NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00049
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter)
|
rs202210819
|
0.00032
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00031
|
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)
|
rs200691042
|
0.00030
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_016146.6(TRAPPC4):c.454+3A>G
|
rs375776811
|
0.00025
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)
|
rs137852672
|
0.00022
|
NM_001142800.2(EYS):c.3443+1G>T
|
rs373441420
|
0.00022
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00019
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000156.6(GAMT):c.327G>A (p.Lys109=)
|
rs80338735
|
0.00017
|
NM_006214.4(PHYH):c.135-2A>G
|
rs201578674
|
0.00017
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00015
|
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter)
|
rs13447324
|
0.00013
|
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)
|
rs119473033
|
0.00013
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)
|
rs364897
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_000540.3(RYR1):c.10348-6C>G
|
rs193922837
|
0.00010
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)
|
rs267606919
|
0.00010
|
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021
|
0.00010
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter)
|
rs137853907
|
0.00009
|
NM_006767.4(LZTR1):c.1943-256C>T
|
rs761685529
|
0.00009
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
|
rs199801029
|
0.00008
|
NM_001142800.2(EYS):c.5928-2A>G
|
rs181169439
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
|
rs104894178
|
0.00007
|
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)
|
rs104894471
|
0.00007
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00006
|
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)
|
rs121434548
|
0.00006
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
NM_000156.6(GAMT):c.133T>A (p.Trp45Arg)
|
rs886054247
|
0.00006
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00006
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000157.4(GBA1):c.84dup (p.Leu29fs)
|
rs387906315
|
0.00006
|
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)
|
rs137852888
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter)
|
rs121918579
|
0.00006
|
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)
|
rs137852696
|
0.00006
|
NM_000310.4(PPT1):c.541G>A (p.Val181Met)
|
rs148412181
|
0.00006
|
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)
|
rs144467873
|
0.00006
|
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)
|
rs137853190
|
0.00006
|
NM_001267550.2(TTN):c.39974-11T>G
|
rs758597536
|
0.00006
|
NM_001371904.1(APOA5):c.289C>T (p.Gln97Ter)
|
rs201079485
|
0.00006
|
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)
|
rs139675596
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
NM_006343.3(MERTK):c.1296+1G>A
|
rs774577413
|
0.00006
|
NM_006642.5(SDCCAG8):c.740+356C>T
|
rs397515337
|
0.00006
|
NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter)
|
rs730882150
|
0.00006
|
NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln)
|
rs121908185
|
0.00006
|
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)
|
rs62638179
|
0.00006
|
NM_152906.7(TANGO2):c.262C>T (p.Arg88Ter)
|
rs140115503
|
0.00006
|
NM_152906.7(TANGO2):c.94C>T (p.Arg32Ter)
|
rs199801224
|
0.00006
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter)
|
rs201157731
|
0.00005
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)
|
rs769479800
|
0.00004
|
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)
|
rs770610356
|
0.00004
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer)
|
rs781088002
|
0.00004
|
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)
|
rs28940868
|
0.00004
|
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)
|
rs78973108
|
0.00004
|
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)
|
rs121965031
|
0.00004
|
NM_000303.3(PMM2):c.691G>A (p.Val231Met)
|
rs80338707
|
0.00004
|
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)
|
rs61748550
|
0.00004
|
NM_000352.6(ABCC8):c.2041-21G>A
|
rs746714109
|
0.00004
|
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)
|
rs200670692
|
0.00004
|
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)
|
rs756564767
|
0.00004
|
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
|
rs182812968
|
0.00004
|
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)
|
rs727504166
|
0.00004
|
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)
|
rs1057517195
|
0.00004
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
NM_001164508.2(NEB):c.21417+3A>G
|
rs148950085
|
0.00004
|
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs)
|
rs387906312
|
0.00004
|
NM_006269.2(RP1):c.1625C>G (p.Ser542Ter)
|
rs779334655
|
0.00004
|
NM_006343.3(MERTK):c.2164C>T (p.Arg722Ter)
|
rs541717028
|
0.00004
|
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter)
|
rs148932047
|
0.00004
|
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg)
|
rs149614625
|
0.00004
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
NM_033100.4(CDHR1):c.295del (p.Glu99fs)
|
rs867166472
|
0.00004
|
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)
|
rs62636273
|
0.00004
|
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)
|
rs760768475
|
0.00003
|
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp)
|
rs776948121
|
0.00003
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
NM_000156.6(GAMT):c.522G>A (p.Trp174Ter)
|
rs370421531
|
0.00003
|
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)
|
rs758447515
|
0.00003
|
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp)
|
rs439898
|
0.00003
|
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)
|
rs61748906
|
0.00003
|
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter)
|
rs538274657
|
0.00003
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000203.5(IDUA):c.1614del (p.His539fs)
|
rs727503967
|
0.00003
|
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter)
|
rs373037737
|
0.00003
|
