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg)
|
rs750386918
|
0.00001
|
NM_001845.6(COL4A1):c.1470C>T (p.Phe490=)
|
rs749215704
|
0.00001
|
NM_001845.6(COL4A1):c.1672G>A (p.Ala558Thr)
|
rs1878441079
|
0.00001
|
NM_001845.6(COL4A1):c.1752G>A (p.Glu584=)
|
rs765423555
|
0.00001
|
NM_001845.6(COL4A1):c.1837C>G (p.Pro613Ala)
|
rs1432737813
|
0.00001
|
NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser)
|
rs760462654
|
0.00001
|
NM_001845.6(COL4A1):c.2095+7C>G
|
rs886049961
|
0.00001
|
NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg)
|
rs527530568
|
0.00001
|
NM_001845.6(COL4A1):c.2314A>T (p.Ile772Phe)
|
rs755499333
|
0.00001
|
NM_001845.6(COL4A1):c.2344+11G>A
|
rs886049960
|
0.00001
|
NM_001845.6(COL4A1):c.2344+12C>A
|
rs373696600
|
0.00001
|
NM_001845.6(COL4A1):c.2492C>T (p.Pro831Leu)
|
rs1351737168
|
0.00001
|
NM_001845.6(COL4A1):c.2659C>T (p.Pro887Ser)
|
rs1055161168
|
0.00001
|
NM_001845.6(COL4A1):c.2706G>A (p.Pro902=)
|
rs754208625
|
0.00001
|
NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu)
|
rs778143775
|
0.00001
|
NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu)
|
rs758076661
|
0.00001
|
NM_001845.6(COL4A1):c.3188G>A (p.Arg1063Gln)
|
rs755532903
|
0.00001
|
NM_001845.6(COL4A1):c.3223C>T (p.Pro1075Ser)
|
rs780691085
|
0.00001
|
NM_001845.6(COL4A1):c.3274A>G (p.Met1092Val)
|
rs757670001
|
0.00001
|
NM_001845.6(COL4A1):c.3329G>T (p.Ser1110Ile)
|
rs774198019
|
0.00001
|
NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser)
|
rs757453900
|
0.00001
|
NM_001845.6(COL4A1):c.409C>T (p.Pro137Ser)
|
rs148290885
|
0.00001
|
NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala)
|
rs1357289362
|
0.00001
|
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu)
|
rs760889798
|
0.00001
|
NM_001845.6(COL4A1):c.4462+3A>G
|
rs201116557
|
0.00001
|
NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His)
|
rs747250117
|
0.00001
|
NM_001845.6(COL4A1):c.4967G>A (p.Arg1656His)
|
rs756403856
|
0.00001
|
NM_001845.6(COL4A1):c.900T>A (p.Ser300Arg)
|
rs370338256
|
0.00001
|
NM_001846.4(COL4A2):c.1597-1G>A
|
rs745376502
|
0.00001
|
NM_001846.4(COL4A2):c.1738G>A (p.Asp580Asn)
|
rs766981913
|
0.00001
|
NM_001846.4(COL4A2):c.1868T>A (p.Leu623Gln)
|
rs886049975
|
0.00001
|
NM_001846.4(COL4A2):c.2414C>T (p.Pro805Leu)
|
rs1376206514
|
0.00001
|
NM_001846.4(COL4A2):c.2502G>A (p.Leu834=)
|
rs1034589988
|
0.00001
|
NM_001846.4(COL4A2):c.2995A>G (p.Met999Val)
|
rs1317550156
|
0.00001
|
NM_001846.4(COL4A2):c.313G>A (p.Val105Met)
|
rs772439696
|
0.00001
|
NM_001846.4(COL4A2):c.3179C>T (p.Thr1060Met)
|
rs372727377
