NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp)
|
rs141090143
|
0.00278
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)
|
rs79389353
|
0.00238
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu)
|
rs3970555
|
0.00149
|
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)
|
rs28931570
|
0.00137
|
NM_000065.5(C6):c.821del (p.Gln274fs)
|
rs557023458
|
0.00131
|
NM_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00131
|
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
|
rs142609245
|
0.00116
|
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)
|
rs56264519
|
0.00105
|
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)
|
rs138994150
|
0.00103
|
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)
|
rs139582106
|
0.00096
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_000587.4(C7):c.405del (p.Asn136fs)
|
rs139491301
|
0.00088
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
NM_001081.4(CUBN):c.6821+2T>C
|
rs150901286
|
0.00083
|
NM_198076.6(COX20):c.157+3G>C
|
rs367956888
|
0.00066
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr)
|
rs148660051
|
0.00056
|
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
|
rs34946978
|
0.00053
|
NM_001127255.2(NLRP7):c.2738A>G (p.Asn913Ser)
|
rs104895503
|
0.00048
|
NM_000017.4(ACADS):c.988C>T (p.Arg330Cys)
|
rs140853839
|
0.00046
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)
|
rs554847663
|
0.00040
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_019616.4(F7):c.995C>T (p.Ala332Val)
|
rs36209567
|
0.00038
|
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly)
|
rs143388292
|
0.00034
|
NM_001142800.2(EYS):c.2137+1G>A
|
rs199740930
|
0.00034
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)
|
rs34295337
|
0.00030
|
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)
|
rs61753180
|
0.00029
|
NM_000372.5(TYR):c.649C>T (p.Arg217Trp)
|
rs63159160
|
0.00029
|
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter)
|
rs202058504
|
0.00029
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)
|
rs28934891
|
0.00026
|
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)
|
rs138156467
|
0.00026
|
NM_020631.6(PLEKHG5):c.440-2A>G
|
rs144750655
|
0.00026
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)
|
rs201842633
|
0.00025
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
NM_000066.4(C8B):c.271C>T (p.Gln91Ter)
|
rs146187042
|
0.00023
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)
|
rs79987078
|
0.00023
|
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)
|
rs202142867
|
0.00022
|
NM_000387.6(SLC25A20):c.198+2T>C
|
rs147540030
|
0.00022
|
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu)
|
rs143473912
|
0.00021
|
NM_198053.3(CD247):c.301C>T (p.Gln101Ter)
|
rs55729925
|
0.00021
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
NM_001876.4(CPT1A):c.1364A>C (p.Lys455Thr)
|
rs189174414
|
0.00020
|
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
|
rs138011813
|
0.00020
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter)
|
rs376983373
|
0.00019
|
NM_000132.4(F8):c.396A>C (p.Glu132Asp)
|
rs137852388
|
0.00018
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)
|
rs145254330
|
0.00017
|
NM_006767.4(LZTR1):c.264-13G>A
|
rs587777176
|
0.00017
|
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)
|
rs143441644
|
0.00017
|
NM_016335.6(PRODH):c.930-1G>C
|
rs751149776
|
0.00017
|
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)
|
rs34993780
|
0.00016
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_001038.6(SCNN1A):c.1435T>C (p.Cys479Arg)
|
rs201873521
|
0.00016
|
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter)
|
rs140611214
|
0.00016
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
NR_003051.4(RMRP):n.6C>T
|
rs772443941
|
0.00016
|
NM_000049.4(ASPA):c.212G>A (p.Arg71His)
|
rs104894553
|
0.00015
|
NM_000204.5(CFI):c.772G>A (p.Ala258Thr)
|
rs199688124
|
0.00014
|
NM_000250.2(MPO):c.604G>T (p.Glu202Ter)
|
rs778013714
|
0.00014
|
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)
|
rs764353860
|
0.00014
|
NM_001041.4(SI):c.4251T>G (p.Tyr1417Ter)
|
rs142090504
|
0.00014
|
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr)
|
rs773850151
|
0.00014
|
NM_003041.4(SLC5A2):c.885+5G>A
|
rs200228142
|
0.00014
|
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
|
rs121918358
|
0.00014
|
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)
|
rs121434287
|
0.00014
|
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys)
|
rs142073798
|
0.00014
|
NM_000065.5(C6):c.1786C>T (p.Arg596Ter)
|
rs142881576
|
0.00013
|
NM_001395891.1(CLASP1):c.196-591C>T
|
rs756026847
|
0.00013
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)
|
rs188824058
|
0.00013
|
NM_004407.4(DMP1):c.135+1G>T
|
rs141480996
|
0.00013
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_000122.2(ERCC3):c.1757del (p.Gln586fs)
|
rs753182861
|
0.00012
|
NM_000250.2(MPO):c.249-2A>G
|
rs762526880
|
0.00012
|
NM_001363711.2(DUOX2):c.3006-2A>G
|
rs371960046
|
0.00012
|
NM_020191.4(MRPS22):c.509G>A (p.Arg170His)
|
rs119478059
|
0.00012
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_000487.6(ARSA):c.869G>A (p.Arg290His)
|
rs199476355
|
0.00011
|
NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp)
|
rs104894072
|
0.00011
|
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)
|
rs150046661
|
0.00011
|
NM_001171.6(ABCC6):c.1553G>A (p.Arg518Gln)
|
rs72653772
|
0.00011
|
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)
|
rs552436294
|
0.00011
|
NM_003322.6(TULP1):c.1496-6C>A
|
rs281865171
|
0.00011
|
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)
|
rs767890671
|
0.00011
|
NM_014585.6(SLC40A1):c.626C>T (p.Ser209Leu)
|
rs200018415
|
0.00011
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
NM_020442.6(VARS2):c.2467-2A>G
|
rs200075594
|
0.00011
|
NM_020632.3(ATP6V0A4):c.1029+5G>A
|
rs147476317
|
0.00011
|
NM_033068.3(ACP4):c.331C>T (p.Arg111Cys)
|
rs202073531
|
0.00011
|
NM_138694.4(PKHD1):c.6907A>T (p.Ile2303Phe)
|
rs751084512
|
0.00011
|
NM_203395.3(IYD):c.658G>A (p.Ala220Thr)
|
rs121918140
|
0.00011
|
NM_000094.4(COL7A1):c.5820G>A (p.Pro1940=)
|
rs200972872
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000349.3(STAR):c.815G>A (p.Arg272His)
|
rs540090187
|
0.00010
|
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala)
|
rs121908863
|
0.00010
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
NM_001127217.3(SMAD9):c.781+2T>A
|
rs770716081
|
0.00010
|
NM_001136193.2(FASTKD2):c.882-1G>A
|
rs767682048
|
0.00010
|
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp)
|
rs267607052
|
0.00010
|
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)
|
rs191582628
|
0.00010
|
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)
|
rs137854526
|
0.00010
|
NR_003051.4(RMRP):n.244A>G
|
rs551450545
|
0.00010
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
0.00009
|
NM_000097.7(CPOX):c.1210A>G (p.Lys404Glu)
|
rs121917868
|
0.00009
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_000383.4(AIRE):c.1095+2T>C
|
rs760280615
|
0.00009
|
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys)
|
rs121918608
|
0.00009
|
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln)
|
rs201727231
|
0.00009
|
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met)
|
rs145337602
|
0.00009
|
NM_001126108.2(SLC12A3):c.602-16G>A
|
rs750901478
|
0.00009
|
NM_001164508.2(NEB):c.24114+1G>A
|
rs755239192
|
0.00009
|
NM_001171.6(ABCC6):c.3341G>A (p.Arg1114His)
|
rs63750427
|
0.00009
|
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys)
|
rs141744337
|
0.00009
|
NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)
|
rs777425801
|
0.00009
|
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg)
|
rs121964881
|
0.00009
|
NM_003114.5(SPAG1):c.897_901del (p.Lys301fs)
|
rs751845138
|
0.00009
|
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)
|
rs149712244
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_004366.6(CLCN2):c.898+1G>A
|
rs141074059
|
0.00009
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)
|
rs183276875
|
0.00009
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_000017.4(ACADS):c.1147C>T (p.Arg383Cys)
|
rs28940872
|
0.00008
|
NM_000017.4(ACADS):c.136C>T (p.Arg46Trp)
|
rs121908003
|
0.00008
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00008
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000275.3(OCA2):c.1503+5G>A
|
rs368124046
|
0.00008
|
NM_000359.3(TGM1):c.420A>G (p.Ile140Met)
|
rs139208806
|
0.00008
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00008
|
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln)
|
rs564428355
|
0.00008
|
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)
|
rs193922538
|
0.00008
|
NM_001018115.3(FANCD2):c.1279-2A>G
|
rs748006255
|
0.00008
|
NM_002528.7(NTHL1):c.526-1G>A
|
rs779757251
|
0.00008
|
NM_019616.4(F7):c.413A>G (p.Gln138Arg)
|
rs200016360
|
0.00008
|
NM_021254.4(CFAP298):c.292C>T (p.Arg98Ter)
|
rs143740376
|
0.00008
|
NM_025243.4(SLC19A3):c.980-14A>G
|
rs200542114
|
0.00008
|
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)
|
rs144539572
|
0.00008
|
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)
|
rs121908739
|
0.00007
|
NM_000187.4(HGD):c.125A>C (p.Glu42Ala)
|
rs373921680
|
0.00007
|
NM_000282.4(PCCA):c.1284+1G>A
|
rs752761437
|
0.00007
|
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val)
|
rs770199817
|
0.00007
|
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)
|
rs374538208
|
0.00007
|
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)
|
rs587776906
|
0.00007
|
NM_001349206.2(LPIN1):c.1807-2A>G
|
rs533651991
|
0.00007
|
NM_001364171.2(ODAD1):c.1502+5G>A
|
rs201133219
|
0.00007
|
NM_001379270.1(CNGA1):c.1873C>T (p.Arg625Ter)
|
rs376959147
|
0.00007
|
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)
|
rs121913037
|
0.00007
|
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)
|
rs386833895
|
0.00007
|
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
|
rs104894178
|
0.00007
|
NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His)
|
rs781691587
|
0.00007
|
NM_052989.3(IFT122):c.272+1G>A
|
rs372483083
|
0.00007
|
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu)
|
rs202047589
|
0.00007
|
NM_199069.2(NDUFAF3):c.489_490del (p.Gly164fs)
|
rs746835381
|
0.00007
|
NR_003051.3(RMRP):n.-22_-13dup
|
rs1554651507
|
0.00007
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00006
|
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met)
|
rs776280797
|
0.00006
|
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)
|
rs121918528
|
0.00006
|
NM_000122.2(ERCC3):c.1421dup (p.Asp474fs)
|
rs587778281
|
0.00006
|
NM_000128.4(F11):c.1288G>A (p.Ala430Thr)
|
rs753909969
|
0.00006
|
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp)
|
rs970505762
|
0.00006
|
NM_000237.3(LPL):c.292G>A (p.Ala98Thr)
|
rs145657341
|
0.00006
|
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys)
|
rs781474200
|
0.00006
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
|
rs397516322
|
0.00006
|
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)
|
rs371582179
|
0.00006
|
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)
|
rs397516421
|
0.00006
|
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn)
|
rs121908030
|
0.00006
|
NM_000587.4(C7):c.1135G>C (p.Gly379Arg)
|
rs121964921
|
0.00006
|
NM_000782.5(CYP24A1):c.1187G>A (p.Arg396Gln)
|
rs143934667
|
0.00006
|
NM_001083116.3(PRF1):c.666C>A (p.His222Gln)
|
rs751247865
|
0.00006
|
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met)
|
rs187885782
|
0.00006
|
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr)
|
rs201945662
|
0.00006
|
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)
|
rs121908958
|
0.00006
|
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)
|
rs137853190
|
0.00006
|
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)
|
rs72653788
|
0.00006
|
NM_001171.6(ABCC6):c.2542del (p.Met848fs)
|
rs67867306
|
0.00006
|
NM_001171.6(ABCC6):c.3389C>T (p.Thr1130Met)
|
rs63750459
|
0.00006
|
NM_001171.6(ABCC6):c.3413G>A (p.Arg1138Gln)
|
rs60791294
|
0.00006
|
NM_001171.6(ABCC6):c.3887G>A (p.Gly1296Asp)
|
rs374086268
|
0.00006
|
NM_001267550.2(TTN):c.39974-11T>G
|
rs758597536
|
0.00006
|
NM_001278716.2(FBXL4):c.616C>T (p.Arg206Ter)
|
rs964532159
|
0.00006
|
NM_001303.4(COX10):c.1007A>T (p.Asp336Val)
|
rs104894557
|
0.00006
|
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn)
|
rs137853120
|
0.00006
|
NM_001384474.1(LOXHD1):c.3061+1G>A
|
rs537227442
|
0.00006
|
NM_001384479.1(AGT):c.829+1G>T
|
rs747815674
|
0.00006
|
NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg)
|
rs80338891
|
0.00006
|
NM_004482.4(GALNT3):c.1524+5G>A
|
rs375879489
|
0.00006
|
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)
|
rs147757966
|
0.00006
|
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)
|
rs386833909
|
0.00006
|
NM_005055.5(RAPSN):c.133G>A (p.Val45Met)
|
rs121909254
|
0.00006
|
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp)
|
rs121918537
|
0.00006
|
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)
|
rs772544112
|
0.00006
|
NM_006642.5(SDCCAG8):c.740+356C>T
|
rs397515337
|
0.00006
|
NM_012203.2(GRHPR):c.734+1G>A
|
rs148049120
|
0.00006
|
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser)
|
rs775057827
|
0.00006
|
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)
|
rs80338729
|
0.00006
|
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)
|
rs202247807
|
0.00006
|
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)
|
rs140873167
|
0.00006
|
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter)
|
rs1002670900
|
0.00006
|
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)
|
rs121908345
|
0.00006
|
NM_015346.4(ZFYVE26):c.3139+1G>A
|
rs137907310
|
0.00006
|
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met)
|
rs749136456
|
0.00006
|
NM_020041.3(SLC2A9):c.374C>T (p.Thr125Met)
|
rs181509591
|
0.00006
|
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)
|
rs119103212
|
0.00006
|
NM_020365.5(EIF2B3):c.272G>A (p.Arg91His)
|
rs141988913
|
0.00006
|
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter)
|
rs767072839
|
0.00006
|
NM_153700.2(STRC):c.4219-1G>A
|
rs748854592
|
0.00006
|
NR_003051.4(RMRP):n.37C>T
|
rs549085067
|
0.00006
|
NM_000022.4(ADA):c.872C>T (p.Ser291Leu)
|
rs121908721
|
0.00005
|
NM_000030.3(AGXT):c.353G>A (p.Arg118His)
|
rs138025751
|
0.00005
|
NM_000112.4(SLC26A2):c.700-1G>C
|
rs200963884
|
0.00005
|
NM_000183.3(HADHB):c.182G>A (p.Arg61His)
|
rs121913132
|
0.00005
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
NM_000312.4(PROC):c.541T>G (p.Phe181Val)
|
rs199469470
|
0.00005
|
NM_000341.4(SLC3A1):c.1093C>T (p.Arg365Trp)
|
rs765828196
|
0.00005
|
NM_000379.4(XDH):c.1602+1G>A
|
rs376882470
|
0.00005
|
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
|
rs111033242
|
0.00005
|
NM_000531.6(OTC):c.118C>T (p.Arg40Cys)
|
rs72554307
|
0.00005
|
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)
|
rs34803727
|
0.00005
|
NM_001174089.2(SLC4A11):c.2192+1G>A
|
rs759540763
|
0.00005
|
NM_001243279.3(ACSF3):c.246del (p.Cys83fs)
|
rs772073893
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)
|
rs199584830
|
0.00005
|
NM_001395891.1(CLASP1):c.196-602C>T
|
rs863225422
|
0.00005
|
NM_001854.4(COL11A1):c.1245+1G>A
|
rs766849561
|
0.00005
|
NM_002693.3(POLG):c.3104+1G>A
|
rs138917386
|
0.00005
|
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys)
|
rs377216516
|
0.00005
|
NM_004260.4(RECQL4):c.2650del (p.Gln884fs)
|
rs1203766600
|
0.00005
|
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)
|
rs371493232
|
0.00005
|
NM_006005.3(WFS1):c.1673G>A (p.Arg558His)
|
rs774265764
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
NM_015512.5(DNAH1):c.10636C>T (p.Arg3546Ter)
|
rs200416242
|
0.00005
|
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter)
|
rs745870736
|
0.00005
|
NM_020451.3(SELENON):c.1A>G (p.Met1Val)
|
rs121908184
|
0.00005
|
NM_024596.5(MCPH1):c.1974-2A>G
|
rs541042265
|
0.00005
|
NM_080860.4(RSPH1):c.727+5G>A
|
rs200382776
|
0.00005
|
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr)
|
rs200511261
|
0.00005
|
NM_144585.4(SLC22A12):c.1145A>T (p.Gln382Leu)
|
rs765990518
|
0.00005
|
NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter)
|
rs371886218
|
0.00005
|
NM_206933.4(USH2A):c.14489C>G (p.Ser4830Ter)
|
rs184351619
|
0.00005
|
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)
|
rs398123125
|
0.00004
|
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys)
|
rs755554442
|
0.00004
|
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu)
|
rs199806879
|
0.00004
|
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter)
|
rs377215024
|
0.00004
|
NM_000091.5(COL4A3):c.4819G>T (p.Glu1607Ter)
|
rs764046610
|
0.00004
|
NM_000110.4(DPYD):c.1681C>T (p.Arg561Ter)
|
rs1057516968
|
0.00004
|
NM_000110.4(DPYD):c.257C>T (p.Pro86Leu)
|
rs568132506
|
0.00004
|
NM_000111.3(SLC26A3):c.358G>A (p.Gly120Ser)
|
rs386833479
|
0.00004
|
NM_000122.2(ERCC3):c.1720C>T (p.Arg574Ter)
|
rs768687646
|
0.00004
|
NM_000128.4(F11):c.400C>T (p.Gln134Ter)
|
rs756908183
|
0.00004
|
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)
|
rs104894567
|
0.00004
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)
|
rs1057942
|
0.00004
|
NM_000181.4(GUSB):c.1617C>T (p.Ser539=)
|
rs377519272
|
0.00004
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
NM_000198.4(HSD3B2):c.518T>G (p.Leu173Arg)
|
rs762479018
|
0.00004
|
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp)
|
rs777267343
|
0.00004
|
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)
|
rs371488302
|
0.00004
|
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)
|
rs200457227
|
0.00004
|
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)
|
rs62516151
|
0.00004
|
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)
|
rs62514957
|
0.00004
|
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)
|
rs746610168
|
0.00004
|
NM_000349.3(STAR):c.661G>A (p.Gly221Ser)
|
rs139081695
|
0.00004
|
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)
|
rs200670692
|
0.00004
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_000383.4(AIRE):c.652+1G>T
|
rs199612115
|
0.00004
|
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys)
|
rs121913021
|
0.00004
|
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)
|
rs121913018
|
0.00004
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
0.00004
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00004
|
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)
|
rs61752786
|
0.00004
|
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)
|
rs104894068
|
0.00004
|
NM_000498.3(CYP11B2):c.1398+1G>A
|
rs539836429
|
0.00004
|
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)
|
rs72552758
|
0.00004
|
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)
|
rs376459828
|
0.00004
|