NM_000352.6(ABCC8):c.2921-9G>A
|
rs757171524
|
0.00003
|
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)
|
rs72547571
|
0.00003
|
NM_000440.3(PDE6A):c.998+1G>A
|
rs748946491
|
0.00003
|
NM_000540.3(RYR1):c.1589G>A (p.Arg530His)
|
rs111888148
|
0.00003
|
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser)
|
rs587779408
|
0.00003
|
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter)
|
rs758944159
|
0.00003
|
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)
|
rs752953889
|
0.00003
|
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)
|
rs754272530
|
0.00003
|
NM_001849.4(COL6A2):c.1461del (p.Ser488fs)
|
rs398123645
|
0.00003
|
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)
|
rs397507525
|
0.00003
|
NM_002887.4(RARS1):c.5A>G (p.Asp2Gly)
|
rs672601372
|
0.00003
|
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)
|
rs121908687
|
0.00003
|
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)
|
rs386834019
|
0.00003
|
NM_018082.6(POLR3B):c.1018C>T (p.Arg340Ter)
|
rs148879912
|
0.00003
|
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter)
|
rs267608688
|
0.00003
|
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala)
|
rs121908179
|
0.00003
|
NM_152443.3(RDH12):c.146C>T (p.Thr49Met)
|
rs28940314
|
0.00003
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
NM_201548.5(CERKL):c.598A>T (p.Lys200Ter)
|
rs398122963
|
0.00003
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
NM_000152.5(GAA):c.1076-22T>G
|
rs762260678
|
0.00002
|
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg)
|
rs772883420
|
0.00002
|
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys)
|
rs764670084
|
0.00002
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln)
|
rs778418246
|
0.00002
|
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)
|
rs774144200
|
0.00002
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00002
|
NM_000169.3(GLA):c.335G>A (p.Arg112His)
|
rs372966991
|
0.00002
|
NM_000195.5(HPS1):c.355del (p.His119fs)
|
rs281865075
|
0.00002
|
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)
|
rs148789453
|
0.00002
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
0.00002
|
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)
|
rs145961131
|
0.00002
|
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)
|
rs139328569
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_000352.6(ABCC8):c.4308-2A>G
|
rs886041391
|
0.00002
|
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)
|
rs72547568
|
0.00002
|
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys)
|
rs372287825
|
0.00002
|
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu)
|
rs753508874
|
0.00002
|
NM_000543.5(SMPD1):c.757G>C (p.Asp253His)
|
rs398123479
|
0.00002
|
NM_001205254.2(OCLN):c.1037+1G>A
|
rs748442113
|
0.00002
|
NM_001244710.2(GFPT1):c.686-2A>G
|
rs1011196447
|
0.00002
|
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)
|
rs397517776
|
0.00002
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
NM_006269.2(RP1):c.5962dup (p.Ile1988fs)
|
rs769512989
|
0.00002
|
NM_007055.4(POLR3A):c.3243-2A>G
|
rs1462460124
|
0.00002
|
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)
|
rs190057175
|
0.00002
|
NM_020451.3(SELENON):c.1315C>T (p.Arg439Ter)
|
rs377215510
|
0.00002
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser)
|
rs781565158
|
0.00002
|
NM_033100.4(CDHR1):c.524dup (p.Asn176fs)
|
rs781781440
|
0.00002
|
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter)
|
rs760752847
|
0.00002
|
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)
|
rs397517979
|
0.00002
|
NC_000022.10:g.38522454delG
|
rs587784329
|
0.00001
|
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter)
|
rs80358972
|
0.00001
|
NM_000070.3(CAPN3):c.1194-9A>G
|
rs374665929
|
0.00001
|
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)
|
rs776043976
|
0.00001
|
NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)
|
rs863224956
|
0.00001
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
NM_000083.3(CLCN1):c.1471+1G>A
|
rs375596425
|
0.00001
|
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro)
|
rs766074609
|
0.00001
|
NM_000152.5(GAA):c.118C>T (p.Arg40Ter)
|
rs767409395
|
0.00001
|
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)
|
rs141533320
|
0.00001
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
NM_000152.5(GAA):c.1441del (p.Trp481fs)
|
rs1403500889
|
0.00001
|
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)
|
rs121907937
|
0.00001
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter)
|
rs749529161
|
0.00001
|
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter)
|
rs786204727
|
0.00001
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser)
|
rs536906561
|
0.00001
|
NM_000152.5(GAA):c.2040+1G>T
|
rs1057516928
|
0.00001
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.2331+2T>A
|
rs1057517148
|
0.00001
|
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)
|
rs369532274
|
0.00001
|
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter)
|
rs765718882
|
0.00001
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
NM_000156.6(GAMT):c.145del (p.Tyr49fs)
|
rs1384688313
|
0.00001
|
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)
|
rs76539814
|
0.00001
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
NM_000157.4(GBA1):c.1505G>A (p.Arg502His)
|
rs80356772
|
0.00001
|
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys)
|
rs747506979
|
0.00001
|
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)
|
rs1141814
|
0.00001
|
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)
|
rs79653797
|
0.00001
|
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys)
|
rs398123532
|
0.00001
|
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)
|
rs1064644
|
0.00001
|
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)
|
rs381737
|
0.00001
|
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)
|
rs74500255
|
0.00001
|
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter)
|
rs137852894
|
0.00001
|
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter)
