ClinVar Miner

Variants with conflicting interpretations between ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and Invitae

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
11033 3946 0 835 547 7 111 1500

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign association pathogenic, low penetrance other
pathogenic 0 18 8 1 1 0 2 0
likely pathogenic 126 0 19 1 1 1 1 0
uncertain significance 51 28 0 373 150 0 0 0
likely benign 1 0 21 0 606 0 0 0
benign 0 0 3 85 0 0 0 3

All variants with conflicting interpretations #

Total variants: 1500
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515 0.25425
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_003126.4(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695 0.01729
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782 0.01437
NM_004972.4(JAK2):c.1177C>G (p.Leu393Val) rs2230723 0.01376
NM_003126.4(SPTA1):c.4490G>A (p.Gly1497Glu) rs41273523 0.01332
NM_003126.4(SPTA1):c.2520G>C (p.Glu840Asp) rs34577746 0.01305
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu) rs34313873 0.01205
NM_001498.4(GCLC):c.1384C>T (p.Pro462Ser) rs17883718 0.01172
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_001142864.4(PIEZO1):c.4475G>A (p.Gly1492Asp) rs8051003 0.01135
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg) rs148594123 0.01015
NM_001142864.4(PIEZO1):c.6734G>A (p.Arg2245Gln) rs2290901 0.01007
NM_003126.4(SPTA1):c.3989G>T (p.Arg1330Ile) rs34214405 0.00972
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) rs111980420 0.00939
NM_145045.5(ODAD3):c.1501G>A (p.Gly501Ser) rs77133587 0.00924
NM_001142864.4(PIEZO1):c.748G>A (p.Val250Ile) rs115486714 0.00895
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln) rs115799619 0.00868
NM_003126.4(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271 0.00862
NM_001142864.4(PIEZO1):c.998G>A (p.Arg333His) rs139099911 0.00845
NM_003126.4(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436 0.00813
NM_000398.7(CYB5R3):c.898G>A (p.Val300Ile) rs61743746 0.00802
NM_001142864.4(PIEZO1):c.1702C>T (p.Leu568=) rs114584865 0.00796
NM_002439.5(MSH3):c.1567G>A (p.Glu523Lys) rs34058399 0.00789
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093 0.00784
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_001355436.2(SPTB):c.1765G>A (p.Ala589Thr) rs61459051 0.00757
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) rs61745086 0.00748
NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr) rs75368761 0.00748
NM_000215.4(JAK3):c.2164G>A (p.Val722Ile) rs3213409 0.00743
NM_001142864.4(PIEZO1):c.5552C>T (p.Thr1851Met) rs34370460 0.00731
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_002506.3(NGF):c.214G>A (p.Val72Met) rs11466110 0.00727
NM_001291303.3(FAT4):c.12071G>A (p.Arg4024Gln) rs28515675 0.00726
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_000298.6(PKLR):c.1269+43T>C rs8177982 0.00718
NM_004984.4(KIF5A):c.396+14G>A rs17119769 0.00700
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_003126.4(SPTA1):c.3149C>T (p.Pro1050Leu) rs116297260 0.00678
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539 0.00672
NM_001498.4(GCLC):c.1524G>A (p.Thr508=) rs17881359 0.00669
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr) rs144380633 0.00655
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_001142864.4(PIEZO1):c.6222C>T (p.Phe2074=) rs34388120 0.00654
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu) rs112613526 0.00622
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082 0.00610
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_018076.5(ODAD2):c.612T>A (p.Asp204Glu) rs61729354 0.00602
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg) rs34830861 0.00599
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser) rs139883132 0.00597
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr) rs62640939 0.00591
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_052945.4(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766 0.00573
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_001142864.4(PIEZO1):c.2466C>T (p.Thr822=) rs138064042 0.00549
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486 0.00541
NM_182925.5(FLT4):c.3460G>A (p.Gly1154Arg) rs75614493 0.00541
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144 0.00539
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) rs116535684 0.00539
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_000532.5(PCCB):c.546G>A (p.Arg182=) rs61598773 0.00533
NM_000208.4(INSR):c.1123+13G>T rs72549236 0.00526
NM_001142864.4(PIEZO1):c.1723G>A (p.Val575Met) rs187832410 0.00523
NM_001377229.1(DISP1):c.3287T>C (p.Met1096Thr) rs144673025 0.00523
NM_001142864.4(PIEZO1):c.4770G>A (p.Val1590=) rs183221795 0.00516
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_024996.7(GFM1):c.568A>C (p.Met190Leu) rs75450876 0.00510
NM_002863.5(PYGL):c.176C>T (p.Thr59Met) rs150483902 0.00507
NM_001457.4(FLNB):c.3785G>C (p.Gly1262Ala) rs111330368 0.00503
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) rs41316003 0.00500
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522 0.00499
NM_001457.4(FLNB):c.7099G>A (p.Val2367Ile) rs115747856 0.00488
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) rs192628905 0.00486
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_003126.4(SPTA1):c.5834-15G>A rs192889943 0.00480
NM_001142864.4(PIEZO1):c.7240G>A (p.Asp2414Asn) rs58548913 0.00473
NM_001142864.4(PIEZO1):c.5694G>C (p.Glu1898Asp) rs201829917 0.00472
NM_144687.4(NLRP12):c.3046C>T (p.Arg1016Ter) rs35064500 0.00470
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) rs78690642 0.00459
NM_002878.4(RAD51D):c.695G>A (p.Arg232Gln) rs28363283 0.00457
NM_001918.5(DBT):c.1282-13_1282-9del rs761681999 0.00456
NM_003126.4(SPTA1):c.3160A>T (p.Thr1054Ser) rs145054175 0.00453
NM_006904.7(PRKDC):c.10684T>A (p.Leu3562Met) rs8178232 0.00453
NM_015340.4(LARS2):c.1552G>A (p.Asp518Asn) rs116826217 0.00451
NM_001142864.4(PIEZO1):c.1199G>A (p.Arg400Gln) rs139100986 0.00450
NM_000342.4(SLC4A1):c.12G>A (p.Leu4=) rs115901854 0.00447
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) rs17215402 0.00439
NM_000188.3(HK1):c.1515C>T (p.Asn505=) rs140498607 0.00438
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_003126.4(SPTA1):c.6850G>A (p.Asp2284Asn) rs138732899 0.00433
NM_021254.4(CFAP298):c.622G>A (p.Val208Met) rs61735781 0.00433
NM_000316.3(PTH1R):c.436C>A (p.Arg146=) rs143863124 0.00428
NM_001142864.4(PIEZO1):c.4866G>A (p.Glu1622=) rs60253125 0.00426
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691 0.00426
NM_003126.4(SPTA1):c.1078A>T (p.Thr360Ser) rs34133563 0.00424
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) rs41273533 0.00424
NM_003126.4(SPTA1):c.3398G>C (p.Arg1133Pro) rs35733059 0.00420
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln) rs202103485 0.00418
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403 0.00417
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) rs200970763 0.00414
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val) rs116216229 0.00409
NM_005529.7(HSPG2):c.5756G>A (p.Arg1919His) rs62642521 0.00408
NM_001291303.3(FAT4):c.10853C>T (p.Thr3618Met) rs111423173 0.00407
NM_001530.4(HIF1A):c.1253C>T (p.Thr418Ile) rs41508050 0.00407
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_001142864.4(PIEZO1):c.4439-15G>T rs141469687 0.00406
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525 0.00406
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser) rs117474773 0.00404
NM_001142864.4(PIEZO1):c.3456-10G>A rs188761308 0.00403
NM_005529.7(HSPG2):c.3847G>A (p.Val1283Ile) rs62642527 0.00403
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_001142864.4(PIEZO1):c.1281G>A (p.Ala427=) rs146687530 0.00396
NM_000081.4(LYST):c.1686G>C (p.Gln562His) rs77091385 0.00394
NM_000188.3(HK1):c.691+13C>T rs41279654 0.00393
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00392
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg) rs116605132 0.00388
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_001127671.2(LIFR):c.420G>A (p.Glu140=) rs142475175 0.00380
NM_001142864.4(PIEZO1):c.718A>G (p.Ile240Val) rs114403731 0.00374
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849 0.00373
NM_174889.5(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480 0.00369
NM_001498.4(GCLC):c.1563C>T (p.Asp521=) rs2066509 0.00368
NM_003126.4(SPTA1):c.5911G>A (p.Asp1971Asn) rs116466258 0.00367
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_201596.3(CACNB2):c.1488+13_1488+33dup rs757040188 0.00361
NM_020191.4(MRPS22):c.741C>G (p.His247Gln) rs140631494 0.00357
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107 0.00355
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466 0.00355
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_012073.5(CCT5):c.1059G>A (p.Leu353=) rs114634318 0.00353
NM_001142864.4(PIEZO1):c.1297-6G>A rs111945967 0.00352
NM_000459.5(TEK):c.1346A>G (p.Asn449Ser) rs149684174 0.00351
NM_005529.7(HSPG2):c.2850T>C (p.Pro950=) rs115322282 0.00351
NM_031229.4(RBCK1):c.756+3G>A rs146804136 0.00350
NM_000188.3(HK1):c.828G>A (p.Glu276=) rs41279658 0.00349
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307 0.00349
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser) rs55667289 0.00349
NM_000208.4(INSR):c.2946-14T>C rs138585749 0.00347
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739 0.00347
NM_002863.5(PYGL):c.424+6T>A rs146741789 0.00346
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_000342.4(SLC4A1):c.216G>T (p.Glu72Asp) rs13306788 0.00342
NM_004637.6(RAB7A):c.495G>A (p.Ala165=) rs146566121 0.00341
NM_000294.3(PHKG2):c.96-10G>T rs74015042 0.00340
