NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_001372.4(DNAH9):c.12640G>T (p.Gly4214Cys)
|
rs144547132
|
0.00180
|
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)
|
rs201934623
|
0.00163
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser)
|
rs138307707
|
0.00078
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_001098511.3(KIF2A):c.382T>C (p.Ser128Pro)
|
rs138408434
|
0.00067
|
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His)
|
rs146326769
|
0.00065
|
NM_198576.4(AGRN):c.1198C>T (p.Arg400Trp)
|
rs149636063
|
0.00032
|
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)
|
rs752492870
|
0.00023
|
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter)
|
rs149102421
|
0.00021
|
NM_006129.5(BMP1):c.2446C>G (p.Pro816Ala)
|
rs150161793
|
0.00018
|
NM_006205.3(PDE6H):c.237G>C (p.Gln79His)
|
rs564659543
|
0.00016
|
NM_001346022.3(USP45):c.1636A>T (p.Lys546Ter)
|
rs189281869
|
0.00013
|
NM_000271.5(NPC1):c.3550G>A (p.Val1184Met)
|
rs767795351
|
0.00011
|
NM_001160148.2(DDHD1):c.340T>C (p.Ser114Pro)
|
rs756788863
|
0.00011
|
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)
|
rs147852216
|
0.00010
|
NM_000312.4(PROC):c.113G>A (p.Arg38Gln)
|
rs773107370
|
0.00010
|
NM_020461.4(TUBGCP6):c.1340T>C (p.Val447Ala)
|
rs985345843
|
0.00009
|
NM_001792.5(CDH2):c.893A>G (p.Asn298Ser)
|
rs200798903
|
0.00008
|
NM_006941.4(SOX10):c.644G>A (p.Arg215Gln)
|
rs779933527
|
0.00007
|
NM_014009.4(FOXP3):c.361C>T (p.His121Tyr)
|
rs782640594
|
0.00007
|
NM_000038.6(APC):c.2527A>G (p.Ser843Gly)
|
rs536223189
|
0.00006
|
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)
|
rs373124557
|
0.00006
|
NM_015102.5(NPHP4):c.2930C>T (p.Thr977Met)
|
rs569364202
|
0.00006
|
NM_018105.3(THAP1):c.427A>G (p.Met143Val)
|
rs374512193
|
0.00006
|
NM_000138.5(FBN1):c.4162C>T (p.Arg1388Cys)
|
rs770860280
|
0.00005
|
NM_000512.5(GALNS):c.1286C>T (p.Thr429Ile)
|
rs768180795
|
0.00005
|
NM_003718.5(CDK13):c.4097G>A (p.Arg1366His)
|
rs3801237
|
0.00005
|
NM_000048.4(ASL):c.1358G>A (p.Arg453His)
|
rs762805462
|
0.00004
|
NM_000829.4(GRIA4):c.2615G>A (p.Arg872His)
|
rs756483110
|
0.00004
|
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)
|
rs112735431
|
0.00004
|
NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter)
|
rs370678173
|
0.00004
|
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys)
|
rs771490182
|
0.00004
|
NM_014694.4(ADAMTSL2):c.493G>A (p.Ala165Thr)
|
rs764516811
|
0.00004
|
NM_000487.6(ARSA):c.902G>A (p.Arg301Gln)
|
rs573456864
|
0.00003
|
NM_001199138.2(NLRC4):c.2728G>A (p.Val910Ile)
|
rs144418059
|
0.00003
|
NM_001377.3(DYNC2H1):c.7784A>G (p.His2595Arg)
|
rs755505546
|
0.00003
|
NM_001457.4(FLNB):c.7723G>A (p.Val2575Ile)