|
rs766935302
|
0.00001
|
NM_000169.3(GLA):c.644A>G (p.Asn215Ser)
|
rs28935197
|
0.00001
|
NM_000195.5(HPS1):c.1315C>T (p.Arg439Ter)
|
rs1185127836
|
0.00001
|
NM_000195.5(HPS1):c.1807C>T (p.Gln603Ter)
|
rs886077189
|
0.00001
|
NM_000195.5(HPS1):c.1858-1G>A
|
rs758797992
|
0.00001
|
NM_000195.5(HPS1):c.391C>T (p.Arg131Ter)
|
rs281865076
|
0.00001
|
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg)
|
rs772416503
|
0.00001
|
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)
|
rs794726877
|
0.00001
|
NM_000203.5(IDUA):c.158+1G>A
|
rs1264013707
|
0.00001
|
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)
|
rs758452450
|
0.00001
|
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)
|
rs121965029
|
0.00001
|
NM_000203.5(IDUA):c.386-2A>G
|
rs777295041
|
0.00001
|
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)
|
rs869025584
|
0.00001
|
NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter)
|
rs772057239
|
0.00001
|
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter)
|
rs386833649
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)
|
rs61750571
|
0.00001
|
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
NM_000350.3(ABCA4):c.6386+2C>G
|
rs61753043
|
0.00001
|
NM_000352.6(ABCC8):c.1176+2T>C
|
rs750586210
|
0.00001
|
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter)
|
rs768951263
|
0.00001
|
NM_000352.6(ABCC8):c.1630+1G>T
|
rs773306994
|
0.00001
|
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
|
rs72559734
|
0.00001
|
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter)
|
rs1484689392
|
0.00001
|
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)
|
rs761749884
|
0.00001
|
NM_000352.6(ABCC8):c.3868-1G>A
|
rs766431403
|
0.00001
|
NM_000352.6(ABCC8):c.3988+2T>C
|
rs745349258
|
0.00001
|
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)
|
rs72559716
|
0.00001
|
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)
|
rs28936371
|
0.00001
|
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)
|
rs72559730
|
0.00001
|
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)
|
rs74315472
|
0.00001
|
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)
|
rs121908033
|
0.00001
|
NM_000539.3(RHO):c.936+1G>T
|
rs776014770
|
0.00001
|
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)
|
rs120074126
|
0.00001
|
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser)
|
rs120074119
|
0.00001
|
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)
|
rs370129081
|
0.00001
|
NM_000543.5(SMPD1):c.573del (p.Ser192fs)
|
rs727504167
|
0.00001
|
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)
|
rs989639224
|
0.00001
|
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)
|
rs120074128
|
0.00001
|
NM_001029883.3(PCARE):c.958del (p.Arg320fs)
|
rs1558490060
|
0.00001
|
NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter)
|
rs151017794
|
0.00001
|
NM_001126108.2(SLC12A3):c.1180+1G>T
|
rs749098014
|
0.00001
|
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter)
|
rs267606641
|
0.00001
|
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter)
|
rs1177052380
|
0.00001
|
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)
|
rs1060499783
|
0.00001
|
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)
|
rs748922882
|
0.00001
|
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)
|
rs1009131948
|
0.00001
|
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)
|
rs757082154
|
0.00001
|
NM_001378.3(DYNC1I2):c.740A>G (p.Tyr247Cys)
|
rs752940799
|
0.00001
|
NM_001378454.1(ALMS1):c.11648_11649insGTTA (p.Asn3884fs)
|
rs760264695
|
0.00001
|
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs)
|
rs781148814
|
0.00001
|
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)
|
rs1057516342
|
0.00001
|
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)
|
rs754391973
|
0.00001
|
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)
|
rs773404494
|
0.00001
|
NM_001384140.1(PCDH15):c.3983+1G>T
|
rs758921360
|
0.00001
|
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)
|
rs137853003
|
0.00001
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
NM_001395891.1(CLASP1):c.196-571C>T
|
rs765906028
|
0.00001
|
NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter)
|
rs398122382
|
0.00001
|
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=)
|
rs368497893
|
0.00001
|
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter)
|
rs200075782
|
0.00001
|
NM_003560.4(PLA2G6):c.1427+1G>A
|
rs750939090
|
0.00001
|
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter)
|
rs587784339
|
0.00001
|
NM_005529.7(HSPG2):c.8316+1G>A
|
rs927473035
|
0.00001
|
NM_005677.4(COLQ):c.219+1G>C
|
rs149020371
|
0.00001
|
NM_006343.3(MERTK):c.1951C>T (p.Arg651Ter)
|
rs119489105
|
0.00001
|
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter)
|
rs774007232
|
0.00001
|
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter)
|
rs755978559
|
0.00001
|
NM_007055.4(POLR3A):c.601del (p.Ile201fs)
|
rs777280350
|
0.00001
|
NM_007055.4(POLR3A):c.91C>T (p.Gln31Ter)
|
rs546487084
|
0.00001
|
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)
|
rs111033570
|
0.00001
|
NM_013328.4(PYCR2):c.796C>T (p.Arg266Ter)
|
rs886037931
|
0.00001
|
NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter)
|
rs74315343
|
0.00001
|
NM_016580.4(PCDH12):c.451C>T (p.Arg151Ter)
|
rs1175979418
|
0.00001
|
NM_017739.4(POMGNT1):c.1738C>T (p.Arg580Ter)
|
rs386834018
|
0.00001
|
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)
|
rs386834034
|
0.00001
|
NM_018082.6(POLR3B):c.2570+1G>A
|
rs753943393
|
0.00001
|
NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter)
|
rs772050241
|
0.00001
|
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)
|
rs778603129
|
0.00001
|
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter)
|
rs1160669210
|
0.00001
|
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter)
|
rs312262728
|
0.00001
|
NM_033453.4(ITPA):c.264-1G>A
|
rs781254071
|
0.00001
|
NM_138422.4(ADAT3):c.430G>A (p.Val144Met)
|
rs730882213
|
0.00001
|
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter)