|
0.00001
|
NM_001846.4(COL4A2):c.3205C>T (p.Arg1069Trp)
|
rs200165414
|
0.00001
|
NM_001846.4(COL4A2):c.3286A>G (p.Thr1096Ala)
|
rs886049978
|
0.00001
|
NM_001846.4(COL4A2):c.382C>T (p.Pro128Ser)
|
rs975120661
|
0.00001
|
NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg)
|
rs757047420
|
0.00001
|
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg)
|
rs797044947
|
0.00001
|
NM_001846.4(COL4A2):c.4208C>A (p.Thr1403Lys)
|
rs560510434
|
0.00001
|
NM_001846.4(COL4A2):c.4291C>T (p.Arg1431Cys)
|
rs139124960
|
0.00001
|
NM_001846.4(COL4A2):c.450C>T (p.Pro150=)
|
rs775266949
|
0.00001
|
NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln)
|
rs748967769
|
0.00001
|
NM_001846.4(COL4A2):c.4892C>T (p.Ala1631Val)
|
rs201495557
|
0.00001
|
NM_001846.4(COL4A2):c.4906G>A (p.Gly1636Ser)
|
rs753412782
|
0.00001
|
NM_001846.4(COL4A2):c.827G>A (p.Gly276Asp)
|
rs372917662
|
0.00001
|
NM_005633.4(SOS1):c.1627T>C (p.Ser543Pro)
|
rs981234810
|
0.00001
|
NM_005633.4(SOS1):c.281T>C (p.Ile94Thr)
|
rs397517161
|
0.00001
|
NM_013444.4(UBQLN2):c.304A>G (p.Ile102Val)
|
rs771147923
|
0.00001
|
NM_014043.4(CHMP2B):c.157G>C (p.Gly53Arg)
|
rs755409238
|
0.00001
|
NM_015039.4(NMNAT2):c.427G>A (p.Val143Met)
|
rs199765030
|
0.00001
|
NM_015268.4(DNAJC13):c.1036C>G (p.Leu346Val)
|
rs746620483
|
0.00001
|
NM_017668.3(NDE1):c.948-39G>A
|
rs571613839
|
0.00001
|
NM_024656.4(COLGALT1):c.1411C>T (p.Arg471Trp)
|
rs1226022092
|
0.00001
|
NM_194454.3(KRIT1):c.1565T>C (p.Ile522Thr)
|
rs758188972
|
0.00001
|
NC_000017.11:g.80392616_80422726del
|
|
|
NM_000093.5(COL5A1):c.4051G>A (p.Gly1351Arg)
|
|
|
NM_000099.4(CST3):c.212G>A (p.Arg71His)
|
|
|
NM_000099.4(CST3):c.340C>T (p.Gln114Ter)
|
rs1600363764
|
|
NM_000311.5(PRNP):c.713C>T (p.Pro238Leu)
|
rs1489076172
|
|
NM_000345.4(SNCA):c.370G>T (p.Ala124Ser)
|
rs1358566725
|
|
NM_000435.3(NOTCH3):c.2093C>G (p.Pro698Arg)
|
|
|
NM_000460.4(THPO):c.-146G>A
|
|
|
NM_000484.3(APP):c.-170C>A
|
rs538664273
|
|
NM_000484.4(APP):c.1037C>A (p.Ser346Tyr)
|
rs1260561215
|
|
NM_000488.4(SERPINC1):c.1388T>C (p.Val463Ala)
|
|
|
NM_000488.4(SERPINC1):c.427A>G (p.Ile143Val)
|
|
|
NM_001001548.3(CD36):c.443T>A (p.Ile148Asn)
|
|
|
NM_001001662.3(ZNF782):c.962G>A (p.Arg321His)
|
rs146058964
|
|
NM_001069.3(TUBB2A):c.1309G>A (p.Glu437Lys)
|
rs369148878
|
|
NM_001110556.2(FLNA):c.4525G>A (p.Val1509Ile)
|
rs782018054
|
|
NM_001114753.3(ENG):c.1928G>A (p.Ser643Asn)
|
|
|
NM_001130682.3(GUCY1A1):c.1535G>A (p.Arg512His)
|
rs369215353
|
|
NM_001134232.2(TMEM106B):c.115G>C (p.Asp39His)
|
rs770339502
|
|
NM_001134407.3(GRIN2A):c.937A>G (p.Ile313Val)