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_001142864.4(PIEZO1):c.1072C>T (p.Leu358=) rs145579632 0.00338
NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe) rs73281150 0.00338
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_005529.7(HSPG2):c.1959A>C (p.Gln653His) rs62642535 0.00333
NM_000142.5(FGFR3):c.1535-8G>T rs111460786 0.00332
NM_000398.7(CYB5R3):c.45A>G (p.Pro15=) rs111649710 0.00329
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_145045.5(ODAD3):c.254G>A (p.Arg85Gln) rs143192349 0.00328
NM_001142864.4(PIEZO1):c.5461G>A (p.Gly1821Ser) rs78574543 0.00327
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00326
NM_003126.4(SPTA1):c.4477C>T (p.Arg1493Trp) rs35237700 0.00325
NM_001142864.4(PIEZO1):c.3928G>A (p.Val1310Ile) rs34606201 0.00322
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_000436.4(OXCT1):c.650G>T (p.Arg217Leu) rs142383658 0.00320
NM_001355436.2(SPTB):c.4699G>C (p.Asp1567His) rs138126360 0.00318
NM_000398.7(CYB5R3):c.432C>T (p.Gly144=) rs112669378 0.00315
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612 0.00314
NM_000540.3(RYR1):c.9685+16C>T rs45496799 0.00312
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu) rs62642502 0.00312
NM_003126.4(SPTA1):c.679G>A (p.Glu227Lys) rs199598260 0.00310
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_003126.4(SPTA1):c.793A>G (p.Asn265Asp) rs183647059 0.00307
NM_001498.4(GCLC):c.1478-16C>A rs185146268 0.00306
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His) rs112062179 0.00305
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008 0.00302
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=) rs199779296 0.00300
NM_003978.5(PSTPIP1):c.908C>T (p.Pro303Leu) rs189773500 0.00298
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_031475.3(ESPN):c.1386A>G (p.Val462=) rs150033799 0.00296
NM_002296.4(LBR):c.995C>T (p.Ala332Val) rs141647564 0.00293
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn) rs116679717 0.00293
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) rs34615430 0.00292
NM_003126.4(SPTA1):c.1731G>T (p.Leu577Phe) rs34211240 0.00291
NM_005529.7(HSPG2):c.9514-3C>T rs114851424 0.00291
NM_020661.4(AICDA):c.74G>A (p.Arg25His) rs61730095 0.00289
NM_001291303.3(FAT4):c.4303A>G (p.Ile1435Val) rs142747281 0.00288
NM_001322934.2(NFKB2):c.21+13G>A rs199513883 0.00288
NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val) rs373038988 0.00288
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_003978.5(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017 0.00284
NM_005591.4(MRE11):c.1783+5G>C rs142082313 0.00284
NM_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_006506.5(RASA2):c.1603A>G (p.Ile535Val) rs143035190 0.00283
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_001184.4(ATR):c.7504-16A>G rs111927479 0.00279
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_001142864.4(PIEZO1):c.835G>A (p.Gly279Ser) rs188815734 0.00277
NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser) rs61737098 0.00277
NM_145045.5(ODAD3):c.1203G>A (p.Arg401=) rs199934107 0.00277
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_001142864.4(PIEZO1):c.3935C>T (p.Ala1312Val) rs34246477 0.00274
NM_001364905.1(LRBA):c.6448+17A>G rs183652080 0.00274
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_002439.5(MSH3):c.2511G>A (p.Leu837=) rs149628160 0.00270
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832 0.00269
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu) rs34082669 0.00268
NM_006182.4(DDR2):c.1382C>T (p.Ser461Leu) rs140710321 0.00268
NM_144687.4(NLRP12):c.2701G>C (p.Val901Leu) rs104895568 0.00265
NM_003126.4(SPTA1):c.5838T>C (p.Asp1946=) rs200330662 0.00264
NM_014639.4(SKIC3):c.4344A>G (p.Leu1448=) rs139074002 0.00264
NM_000557.5(GDF5):c.388G>A (p.Gly130Arg) rs114550865 0.00263
NM_022041.4(GAN):c.1502+11A>G rs143413333 0.00263
NM_004958.4(MTOR):c.985G>A (p.Ala329Thr) rs35903812 0.00262
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_005529.7(HSPG2):c.7511G>A (p.Arg2504His) rs62642517 0.00261
NM_001457.4(FLNB):c.292+14C>G rs200721532 0.00260
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_003126.4(SPTA1):c.1817A>G (p.Asp606Gly) rs149441716 0.00259
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu) rs11558704 0.00258
NM_006182.4(DDR2):c.1504+11T>C rs77385055 0.00258
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310 0.00258
NM_000541.5(SAG):c.734-18C>A rs139840815 0.00256
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791 0.00254
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_005548.3(KARS1):c.1674C>T (p.Leu558=) rs143267922 0.00252
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00251
NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) rs142328132 0.00250
NM_003114.5(SPAG1):c.1226C>G (p.Thr409Ser) rs544372581 0.00250
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe) rs115198029 0.00250
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) rs199612744 0.00249
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_001853.4(COL9A3):c.1549-4C>A rs190389066 0.00247
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_001711.6(BGN):c.357C>T (p.Leu119=) rs146322407 0.00243
NM_003126.4(SPTA1):c.4302G>A (p.Lys1434=) rs77182042 0.00243
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720 0.00243
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=) rs116344406 0.00241
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser) rs114926839 0.00239
NM_005529.7(HSPG2):c.10110G>A (p.Lys3370=) rs141963344 0.00237
NM_000326.5(RLBP1):c.9A>C (p.Glu3Asp) rs146844731 0.00236
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_001291303.3(FAT4):c.1128G>A (p.Val376=) rs202216461 0.00236
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076 0.00235
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041 0.00234
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp) rs41545019 0.00233
NM_004304.5(ALK):c.1943C>T (p.Thr648Ile) rs116202066 0.00232
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_001142864.4(PIEZO1):c.4580G>A (p.Arg1527His) rs148870219 0.00229
NM_001457.4(FLNB):c.274A>G (p.Ile92Val) rs62622011 0.00229
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482 0.00228
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486 0.00228
NM_001093.4(ACACB):c.134A>G (p.Gln45Arg) rs139767464 0.00226
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563 0.00224
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile) rs34338511 0.00222
NM_001355436.2(SPTB):c.1896A>G (p.Gln632=) rs74056006 0.00222
NM_006506.5(RASA2):c.1020+20G>A rs113251297 0.00222
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr) rs55724159 0.00220
NM_005529.7(HSPG2):c.9789C>A (p.Leu3263=) rs137921473 0.00220
NM_021254.4(CFAP298):c.77A>C (p.Glu26Ala) rs138178722 0.00220
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646 0.00218
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_000152.5(GAA):c.2647-8C>T rs139201641 0.00216
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His) rs75291244 0.00213
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506 0.00212
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=) rs200858199 0.00210
NM_001142864.4(PIEZO1):c.1998-10C>T rs74033378 0.00209
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_004356.4(CD81):c.414T>C (p.Asp138=) rs143644902 0.00208
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) rs139872140 0.00207
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_005529.7(HSPG2):c.7191G>A (p.Ala2397=) rs2290499 0.00206
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680 0.00204
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_001365304.2(LOC112694756):c.*621+4C>T rs200278984 0.00204
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_001005242.3(PKP2):c.2168-19T>A rs527736735 0.00203
NM_001159773.2(CANT1):c.801C>T (p.Asn267=) rs138199925 0.00202
NM_012073.5(CCT5):c.331+14A>T rs201171003 0.00199
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851 0.00198
NM_005529.7(HSPG2):c.9327C>T (p.His3109=) rs61743674 0.00195
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val) rs114507258 0.00194
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_005340.7(HINT1):c.330C>T (p.His110=) rs139624223 0.00191
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val) rs141873943 0.00191
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_000188.3(HK1):c.1571-18C>T rs75829368 0.00187
NM_002103.5(GYS1):c.300+8G>A rs5454 0.00187
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_001142864.4(PIEZO1):c.5883T>C (p.Tyr1961=) rs115213894 0.00185
NM_001235.5(SERPINH1):c.722-13G>A rs116506210 0.00185
NM_005529.7(HSPG2):c.355-14G>C rs372356869 0.00185
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_000091.5(COL4A3):c.3566-9T>C rs147886850 0.00184
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_001457.4(FLNB):c.6231C>T (p.Asp2077=) rs145280904 0.00184
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
NM_006767.4(LZTR1):c.741C>T (p.Ser247=) rs114458679 0.00183
NM_000019.4(ACAT1):c.238+17C>T rs199918672 0.00182
NM_144687.4(NLRP12):c.2227A>C (p.Lys743Gln) rs74373537 0.00180
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_003036.4(SKI):c.1211+19C>T rs182600375 0.00178
NM_006371.5(CRTAP):c.732C>T (p.Leu244=) rs149119710 0.00178
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309 0.00177
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=) rs114513294 0.00176
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775 0.00176
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys) rs145656924 0.00175
NM_001353214.3(DYM):c.1717C>T (p.Leu573=) rs145279594 0.00174
NM_053013.4(ENO3):c.86-10C>T rs201571802 0.00174
NM_000188.3(HK1):c.2583C>T (p.Asp861=) rs145610109 0.00172