|
rs765251347
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_153240.5(NPHP3):c.1174C>T (p.Arg392Ter)
|
rs1485445500
|
0.00001
|
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)
|
rs775883520
|
0.00001
|
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer)
|
rs774694340
|
0.00001
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
NM_201548.5(CERKL):c.780del (p.Pro261fs)
|
rs398122964
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857)
|
|
|
GRCh38/hg38 10q23.33(chr10:94131004-94133482)x0
|
|
|
GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1
|
|
|
GRCh38/hg38 11q22.3(chr11:108358364-108376364)x0
|
|
|
GRCh38/hg38 13q12.12(chr13:23315907-23322480)x0
|
|
|
GRCh38/hg38 13q12.12(chr13:23320540-23320858)x0
|
|
|
GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1
|
|
|
GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1
|
|
|
GRCh38/hg38 14q12(chr14:28766690-29666306)x1
|
|
|
GRCh38/hg38 14q22.2-22.3(chr14:53949639-56297420)x1
|
|
|
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1
|
|
|
GRCh38/hg38 15q11.2(chr15:25354042-25357067)x1
|
|
|
GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1
|
|
|
GRCh38/hg38 15q15.1(chr15:42349336-42378932)x1
|
|
|
GRCh38/hg38 15q21.2(chr15:50923067-50925830)x0
|
|
|
GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1
|
|
|
GRCh38/hg38 16p12.1(chr16:28485965-28486930)x1
|
|
|
GRCh38/hg38 16p13.3(chr16:1515602-1521308)x3
|
|
|
GRCh38/hg38 16p13.3(chr16:3818098-3858843)x1
|
|
|
GRCh38/hg38 16q23.1(chr16:78099236-78100272)x0
|
|
|
GRCh38/hg38 16q24.3(chr16:89764114-89781847)x0
|
|
|
GRCh38/hg38 17p12(chr17:16018139-16028011)x0
|
|
|
GRCh38/hg38 17p13.1(chr17:6690682-6696039)x0
|
|
|
GRCh38/hg38 17p13.1(chr17:7454200-7454618)x0
|
|
|
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3
|
|
|
GRCh38/hg38 17q11.2(chr17:29461486-29495582)x1
|
|
|
GRCh38/hg38 17q12(chr17:36486532-37745203)x1
|
|
|
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1
|
|
|
GRCh38/hg38 19q13.12(chr19:35811865-35846292)x0
|
|
|
GRCh38/hg38 19q13.42(chr19:54105500-54126715)x1
|
|
|
GRCh38/hg38 19q13.42(chr19:54106667-54131817)x1
|
|
|
GRCh38/hg38 19q13.42(chr19:54114345-54129468)x1
|
|
|
GRCh38/hg38 19q13.42(chr19:54121739-54129468)x1
|
|
|
GRCh38/hg38 19q13.42(chr19:54121739-54131817)x1
|
|
|
GRCh38/hg38 19q13.42(chr19:54152129-54161358)x1
|
|
|
GRCh38/hg38 1p31.3(chr1:61077177-62865614)x1
|
|
|
GRCh38/hg38 1q21.1(chr1:145822587-146064587)x1
|
|
|
GRCh38/hg38 1q21.3(chr1:151017715-151018767)x0
|
|
|
GRCh38/hg38 1q31.3(chr1:197435257-197441674)x0
|
|
|
GRCh38/hg38 1q42.11-42.12(chr1:224304638-224434886)x1
|
|
|
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1
|
|
|
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1
|
|
|
GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1
|
|
|
GRCh38/hg38 1q43-44(chr1:242164274-245299473)x1
|
|
|
GRCh38/hg38 1q43-44(chr1:242520315-246857912)x1
|
|
|
GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1
|
|
|
GRCh38/hg38 1q44(chr1:244051186-244055631)x1
|
|
|
GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3
|
|
|
GRCh38/hg38 20q13.33(chr20:62632017-63794804)x1
|
|
|
GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1
|
|
|
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1
|
|
|
GRCh38/hg38 22q12.3(chr22:37098319-37127846)x1
|
|
|
GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1
|
|
|
GRCh38/hg38 2p13.2(chr2:71503117-71517137)x0
|
|
|
GRCh38/hg38 2q13(chr2:110123182-110205164)x0
|
|
|
GRCh38/hg38 2q13(chr2:111940205-112029659)x0
|
|
|
GRCh38/hg38 2q13(chr2:111940205-112055854)x1
|
|
|
GRCh38/hg38 2q13(chr2:111993999-111994721)x1
|
|
|
GRCh38/hg38 2q21.1(chr2:130099219-130374931)x1
|
|
|
GRCh38/hg38 2q31.1(chr2:171833866-171844606)x0
|
|
|
GRCh38/hg38 2q31.2(chr2:178553579-178637393)x1
|
|
|
GRCh38/hg38 2q35(chr2:219420345-219431647)x1
|
|
|
GRCh38/hg38 3p24.2(chr3:25699606-25738988)x0
|
|
|
GRCh38/hg38 3p25.1(chr3:15488109-15489735)x0
|
|
|
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1
|
|
|
GRCh38/hg38 3q29(chr3:197681032-198111976)x1
|
|
|
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3
|
|
|
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3
|
|
|
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3
|
|
|
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1
|
|
|
GRCh38/hg38 4q22.1(chr4:92303869-92304842)x0
|
|
|
GRCh38/hg38 4q24(chr4:106170998-106171368)x0
|
|
|
GRCh38/hg38 4q28.2(chr4:127949707-127984521)x0
|
|
|
GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1
|
|
|
GRCh38/hg38 5q13.3(chr5:74695284-74702264)x0
|
|
|
GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1
|
|
|
GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1
|
|
|
GRCh38/hg38 6q12(chr6:64902016-64946012)x1
|
|
|
GRCh38/hg38 6q12(chr6:64997485-65057825)x0
|
|
|
GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1
|
|
|
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1
|
|
|
GRCh38/hg38 6q25.3(chr6:157036218-157111403)x1
|
|
|
GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1
|
|
|
GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1
|
|
|
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3
|
|
|
GRCh38/hg38 7q35(chr7:147043810-147167670)x0
|
|
|
GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1
|
|
|
GRCh38/hg38 8p11.23-11.22(chr8:37814644-38528889)x1
|
|
|
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1
|
|
|
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1
|
|
|
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3
|
|
|
GRCh38/hg38 9q31.1(chr9:101426458-101431155)x0
|
|
|
GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1
|
|
|
GRCh38/hg38 Xp11.4(chrX:38269073-38287133)x0
|
|
|
GRCh38/hg38 Xp11.4(chrX:38297187-38299239)x0
|
|
|
GRCh38/hg38 Xp11.4(chrX:38301150-38301469)x0
|
|
|
GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1
|
|
|
GRCh38/hg38 Xp21.1(chrX:31601428-31727780)x0
|
|
|
GRCh38/hg38 Xp21.1(chrX:31782226-32088001)x0
|
|
|
GRCh38/hg38 Xp21.1(chrX:32216792-33041819)x0
|
|
|
GRCh38/hg38 Xp21.1(chrX:32536377-32771300)x0
