NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_080425.4(GNAS):c.1455C>A (p.Ala485=)
|
rs55890501
|
0.00388
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_001292063.2(OTOG):c.899A>G (p.His300Arg)
|
rs189159426
|
0.00243
|
NM_001001548.3(CD36):c.429+2T>C
|
rs3211893
|
0.00220
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_001292063.2(OTOG):c.5345T>C (p.Leu1782Pro)
|
rs61744602
|
0.00187
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe)
|
rs2920791
|
0.00174
|
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)
|
rs116840776
|
0.00164
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs11394094
|
0.00159
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr)
|
rs139852818
|
0.00137
|
NM_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00131
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu)
|
rs104893941
|
0.00129
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
NM_144672.4(OTOA):c.1523T>C (p.Val508Ala)
|
rs138141474
|
0.00099
|
NM_000552.5(VWF):c.1922C>T (p.Ala641Val)
|
rs61754019
|
0.00098
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00087
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_007055.4(POLR3A):c.3436G>A (p.Ala1146Thr)
|
rs41274600
|
0.00083
|
NM_031475.3(ESPN):c.1048C>T (p.Pro350Ser)
|
rs115143295
|
0.00081
|
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp)
|
rs114368325
|
0.00079
|
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met)
|
rs557989446
|
0.00078
|
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)
|
rs5030764
|
0.00076
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_001128228.3(TPRN):c.2023G>A (p.Ala675Thr)
|
rs139520402
|
0.00070
|
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser)
|
rs186893662
|
0.00070
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val)
|
rs142768885
|
0.00068
|
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter)
|
rs146451547
|
0.00068
|
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg)
|
rs139279977
|
0.00067
|
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr)
|
rs78165611
|
0.00065
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys)
|
rs146924860
|
0.00060
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)
|
rs201431517
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys)
|
rs61757664
|
0.00055
|
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp)
|
rs146655362
|
0.00053
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys)
|
rs147854826
|
0.00047
|
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)
|
rs727504718
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_003235.5(TG):c.886C>T (p.Arg296Ter)
|
rs121912648
|
0.00041
|
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys)
|
rs370053399
|
0.00041
|
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)
|
rs554847663
|
0.00040
|
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr)
|
rs141596008
|
0.00040
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_001145809.2(MYH14):c.3850C>T (p.Arg1284Trp)
|
rs201515738
|
0.00037
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00037
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr)
|
rs139965373
|
0.00035
|
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=)
|
rs41276445
|
0.00034
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys)
|
rs368682932
|
0.00033
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_017433.5(MYO3A):c.2275A>T (p.Asn759Tyr)
|
rs201033926
|
0.00030
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln)
|
rs146651027
|
0.00029
|