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489 0.00172
NM_001142864.4(PIEZO1):c.3969-12G>A rs200317312 0.00171
NM_002296.4(LBR):c.866G>A (p.Gly289Glu) rs148541545 0.00171
NM_002439.5(MSH3):c.1897-12T>A rs56244266 0.00171
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613 0.00170
NM_002296.4(LBR):c.837+19T>A rs77316576 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys) rs143459302 0.00169
NM_022041.4(GAN):c.1445C>T (p.Ala482Val) rs146576740 0.00169
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) rs145960317 0.00168
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00167
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_003978.5(PSTPIP1):c.657A>C (p.Gln219His) rs139362350 0.00166
NM_002529.4(NTRK1):c.1354+18A>T rs73004759 0.00164
NM_000298.6(PKLR):c.814C>G (p.Leu272Val) rs147659527 0.00163
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) rs140786324 0.00161
NM_001854.4(COL11A1):c.3729G>A (p.Gly1243=) rs148395062 0.00161
NM_003126.4(SPTA1):c.7104G>T (p.Lys2368Asn) rs112884419 0.00161
NM_144687.4(NLRP12):c.1063G>A (p.Glu355Lys) rs143855597 0.00161
NM_004972.4(JAK2):c.3178-12_3178-11insC rs533264615 0.00160
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470 0.00160
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_001358921.2(COQ2):c.1028T>C (p.Val343Ala) rs148156462 0.00159
NM_001375808.2(LPIN2):c.1410C>T (p.Thr470=) rs35932462 0.00159
NM_003126.4(SPTA1):c.5118C>T (p.His1706=) rs200945419 0.00159
NM_153676.4(USH1C):c.2491-16C>T rs200919289 0.00159
NM_000435.3(NOTCH3):c.3314G>C (p.Gly1105Ala) rs143764521 0.00158
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_001164688.2(RD3):c.494A>C (p.Asp165Ala) rs149051185 0.00158
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672 0.00157
NM_001142864.4(PIEZO1):c.4363G>A (p.Ala1455Thr) rs191656121 0.00156
NM_001142864.4(PIEZO1):c.64+17C>T rs577170711 0.00156
NM_002335.4(LRP5):c.2295G>A (p.Ser765=) rs140955013 0.00156
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_002335.4(LRP5):c.4623G>A (p.Thr1541=) rs139974816 0.00155
NM_021629.4(GNB4):c.186T>C (p.His62=) rs149798652 0.00155
NM_000463.3(UGT1A1):c.141C>T (p.Ile47=) rs34526305 0.00154
NM_003200.5(TCF3):c.750G>A (p.Pro250=) rs201703361 0.00154
NM_005422.4(TECTA):c.5160C>T (p.Asp1720=) rs142657158 0.00154
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_001498.4(GCLC):c.1039G>A (p.Asp347Asn) rs80120302 0.00153
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr) rs200382813 0.00153
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln) rs144060377 0.00151
NM_001291303.3(FAT4):c.5921-14C>T rs190218898 0.00151
NM_021167.5(GATAD1):c.762G>A (p.Gly254=) rs139637606 0.00151
NM_000188.3(HK1):c.375+19C>T rs202035445 0.00150
NM_000637.5(GSR):c.866T>C (p.Val289Ala) rs151187899 0.00150
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val) rs148337824 0.00150
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 0.00148
NM_000152.5(GAA):c.692+17G>C rs199559553 0.00147
NM_000883.4(IMPDH1):c.1489C>T (p.Arg497Trp) rs72624967 0.00147
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp) rs142990800 0.00147
NM_003126.4(SPTA1):c.5256G>A (p.Leu1752=) rs141683960 0.00146
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His) rs76458556 0.00145
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=) rs376598183 0.00145
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563 0.00145
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) rs145639192 0.00145
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689 0.00145
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031 0.00144
NM_001142864.4(PIEZO1):c.1465C>G (p.Arg489Gly) rs59550107 0.00144
NM_000316.3(PTH1R):c.1353+17C>T rs202140438 0.00143
NM_004086.3(COCH):c.1204A>G (p.Ile402Val) rs28362778 0.00143
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_001853.4(COL9A3):c.237G>A (p.Pro79=) rs141960487 0.00142
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser) rs149186357 0.00141
NM_003114.5(SPAG1):c.825C>T (p.Asn275=) rs150007121 0.00141
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060 0.00141
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=) rs111422496 0.00140
NM_001355436.2(SPTB):c.2881G>A (p.Val961Ile) rs149316006 0.00140
NM_001142864.4(PIEZO1):c.3813C>T (p.Asp1271=) rs116683709 0.00138
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00138
NM_001355436.2(SPTB):c.6045G>A (p.Ser2015=) rs149362111 0.00138
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073 0.00137
NM_000316.3(PTH1R):c.988+16G>A rs140651831 0.00136
NM_002439.5(MSH3):c.792+8G>A rs147777411 0.00136
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) rs200938874 0.00136
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) rs150225103 0.00135
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_022041.4(GAN):c.1612+12A>G rs150344737 0.00135
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00134
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_003126.4(SPTA1):c.1982G>A (p.Arg661His) rs201845149 0.00134
NM_014920.5(CILK1):c.666T>C (p.Thr222=) rs139739780 0.00133
NM_001364905.1(LRBA):c.4591T>G (p.Phe1531Val) rs114610541 0.00131
NM_002878.4(RAD51D):c.666A>G (p.Glu222=) rs114012742 0.00131
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 0.00131
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_001322934.2(NFKB2):c.2145G>A (p.Ser715=) rs200006038 0.00128
NM_001844.5(COL2A1):c.85+10C>G rs769941617 0.00128
NM_002626.6(PFKL):c.2209C>T (p.Arg737Trp) rs118106526 0.00128
NM_031443.4(CCM2):c.980A>G (p.Asn327Ser) rs150428392 0.00128
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu) rs190791051 0.00126
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506 0.00126
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001783.4(CD79A):c.419C>A (p.Thr140Asn) rs148797987 0.00126
NM_144687.4(NLRP12):c.1731G>A (p.Lys577=) rs73608454 0.00126
NM_003126.4(SPTA1):c.6132G>C (p.Leu2044=) rs186987240 0.00125
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00125
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00124
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=) rs112110009 0.00124
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052 0.00124
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=) rs77846212 0.00123
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_022124.6(CDH23):c.2781C>T (p.Tyr927=) rs375102725 0.00123
NM_005529.7(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330 0.00122
NM_005529.7(HSPG2):c.11169C>T (p.Phe3723=) rs139033413 0.00122
NM_001127217.3(SMAD9):c.65T>C (p.Leu22Pro) rs111748421 0.00121
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val) rs138655269 0.00121
NM_001377229.1(DISP1):c.1322C>T (p.Thr441Met) rs114523965 0.00120
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_001184.4(ATR):c.2776T>C (p.Phe926Leu) rs141783863 0.00119
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys) rs137979116 0.00118
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val) rs200511900 0.00117
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_001457.4(FLNB):c.2493C>T (p.Pro831=) rs145952210 0.00116
NM_001854.4(COL11A1):c.3277-13A>C rs371455495 0.00116
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) rs140317560 0.00116
NM_000335.5(SCN5A):c.1236C>T (p.Val412=) rs45565936 0.00114
NM_001355436.2(SPTB):c.4670A>G (p.Glu1557Gly) rs140648376 0.00113
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe) rs144456901 0.00113
NM_001142864.4(PIEZO1):c.7374C>G (p.Phe2458Leu) rs202127176 0.00112
NM_003126.4(SPTA1):c.174C>T (p.Phe58=) rs190704778 0.00110
NM_000478.6(ALPL):c.182-15C>G rs201873253 0.00109
NM_001142864.4(PIEZO1):c.7180G>A (p.Gly2394Ser) rs201950081 0.00109
NM_005591.4(MRE11):c.426C>T (p.Asp142=) rs3218740 0.00109
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile) rs140942230 0.00109
NM_001127671.2(LIFR):c.670A>G (p.Ile224Val) rs151282774 0.00108
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) rs115877891 0.00108
NM_005529.7(HSPG2):c.149A>T (p.His50Leu) rs138518139 0.00108
NM_006254.4(PRKCD):c.603C>T (p.Ile201=) rs75794462 0.00108
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_001142864.4(PIEZO1):c.2815C>A (p.Leu939Met) rs201226914 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu) rs146422412 0.00107
NM_001282426.2(PIK3CG):c.1722G>A (p.Leu574=) rs144082858 0.00106
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) rs139491925 0.00106
NM_000435.3(NOTCH3):c.4737-19C>T rs180755159 0.00105
NM_001142864.4(PIEZO1):c.6822C>T (p.Ser2274=) rs35686439 0.00105
NM_001844.5(COL2A1):c.709-8G>T rs200757693 0.00105
NM_003126.4(SPTA1):c.373G>A (p.Ala125Thr) rs201771255 0.00105
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu) rs199731143 0.00104
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036 0.00104
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His) rs759627248 0.00103
NM_001355436.2(SPTB):c.1838G>T (p.Ser613Ile) rs3742601 0.00103
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00103
NM_000188.3(HK1):c.2226G>A (p.Glu742=) rs141211718 0.00102
NM_000398.7(CYB5R3):c.463+13G>A rs150048774 0.00102
NM_000436.4(OXCT1):c.1080T>C (p.Asp360=) rs140869022 0.00102
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00101
NM_001355436.2(SPTB):c.2060G>A (p.Arg687His) rs3742602 0.00101
NM_003126.4(SPTA1):c.2655T>C (p.Arg885=) rs368544526 0.00101
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_005529.7(HSPG2):c.11671+11C>T rs368204073 0.00100
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) rs112775194 0.00100
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_000518.5(HBB):c.316-70C>G rs193922560 0.00099
NM_201596.3(CACNB2):c.1560T>C (p.Pro520=) rs150280879 0.00099