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)
|
rs768563000
|
0.00004
|
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys)
|
rs764485070
|
0.00004
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs)
|
rs779723153
|
0.00004
|
NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)
|
rs281865424
|
0.00004
|
NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter)
|
rs780433845
|
0.00004
|
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile)
|
rs118204008
|
0.00004
|
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)
|
rs755350165
|
0.00004
|
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter)
|
rs770749420
|
0.00004
|
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)
|
rs776838028
|
0.00004
|
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)
|
rs139322149
|
0.00004
|
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val)
|
rs140551719
|
0.00004
|
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)
|
rs28931569
|
0.00004
|
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter)
|
rs200763627
|
0.00004
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00004
|
NM_001142800.2(EYS):c.3878-2A>G
|
rs752930400
|
0.00004
|
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)
|
rs121908979
|
0.00004
|
NM_001252024.2(TRPM1):c.2543C>T (p.Ala848Val)
|
rs180869804
|
0.00004
|
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met)
|
rs200090033
|
0.00004
|
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser)
|
rs770689762
|
0.00004
|
NM_001292063.2(OTOG):c.3457C>T (p.Arg1153Ter)
|
rs772430523
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)
|
rs80338857
|
0.00004
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter)
|
rs149808404
|
0.00004
|
NM_001371986.1(UNC80):c.298+2T>C
|
rs143612678
|
0.00004
|
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)
|
rs751804613
|
0.00004
|
NM_001378609.3(OTOGL):c.3213+1G>A
|
rs370730786
|
0.00004
|
NM_001378609.3(OTOGL):c.63del (p.Leu22fs)
|
rs376104832
|
0.00004
|
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter)
|
rs755097302
|
0.00004
|
NM_001673.5(ASNS):c.1211G>A (p.Arg404His)
|
rs774808316
|
0.00004
|
NM_001735.3(C5):c.4679-2A>G
|
rs191466386
|
0.00004
|
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter)
|
rs777181377
|
0.00004
|
NM_002204.4(ITGA3):c.2623C>T (p.Arg875Ter)
|
rs200810866
|
0.00004
|
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)
|
rs371427844
|
0.00004
|
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val)
|
rs766548165
|
0.00004
|
NM_003041.4(SLC5A2):c.1280+1G>A
|
rs554372141
|
0.00004
|
NM_003052.5(SLC34A1):c.73C>T (p.Arg25Ter)
|
rs200893951
|
0.00004
|
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)
|
rs376078668
|
0.00004
|
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp)
|
rs770886420
|
0.00004
|
NM_003982.4(SLC7A7):c.377del (p.Ile126fs)
|
rs774080549
|
0.00004
|
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter)
|
rs756436580
|
0.00004
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00004
|
NM_005476.7(GNE):c.647T>C (p.Val216Ala)
|
rs779694939
|
0.00004
|
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=)
|
rs367585605
|
0.00004
|
NM_005989.4(AKR1D1):c.864del (p.Ser290fs)
|
rs759908186
|
0.00004
|
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys)
|
rs71532863
|
0.00004
|
NM_006005.3(WFS1):c.2293del (p.Cys765fs)
|
rs1381011685
|
0.00004
|
NM_006767.4(LZTR1):c.1943-1G>A
|
rs1189015572
|
0.00004
|
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)
|
rs121913659
|
0.00004
|
NM_007262.5(PARK7):c.471_473del (p.Pro158del)
|
rs764877312
|
0.00004
|
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp)
|
rs748152539
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_014956.5(CEP164):c.1669dup (p.Glu557fs)
|
rs749114363
|
0.00004
|
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)
|
rs562932233
|
0.00004
|
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter)
|
rs149195472
|
0.00004
|
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)
|
rs1277577195
|
0.00004
|
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs)
|
rs1270302810
|
0.00004
|
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln)
|
rs368053088
|
0.00004
|
NM_016239.4(MYO15A):c.9517+2T>C
|
rs1322423998
|
0.00004
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)
|
rs752866557
|
0.00004
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr)
|
rs372993798
|
0.00004
|
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His)
|
rs145999922
|
0.00004
|
NM_031433.4(MFRP):c.1615C>T (p.Arg539Cys)
|
rs374823079
|
0.00004
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00004
|
NM_144585.4(SLC22A12):c.650C>T (p.Thr217Met)
|
rs121907893
|
0.00004
|
NM_145038.5(DRC1):c.1599+1G>A
|
rs146412095
|
0.00004
|
NM_152384.3(BBS5):c.143-1G>C
|
rs1054138918
|
0.00004
|
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)
|
rs116733939
|
0.00004
|
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile)
|
rs761558985
|
0.00004
|
NM_153240.5(NPHP3):c.2851C>T (p.Arg951Ter)
|
rs148670389
|
0.00004
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00004
|
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)
|
rs200320892
|
0.00004
|
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser)
|
rs28940269
|
0.00004
|
NM_182476.3(COQ6):c.349C>T (p.Arg117Ter)
|
rs376848848
|
0.00004
|
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter)
|
rs370699359
|
0.00004
|
NM_203395.3(IYD):c.301C>T (p.Arg101Trp)
|
rs121918138
|
0.00004
|
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys)
|
rs368675850
|
0.00004
|
NM_207361.6(FREM2):c.5162dup (p.Phe1722fs)
|
rs769926034
|
0.00004
|
NR_003051.3(RMRP):n.64C>T
|
rs786204684
|
0.00004
|
NM_000019.4(ACAT1):c.951C>T (p.Asp317=)
|
rs747714452
|
0.00003
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000027.4(AGA):c.677G>A (p.Gly226Asp)
|
rs386833431
|
0.00003
|
NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)
|
rs140549609
|
0.00003
|
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile)
|
rs541408630
|
0.00003
|
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp)
|
rs746485916
|
0.00003
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
NM_000057.4(BLM):c.98+1G>C
|
rs750293380
|
0.00003
|
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)
|
rs769080151
|
0.00003
|
NM_000083.3(CLCN1):c.1013G>A (p.Arg338Gln)
|
rs80356703
|
0.00003
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
NM_000092.5(COL4A4):c.3451G>A (p.Gly1151Arg)
|
rs899227425
|
0.00003
|
NM_000094.4(COL7A1):c.5499C>T (p.Gly1833=)
|
rs758886532
|
0.00003
|
NM_000102.4(CYP17A1):c.660G>A (p.Trp220Ter)
|
rs879802265
|
0.00003
|
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)
|
rs778865255
|
0.00003
|
NM_000128.4(F11):c.3G>T (p.Met1Ile)
|
rs755700350
|
0.00003
|
NM_000138.5(FBN1):c.442+1G>A
|
rs868403743
|
0.00003
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
0.00003
|
NM_000157.4(GBA1):c.762-1G>C
|
rs1237637353
|
0.00003
|
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)
|
rs188269735
|
0.00003
|
NM_000229.2(LCAT):c.367C>T (p.Arg123Cys)
|
rs140068549
|
0.00003
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)
|
rs377515417
|
0.00003
|
NM_000277.3(PAH):c.916A>G (p.Ile306Val)
|
rs62642934
|
0.00003
|
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)
|
rs62641232
|
0.00003
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
NM_000349.3(STAR):c.824T>C (p.Leu275Pro)
|
rs762245736
|
0.00003
|
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)
|
rs61750564
|
0.00003
|
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)
|
rs72547571
|
0.00003
|
NM_000426.4(LAMA2):c.2451-2A>G
|
rs993196576
|
0.00003
|
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)
|
rs757820624
|
0.00003
|
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)
|
rs542620119
|
0.00003
|
NM_000448.3(RAG1):c.1303A>G (p.Met435Val)
|
rs141524540
|
0.00003
|
NM_000453.3(SLC5A5):c.799C>G (p.Gln267Glu)
|
rs121909176
|
0.00003
|
NM_000478.6(ALPL):c.1120G>A (p.Val374Met)
|
rs552831415
|
0.00003
|
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys)
|
rs121918017
|
0.00003
|
NM_000497.4(CYP11B1):c.890C>T (p.Ala297Val)
|
rs375892072
|
0.00003
|
NM_000498.3(CYP11B2):c.953C>T (p.Thr318Met)
|
rs765921219
|
0.00003
|
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)
|
rs267607196
|
0.00003
|
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)
|
rs774723292
|
0.00003
|
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg)
|
rs120074122
|
0.00003
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
NM_000709.4(BCKDHA):c.370C>T (p.Arg124Trp)
|
rs398123499
|
0.00003
|
NM_000785.4(CYP27B1):c.1474C>T (p.Arg492Trp)
|
rs749537609
|
0.00003
|
NM_001003841.3(SLC6A19):c.774+1G>A
|
rs554777392
|
0.00003
|
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)
|
rs137853859
|
0.00003
|
NM_001041.4(SI):c.4825C>T (p.Arg1609Ter)
|
rs200328403
|
0.00003
|
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)
|
rs587782228
|
0.00003
|
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)
|
rs374417889
|
0.00003
|
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)
|
rs1491132258
|
0.00003
|
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)
|
rs568513106
|
0.00003
|
NM_001128159.3(VPS53):c.1312_1313+2del
|
rs768997239
|
0.00003
|
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)
|
rs763028732
|
0.00003
|
NM_001164508.2(NEB):c.18472-1G>C
|
rs1203257517
|
0.00003
|
NM_001171.6(ABCC6):c.3703C>T (p.Arg1235Trp)
|
rs63750402
|
0.00003
|
NM_001171613.2(PREPL):c.888+1G>A
|
rs758019788
|
0.00003
|
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)
|
rs755459875
|
0.00003
|
NM_001177316.2(SLC34A3):c.449-1G>C
|
rs1345816189
|
0.00003
|
NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln)
|
rs140124953
|
0.00003
|
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg)
|
rs556552435
|
0.00003
|
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)
|
rs139228801
|
0.00003
|
NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter)
|
rs542074139
|
0.00003
|
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter)
|
rs758395213
|
0.00003
|
NM_001283009.2(RTEL1):c.396-26C>T
|
rs80224512
|
0.00003
|
NM_001297.5(CNGB1):c.1210-2A>G
|
rs373232101
|
0.00003
|
NM_001358921.2(COQ2):c.440G>A (p.Arg147His)
|
rs121918231
|
0.00003
|
NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs)
|
rs1318653026
|
0.00003
|
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232
|
0.00003
|
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)
|
rs1032242817
|
0.00003
|
NM_001369.3(DNAH5):c.46C>T (p.Arg16Ter)
|
rs772230378
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter)
|
rs724159971
|
0.00003
|
NM_001378454.1(ALMS1):c.11669-2A>G
|
rs952110960
|
0.00003
|
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)
|
rs758195453
|
0.00003
|
NM_002016.2(FLG):c.138+1G>C
|
rs756254959
|
0.00003
|
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter)
|
rs121909626
|
0.00003
|
NM_002225.5(IVD):c.1175G>A (p.Arg392His)
|
rs982218848
|
0.00003
|
NM_002435.3(MPI):c.305C>T (p.Ser102Leu)
|
rs104894494
|
0.00003
|
NM_002435.3(MPI):c.884G>A (p.Arg295His)
|
rs28928906
|
0.00003
|
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)
|
rs201732356
|
0.00003
|
NM_002778.4(PSAP):c.679_681del (p.Lys227del)
|
rs1431844269
|
0.00003
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)
|
rs121908687
|
0.00003
|
NM_003907.3(EIF2B5):c.944G>A (p.Arg315His)
|
rs113994064
|
0.00003
|
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter)
|
rs386833807
|
0.00003
|
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)
|
rs377686388
|
0.00003
|
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)
|
rs751821289
|
0.00003
|
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)
|
rs767795266
|
0.00003
|
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro)
|
rs143649022
|
0.00003
|
NM_004752.4(GCM2):c.187G>A (p.Gly63Ser)
|
rs104893960
|
0.00003
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)
|
rs766665118
|
0.00003
|
NM_005912.3(MC4R):c.750_751del (p.Ile251fs)
|
rs13447339
|
0.00003
|
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)
|
rs397515411
|
0.00003
|
NM_006383.4(CIB2):c.300_309del (p.Glu100fs)
|
rs765741202
|
0.00003
|
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)
|
rs79833450
|
0.00003
|
NM_012210.4(TRIM32):c.1771G>A (p.Val591Met)
|
rs753866301
|
0.00003
|
NM_013335.4(GMPPA):c.1096C>T (p.Arg366Ter)
|
rs770582052
|
0.00003
|
NM_014251.3(SLC25A13):c.127C>T (p.Arg43Ter)
|
rs780525233
|
0.00003
|
NM_014714.4(IFT140):c.1901+1G>T
|
rs375910993
|
0.00003
|
NM_014967.5(FAN1):c.1899del (p.Cys633fs)
|
rs761988851
|
0.00003
|
NM_014967.5(FAN1):c.2264del (p.Glu755fs)
|
rs756840415
|
0.00003
|
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)
|
rs758275952
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1244-1G>T
|
rs1306595038
|
0.00003
|
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser)
|
rs515726196
|
0.00003
|
NM_018344.6(SLC29A3):c.971C>T (p.Pro324Leu)
|
rs758201217
|
0.00003
|
NM_018451.5(CENPJ):c.40C>T (p.Gln14Ter)
|
rs201822162
|
0.00003
|
NM_020041.3(SLC2A9):c.224T>G (p.Leu75Arg)
|
rs863225072
|
0.00003
|
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)
|
rs772887102
|
0.00003
|
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs)
|
rs1252623454
|
0.00003
|
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)
|
rs1344509500
|
0.00003
|
NM_022356.4(P3H1):c.2055+18G>A
|
rs137853890
|
0.00003
|
NM_024079.5(ALG8):c.673+4A>G
|
rs1470636347
|
0.00003
|
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr)
|
rs200116631
|
0.00003
|
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)
|
rs995629797
|
0.00003
|
NM_024753.5(TTC21B):c.2758-2A>G
|
rs766132877
|
0.00003
|
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs)
|
rs748930384
|
0.00003
|
NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs)
|
rs951347128
|
0.00003
|
NM_138413.4(HOGA1):c.812G>A (p.Arg271His)
|
rs750974539
|
0.00003
|
NM_138413.4(HOGA1):c.907C>T (p.Arg303Cys)
|
rs149150736
|
0.00003
|
NM_138694.4(PKHD1):c.11611T>C (p.Trp3871Arg)
|
rs754626014
|
0.00003
|
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)
|
rs779050294
|
0.00003
|
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)
|
rs142107837
|
0.00003
|
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn)
|
rs140614802
|
0.00003
|
NM_153766.3(KCNJ1):c.272C>T (p.Pro91Leu)
|
rs373745258
|
0.00003
|
NM_153766.3(KCNJ1):c.955C>T (p.Arg319Ter)
|
rs377205432
|
0.00003
|
NM_172250.3(MMAA):c.658G>A (p.Val220Met)
|
rs150376474
|
0.00003
|
NM_176824.3(BBS7):c.1654dup (p.Thr552fs)
|
rs773052355
|
0.00003
|
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
|
rs1342455785
|
0.00003
|
NM_207346.3(TSEN54):c.1039A>T (p.Lys347Ter)
|
rs143604970
|
0.00003
|
NM_000016.6(ACADM):c.601del (p.Tyr201fs)
|
rs772650083
|
0.00002
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
NM_000019.4(ACAT1):c.547G>A (p.Gly183Arg)
|
rs120074141
|
0.00002
|
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp)
|
rs779323689
|
0.00002
|
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val)
|
rs371840514
|
0.00002
|
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val)
|
rs749085322
|
0.00002
|
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser)
|
rs755528878
|
0.00002
|
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg)
|
rs757341933
|
0.00002
|
NM_000091.5(COL4A3):c.2535del (p.Leu846fs)
|
rs993103826
|
0.00002
|
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser)
|
rs762139460
|
0.00002
|
NM_000094.4(COL7A1):c.7104+1G>A
|
rs772756089
|
0.00002
|
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter)
|
rs754386565
|
0.00002
|
NM_000103.4(CYP19A1):c.297-1G>C
|
rs768157788
|
0.00002
|
NM_000135.4(FANCA):c.1777-1G>C
|
rs755104393
|
0.00002
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000156.6(GAMT):c.403G>A (p.Asp135Asn)
|
rs774144200
|
0.00002
|
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)
|
rs1264734195
|
0.00002
|
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)
|
rs779315456
|
0.00002
|
NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)
|
rs756730335
|
0.00002
|
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)
|
rs17221854
|
0.00002
|
NM_000255.4(MMUT):c.1880A>G (p.His627Arg)
|
rs372486357
|
0.00002
|
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)
|
rs965316043
|
0.00002
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000277.3(PAH):c.283A>T (p.Ile95Phe)
|
rs62508682
|
0.00002
|
NM_000311.5(PRNP):c.628G>A (p.Val210Ile)
|
rs74315407
|
0.00002
|
NM_000312.4(PROC):c.169C>T (p.Arg57Trp)
|
rs757583846
|
0.00002
|
NM_000313.4(PROS1):c.200A>C (p.Glu67Ala)
|
rs766423432
|
0.00002
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp)
|
rs121434246
|
0.00002
|
NM_000370.3(TTPA):c.552G>A (p.Thr184=)
|
rs181109321
|
0.00002
|
NM_000372.5(TYR):c.1037-1G>A
|
rs61754382
|
0.00002
|
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr)
|
rs199919553
|
0.00002
|
NM_000410.4(HFE):c.546_547del (p.Leu183fs)
|
rs765804978
|
0.00002
|
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs)
|
rs749566145
|
0.00002
|
NM_000431.4(MVK):c.830G>A (p.Arg277His)
|
rs104895352
|
0.00002
|
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg)
|
rs104894326
|
0.00002
|
NM_000486.6(AQP2):c.360+1G>A
|
rs745861885
|
0.00002
|
NM_000528.4(MAN2B1):c.1026+2T>G
|
rs369099686
|
0.00002
|
NM_000540.3(RYR1):c.14173-2A>G
|
rs1189024951
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000540.3(RYR1):c.4674dup (p.Asn1559fs)
|
rs759632485
|
0.00002
|
NM_000574.5(CD55):c.286+2T>G
|
rs752360687
|
0.00002
|
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp)
|
rs121912699
|
0.00002
|
NM_000709.4(BCKDHA):c.659C>T (p.Ala220Val)
|
rs375785084
|
0.00002
|
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)
|
rs533885672
|
0.00002
|
NM_001042413.2(GLIS3):c.94C>T (p.Arg32Ter)
|
rs753993867
|
0.00002
|
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp)
|
rs398124244
|
0.00002
|
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter)
|
rs756614749
|
0.00002
|
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter)
|
rs370038232
|
0.00002
|
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter)
|
rs1432325198
|
0.00002
|
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs)
|
rs773847168
|
0.00002
|
NM_001126108.2(SLC12A3):c.2721-1G>A
|
rs761242621
|
0.00002
|
NM_001128178.3(NPHP1):c.729-2A>G
|
rs773781058
|
0.00002
|
NM_001130987.2(DYSF):c.1149+1G>A
|
rs398123763
|
0.00002
|
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)
|
rs761732432
|
0.00002
|
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs)
|
rs759593846
|
0.00002
|
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)
|
rs868349465
|
0.00002
|
NM_001171.6(ABCC6):c.3661C>T (p.Arg1221Cys)
|
rs63751215
|
0.00002
|
NM_001171.6(ABCC6):c.3883-6G>A