|
rs369949841
|
0.00003
|
NM_006767.4(LZTR1):c.1610G>A (p.Arg537Gln)
|
rs769150226
|
0.00003
|
NM_000260.4(MYO7A):c.5086C>T (p.Arg1696Trp)
|
rs781335672
|
0.00002
|
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys)
|
rs756853742
|
0.00002
|
NM_000363.5(TNNI3):c.143A>C (p.Gln48Pro)
|
rs200720341
|
0.00002
|
NM_000455.5(STK11):c.463G>T (p.Gly155Trp)
|
rs763353991
|
0.00002
|
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val)
|
rs370830919
|
0.00002
|
NM_003361.4(UMOD):c.1360G>A (p.Gly454Ser)
|
rs774173431
|
0.00002
|
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met)
|
rs747082651
|
0.00002
|
NM_031475.3(ESPN):c.1870G>A (p.Ala624Thr)
|
rs758680191
|
0.00002
|
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=)
|
rs751202110
|
0.00001
|
NM_000059.4(BRCA2):c.5683G>A (p.Glu1895Lys)
|
rs146351301
|
0.00001
|
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val)
|
rs755433765
|
0.00001
|
NM_000251.3(MSH2):c.274C>G (p.Leu92Val)
|
rs587779154
|
0.00001
|
NM_000260.4(MYO7A):c.3245C>T (p.Thr1082Met)
|
rs377393431
|
0.00001
|
NM_000492.4(CFTR):c.3468+6T>C
|
rs547442588
|
0.00001
|
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn)
|
rs759157781
|
0.00001
|
NM_000531.6(OTC):c.368G>A (p.Ser123Asn)
|
rs776830576
|
0.00001
|
NM_001039591.3(USP9X):c.7461A>C (p.Glu2487Asp)
|
rs769126922
|
0.00001
|
NM_001040142.2(SCN2A):c.5726C>T (p.Ala1909Val)
|
rs772819993
|
0.00001
|
NM_001235.5(SERPINH1):c.1214G>A (p.Arg405His)
|
rs781125078
|
0.00001
|
NM_001242896.3(DEPDC5):c.1460G>A (p.Arg487Gln)
|
rs775080915
|
0.00001
|
NM_001257291.2(SLC9A7):c.1520G>A (p.Arg507His)
|
rs1231947331
|
0.00001
|
NM_001273.5(CHD4):c.4756A>G (p.Thr1586Ala)
|
rs1366977058
|
0.00001
|
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser)
|
rs367567630
|
0.00001
|
NM_001365276.2(TNXB):c.3002C>T (p.Pro1001Leu)
|
rs768607753
|
0.00001
|
NM_001365951.3(KIF1B):c.4922C>T (p.Ser1641Phe)
|
rs748589511
|
0.00001
|
NM_001365999.1(SZT2):c.2086C>T (p.Arg696Trp)
|
rs574115531
|
0.00001
|
NM_001458.5(FLNC):c.6200G>A (p.Arg2067His)
|
rs776520014
|
0.00001
|
NM_001999.4(FBN2):c.7145G>A (p.Arg2382Gln)
|
rs757161476
|
0.00001
|
NM_002641.4(PIGA):c.247C>G (p.Leu83Val)
|
rs1335237092
|
0.00001
|
NM_002778.4(PSAP):c.875T>G (p.Val292Gly)
|
rs758866050
|
0.00001
|
NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)
|
rs128626249
|
0.00001
|
NM_004360.5(CDH1):c.781G>A (p.Glu261Lys)
|
rs121964873
|
0.00001
|
NM_004519.4(KCNQ3):c.1552G>A (p.Ala518Thr)
|
rs745463637
|
0.00001
|
NM_006015.6(ARID1A):c.4783A>G (p.Met1595Val)
|
rs1463725053
|
0.00001
|
NM_006545.5(NPRL2):c.661C>T (p.Arg221Cys)
|
rs751736902
|
0.00001
|
NM_006946.4(SPTBN2):c.6736G>A (p.Val2246Met)