|
rs1465063447
|
|
NM_001141945.3(ACTA2):c.-23-3869A>G
|
rs886047455
|
|
NM_001141945.3(ACTA2):c.-24+236C>T
|
rs886047457
|
|
NM_001141945.3(ACTA2):c.-24+399C>T
|
rs886047456
|
|
NM_001171.6(ABCC6):c.1068G>A (p.Met356Ile)
|
|
|
NM_001252102.2(KIF21B):c.433G>C (p.Ala145Pro)
|
rs368704611
|
|
NM_001256071.3(RNF213):c.11659A>G (p.Lys3887Glu)
|
rs1555673862
|
|
NM_001256071.3(RNF213):c.11779G>A (p.Ala3927Thr)
|
rs777402744
|
|
NM_001256071.3(RNF213):c.11797G>A (p.Val3933Met)
|
rs1181813391
|
|
NM_001256071.3(RNF213):c.1184C>T (p.Pro395Leu)
|
rs1555645286
|
|
NM_001256071.3(RNF213):c.11990G>A (p.Cys3997Tyr)
|
rs797045189
|
|
NM_001256071.3(RNF213):c.11999G>A (p.Cys4000Tyr)
|
|
|
NM_001256071.3(RNF213):c.12022G>A (p.Val4008Ile)
|
rs762259446
|
|
NM_001256071.3(RNF213):c.12094T>C (p.Cys4032Arg)
|
rs1555675572
|
|
NM_001256071.3(RNF213):c.12152A>C (p.His4051Pro)
|
rs1555675612
|
|
NM_001256071.3(RNF213):c.12185G>A (p.Arg4062Gln)
|
rs1555676035
|
|
NM_001256071.3(RNF213):c.12365A>T (p.Asp4122Val)
|
rs1555676146
|
|
NM_001256071.3(RNF213):c.12562G>A (p.Ala4188Thr)
|
rs1568149984
|
|
NM_001256071.3(RNF213):c.13062G>C (p.Lys4354Asn)
|
rs2144536464
|
|
NM_001256071.3(RNF213):c.13747C>T (p.Arg4583Trp)
|
rs1599190981
|
|
NM_001256071.3(RNF213):c.13751T>C (p.Leu4584Pro)
|
|
|
NM_001256071.3(RNF213):c.13822C>T (p.Pro4608Ser)
|
rs1356925198
|
|
NM_001256071.3(RNF213):c.13997C>T (p.Thr4666Ile)
|
rs2080083465
|
|
NM_001256071.3(RNF213):c.14850_14851insGGCAAACAGAGCGTGCAGCAG (p.Glu4950_Phe4951insGlyLysGlnSerValGlnGln)
|
rs797045188
|
|
NM_001256071.3(RNF213):c.15290C>T (p.Pro5097Leu)
|
|
|
NM_001256071.3(RNF213):c.1587_1589del (p.Ala531del)
|
rs797045186
|
|
NM_001256071.3(RNF213):c.2812-3C>G
|
|
|
NM_001256071.3(RNF213):c.2822G>T (p.Arg941Leu)
|
|
|
NM_001267571.2(TBC1D2):c.2261C>A (p.Thr754Lys)
|
rs774546155
|
|
NM_001613.4(ACTA2):c.*122T>C
|
rs886047451
|
|
NM_001613.4(ACTA2):c.129+4A>G
|
rs1390177518
|
|
NM_001613.4(ACTA2):c.290G>A (p.Arg97His)
|
|
|
NM_001613.4(ACTA2):c.323C>T (p.Thr108Met)
|
rs886038789
|
|
NM_001613.4(ACTA2):c.641T>C (p.Ile214Thr)
|
rs1845812659
|
|
NM_001613.4(ACTA2):c.78C>A (p.Asp26Glu)
|
rs141538225
|
|
NM_001733.7(C1R):c.853C>A (p.Leu285Met)
|
|
|
NM_001845.6(COL4A1):c.*36T>A
|
rs2138415337
|
|
NM_001845.6(COL4A1):c.*510A>G
|
rs886049954
|
|
NM_001845.6(COL4A1):c.*531T>A
|
rs886049953
|
|
NM_001845.6(COL4A1):c.*634AT[8]
|
rs886049952
|
|
NM_001845.6(COL4A1):c.*887del
|
rs886049951
|
|
NM_001845.6(COL4A1):c.*952A>G
|
rs1876400313
|
|
NM_001845.6(COL4A1):c.-90G>A
|
rs113651836
|
|
NM_001845.6(COL4A1):c.1081A>C (p.Lys361Gln)