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln)
|
rs372768607
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_194248.3(OTOF):c.154G>A (p.Val52Met)
|
rs199992845
|
0.00026
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_001292063.2(OTOG):c.1840C>T (p.Arg614Trp)
|
rs201183725
|
0.00025
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs)
|
rs587776588
|
0.00018
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser)
|
rs730880182
|
0.00016
|
NM_005006.7(NDUFS1):c.908C>G (p.Thr303Ser)
|
rs75666426
|
0.00016
|
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu)
|
rs28940574
|
0.00015
|
NM_001267550.2(TTN):c.98960C>T (p.Ser32987Phe)
|
rs746380940
|
0.00015
|
NM_016239.4(MYO15A):c.7367C>G (p.Ala2456Gly)
|
rs199953758
|
0.00015
|
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)
|
rs104893924
|
0.00014
|
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)
|
rs140012781
|
0.00014
|
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)
|
rs145078268
|
0.00013
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln)
|
rs542708170
|
0.00013
|
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val)
|
rs199537178
|
0.00013
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr)
|
rs367863299
|
0.00013
|
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)
|
rs727504460
|
0.00013
|
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)
|
rs191905539
|
0.00012
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00012
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser)
|
rs139199018
|
0.00011
|
NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn)
|
rs148920964
|
0.00011
|
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp)
|
rs773551819
|
0.00011
|
NM_020549.5(CHAT):c.1382T>C (p.Val461Ala)
|
rs918273981
|
0.00011
|
NM_000744.7(CHRNA4):c.1316A>C (p.Lys439Thr)
|
rs796052318
|
0.00009
|
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser)
|
rs29372
|
0.00009
|
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys)
|
rs374682077
|
0.00009
|
NM_004646.4(NPHS1):c.2335-1G>A
|
rs150038620
|
0.00009
|
NM_015311.3(OBSL1):c.1273dup (p.Thr425fs)
|
rs762334954
|
0.00009
|
NM_015937.6(PIGT):c.634C>T (p.His212Tyr)
|
rs574183358
|
0.00009
|
NM_031471.6(FERMT3):c.86C>T (p.Ala29Val)
|
rs144256756
|
0.00009
|
NM_000090.4(COL3A1):c.2242G>A (p.Gly748Ser)
|
rs771585795
|
0.00008
|
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)
|
rs202114767
|
0.00008
|
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe)
|
rs13306411
|
0.00007
|
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr)
|
rs142302070
|
0.00007
|
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter)
|
rs267606640
|
0.00006
|
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu)
|
rs755485250
|
0.00006
|
NM_001384474.1(LOXHD1):c.5740G>A (p.Gly1914Arg)
|
rs727504988
|
0.00006
|
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)
|
rs201847956
|
0.00006
|
NM_005751.5(AKAP9):c.4189C>G (p.Gln1397Glu)
|
rs749340561
|
0.00006
|
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr)
|
rs138771366
|
0.00006
|
NM_012452.3(TNFRSF13B):c.492C>G (p.Tyr164Ter)
|
rs72553882
|
0.00006
|
NM_016239.4(MYO15A):c.4848C>G (p.Phe1616Leu)
|
rs368430972
|
0.00006
|
NM_016239.4(MYO15A):c.8714-1G>A
|
rs377015931
|
0.00006
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
NM_001292063.2(OTOG):c.6967C>T (p.Arg2323Trp)
|
rs755149839
|
0.00005
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00005
|
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)
|
rs80356701
|
0.00004
|