|
rs72664214
|
0.00002
|
NM_001243279.3(ACSF3):c.1608G>A (p.Trp536Ter)
|
rs201954387
|
0.00002
|
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)
|
rs745376275
|
0.00002
|
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)
|
rs1179247052
|
0.00002
|
NM_001297.5(CNGB1):c.217+5G>C
|
rs527236060
|
0.00002
|
NM_001369.3(DNAH5):c.5290T>C (p.Ser1764Pro)
|
rs748763552
|
0.00002
|
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter)
|
rs750126005
|
0.00002
|
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
|
rs760676442
|
0.00002
|
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp)
|
rs200444162
|
0.00002
|
NM_001927.4(DES):c.1288+1G>A
|
rs112224037
|
0.00002
|
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)
|
rs759641927
|
0.00002
|
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)
|
rs747273828
|
0.00002
|
NM_002454.3(MTRR):c.166G>A (p.Val56Met)
|
rs761061866
|
0.00002
|
NM_002662.5(PLD1):c.2543+1G>T
|
rs779667018
|
0.00002
|
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)
|
rs750621215
|
0.00002
|
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp)
|
rs148410166
|
0.00002
|
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter)
|
rs752254977
|
0.00002
|
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)
|
rs201330912
|
0.00002
|
NM_004407.4(DMP1):c.55-1G>C
|
rs587776697
|
0.00002
|
NM_004646.4(NPHS1):c.1219C>T (p.Arg407Trp)
|
rs386833874
|
0.00002
|
NM_005373.3(MPL):c.460T>C (p.Trp154Arg)
|
rs758428763
|
0.00002
|
NM_005609.4(PYGM):c.1768+2T>G
|
rs747513238
|
0.00002
|
NM_005807.6(PRG4):c.3496C>T (p.Arg1166Ter)
|
rs773621375
|
0.00002
|
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)
|
rs121434295
|
0.00002
|
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu)
|
rs372855769
|
0.00002
|
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)
|
rs772421550
|
0.00002
|
NM_012123.4(MTO1):c.1390C>T (p.Arg464Cys)
|
rs1459252796
|
0.00002
|
NM_012203.2(GRHPR):c.735-1G>A
|
rs180177317
|
0.00002
|
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)
|
rs727502855
|
0.00002
|
NM_014639.4(SKIC3):c.1374C>G (p.Tyr458Ter)
|
rs373796916
|
0.00002
|
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)
|
rs764893412
|
0.00002
|
NM_015102.5(NPHP4):c.1357G>T (p.Glu453Ter)
|
rs1210874691
|
0.00002
|
NM_015102.5(NPHP4):c.1585_1586del (p.Gly529fs)
|
rs751662952
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs)
|
rs749987648
|
0.00002
|
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter)
|
rs139804668
|
0.00002
|
NM_015512.5(DNAH1):c.7864C>T (p.Arg2622Ter)
|
rs368033879
|
0.00002
|
NM_015662.3(IFT172):c.402+2T>G
|
rs774548930
|
0.00002
|
NM_015713.5(RRM2B):c.48G>A (p.Glu16=)
|
rs515726180
|
0.00002
|
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys)
|
rs202238194
|
0.00002
|
NM_016356.5(DCDC2):c.942del (p.Gly315fs)
|
rs1554144869
|
0.00002
|
NM_016955.4(SEPSECS):c.389-1G>A
|
rs754373273
|
0.00002
|
NM_017947.4(MOCOS):c.2164+2T>C
|
rs1164875023
|
0.00002
|
NM_018006.5(TRMU):c.249-2A>G
|
rs768299416
|
0.00002
|
NM_018082.6(POLR3B):c.1263+2T>C
|
rs774526181
|
0.00002
|
NM_019109.5(ALG1):c.1188-2A>G
|
rs794727073
|
0.00002
|
NM_019109.5(ALG1):c.841G>T (p.Val281Phe)
|
rs553396382
|
0.00002
|
NM_020166.5(MCCC1):c.137-2A>G
|
rs727504006
|
0.00002
|
NM_020166.5(MCCC1):c.639+5G>T
|
rs768630906
|
0.00002
|
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)
|
rs185741664
|
0.00002
|
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)
|
rs118203956
|
0.00002
|
NM_020812.4(DOCK6):c.4012C>T (p.Arg1338Ter)
|
rs775397068
|
0.00002
|
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)
|
rs141030969
|
0.00002
|
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)
|
rs770711331
|
0.00002
|
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)
|
rs372632599
|
0.00002
|
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)
|
rs80338925
|
0.00002
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)
|
rs1460517643
|
0.00002
|
NM_024741.3(ZNF408):c.1621C>T (p.Arg541Cys)
|
rs781192528
|
0.00002
|
NM_024753.5(TTC21B):c.1386+1G>T
|
rs764514397
|
0.00002
|
NM_024753.5(TTC21B):c.2482dup (p.Met828fs)
|
rs906032090
|
0.00002
|
NM_025099.6(CTC1):c.2758+1G>T
|
rs200609323
|
0.00002
|
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter)
|
rs762739726
|
0.00002
|
NM_033028.5(BBS4):c.1375C>T (p.Gln459Ter)
|
rs914062190
|
0.00002
|
NM_033380.3(COL4A5):c.231+2T>C
|
rs763538451
|
0.00002
|
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)
|
rs398124434
|
0.00002
|
NM_052989.3(IFT122):c.1148-1G>C
|
rs755005244
|
0.00002
|
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)
|
rs911722283
|
0.00002
|
NM_080860.4(RSPH1):c.196C>T (p.Arg66Ter)
|
rs753105954
|
0.00002
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00002
|
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn)
|
rs774290802
|
0.00002
|
NM_144773.4(PROKR2):c.563C>T (p.Ser188Leu)
|
rs376239580
|
0.00002
|
NM_145207.3(AFG2A):c.1540C>T (p.Arg514Ter)
|
rs1446807404
|
0.00002
|
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter)
|
rs748875458
|
0.00002
|
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)
|
rs201237799
|
0.00002
|
NM_153240.5(NPHP3):c.3775C>T (p.Arg1259Ter)
|
rs758716466
|
0.00002
|
NM_153766.3(KCNJ1):c.584C>T (p.Ala195Val)
|
rs104894246
|
0.00002
|
NM_173483.4(CYP4F22):c.1114C>T (p.Arg372Trp)
|
rs201129618
|
0.00002
|
NM_178170.3(NEK8):c.889+1G>T
|
rs780247729
|
0.00002
|
NM_181507.2(HPS5):c.1862+1G>A
|
rs778500897
|
0.00002
|
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)
|
rs111033405
|
0.00002
|
NM_194248.3(OTOF):c.4747C>T (p.Arg1583Cys)
|
rs781688103
|
0.00002
|
NM_207122.2(EXT2):c.1506G>A (p.Trp502Ter)
|
rs753973135
|
0.00002
|
NM_000016.6(ACADM):c.599+1G>A
|
rs866388216
|
0.00001
|
NM_000019.4(ACAT1):c.826+1G>T
|
rs727503796
|
0.00001
|
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)
|
rs120074146
|
0.00001
|
NM_000027.4(AGA):c.404T>C (p.Phe135Ser)
|
rs386833427
|
0.00001
|
NM_000030.3(AGXT):c.107G>A (p.Arg36His)
|
rs180177162
|
0.00001
|
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)
|
rs180177184
|
0.00001
|
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)
|
rs138584408
|
0.00001
|
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)
|
rs180177203
|
0.00001
|
NM_000041.4(APOE):c.127C>T (p.Arg43Cys)
|
rs121918399
|
0.00001
|
NM_000045.4(ARG1):c.372dup (p.Ala125fs)
|
rs776939220
|
0.00001
|
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg)
|
rs397514441
|
0.00001
|
NM_000048.4(ASL):c.566A>G (p.Glu189Gly)
|
rs756363516
|
0.00001
|
NM_000049.4(ASPA):c.2T>C (p.Met1Thr)
|
rs1057516879
|
0.00001
|
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr)
|
rs769653717
|
0.00001
|
NM_000051.4(ATM):c.2251-10T>G
|
rs730881346
|
0.00001
|
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)
|
rs1131691162
|
0.00001
|
NM_000051.4(ATM):c.7629+2T>C
|
rs786203059
|
0.00001
|
NM_000051.4(ATM):c.8615_8616del (p.His2872fs)
|
rs1232259438
|
0.00001
|
NM_000051.4(ATM):c.8786+1G>T
|
rs17174393
|
0.00001
|
NM_000053.4(ATP7B):c.1708-5T>G
|
rs770829226
|
0.00001
|
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)
|
rs374172791
|
0.00001
|
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)
|
rs121907997
|
0.00001
|
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)
|
rs774028495
|
0.00001
|
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg)
|
rs751078884
|
0.00001
|
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser)
|
rs761632029
|
0.00001
|
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)
|
rs1033235740
|
0.00001
|
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp)
|
rs779494870
|
0.00001
|
NM_000054.7(AVPR2):c.604C>T (p.Arg202Cys)
|
rs782806507
|
0.00001
|
NM_000057.4(BLM):c.2823+2T>A
|
rs1896712920
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter)
|
rs767052156
|
0.00001
|
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)
|
rs80338777
|
0.00001
|
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter)
|
rs770073633
|
0.00001
|
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His)
|
rs201627041
|
0.00001
|
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter)
|
rs201998231
|
0.00001
|
NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)
|
rs1345121557
|
0.00001
|
NM_000080.4(CHRNE):c.-96C>T
|
rs748144899
|
0.00001
|
NM_000082.4(ERCC8):c.769G>A (p.Gly257Arg)
|
rs770499406
|
0.00001
|
NM_000091.5(COL4A3):c.1372G>A (p.Gly458Arg)
|
rs757341933
|
0.00001
|
NM_000091.5(COL4A3):c.1468G>C (p.Gly490Arg)
|
rs1256505387
|
0.00001
|
NM_000091.5(COL4A3):c.1669G>A (p.Gly557Arg)
|
rs1457269547
|
0.00001
|
NM_000091.5(COL4A3):c.3210+1G>A
|
rs1553762314
|
0.00001
|
NM_000091.5(COL4A3):c.3683G>T (p.Gly1228Val)
|
rs1183958961
|
0.00001
|
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter)
|
rs1189607438
|
0.00001
|
NM_000091.5(COL4A3):c.949_950del (p.Arg317fs)
|
rs756133651
|
0.00001
|
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu)
|
rs755649235
|
0.00001
|
NM_000092.5(COL4A4):c.1424G>C (p.Gly475Ala)
|
rs1559594442
|
0.00001
|
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser)
|
rs776036994
|
0.00001
|
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu)
|
rs781660254
|
0.00001
|
NM_000092.5(COL4A4):c.3014G>A (p.Gly1005Glu)
|
rs769138971
|
0.00001
|
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs)
|
rs1162601696
|
0.00001
|
NM_000092.5(COL4A4):c.4623C>G (p.Tyr1541Ter)
|
rs891854419
|
0.00001
|
NM_000092.5(COL4A4):c.489+1G>A
|
rs1040287646
|
0.00001
|
NM_000092.5(COL4A4):c.559-2A>G
|
rs766243664
|
0.00001
|
NM_000092.5(COL4A4):c.559-2A>T
|
rs766243664
|
0.00001
|
NM_000092.5(COL4A4):c.614G>T (p.Gly205Val)
|
rs2061040474
|
0.00001
|
NM_000092.5(COL4A4):c.755G>T (p.Gly252Val)
|
rs760795817
|
0.00001
|
NM_000092.5(COL4A4):c.975+1G>A
|
rs1553683192
|
0.00001
|
NM_000094.4(COL7A1):c.565C>T (p.Gln189Ter)
|
rs1486141784
|
0.00001
|
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys)
|
rs121912855
|
0.00001
|
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)
|
rs74315296
|
0.00001
|
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)
|
rs515726177
|
0.00001
|
NM_000098.3(CPT2):c.75del (p.Ser26fs)
|
rs1057517493
|
0.00001
|
NM_000101.4(CYBA):c.70G>A (p.Gly24Arg)
|
rs28941476
|
0.00001
|
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile)
|
rs61754262
|
0.00001
|
NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu)
|
rs529769268
|
0.00001
|
NM_000110.4(DPYD):c.61C>T (p.Arg21Ter)
|
rs72549310
|
0.00001
|
NM_000122.2(ERCC3):c.1162C>T (p.Gln388Ter)
|
rs1055129064
|
0.00001
|
NM_000123.4(ERCC5):c.673-2A>G
|
rs756420203
|
0.00001
|
NM_000128.4(F11):c.1432G>A (p.Gly478Arg)
|
rs542967227
|
0.00001
|
NM_000133.4(F9):c.224G>A (p.Arg75Gln)
|
rs137852228
|
0.00001
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)
|
rs780825099
|
0.00001
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)
|
rs1374769712
|
0.00001
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)
|
rs1384166265
|
0.00001
|
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)
|
rs944083227
|
0.00001
|
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)
|
rs1057516291
|
0.00001
|
NM_000136.3(FANCC):c.522-1G>C
|
rs1014112491
|
0.00001
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
NM_000143.4(FH):c.700A>G (p.Thr234Ala)
|
rs372505976
|
0.00001
|
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)
|
rs104894563
|
0.00001
|
NM_000152.5(GAA):c.2189+1G>T
|
rs1209887739
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
NM_000153.4(GALC):c.621+1G>A
|
rs759511006
|
0.00001
|
NM_000153.4(GALC):c.908C>T (p.Ser303Phe)
|
rs756352952
|
0.00001
|
NM_000156.6(GAMT):c.407C>T (p.Thr136Met)
|
rs374724533
|
0.00001
|
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)
|
rs76539814
|
0.00001
|
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg)
|
rs121908305
|
0.00001
|
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr)
|
rs794727908
|
0.00001
|
NM_000159.4(GCDH):c.157C>T (p.Pro53Ser)
|
rs768532620
|
0.00001
|
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln)
|
rs755586631
|
0.00001
|
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln)
|
rs200639270
|
0.00001
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)
|
rs758503371
|
0.00001
|
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)
|
rs797044776
|
0.00001
|
NM_000170.3(GLDC):c.1401+1G>A
|
rs1211616091
|
0.00001
|
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)
|
rs1275684568
|
0.00001
|
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met)
|
rs781570584
|
0.00001
|
NM_000179.3(MSH6):c.3801+1G>T
|
rs876660943
|
0.00001
|
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys)
|
rs121918173
|
0.00001
|
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp)
|
rs121918174
|
0.00001
|
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys)
|
rs771028541
|
0.00001
|
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)
|
rs757785149
|
0.00001
|
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)
|
rs460184
|
0.00001
|
NM_000187.4(HGD):c.291G>A (p.Trp97Ter)
|
rs766714128
|
0.00001
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000195.5(HPS1):c.1744-2A>C
|
rs281865088
|
0.00001
|
NM_000196.4(HSD11B2):c.1010_1012del (p.Arg337_Tyr338delinsHis)
|
rs397509434
|
0.00001
|
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu)
|
rs28934880
|
0.00001
|
NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter)
|
rs1424242431
|
0.00001
|
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser)
|
rs1555620214
|
0.00001
|
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)
|
rs529855742
|
0.00001
|
NM_000199.5(SGSH):c.571G>A (p.Gly191Arg)
|
rs753666460
|
0.00001
|
NM_000199.5(SGSH):c.812C>T (p.Thr271Met)
|
rs746776254
|
0.00001
|
NM_000203.5(IDUA):c.1190-2A>T
|
rs994902207
|
0.00001
|
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)
|
rs754966840
|
0.00001
|
NM_000207.3(INS):c.1A>G (p.Met1Val)
|
rs757124361
|
0.00001
|
NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln)
|
rs121913148
|
0.00001
|
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)
|
rs199472696
|
0.00001
|
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)
|
rs199472702
|
0.00001
|
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp)
|
rs199472726
|
0.00001
|
NM_000229.2(LCAT):c.110C>T (p.Thr37Met)
|
rs971887742
|
0.00001
|
NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter)
|
rs121912523
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1810C>T
|
rs972201049
|
0.00001
|
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr)
|
rs199472910
|
0.00001
|
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000255.4(MMUT):c.1084-2A>G
|
rs879253839
|
0.00001
|
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu)
|
rs769348060
|
0.00001
|
NM_000255.4(MMUT):c.581C>T (p.Pro194Leu)
|
rs1254433398
|
0.00001
|
NM_000255.4(MMUT):c.654A>C (p.Gln218His)
|
rs1446389693
|
0.00001
|
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)
|
rs796052002
|
0.00001
|
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)
|
rs368765949
|
0.00001
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
|
rs397516201
|
0.00001
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)
|
rs397516209
|
0.00001
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
NM_000260.4(MYO7A):c.1190C>A (p.Ala397Asp)
|
rs1555067667
|
0.00001
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser)
|
rs781988557
|
0.00001
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)
|
rs120074135
|
0.00001
|
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys)
|
rs781261962
|
0.00001
|
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)
|
rs28942107
|
0.00001
|
NM_000274.4(OAT):c.800C>T (p.Thr267Ile)
|
rs386833618
|
0.00001
|
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr)
|
rs776814755
|
0.00001
|
NM_000275.3(OCA2):c.807+1G>T
|
rs763219039
|
0.00001
|
NM_000275.3(OCA2):c.868A>G (p.Arg290Gly)
|
rs769408559
|
0.00001
|
NM_000277.3(PAH):c.1259G>T (p.Arg420Met)
|
rs767075719
|
0.00001
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
0.00001
|
NM_000277.3(PAH):c.442-5C>G
|
rs62514909
|
0.00001
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
0.00001
|
NM_000278.5(PAX2):c.616+5648T>C
|
rs747453876
|
0.00001
|
NM_000281.4(PCBD1):c.244T>C (p.Cys82Arg)
|
rs104894177
|
0.00001
|
NM_000283.4(PDE6B):c.1624C>T (p.Arg542Trp)
|
rs760042062
|
0.00001
|
NM_000303.3(PMM2):c.323C>T (p.Ala108Val)
|
rs200503569
|
0.00001
|
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)
|
rs760265100
|
0.00001
|
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser)
|
rs532870929
|
0.00001
|
NM_000303.3(PMM2):c.66+1G>T
|
rs937726878
|
0.00001
|
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)
|
rs149530060
|
0.00001
|
NM_000312.4(PROC):c.124C>T (p.Arg42Cys)
|
rs774572099
|
0.00001
|
NM_000313.4(PROS1):c.1064G>A (p.Arg355His)
|
rs780863931
|
0.00001
|
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)
|
rs1317230624
|
0.00001
|
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)
|
rs527236148
|
0.00001
|
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)
|
rs199473282
|
0.00001
|
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)
|
rs137854604
|
0.00001
|
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg)
|
rs199473305
|
0.00001
|
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln)
|
rs780619649
|
0.00001
|
NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs)
|
rs777149216
|
0.00001
|
NM_000341.4(SLC3A1):c.766-2A>C
|
rs201376169
|
0.00001
|
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)
|
rs28931584
|
0.00001
|
NM_000349.3(STAR):c.559G>A (p.Val187Met)
|
rs104894089
|
0.00001
|
NM_000349.3(STAR):c.779T>C (p.Leu260Pro)
|
rs551783234
|
0.00001
|
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)
|
rs61748558
|
0.00001
|
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)
|
rs61749420
|
0.00001
|
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
|
rs61750146
|
0.00001
|
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)
|
rs371489809
|
0.00001
|
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)
|
rs61748520
|
0.00001
|
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)
|
rs61748538
|
0.00001
|
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)
|
rs760062120
|
0.00001
|
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)
|
rs797045209
|
0.00001
|
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)
|
rs193922402
|
0.00001
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)
|
rs72559730
|
0.00001
|
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)
|
rs769569410
|
0.00001
|
NM_000353.3(TAT):c.889C>T (p.Arg297Ter)
|
rs758491525
|
0.00001
|
NM_000359.3(TGM1):c.1417G>A (p.Gly473Ser)
|
rs904122716
|
0.00001
|
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter)
|
rs397514522
|
0.00001
|
NM_000360.4(TH):c.614T>C (p.Leu205Pro)