|
|
|
GRCh38/hg38 Xp22.11-21.1(chrX:23730430-32849918)x3
|
|
|
GRCh38/hg38 Xp22.2(chrX:11766227-11770962)x0
|
|
|
GRCh38/hg38 Xq23(chrX:111250820-111333251)x1
|
|
|
GRCh38/hg38 Xq24(chrX:119582581-119589158)x0
|
|
|
GRCh38/hg38 Xq28(chrX:150592508-150619237)x0
|
|
|
GRCh38/hg38 Xq28(chrX:154375606-154392000)x0
|
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000049.4(ASPA):c.654C>A (p.Cys218Ter)
|
rs104894549
|
|
NM_000059.4(BRCA2):c.1138del (p.Ser380fs)
|
rs80359264
|
|
NM_000059.4(BRCA2):c.5909C>A (p.Ser1970Ter)
|
rs80358824
|
|
NM_000070.3(CAPN3):c.1043del (p.Gly348fs)
|
rs781013226
|
|
NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter)
|
rs1595828703
|
|
NM_000070.3(CAPN3):c.1333G>T (p.Gly445Ter)
|
|
|
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)
|
rs121434545
|
|
NM_000070.3(CAPN3):c.483del (p.Ile162fs)
|
rs863224963
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
|
|
|
NM_000135.4(FANCA):c.4010+1_4010+18del
|
rs752457319
|
|
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)
|
rs202095215
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter)
|
rs1478500490
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter)
|
rs766680292
|
|
NM_000152.5(GAA):c.1725C>A (p.Tyr575Ter)
|
rs112517802
|
|
NM_000152.5(GAA):c.1781G>A (p.Arg594His)
|
rs775450536
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>C (p.Asp645His)
|
rs368438393
|
|
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr)
|
rs368438393
|
|
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys)
|
rs759518659
|
|
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter)
|
rs1057516328
|
|
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)
|
rs752921215
|
|
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser)
|
rs752921215
|
|
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter)
|
rs1800312
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.2242dup (p.Glu748fs)
|
rs777275355
|
|
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter)
|
rs200483245
|
|
NM_000152.5(GAA):c.2432del (p.Leu811fs)
|
rs766560578
|
|
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343
|
|
NM_000152.5(GAA):c.258dup (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.343C>T (p.Gln115Ter)
|
rs786204614
|
|
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714
|
|
NM_000152.5(GAA):c.692+1G>A
|
rs773281453
|
|
NM_000152.5(GAA):c.692+1G>C
|
rs773281453
|
|
NM_000152.5(GAA):c.854C>G (p.Pro285Arg)
|
rs764622267
|
|
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)
|
rs80338736
|
|
NM_000156.6(GAMT):c.402C>G (p.Tyr134Ter)
|
rs556829801
|
|
NM_000156.6(GAMT):c.491del (p.Gly164fs)
|
rs749390953
|
|
NM_000156.6(GAMT):c.491dup (p.Val165fs)
|
rs749390953
|
|
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)
|
rs779931959
|
|
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter)
|
rs200444143
|
|
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)
|
rs121908309
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu)
|
rs77829017
|
|
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys)
|
rs398123530
|
|
NM_000158.4(GBE1):c.1825G>T (p.Glu609Ter)
|
rs772802187
|
|
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT
|
rs869320698
|
|
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)
|
rs80338671
|
|
NM_000162.5(GCK):c.45+1G>T
|
rs781260712
|
|
NM_000162.5(GCK):c.544G>A (p.Val182Met)
|
rs587780345
|
|
NM_000162.5(GCK):c.562G>A (p.Ala188Thr)
|
rs751279776
|
|
NM_000163.5(GHR):c.266+1G>A
|
rs1009412984
|
|
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)
|
rs61750173
|
|
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)
|
rs1064794848
|
|
NM_000195.5(HPS1):c.1189del (p.Gln397fs)
|
rs281865084
|
|
NM_000195.5(HPS1):c.1375del (p.Ser459fs)
|
rs281865086
|
|
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)
|
rs281865163
|
|
NM_000195.5(HPS1):c.1507C>T (p.Gln503Ter)
|
rs748888649
|
|
NM_000195.5(HPS1):c.1513C>T (p.Gln505Ter)
|
rs769446880
|
|
NM_000195.5(HPS1):c.928C>T (p.Gln310Ter)
|
rs748939090
|
|
NM_000195.5(HPS1):c.972del (p.Met325fs)
|
rs281865082
|
|
NM_000195.5(HPS1):c.972dup (p.Met325fs)
|
rs281865082
|
|
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)
|
rs121965033
|
|
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)
|
rs121965025
|
|
NM_000203.5(IDUA):c.590-7G>A
|
rs762411583
|
|
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)
|
rs786200915
|
|
NM_000209.4(PDX1):c.188del (p.Pro63fs)
|
rs193929377
|
|
NM_000231.3(SGCG):c.505+2T>C
|
rs1593216248
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
NM_000283.4(PDE6B):c.2193+1G>A
|
rs727504075
|
|
NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter)
|
rs145605739
|
|
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)
|
rs61755781
|
|
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4539+1G>T
|
rs61751388
|
|
NM_000350.3(ABCA4):c.5898+1G>A
|
rs61750638
|
|
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)
|
rs63749055
|
|
NM_000352.6(ABCC8):c.1138del (p.Ala380fs)
|
|
|
NM_000352.6(ABCC8):c.148+1G>A
|
|
|
NM_000352.6(ABCC8):c.1630+1G>A
|
|
|
NM_000352.6(ABCC8):c.1634del (p.Phe545fs)
|
rs1260178539
|
|
NM_000352.6(ABCC8):c.2113C>T (p.Arg705Ter)
|
rs751848086
|
|
NM_000352.6(ABCC8):c.2117-2A>T
|
rs1476853180
|
|
NM_000352.6(ABCC8):c.2151C>A (p.Cys717Ter)
|
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000352.6(ABCC8):c.2921-1G>A
|
rs772682942
|
|
NM_000352.6(ABCC8):c.2980G>T (p.Glu994Ter)
|
|
|
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)
|
rs755259997
|
|
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)
|
rs886041392
|
|
NM_000352.6(ABCC8):c.3163-1G>A
|
|
|
NM_000352.6(ABCC8):c.3400-1G>A
|
rs576684889
|
|
NM_000352.6(ABCC8):c.3828del (p.Ala1277fs)
|
|
|
NM_000352.6(ABCC8):c.4114C>T (p.Gln1372Ter)
|
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)
|
rs387906407
|
|
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs)
|
rs758844607
|
|
NM_000352.6(ABCC8):c.4412-13G>A
|
rs1008906426
|
|
NM_000352.6(ABCC8):c.4453C>T (p.Gln1485Ter)
|
|
|
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer)