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val)
|
rs397516138
|
0.00004
|
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00004
|
NM_001001548.3(CD36):c.1254+1G>A
|
rs148051111
|
0.00004
|
NM_001267550.2(TTN):c.40558+1G>A
|
rs368219776
|
0.00004
|
NM_001292063.2(OTOG):c.916G>A (p.Ala306Thr)
|
rs553079779
|
0.00004
|
NM_001384474.1(LOXHD1):c.3962G>C (p.Gly1321Ala)
|
rs573953982
|
0.00004
|
NM_015175.3(NBEAL2):c.1976G>A (p.Arg659Gln)
|
rs567205565
|
0.00004
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
0.00003
|
NM_001145809.2(MYH14):c.3629G>A (p.Arg1210Gln)
|
rs794729639
|
0.00003
|
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232
|
0.00003
|
NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)
|
rs727503236
|
0.00003
|
NM_004999.4(MYO6):c.2716T>C (p.Ser906Pro)
|
rs727505048
|
0.00003
|
NM_014000.3(VCL):c.1040C>T (p.Pro347Leu)
|
rs148619523
|
0.00003
|
NM_015158.5(KANK1):c.2933T>C (p.Met978Thr)
|
rs753441206
|
0.00003
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
NM_000303.3(PMM2):c.255+1G>A
|
rs1060499598
|
0.00002
|
NM_000539.3(RHO):c.491C>T (p.Ala164Val)
|
rs104893793
|
0.00002
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
NM_001128126.3(AP4S1):c.138+2T>G
|
rs377679827
|
0.00002
|
NM_001377304.1(GFI1B):c.568C>T (p.Arg190Trp)
|
rs144046935
|
0.00002
|
NM_001943.5(DSG2):c.527C>T (p.Thr176Ile)
|
rs536617217
|
0.00002
|
NM_002700.3(POU4F3):c.403C>T (p.Pro135Ser)
|
rs200286254
|
0.00002
|
NM_003098.3(SNTA1):c.1204C>T (p.Arg402Trp)
|
rs373387978
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_014000.3(VCL):c.158A>G (p.Asn53Ser)
|
rs751938777
|
0.00002
|
NM_017514.5(PLXNA3):c.214G>A (p.Glu72Lys)
|
rs149367480
|
0.00002
|
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)
|
rs771028960
|
0.00002
|
NM_058216.3(RAD51C):c.706-2A>G
|
rs587780259
|
0.00002
|
NM_138691.3(TMC1):c.624C>A (p.Ser208Arg)
|
rs781747541
|
0.00002
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His)
|
rs61754278
|
0.00001
|
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)
|
rs199473428
|
0.00001
|
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)
|
rs62508736
|
0.00001
|
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys)
|
rs137854601
|
0.00001
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
NM_000404.4(GLB1):c.245+1G>A
|
rs778423653
|
0.00001
|
NM_000419.5(ITGA2B):c.1043G>A (p.Arg348Gln)
|
rs1060499614
|
0.00001
|
NM_000552.5(VWF):c.2570A>G (p.Asn857Ser)
|
rs765163545
|
0.00001
|
NM_000642.3(AGL):c.664+3A>G
|
rs370792293
|
0.00001
|
NM_001038603.3(MARVELD2):c.1660G>A (p.Val554Ile)
|
rs199708957
|
0.00001
|
NM_001128228.3(TPRN):c.2057C>T (p.Pro686Leu)
|
rs727503520
|
0.00001
|
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)
|
rs771663107
|
0.00001
|
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)
|
rs886042922
|
0.00001
|
NM_002474.3(MYH11):c.5213T>C (p.Ile1738Thr)
|
rs794729642
|
0.00001
|
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)
|
rs1060499579
|
0.00001
|
NM_005422.4(TECTA):c.4384C>T (p.Arg1462Cys)
|
rs727503462
|
0.00001
|
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter)
|
rs119103255
|
0.00001
|
NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp)
|
rs372650987
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_014251.3(SLC25A13):c.468+1G>C
|
rs1060499612
|
0.00001
|
NM_016239.4(MYO15A):c.1721G>C (p.Arg574Pro)
|
rs964336018
|
0.00001
|
NM_017636.4(TRPM4):c.379G>A (p.Gly127Ser)
|
rs368769982
|
0.00001
|
NM_018297.4(NGLY1):c.596C>T (p.Pro199Leu)
|
rs760530009
|
0.00001
|
NM_018451.5(CENPJ):c.3367-1G>A
|