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079 0.00099
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala) rs144217005 0.00098
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn) rs200230894 0.00098
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) rs142653982 0.00098
NM_007272.3(CTRC):c.555G>A (p.Thr185=) rs113087202 0.00097
NM_005529.7(HSPG2):c.12072C>T (p.Asp4024=) rs146167897 0.00096
NM_007272.3(CTRC):c.494-6C>T rs111790169 0.00096
NM_002335.4(LRP5):c.263A>G (p.Lys88Arg) rs78219242 0.00095
NM_022124.6(CDH23):c.8980-12C>T rs111583276 0.00095
NM_003126.4(SPTA1):c.2889C>T (p.Asn963=) rs371639635 0.00094
NM_006231.4(POLE):c.1347G>A (p.Thr449=) rs142373951 0.00094
NM_016616.5(NME8):c.610A>G (p.Ile204Val) rs146777129 0.00094
NM_032447.5(FBN3):c.3088G>A (p.Asp1030Asn) rs142237067 0.00094
NM_022041.4(GAN):c.283-20T>C rs371984923 0.00093
NM_003126.4(SPTA1):c.4591G>C (p.Ala1531Pro) rs143779235 0.00092
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315 0.00091
NM_001457.4(FLNB):c.2453G>A (p.Arg818Gln) rs151259375 0.00091
NM_001530.4(HIF1A):c.1045G>A (p.Asp349Asn) rs142179458 0.00091
NM_003126.4(SPTA1):c.4694T>A (p.Leu1565Gln) rs202217097 0.00091
NM_003126.4(SPTA1):c.5310+17A>G rs371671685 0.00091
NM_003126.4(SPTA1):c.5457A>G (p.Leu1819=) rs186994154 0.00091
NM_004444.5(EPHB4):c.2484+11C>T rs201432441 0.00091
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu) rs140368756 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) rs77281462 0.00088
NM_003978.5(PSTPIP1):c.418-20A>G rs545542379 0.00088
NM_006017.3(PROM1):c.714A>G (p.Gly238=) rs201662148 0.00088
NM_001142864.4(PIEZO1):c.4668+12C>T rs368128554 0.00087
NM_001291303.3(FAT4):c.3682C>G (p.Gln1228Glu) rs200227715 0.00087
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys) rs115227204 0.00086
NM_000535.7(PMS2):c.251-20T>G rs149343081 0.00086
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987 0.00086
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln) rs141563188 0.00086
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00085
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446 0.00085
NM_001142864.4(PIEZO1):c.5874C>T (p.Thr1958=) rs150214594 0.00084
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys) rs61745147 0.00083
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357 0.00083
NM_002473.6(MYH9):c.1242C>T (p.Ile414=) rs138436678 0.00083
NM_002907.4(RECQL):c.1099-17A>G rs369816935 0.00083
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) rs145319352 0.00083
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327 0.00083
NM_005529.7(HSPG2):c.7096G>A (p.Gly2366Arg) rs140476180 0.00083
NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile) rs2229490 0.00083
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740 0.00083
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605 0.00081
NM_000352.6(ABCC8):c.4198+18C>T rs373178978 0.00081
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012 0.00081
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_000209.4(PDX1):c.165C>A (p.Gly55=) rs530567443 0.00078
NM_000283.4(PDE6B):c.1497T>G (p.Phe499Leu) rs150000610 0.00078
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) rs142559688 0.00078
NM_001184.4(ATR):c.5987T>C (p.Met1996Thr) rs150339560 0.00078
NM_001235.5(SERPINH1):c.492C>T (p.Arg164=) rs150586616 0.00078
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187 0.00078
NM_006254.4(PRKCD):c.315+9C>A rs200076653 0.00078
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met) rs143728180 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys) rs112250644 0.00077
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001142864.4(PIEZO1):c.5291A>C (p.Glu1764Ala) rs530387460 0.00077
NM_002335.4(LRP5):c.1413-7T>A rs141889567 0.00077
NM_002972.4(SBF1):c.3760C>T (p.Arg1254Cys) rs200180227 0.00077
NM_003737.4(DCHS1):c.704G>A (p.Arg235Gln) rs143767864 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00077
NM_000398.7(CYB5R3):c.471C>T (p.Phe157=) rs149158903 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met) rs112921115 0.00076
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His) rs147633715 0.00075
NM_000316.3(PTH1R):c.313+4C>T rs200207404 0.00074
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00074
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_003126.4(SPTA1):c.4564A>G (p.Thr1522Ala) rs201910178 0.00073
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_016239.4(MYO15A):c.3196G>C (p.Ala1066Pro) rs199537186 0.00073
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser) rs199910006 0.00071
NM_001184.4(ATR):c.2226T>C (p.Cys742=) rs147895945 0.00071
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_005529.7(HSPG2):c.11671+5G>A rs77527456 0.00070
NM_000637.5(GSR):c.694G>A (p.Gly232Ser) rs8190976 0.00069
NM_001142864.4(PIEZO1):c.2685C>T (p.Asn895=) rs533555270 0.00069
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412 0.00069
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys) rs146505418 0.00068
NM_001355436.2(SPTB):c.1606G>A (p.Asp536Asn) rs145675502 0.00068
NM_001854.4(COL11A1):c.489-7T>G rs372555374 0.00068
NM_003126.4(SPTA1):c.4862T>A (p.Phe1621Tyr) rs374298000 0.00068
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg) rs151242039 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_001142864.4(PIEZO1):c.1688C>T (p.Thr563Met) rs192347853 0.00067
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117 0.00067
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp) rs148033154 0.00067
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_001379180.1(ESRRB):c.*1517C>T rs201726554 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_003126.4(SPTA1):c.3389A>G (p.Asn1130Ser) rs202016242 0.00066
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00066
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00066
NM_181776.3(SLC36A2):c.1411G>A (p.Asp471Asn) rs140682366 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His) rs146326769 0.00065
NM_005529.7(HSPG2):c.3794-3C>A rs141000672 0.00065
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu) rs145792427 0.00063
NM_005529.7(HSPG2):c.10609G>A (p.Gly3537Arg) rs145048530 0.00063
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp) rs35891605 0.00063
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_001142864.4(PIEZO1):c.6661-12T>G rs540049109 0.00062
NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val) rs2233583 0.00062
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=) rs200993187 0.00062
NM_001291303.3(FAT4):c.5792A>G (p.Tyr1931Cys) rs139716832 0.00061
NM_002473.6(MYH9):c.4344+10C>T rs200977419 0.00061
NM_002529.4(NTRK1):c.602C>A (p.Pro201His) rs146201511 0.00061
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_206933.4(USH2A):c.6924A>G (p.Ala2308=) rs148504065 0.00061
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_001142864.4(PIEZO1):c.3699+6C>T rs147726156 0.00060
NM_007272.3(CTRC):c.640-14C>T rs202049497 0.00060
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr) rs200115167 0.00060
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998 0.00059
NM_000518.5(HBB):c.316-37G>T rs193922559 0.00058
NM_001142864.4(PIEZO1):c.4955+8C>T rs533263001 0.00058
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His) rs200555745 0.00058
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145 0.00057
NM_014797.3(ZBTB24):c.1688T>C (p.Ile563Thr) rs142830104 0.00057
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His) rs184280124 0.00057
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237 0.00056
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=) rs139912334 0.00056
NM_000518.4(HBB):c.*138T>G rs560643693 0.00056
NM_001142864.4(PIEZO1):c.3437C>T (p.Pro1146Leu) rs538640563 0.00056
NM_001142864.4(PIEZO1):c.997C>T (p.Arg333Cys) rs143004911 0.00056
NM_001159773.2(CANT1):c.1063G>A (p.Asp355Asn) rs145516713 0.00056
NM_001291303.3(FAT4):c.12769G>A (p.Glu4257Lys) rs143513466 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004656.4(BAP1):c.294C>T (p.Ser98=) rs140641333 0.00056
NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp) rs140929639 0.00056
NM_006371.5(CRTAP):c.655G>A (p.Gly219Ser) rs145048208 0.00056
NM_004304.5(ALK):c.469C>T (p.Pro157Ser) rs74774946 0.00055
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_003126.4(SPTA1):c.7068A>C (p.Glu2356Asp) rs78598639 0.00054
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000069.3(CACNA1S):c.3628G>A (p.Gly1210Arg) rs148870919 0.00053
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_002472.3(MYH8):c.1731G>C (p.Glu577Asp) rs75160168 0.00053
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00053
NM_080680.3(COL11A2):c.3975G>A (p.Ser1325=) rs139564431 0.00053
NM_000124.4(ERCC6):c.2741C>T (p.Thr914Met) rs142580756 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu) rs139457557 0.00051
NM_000095.3(COMP):c.218-7C>G rs554031979 0.00051
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn) rs201415651 0.00051
NM_001005242.3(PKP2):c.1379-2109G>A rs139159464 0.00050
NM_001142864.4(PIEZO1):c.4274G>A (p.Ser1425Asn) rs772788410 0.00050
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser) rs143165174 0.00050
NM_003126.4(SPTA1):c.4711T>G (p.Cys1571Gly) rs201601992 0.00049
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322 0.00049
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000142.5(FGFR3):c.1959+8C>T rs371666188 0.00048
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_001039213.4(CEACAM16):c.781G>A (p.Glu261Lys) rs201188632 0.00048
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp) rs189656371 0.00048
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615 0.00047