|
rs121917763
|
0.00001
|
NM_000360.4(TH):c.646G>A (p.Gly216Ser)
|
rs762304556
|
0.00001
|
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
|
rs104894727
|
0.00001
|
NM_000369.5(TSHR):c.1170T>G (p.Cys390Trp)
|
rs121908871
|
0.00001
|
NM_000379.4(XDH):c.2198-2A>C
|
rs1281159761
|
0.00001
|
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs)
|
rs763695515
|
0.00001
|
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser)
|
rs193922418
|
0.00001
|
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro)
|
rs179363878
|
0.00001
|
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu)
|
rs179363885
|
0.00001
|
NM_000384.3(APOB):c.1672C>T (p.Arg558Ter)
|
rs878853970
|
0.00001
|
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser)
|
rs140022350
|
0.00001
|
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)
|
rs764256845
|
0.00001
|
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly)
|
rs121965018
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000404.4(GLB1):c.443G>A (p.Arg148His)
|
rs745864233
|
0.00001
|
NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys)
|
rs28933074
|
0.00001
|
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)
|
rs766199971
|
0.00001
|
NM_000426.4(LAMA2):c.8244+1G>A
|
rs749522728
|
0.00001
|
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter)
|
rs1463264889
|
0.00001
|
NM_000431.4(MVK):c.613A>G (p.Asn205Asp)
|
rs104895364
|
0.00001
|
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)
|
rs775267348
|
0.00001
|
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)
|
rs111033454
|
0.00001
|
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
NM_000478.6(ALPL):c.1130C>T (p.Ala377Val)
|
rs756418235
|
0.00001
|
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val)
|
rs772682471
|
0.00001
|
NM_000478.6(ALPL):c.283G>A (p.Val95Met)
|
rs139811782
|
0.00001
|
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys)
|
rs200621180
|
0.00001
|
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu)
|
rs199590449
|
0.00001
|
NM_000478.6(ALPL):c.791A>G (p.Lys264Arg)
|
rs786204442
|
0.00001
|
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)
|
rs781466698
|
0.00001
|
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)
|
rs766422988
|
0.00001
|
NM_000486.6(AQP2):c.377C>T (p.Thr126Met)
|
rs104894330
|
0.00001
|
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)
|
rs121908758
|
0.00001
|
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)
|
rs397508464
|
0.00001
|
NM_000497.4(CYP11B1):c.1151G>A (p.Arg384Gln)
|
rs764598023
|
0.00001
|
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)
|
rs104894069
|
0.00001
|
NM_000497.4(CYP11B1):c.1331G>A (p.Gly444Asp)
|
rs779103938
|
0.00001
|
NM_000498.3(CYP11B2):c.1200+1G>A
|
rs761385416
|
0.00001
|
NM_000498.3(CYP11B2):c.682G>T (p.Glu228Ter)
|
rs1817612031
|
0.00001
|
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter)
|
rs200164773
|
0.00001
|
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)
|
rs118204441
|
0.00001
|
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu)
|
rs1308500116
|
0.00001
|
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)
|
rs121907972
|
0.00001
|
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter)
|
rs751393950
|
0.00001
|
NM_000521.4(HEXB):c.1598G>A (p.Arg533His)
|
rs1291555996
|
0.00001
|
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)
|
rs141145502
|
0.00001
|
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys)
|
rs766891274
|
0.00001
|
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)
|
rs780957825
|
0.00001
|
NM_000527.5(LDLR):c.1060+2T>G
|
rs774069731
|
0.00001
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys)
|
rs879254867
|
0.00001
|
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu)
|
rs759876319
|
0.00001
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
NM_000528.4(MAN2B1):c.1528-1G>A
|
rs561991886
|
0.00001
|
NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)
|
rs774791244
|
0.00001
|
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)
|
rs202247822
|
0.00001
|
NM_000535.7(PMS2):c.825A>G (p.Gln275=)
|
rs876659736
|
0.00001
|
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter)
|
rs1434362838
|
0.00001
|
NM_000540.3(RYR1):c.11590+1G>T
|
rs113928116
|
0.00001
|
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs)
|
rs928989953
|
0.00001
|
NM_000540.3(RYR1):c.14129+1G>A
|
rs142929172
|
0.00001
|
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)
|
rs1432807966
|
0.00001
|
NM_000540.3(RYR1):c.4160+1G>A
|
rs113460156
|
0.00001
|
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)
|
rs193922781
|
0.00001
|
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys)
|
rs118192174
|
0.00001
|
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr)
|
rs193922809
|
0.00001
|
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)
|
rs28933397
|
0.00001
|
NM_000540.3(RYR1):c.9472+1G>A
|
rs776697656
|
0.00001
|
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter)
|
rs868423827
|
0.00001
|
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)
|
rs749673816
|
0.00001
|
NM_000553.6(WRN):c.1351-1G>A
|
rs1170732591
|
0.00001
|
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)
|
rs763554006
|
0.00001
|
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)
|
rs1057516870
|
0.00001
|
NM_000642.3(AGL):c.2309-2A>G
|
rs1253347170
|
0.00001
|
NM_000642.3(AGL):c.3259+1G>A
|
rs1394576194
|
0.00001
|
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)
|
rs145362161
|
0.00001
|
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His)
|
rs398123486
|
0.00001
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
NM_000709.4(BCKDHA):c.632C>T (p.Thr211Met)
|
rs398123503
|
0.00001
|
NM_000709.4(BCKDHA):c.647C>T (p.Ala216Val)
|
rs369448982
|
0.00001
|
NM_000732.6(CD3D):c.407-2A>G
|
rs1341165259
|
0.00001
|
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp)
|
rs72547508
|
0.00001
|
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys)
|
rs767480544
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2A>T
|
rs1453983744
|
0.00001
|
NM_001005242.3(PKP2):c.533dup (p.His179fs)
|
rs769220833
|
0.00001
|
NM_001008216.2(GALE):c.280G>A (p.Val94Met)
|
rs121908047
|
0.00001
|
NM_001008216.2(GALE):c.796-1G>T
|
rs779828095
|
0.00001
|
NM_001009944.3(PKD1):c.11338_11345dup (p.Asp3782fs)
|
rs2091618729
|
0.00001
|
NM_001009944.3(PKD1):c.9202-16G>A
|
rs1389523126
|
0.00001
|
NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln)
|
rs121908007
|
0.00001
|
NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter)
|
rs375857763
|
0.00001
|
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter)
|
rs762813092
|
0.00001
|
NM_001040716.2(PC):c.633+2T>C
|
rs763433647
|
0.00001
|
NM_001077365.2(POMT1):c.986+1G>A
|
rs961071228
|
0.00001
|
NM_001079866.2(BCS1L):c.696del (p.Gly233fs)
|
rs775388576
|
0.00001
|
NM_001079866.2(BCS1L):c.889+1G>T
|
rs1057516346
|
0.00001
|
NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys)
|
rs1197613485
|
0.00001
|
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)
|
rs1280810181
|
0.00001
|
NM_001080442.3(SLC38A8):c.598C>T (p.Gln200Ter)
|
rs149592537
|
0.00001
|
NM_001080476.3(GRXCR1):c.79C>T (p.Arg27Ter)
|
rs769983282
|
0.00001
|
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter)
|
rs145818316
|
0.00001
|
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer)
|
rs386833781
|
0.00001
|
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)
|
rs1461982823
|
0.00001
|
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
|
rs1385885533
|
0.00001
|
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu)
|
rs121909383
|
0.00001
|
NM_001126108.2(SLC12A3):c.1388G>A (p.Gly463Glu)
|
rs1375515522
|
0.00001
|
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn)
|
rs753523115
|
0.00001
|
NM_001126108.2(SLC12A3):c.1485C>A (p.Phe495Leu)
|
rs1297766065
|
0.00001
|
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln)
|
rs369360334
|
0.00001
|
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys)
|
rs749742102
|
0.00001
|
NM_001126108.2(SLC12A3):c.438C>A (p.Cys146Ter)
|
rs751409326
|
0.00001
|
NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe)
|
rs748547209
|
0.00001
|
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu)
|
rs772589653
|
0.00001
|
NM_001127671.2(LIFR):c.478_479del (p.Arg160fs)
|
rs1242667371
|
0.00001
|
NM_001128159.3(VPS53):c.1556+5G>A
|
rs587777466
|
0.00001
|
NM_001128178.3(NPHP1):c.143+1G>C
|
rs745806504
|
0.00001
|
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)
|
rs1311042980
|
0.00001
|
NM_001128178.3(NPHP1):c.329+1G>A
|
rs376974221
|
0.00001
|
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)
|
rs1349732291
|
0.00001
|
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)
|
rs753517219
|
0.00001
|
NM_001130987.2(DYSF):c.4135T>C (p.Cys1379Arg)
|
rs776472879
|
0.00001
|
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)
|
rs1270654737
|
0.00001
|
NM_001136193.2(FASTKD2):c.906G>A (p.Trp302Ter)
|
rs751316870
|
0.00001
|
NM_001142800.2(EYS):c.3970del (p.Leu1324fs)
|
rs1431710414
|
0.00001
|
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)
|
rs1060499783
|
0.00001
|
NM_001142800.2(EYS):c.7970del (p.Asp2657fs)
|
rs1477098845
|
0.00001
|
NM_001142800.2(EYS):c.8168del (p.Gln2723fs)
|
rs1168101857
|
0.00001
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
NM_001164508.2(NEB):c.18891+1G>A
|
rs1443738549
|
0.00001
|
NM_001164508.2(NEB):c.2784del (p.Asp929fs)
|
rs786204430
|
0.00001
|
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val)
|
rs886039456
|
0.00001
|
NM_001173990.3(TMEM216):c.34+2T>C
|
rs1057517498
|
0.00001
|
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg)
|
rs1233324021
|
0.00001
|
NM_001174089.2(SLC4A11):c.1201G>C (p.Gly401Arg)
|
rs1233324021
|
0.00001
|
NM_001177316.2(SLC34A3):c.1242C>A (p.Tyr414Ter)
|
rs949841477
|
0.00001
|
NM_001177316.2(SLC34A3):c.1623G>A (p.Trp541Ter)
|
rs762610288
|
0.00001
|
NM_001177316.2(SLC34A3):c.846+1G>A
|
rs754054340
|
0.00001
|
NM_001182.5(ALDH7A1):c.1565+1G>T
|
rs1064793830
|
0.00001
|
NM_001199397.3(NEK1):c.2588-2A>G
|
rs201769828
|
0.00001
|
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)
|
rs758748280
|
0.00001
|
NM_001232.4(CASQ2):c.939+1G>T
|
rs905985075
|
0.00001
|
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln)
|
rs749547712
|
0.00001
|
NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)
|
rs776995095
|
0.00001
|
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)
|
rs748382994
|
0.00001
|
NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)
|
rs759338401
|
0.00001
|
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)
|
rs1064793560
|
0.00001
|
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter)
|
rs1260821931
|
0.00001
|
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)
|
rs766265889
|
0.00001
|
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)
|
rs794729305
|
0.00001
|
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)
|
rs1483931960
|
0.00001
|
NM_001267550.2(TTN):c.56051-1G>A
|
rs1385817640
|
0.00001
|
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter)
|
rs797044692
|
0.00001
|
NM_001267550.2(TTN):c.67349-2A>C
|
rs753948675
|
0.00001
|
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)
|
rs545954490
|
0.00001
|
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs)
|
rs1205409465
|
0.00001
|
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)
|
rs794729289
|
0.00001
|
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)
|
rs1575649368
|
0.00001
|
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs)
|
rs794729351
|
0.00001
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)
|
rs397516455
|
0.00001
|
NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter)
|
rs377691013
|
0.00001
|
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter)
|
rs961593162
|
0.00001
|
NM_001286577.2(C2CD3):c.1861C>T (p.Arg621Ter)
|
rs750328756
|
0.00001
|
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)
|
rs535561852
|
0.00001
|
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)
|
rs760428437
|
0.00001
|
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln)
|
rs1331331095
|
0.00001
|
NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter)
|
rs756564881
|
0.00001
|
NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter)
|
rs774187452
|
0.00001
|
NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter)
|
rs761810492
|
0.00001
|
NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs)
|
rs770283117
|
0.00001
|
NM_001369.3(DNAH5):c.13774C>T (p.Arg4592Ter)
|
rs758112779
|
0.00001
|
NM_001369.3(DNAH5):c.2224C>T (p.Arg742Ter)
|
rs776686983
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)
|
rs267607235
|
0.00001
|
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter)
|
rs1558649531
|
0.00001
|
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter)
|
rs759024519
|
0.00001
|
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)
|
rs749339938
|
0.00001
|
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter)
|
rs771994237
|
0.00001
|
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)
|
rs761713440
|
0.00001
|
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter)
|
rs989080548
|
0.00001
|
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter)
|
rs956247442
|
0.00001
|
NM_001378609.3(OTOGL):c.1890-1G>T
|
rs777911261
|
0.00001
|
NM_001384474.1(LOXHD1):c.246-2A>G
|
rs763062406
|
0.00001
|
NM_001384479.1(AGT):c.1060C>T
|
rs778806374
|
0.00001
|
NM_001384732.1(CPLANE1):c.1877del (p.Ser626fs)
|
rs1327245073
|
0.00001
|
NM_001384732.1(CPLANE1):c.3673-1G>C
|
rs886041688
|
0.00001
|
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)
|
rs72557954
|
0.00001
|
NM_001673.5(ASNS):c.277C>T (p.Gln93Ter)
|
rs757729851
|
0.00001
|
NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter)
|
rs1572924733
|
0.00001
|
NM_001735.3(C5):c.1407G>A (p.Trp469Ter)
|
rs1408798589
|
0.00001
|
NM_001735.3(C5):c.2257+1G>A
|
rs750416999
|
0.00001
|
NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys)
|
rs375477517
|
0.00001
|
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter)
|
rs1877827904
|
0.00001
|
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp)
|
rs567124920
|
0.00001
|
NM_001927.4(DES):c.634C>T (p.Arg212Ter)
|
rs781590560
|
0.00001
|
NM_001927.4(DES):c.885G>A (p.Trp295Ter)
|
rs146755676
|
0.00001
|
NM_001943.5(DSG2):c.2375_2379dup (p.Asp794fs)
|
rs773328409
|
0.00001
|
NM_001943.5(DSG2):c.523+2T>C
|
rs397516709
|
0.00001
|
NM_002204.4(ITGA3):c.1387C>T (p.Arg463Trp)
|
rs797044989
|
0.00001
|
NM_002225.5(IVD):c.286+2T>C
|
rs748026507
|
0.00001
|
NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val)
|
rs121908592
|
0.00001
|
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)
|
rs138943405
|
0.00001
|
NM_002292.4(LAMB2):c.1564del (p.Cys522fs)
|
rs1377725272
|
0.00001
|
NM_002292.4(LAMB2):c.440A>G (p.His147Arg)
|
rs387906644
|
0.00001
|
NM_002292.4(LAMB2):c.736C>T (p.Arg246Trp)
|
rs121912488
|
0.00001
|
NM_002334.4(LRP4):c.1184-1G>A
|
rs1941502709
|
0.00001
|
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met)
|
rs1398692057
|
0.00001
|
NM_002437.5(MPV17):c.408+1G>A
|
rs749361266
|
0.00001
|
NM_002437.5(MPV17):c.428T>G (p.Leu143Ter)
|
rs763400903
|
0.00001
|
NM_002470.4(MYH3):c.700G>A (p.Ala234Thr)
|
rs121913623
|
0.00001
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu)
|
rs28939679
|
0.00001
|
NM_002528.7(NTHL1):c.685+1G>A
|
rs372946560
|
0.00001
|
NM_002693.3(POLG):c.3104+2T>A
|
rs747632869
|
0.00001
|
NM_003052.5(SLC34A1):c.745C>T (p.Arg249Ter)
|
rs1426432774
|
0.00001
|
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu)
|
rs1178584184
|
0.00001
|
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys)
|
rs121908888
|
0.00001
|
NM_003060.4(SLC22A5):c.688T>C (p.Phe230Leu)
|
rs756650860
|
0.00001
|
NM_003060.4(SLC22A5):c.71del (p.Leu24fs)
|
rs775502377
|
0.00001
|
NM_003060.4(SLC22A5):c.859C>T (p.Gln287Ter)
|
rs931801909
|
0.00001
|
NM_003119.4(SPG7):c.376+1G>T
|
rs746053679
|
0.00001
|
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)
|
rs782021521
|
0.00001
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
NM_003401.5(XRCC4):c.628A>T (p.Lys210Ter)
|
rs991596636
|
0.00001
|
NM_003560.4(PLA2G6):c.1427+1G>A
|
rs750939090
|
0.00001
|
NM_003640.5(ELP1):c.1361-1G>T
|
rs372225464
|
0.00001
|
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)
|
rs761911009
|
0.00001
|
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter)
|
rs762224071
|
0.00001
|
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)
|
rs104894655
|
0.00001
|
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter)
|
rs141019458
|
0.00001
|
NM_003748.4(ALDH4A1):c.139C>T (p.Arg47Ter)
|
rs756807746
|
0.00001
|
NM_003982.4(SLC7A7):c.1147_1151dup (p.Tyr384Ter)
|
rs386833798
|
0.00001
|
NM_003982.4(SLC7A7):c.1244_1245insTTAC (p.Lys415fs)
|
rs752263234
|
0.00001
|
NM_003982.4(SLC7A7):c.1383_1384del (p.Ile461fs)
|
rs1355745932
|
0.00001
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
NM_004004.6(GJB2):c.583A>G (p.Met195Val)
|
rs532203068
|
0.00001
|
NM_004006.3(DMD):c.6763-2A>G
|
rs398124033
|
0.00001
|
NM_004130.4(GYG1):c.970C>T (p.Arg324Ter)
|
rs727502869
|
0.00001
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
NM_004168.4(SDHA):c.1663+1G>T
|
rs766667009
|
0.00001
|
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)
|
rs1561703331
|
0.00001
|
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)
|
rs1464253797
|
0.00001
|
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)
|
rs779253471
|
0.00001
|
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)
|
rs200920510
|
0.00001
|
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)
|
rs779896449
|
0.00001
|
NM_004525.3(LRP2):c.3667+1G>A
|
rs752197557
|
0.00001
|
NM_004553.6(NDUFS6):c.309+5G>A
|
rs763535523
|
0.00001
|
NM_004560.4(ROR2):c.175+1G>A
|
rs753069829
|
0.00001
|
NM_004562.3(PRKN):c.1288G>A (p.Gly430Ser)
|
rs1226997153
|
0.00001
|
NM_004562.3(PRKN):c.1A>G (p.Met1Val)
|
rs772786691
|
0.00001
|
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln)
|
rs1451194842
|
0.00001
|
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla)
|
rs767443643
|
0.00001
|
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter)
|
rs754484649
|
0.00001
|
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro)
|
rs386833863
|
0.00001
|
NM_004646.4(NPHS1):c.1715G>A (p.Ser572Asn)
|
rs386833889
|
0.00001
|
NM_004646.4(NPHS1):c.2663+2T>G
|
rs762392183
|
0.00001
|
NM_004646.4(NPHS1):c.3287-2A>C
|
rs758432802
|
0.00001
|
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs)
|
rs1599845714
|
0.00001
|
NM_004817.4(TJP2):c.1056+2T>C
|
rs1278244243
|
0.00001
|
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
NM_004937.3(CTNS):c.61+2T>C
|
rs767289120
|
0.00001
|
NM_005199.5(CHRNG):c.274C>T (p.Arg92Ter)
|
rs1559302834