|
rs770664202
|
|
NM_000352.6(ABCC8):c.55C>T (p.Gln19Ter)
|
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)
|
rs750731624
|
|
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)
|
rs121913569
|
|
NM_000426.4(LAMA2):c.6466C>T (p.Arg2156Ter)
|
rs922640025
|
|
NM_000426.4(LAMA2):c.8988+1G>T
|
|
|
NM_000430.4(PAFAH1B1):c.1002+1G>A
|
rs113994203
|
|
NM_000458.4(HNF1B):c.1258dup (p.His420fs)
|
rs1598809697
|
|
NM_000458.4(HNF1B):c.344+2_344+5del
|
|
|
NM_000466.3(PEX1):c.1099del (p.Gln367fs)
|
rs1403870448
|
|
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter)
|
rs748300548
|
|
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
|
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
|
|
|
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter)
|
rs756039188
|
|
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
|
|
|
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter)
|
rs370777955
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter)
|
rs138947766
|
|
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys)
|
rs374045590
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)
|
rs758580075
|
|
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)
|
rs120074125
|
|
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)
|
rs120074127
|
|
NM_000543.5(SMPD1):c.151_154del (p.Asp51fs)
|
rs1057516949
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
NM_000543.5(SMPD1):c.193del (p.Ser65fs)
|
rs1057517098
|
|
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)
|
rs786204694
|
|
NM_000543.5(SMPD1):c.564del (p.Lys189fs)
|
rs756366019
|
|
NM_000543.5(SMPD1):c.730G>T (p.Gly244Ter)
|
rs120074122
|
|
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)
|
rs794727252
|
|
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter)
|
rs120074120
|
|
NM_000543.5(SMPD1):c.996del (p.Phe333fs)
|
rs387906289
|
|
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1330_1331del (p.Gln444fs)
|
rs776793516
|
|
NM_000545.8(HNF1A):c.1396C>T (p.Gln466Ter)
|
rs1877175078
|
|
NM_000545.8(HNF1A):c.1502-6G>A
|
rs1458430820
|
|
NM_000545.8(HNF1A):c.392G>A (p.Arg131Gln)
|
rs753998395
|
|
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)
|
rs754728827
|
|
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)
|
rs587776825
|
|
NM_000546.6(TP53):c.1083del (p.Ser362fs)
|
rs1555524354
|
|
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer)
|
rs786204678
|
|
NM_000975.5(RPL11):c.60_61del (p.Cys21fs)
|
rs1570566590
|
|
NM_001002295.2(GATA3):c.708dup (p.Ser237fs)
|
rs771019738
|
|
NM_001022.4(RPS19):c.316del (p.Ala106fs)
|
|
|
NM_001029.5(RPS26):c.1A>G (p.Met1Val)
|
rs143951267
|
|
NM_001029.5(RPS26):c.3+1G>T
|
|
|
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)
|
rs367658438
|
|
NM_001029883.3(PCARE):c.478_479insA (p.Cys160Ter)
|
rs1572829866
|
|
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter)
|
rs1397537890
|
|
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs)
|
rs2067187618
|
|
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs)
|
rs1186795749
|
|
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs)
|
rs606231180
|
|
NM_001037333.3(CYFIP2):c.1917C>G (p.Ile639Met)
|
rs369858004
|
|
NM_001039591.3(USP9X):c.323-1G>A
|
|
|
NM_001039591.3(USP9X):c.6547del (p.Phe2182_Val2183insTer)
|
|
|
NM_001040142.2(SCN2A):c.1177-2A>C
|
|
|
NM_001040142.2(SCN2A):c.2877C>A (p.Cys959Ter)
|
rs746163041
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001077365.2(POMT1):c.2113_2114del (p.Ser705fs)
|
rs587777819
|
|
NM_001083962.2(TCF4):c.1144_1145insC (p.Leu382fs)
|
|
|
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter)
|
rs121909122
|
|
NM_001083962.2(TCF4):c.840_841insGAGAAAG (p.Ser281fs)
|
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001130987.2(DYSF):c.1258del (p.Ala420fs)
|
rs779969348
|
|
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)
|
rs369607332
|
|
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)
|
rs746315830
|
|
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)
|
rs398123786
|
|
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
|
rs1786504555
|
|
NM_001142800.2(EYS):c.6137G>A (p.Trp2046Ter)
|
rs878853350
|
|
NM_001142800.2(EYS):c.7056-2A>C
|
rs1772621012
|
|
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)
|
rs770748359
|
|
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)
|
rs769824975
|
|
NM_001164508.2(NEB):c.20719del (p.His6907fs)
|
|
|
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)
|
rs121917975
|
|
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)
|
rs121912585
|
|
NM_001184880.2(PCDH19):c.1958_1959del (p.Ser653fs)
|
rs796052835
|
|
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter)
|
rs202193201
|
|
NM_001242957.3:c.1297_1298insAlu
|
|
|
NM_001267550.2(TTN):c.101789del (p.Leu33930fs)
|
rs1575285509
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)
|
rs534484592
|
|
NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs)
|
rs794727544
|
|
NM_001267550.2(TTN):c.107351C>G (p.Ser35784Ter)
|
rs1575185742
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.29621_29624del (p.Glu9874fs)
|
rs777924443
|
|
NM_001267550.2(TTN):c.35041G>T (p.Glu11681Ter)
|
rs557526069
|
|
NM_001267550.2(TTN):c.35678_35685delinsA (p.Thr11893fs)
|
rs2066169270
|
|
NM_001267550.2(TTN):c.38661_38665del (p.Lys12887fs)
|
rs1553775212
|
|
NM_001267550.2(TTN):c.81723T>A (p.Tyr27241Ter)
|
rs769821404
|
|
NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)
|
rs104893680
|
|
NM_001282225.2(ADA2):c.144del (p.Arg49fs)
|
rs756881285
|
|
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter)
|
rs1555955296
|
|
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)
|
rs724159949
|
|
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter)
|
rs886041705
|
|
NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)
|
|
|
NM_001365902.3(NFIX):c.413del (p.Lys138fs)
|
|
|
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)
|
rs1564493599
|
|
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter)
|
rs137852815
|
|