|
rs369469000
|
0.00001
|
NM_007118.4(TRIO):c.3559A>G (p.Ile1187Val)
|
rs950757813
|
0.00001
|
NM_013275.6(ANKRD11):c.274C>T (p.Arg92Trp)
|
rs1482187297
|
0.00001
|
NM_014141.6(CNTNAP2):c.3047G>A (p.Arg1016Gln)
|
rs143879959
|
0.00001
|
NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr)
|
rs730881187
|
0.00001
|
NM_018417.6(ADCY10):c.1401G>C (p.Glu467Asp)
|
rs761630756
|
0.00001
|
NM_031157.4(HNRNPA1):c.1099G>A (p.Gly367Ser)
|
rs772603507
|
0.00001
|
NM_031407.7(HUWE1):c.5441A>G (p.Asn1814Ser)
|
rs1556970140
|
0.00001
|
NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln)
|
rs779998311
|
0.00001
|
NM_145239.3(PRRT2):c.839T>C (p.Met280Thr)
|
rs1419914220
|
0.00001
|
NM_182961.4(SYNE1):c.23288A>G (p.Glu7763Gly)
|
rs765427429
|
0.00001
|
NC_000007.14:g.(154772943_154794078)_(154894712_?)dup
|
|
|
NM_000021.4(PSEN1):c.514TTG[1] (p.Leu174del)
|
rs1595026031
|
|
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly)
|
rs1566641934
|
|
NM_000023.4(SGCA):c.37G>A (p.Val13Ile)
|
|
|
NM_000031.6(ALAD):c.520C>T (p.Arg174Cys)
|
rs758622234
|
|
NM_000038.6(APC):c.1820G>C (p.Cys607Ser)
|
rs1554083153
|
|
NM_000046.5(ARSB):c.1291G>C (p.Ala431Pro)
|
|
|
NM_000051.4(ATM):c.1834C>T (p.Leu612Phe)
|
rs747242300
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
|
NM_000051.4(ATM):c.6324G>T (p.Gln2108His)
|
rs2136169496
|
|
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu)
|
rs576279166
|
|
NM_000059.4(BRCA2):c.6952C>G (p.Arg2318Gly)
|
rs80358920
|
|
NM_000064.4(C3):c.1125C>A (p.Phe375Leu)
|
|
|
NM_000070.3(CAPN3):c.266A>G (p.Tyr89Cys)
|
|
|
NM_000089.4(COL1A2):c.1145G>T (p.Gly382Val)
|
|
|
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met)
|
rs1339426358
|
|
NM_000094.4(COL7A1):c.4237_4241delinsACAGA (p.Pro1413_Gly1414delinsThrAsp)
|
|
|
NM_000126.4(ETFA):c.731C>T (p.Ala244Val)
|
|
|
NM_000142.5(FGFR3):c.200G>C (p.Gly67Ala)
|
rs369232922
|
|
NM_000152.5(GAA):c.1453A>C (p.Thr485Pro)
|
rs1337100943
|
|
NM_000153.4(GALC):c.1350C>G (p.Ser450Arg)
|
|
|
NM_000157.4(GBA1):c.835C>G (p.Leu279Val)
|
rs1057519020
|
|
NM_000179.3(MSH6):c.2365A>C (p.Asn789His)
|
rs2104402954
|
|
NM_000198.4(HSD3B2):c.611C>A (p.Ala204Asp)
|
|
|
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg)
|
rs1434209913
|
|
NM_000202.8(IDS):c.470C>G (p.Pro157Arg)
|
|
|
NM_000202.8(IDS):c.482C>T (p.Ser161Phe)
|
|
|
NM_000249.4(MLH1):c.200G>T (p.Gly67Val)
|
rs63749939
|
|
NM_000249.4(MLH1):c.884+6G>A
|
rs1575496158
|
|
NM_000257.4(MYH7):c.2596T>C (p.Ser866Pro)
|
rs1892629291
|
|
NM_000263.4(NAGLU):c.95T>C (p.Val32Ala)
|
|
|
NM_000271.5(NPC1):c.1408G>C (p.Ala470Pro)
|
|
|
NM_000271.5(NPC1):c.2509A>G (p.Ile837Val)
|
rs756239485
|
|
NM_000283.4(PDE6B):c.2117A>T (p.Lys706Met)