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)
|
rs1169744090
|
0.00001
|
NM_005373.3(MPL):c.1566-1G>A
|
rs1570474015
|
0.00001
|
NM_005373.3(MPL):c.981-1G>C
|
rs769297582
|
0.00001
|
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)
|
rs757091387
|
0.00001
|
NM_005506.4(SCARB2):c.994+2T>C
|
rs1168653552
|
0.00001
|
NM_005726.6(TSFM):c.908_909del (p.Gln303fs)
|
rs1491203033
|
0.00001
|
NM_005908.4(MANBA):c.960+1G>A
|
rs890870104
|
0.00001
|
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)
|
rs369841551
|
0.00001
|
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp)
|
rs13447332
|
0.00001
|
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)
|
rs1057519360
|
0.00001
|
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys)
|
rs181969865
|
0.00001
|
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter)
|
rs761320763
|
0.00001
|
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter)
|
rs1335076773
|
0.00001
|
NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter)
|
rs1590817956
|
0.00001
|
NM_006118.4(HAX1):c.407del (p.His136fs)
|
rs748595772
|
0.00001
|
NM_006118.4(HAX1):c.663+1G>A
|
rs41313932
|
0.00001
|
NM_006208.3(ENPP1):c.2608-1G>A
|
rs149828062
|
0.00001
|
NM_006269.2(RP1):c.1468G>T (p.Glu490Ter)
|
rs765035454
|
0.00001
|
NM_006412.4(AGPAT2):c.662-2A>C
|
rs1131691791
|
0.00001
|
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
|
rs119482083
|
0.00001
|
NM_006767.4(LZTR1):c.-38T>A
|
rs1459786357
|
0.00001
|
NM_007262.5(PARK7):c.460A>G (p.Thr154Ala)
|
rs1472900688
|
0.00001
|
NM_012062.5(DNM1L):c.1596+2T>A
|
rs769684495
|
0.00001
|
NM_012120.3(CD2AP):c.764dup (p.Ser256fs)
|
rs776297606
|
0.00001
|
NM_012203.2(GRHPR):c.404+5G>A
|
rs757796926
|
0.00001
|
NM_012203.2(GRHPR):c.735-2del
|
rs1257080057
|
0.00001
|
NM_012203.2(GRHPR):c.865+1G>T
|
rs771990662
|
0.00001
|
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys)
|
rs180177322
|
0.00001
|
NM_014049.5(ACAD9):c.1030-1G>T
|
rs773586510
|
0.00001
|
NM_014049.5(ACAD9):c.1168G>A (p.Ala390Thr)
|
rs763004980
|
0.00001
|
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp)
|
rs119473038
|
0.00001
|
NM_014140.4(SMARCAL1):c.1934G>A (p.Arg645His)
|
rs1281345070
|
0.00001
|
NM_014270.5(SLC7A9):c.209C>T (p.Ala70Val)
|
rs769448665
|
0.00001
|
NM_014336.5(AIPL1):c.276+1G>A
|
rs150097891
|
0.00001
|
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)
|
rs201883601
|
0.00001
|
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
|
rs994374354
|
0.00001
|
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter)
|
rs149055711
|
0.00001
|
NM_014425.5(INVS):c.2786+1G>A
|
rs935629850
|
0.00001
|
NM_014585.6(SLC40A1):c.610G>A (p.Gly204Ser)
|
rs387907377
|
0.00001
|
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met)
|
rs758052634
|
0.00001
|
NM_014714.4(IFT140):c.2578-2A>G
|
rs2040685752
|
0.00001
|
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter)
|
rs144513458
|
0.00001
|
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter)
|
rs1432688490
|
0.00001
|
NM_014714.4(IFT140):c.3874-1G>A
|
rs749563050
|
0.00001
|
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys)
|
rs119475041
|
0.00001
|
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)
|
rs863224923
|
0.00001
|
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter)
|
rs765277720
|
0.00001
|
NM_014956.5(CEP164):c.1724+1G>A
|
rs1489883516
|
0.00001
|
NM_014956.5(CEP164):c.2493+1G>A
|
rs778819060
|
0.00001
|
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter)
|
rs774951398
|
0.00001
|
NM_015047.3(EMC1):c.426C>A (p.Tyr142Ter)
|
rs370952454
|
0.00001
|
NM_015102.5(NPHP4):c.1504-1G>A
|
rs1204924769
|
0.00001
|
NM_015166.4(MLC1):c.321+1G>A
|
rs765879182
|
0.00001
|
NM_015166.4(MLC1):c.353C>T (p.Thr118Met)
|
rs281875316
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)
|
rs776941281
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter)
|
rs201081228
|
0.00001
|
NM_015272.5(RPGRIP1L):c.230+1G>A
|
rs786204135
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)
|
rs1456208953
|
0.00001
|
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs)
|
rs990678342
|
0.00001
|
NM_015272.5(RPGRIP1L):c.776+1G>A
|
rs771226563
|
0.00001
|
NM_015346.4(ZFYVE26):c.6144C>A (p.Tyr2048Ter)
|
rs756042888
|
0.00001
|
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter)
|
rs1335417539
|
0.00001
|
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)
|
rs372670428
|
0.00001
|
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)
|
rs768978351
|
0.00001
|
NM_015512.5(DNAH1):c.7676del (p.Val2559fs)
|
rs765417610
|
0.00001
|
NM_015662.3(IFT172):c.1525-1G>A
|
rs370540673
|
0.00001
|
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter)
|
rs761095604
|
0.00001
|
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)
|
rs999731005
|
0.00001
|
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter)
|
rs150246251
|
0.00001
|
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)
|
rs587777079
|
0.00001
|
NM_015713.5(RRM2B):c.253_255del (p.Glu85del)
|
rs515726184
|
0.00001
|
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs)
|
rs757070287
|
0.00001
|
NM_016341.4(PLCE1):c.4483C>T (p.Arg1495Ter)
|
rs548655036
|
0.00001
|
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr)
|
rs267607035
|
0.00001
|
NM_017570.5(OPLAH):c.3016C>T (p.Gln1006Ter)
|
rs782331682
|
0.00001
|
NM_017570.5(OPLAH):c.587+1G>A
|
rs1272869557
|
0.00001
|
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
|
rs756853299
|
0.00001
|
NM_017827.4(SARS2):c.30G>A (p.Trp10Ter)
|
rs145754412
|
0.00001
|
NM_017882.3(CLN6):c.486+1G>A
|
rs756522171
|
0.00001
|
NM_017947.4(MOCOS):c.1335+1G>T
|
rs1318625944
|
0.00001
|
NM_017950.4(CCDC40):c.3175C>T (p.Arg1059Ter)
|
rs1312712049
|
0.00001
|
NM_018062.4(FANCL):c.273+1G>C
|
rs144729980
|
0.00001
|
NM_018297.4(NGLY1):c.1150-1G>C
|
rs532007026
|
0.00001
|
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter)
|
rs797045450
|
0.00001
|
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter)
|
rs1227032564
|
0.00001
|
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)
|
rs386834130
|
0.00001
|
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)
|
rs104894060
|
0.00001
|
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)
|
rs538412810
|
0.00001
|
NM_019098.5(CNGB3):c.1929-1G>A
|
rs750257554
|
0.00001
|
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr)
|
rs1554619514
|
0.00001
|
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter)
|
rs1474783444
|
0.00001
|
NM_020166.5(MCCC1):c.640-2A>G
|
rs772395858
|
0.00001
|
NM_020320.5(RARS2):c.1406G>A (p.Arg469His)
|
rs759331139
|
0.00001
|
NM_020320.5(RARS2):c.1415+2T>C
|
rs772989345
|
0.00001
|
NM_020320.5(RARS2):c.297+2T>G
|
rs574343583
|
0.00001
|
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)
|
rs199564797
|
0.00001
|
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys)
|
rs121908374
|
0.00001
|
NM_020632.3(ATP6V0A4):c.2257+1G>A
|
rs145809731
|
0.00001
|
NM_020632.3(ATP6V0A4):c.52C>T (p.Gln18Ter)
|
rs1384393001
|
0.00001
|
NM_021615.5(CHST6):c.172C>T (p.Gln58Ter)
|
rs756036451
|
0.00001
|
NM_021871.4(FGA):c.364+1G>A
|
rs778779380
|
0.00001
|
NM_021922.3(FANCE):c.1114-8G>A
|
rs878854342
|
0.00001
|
NM_022041.4(GAN):c.851+1G>A
|
rs747291494
|
0.00001
|
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter)
|
rs1264582344
|
0.00001
|
NM_022089.4(ATP13A2):c.2529+1G>A
|
rs776448394
|
0.00001
|
NM_022098.4(XPNPEP3):c.645del (p.Ser216fs)
|
rs751910922
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)
|
rs119103220
|
0.00001
|
NM_022834.5(VWA1):c.1088_1091dup (p.Tyr364Ter)
|
rs1557770517
|
0.00001
|
NM_023036.6(DNAI2):c.1414C>T (p.Gln472Ter)
|
rs756868374
|
0.00001
|
NM_023036.6(DNAI2):c.718C>T (p.Gln240Ter)
|
rs780116486
|
0.00001
|
NM_024079.5(ALG8):c.368+2T>G
|
rs756894409
|
0.00001
|
NM_024079.5(ALG8):c.95+1G>A
|
rs1323512637
|
0.00001
|
NM_024079.5(ALG8):c.981dup (p.Val328fs)
|
rs777686455
|
0.00001
|
NM_024120.5(NDUFAF5):c.155A>C (p.Lys52Thr)
|
rs531254130
|
0.00001
|
NM_024120.5(NDUFAF5):c.749G>T (p.Gly250Val)
|
rs757043077
|
0.00001
|
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu)
|
rs104894681
|
0.00001
|
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)
|
rs752582904
|
0.00001
|
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr)
|
rs281864980
|
0.00001
|
NM_024422.6(DSC2):c.34_35del (p.Gly12fs)
|
rs1395367133
|
0.00001
|
NM_024649.5(BBS1):c.1111-2A>G
|
rs761969357
|
0.00001
|
NM_024685.4(BBS10):c.1000_1001insGA (p.Leu334Ter)
|
rs1555202657
|
0.00001
|
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)
|
rs758732081
|
0.00001
|
NM_024740.2(ALG9):c.566-1G>A
|
rs782379446
|
0.00001
|
NM_024753.5(TTC21B):c.1087+1G>A
|
rs776301212
|
0.00001
|
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter)
|
rs1183062277
|
0.00001
|
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter)
|
rs779134983
|
0.00001
|
NM_024753.5(TTC21B):c.3102-2A>G
|
rs779472675
|
0.00001
|
NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter)
|
rs754596743
|
0.00001
|
NM_025074.7(FRAS1):c.10948C>T (p.Gln3650Ter)
|
rs878853009
|
0.00001
|
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter)
|
rs755750961
|
0.00001
|
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter)
|
rs777438557
|
0.00001
|
NM_025074.7(FRAS1):c.934C>T (p.Gln312Ter)
|
rs377137481
|
0.00001
|
NM_025099.6(CTC1):c.2386-1G>A
|
rs199861310
|
0.00001
|
NM_025099.6(CTC1):c.775G>A (p.Val259Met)
|
rs387907080
|
0.00001
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)
|
rs368984997
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_025114.4(CEP290):c.6358-1G>A
|
rs766670248
|
0.00001
|
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)
|
rs1374014119
|
0.00001
|
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter)
|
rs771148519
|
0.00001
|
NM_025132.4(WDR19):c.2363+1G>A
|
rs886041912
|
0.00001
|
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)
|
rs587777351
|
0.00001
|
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs)
|
rs1459810136
|
0.00001
|
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter)
|
rs1015798796
|
0.00001
|
NM_030943.4(AMN):c.844-1G>C
|
rs969552874
|
0.00001
|
NM_031885.5(BBS2):c.1986dup (p.Asn663Ter)
|
rs1597001788
|
0.00001
|
NM_032119.4(ADGRV1):c.13232-1G>A
|
rs764583867
|
0.00001
|
NM_032119.4(ADGRV1):c.9907-1G>A
|
rs769286352
|
0.00001
|
NM_032383.5(HPS3):c.2733del (p.Leu911_Leu912insTer)
|
rs765169755
|
0.00001
|
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter)
|
rs1267428175
|
0.00001
|
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs)
|
rs763914156
|
0.00001
|
NM_032444.4(SLX4):c.860del (p.Ser287fs)
|
rs752720263
|
0.00001
|
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser)
|
rs137852885
|
0.00001
|
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)
|
rs775710800
|
0.00001
|
NM_033056.4(PCDH15):c.4604_4608dup (p.Ser1537fs)
|
rs747516133
|
0.00001
|
NM_033305.3(VPS13A):c.8325+1G>A
|
rs1459022689
|
0.00001
|
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys)
|
rs760838030
|
0.00001
|
NM_052989.3(IFT122):c.2017C>T (p.Arg673Ter)
|
rs1185183557
|
0.00001
|
NM_054012.4(ASS1):c.1088G>A (p.Arg363Gln)
|
rs771937610
|
0.00001
|
NM_054012.4(ASS1):c.970+5G>A
|
rs372128852
|
0.00001
|
NM_058216.3(RAD51C):c.404+2T>C
|
rs730881931
|
0.00001
|
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)
|
rs267606999
|
0.00001
|
NM_133259.4(LRPPRC):c.2326G>T (p.Glu776Ter)
|
rs758615834
|
0.00001
|
NM_133259.4(LRPPRC):c.650+1G>C
|
rs1249427615
|
0.00001
|
NM_138413.4(HOGA1):c.700+2T>G
|
rs990830655
|
0.00001
|
NM_138694.4(PKHD1):c.1A>G (p.Met1Val)
|
rs376987651
|
0.00001
|
NM_138694.4(PKHD1):c.2344C>T (p.Gln782Ter)
|
rs371928571
|
0.00001
|
NM_138694.4(PKHD1):c.3463C>T (p.Gln1155Ter)
|
rs1554200780
|
0.00001
|
NM_138694.4(PKHD1):c.53-1G>A
|
rs775511838
|
0.00001
|
NM_138694.4(PKHD1):c.5767C>T (p.Gln1923Ter)
|
rs1313206550
|
0.00001
|
NM_138694.4(PKHD1):c.603-2A>G
|
rs757521428
|
0.00001
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
NM_138694.4(PKHD1):c.8555-2A>C
|
rs1020621286
|
0.00001
|
NM_138694.4(PKHD1):c.8629del (p.Ser2877fs)
|
rs779168950
|
0.00001
|
NM_139027.6(ADAMTS13):c.330+2T>C
|
rs1474290508
|
0.00001
|
NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter)
|
rs397514613
|
0.00001
|
NM_144499.3(GNAT1):c.273C>A (p.Tyr91Ter)
|
rs143481438
|
0.00001
|
NM_144997.7(FLCN):c.779+1G>T
|
rs758175953
|
0.00001
|
NM_147127.5(EVC2):c.706+2T>C
|
rs1360260333
|
0.00001
|
NM_147127.5(EVC2):c.893del (p.His298fs)
|
rs777505711
|
0.00001
|
NM_148960.3(CLDN19):c.83C>T (p.Pro28Leu)
|
rs553635114
|
0.00001
|
NM_152384.3(BBS5):c.209-2A>G
|
rs1477098739
|
0.00001
|
NM_152419.3(HGSNAT):c.1464+1G>A
|
rs398124545
|
0.00001
|
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)
|
rs121908282
|
0.00001
|
NM_152490.5(B3GALNT2):c.762+1G>A
|
rs757347274
|
0.00001
|
NM_152617.4(RNF168):c.493C>T (p.Arg165Ter)
|
rs148275050
|
0.00001
|
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)
|
rs1381368546
|
0.00001
|
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)
|
rs1269565757
|
0.00001
|
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter)
|
rs1194574169
|
0.00001
|
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)
|
rs745448288
|
0.00001
|
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs)
|
rs770872200
|
0.00001
|
NM_153240.5(NPHP3):c.2171+1G>A
|
rs1280230808
|
0.00001
|
NM_153240.5(NPHP3):c.2311-2A>G
|
rs1332659264
|
0.00001
|
NM_153676.4(USH1C):c.2227-1G>T
|
rs778110397
|
0.00001
|
NM_153704.6(TMEM67):c.769A>G (p.Met257Val)
|
rs863225227
|
0.00001
|
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)
|
rs769957689
|
0.00001
|
NM_153766.3(KCNJ1):c.867C>A (p.Cys289Ter)
|
rs746509804
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170784.3(MKKS):c.251_252del (p.His84fs)
|
rs756259125
|
0.00001
|
NM_170784.3(MKKS):c.380del (p.Cys127fs)
|
rs867346158
|
0.00001
|
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg)
|
rs768929313
|
0.00001
|
NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter)
|
rs772294726
|
0.00001
|
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile)
|
rs377476335
|
0.00001
|
NM_176824.3(BBS7):c.838C>T (p.Arg280Ter)
|
rs151275562
|
0.00001
|
NM_177924.5(ASAH1):c.186G>A (p.Trp62Ter)
|
rs769683272
|
0.00001
|
NM_177924.5(ASAH1):c.410A>G (p.Tyr137Cys)
|
rs371666412
|
0.00001
|
NM_178452.6(DNAAF1):c.1012del (p.Arg338fs)
|
rs762843285
|
0.00001
|
NM_181426.2(CCDC39):c.2335C>T (p.Gln779Ter)
|
rs1717267418
|
0.00001
|
NM_182916.3(TRNT1):c.1010del (p.Thr337fs)
|
rs772805677
|
0.00001
|
NM_198129.4(LAMA3):c.7158+1G>A
|
rs1057516279
|
0.00001
|
NM_199242.3(UNC13D):c.919C>T (p.Gln307Ter)
|
rs747169857
|
0.00001
|
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)
|
rs769909288
|
0.00001
|
NM_201548.5(CERKL):c.1074-1G>C
|
rs927261937
|
0.00001
|
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)
|
rs1187839124
|
0.00001
|
NM_205861.3(DHDDS):c.658-2A>G
|
rs1248671884
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.10724G>A (p.Cys3575Tyr)
|
rs111033265
|
0.00001
|
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)
|
rs770329105
|
0.00001
|
NM_207361.6(FREM2):c.8176+2dup
|
rs779126010
|
0.00001
|
NR_003051.3(RMRP):n.-22_-14dup
|
rs1563908167
|
0.00001
|
NR_003051.4(RMRP):n.195G>A
|
rs761398394
|
0.00001
|
GRCh37/hg19 11q13.4(chr11:71155018-71156024)
|
|
|
GRCh37/hg19 11q23.3(chr11:117278620-117284002)
|
|
|
GRCh37/hg19 22q11.21(chr22:18900895-18923882)
|
|
|
GRCh37/hg19 2q31.1(chr2:170134234-170137049)
|
|
|
GRCh37/hg19 3q26.1(chr3:164696665-164751252)
|
|
|
GRCh37/hg19 3q26.1(chr3:164714302-164716481)
|
|
|
GRCh37/hg19 4q22.1(chr4:88973122-88979275)
|
|
|
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
|
|
|
GRCh37/hg19 6q26(chr6:162206818-162206900)
|
|
|
GRCh37/hg19 6q26(chr6:162475128-162475157)
|
|
|
GRCh37/hg19 6q26(chr6:162683576-162683772)
|
|
|
GRCh37/hg19 6q26(chr6:162864400-162864441)
|
|
|
GRCh37/hg19 Xq22.3(chrX:107802273-107802403)
|
|
|
NC_000015.9:g.68504037_68504039delGAT
|
rs121908080
|
|
NC_000018.9:g.77733765C>A
|
rs727502793
|
|
NG_009091.1(KCNE1):g.[66853A>C;66857T>C]
|
rs281865421
|
|
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs)
|
rs387906297
|
|
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del)
|
rs1570866192
|
|
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)
|
rs779759347
|
|
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)
|
rs1432183079
|
|
NM_000019.4(ACAT1):c.261dup (p.Glu88fs)
|
rs1201662412
|
|
NM_000019.4(ACAT1):c.571del (p.Ile191fs)
|
rs761038005
|
|
NM_000019.4(ACAT1):c.824del (p.Asn275fs)
|
rs1163072872
|
|
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg)
|
rs1085307418
|
|
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe)
|
rs1318118188
|
|
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter)
|
rs556168617
|
|
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr)
|
rs1592224291
|
|
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)
|
rs63751223
|
|
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)
|
rs63749836
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
NM_000027.4(AGA):c.281+1G>T
|
rs1553994812
|
|
NM_000027.4(AGA):c.302C>T (p.Ala101Val)
|
rs121964908
|
|
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)
|
rs180177156
|
|
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro)
|
rs180177160
|
|
NM_000030.3(AGXT):c.126del (p.Leu43fs)
|
rs180177171
|
|
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)
|
rs180177195
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)
|
rs180177236
|
|
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)
|
rs180177252
|
|
NM_000030.3(AGXT):c.662_664del (p.Ser221del)
|
rs796052071
|
|
NM_000030.3(AGXT):c.673_676del (p.Lys225fs)
|
rs1057516896
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)
|
rs750026492
|
|
NM_000035.4(ALDOB):c.673del (p.Glu225fs)
|
rs758133069
|
|
NM_000038.6(APC):c.1312+3A>G
|
rs863225311
|
|
NM_000038.6(APC):c.4638_4639del (p.Asn1546fs)
|
rs1561594148
|
|
NM_000043.6(FAS):c.651+1G>A
|
rs1564696849
|
|
NM_000045.4(ARG1):c.665+2T>C
|
rs113645893
|
|
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys)
|
rs937670540
|
|
NM_000049.4(ASPA):c.527-2A>C
|
rs778385612
|
|
NM_000051.4(ATM):c.-30-1G>T
|
rs869312754
|
|
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)
|
rs1555069617
|
|
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter)
|
rs879254190
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)
|
rs587781545
|
|
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs)
|
rs886039632
|
|
NM_000051.4(ATM):c.3435del (p.Asp1145fs)
|
rs1591636349
|
|
NM_000051.4(ATM):c.3510dup (p.Gln1171fs)
|
rs876658899
|
|
NM_000051.4(ATM):c.3764dup (p.Leu1255fs)
|
rs1555093303
|
|
NM_000051.4(ATM):c.471T>A (p.Cys157Ter)
|
rs1555059459
|
|
NM_000051.4(ATM):c.4879del (p.Gln1627fs)
|
rs2135837254
|
|
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs)