|
rs1879231791
|
|
NM_001845.6(COL4A1):c.1121-986C>T
|
rs2139188713
|
|
NM_001845.6(COL4A1):c.144+1G>A
|
rs2139245731
|
|
NM_001845.6(COL4A1):c.1605C>T (p.Phe535=)
|
rs139448202
|
|
NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp)
|
rs397514624
|
|
NM_001845.6(COL4A1):c.1655C>T (p.Pro552Leu)
|
|
|
NM_001845.6(COL4A1):c.1670G>C (p.Arg557Thr)
|
|
|
NM_001845.6(COL4A1):c.1771G>A (p.Val591Ile)
|
rs1878413648
|
|
NM_001845.6(COL4A1):c.1789C>T (p.Arg597Cys)
|
rs767374916
|
|
NM_001845.6(COL4A1):c.2016A>G (p.Pro672=)
|
rs1391929875
|
|
NM_001845.6(COL4A1):c.2036G>T (p.Gly679Val)
|
rs2139169535
|
|
NM_001845.6(COL4A1):c.2143C>T (p.Arg715Cys)
|
|
|
NM_001845.6(COL4A1):c.2183A>G (p.Gln728Arg)
|
rs1878139161
|
|
NM_001845.6(COL4A1):c.2277C>A (p.Ser759Arg)
|
rs764059421
|
|
NM_001845.6(COL4A1):c.2440G>A (p.Gly814Arg)
|
rs1878014262
|
|
NM_001845.6(COL4A1):c.2472A>G (p.Ile824Met)
|
|
|
NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg)
|
rs776874008
|
|
NM_001845.6(COL4A1):c.2627-1G>A
|
rs1064796811
|
|
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)
|
rs146134172
|
|
NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu)
|
rs146134172
|
|
NM_001845.6(COL4A1):c.2774A>G (p.Asp925Gly)
|
rs1188217302
|
|
NM_001845.6(COL4A1):c.2848A>G (p.Lys950Glu)
|
|
|
NM_001845.6(COL4A1):c.2924G>A (p.Gly975Glu)
|
rs2139162708
|
|
NM_001845.6(COL4A1):c.2947_2964dup (p.Ala983_Gln988dup)
|
rs2139162654
|
|
NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=)
|
rs886049959
|
|
NM_001845.6(COL4A1):c.3077G>C (p.Gly1026Ala)
|
rs1877834496
|
|
NM_001845.6(COL4A1):c.3238G>A (p.Glu1080Lys)
|
rs1877800291
|
|
NM_001845.6(COL4A1):c.3241A>G (p.Lys1081Glu)
|
rs886049958
|
|
NM_001845.6(COL4A1):c.3353G>A (p.Gly1118Asp)
|
rs1566349690
|
|
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu)
|
rs1566349683
|
|
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
|
|
|
NM_001845.6(COL4A1):c.354C>T (p.Gly118=)
|
rs1879852432
|
|
NM_001845.6(COL4A1):c.3556+4A>G
|
|
|
NM_001845.6(COL4A1):c.3557-14T>C
|
rs886049957
|
|
NM_001845.6(COL4A1):c.3607C>T (p.Pro1203Ser)
|
|
|
NM_001845.6(COL4A1):c.364A>C (p.Ile122Leu)
|
|
|
NM_001845.6(COL4A1):c.380G>T (p.Gly127Val)
|
rs886049963
|
|
NM_001845.6(COL4A1):c.4021+14T>A
|
rs755709828
|
|
NM_001845.6(COL4A1):c.4433G>A (p.Gly1478Asp)
|
|
|
NM_001845.6(COL4A1):c.4463G>T (p.Gly1488Val)
|
|
|
NM_001845.6(COL4A1):c.446C>G (p.Pro149Arg)
|
rs1879801583
|
|
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val)
|
rs1343193102
|
|
NM_001845.6(COL4A1):c.460_461delinsAT (p.Gly154Met)
|
|
|