|
|
|
NM_000297.4(PKD2):c.1129A>C (p.Ser377Arg)
|
|
|
NM_000316.3(PTH1R):c.617T>C (p.Val206Ala)
|
rs2031894011
|
|
NM_000329.3(RPE65):c.644-5T>A
|
rs2100819923
|
|
NM_000345.4(SNCA):c.391-14T>C
|
|
|
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu)
|
rs1564854760
|
|
NM_000404.4(GLB1):c.253C>A (p.Pro85Thr)
|
rs1575472038
|
|
NM_000404.4(GLB1):c.495_497del (p.Leu166del)
|
rs754077128
|
|
NM_000404.4(GLB1):c.545C>G (p.Thr182Arg)
|
rs758577863
|
|
NM_000424.4(KRT5):c.504G>C (p.Glu168Asp)
|
|
|
NM_000430.4(PAFAH1B1):c.118-11_118-7del
|
rs1555526298
|
|
NM_000435.3(NOTCH3):c.5081G>A (p.Arg1694Gln)
|
|
|
NM_000451.4(SHOX):c.547G>C (p.Val183Leu)
|
|
|
NM_000475.5(NR0B1):c.1082T>G (p.Ile361Ser)
|
|
|
NM_000489.6(ATRX):c.3422G>A (p.Ser1141Asn)
|
rs782785569
|
|
NM_000512.5(GALNS):c.121-7C>G
|
rs1004936255
|
|
NM_000531.6(OTC):c.125T>A (p.Leu42His)
|
|
|
NM_000540.3(RYR1):c.10958T>A (p.Phe3653Tyr)
|
rs2145723708
|
|
NM_000548.5(TSC2):c.1258G>C (p.Glu420Gln)
|
|
|
NM_000548.5(TSC2):c.5092A>C (p.Ser1698Arg)
|
|
|
NM_000557.5(GDF5):c.1111G>T (p.Glu371Ter)
|
|
|
NM_000751.3(CHRND):c.497C>T (p.Ser166Phe)
|
rs528286132
|
|
NM_000814.6(GABRB3):c.1280A>G (p.His427Arg)
|
|
|
NM_000829.4(GRIA4):c.919G>A (p.Val307Met)
|
|
|
NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser)
|
rs1299106178
|
|
NM_001039770.3(TMPPE):c.-398_-397del
|
|
|
NM_001040108.2(MLH3):c.2312A>T (p.Glu771Val)
|
|
|
NM_001042492.3(NF1):c.2761G>A (p.Val921Met)
|
rs567023433
|
|
NM_001042492.3(NF1):c.6818A>G (p.Lys2273Arg)
|
rs1060500344
|
|
NM_001042702.5(PJVK):c.370G>A (p.Val124Met)
|
|
|
NM_001080414.4(CCDC88C):c.161+5G>A
|
rs1887078001
|
|
NM_001080414.4(CCDC88C):c.6035C>T (p.Pro2012Leu)
|
rs771028975
|
|
NM_001080414.4(CCDC88C):c.739G>A (p.Glu247Lys)
|
|
|
NM_001089.3(ABCA3):c.1136G>A (p.Gly379Asp)
|
rs2093701667
|
|
NM_001100913.3(PACS2):c.369C>A (p.Asn123Lys)
|
rs1435095726
|
|
NM_001103.4(ACTN2):c.937A>T (p.Met313Leu)
|
|
|
NM_001110792.2(MECP2):c.1147C>T (p.His383Tyr)
|
rs2148661028
|
|
NM_001127178.3(PIGG):c.1830T>A (p.Cys610Ter)
|
rs1560343436
|
|
NM_001127222.2(CACNA1A):c.4471G>A (p.Val1491Ile)
|
|
|
NM_001127222.2(CACNA1A):c.6901C>G (p.Pro2301Ala)
|
rs1351010453
|
|
NM_001128.6(AP1G1):c.1621G>C (p.Val541Leu)
|
|
|
NM_001128840.3(CACNA1D):c.3455T>C (p.Ile1152Thr)
|
rs2108865550
|
|
NM_001130987.2(DYSF):c.1493+2dup
|
rs753885022
|
|
NM_001136157.2(OTUD5):c.655A>G (p.Lys219Glu)
|
|
|
NM_001142864.4(PIEZO1):c.2165C>T (p.Pro722Leu)
|
|
|
NM_001160148.2(DDHD1):c.53GCG[6] (p.Gly22dup)
|
rs752119831
|
|
NM_001162501.2(TNRC6B):c.4286G>A (p.Arg1429Gln)
|
|
|
NM_001162501.2(TNRC6B):c.865G>T (p.Gly289Cys)
|
|
|
NM_001164508.2(NEB):c.21302T>G (p.Leu7101Trp)
|