|
rs1591702700
|
|
NM_000051.4(ATM):c.5496+2_5496+5del
|
rs1565479572
|
|
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)
|
rs587779861
|
|
NM_000051.4(ATM):c.7203del (p.Ile2401fs)
|
rs2136417490
|
|
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)
|
rs587780639
|
|
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)
|
rs587782847
|
|
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His)
|
rs72552285
|
|
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr)
|
rs72552285
|
|
NM_000053.4(ATP7B):c.2122-1G>A
|
rs1319653818
|
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
|
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys)
|
rs1057517310
|
|
NM_000053.4(ATP7B):c.3556+1G>T
|
rs184388696
|
|
NM_000053.4(ATP7B):c.3700-1G>A
|
rs1555284021
|
|
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe)
|
rs749472361
|
|
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro)
|
rs1444841250
|
|
NM_000053.4(ATP7B):c.51dup
|
rs1954023351
|
|
NM_000053.4(ATP7B):c.956del (p.Pro319fs)
|
rs753674382
|
|
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)
|
rs104894760
|
|
NM_000054.7(AVPR2):c.383A>C (p.Tyr128Ser)
|
rs781950164
|
|
NM_000054.7(AVPR2):c.752_758del (p.Arg251fs)
|
rs193922118
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter)
|
rs2151158332
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs)
|
rs1555420842
|
|
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)
|
rs1555420844
|
|
NM_000057.4(BLM):c.2580_2581del (p.His860fs)
|
rs864622347
|
|
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter)
|
rs1896712163
|
|
NM_000057.4(BLM):c.357_358del (p.Cys120fs)
|
rs748186908
|
|
NM_000057.4(BLM):c.709del (p.Cys237fs)
|
rs1217879599
|
|
NM_000059.4(BRCA2):c.15del (p.Glu7fs)
|
rs1064795072
|
|
NM_000059.4(BRCA2):c.1889del (p.Thr630fs)
|
rs80359315
|
|
NM_000059.4(BRCA2):c.2482T>C (p.Tyr828His)
|
rs1060502466
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
NM_000064.4(C3):c.1775G>A (p.Arg592Gln)
|
rs121909583
|
|
NM_000064.4(C3):c.373dup (p.Leu125fs)
|
rs1337559480
|
|
NM_000065.5(C6):c.2335_2336del (p.Gln779fs)
|
rs771792933
|
|
NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs)
|
rs2102144416
|
|
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter)
|
rs1572048220
|
|
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs)
|
rs1572038993
|
|
NM_000070.3(CAPN3):c.747C>G (p.Tyr249Ter)
|
rs757448865
|
|
NM_000071.3(CBS):c.362G>T (p.Arg121Leu)
|
rs770095972
|
|
NM_000071.3(CBS):c.667-14_667-7del
|
rs764160782
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)
|
rs587780668
|
|
NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro)
|
rs754806883
|
|
NM_000079.4(CHRNA1):c.518dup (p.Ser174fs)
|
rs1064793397
|
|
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs)
|
rs769945146
|
|
NM_000080.4(CHRNE):c.1429del (p.Ala477fs)
|
rs1396286715
|
|
NM_000080.4(CHRNE):c.235-2A>G
|
rs1597622118
|
|
NM_000080.4(CHRNE):c.794C>T (p.Pro265Leu)
|
rs759226183
|
|
NM_000080.4(CHRNE):c.847C>T (p.Gln283Ter)
|
rs773929089
|
|
NM_000080.4(CHRNE):c.934_936del (p.Met312del)
|
rs1555546465
|
|
NM_000088.4(COL1A1):c.1177C>T (p.Gln393Ter)
|
rs2144576822
|
|
NM_000088.4(COL1A1):c.985G>C (p.Gly329Arg)
|
rs1555574303
|
|
NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg)
|
rs587779696
|
|
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu)
|
rs587779620
|
|
NM_000091.5(COL4A3):c.1114+1G>A
|
rs1286895614
|
|
NM_000091.5(COL4A3):c.1262del (p.Gly421fs)
|
rs2125972772
|
|
NM_000091.5(COL4A3):c.1315G>A (p.Gly439Ser)
|
rs1553755124
|
|
NM_000091.5(COL4A3):c.1391G>A (p.Gly464Glu)
|
rs2125981235
|
|
NM_000091.5(COL4A3):c.1407del (p.Gly470fs)
|
rs766025194
|
|
NM_000091.5(COL4A3):c.1409G>A (p.Gly470Glu)
|
rs2125982395
|
|
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser)
|
rs779575469
|
|
NM_000091.5(COL4A3):c.2048G>A (p.Gly683Glu)
|
rs2106132144
|
|
NM_000091.5(COL4A3):c.2215G>A (p.Gly739Arg)
|
rs375040636
|
|
NM_000091.5(COL4A3):c.234+1G>A
|
rs1240838887
|
|
NM_000091.5(COL4A3):c.2621del (p.Gly874fs)
|
rs759043857
|
|
NM_000091.5(COL4A3):c.3068_3069del (p.Pro1023fs)
|
rs1064796094
|
|
NM_000091.5(COL4A3):c.3070+1G>A
|
rs2106206598
|
|
NM_000091.5(COL4A3):c.3134G>T (p.Gly1045Val)
|
rs2072649241
|
|
NM_000091.5(COL4A3):c.3337+1del
|
rs1350835100
|
|
NM_000091.5(COL4A3):c.3463G>A (p.Gly1155Ser)
|
rs774583962
|
|
NM_000091.5(COL4A3):c.3682G>C (p.Gly1228Arg)
|
rs1559913871
|
|
NM_000091.5(COL4A3):c.388-1G>T
|
rs1553750900
|
|
NM_000091.5(COL4A3):c.388-2A>G
|
rs2069361375
|
|
NM_000091.5(COL4A3):c.3964G>A (p.Gly1322Ser)
|
rs759739044
|
|
NM_000091.5(COL4A3):c.656G>T (p.Gly219Val)
|
rs2069900248
|
|
NM_000091.5(COL4A3):c.688G>A (p.Gly230Ser)
|
rs2125932297
|
|
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu)
|
rs1425230568
|
|
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp)
|
rs1559872489
|
|
NM_000092.5(COL4A4):c.1045C>T (p.Arg349Ter)
|
rs534522842
|
|
NM_000092.5(COL4A4):c.1327_1344del (p.Pro444_Leu449del)
|
rs1203564054
|
|
NM_000092.5(COL4A4):c.1476_1477del (p.Ala493fs)
|
rs2150596830
|
|
NM_000092.5(COL4A4):c.1531C>T (p.Gln511Ter)
|
rs2150595867
|
|
NM_000092.5(COL4A4):c.1544G>T (p.Gly515Val)
|
rs2150595484
|
|
NM_000092.5(COL4A4):c.1652G>A (p.Gly551Asp)
|
rs2059360185
|
|
NM_000092.5(COL4A4):c.1696+1G>A
|
rs954701825
|
|
NM_000092.5(COL4A4):c.1696+1G>T
|
rs954701825
|
|
NM_000092.5(COL4A4):c.1697-1G>A
|
rs1559569975
|
|
NM_000092.5(COL4A4):c.1828G>A (p.Gly610Ser)
|
rs1559563525
|
|
NM_000092.5(COL4A4):c.1935_1952del (p.Pro647_Val652del)
|
rs1553658892
|
|
NM_000092.5(COL4A4):c.2545+2T>G
|
rs1559515075
|
|
NM_000092.5(COL4A4):c.2826_2827insAC (p.Leu943fs)
|
rs1559508134
|
|
NM_000092.5(COL4A4):c.2969-1G>C
|
rs1553639043
|
|
NM_000092.5(COL4A4):c.3214+1G>A
|
rs747167770
|
|
NM_000092.5(COL4A4):c.3289+1G>C
|
rs1973128133
|
|
NM_000092.5(COL4A4):c.3973+1G>T
|
rs755478262
|
|
NM_000092.5(COL4A4):c.4538G>A (p.Cys1513Tyr)
|
rs1962651394
|
|
NM_000092.5(COL4A4):c.4544_4556del (p.Pro1515fs)
|
rs2149722718
|
|
NM_000092.5(COL4A4):c.4646dup (p.Met1551fs)
|
rs2149721718
|
|
NM_000092.5(COL4A4):c.4684del (p.Tyr1562fs)
|
rs1962591629
|
|
NM_000092.5(COL4A4):c.4717del (p.Ala1573fs)
|
rs2149720724
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000092.5(COL4A4):c.596G>T (p.Gly199Val)
|
rs1559646395
|
|
NM_000092.5(COL4A4):c.718G>C (p.Gly240Arg)
|
rs2060994526
|
|
NM_000092.5(COL4A4):c.871-1G>C
|
rs375450996
|
|
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)
|
rs1833258579
|
|
NM_000094.4(COL7A1):c.3636del (p.Phe1213fs)
|
rs2107746826
|
|
NM_000094.4(COL7A1):c.8278G>A (p.Gly2760Arg)
|
rs1064797081
|
|
NM_000094.4(COL7A1):c.8304+1G>A
|
rs759579761
|
|
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs)
|
rs908749525
|
|
NM_000098.3(CPT2):c.852del (p.Glu285fs)
|
rs1057517729
|
|
NM_000098.3(CPT2):c.989dup (p.Ile332fs)
|
rs1553169716
|
|
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val)
|
rs1590204913
|
|
NM_000102.4(CYP17A1):c.869del (p.Asn290fs)
|
rs766331452
|
|
NM_000104.4(CYP1B1):c.1099dup (p.Asp367fs)
|
rs2125314883
|
|
NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del)
|
rs751768343
|
|
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs)
|
rs773499329
|
|
NM_000110.4(DPYD):c.2622+1G>A
|
rs1057517095
|
|
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)
|
rs104893920
|
|
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs)
|
rs1554095374
|
|
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs)
|
rs786204675
|
|
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs)
|
rs770925947
|
|
NM_000126.4(ETFA):c.963+1del
|
rs746488455
|
|
NM_000128.4(F11):c.664G>T (p.Asp222Tyr)
|
rs281875245
|
|
NM_000133.4(F9):c.1024A>G (p.Thr342Ala)
|
rs1603267362
|
|
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)
|
rs769580546
|
|
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)
|
rs1484087361
|
|
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)
|
rs1416639878
|
|
NM_000135.4(FANCA):c.1294del (p.Leu432fs)
|
rs1211579979
|
|
NM_000135.4(FANCA):c.1470+2T>C
|
rs2039844134
|
|
NM_000135.4(FANCA):c.1715+1G>T
|
rs1555552506
|
|
NM_000135.4(FANCA):c.1809dup (p.Ile604fs)
|
rs1343140664
|
|
NM_000135.4(FANCA):c.1844dup (p.Ser616fs)
|
rs779375100
|
|
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs)
|
rs2143393148
|
|
NM_000135.4(FANCA):c.1901-2A>G
|
rs1555549535
|
|
NM_000135.4(FANCA):c.1A>T (p.Met1Leu)
|
rs772751654
|
|
NM_000135.4(FANCA):c.2001dup (p.Ser668fs)
|
rs2143366568
|
|
NM_000135.4(FANCA):c.2151+1dup
|
rs777971510
|
|
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)
|
rs1567618907
|
|
NM_000135.4(FANCA):c.2316+1_2316+3del
|
rs2039275264
|
|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)
|
rs753063086
|
|
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)
|
rs2038398856
|
|
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)
|
rs1183256870
|
|
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.4010+1_4010+18del
|
rs752457319
|
|
NM_000135.4(FANCA):c.4261-2A>G
|
rs915983602
|
|
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)
|
rs764122657
|
|
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)
|
rs759900071
|
|
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs)
|
rs1588353886
|
|
NM_000136.3(FANCC):c.284_293del (p.Cys95fs)
|
rs2136049324
|
|
NM_000136.3(FANCC):c.460del (p.Val154fs)
|
rs1825653076
|
|
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.996G>A (p.Gln332=)
|
rs1825770865
|
|
NM_000137.4(FAH):c.2T>A (p.Met1Lys)
|
rs1057516934
|
|
NM_000137.4(FAH):c.606+1G>A
|
rs773450608
|
|
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)
|
rs112645512
|
|
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg)
|
rs1555400373
|
|
NM_000138.5(FBN1):c.1837+5G>A
|
rs1445085747
|
|
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser)
|
rs1555398681
|
|
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser)
|
rs1555397413
|
|
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)
|
rs1555395486
|
|
NM_000138.5(FBN1):c.7498T>A (p.Cys2500Ser)
|
rs363810
|
|
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)
|
rs1057519044
|
|
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly)
|
rs121918506
|
|
NM_000143.4(FH):c.739-2A>G
|
rs1553341174
|
|
NM_000143.4(FH):c.904+1G>A
|
rs1553341148
|
|
NM_000143.4(FH):c.952C>T (p.His318Tyr)
|
rs398123168
|
|
NM_000146.4(FTL):c.-149G>C
|
rs398124638
|
|
NM_000146.4(FTL):c.-161C>T
|
rs398124636
|
|
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe)
|
rs367727229
|
|
NM_000151.4(G6PC1):c.506C>G (p.Ser169Ter)
|
rs2056081719
|
|
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)
|
rs80356482
|
|
NM_000151.4(G6PC1):c.980_982del (p.Phe327del)
|
rs80356486
|
|
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.1551+1G>C
|
rs770780848
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn)
|
rs1381005435
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
NM_000152.5(GAA):c.4G>T (p.Gly2Ter)
|
rs1567825175
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000152.5(GAA):c.711_712dup (p.Pro238fs)
|
rs1555599586
|
|
NM_000153.4(GALC):c.453G>A (p.Trp151Ter)
|
rs745620101
|
|
NM_000153.4(GALC):c.953C>G (p.Pro318Arg)
|
rs387906954
|
|
NM_000154.2(GALK1):c.364del (p.Leu122fs)
|
rs2061596711
|
|
NM_000155.4(GALT):c.508-1G>C
|
rs398123181
|
|
NM_000155.4(GALT):c.904+1G>T
|
rs367543271
|
|
NM_000156.6(GAMT):c.307del (p.Ala103fs)
|
rs2082622867
|
|
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)
|
rs1553217294
|
|
NM_000159.4(GCDH):c.263G>A (p.Arg88His)
|
rs1970568682
|
|
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)
|
rs566417795
|
|
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)
|
rs566417795
|
|
NM_000159.4(GCDH):c.636-4_639del
|
rs775103982
|
|
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)
|
rs1131691416
|
|
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)
|
rs193922283
|
|
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)
|
rs142952813
|
|
NM_000162.5(GCK):c.871A>T (p.Lys291Ter)
|
rs193922335
|
|
NM_000169.3(GLA):c.1068dup (p.Gln357fs)
|
rs2147471075
|
|
NM_000169.3(GLA):c.486G>A (p.Trp162Ter)
|
rs869312311
|
|
NM_000169.3(GLA):c.548G>A (p.Gly183Asp)
|
rs398123212
|
|
NM_000169.3(GLA):c.59C>A (p.Ala20Asp)
|
rs869312134
|
|
NM_000169.3(GLA):c.730G>C (p.Asp244His)
|
rs727503948
|
|
NM_000169.3(GLA):c.815A>G (p.Asn272Ser)
|
rs28935495
|
|
NM_000169.3(GLA):c.886A>G (p.Met296Val)
|
rs104894830
|
|
NM_000170.3(GLDC):c.2315+2T>A
|
rs1554643738
|
|
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)
|
rs766762760
|
|
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter)
|
rs1209943477
|
|
NM_000170.3(GLDC):c.2838+5G>A
|
rs386833568
|
|
NM_000170.3(GLDC):c.334+1G>T
|
rs978795483
|
|
NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs)
|
rs878853702
|
|
NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs)
|
rs1572746382
|
|
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)
|
rs137852774
|
|
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer)
|
rs2147768516
|
|
NM_000186.4(CFH):c.213G>A (p.Trp71Ter)
|
rs1210674261
|
|
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)
|
rs1057517928
|
|
NM_000194.3(HPRT1):c.532+1_532+2del
|
rs2124305218
|
|
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs)
|
rs758028806
|
|
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)
|
rs773323079
|
|
NM_000197.2(HSD17B3):c.221A>C (p.Asn74Thr)
|
rs780178733
|
|
NM_000199.5(SGSH):c.506+1G>A
|
rs763063355
|
|
NM_000199.5(SGSH):c.733C>T (p.Arg245Cys)
|
rs1455698449
|
|
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
|
rs931627770
|
|
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)
|
rs774605197
|
|
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter)
|
rs752671716
|
|
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter)
|
rs2126178088
|
|
NM_000210.4(ITGA6):c.442C>T (p.Arg148Ter)
|
rs754621187
|
|
NM_000211.5(ITGB2):c.2200G>T (p.Glu734Ter)
|
rs1464015799
|
|
NM_000213.5(ITGB4):c.4635_4636del (p.Arg1545fs)
|
rs1178371226
|
|
NM_000213.5(ITGB4):c.5091del (p.Glu1698fs)
|
rs1157557804
|
|
NM_000213.5(ITGB4):c.5218+2T>C
|
rs780675808
|
|
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)
|
rs199472807
|
|
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)
|
rs397508103
|
|
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)
|
rs1435990592
|
|
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)
|
rs199473460
|
|
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs)
|
rs397508134
|
|
NM_000228.3(LAMB3):c.1288+1G>T
|
rs1186161867
|
|
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)
|
rs1881865054
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)
|
rs1207685911
|
|
NM_000237.3(LPL):c.688del (p.Val230fs)
|
rs2128838185
|
|
NM_000243.3(MEFV):c.1597_1598dup (p.Asp533fs)
|
rs1179528365
|
|
NM_000249.4(MLH1):c.1897-2A>G
|
rs267607871
|
|
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)
|
rs550890395
|
|
NM_000249.4(MLH1):c.208-3C>G
|
rs267607720
|
|
NM_000249.4(MLH1):c.589-1G>A
|
rs587779027
|
|
NM_000249.4(MLH1):c.589-1G>T
|
rs587779027
|
|
NM_000249.4(MLH1):c.816del (p.Arg273fs)
|
rs2125837110
|
|
NM_000251.3(MSH2):c.1276+1G>T
|
rs267607950
|
|
NM_000251.3(MSH2):c.1661+1G>T
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)
|
rs63750597
|
|
NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)
|
rs765373403
|
|
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs)
|
rs1476515561
|
|
NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro)
|
rs1767556193
|
|
NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del)
|
rs1767553642
|
|
NM_000255.4(MMUT):c.1445-2A>G
|
rs398123276
|
|
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr)
|
rs753564352
|
|
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)
|
rs879253851
|
|
NM_000255.4(MMUT):c.29del (p.Leu10fs)
|
rs1437477079
|
|
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile)
|
rs200908035
|
|
NM_000256.3(MYBPC3):c.1224-19G>A
|
rs587776699
|
|
NM_000256.3(MYBPC3):c.1351+2T>C
|
rs397515897
|
|
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs)
|
rs727503192
|
|
NM_000256.3(MYBPC3):c.407-1G>A
|
rs185449721
|
|
NM_000256.3(MYBPC3):c.884del (p.Phe295fs)
|
rs730880684
|
|
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu)
|
rs730880749
|
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
|
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)
|
rs397516178
|
|
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)
|
rs45544633
|
|
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)
|
rs397516264
|
|
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)
|
rs782279338
|
|
NM_000260.4(MYO7A):c.285+2T>G
|
rs782292032
|
|
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter)
|
rs782281371
|
|
NM_000260.4(MYO7A):c.397C>T (p.His133Tyr)
|
rs111033403
|
|
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter)
|
rs779423223
|
|
NM_000262.3(NAGA):c.759+1_759+8del
|
rs768761898
|
|
NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs)
|
rs2092905845
|
|
NM_000271.5(NPC1):c.2179del (p.Val727fs)
|
rs2145394955
|
|
NM_000271.5(NPC1):c.2978dup (p.Asp994fs)
|
rs775915490
|
|
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)
|
rs778878523
|
|
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs)
|
rs774943545
|
|
NM_000274.4(OAT):c.824G>A (p.Trp275Ter)
|
rs267606924
|
|
NM_000274.4(OAT):c.97dup (p.Thr33fs)
|
rs1375779674
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
NM_000276.4(OCRL):c.1244+1G>A
|
rs1936163310
|
|
NM_000276.4(OCRL):c.953G>A (p.Arg318His)
|
rs2124405779
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)
|
rs77554925
|
|
NM_000277.3(PAH):c.712A>G (p.Thr238Ala)
|
rs199475577
|
|
NM_000277.3(PAH):c.806T>A (p.Ile269Asn)
|
rs199475644
|
|
NM_000278.5(PAX2):c.221_226dup (p.Glu74_Thr75dup)
|
rs387906530
|
|
NM_000278.5(PAX2):c.239C>T (p.Pro80Leu)
|
rs1554856032
|
|
NM_000278.5(PAX2):c.483del (p.Gly162fs)
|
rs2133894273
|
|
NM_000278.5(PAX2):c.791del (p.Gln264fs)
|
rs2133950639
|
|
NM_000282.4(PCCA):c.1330dup (p.Tyr444fs)
|
rs1595236063
|
|
NM_000282.4(PCCA):c.1716dup (p.Val573fs)
|
rs2152811869
|
|
NM_000282.4(PCCA):c.1899+4_1899+7del
|
rs794727334
|
|
NM_000282.4(PCCA):c.915-1G>C
|
rs367615795
|
|
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)
|
rs61753224
|
|
NM_000289.6(PFKM):c.159+1G>T
|
rs1305706304
|
|
NM_000295.5(SERPINA1):c.1158del (p.Glu387fs)
|
rs764325655
|
|
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)
|
rs886041114
|
|
NM_000297.4(PKD2):c.1837C>T (p.Gln613Ter)
|
rs2110127334
|
|
NM_000297.4(PKD2):c.2241-2A>G
|
rs1560626499
|
|
NM_000297.4(PKD2):c.783dup (p.Val262fs)
|
rs2110104877
|
|
NM_000298.6(PKLR):c.391_393del (p.Ile131del)
|
rs886045351
|
|
NM_000301.5(PLG):c.2019-1G>A
|
rs2115181746
|
|
NM_000303.3(PMM2):c.256-2A>G
|
rs1057516372
|
|
NM_000303.3(PMM2):c.414del (p.Glu139fs)
|
rs755008774
|
|
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs)