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908 0.00046
NM_003322.6(TULP1):c.823-4A>G rs200264819 0.00046
NM_007272.3(CTRC):c.231-14C>T rs374364850 0.00046
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00046
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053 0.00045
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_001142864.4(PIEZO1):c.6804G>A (p.Ala2268=) rs371847339 0.00045
NM_001355436.2(SPTB):c.5942G>A (p.Arg1981His) rs146513976 0.00045
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp) rs200714808 0.00045
NM_000342.4(SLC4A1):c.457C>A (p.Leu153Met) rs145041032 0.00044
NM_001114134.2(EPB42):c.581G>A (p.Arg194His) rs146348439 0.00044
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188 0.00044
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926 0.00043
NM_000435.3(NOTCH3):c.2411-11C>A rs201130717 0.00043
NM_001235.5(SERPINH1):c.97G>C (p.Ala33Pro) rs150061926 0.00043
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser) rs142718547 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_001114753.3(ENG):c.687C>T (p.Ala229=) rs376919650 0.00042
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln) rs146333270 0.00042
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn) rs199875471 0.00041
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His) rs35031555 0.00041
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001142864.4(PIEZO1):c.3434T>C (p.Val1145Ala) rs550993341 0.00041
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851 0.00041
NM_005428.4(VAV1):c.2161A>T (p.Met721Leu) rs149330066 0.00041
NM_144687.4(NLRP12):c.2927+11G>A rs376043494 0.00041
NM_000065.5(C6):c.186A>C (p.Glu62Asp) rs200359838 0.00040
NM_000298.6(PKLR):c.92C>T (p.Ala31Val) rs150077703 0.00040
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_005529.7(HSPG2):c.4396-5C>T rs117917442 0.00040
NM_022124.6(CDH23):c.2128A>G (p.Ile710Val) rs367750869 0.00040
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00039
NM_001876.4(CPT1A):c.336C>T (p.Thr112=) rs61731902 0.00039
NM_003126.4(SPTA1):c.2608G>A (p.Val870Met) rs140291959 0.00039
NM_003244.4(TGIF1):c.723G>A (p.Pro241=) rs114912664 0.00039
NM_000251.3(MSH2):c.1511-41G>C rs202215396 0.00038
NM_001142864.4(PIEZO1):c.1112T>G (p.Val371Gly) rs191302762 0.00038
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538 0.00038
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp) rs145635235 0.00038
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_000435.3(NOTCH3):c.1194C>T (p.Gly398=) rs140368657 0.00036
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp) rs115872852 0.00036
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu) rs371951525 0.00036
NM_001142864.4(PIEZO1):c.2590G>A (p.Val864Ile) rs565096713 0.00036
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His) rs147153006 0.00036
NM_004444.5(EPHB4):c.1384G>A (p.Gly462Arg) rs146674844 0.00036
NM_005026.5(PIK3CD):c.2094C>T (p.Phe698=) rs370548772 0.00036
NM_194248.3(OTOF):c.5292-9C>T rs372713647 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) rs201388114 0.00035
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln) rs34153370 0.00034
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=) rs376826051 0.00034
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile) rs141330288 0.00034
NM_001145809.2(MYH14):c.2233-13C>A rs368249273 0.00034
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_001457.4(FLNB):c.6515G>A (p.Arg2172His) rs139846706 0.00034
NM_002769.5(PRSS1):c.121C>T (p.Leu41=) rs369646357 0.00034
NM_003680.4(YARS1):c.1008G>A (p.Leu336=) rs140232925 0.00034
NM_004984.4(KIF5A):c.471C>T (p.His157=) rs143178113 0.00034
NM_005340.7(HINT1):c.111+6_111+7insC rs770851222 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000441.2(SLC26A4):c.1614+8C>T rs370184422 0.00032
NM_001457.4(FLNB):c.4061+4G>A rs370061963 0.00032
NM_003126.4(SPTA1):c.1688G>A (p.Arg563Gln) rs202243588 0.00032
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met) rs148056371 0.00032
NM_000342.4(SLC4A1):c.486-18C>T rs201023917 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro) rs370243498 0.00031
NM_004086.3(COCH):c.272G>A (p.Arg91Gln) rs188283330 0.00031
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276 0.00031
NM_032119.4(ADGRV1):c.596G>T (p.Ser199Ile) rs61745496 0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_001142864.4(PIEZO1):c.7471C>T (p.Arg2491Trp) rs201746476 0.00030
NM_015340.4(LARS2):c.1622+8G>A rs202009605 0.00030
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805 0.00030
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu) rs141204958 0.00029
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=) rs116392938 0.00029
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_001134363.3(RBM20):c.567G>T (p.Gln189His) rs377623370 0.00029
NM_001142864.4(PIEZO1):c.5647C>T (p.Arg1883Trp) rs200031013 0.00029
NM_002474.3(MYH11):c.1502G>A (p.Arg501His) rs144244239 0.00029
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) rs148028521 0.00029
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp) rs200504060 0.00028
NM_001128228.3(TPRN):c.1094A>G (p.Gln365Arg) rs780953179 0.00028
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075 0.00027
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400 0.00027
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_003126.4(SPTA1):c.4240C>T (p.Arg1414Cys) rs201399968 0.00026
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) rs139932041 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001142864.4(PIEZO1):c.5627G>A (p.Arg1876Lys) rs201967733 0.00025
NM_001355436.2(SPTB):c.982C>T (p.Arg328Cys) rs143293179 0.00025
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser) rs201676898 0.00025
NM_032119.4(ADGRV1):c.7468G>A (p.Ala2490Thr) rs143632883 0.00025
NM_000342.4(SLC4A1):c.337G>A (p.Val113Ile) rs142757938 0.00024
NM_000518.5(HBB):c.316-45G>C rs140033163 0.00024
NM_001142864.4(PIEZO1):c.6154G>A (p.Val2052Ile) rs564395221 0.00024
NM_001145809.2(MYH14):c.3871G>T (p.Val1291Leu) rs202242879 0.00024
NM_001844.5(COL2A1):c.1581+16G>A rs182598943 0.00024
NM_001854.4(COL11A1):c.898-15T>C rs200242905 0.00024
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_005422.4(TECTA):c.1461A>G (p.Gly487=) rs202127508 0.00024
NM_007272.3(CTRC):c.703G>A (p.Val235Ile) rs140993290 0.00024
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu) rs151296940 0.00024
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn) rs138626416 0.00024
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr) rs143628723 0.00024
NM_000342.4(SLC4A1):c.798T>C (p.Phe266=) rs193011645 0.00023
NM_000459.5(TEK):c.365-19G>A rs371486685 0.00023
NM_021939.4(FKBP10):c.850G>A (p.Gly284Arg) rs372214186 0.00023
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826 0.00023
NM_000435.3(NOTCH3):c.340+14A>G rs202136001 0.00022
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_001498.4(GCLC):c.1091A>G (p.Asp364Gly) rs151321990 0.00022
NM_032119.4(ADGRV1):c.12982G>A (p.Glu4328Lys) rs182452385 0.00022
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_000518.5(HBB):c.315+70G>C rs373152208 0.00021
NM_000557.5(GDF5):c.979C>G (p.Leu327Val) rs181772082 0.00021
NM_001142864.4(PIEZO1):c.1051C>T (p.Arg351Trp) rs959344565 0.00021
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr) rs185576553 0.00021
NM_001457.4(FLNB):c.3898+19G>A rs780062399 0.00021
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00021
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser) rs147974629 0.00021
NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly) rs140353351 0.00021
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637 0.00020
NM_001291303.3(FAT4):c.11380C>T (p.Arg3794Trp) rs201859188 0.00020
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613 0.00020
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316 0.00019
NM_000251.3(MSH2):c.481G>A (p.Val161Ile) rs149511545 0.00019
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650 0.00019
NM_001142864.4(PIEZO1):c.284-4G>A rs543289166 0.00019
NM_001142864.4(PIEZO1):c.3778G>A (p.Val1260Ile) rs776788949 0.00019
NM_001457.4(FLNB):c.2644G>C (p.Val882Leu) rs139124254 0.00019
NM_001844.5(COL2A1):c.4289C>T (p.Thr1430Met) rs147559634 0.00019
NM_002103.5(GYS1):c.207G>A (p.Thr69=) rs540438011 0.00019
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
NM_004304.5(ALK):c.487G>T (p.Val163Leu) rs55697431 0.00019
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544 0.00019
NM_006231.4(POLE):c.2781C>T (p.Asn927=) rs775486303 0.00019
NM_014920.5(CILK1):c.555G>A (p.Ala185=) rs138668959 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_144687.4(NLRP12):c.1054C>T (p.Arg352Cys) rs199881207 0.00019
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445 0.00018
NM_001498.4(GCLC):c.264-11C>A rs199775302 0.00018
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His) rs201822255 0.00018
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950 0.00018
NM_005428.4(VAV1):c.1536C>T (p.Thr512=) rs200254050 0.00018
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile) rs147532612 0.00018
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_001375808.2(LPIN2):c.2328-13A>T rs199830303 0.00017
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser) rs377198201 0.00017
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000316.3(PTH1R):c.357G>A (p.Pro119=) rs143692596 0.00016
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=) rs192863214 0.00016
NM_001034850.3(RETREG1):c.86C>T (p.Pro29Leu) rs528532732 0.00016
NM_001142864.4(PIEZO1):c.1447G>C (p.Val483Leu) rs747301309 0.00016
NM_001142864.4(PIEZO1):c.4891C>T (p.Arg1631Cys) rs566969453 0.00016