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter)
|
rs1602253509
|
|
NM_001372044.2(SHANK3):c.4978G>T (p.Glu1660Ter)
|
rs1603447380
|
|
NM_001374504.1(TMPRSS6):c.1055C>A (p.Ser352Ter)
|
|
|
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)
|
rs1289067120
|
|
NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter)
|
rs1583491515
|
|
NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)
|
|
|
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln)
|
rs1057519389
|
|
NM_001375380.1(EBF3):c.934C>T (p.Arg312Ter)
|
rs1064796669
|
|
NM_001378.3(DYNC1I2):c.868C>T (p.Gln290Ter)
|
rs1574596084
|
|
NM_001378120.1(MBD5):c.4869G>A (p.Trp1623Ter)
|
|
|
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)
|
rs587777450
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378454.1(ALMS1):c.10771del (p.Thr3591fs)
|
rs2104105073
|
|
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)
|
rs770558150
|
|
NM_001378454.1(ALMS1):c.833_834del (p.Phe278fs)
|
rs1671340542
|
|
NM_001384140.1(PCDH15):c.1529del (p.Pro510fs)
|
rs767847479
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs)
|
|
|
NM_001384140.1(PCDH15):c.2754dup (p.Met919fs)
|
|
|
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587
|
|
NM_001384140.1(PCDH15):c.3501+2T>C
|
rs757418440
|
|
NM_001384140.1(PCDH15):c.3717+1G>T
|
rs748706627
|
|
NM_001384140.1(PCDH15):c.3718-2A>G
|
rs1307471318
|
|
NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs)
|
|
|
NM_001384732.1(CPLANE1):c.3507+1G>A
|
rs1580686235
|
|
NM_001384732.1(CPLANE1):c.8663+1G>T
|
rs1580084520
|
|
NM_001384732.1(CPLANE1):c.9148dup (p.Gln3050fs)
|
rs1579888631
|
|
NM_001394062.1(MACF1):c.21707G>T (p.Cys7236Phe)
|
rs1557668270
|
|
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys)
|
rs587777387
|
|
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)
|
rs587777620
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
NM_001904.4(CTNNB1):c.807del (p.Met271fs)
|
rs2078160286
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002291.3(LAMB1):c.4188+1G>C
|
|
|
NM_002354.3(EPCAM):c.265C>T (p.Gln89Ter)
|
rs1324088403
|
|
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser)
|
rs121918104
|
|
NM_003322.6(TULP1):c.487C>T (p.Gln163Ter)
|
rs2150927932
|
|
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter)
|
rs587783695
|
|
NM_003482.4(KMT2D):c.6991del (p.Pro2330_Leu2331insTer)
|
|
|
NM_003560.4(PLA2G6):c.1186+1G>A
|
rs761815070
|
|
NM_003560.4(PLA2G6):c.127C>T (p.Gln43Ter)
|
|
|
NM_003560.4(PLA2G6):c.1427+2T>C
|
|
|
NM_003560.4(PLA2G6):c.1A>G (p.Met1Val)
|
|
|
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter)
|
rs587784346
|
|
NM_003560.4(PLA2G6):c.319del (p.Leu107fs)
|
rs776376695
|
|
NM_003560.4(PLA2G6):c.991G>T (p.Asp331Tyr)
|
rs199935023
|
|
NM_003611.3(OFD1):c.400_403del (p.Glu134fs)
|
rs312262830
|
|
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)
|
rs1057519632
|
|
NM_003900.5(SQSTM1):c.311_312del (p.Glu104fs)
|
rs886039781
|
|
NM_003924.4(PHOX2B):c.753_767dup (p.Ala256_Ala260dup)
|
rs779557320
|
|
NM_004006.3(DMD):c.5407C>T (p.Gln1803Ter)
|
rs1557294228
|
|
NM_004006.3(DMD):c.5697del (p.Lys1899fs)
|
rs794727661
|
|
NM_004006.3(DMD):c.7159C>T (p.Gln2387Ter)
|
rs1556930579
|
|
NM_004130.4(GYG1):c.487del (p.Asp163fs)
|
rs727502871
|
|
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)
|
rs121918312
|
|
NM_004380.3(CREBBP):c.4567_4568del (p.Phe1523fs)
|
|
|
NM_004408.4(DNM1):c.1335+1638G>A
|
rs747079285
|
|
NM_004429.5(EFNB1):c.101_114del (p.Pro34fs)
|
|
|
NM_004463.3(FGD1):c.527dup (p.Leu177fs)
|
rs756586058
|
|
NM_004523.4(KIF11):c.2267+1G>A
|
|
|
NM_004523.4(KIF11):c.2548-1G>A
|
rs1554863016
|
|
NM_004523.4(KIF11):c.2932_2933dup (p.Val978_Glu979insTer)
|
rs2135925949
|
|
NM_004523.4(KIF11):c.77+1G>A
|
rs1057524736
|
|
NM_005120.3(MED12):c.5898dup (p.Ser1967fs)
|
rs879255527
|
|
NM_005215.4(DCC):c.1573+2T>G
|
|
|
NM_005249.5(FOXG1):c.256del (p.Gln86fs)
|
rs786205001
|
|
NM_005249.5(FOXG1):c.637A>T (p.Lys213Ter)
|
|
|
NM_005249.5(FOXG1):c.814_821del (p.Lys272fs)
|
|
|
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)
|
rs281875321
|
|
NM_005639.3(SYT1):c.1098C>G (p.Asp366Glu)
|
rs1565962725
|
|
NM_005677.4(COLQ):c.1061G>A (p.Trp354Ter)
|
rs2125086401
|
|
NM_005876.5(SPEG):c.8872C>T (p.Arg2958Ter)
|
|
|
NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr)
|
rs121913562
|
|
NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter)
|
rs1038816435
|
|
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs)
|
rs1730930342
|
|
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)
|
rs587784483
|
|
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)
|
rs1057517843
|
|
NM_006015.6(ARID1A):c.4087C>T (p.Gln1363Ter)
|
|
|
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)
|
rs137853006
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn)
|
rs267607164
|
|
NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg)
|
rs864321715
|
|
NM_006269.2(RP1):c.688G>T (p.Gly230Ter)
|
rs1585559122
|
|
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly)
|
rs752997229
|
|
NM_006459.4(ERLIN1):c.196-1G>A
|
|
|
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer)
|
rs386833969
|
|
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)
|
rs869312704
|
|
NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter)
|
rs1554122455
|
|
NM_006772.3(SYNGAP1):c.3795-1G>A
|
|
|
NM_006831.3(CLP1):c.419G>A (p.Arg140His)
|
rs587777616
|
|
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)
|
rs672601334
|
|
NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter)
|
rs769791060
|
|
NM_007055.4(POLR3A):c.1771-6C>G
|
rs115020338
|
|
NM_007055.4(POLR3A):c.1771-7C>G
|
rs201314157
|
|
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val)
|
rs267608671
|
|
NM_007055.4(POLR3A):c.2710G>T (p.Gly904Ter)
|
|
|
NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter)
|
rs267608674
|
|
NM_007055.4(POLR3A):c.3115C>T (p.Gln1039Ter)
|
|
|
NM_007055.4(POLR3A):c.3733C>T (p.Arg1245Ter)
|
rs928051665
|
|
NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs)
|
rs1378008503
|
|