|
rs2060686245
|
|
NM_000303.3(PMM2):c.66+1del
|
rs1555495965
|
|
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)
|
rs148759949
|
|
NM_000303.3(PMM2):c.72del (p.Thr25fs)
|
rs2060617981
|
|
NM_000310.4(PPT1):c.6del (p.Ser3fs)
|
rs1570476221
|
|
NM_000312.4(PROC):c.303C>A (p.Cys101Ter)
|
rs764808999
|
|
NM_000314.8(PTEN):c.202T>C (p.Tyr68His)
|
rs398123317
|
|
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro)
|
rs121909226
|
|
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg)
|
rs786204865
|
|
NM_000329.3(RPE65):c.246-11A>G
|
rs905365719
|
|
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile)
|
rs886041805
|
|
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)
|
rs137854609
|
|
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp)
|
rs199473055
|
|
NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu)
|
rs137852709
|
|
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)
|
rs1447936042
|
|
NM_000341.4(SLC3A1):c.1603_1604del (p.Thr535fs)
|
rs767801148
|
|
NM_000341.4(SLC3A1):c.1617+1dup
|
rs2104385579
|
|
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)
|
rs121912751
|
|
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter)
|
rs199694087
|
|
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr)
|
rs2047328405
|
|
NM_000349.3(STAR):c.178+1G>C
|
rs1554503011
|
|
NM_000349.3(STAR):c.811del (p.Leu271fs)
|
rs1350908961
|
|
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)
|
rs886044720
|
|
NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer)
|
rs1659427600
|
|
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)
|
rs886044758
|
|
NM_000352.6(ABCC8):c.1647del (p.Ile550fs)
|
rs2133554613
|
|
NM_000352.6(ABCC8):c.290+2T>C
|
rs1554948310
|
|
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
|
|
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)
|
rs28936370
|
|
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)
|
rs758231286
|
|
NM_000359.3(TGM1):c.2226-2A>G
|
rs752349623
|
|
NM_000360.4(TH):c.312+1G>A
|
rs1554923802
|
|
NM_000368.5(TSC1):c.846del (p.Ala283fs)
|
rs1846010451
|
|
NM_000369.5(TSHR):c.1963_1964del (p.Thr655fs)
|
rs761918916
|
|
NM_000369.5(TSHR):c.418del (p.Met140fs)
|
rs1085307573
|
|
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)
|
rs121918071
|
|
NM_000372.5(TYR):c.1392dup (p.Lys465Ter)
|
rs1555100853
|
|
NM_000380.4(XPA):c.772_785del (p.Arg258fs)
|
rs778543124
|
|
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)
|
rs179363882
|
|
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn)
|
rs1382988295
|
|
NM_000384.3(APOB):c.537+1G>T
|
rs2103384749
|
|
NM_000384.3(APOB):c.9115_9119del (p.Phe3039fs)
|
rs1215189537
|
|
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)
|
rs1057518933
|
|
NM_000388.4(CASR):c.2506G>T (p.Val836Leu)
|
rs2107650629
|
|
NM_000388.4(CASR):c.379G>A (p.Glu127Lys)
|
rs2074565202
|
|
NM_000388.4(CASR):c.413C>T (p.Thr138Met)
|
rs121909263
|
|
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys)
|
rs2074624616
|
|
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)
|
rs1553517323
|
|
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter)
|
rs375958814
|
|
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)
|
rs137852317
|
|
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs)
|
rs398123349
|
|
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs)
|
rs1057517045
|
|
NM_000414.4(HSD17B4):c.868+1del
|
rs749532705
|
|
NM_000422.3(KRT17):c.281G>A (p.Arg94His)
|
rs28928897
|
|
NM_000422.3(KRT17):c.287CCT[1] (p.Ser97del)
|
rs121912478
|
|
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter)
|
rs398123368
|
|
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs)
|
rs1480934961
|
|
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)
|
rs1554227092
|
|
NM_000428.3(LTBP2):c.2389-2A>G
|
rs1327636983
|
|
NM_000431.4(MVK):c.943_944del (p.Leu315fs)
|
rs776735249
|
|
NM_000432.4(MYL2):c.376C>T (p.Gln126Ter)
|
rs1064796377
|
|
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu)
|
rs104894370
|
|
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter)
|
rs751458617
|
|
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys)
|
rs762734007
|
|
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr)
|
rs1555727841
|
|
NM_000436.4(OXCT1):c.278+1G>A
|
rs2112471375
|
|
NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter)
|
rs121918578
|
|
NM_000440.3(PDE6A):c.999-2A>G
|
rs1753232409
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)
|
rs768471577
|
|
NM_000441.2(SLC26A4):c.1707+2T>C
|
rs1554360707
|
|
NM_000441.2(SLC26A4):c.1708-1G>T
|
rs759414956
|
|
NM_000444.6(PHEX):c.2193del (p.Phe731fs)
|
rs886041631
|
|
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys)
|
rs749027430
|
|
NM_000455.5(STK11):c.719C>G (p.Ser240Trp)
|
rs730881976
|
|
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs)
|
rs2147473703
|
|
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter)
|
rs2147553451
|
|
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
|
|
|
NM_000463.3(UGT1A1):c.44T>G (p.Leu15Arg)
|
rs111033541
|
|
NM_000465.4(BARD1):c.1872del (p.Leu625fs)
|
rs876659572
|
|
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)
|
rs370483961
|
|
NM_000466.3(PEX1):c.273+1G>A
|
rs1554376597
|
|
NM_000466.3(PEX1):c.2859dup (p.Thr954fs)
|
rs1057517472
|
|
NM_000466.3(PEX1):c.357+1G>T
|
rs866144313
|
|
NM_000466.3(PEX1):c.358-1G>T
|
rs1057517479
|
|
NM_000466.3(PEX1):c.358-2A>C
|
rs1057517500
|
|
NM_000466.3(PEX1):c.3622del (p.Arg1208fs)
|
rs1791174009
|
|
NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs)
|
rs1553414600
|
|
NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs)
|
rs1344601362
|
|
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys)
|
rs1057517173
|
|
NM_000478.6(ALPL):c.1427A>C (p.Glu476Ala)
|
rs2148195004
|
|
NM_000478.6(ALPL):c.203C>T (p.Thr68Met)
|
rs1644478533
|
|
NM_000478.6(ALPL):c.247G>T (p.Glu83Ter)
|
rs2148152544
|
|
NM_000478.6(ALPL):c.395C>T (p.Ala132Val)
|
rs1558548925
|
|
NM_000478.6(ALPL):c.649-1G>A
|
rs2148171286
|
|
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)
|
rs386833683
|
|
NM_000481.4(AMT):c.886C>T (p.Arg296Cys)
|
rs1056820947
|
|
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs)
|
rs386833692
|
|
NM_000481.4(AMT):c.987del (p.Met330fs)
|
rs1278265933
|
|
NM_000485.3(APRT):c.188G>A (p.Gly63Asp)
|
rs1909091672
|
|
NM_000485.3(APRT):c.280_286del (p.Gly94fs)
|
rs776240467
|
|
NM_000485.3(APRT):c.439C>T (p.Gln147Ter)
|
rs745872435
|
|
NM_000486.6(AQP2):c.127C>T (p.Gln43Ter)
|
rs1481158831
|
|
NM_000486.6(AQP2):c.502G>A (p.Val168Met)
|
|
|
NM_000486.6(AQP2):c.97_119del (p.Asn33fs)
|
rs772201159
|
|
NM_000487.6(ARSA):c.225-2A>G
|
rs1555901083
|
|
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp)
|
rs74315463
|
|
NM_000487.6(ARSA):c.607T>C (p.Tyr203His)
|
rs2082680103
|
|
NM_000488.4(SERPINC1):c.166C>T (p.Arg56Cys)
|
rs28929469
|
|
NM_000488.4(SERPINC1):c.442T>C (p.Ser148Pro)
|
rs121909569
|
|
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)
|
rs121908805
|
|
NM_000492.4(CFTR):c.1766+2T>A
|
rs1554389062
|
|
NM_000492.4(CFTR):c.3717+5G>A
|
rs193922520
|
|
NM_000497.4(CYP11B1):c.1359dup (p.Arg454fs)
|
rs2130266157
|
|
NM_000497.4(CYP11B1):c.1398+4A>G
|
rs1586557065
|
|
NM_000497.4(CYP11B1):c.726del (p.Ser243fs)
|
rs1327055239
|
|
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)
|
rs199621188
|
|
NM_000501.4(ELN):c.166del (p.Leu56fs)
|
rs2131266202
|
|
NM_000503.6(EYA1):c.1597+1G>A
|
rs1563630117
|
|
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)
|
rs397517920
|
|
NM_000508.3(FGA):c.1717C>T (p.Arg573Cys)
|
rs121909613
|
|
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg)
|
rs1422505598
|
|
NM_000512.5(GALNS):c.319+2T>C
|
rs2143005067
|
|
NM_000512.5(GALNS):c.899-2A>C
|
rs1165218506
|
|
NM_000517.6(HBA2):c.301-1G>A
|
rs587776827
|
|
NM_000518.5(HBB):c.-138C>A
|
rs33944208
|
|
NM_000518.5(HBB):c.205C>T (p.Leu69Phe)
|
rs33961459
|
|
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer)
|
rs1555472553
|
|
NM_000520.6(HEXA):c.1499del (p.Leu500fs)
|
rs1567295184
|
|
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys)
|
rs748190164
|
|
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)
|
rs775920504
|
|
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
|
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
|
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe)
|
rs376459828
|
|
NM_000527.5(LDLR):c.671A>G (p.Asp224Gly)
|
rs879254630
|
|
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
|
|
|
NM_000528.4(MAN2B1):c.763+2_763+8del
|
rs1057517108
|
|
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)
|
rs1553259648
|
|
NM_000531.6(OTC):c.589G>A (p.Gly197Arg)
|
rs72556301
|
|
NM_000535.7(PMS2):c.1778del (p.Lys593fs)
|
rs766389591
|
|
NM_000535.7(PMS2):c.537+1G>A
|
rs863224450
|
|
NM_000535.7(PMS2):c.537+1del
|
rs1064793868
|
|
NM_000535.7(PMS2):c.538-2A>C
|
rs758304323
|
|
NM_000535.7(PMS2):c.904-2A>G
|
rs587781339
|
|
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)
|
rs909264507
|
|
NM_000537.4(REN):c.36GCT[3] (p.Leu16del)
|
rs1571652012
|
|
NM_000540.3(RYR1):c.12319del (p.Ile4107fs)
|
rs754572007
|
|
NM_000540.3(RYR1):c.12499G>T (p.Glu4167Ter)
|
rs772494345
|
|
NM_000540.3(RYR1):c.12978del (p.Glu4327fs)
|
rs1568582893
|
|
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln)
|
rs193922868
|
|
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)
|
rs118192150
|
|
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del)
|
rs1064794572
|
|
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter)
|
rs1440262870
|
|
NM_000540.3(RYR1):c.3964_3982dup (p.Asp1328fs)
|
rs1281542312
|
|
NM_000540.3(RYR1):c.7835+1G>A
|
rs1057524858
|
|
NM_000540.3(RYR1):c.7836-1G>A
|
rs1568507354
|
|
NM_000540.3(RYR1):c.7954dup (p.Trp2652fs)
|
rs1600842678
|
|
NM_000540.3(RYR1):c.8196del (p.Gly2733fs)
|
rs1600844997
|
|
NM_000540.3(RYR1):c.8929_8932+4delinsAAGCGG
|
rs1555786205
|
|
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg)
|
rs281860665
|
|
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His)
|
rs120074117
|
|
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro)
|
rs751269562
|
|
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)
|
rs371717826
|
|
NM_000545.8(HNF1A):c.1310-2A>G
|
rs2135847311
|
|
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)
|
rs1288094664
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000548.5(TSC2):c.138+5G>A
|
rs45481400
|
|
NM_000548.5(TSC2):c.2545+5G>C
|
rs1131691965
|
|
NM_000548.5(TSC2):c.2640-2A>G
|
rs137854380
|
|
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter)
|
rs397515087
|
|
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter)
|
rs1060499676
|
|
NM_000548.5(TSC2):c.5237A>C (p.His1746Pro)
|
rs2151631825
|
|
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)
|
rs397516440
|
|
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe)
|
rs61750083
|
|
NM_000553.6(WRN):c.1898+2T>G
|
rs772319506
|
|
NM_000553.6(WRN):c.3244del (p.Val1082fs)
|
rs745905108
|
|
NM_000553.6(WRN):c.3309+1G>T
|
rs1281075870
|
|
NM_000553.6(WRN):c.3590del (p.Asn1197fs)
|
rs281865160
|
|
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)
|
rs63749948
|
|
NM_000612.6(IGF2):c.100G>T (p.Gly34Cys)
|
rs1858937359
|
|
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)
|
rs1652003965
|
|
NM_000642.3(AGL):c.2158-2A>G
|
rs878959417
|
|
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)
|
rs767346840
|
|
NM_000642.3(AGL):c.2670del (p.Pro891fs)
|
rs764591009
|
|
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)
|
rs767529587
|
|
NM_000642.3(AGL):c.293+1del
|
rs777857395
|
|
NM_000642.3(AGL):c.294-2A>T
|
rs1057516868
|
|
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.454G>T (p.Glu152Ter)
|
rs1650125542
|
|
NM_000642.3(AGL):c.460+1G>A
|
rs930434905
|
|
NM_000642.3(AGL):c.861_864del (p.Ile288fs)
|
rs1571243699
|
|
NM_000685.5(AGTR1):c.599dup (p.Asn200fs)
|
rs1559934279
|
|
NM_000743.5(CHRNA3):c.1099C>T (p.Gln367Ter)
|
rs2141325372
|
|
NM_000760.4(CSF3R):c.843+2T>C
|
rs1650834071
|
|
NM_000789.4(ACE):c.3521del (p.Gly1174fs)
|
rs754265941
|
|
NM_000789.4(ACE):c.35TGC[1] (p.Leu13_Leu14del)
|
rs900084108
|
|
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del)
|
rs983649759
|
|
NM_000790.4(DDC):c.316del
|
rs1364054304
|
|
NM_001005242.3(PKP2):c.2168-1G>A
|
rs1060501184
|
|
NM_001005498.4(RHBDF2):c.479C>T (p.Pro160Leu)
|
rs387907130
|
|
NM_001008216.2(GALE):c.749del (p.Gly250fs)
|
rs1570630665
|
|
NM_001009944.3(PKD1):c.10698GGCTGT[2] (p.3567AV[2])
|
rs777460677
|
|
NM_001009944.3(PKD1):c.11017-10C>A
|
rs555703777
|
|
NM_001009944.3(PKD1):c.11176T>C (p.Trp3726Arg)
|
rs1555446411
|
|
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys)
|
rs2151698069
|
|
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)
|
rs1555445740
|
|
NM_001009944.3(PKD1):c.11537+2T>A
|
rs2151697557
|
|
NM_001009944.3(PKD1):c.11555T>C (p.Leu3852Pro)
|
rs2151695909
|
|
NM_001009944.3(PKD1):c.12004-2A>C
|
rs2091475604
|
|
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs)
|
rs2091411664
|
|
NM_001009944.3(PKD1):c.12724C>T (p.Gln4242Ter)
|
rs1181168635
|
|
NM_001009944.3(PKD1):c.1294G>A (p.Ala432Thr)
|
rs2092660647
|
|
NM_001009944.3(PKD1):c.1540_1549del (p.Thr514fs)
|
rs2151820655
|
|
NM_001009944.3(PKD1):c.1722+2T>C
|
rs886041836
|
|
NM_001009944.3(PKD1):c.2097+1G>A
|
rs2151816064
|
|
NM_001009944.3(PKD1):c.2716G>T (p.Glu906Ter)
|
rs2151812964
|
|
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del)
|
rs2151806438
|
|
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg)
|
rs2151801188
|
|
NM_001009944.3(PKD1):c.359+2T>G
|
rs2092683440
|
|
NM_001009944.3(PKD1):c.3716ACA[1] (p.Asn1240del)
|
rs1567202750
|
|
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)
|
rs1567198691
|
|
NM_001009944.3(PKD1):c.4957C>T (p.Gln1653Ter)
|
rs1596557065
|
|
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del)
|
rs2151786683
|
|
NM_001009944.3(PKD1):c.694T>C (p.Cys232Arg)
|
rs2151824152
|
|
NM_001009944.3(PKD1):c.7927C>T (p.Arg2643Cys)
|
rs1452322332
|
|
NM_001009944.3(PKD1):c.8016+2T>C
|
rs1596536505
|
|
NM_001009944.3(PKD1):c.8263del (p.Asn2754_Leu2755insTer)
|
rs2151756041
|
|
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del)
|
rs1358948221
|
|
NM_001009944.3(PKD1):c.9047A>G (p.Gln3016Arg)
|
rs2151750082
|
|
NM_001009944.3(PKD1):c.9157G>A (p.Ala3053Thr)
|
rs200360336
|
|
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del)
|
rs869312944
|
|
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del)
|
rs2092020811
|
|
NM_001009944.3(PKD1):c.9924-1G>C
|
rs2151738493
|
|
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)
|
rs2125032674
|
|
NM_001018115.3(FANCD2):c.230del (p.Lys77fs)
|
rs770835633
|
|
NM_001018115.3(FANCD2):c.2605+2dup
|
rs2125048104
|
|
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter)
|
rs762724830
|
|
NM_001018115.3(FANCD2):c.302_303del (p.Glu101fs)
|
rs2124975164
|
|
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs)
|
rs1559399574
|
|
NM_001018115.3(FANCD2):c.3224+1G>T
|
rs1468320596
|
|
NM_001018115.3(FANCD2):c.64+2T>G
|
rs2124961184
|
|
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs)
|
rs2086865775
|
|
NM_001018115.3(FANCD2):c.92del (p.Lys31fs)
|
rs1378830983
|
|
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter)
|
rs752655158
|
|
NM_001038.6(SCNN1A):c.1439+1G>A
|
rs1369791519
|
|
NM_001038.6(SCNN1A):c.1522C>T (p.Arg508Ter)
|
rs137852634
|
|
NM_001038.6(SCNN1A):c.69del (p.Asn24fs)
|
rs1565488675
|
|
NM_001041.4(SI):c.2654_2657del (p.Asp885fs)
|
rs1221816681
|
|
NM_001041.4(SI):c.2737-1G>C
|
rs1294620045
|
|
NM_001041.4(SI):c.2865C>A (p.Cys955Ter)
|
rs2108202378
|
|
NM_001041.4(SI):c.635+2T>C
|
rs1185991890
|
|
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)
|
rs137854563
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)
|
rs199474786
|
|
NM_001042492.3(NF1):c.3198-2A>G
|
rs1131691089
|
|
NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)
|
rs1064794277
|
|
NM_001042492.3(NF1):c.4070del (p.Phe1357fs)
|
rs1555617354
|
|
NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs)
|
rs1567862349
|
|
NM_001042492.3(NF1):c.4725-1G>A
|
rs1555619391
|
|
NM_001042492.3(NF1):c.4760del (p.Ala1586_Leu1587insTer)
|
rs2151470108
|
|
NM_001042492.3(NF1):c.4980dup (p.Lys1661Ter)
|
rs2069329774
|
|
NM_001042492.3(NF1):c.6819+3del
|
rs2069728377
|
|
NM_001042492.3(NF1):c.7971-321C>G
|
rs2070316606
|
|
NM_001079802.2(FKTN):c.330dup (p.Thr111fs)
|
rs767865405
|
|
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)
|
rs760731888
|
|
NM_001079802.2(FKTN):c.648-1243G>T
|
rs1554754182
|
|
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)
|
rs377417974
|
|
NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter)
|
rs1443643776
|
|
NM_001080.3(ALDH5A1):c.665del (p.Gly222fs)
|
rs1759308366
|
|
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter)
|
rs201426128
|
|
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs)
|
rs774493547
|
|
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer)
|
rs2131697094
|
|
NM_001081.4(CUBN):c.4973del (p.Asn1658fs)
|
rs1588511533
|
|
NM_001101.5(ACTB):c.158A>G (p.Tyr53Cys)
|
rs2128241408
|
|
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs)
|
rs2054482551
|
|
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs)
|
rs907106559
|
|
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs)
|
rs1596324325
|
|
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)
|
rs551305056
|
|
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter)
|
rs761982725
|
|
NM_001114753.3(ENG):c.1273-2A>G
|
rs373842615
|
|
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs)
|
rs1830384910
|
|
NM_001114753.3(ENG):c.1687-1G>A
|
rs1554809106
|
|
NM_001114753.3(ENG):c.68-1G>A
|
rs878853659
|
|
NM_001122681.2(SH3BP2):c.1252C>A (p.Pro418Thr)
|
rs757336022
|
|
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs)
|
rs386833794
|
|
NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu)
|
rs13306668
|
|
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs)
|
rs2144711571
|
|
NM_001126108.2(SLC12A3):c.1261T>G (p.Cys421Gly)
|
rs28936387
|
|
NM_001126108.2(SLC12A3):c.1674G>A (p.Trp558Ter)
|
rs2144723074
|
|
NM_001126108.2(SLC12A3):c.1964G>T (p.Arg655Leu)
|
rs121909380
|
|
NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg)
|
rs2144733006
|
|
NM_001126108.2(SLC12A3):c.2872A>T (p.Arg958Trp)
|
rs773428143
|
|
NM_001126108.2(SLC12A3):c.505+5G>A
|
rs751112698
|
|
NM_001126108.2(SLC12A3):c.547_548dup (p.Ile184fs)
|
rs770513014
|
|
NM_001126108.2(SLC12A3):c.626G>C (p.Arg209Pro)
|
rs758035631
|
|
NM_001126108.2(SLC12A3):c.852+1G>A
|
rs2055084531
|
|
NM_001126108.2(SLC12A3):c.88G>T (p.Glu30Ter)
|
rs751675724
|
|
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala)
|
rs748920885
|
|
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)
|
rs727503940
|
|
NM_001127898.4(CLCN5):c.1564del (p.Ser522fs)