|
|
NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp)
|
rs1057518671
|
|
NM_001165963.4(SCN1A):c.602+1G>A
|
|
|
NM_001199753.2(CPT1C):c.2002T>C (p.Ser668Pro)
|
|
|
NM_001205293.3(CACNA1E):c.6248G>A (p.Arg2083Gln)
|
rs758936777
|
|
NM_001242896.3(DEPDC5):c.2242A>G (p.Thr748Ala)
|
|
|
NM_001242896.3(DEPDC5):c.2500C>T (p.Pro834Ser)
|
rs1370595536
|
|
NM_001257293.2(HNRNPH1):c.1117+19G>A
|
|
|
NM_001267550.2(TTN):c.97708T>C (p.Tyr32570His)
|
|
|
NM_001270.4(CHD1):c.4712C>G (p.Ser1571Cys)
|
|
|
NM_001270974.2(HYDIN):c.373A>T (p.Asn125Tyr)
|
|
|
NM_001270974.2(HYDIN):c.5152G>A (p.Val1718Met)
|
|
|
NM_001281740.3(FHOD3):c.1646+1G>A
|
rs2036163874
|
|
NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg)
|
rs1555465003
|
|
NM_001291415.2(KDM6A):c.3886C>T (p.Leu1296Phe)
|
|
|
NM_001303256.3(MORC2):c.1220G>T (p.Cys407Phe)
|
rs1555938741
|
|
NM_001308093.3(GATA4):c.623T>A (p.Met208Lys)
|
rs140892695
|
|
NM_001330700.2(TOP2B):c.3940G>C (p.Val1314Leu)
|
rs2125351347
|
|
NM_001348768.2(HECW2):c.1016T>C (p.Leu339Pro)
|
|
|
NM_001348768.2(HECW2):c.2059G>A (p.Glu687Lys)
|
rs762015382
|
|
NM_001353345.2(SETD1B):c.89G>A (p.Arg30Lys)
|
|
|
NM_001360016.2(G6PD):c.859G>A (p.Glu287Lys)
|
rs387906471
|
|
NM_001365536.1(SCN9A):c.1844A>G (p.Asn615Ser)
|
rs780995899
|
|
NM_001367721.1(CASK):c.1941G>C (p.Gln647His)
|
|
|
NM_001368809.2(AMPD2):c.2158G>T (p.Glu720Ter)
|
|
|
NM_001369268.1(ACAN):c.1817C>G (p.Ala606Gly)
|
rs757476544
|
|
NM_001369268.1(ACAN):c.5674C>T (p.Pro1892Ser)
|
|
|
NM_001371596.2(MFSD8):c.268G>C (p.Ala90Pro)
|
rs1553950970
|
|
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr)
|
rs556875684
|
|
NM_001371623.1(TCOF1):c.1340C>G (p.Pro447Arg)
|
|
|
NM_001372.4(DNAH9):c.12047A>G (p.Asn4016Ser)
|
|
|
NM_001378418.1(TCF20):c.4187G>A (p.Gly1396Glu)
|
rs774041838
|
|
NM_001378454.1(ALMS1):c.11326C>T (p.His3776Tyr)
|
rs2104107559
|
|
NM_001378457.1(DMXL2):c.2763A>T (p.Leu921Phe)
|
|
|
NM_001378457.1(DMXL2):c.6247G>A (p.Ala2083Thr)
|
rs778580507
|
|
NM_001378609.3(OTOGL):c.6161G>A (p.Cys2054Tyr)
|
rs962629988
|
|
NM_001378969.1(KCND3):c.257G>A (p.Arg86Gln)
|
rs1571941606
|
|
NM_001384140.1(PCDH15):c.1987C>G (p.Leu663Val)
|
|
|
NM_001384140.1(PCDH15):c.4671+1393G>C
|
|
|
NM_001386298.1(CIC):c.3928T>C (p.Phe1310Leu)
|
|
|
NM_001386298.1(CIC):c.4273G>A (p.Gly1425Arg)
|
|
|
NM_001386298.1(CIC):c.6484G>T (p.Ala2162Ser)
|
|
|
NM_001386393.1(PANK2):c.425T>G (p.Leu142Arg)
|
rs2146859529
|
|
NM_001386993.1(CTCFL):c.1159C>T (p.Arg387Cys)
|
|
|
NM_001388453.1(QRICH2):c.4306G>A (p.Val1436Met)
|
|
|
NM_001393769.1(MED12L):c.5867C>G (p.Pro1956Arg)
|
|
|
NM_001394372.1(BICRA):c.145C>T (p.Pro49Ser)
|
|
|
NM_001395159.1(UNC79):c.5702T>C (p.Phe1901Ser)