NM_001142864.4(PIEZO1):c.6829C>A (p.Leu2277Met) rs563555492 0.00016
NM_001142864.4(PIEZO1):c.7204G>C (p.Glu2402Gln) rs773860217 0.00016
NM_006231.4(POLE):c.6597C>T (p.Ile2199=) rs147611144 0.00016
NM_020320.5(RARS2):c.472_474del (p.Lys158del) rs757743894 0.00016
NM_032119.4(ADGRV1):c.18754G>A (p.Asp6252Asn) rs201800819 0.00016
NM_080916.3(DGUOK):c.366G>C (p.Gln122His) rs199645258 0.00016
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00016
NM_001364905.1(LRBA):c.3423C>T (p.Ala1141=) rs141442145 0.00015
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp) rs375804228 0.00015
NM_001457.4(FLNB):c.2095C>T (p.Arg699Trp) rs200554477 0.00015
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026 0.00015
NM_206933.4(USH2A):c.2332G>T (p.Asp778Tyr) rs142898216 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251 0.00014
NM_000142.5(FGFR3):c.930+10C>T rs534857289 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu) rs371738874 0.00014
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp) rs200372420 0.00014
NM_001142864.4(PIEZO1):c.5656G>A (p.Ala1886Thr) rs757753448 0.00014
NM_001142864.4(PIEZO1):c.950G>C (p.Gly317Ala) rs868678918 0.00014
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr) rs138001307 0.00014
NM_001844.5(COL2A1):c.246C>T (p.Phe82=) rs142161948 0.00014
NM_003126.4(SPTA1):c.749G>A (p.Arg250His) rs759192785 0.00014
NM_003978.5(PSTPIP1):c.555C>T (p.Thr185=) rs370782742 0.00014
NM_006767.4(LZTR1):c.2407-18G>A rs542841506 0.00014
NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met) rs754321329 0.00014
NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys) rs143933255 0.00013
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_001142864.4(PIEZO1):c.4496-13C>T rs543403418 0.00013
NM_001291303.3(FAT4):c.1099G>A (p.Val367Ile) rs747531733 0.00013
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=) rs75000411 0.00013
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr) rs367863299 0.00013
NM_022367.4(SEMA4A):c.1694-13C>G rs144540956 0.00013
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser) rs367549284 0.00012
NM_001142864.4(PIEZO1):c.7099G>A (p.Glu2367Lys) rs552562531 0.00012
NM_001159773.2(CANT1):c.632-15A>C rs186671535 0.00012
NM_001457.4(FLNB):c.1640C>T (p.Ala547Val) rs200619215 0.00012
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216 0.00012
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln) rs537908254 0.00012
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000352.6(ABCC8):c.102G>A (p.Val34=) rs189746511 0.00011
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln) rs143785916 0.00011
NM_001355436.2(SPTB):c.4511C>T (p.Ala1504Val) rs200876438 0.00011
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007 0.00011
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_005529.7(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935 0.00011
NM_006231.4(POLE):c.285+13C>A rs76960367 0.00011
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101 0.00011
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=) rs200556220 0.00010
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_001142864.4(PIEZO1):c.2759G>A (p.Arg920Gln) rs752372837 0.00010
NM_001142864.4(PIEZO1):c.6705C>T (p.Phe2235=) rs747798306 0.00010
NM_001355436.2(SPTB):c.1773C>G (p.Thr591=) rs565667858 0.00010
NM_001498.4(GCLC):c.984A>T (p.Arg328=) rs181411098 0.00010
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=) rs370644634 0.00010
NM_005529.7(HSPG2):c.4758C>T (p.Ala1586=) rs374708543 0.00010
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504 0.00010
NM_194248.3(OTOF):c.1732G>C (p.Val578Leu) rs144907002 0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000302.4(PLOD1):c.1203-3C>T rs376288573 0.00009
NM_000717.5(CA4):c.415A>T (p.Met139Leu) rs185658468 0.00009
NM_001142864.4(PIEZO1):c.5790C>G (p.Phe1930Leu) rs750027720 0.00009
NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln) rs141173028 0.00009
NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys) rs766543419 0.00009
NM_006005.3(WFS1):c.173C>T (p.Ala58Val) rs369671890 0.00009
NM_006005.3(WFS1):c.511G>A (p.Asp171Asn) rs758281375 0.00009
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878 0.00009
NM_007272.3(CTRC):c.533A>G (p.Gln178Arg) rs200678111 0.00009
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr) rs761546594 0.00009
NM_017433.5(MYO3A):c.315del (p.Gly106fs) rs777580042 0.00009
NM_130837.3(OPA1):c.2099A>G (p.Asn700Ser) rs142694017 0.00009
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_002234.4(KCNA5):c.544G>A (p.Gly182Arg) rs755408841 0.00008
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_000179.3(MSH6):c.2314C>A (p.Arg772=) rs63750138 0.00007
NM_000249.4(MLH1):c.42A>C (p.Thr14=) rs369737664 0.00007
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr) rs375253473 0.00007
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp) rs557113034 0.00007
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys) rs371391349 0.00007
NM_001457.4(FLNB):c.1873G>A (p.Glu625Lys) rs372998485 0.00007
NM_001457.4(FLNB):c.6221A>G (p.Lys2074Arg) rs148043654 0.00007
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala) rs200544452 0.00007
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890 0.00007
NM_007215.4(POLG2):c.328C>G (p.Leu110Val) rs782703026 0.00007
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=) rs766767923 0.00007
NM_153676.4(USH1C):c.2004C>A (p.Pro668=) rs201586291 0.00007
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile) rs775537775 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797 0.00006
NM_000162.5(GCK):c.600G>A (p.Val200=) rs773561406 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro) rs587779086 0.00006
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000289.6(PFKM):c.237+1G>A rs202143236 0.00006
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592 0.00006
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_001114753.3(ENG):c.1852+42C>T rs779974705 0.00006
NM_001134363.3(RBM20):c.3574-7T>G rs397516616 0.00006
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00006
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528 0.00006
NM_001498.4(GCLC):c.1486G>T (p.Ala496Ser) rs147154581 0.00006
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522 0.00006
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=) rs760234757 0.00006
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963 0.00006
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp) rs535956121 0.00006
NM_006005.3(WFS1):c.1724C>G (p.Ala575Gly) rs71524360 0.00006
NM_006231.4(POLE):c.5553-12C>G rs766922669 0.00006
NM_032119.4(ADGRV1):c.1684G>T (p.Ala562Ser) rs199636312 0.00006
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser) rs765423779 0.00005
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_001029883.3(PCARE):c.2890G>A (p.Gly964Ser) rs371925633 0.00005
NM_001114753.3(ENG):c.689+17G>A rs773103359 0.00005
NM_001457.4(FLNB):c.2096G>A (p.Arg699Gln) rs752842243 0.00005
NM_001457.4(FLNB):c.2965G>A (p.Val989Met) rs76471260 0.00005
NM_002296.4(LBR):c.1324T>C (p.Leu442=) rs61749338 0.00005
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val) rs777795072 0.00005
NM_006579.3(EBP):c.445A>G (p.Ile149Val) rs782032266 0.00005
NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr) rs199736893 0.00005
NM_194248.3(OTOF):c.2567A>T (p.Asn856Ile) rs752804141 0.00005
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371 0.00004
NM_000016.6(ACADM):c.388-3T>G rs764942250 0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00004
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser) rs199524907 0.00004
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856 0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000142.5(FGFR3):c.985G>A (p.Val329Ile) rs188723332 0.00004
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys) rs138871700 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 0.00004
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00004
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr) rs757351084 0.00004
NM_001142864.4(PIEZO1):c.1646C>T (p.Thr549Met) rs775326454 0.00004
NM_001142864.4(PIEZO1):c.765C>T (p.Phe255=) rs767600698 0.00004
NM_001457.4(FLNB):c.1135A>G (p.Ile379Val) rs374118649 0.00004
NM_002296.4(LBR):c.851C>T (p.Thr284Met) rs371750924 0.00004
NM_003978.5(PSTPIP1):c.687C>T (p.Asn229=) rs542286074 0.00004
NM_004984.4(KIF5A):c.341G>A (p.Arg114Gln) rs144277716 0.00004
NM_006182.4(DDR2):c.444T>C (p.Tyr148=) rs774706415 0.00004
NM_007272.3(CTRC):c.493+3G>A rs772436044 0.00004
NM_016204.4(GDF2):c.716C>T (p.Thr239Met) rs782560993 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_080680.3(COL11A2):c.3974C>T (p.Ser1325Leu) rs543145528 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_194248.3(OTOF):c.3637G>A (p.Gly1213Ser) rs140023414 0.00004
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) rs754359356 0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452 0.00003
NM_000249.4(MLH1):c.91G>T (p.Ala31Ser) rs749671520 0.00003
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302 0.00003
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511 0.00003
NM_000518.5(HBB):c.316-12T>C rs781604042 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp) rs199830512 0.00003
NM_001142864.4(PIEZO1):c.1207C>T (p.Arg403Trp) rs536446748 0.00003
NM_001142864.4(PIEZO1):c.6471+9G>A rs761913079 0.00003
NM_001235.5(SERPINH1):c.565A>G (p.Thr189Ala) rs138784081 0.00003
NM_001457.4(FLNB):c.2005A>G (p.Thr669Ala) rs147481678 0.00003
NM_001851.6(COL9A1):c.876+1G>C rs202232444 0.00003
NM_002246.3(KCNK3):c.1097C>T (p.Ala366Val) rs773773071 0.00003
NM_002529.4(NTRK1):c.219C>T (p.Ile73=) rs563296138 0.00003