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)
|
rs727503731
|
|
NM_012233.3(RAB3GAP1):c.1555-1G>A
|
rs1573584395
|
|
NM_012233.3(RAB3GAP1):c.748+1G>A
|
rs587776651
|
|
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs)
|
rs199470477
|
|
NM_013275.6(ANKRD11):c.7192C>T (p.Gln2398Ter)
|
rs1265287370
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014795.4(ZEB2):c.1426dup (p.Met476fs)
|
rs587776604
|
|
NM_014795.4(ZEB2):c.1884del (p.Phe628fs)
|
rs786204811
|
|
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter)
|
rs137852981
|
|
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)
|
rs587784566
|
|
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)
|
rs587784571
|
|
NM_015021.3(ZNF292):c.3066_3069del (p.Glu1022fs)
|
rs1135401779
|
|
NM_015378.4(VPS13D):c.10142-2A>G
|
|
|
NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter)
|
rs2077221203
|
|
NM_015443.4(KANSL1):c.611dup (p.Met205fs)
|
|
|
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)
|
rs1562957809
|
|
NM_016038.4(SBDS):c.120del (p.Ser41fs)
|
rs113993990
|
|
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter)
|
rs201008667
|
|
NM_017739.4(POMGNT1):c.1545del (p.Tyr516fs)
|
rs1434252108
|
|
NM_017739.4(POMGNT1):c.303_304insT (p.Glu102Ter)
|
|
|
NM_017739.4(POMGNT1):c.351del (p.Thr118fs)
|
rs386834028
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
NM_017780.4(CHD7):c.3431del (p.Leu1144fs)
|
|
|
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter)
|
rs1563644066
|
|
NM_017780.4(CHD7):c.5405-7G>A
|
rs398124321
|
|
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)
|
rs886040995
|
|
NM_017780.4(CHD7):c.7276del (p.Gln2426fs)
|
rs1805723571
|
|
NM_017882.3(CLN6):c.316dup (p.Arg106fs)
|
rs397515352
|
|
NM_018076.5(ODAD2):c.2675C>A (p.Ser892Ter)
|
rs587777049
|
|
NM_018082.6(POLR3B):c.1533del (p.Ile511fs)
|
rs267608684
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter)
|
rs1057520873
|
|
NM_018136.5(ASPM):c.688del (p.Glu230fs)
|
rs1557966012
|
|
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter)
|
rs763909256
|
|
NM_018136.5(ASPM):c.8596_8597del (p.Leu2866fs)
|
rs1571596976
|
|
NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter)
|
rs2125088498
|
|
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter)
|
rs1131691616
|
|
NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs)
|
rs1929136990
|
|
NM_018972.4(GDAP1):c.786del (p.Phe263fs)
|
rs1060500978
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
NM_020366.4(RPGRIP1):c.1468-263G>C
|
rs1594202505
|
|
NM_020366.4(RPGRIP1):c.3238+1G>A
|
rs1325103400
|
|
NM_020366.4(RPGRIP1):c.3618-1_3621del
|
rs1594280740
|
|
NM_020366.4(RPGRIP1):c.895_896del (p.Glu299fs)
|
rs1594180177
|
|
NM_020451.3(SELENON):c.1176del (p.Glu394fs)
|
|
|
NM_020451.3(SELENON):c.1180G>T (p.Glu394Ter)
|
rs747284477
|
|
NM_020451.3(SELENON):c.13_22dup (p.Gln8fs)
|
rs797044621
|
|
NM_020451.3(SELENON):c.249_250dup (p.Asp84fs)
|
rs1553198611
|
|
NM_020451.3(SELENON):c.69_76dup (p.Arg26fs)
|
|
|
NM_020451.3(SELENON):c.713dup (p.Asn238fs)
|
rs368104077
|
|
NM_020451.3(SELENON):c.746_747+36del
|
rs2047932848
|
|
NM_020451.3(SELENON):c.997_1000del (p.Val333fs)
|
rs886041686
|
|
NM_020919.4(ALS2):c.2580+2T>C
|
rs2106023727
|
|
NM_020919.4(ALS2):c.4270C>T (p.Gln1424Ter)
|
rs1689931402
|
|
NM_020919.4(ALS2):c.4573dup (p.Val1525fs)
|
rs730882256
|
|
NM_020964.3(EPG5):c.1252+1G>A
|
|
|
NM_020964.3(EPG5):c.2413-2A>G
|
|
|
NM_020964.3(EPG5):c.6724del (p.Met2242fs)
|
|
|
NM_021224.6(ZNF462):c.3502dup (p.Arg1168fs)
|
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)
|
rs587777446
|
|
NM_022455.5(NSD1):c.3904C>T (p.Gln1302Ter)
|
|
|
NM_023067.4(FOXL2):c.223C>T (p.Leu75Phe)
|
|
|
NM_024426.6(WT1):c.1447+5G>A
|
rs587776576
|
|
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs)
|
rs80338924
|
|
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs)
|
rs1064797314
|
|
NM_024757.5(EHMT1):c.1051del (p.Asp351fs)
|
|
|
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)
|
rs312262752
|
|
NM_025137.4(SPG11):c.315del (p.Ala106fs)
|
rs1595940106
|
|
NM_025137.4(SPG11):c.5769del (p.Ser1923fs)
|
rs312262770
|
|
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs)
|
rs312262784
|
|
NM_025137.4(SPG11):c.782C>A (p.Ser261Ter)
|
rs765477482
|
|
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs)
|
rs1599563995
|
|
NM_030632.3(ASXL3):c.1961_1962insA (p.Ser654_Ser655insTer)
|
|
|
NM_030632.3(ASXL3):c.902_911del (p.Arg301fs)
|
|
|
NM_031844.3(HNRNPU):c.1664del (p.Leu555fs)
|
rs1680691597
|
|
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)
|
rs794727197
|
|
NM_033419.5(PGAP3):c.402dup (p.Met135fs)
|
rs869312812
|
|
NM_033629.6(TREX1):c.58dup (p.Glu20fs)
|
rs78300695
|
|
NM_130466.4(UBE3B):c.2569-2A>C
|
|
|
NM_130837.3(OPA1):c.1261C>T (p.Arg421Ter)
|
rs104893753
|
|
NM_134261.3(RORA):c.275G>C (p.Gly92Ala)
|
rs1555427498
|
|
NM_138711.6(PPARG):c.1394C>T (p.Pro465Leu)
|
rs121909244
|
|
NM_138927.4(SON):c.286C>T (p.Gln96Ter)
|
rs886039777
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
NM_152564.5(VPS13B):c.2014-2A>G
|
rs1588095580
|
|
NM_152564.5(VPS13B):c.412+1G>T
|
rs1057517295
|
|
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs)
|
rs752399634
|
|
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)
|
rs180177329
|
|
NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser)
|
rs267607116
|
|
NM_172240.3(POC1B):c.317G>C (p.Arg106Pro)
|
rs76216585
|
|
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr)
|
rs137852912
|
|
NM_181672.3(OGT):c.1942A>T (p.Asn648Tyr)
|
rs1602152230
|
|
NM_198880.3(QRICH1):c.845dup (p.Leu282fs)
|
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_203475.3(PORCN):c.283C>T (p.Arg95Ter)
|
rs1602070472
|
|
NM_206933.4(USH2A):c.1111_1112del (p.Ile371fs)
|
rs1366496013
|
|
NM_206933.4(USH2A):c.14977_14978del (p.Phe4993fs)
|
rs747160949
|
|
NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)
|
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
NM_213599.3(ANO5):c.1627dup (p.Met543fs)
|
rs281865480
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
Single allele
|
|
|