rs763715733
|
0.00001
|
NM_020806.5(GPHN):c.1831G>A (p.Glu611Lys)
|
rs1060499577
|
0.00001
|
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln)
|
rs727502932
|
0.00001
|
NM_022124.6(CDH23):c.8248G>A (p.Val2750Met)
|
rs752930006
|
0.00001
|
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val)
|
rs757043077
|
0.00001
|
NM_080425.4(GNAS):c.1200C>A (p.Ala400=)
|
rs908810796
|
0.00001
|
NM_144573.4(NEXN):c.1687G>T (p.Gly563Cys)
|
rs1060499571
|
0.00001
|
NM_144573.4(NEXN):c.671G>A (p.Cys224Tyr)
|
rs886046534
|
0.00001
|
NM_201596.3(CACNB2):c.1828C>T (p.Arg610Trp)
|
rs545095722
|
0.00001
|
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met)
|
rs397518035
|
0.00001
|
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs)
|
rs1060499596
|
|
NM_000038.6(APC):c.904C>T (p.Arg302Ter)
|
rs137854568
|
|
NM_000051.4(ATM):c.790del (p.Tyr264fs)
|
rs587781978
|
|
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)
|
rs864622389
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs)
|
rs1060499593
|
|
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs)
|
rs757688782
|
|
NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter)
|
rs1060499582
|
|
NM_000104.4(CYP1B1):c.1063_1075del (p.Arg355fs)
|
rs1064792896
|
|
NM_000136.3(FANCC):c.356_360del (p.Ser119fs)
|
rs1060499606
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)
|
rs139042529
|
|
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)
|
rs63750610
|
|
NM_000256.3(MYBPC3):c.2148+1G>T
|
rs1060499604
|
|
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)
|
rs786204455
|
|
NM_000335.5(SCN5A):c.4434+5G>A
|
rs1057520531
|
|
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)
|
rs137854613
|
|
NM_000335.5(SCN5A):c.4937T>C (p.Leu1646Pro)
|
rs1060499611
|
|
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)
|
rs137853097
|
|
NM_000466.3(PEX1):c.3379dup (p.Arg1127fs)
|
rs794729652
|
|
NM_000487.6(ARSA):c.1472G>A (p.Cys491Tyr)
|
rs1060499585
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter)
|
rs1060499603
|
|
NM_000520.6(HEXA):c.1275_1278dup (p.Tyr427fs)
|
rs1555472406
|
|
NM_000527.5(LDLR):c.557del (p.Gly186fs)
|
rs879254573
|
|
NM_000601.6(HGF):c.983G>T (p.Arg328Leu)
|
rs374484762
|
|
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)
|
rs771961377
|
|
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp)
|
rs386834264
|
|
NM_001001548.3(CD36):c.701_701+3dup
|
rs1554343345
|
|
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter)
|
rs797046101
|
|
NM_001032283.3(TMPO):c.565+1717G>C
|
rs1060499573
|
|
NM_001035.3(RYR2):c.2306G>T (p.Arg769Leu)
|
rs754901791
|
|
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly)
|
rs794728706
|
|
NM_001035.3(RYR2):c.724G>A (p.Asp242Asn)
|
rs1060499569
|
|
NM_001048174.2(MUTYH):c.1145_1146dup (p.Pro383fs)
|
rs1553125914
|
|
NM_001098671.2(RASGRP2):c.1480dup (p.Arg494fs)
|
rs1555122100
|
|
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser)
|
rs1060499609
|
|
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter)
|
rs1060499576
|
|
NM_001101.5(ACTB):c.123+1G>A
|
rs794729643
|
|
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)
|
rs796052492
|
|
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile)
|
rs727503492
|
|
NM_001267550.2(TTN):c.89221dup (p.Ile29741fs)
|
rs1553543413
|
|
NM_001273.5(CHD4):c.3745T>G (p.Tyr1249Asp)
|
rs1060499583
|
|
NM_001292063.2(OTOG):c.4841C>T (p.Pro1614Leu)
|
rs897939885
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001372044.2(SHANK3):c.1040A>G (p.Tyr347Cys)
|
rs1555905749
|
|
NM_001372044.2(SHANK3):c.542A>C (p.Gln181Pro)