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737 0.00003
NM_003126.4(SPTA1):c.5915C>A (p.Thr1972Asn) rs201463616 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_005458.8(GABBR2):c.664G>A (p.Glu222Lys) rs750467268 0.00003
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=) rs544565016 0.00003
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg) rs769482036 0.00003
NM_007272.3(CTRC):c.356+7G>C rs773334021 0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123 0.00003
NM_032119.4(ADGRV1):c.1094A>G (p.Asp365Gly) rs779719772 0.00003
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu) rs562253142 0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_000016.6(ACADM):c.158G>A (p.Arg53His) rs754938068 0.00002
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly) rs758476299 0.00002
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp) rs773677327 0.00002
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys) rs768884003 0.00002
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801 0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639 0.00002
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn) rs730881798 0.00002
NM_000179.3(MSH6):c.2950A>C (p.Asn984His) rs146359682 0.00002
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu) rs374135434 0.00002
NM_000251.3(MSH2):c.1937A>C (p.Asp646Ala) rs41295290 0.00002
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln) rs587779967 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg) rs370298215 0.00002
NM_001457.4(FLNB):c.1628T>C (p.Val543Ala) rs773177128 0.00002
NM_001457.4(FLNB):c.1897A>G (p.Met633Val) rs937051879 0.00002
NM_001844.5(COL2A1):c.157C>G (p.Arg53Gly) rs776744207 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_003126.4(SPTA1):c.1124T>C (p.Phe375Ser) rs929328527 0.00002
NM_003126.4(SPTA1):c.209T>G (p.Met70Arg) rs1469938477 0.00002
NM_003482.4(KMT2D):c.4865G>C (p.Gly1622Ala) rs377457393 0.00002
NM_005802.5(TOPORS):c.1365G>A (p.Thr455=) rs780866628 0.00002
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter) rs754982151 0.00002
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser) rs139401491 0.00002
NM_080680.3(COL11A2):c.5170C>T (p.Arg1724Trp) rs762351406 0.00002
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile) rs766140986 0.00001
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp) rs781424858 0.00001
NM_000016.6(ACADM):c.447G>T (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala) rs745844469 0.00001
NM_000016.6(ACADM):c.599+1G>A rs866388216 0.00001
NM_000016.6(ACADM):c.599+5G>A rs875989861 0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln) rs373852490 0.00001
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828 0.00001
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg) rs370282954 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573 0.00001
NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys) rs2277447 0.00001
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997 0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854 0.00001
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser) rs761632029 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000155.4(GALT):c.241G>C (p.Ala81Pro) rs111033665 0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266 0.00001
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val) rs730881788 0.00001
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala) rs376452612 0.00001
NM_000179.3(MSH6):c.3339T>G (p.Ile1113Met) rs786202044 0.00001
NM_000179.3(MSH6):c.628-2A>G rs1114167725 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) rs587778998 0.00001
NM_000249.4(MLH1):c.650G>A (p.Arg217His) rs762099920 0.00001
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser) rs267607967 0.00001
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser) rs747504492 0.00001
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys) rs587779971 0.00001
NM_000251.3(MSH2):c.440T>G (p.Val147Gly) rs760851623 0.00001
NM_000251.3(MSH2):c.962C>G (p.Thr321Ser) rs1233448699 0.00001
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg) rs769922244 0.00001
NM_000289.6(PFKM):c.888G>A (p.Leu296=) rs753083173 0.00001
NM_000297.4(PKD2):c.2295T>C (p.Asp765=) rs138982773 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000342.4(SLC4A1):c.2055C>T (p.Thr685=) rs375136281 0.00001
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr) rs754815179 0.00001
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466 0.00001
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.299C>T (p.Thr100Met) rs1201942473 0.00001
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496 0.00001
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000541.5(SAG):c.511A>G (p.Lys171Glu) rs552862207 0.00001
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066 0.00001
NM_001114753.3(ENG):c.633C>T (p.Gly211=) rs928192105 0.00001
NM_001114753.3(ENG):c.943G>A (p.Val315Met) rs763508329 0.00001
NM_001142864.4(PIEZO1):c.3740T>G (p.Phe1247Cys) rs907173644 0.00001
NM_001142864.4(PIEZO1):c.5619T>C (p.Phe1873=) rs1433038327 0.00001
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln) rs559847737 0.00001
NM_001142864.4(PIEZO1):c.7130-5C>A rs1357808025 0.00001
NM_001278116.2(L1CAM):c.726G>T (p.Leu242=) rs200813995 0.00001
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001457.4(FLNB):c.1808C>T (p.Ser603Leu) rs764538938 0.00001
NM_001457.4(FLNB):c.2356C>T (p.Arg786Trp) rs201452322 0.00001
NM_001457.4(FLNB):c.4774G>A (p.Val1592Ile) rs754360853 0.00001
NM_001457.4(FLNB):c.6211G>A (p.Val2071Ile) rs201831615 0.00001
NM_001498.4(GCLC):c.1632C>T (p.Asn544=) rs913611013 0.00001
NM_001754.5(RUNX1):c.1396A>T (p.Met466Leu) rs762213305 0.00001
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu) rs904660062 0.00001
NM_003126.4(SPTA1):c.6631C>T (p.Arg2211Cys) rs773800556 0.00001
NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=) rs747438612 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser) rs772652517 0.00001
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256 0.00001
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln) rs373197800 0.00001
NM_005529.7(HSPG2):c.8017C>T (p.Arg2673Ter) rs745338204 0.00001
NM_005591.4(MRE11):c.1225+10T>G rs863224734 0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083 0.00001
NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs) rs1368779496 0.00001
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser) rs751977111 0.00001
NM_014249.4(NR2E3):c.1007T>C (p.Leu336Pro) rs752883545 0.00001
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys) rs193302867 0.00001
NM_020320.5(RARS2):c.1406G>A (p.Arg469His) rs759331139 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022787.4(NMNAT1):c.471A>G (p.Ala157=) rs373788044 0.00001
NM_032119.4(ADGRV1):c.17276A>G (p.Asn5759Ser) rs375445058 0.00001
NM_032119.4(ADGRV1):c.690A>C (p.Glu230Asp) rs397517434 0.00001
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter) rs1457208099 0.00001
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His) rs138667578 0.00001
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880 0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287 0.00001
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr) rs200754053
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys) rs2071355499
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro) rs201350598
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp) rs781613690
NM_000018.4(ACADVL):c.1678+3_1678+6del rs759135941
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter) rs1555529186
NM_000018.4(ACADVL):c.1882del (p.Gln628fs) rs1597541142
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro) rs1131691808
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro) rs768975918
NM_000018.4(ACADVL):c.623-1G>A rs1597526782
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.889_891del (p.Glu297del) rs796051914
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro) rs1940810597
NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg)
NM_000053.4(ATP7B):c.2231C>T (p.Ser744Phe) rs1958498953
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly) rs752634617
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr) rs1057520235
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) rs1455758826
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) rs1340729837
NM_000053.4(ATP7B):c.2866-2del rs1593681941
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) rs1038582488
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000092.5(COL4A4):c.594+1G>A rs1553690565
NM_000095.3(COMP):c.1318G>C (p.Gly440Arg) rs1601053997
NM_000141.5(FGFR2):c.2328C>T (p.Leu776=) rs148478597
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000142.5(FGFR3):c.912C>G (p.Pro304=) rs201012537
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) rs775317639
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.617A>G (p.Gln206Arg) rs1587239309
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000179.3(MSH6):c.1795G>C (p.Gly599Arg) rs756043669
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.3(MSH6):c.3173-18T>A rs189672273
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000249.4(MLH1):c.207+2T>C rs267607722
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000251.3(MSH2):c.1387-14_1387-11del rs370436680
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser) rs749212640
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile) rs201118107
NM_000251.3(MSH2):c.1760-7del rs754968844
NM_000251.3(MSH2):c.646-11T>C rs879254124
NM_000251.3(MSH2):c.698C>G (p.Ser233Cys) rs587781724
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg) rs1064794704
NM_000251.3(MSH2):c.956A>G (p.Asp319Gly) rs786204185