NM_001845.6(COL4A1):c.4660C>A (p.Pro1554Thr)
|
|
|
NM_001845.6(COL4A1):c.4928A>G (p.Lys1643Arg)
|
rs1876538166
|
|
NM_001845.6(COL4A1):c.495T>A (p.His165Gln)
|
rs762125888
|
|
NM_001845.6(COL4A1):c.4966C>T (p.Arg1656Cys)
|
rs377350886
|
|
NM_001845.6(COL4A1):c.5000GAA[1] (p.Arg1668del)
|
rs1294802953
|
|
NM_001845.6(COL4A1):c.647A>G (p.Glu216Gly)
|
|
|
NM_001845.6(COL4A1):c.766A>G (p.Thr256Ala)
|
rs886049962
|
|
NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu)
|
rs886049964
|
|
NM_001846.4(COL4A2):c.*22C>A
|
rs1884109665
|
|
NM_001846.4(COL4A2):c.*242C>T
|
rs886049982
|
|
NM_001846.4(COL4A2):c.*450G>T
|
rs541941155
|
|
NM_001846.4(COL4A2):c.*830T>C
|
rs886049984
|
|
NM_001846.4(COL4A2):c.-220C>T
|
rs1285340381
|
|
NM_001846.4(COL4A2):c.-277A>G
|
rs7989823
|
|
NM_001846.4(COL4A2):c.-44-5T>C
|
rs886049966
|
|
NM_001846.4(COL4A2):c.-77G>A
|
rs547827059
|
|
NM_001846.4(COL4A2):c.1340-1G>C
|
rs1566544453
|
|
NM_001846.4(COL4A2):c.1451G>C (p.Arg484Thr)
|
rs886049972
|
|
NM_001846.4(COL4A2):c.1453_1469del (p.Cys485fs)
|
|
|
NM_001846.4(COL4A2):c.1517G>A (p.Gly506Asp)
|
rs1881894360
|
|
NM_001846.4(COL4A2):c.1607G>A (p.Gly536Asp)
|
rs2139498756
|
|
NM_001846.4(COL4A2):c.1706G>A (p.Gly569Glu)
|
rs886049973
|
|
NM_001846.4(COL4A2):c.1772C>G (p.Pro591Arg)
|
rs886049974
|
|
NM_001846.4(COL4A2):c.186G>T (p.Gln62His)
|
|
|
NM_001846.4(COL4A2):c.1934G>A (p.Gly645Asp)
|
rs2139503632
|
|
NM_001846.4(COL4A2):c.2105G>C (p.Gly702Ala)
|
rs2139508226
|
|
NM_001846.4(COL4A2):c.2132G>A (p.Gly711Glu)
|
rs1199170231
|
|
NM_001846.4(COL4A2):c.2187G>T (p.Gly729=)
|
rs1319150301
|
|
NM_001846.4(COL4A2):c.2269C>T (p.Pro757Ser)
|
rs1882537795
|
|
NM_001846.4(COL4A2):c.2429G>A (p.Ser810Asn)
|
rs372516991
|
|
NM_001846.4(COL4A2):c.2515G>A (p.Gly839Arg)
|
|
|
NM_001846.4(COL4A2):c.2555C>T (p.Pro852Leu)
|
|
|
NM_001846.4(COL4A2):c.2758+8T>C
|
rs1882858975
|
|
NM_001846.4(COL4A2):c.284C>A (p.Ala95Asp)
|
rs754829210
|
|
NM_001846.4(COL4A2):c.286C>T (p.Pro96Ser)
|
rs1880406303
|
|
NM_001846.4(COL4A2):c.2908C>T (p.Arg970Ter)
|
|
|
NM_001846.4(COL4A2):c.305A>G (p.Lys102Arg)
|
rs1302254625
|
|
NM_001846.4(COL4A2):c.3094A>G (p.Ile1032Val)
|
rs2139529268
|
|
NM_001846.4(COL4A2):c.316-5C>G
|
rs886049967
|
|
NM_001846.4(COL4A2):c.3205del (p.Arg1069fs)
|
|
|
NM_001846.4(COL4A2):c.3208-14A>G
|
rs886049977
|
|
NM_001846.4(COL4A2):c.3277A>G (p.Ile1093Val)
|
|
|
NM_001846.4(COL4A2):c.3332C>T (p.Thr1111Ile)
|
rs886049979
|
|
NM_001846.4(COL4A2):c.3397C>T (p.Pro1133Ser)
|
rs1883277373
|
|
NM_001846.4(COL4A2):c.3473G>C (p.Gly1158Ala)
|
|
|
NM_001846.4(COL4A2):c.361-5C>T
|
rs886049968
|