|
rs1555905307
|
|
NM_001376.5(DYNC1H1):c.12332A>G (p.Lys4111Arg)
|
rs1060499574
|
|
NM_001378454.1(ALMS1):c.5368G>A (p.Gly1790Arg)
|
rs1060499580
|
|
NM_001384140.1(PCDH15):c.3857T>A (p.Val1286Glu)
|
rs375292203
|
|
NM_001384474.1(LOXHD1):c.5115_5127dup (p.Glu1710fs)
|
rs1555669048
|
|
NM_001451.3(FOXF1):c.266A>G (p.Tyr89Cys)
|
rs1969550367
|
|
NM_001451.3(FOXF1):c.286G>T (p.Val96Leu)
|
rs1969550532
|
|
NM_001451.3(FOXF1):c.965del (p.Pro322fs)
|
rs1969566429
|
|
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly)
|
rs727504862
|
|
NM_001754.5(RUNX1):c.1294T>C (p.Cys432Arg)
|
rs1060499613
|
|
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln)
|
rs1060499616
|
|
NM_001875.5(CPS1):c.209_216dup (p.Phe73fs)
|
rs1553509010
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002016.2(FLG):c.899_903del (p.Asp300fs)
|
rs1060499587
|
|
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)
|
rs121913657
|
|
NM_003764.4(STX11):c.391C>T (p.Gln131Ter)
|
rs794729649
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe)
|
rs121908932
|
|
NM_004247.4(EFTUD2):c.764dup (p.Cys256fs)
|
rs794729651
|
|
NM_004369.4(COL6A3):c.7669-2del
|
rs764193290
|
|
NM_004415.4(DSP):c.274-3C>G
|
rs794729638
|
|
NM_004415.4(DSP):c.928dup (p.Glu310fs)
|
rs794728137
|
|
NM_004493.3(HSD17B10):c.218C>G (p.Thr73Arg)
|
rs794729644
|
|
NM_004606.5(TAF1):c.4427A>C (p.Asp1476Ala)
|
rs1060499594
|
|
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr)
|
rs1060499592
|
|
NM_004975.4(KCNB1):c.605C>T (p.Ser202Phe)
|
rs1060499607
|
|
NM_005247.4(FGF3):c.270dup (p.Leu91fs)
|
rs1554981083
|
|
NM_005422.4(TECTA):c.3854G>C (p.Cys1285Ser)
|
rs1060499597
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005654.6(NR2F1):c.1217T>C (p.Met406Thr)
|
rs1060499589
|
|
NM_005982.4(SIX1):c.460A>T (p.Lys154Ter)
|
rs1060499595
|
|
NM_007129.5(ZIC2):c.1245T>G (p.His415Gln)
|
rs794729641
|
|
NM_012434.5(SLC17A5):c.409del (p.Met137fs)
|
rs794729653
|
|
NM_014332.3(SMPX):c.133-1G>A
|
rs1060499590
|
|
NM_015404.4(WHRN):c.2569C>T (p.Gln857Ter)
|
rs727504817
|
|
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter)
|
rs1553162786
|
|
NM_016219.5(MAN1B1):c.1276_1277del (p.Gln426fs)
|
rs794729645
|
|
NM_016239.4(MYO15A):c.3311dup (p.Gly1104_Glu1105insTer)
|
rs794729637
|
|
NM_016239.4(MYO15A):c.5055dup (p.Asn1686fs)
|
rs1555543836
|
|
NM_016239.4(MYO15A):c.625G>T (p.Glu209Ter)
|
rs571594379
|
|
NM_022336.4(EDAR):c.284del (p.Gly95fs)
|
rs1060499610
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_025216.3(WNT10A):c.616C>T (p.Gln206Ter)
|
rs1060499588
|
|
NM_030632.3(ASXL3):c.1471C>T (p.Gln491Ter)
|
rs1060499602
|
|
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs)
|
rs794729648
|
|
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs)
|
rs772940104
|
|
NM_032193.4(RNASEH2C):c.434G>C (p.Arg145Pro)
|
rs774773395
|
|
NM_032578.4(MYPN):c.3170G>A (p.Arg1057Gln)
|
rs150414382
|
|
NM_032793.5(MFSD2A):c.661G>A (p.Val221Ile)
|
rs1060499570
|
|
NM_138691.3(TMC1):c.938T>C (p.Phe313Ser)
|
rs1060499599
|
|
NM_152443.3(RDH12):c.63_66del (p.Ile22fs)
|
rs794729650
|
|
NM_153700.2(STRC):c.4701+1G>A
|
rs199839039
|
|
NM_153700.2(STRC):c.4917_4918delinsCT (p.Leu1640Phe)
|
rs727503441
|
|
NM_173495.3(PTCHD1):c.907G>A (p.Gly303Arg)
|
rs1060499615
|
|
NM_183235.3(RAB27A):c.514_518del (p.Gln172fs)
|
rs767481076
|
|
NM_194248.3(OTOF):c.2034_2042dup (p.676_678AGD[3])
|
rs794729640
|
|
NM_194248.3(OTOF):c.5938G>T (p.Ala1980Ser)
|
rs62640381
|
|
NM_201384.3(PLEC):c.1060C>T (p.Gln354Ter)
|
rs1060499581
|
|
Single allele
|
|
|