|
rs774688629
|
|
NM_001458.5(FLNC):c.7087G>A (p.Asp2363Asn)
|
rs1554401490
|
|
NM_001614.5(ACTG1):c.484A>G (p.Thr162Ala)
|
|
|
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)
|
rs121912938
|
|
NM_001849.4(COL6A2):c.2134G>C (p.Asp712His)
|
|
|
NM_001927.4(DES):c.1360C>T (p.Arg454Trp)
|
rs267607490
|
|
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr)
|
rs756985703
|
|
NM_002335.4(LRP5):c.4488G>A (p.Pro1496=)
|
rs1565118560
|
|
NM_002354.3(EPCAM):c.214G>A (p.Glu72Lys)
|
|
|
NM_002599.5(PDE2A):c.144+11147C>T
|
|
|
NM_002599.5(PDE2A):c.614C>T (p.Ala205Val)
|
|
|
NM_002615.7(SERPINF1):c.277T>C (p.Ser93Pro)
|
|
|
NM_002887.4(RARS1):c.1662_1663delinsTT (p.Met554_Leu555delinsIlePhe)
|
|
|
NM_002968.3(SALL1):c.1775A>G (p.Lys592Arg)
|
rs2143444520
|
|
NM_003072.5(SMARCA4):c.4904A>G (p.Gln1635Arg)
|
rs1568566518
|
|
NM_003124.5(SPR):c.57C>G (p.Phe19Leu)
|
rs774659668
|
|
NM_003322.6(TULP1):c.647C>T (p.Ala216Val)
|
rs754221623
|
|
NM_003403.5(YY1):c.430G>A (p.Asp144Asn)
|
rs770164761
|
|
NM_003579.4(RAD54L):c.1250C>T (p.Thr417Ile)
|
|
|
NM_003722.5(TP63):c.1570G>A (p.Ala524Thr)
|
rs1403304957
|
|
NM_003742.4(ABCB11):c.1361T>G (p.Val454Gly)
|
rs1558898919
|
|
NM_003742.4(ABCB11):c.1523T>C (p.Phe508Ser)
|
|
|
NM_003742.4(ABCB11):c.3557A>G (p.Glu1186Gly)
|
|
|
NM_003748.4(ALDH4A1):c.658G>C (p.Ala220Pro)
|
rs778113718
|
|
NM_003849.4(SUCLG1):c.443C>T (p.Pro148Leu)
|
rs1331661730
|
|
NM_003849.4(SUCLG1):c.512A>G (p.Asn171Ser)
|
rs765519303
|
|
NM_004370.6(COL12A1):c.1232C>A (p.Thr411Lys)
|
rs2149467046
|
|
NM_004380.3(CREBBP):c.6121T>C (p.Ser2041Pro)
|
|
|
NM_004380.3(CREBBP):c.7010C>T (p.Thr2337Met)
|
|
|
NM_004380.3(CREBBP):c.7156G>A (p.Gly2386Arg)
|
|
|
NM_004493.3(HSD17B10):c.660A>C (p.Gln220His)
|
rs1602426334
|
|
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser)
|
rs749643952
|
|
NM_004977.3(KCNC3):c.1850C>T (p.Pro617Leu)
|
rs1284948650
|
|
NM_005055.5(RAPSN):c.1045G>A (p.Val349Ile)
|
|
|
NM_005120.3(MED12):c.823C>G (p.Leu275Val)
|
rs2147778826
|
|
NM_005602.6(CLDN11):c.232G>A (p.Val78Met)
|
|
|
NM_005634.3(SOX3):c.64C>G (p.Arg22Gly)
|
|
|
NM_005778.4(RBM5):c.853A>G (p.Met285Val)
|
|
|
NM_005862.3(STAG1):c.1353A>T (p.Leu451Phe)
|
|
|
NM_006031.6(PCNT):c.5905C>T (p.Arg1969Cys)
|
|
|
NM_006129.5(BMP1):c.820C>G (p.Arg274Gly)
|
|
|
NM_006383.4(CIB2):c.9C>G (p.Asn3Lys)
|
|
|
NM_006493.4(CLN5):c.398T>G (p.Met133Arg)
|
rs1419308949
|
|
NM_006531.5(IFT88):c.1037C>T (p.Pro346Leu)
|
|
|
NM_006593.4(TBR1):c.1771G>A (p.Ala591Thr)
|
|
|
NM_006593.4(TBR1):c.284A>G (p.His95Arg)
|
rs2105278281
|
|
NM_006662.3(SRCAP):c.6710A>C (p.Gln2237Pro)
|
|
|
NM_006757.4(TNNT3):c.299G>A (p.Arg100His)
|
|
|
NM_006766.5(KAT6A):c.3670_3672del (p.Lys1224del)