|
NM_001846.4(COL4A2):c.3884G>A (p.Arg1295Gln)
|
|
|
NM_001846.4(COL4A2):c.3896G>A (p.Gly1299Glu)
|
rs2139552061
|
|
NM_001846.4(COL4A2):c.3915T>C (p.Ala1305=)
|
rs886049980
|
|
NM_001846.4(COL4A2):c.3976G>A (p.Gly1326Arg)
|
|
|
NM_001846.4(COL4A2):c.398G>T (p.Gly133Val)
|
|
|
NM_001846.4(COL4A2):c.4230_4257del (p.Pro1413fs)
|
|
|
NM_001846.4(COL4A2):c.4264C>T (p.Gln1422Ter)
|
|
|
NM_001846.4(COL4A2):c.431C>G (p.Ser144Ter)
|
|
|
NM_001846.4(COL4A2):c.4452C>T (p.Arg1484=)
|
rs1883883239
|
|
NM_001846.4(COL4A2):c.4453A>G (p.Ser1485Gly)
|
rs753103440
|
|
NM_001846.4(COL4A2):c.4561G>A (p.Glu1521Lys)
|
rs182278784
|
|
NM_001846.4(COL4A2):c.4903G>C (p.Gly1635Arg)
|
|
|
NM_001846.4(COL4A2):c.4969G>A (p.Glu1657Lys)
|
rs1232600556
|
|
NM_001846.4(COL4A2):c.49C>G (p.Leu17Val)
|
rs200430407
|
|
NM_001846.4(COL4A2):c.5111G>T (p.Arg1704Leu)
|
rs747313370
|
|
NM_001846.4(COL4A2):c.5125A>G (p.Met1709Val)
|
rs370681819
|
|
NM_001846.4(COL4A2):c.549+5G>A
|
rs886049969
|
|
NM_001846.4(COL4A2):c.670C>G (p.Pro224Ala)
|
rs1240828595
|
|
NM_001846.4(COL4A2):c.751A>G (p.Asn251Asp)
|
rs1880869213
|
|
NM_001846.4(COL4A2):c.922G>C (p.Gly308Arg)
|
rs2139468768
|
|
NM_001846.4(COL4A2):c.964C>T (p.Arg322Ter)
|
|
|
NM_001846.4(COL4A2):c.992A>G (p.Asp331Gly)
|
rs886049971
|
|
NM_002775.5(HTRA1):c.847G>A (p.Gly283Arg)
|
rs766433250
|
|
NM_002880.4(RAF1):c.1471A>C (p.Thr491Pro)
|
|
|
NM_004444.5(EPHB4):c.1960A>T (p.Thr654Ser)
|
|
|
NM_005188.4(CBL):c.1190G>A (p.Gly397Glu)
|
|
|
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)
|
rs756530482
|
|
NM_005188.4(CBL):c.1400T>C (p.Leu467Pro)
|
rs1385198964
|
|
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del)
|
rs755938138
|
|
NM_005359.6(SMAD4):c.1060G>A (p.Val354Met)
|
rs1910123378
|
|
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg)
|
rs368637364
|
|
NM_018676.4(THSD1):c.1021+5G>A
|
|
|
NM_018676.4(THSD1):c.1619dup (p.Met540fs)
|
rs2137721052
|
|
NM_021871.4(FGA):c.1048G>A (p.Gly350Arg)
|
|
|
NM_021871.4(FGA):c.475G>A (p.Val159Ile)
|
|
|
NM_021999.5(ITM2B):c.193C>T (p.Leu65Phe)
|
rs1951769958
|
|
NM_021999.5(ITM2B):c.50A>G (p.Lys17Arg)
|
rs1951647457
|
|
NM_021999.5(ITM2B):c.92C>G (p.Pro31Arg)
|
rs150336652
|
|
NM_024656.4(COLGALT1):c.1355T>C (p.Met452Thr)
|
|
|
NM_024656.4(COLGALT1):c.385G>A (p.Glu129Lys)
|
|
|
NM_024656.4(COLGALT1):c.513C>G (p.Ile171Met)
|
|
|
NM_031443.4(CCM2):c.1283T>G (p.Ile428Ser)
|
rs1784229890
|
|
NM_033305.3(VPS13A):c.9257T>C (p.Met3086Thr)
|
rs753597538
|
|
NM_053025.4(MYLK):c.2149G>A (p.Asp717Asn)
|
rs150936840
|
|
NM_139027.6(ADAMTS13):c.3420C>A (p.His1140Gln)
|
|
|