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala) rs143023066
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000289.6(PFKM):c.1063-6C>A rs371033104
NM_000298.6(PKLR):c.1219G>A (p.Glu407Lys) rs866472917
NM_000298.6(PKLR):c.1378G>A (p.Val460Met) rs752034960
NM_000298.6(PKLR):c.1670G>C (p.Gly557Ala) rs1674489086
NM_000298.6(PKLR):c.993C>A (p.Asp331Glu) rs138476691
NM_000302.4(PLOD1):c.1903-14dup rs748794198
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) rs28933990
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.4(SLC4A1):c.1627-3C>T
NM_000342.4(SLC4A1):c.2057+1G>A rs2047371081
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000342.4(SLC4A1):c.609+1G>A rs1362663440
NM_000342.4(SLC4A1):c.733G>A (p.Val245Met) rs148170067
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn) rs61749450
NM_000352.6(ABCC8):c.2695-20G>A
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000398.7(CYB5R3):c.334-15G>A
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) rs1599391536
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.1607-14T>C
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg) rs1568359346
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly) rs1599395616
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys) rs2046832726
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr) rs1599394351
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp) rs939755872
NM_000441.2(SLC26A4):c.765+2T>C rs397516432
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000463.3(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) rs35350960
NM_000463.3(UGT1A1):c.964A>G (p.Ile322Val) rs200903749
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser) rs1644755212
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg) rs1644512630
NM_000478.6(ALPL):c.534C>T (p.Tyr178=) rs201250289
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys) rs786204473
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del) rs753338851
NM_000517.4(HBA2):c.427T>G (p.Ter143Glu) rs41464951
NM_000518.4(HBB):c.-136C>G rs33994806
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000531.6(OTC):c.903A>T (p.Leu301Phe) rs72558462
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202
NM_000539.3(RHO):c.563G>A (p.Gly188Glu) rs1424131846
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) rs193922744
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met) rs914804033
NM_001005373.4(LRSAM1):c.72+10del rs1554753226
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg) rs2131885848
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly) rs751787590
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1429-8C>G rs376169815
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) rs1830376644
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) rs1830302008
NM_001114753.3(ENG):c.360+5G>A rs1060501417
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_001127453.2(GSDME):c.1183+5G>A rs777359423
NM_001142864.4(PIEZO1):c.1179C>G (p.Ser393=) rs780119372
NM_001142864.4(PIEZO1):c.1187G>A (p.Arg396Gln)
NM_001142864.4(PIEZO1):c.1211C>T (p.Ala404Val)
NM_001142864.4(PIEZO1):c.1447G>A (p.Val483Met) rs747301309
NM_001142864.4(PIEZO1):c.1792G>A (p.Val598Met) rs2142820621
NM_001142864.4(PIEZO1):c.1917G>C (p.Leu639=)
NM_001142864.4(PIEZO1):c.2247GGA[9] (p.Glu756dup) rs59446030
NM_001142864.4(PIEZO1):c.2248G>C (p.Glu750Gln)
NM_001142864.4(PIEZO1):c.2661C>T (p.Thr887=)
NM_001142864.4(PIEZO1):c.2731G>A (p.Val911Met) rs554899632
NM_001142864.4(PIEZO1):c.2860C>A (p.Arg954=) rs765257824
NM_001142864.4(PIEZO1):c.2860C>T (p.Arg954Trp) rs765257824
NM_001142864.4(PIEZO1):c.2875G>A (p.Ala959Thr) rs770222800
NM_001142864.4(PIEZO1):c.3433G>A (p.Val1145Met)
NM_001142864.4(PIEZO1):c.359G>A (p.Arg120Gln)
NM_001142864.4(PIEZO1):c.3626G>A (p.Arg1209Gln)
NM_001142864.4(PIEZO1):c.3699+20G>C rs4424896
NM_001142864.4(PIEZO1):c.3699+20_3699+21delinsCG rs1904465031
NM_001142864.4(PIEZO1):c.4316C>T (p.Ser1439Leu)
NM_001142864.4(PIEZO1):c.4956-17C>T
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=) rs369279313
NM_001142864.4(PIEZO1):c.5340C>T (p.Asp1780=) rs372159659
NM_001142864.4(PIEZO1):c.5389C>T (p.Arg1797Cys)
NM_001142864.4(PIEZO1):c.5515G>A (p.Glu1839Lys) rs77170706
NM_001142864.4(PIEZO1):c.5636A>G (p.Glu1879Gly)
NM_001142864.4(PIEZO1):c.5743C>A (p.Arg1915Ser) rs13338527
NM_001142864.4(PIEZO1):c.5778G>A (p.Arg1926=)
NM_001142864.4(PIEZO1):c.5846T>G (p.Ile1949Ser)
NM_001142864.4(PIEZO1):c.5991C>T (p.Asp1997=)
NM_001142864.4(PIEZO1):c.6494AGA[4] (p.Lys2169del) rs763477215
NM_001142864.4(PIEZO1):c.6796G>A (p.Val2266Ile) rs546338962
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
NM_001142864.4(PIEZO1):c.7007G>A (p.Arg2336Gln)
NM_001142864.4(PIEZO1):c.7472_7477dup (p.Arg2491_Glu2492dup) rs755226463
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001289125.3(IFNAR2):c.157T>C (p.Ser53Pro) rs1987287426
NM_001291303.3(FAT4):c.739C>A (p.Pro247Thr) rs191329848
NM_001291415.2(KDM6A):c.1874C>T (p.Ser625Phe) rs765545282
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1169-7dup rs746626720
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001457.4(FLNB):c.107G>A (p.Arg36His) rs142568031
NM_001457.4(FLNB):c.1327G>C (p.Val443Leu) rs200902568
NM_001457.4(FLNB):c.4515-24GT[4] rs151085835
NM_001844.5(COL2A1):c.1052G>T (p.Gly351Val) rs1939615464
NM_001844.5(COL2A1):c.1331G>T (p.Gly444Val) rs1939463507
NM_001844.5(COL2A1):c.1453G>A (p.Ala485Thr) rs556023617
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His) rs142168567
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter) rs1201247953
NM_001854.4(COL11A1):c.1063T>C (p.Ser355Pro) rs141036911
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1792-39ATG[12] rs71752747
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del) rs144879674
NM_002234.4(KCNA5):c.92G>T (p.Gly31Val) rs61737395
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter) rs777054839
NM_002473.6(MYH9):c.4009G>A (p.Glu1337Lys) rs1038334022
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln) rs762308378
NM_002769.5(PRSS1):c.346C>T (p.Arg116Cys) rs387906698
NM_002863.5(PYGL):c.1970-7C>G
NM_003051.4(SLC16A1):c.362-58TATT[9] rs149491709
NM_003073.5(SMARCB1):c.90C>T (p.Ser30=) rs761868468
NM_003126.4(SPTA1):c.121C>A (p.Arg41=) rs121918640
NM_003126.4(SPTA1):c.1703G>A (p.Arg568His) rs200829664
NM_003126.4(SPTA1):c.1833+1G>A rs1035389616
NM_003126.4(SPTA1):c.401A>G (p.Glu134Gly)
NM_003126.4(SPTA1):c.4833G>A (p.Arg1611=) rs145288947
NM_003126.4(SPTA1):c.4875+12C>T rs139797540
NM_003126.4(SPTA1):c.5834-18A>G
NM_003126.4(SPTA1):c.6121-11del rs548425429
NM_003126.4(SPTA1):c.6533C>T (p.Ala2178Val)
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.83G>T (p.Arg28Leu) rs121918641
NM_003200.5(TCF3):c.888C>T (p.Ala296=) rs34203855
NM_003238.6(TGFB2):c.510+12TTG[11] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[13] rs10482769
NM_003238.6(TGFB2):c.510+12TTG[9] rs10482769
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352
NM_003322.6(TULP1):c.915G>A (p.Val305=) rs1040415272
NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser)
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003978.5(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003978.5(PSTPIP1):c.1221C>A (p.Phe407Leu) rs200363654
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004444.5(EPHB4):c.1423-6G>A rs762817852
NM_004444.5(EPHB4):c.2484+1G>A rs927772349
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp) rs769965440
NM_004984.4(KIF5A):c.2314C>T (p.Arg772Ter) rs1555178616
NM_004984.4(KIF5A):c.397-16_397-14del rs375316447
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_005529.7(HSPG2):c.10204G>A (p.Val3402Met) rs150666616
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005529.7(HSPG2):c.12110G>T (p.Arg4037Leu) rs143015575
NM_005529.7(HSPG2):c.5997+13del rs529255698
NM_005529.7(HSPG2):c.744_745inv (p.Val249Met)
NM_005529.7(HSPG2):c.8336G>A (p.Arg2779Gln) rs529205824
NM_005529.7(HSPG2):c.9329-8_9329-7delinsTT rs386629395
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) rs397517197
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) rs141225426
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006258.4(PRKG1):c.546G>A (p.Gly182=) rs73336216
NM_006308.3(HSPB3):c.347G>C (p.Arg116Pro) rs150931007
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_007272.3(CTRC):c.-59C>T rs183658182
NM_007272.3(CTRC):c.231-2A>G rs1570783505
NM_007272.3(CTRC):c.480G>A (p.Trp160Ter)
NM_007272.3(CTRC):c.737G>T (p.Arg246Leu) rs147925927
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs) rs917547961
NM_014639.4(SKIC3):c.4497-14dup rs755628334
NM_014920.5(CILK1):c.534C>T (p.Ser178=) rs543243399
NM_015139.3(SLC35D1):c.393-5dup rs5774854
NM_015340.4(LARS2):c.945G>A (p.Ser315=) rs145135580
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_020435.4(GJC2):c.1084G>A (p.Ala362Thr) rs565574386
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del) rs746050475
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_024009.3(GJB3):c.109G>A (p.Val37Met) rs148388884
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del) rs727503069
NM_032119.4(ADGRV1):c.7150C>T (p.Arg2384Trp) rs377475657
NM_033056.4(PCDH15):c.5363TTCCTC[1] (p.1788LP[1]) rs779691085
NM_144687.4(NLRP12):c.2754G>A (p.Leu918=) rs61741347
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly) rs201619538
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_194248.3(OTOF):c.510-7del
NM_194248.3(OTOF):c.5479C>T (p.Arg1827Trp) rs142748621
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser) rs62640381
NM_201596.3(CACNB2):c.1670C>T (p.Ser557Leu) rs137886839

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