|
|
|
NM_006767.4(LZTR1):c.370G>A (p.Val124Ile)
|
|
|
NM_006939.4(SOS2):c.3303T>G (p.Ser1101Arg)
|
rs1317870927
|
|
NM_006946.4(SPTBN2):c.7040G>A (p.Arg2347Gln)
|
|
|
NM_007009.3(ZPBP):c.557A>G (p.Tyr186Cys)
|
|
|
NM_007118.4(TRIO):c.3935G>A (p.Arg1312Gln)
|
|
|
NM_007118.4(TRIO):c.6968G>A (p.Gly2323Asp)
|
|
|
NM_007118.4(TRIO):c.7294_7295delinsAA (p.Ala2432Asn)
|
|
|
NM_007192.4(SUPT16H):c.2617G>A (p.Ala873Thr)
|
|
|
NM_012156.2(EPB41L1):c.1982T>C (p.Leu661Pro)
|
|
|
NM_012179.3(FBXO7):c.[274G>C];[520T>A]
|
|
|
NM_012470.4(TNPO3):c.1359-19A>G
|
|
|
NM_014112.5(TRPS1):c.2031A>C (p.Lys677Asn)
|
|
|
NM_014159.7(SETD2):c.4612T>A (p.Tyr1538Asn)
|
|
|
NM_014297.5(ETHE1):c.417T>G (p.Cys139Trp)
|
rs1472850646
|
|
NM_014712.3(SETD1A):c.1174C>A (p.Pro392Thr)
|
|
|
NM_014712.3(SETD1A):c.3752T>C (p.Val1251Ala)
|
|
|
NM_014780.5(CUL7):c.1000C>A (p.Gln334Lys)
|
rs1561894798
|
|
NM_014875.3(KIF14):c.1270T>A (p.Tyr424Asn)
|
|
|
NM_014975.3(MAST1):c.4093G>A (p.Gly1365Ser)
|
rs1231369269
|
|
NM_014991.6(WDFY3):c.9302T>G (p.Val3101Gly)
|
|
|
NM_015021.3(ZNF292):c.3830C>T (p.Ser1277Leu)
|
|
|
NM_015021.3(ZNF292):c.4457G>A (p.Gly1486Asp)
|
|
|
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser)
|
rs547495754
|
|
NM_015166.4(MLC1):c.177+5G>A
|
rs1555968723
|
|
NM_015166.4(MLC1):c.260C>T (p.Ala87Val)
|
|
|
NM_015267.4(CUX2):c.2953C>A (p.Pro985Thr)
|
|
|
NM_015559.3(SETBP1):c.3773C>T (p.Ser1258Leu)
|
|
|
NM_015978.3(TNNI3K):c.1392G>T (p.Glu464Asp)
|
|
|
NM_016151.4(TAOK2):c.492A>T (p.Leu164Phe)
|
|
|
NM_016356.5(DCDC2):c.967G>C (p.Gly323Arg)
|
rs146587418
|
|
NM_016532.4(INPP5K):c.1247G>C (p.Ser416Thr)
|
rs777736302
|
|
NM_017534.6(MYH2):c.4352del (p.Lys1451fs)
|
rs757195322
|
|
NM_017633.3(TENT5A):c.204G>T (p.Trp68Cys)
|
|
|
NM_017635.5(KMT5B):c.550A>G (p.Ile184Val)
|
|
|
NM_018116.4(MSTO1):c.725G>A (p.Gly242Asp)
|
|
|
NM_018429.3(BDP1):c.5543G>C (p.Arg1848Pro)
|
|
|
NM_019066.5(MAGEL2):c.2587C>A (p.Gln863Lys)
|
|
|
NM_019842.4(KCNQ5):c.860T>C (p.Val287Ala)
|
|
|
NM_020223.4(FAM20C):c.1680C>A (p.Cys560Ter)
|
rs371584776
|
|
NM_020366.4(RPGRIP1):c.1800_1805del (p.Ser601_Leu602del)
|
|
|
NM_020461.3(TUBGCP6):c.[3139C>T];[5140G>A]
|
|
|
NM_020461.4(TUBGCP6):c.317A>T (p.Glu106Val)
|
|
|
NM_020634.3(GDF3):c.288G>T (p.Lys96Asn)
|
|
|
NM_020791.4(TAOK1):c.2578C>T (p.Arg860Cys)
|
|
|
NM_020843.4(SCAPER):c.213T>G (p.Cys71Trp)
|
|
|
NM_020928.2(ZSWIM6):c.407G>T (p.Gly136Val)
|
rs754658198
|
|
NM_021072.4(HCN1):c.1460T>C (p.Met487Thr)
|
|
|
NM_021072.4(HCN1):c.928C>T (p.His310Tyr)
|
rs2111627182
|
|
NM_021224.6(ZNF462):c.3047G>A (p.Cys1016Tyr)
|
rs1422121486
|
|
NM_022089.4(ATP13A2):c.859G>A (p.Asp287Asn)
|
rs764560082
|
|
NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn)
|
rs1318444606
|
|
NM_022124.6(CDH23):c.9380+5G>C
|
|
|
NM_022575.4(VPS16):c.784C>T (p.Arg262Trp)
|
rs376818050
|
|
NM_022841.7(RFX7):c.671G>A (p.Arg224His)
|
|
|
NM_022893.4(BCL11A):c.515G>C (p.Cys172Ser)
|
|
|
NM_024496.4(IRF2BPL):c.2018C>G (p.Ala673Gly)
|
|
|
NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg)
|
rs1399346230
|
|
NM_024678.6(NARS2):c.892T>A (p.Cys298Ser)
|
|
|
NM_024989.4(PGAP1):c.2286+5G>A
|
rs937847069
|
|
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)
|
rs312262737
|
|
NM_025137.4(SPG11):c.442+5G>T
|
rs752482400
|
|
NM_031407.7(HUWE1):c.3080C>T (p.Pro1027Leu)
|
|
|
NM_031448.6(C19orf12):c.244C>A (p.Pro82Thr)
|
|
|
NM_031448.6(C19orf12):c.332T>C (p.Val111Ala)
|
rs1972173461
|
|
NM_031448.6(C19orf12):c.415T>C (p.Tyr139His)
|
|
|
NM_031448.6(C19orf12):c.46T>C (p.Ser16Pro)
|
rs1568332606
|
|
NM_032043.3(BRIP1):c.1897A>C (p.Ile633Leu)
|
rs765314472
|
|
NM_032217.5(ANKRD17):c.2053G>A (p.Ala685Thr)
|
|
|
NM_032217.5(ANKRD17):c.4066C>T (p.Pro1356Ser)
|
rs2148684710
|
|
NM_032806.6(POMGNT2):c.255C>G (p.Cys85Trp)
|
|
|
NM_033380.3(COL4A5):c.989A>G (p.Lys330Arg)
|
|
|
NM_130839.5(UBE3A):c.1675G>C (p.Glu559Gln)
|
rs2152730149
|
|
NM_133433.3(NIPBL):c.3856-?_4239+?del
|
|
|
NM_134261.3(RORA):c.197-26447T>C
|
rs200399670
|
|
NM_138383.3(MTSS2):c.1858G>A (p.Asp620Asn)
|
|
|
NM_138435.4(FAM83F):c.671G>A (p.Arg224His)
|
|
|
NM_138927.4(SON):c.2302A>G (p.Thr768Ala)
|
|
|
NM_152641.4(ARID2):c.1588G>T (p.Ala530Ser)
|
|
|
NM_152722.5(HEPACAM):c.769G>C (p.Val257Leu)
|
|
|
NM_153033.5(KCTD7):c.302G>A (p.Gly101Asp)
|
rs1554397831
|
|
NM_170606.3(KMT2C):c.13273G>A (p.Asp4425Asn)
|
|
|
NM_170606.3(KMT2C):c.3902C>T (p.Ser1301Phe)
|
|
|
NM_170606.3(KMT2C):c.9291G>A (p.Met3097Ile)
|
rs747180312
|
|
NM_173628.4(DNAH17):c.6389C>T (p.Ala2130Val)
|
|
|
NM_173628.4(DNAH17):c.7144G>C (p.Glu2382Gln)
|
|
|
NM_173653.4(SLC9A9):c.1380G>T (p.Met460Ile)
|
|
|
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser)
|
rs150497723
|
|
NM_175914.5(HNF4A):c.128A>G (p.Asp43Gly)
|
|
|
NM_178012.5(TUBB2B):c.767A>G (p.Asn256Ser)
|
rs397514568
|
|
NM_178424.2(SOX30):c.2234A>T (p.Glu745Val)
|
|
|
NM_181882.3(PRX):c.4243G>A (p.Val1415Met)
|
rs201222650
|
|
NM_183357.3(ADCY5):c.225CGA[4] (p.Asp80del)
|
rs754577305
|
|
NM_194279.4(ISCA2):c.314G>T (p.Arg105Ile)
|
|
|
NM_194454.3(KRIT1):c.492A>T (p.Leu164Phe)
|
rs2131664007
|
|
NM_198880.3(QRICH1):c.598G>A (p.Val200Met)
|
|
|
NM_201384.3(PLEC):c.7895C>T (p.Ala2632Val)
|
|
|
NM_203290.4(POLR1C):c.883A>G (p.Lys295Glu)
|
|
|
NM_206933.4(USH2A):c.14683A>G (p.Ser4895Gly)
|
rs1469032409
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
NM_212482.4(FN1):c.338A>G (p.Glu113Gly)
|
|
|