|
rs1933979876
|
|
NM_001127898.4(CLCN5):c.1676G>A (p.Trp559Ter)
|
rs1557194353
|
|
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg)
|
rs1933713383
|
|
NM_001128178.3(NPHP1):c.483del (p.Asp162fs)
|
rs1410236296
|
|
NM_001130987.2(DYSF):c.1002+4A>G
|
rs905322985
|
|
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)
|
rs750028300
|
|
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
|
rs886042379
|
|
NM_001130987.2(DYSF):c.5317+1G>A
|
rs773386253
|
|
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)
|
rs786205084
|
|
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
|
rs1786504555
|
|
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs)
|
rs1163874095
|
|
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)
|
rs797045223
|
|
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)
|
rs1355690902
|
|
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs)
|
rs780910490
|
|
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs)
|
rs868289171
|
|
NM_001142800.2(EYS):c.1961dup (p.Asn654fs)
|
rs749103801
|
|
NM_001142800.2(EYS):c.525_527del (p.Glu176del)
|
rs780433094
|
|
NM_001142800.2(EYS):c.749-1G>C
|
rs368159852
|
|
NM_001142800.2(EYS):c.8830del (p.Val2944fs)
|
rs776526721
|
|
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)
|
rs770748359
|
|
NM_001159699.2(FHL1):c.810dup (p.Cys271fs)
|
rs2073964376
|
|
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)
|
rs121908980
|
|
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)
|
rs2134626266
|
|
NM_001164277.2(SLC37A4):c.148+1G>A
|
rs1943672400
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
NM_001164508.2(NEB):c.17828del (p.Asn5943fs)
|
rs1560031341
|
|
NM_001164508.2(NEB):c.18504_18517del (p.Lys6168fs)
|
rs747282057
|
|
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs)
|
rs1553561211
|
|
NM_001164508.2(NEB):c.25297+1G>A
|
rs113525641
|
|
NM_001164508.2(NEB):c.3255+1G>T
|
rs375628303
|
|
NM_001164508.2(NEB):c.4507-1G>A
|
rs2154185810
|
|
NM_001164508.2(NEB):c.4623del (p.Ala1542fs)
|
rs1559039815
|
|
NM_001164508.2(NEB):c.5343+5G>A
|
rs2154175371
|
|
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter)
|
rs2154134234
|
|
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs)
|
rs878854368
|
|
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys)
|
rs121917964
|
|
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser)
|
rs2105889878
|
|
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg)
|
rs786205745
|
|
NM_001170629.2(CHD8):c.3882+1G>A
|
rs1555314736
|
|
NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg)
|
rs72653759
|
|
NM_001171.6(ABCC6):c.2338del (p.Leu780fs)
|
rs1596649191
|
|
NM_001171.6(ABCC6):c.3987dup (p.Ile1330fs)
|
rs1567465730
|
|
NM_001171.6(ABCC6):c.998+2_998+3del
|
rs72664204
|
|
NM_001173990.3(TMEM216):c.230-2A>G
|
rs1211592806
|
|
NM_001177316.2(SLC34A3):c.1248_1249del (p.Leu417fs)
|
rs757714479
|
|
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs)
|
rs397516633
|
|
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs)
|
rs1292551263
|
|
NM_001199799.2(ILDR1):c.745del (p.Ser249fs)
|
rs571007078
|
|
NM_001201543.2(FAM161A):c.1490C>G (p.Ser497Ter)
|
rs2105080547
|
|
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter)
|
rs748847284
|
|
NM_001204.7(BMPR2):c.1241G>A (p.Trp414Ter)
|
rs1085307317
|
|
NM_001232.4(CASQ2):c.213del (p.Gln71fs)
|
rs786205799
|
|
NM_001232.4(CASQ2):c.546del (p.Phe182fs)
|
rs763955301
|
|
NM_001232.4(CASQ2):c.940-1G>T
|
rs876657635
|
|
NM_001243133.2(NLRP3):c.2575T>C (p.Tyr859His)
|
rs2103174031
|
|
NM_001243279.3(ACSF3):c.583A>T (p.Lys195Ter)
|
rs1366314967
|
|
NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)
|
rs2151444797
|
|
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)
|
rs879253888
|
|
NM_001267550.2(TTN):c.101642C>G (p.Ser33881Ter)
|
rs2154136345
|
|
NM_001267550.2(TTN):c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal)
|
rs1689265228
|
|
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs)
|
rs770878165
|
|
NM_001267550.2(TTN):c.106049del (p.Thr35350fs)
|
rs1250336644
|
|
NM_001267550.2(TTN):c.107377+1G>C
|
rs112188483
|
|
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter)
|
rs373040154
|
|
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter)
|
rs2056330918
|
|
NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter)
|
rs1060500503
|
|
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)
|
rs1131691381
|
|
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)
|
rs727503602
|
|
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs)
|
rs2154184873
|
|
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)
|
rs794729278
|
|
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs)
|
rs1559561666
|
|
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)
|
rs764243269
|
|
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)
|
rs794729280
|
|
NM_001267550.2(TTN):c.66161-1G>C
|
rs1553627403
|
|
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs)
|
rs1476017129
|
|
NM_001267550.2(TTN):c.68308del (p.Thr22770fs)
|
rs1064796112
|
|
NM_001267550.2(TTN):c.72613del (p.Val24205fs)
|
rs1708996209
|
|
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs)
|
rs751319893
|
|
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer)
|
rs1064796390
|
|
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter)
|
rs794729382
|
|
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)
|
rs1553603036
|
|
NM_001267550.2(TTN):c.75663del (p.Lys25221fs)
|
rs1131691542
|
|
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter)
|
rs1707280155
|
|
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)
|
rs557312035
|
|
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter)
|
rs779874042
|
|
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs)
|
rs2154160971
|
|
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter)
|
rs869312119
|
|
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter)
|
rs1553560951
|
|
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)
|
rs878854428
|
|
NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter)
|
rs1060500457
|
|
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs)
|
rs869312081
|
|
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)
|
rs72648250
|
|
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs)
|
rs727503547
|
|
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter)
|
rs2154143423
|
|
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs)
|
rs748382770
|
|
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys)
|
rs1558225569
|
|
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)
|
rs863225119
|
|
NM_001277115.2(DNAH11):c.12934-1G>T
|
rs1554293484
|
|
NM_001277115.2(DNAH11):c.1710+1G>C
|
rs1784326790
|
|
NM_001277115.2(DNAH11):c.3791_3792del (p.Arg1264fs)
|
rs749926976
|
|
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val)
|
rs200930463
|
|
NM_001282225.2(ADA2):c.661_664del (p.Ala221fs)
|
rs766602945
|
|
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs)
|
rs1449687529
|
|
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs)
|
rs1363658406
|
|
NM_001289104.2(PRKCSH):c.564_567del (p.Glu189fs)
|
rs749223361
|
|
NM_001289104.2(PRKCSH):c.683+1G>A
|
rs2144837651
|
|
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)
|
rs1479104927
|
|
NM_001303.4(COX10):c.413_414del (p.Lys138fs)
|
rs2142182514
|
|
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr)
|
rs1064794727
|
|
NM_001349206.2(LPIN1):c.942del (p.Pro315fs)
|
rs1572770217
|
|
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)
|
rs797045586
|
|
NM_001351132.2(PEX5):c.135_147+33delinsC
|
rs2135880243
|
|
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter)
|
rs120074162
|
|
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)
|
rs1555954284
|
|
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs)
|
rs397518419
|
|
NM_001358921.2(COQ2):c.138dup (p.Ala47fs)
|
rs759310292
|
|
NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter)
|
rs2126177139
|
|
NM_001360.3(DHCR7):c.1066del (p.His356fs)
|
rs774291653
|
|
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)
|
rs781687341
|
|
NM_001360.3(DHCR7):c.1348del (p.Arg450fs)
|
rs886042362
|
|
NM_001360.3(DHCR7):c.356A>T (p.His119Leu)
|
rs28938174
|
|
NM_001360.3(DHCR7):c.861C>A (p.Asn287Lys)
|
rs766495775
|
|
NM_001360.3(DHCR7):c.963+2T>G
|
rs1057517070
|
|
NM_001363711.2(DUOX2):c.1873C>T (p.Arg625Ter)
|
rs770083296
|
|
NM_001363711.2(DUOX2):c.2654G>A (p.Arg885Gln)
|
rs181461079
|
|
NM_001364905.1(LRBA):c.1923_1924+11del
|
rs755373718
|
|
NM_001365088.1(SLC12A6):c.316+1G>A
|
rs1462170681
|
|
NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter)
|
rs1057516456
|
|
NM_001368397.1(FRMPD4):c.1657T>C (p.Cys553Arg)
|
rs886038209
|
|
NM_001369.3(DNAH5):c.3598+1G>A
|
rs2151920209
|
|
NM_001369.3(DNAH5):c.3675C>G (p.Tyr1225Ter)
|
rs769582678
|
|
NM_001369.3(DNAH5):c.4400dup (p.Leu1467fs)
|
rs1252973555
|
|
NM_001369.3(DNAH5):c.6739C>T (p.Gln2247Ter)
|
rs2151814430
|
|
NM_001369.3(DNAH5):c.8360_8361insT (p.Lys2787fs)
|
rs1757084798
|
|
NM_001369.3(DNAH5):c.8528T>C (p.Phe2843Ser)
|
rs77377082
|
|
NM_001369.3(DNAH5):c.9975C>A (p.Cys3325Ter)
|
rs771715883
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs)
|
rs1578794927
|
|
NM_001372.4(DNAH9):c.308del (p.Phe103fs)
|
rs769795916
|
|
NM_001374353.1(GLI2):c.162_163del (p.Leu55fs)
|
rs778975466
|
|
NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val)
|
rs1793524609
|
|
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)
|
rs1057518287
|
|
NM_001378454.1(ALMS1):c.10079-1G>C
|
rs1361885101
|
|
NM_001378454.1(ALMS1):c.10384+1G>A
|
rs766366221
|
|
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)
|
rs1473611414
|
|
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs)
|
rs932538480
|
|
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs)
|
rs1247974278
|
|
NM_001378454.1(ALMS1):c.12299-1G>A
|
rs1313101326
|
|
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter)
|
rs1347176614
|
|
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter)
|
rs780843883
|
|
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs)
|
rs765764128
|
|
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs)
|
rs2104060044
|
|
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs)
|
rs1558648759
|
|
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs)
|
rs868776324
|
|
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter)
|
rs2103780557
|
|
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter)
|
rs1208636696
|
|
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs)
|
rs1553404020
|
|
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs)
|
rs1553404377
|
|
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs)
|
rs1553409617
|
|
NM_001378454.1(ALMS1):c.8117_8118delinsG (p.Glu2706fs)
|
rs1182262187
|
|
NM_001378454.1(ALMS1):c.9782-1G>A
|
rs1673992163
|
|
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter)
|
rs754690894
|
|
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs)
|
rs1560166511
|
|
NM_001379081.2(FREM1):c.2097_2100del (p.Lys699fs)
|
rs769407804
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)
|
rs2133817680
|
|
NM_001384140.1(PCDH15):c.4367+1G>A
|
rs1057516613
|
|
NM_001384474.1(LOXHD1):c.2773C>T (p.Gln925Ter)
|
rs2037495535
|
|
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs)
|
rs776345911
|
|
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs)
|
rs1561601398
|
|
NM_001384732.1(CPLANE1):c.3053dup (p.Val1019fs)
|
rs2150128669
|
|
NM_001384732.1(CPLANE1):c.3407del (p.Ser1136fs)
|
rs1561584225
|
|
NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu)
|
rs141153181
|
|
NM_001384732.1(CPLANE1):c.5337del (p.Ser1780fs)
|
rs777045246
|
|
NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer)
|
rs962476553
|
|
NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs)
|
rs747815682
|
|
NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs)
|
rs1779035528
|
|
NM_001386135.1(AFF3):c.698C>T (p.Ala233Val)
|
rs2104734977
|
|
NM_001386140.1(MTTP):c.141del (p.Gly49fs)
|
rs1228389182
|
|
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs)
|
rs2110230146
|
|
NM_001395413.1(POR):c.1320dup (p.Ile441fs)
|
rs786205875
|
|
NM_001399.5(EDA):c.1093G>A (p.Val365Met)
|
rs2147519270
|
|
NM_001399.5(EDA):c.181T>C (p.Tyr61His)
|
rs132630308
|
|
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter)
|
rs886037830
|
|
NM_001458.5(FLNC):c.3193-2A>G
|
rs749889670
|
|
NM_001609.4(ACADSB):c.653dup (p.Val219fs)
|
rs755014798
|
|
NM_001615.4(ACTG2):c.119G>A (p.Arg40His)
|
rs587777386
|
|
NM_001673.5(ASNS):c.1084T>G (p.Phe362Val)
|
rs398122973
|
|
NM_001673.5(ASNS):c.1320+1G>C
|
rs1791277284
|
|
NM_001692.4(ATP6V1B1):c.1004del (p.Val335fs)
|
rs1680634325
|
|
NM_001692.4(ATP6V1B1):c.136_160del (p.Ser46fs)
|
rs1553416787
|
|
NM_001692.4(ATP6V1B1):c.273+2T>A
|
rs1680488861
|
|
NM_001692.4(ATP6V1B1):c.27_28delinsC (p.Leu12fs)
|
rs1679840658
|
|
NM_001737.5(C9):c.1038_1042delinsT (p.Ser347fs)
|
rs1753477155
|
|
NM_001737.5(C9):c.1184_1185del (p.Ser395fs)
|
rs752437276
|
|
NM_001737.5(C9):c.162C>A (p.Cys54Ter)
|
rs34000044
|
|
NM_001754.5(RUNX1):c.292del (p.Leu98fs)
|
rs1569084170
|
|
NM_001754.5(RUNX1):c.508+2T>C
|
rs1601515707
|
|
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn)
|
rs144716013
|
|
NM_001814.6(CTSC):c.203T>G (p.Leu68Arg)
|
rs199474831
|
|
NM_001848.3(COL6A1):c.1575+1G>A
|
rs1002726737
|
|
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter)
|
rs1201247953
|
|
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)
|
rs750291363
|
|
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)
|
rs763199410
|
|
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)
|
rs772497399
|
|
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
|
rs201716417
|
|
NM_001875.5(CPS1):c.3336+1G>A
|
rs1700437565
|
|
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter)
|
rs2105908864
|
|
NM_001943.5(DSG2):c.1423+1G>T
|
rs1257877047
|
|
NM_001943.5(DSG2):c.1826dup (p.Leu610fs)
|
rs1039633976
|
|
NM_001943.5(DSG2):c.2257del (p.Ala753fs)
|
rs1567933176
|
|
NM_001943.5(DSG2):c.512_516del (p.Leu171fs)
|
rs1568105371
|
|
NM_001943.5(DSG2):c.523+1_523+2del
|
rs1598810829
|
|
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)
|
rs121913007
|
|
NM_001953.5(TYMP):c.214+1G>T
|
rs1200609783
|
|
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys)
|
rs886042041
|
|
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)
|
rs1555883505
|
|
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)
|
rs137854448
|
|
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer)
|
rs578184315
|
|
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)
|
rs2062673416
|
|
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)
|
rs137853071
|
|
NM_002334.4(LRP4):c.1560G>A (p.Trp520Ter)
|
rs1479002757
|
|
NM_002334.4(LRP4):c.409G>A (p.Asp137Asn)
|
rs267607222
|
|
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)
|
rs121908664
|
|
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp)
|
rs141178995
|
|
NM_002437.5(MPV17):c.375G>A (p.Arg125=)
|
rs1064793178
|
|
NM_002473.6(MYH9):c.2152C>T (p.Arg718Trp)
|
rs1184544985
|
|
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln)
|
rs267606902
|
|
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)
|
rs2129744741
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)
|
rs762664474
|
|
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs)
|
rs1445075330
|
|
NM_002576.5(PAK1):c.428T>C (p.Met143Thr)
|
rs1949512290
|
|
NM_002585.4(PBX1):c.265+1G>A
|
rs2101688490
|
|
NM_002734.5(PRKAR1A):c.1003C>T (p.Arg335Cys)
|
rs1555815121
|
|
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)
|
rs876657651
|
|
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)
|
rs397507539
|
|
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)
|
rs397507540
|
|
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)
|
rs2038154558
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
NM_002878.4(RAD51D):c.623dup (p.Thr209fs)
|
rs1555567610
|
|
NM_002887.4(RARS1):c.2T>C (p.Met1Thr)
|
rs769713780
|
|
NM_003002.4(SDHD):c.315-1G>A
|
rs1555187566
|
|
NM_003052.5(SLC34A1):c.458G>T (p.Gly153Val)
|
rs769409705
|
|
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del)
|
rs386134215
|
|
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile)
|
rs267607053
|
|
NM_003060.4(SLC22A5):c.497+2T>A
|
rs1752229268
|
|
NM_003060.4(SLC22A5):c.844dup (p.Arg282fs)
|
rs386134209
|
|
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln)
|
rs281875188
|
|
NM_003114.5(SPAG1):c.1282_1294del (p.Ala428fs)
|
rs973819096
|
|
NM_003114.5(SPAG1):c.1285_1294dup (p.Ala432fs)
|
rs918324226
|
|
NM_003172.4(SURF1):c.808_822dup (p.Glu270_Tyr274dup)
|
rs782788600
|
|
NM_003235.5(TG):c.7007G>A (p.Arg2336Gln)
|
rs121912650
|
|
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)
|
rs1060502827
|
|
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)
|
rs1555360047
|
|
NM_003282.4(TNNI2):c.524AGA[1] (p.Lys176del)
|
rs199474801
|
|
NM_003361.4(UMOD):c.249C>G (p.Cys83Trp)
|
rs1449715458
|
|
NM_003361.4(UMOD):c.272_274del (p.Ser91del)
|
rs1965755740
|
|
NM_003361.4(UMOD):c.376T>C (p.Cys126Arg)
|
rs121917769
|
|
NM_003361.4(UMOD):c.610C>G (p.Arg204Gly)
|
rs1567310019
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
NM_003401.5(XRCC4):c.25del (p.His9fs)
|
rs869320677
|
|
NM_003401.5(XRCC4):c.265del (p.Ser89fs)
|
rs772562216
|
|
NM_003467.3(CXCR4):c.950_953del (p.Leu317fs)
|
rs1573613529
|
|
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter)
|
rs1064796807
|
|
NM_003640.5(ELP1):c.1461-1G>T
|
rs539544212
|
|
NM_003640.5(ELP1):c.1854+1G>A
|
rs1554696934
|
|
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs)
|
rs1341613149
|
|
NM_003640.5(ELP1):c.304-2A>G
|
rs757972943
|
|
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs)
|
rs769748960
|
|
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)
|
rs1827767235
|
|
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs)
|
rs1446325480
|
|
NM_003640.5(ELP1):c.641del (p.Pro214fs)
|
rs759412460
|
|
NM_003647.3(DGKE):c.1068_1071del (p.Asn356fs)
|
rs764747885
|
|
NM_003647.3(DGKE):c.1442dup (p.Val482fs)
|
rs1567825026
|
|
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter)
|
rs1746480237
|
|
NM_003742.4(ABCB11):c.150+3A>C
|
rs387906354
|
|
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs)
|
rs1692870573
|
|
NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys)
|
rs1559183717
|
|
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter)
|
rs549450795
|
|
NM_003982.4(SLC7A7):c.106_108del (p.Glu36del)
|
rs386833796
|
|
NM_003982.4(SLC7A7):c.1395del (p.Glu465fs)
|
rs1290445670
|
|
NM_003982.4(SLC7A7):c.770+1del
|
rs2139394672
|
|
NM_003982.4(SLC7A7):c.88C>T (p.Gln30Ter)
|
rs2138663895
|
|
NM_003982.4(SLC7A7):c.894+1G>T
|
rs386833827
|
|
NM_004006.3(DMD):c.1375G>T (p.Glu459Ter)
|
rs2149350253
|
|
NM_004048.4(B2M):c.67+1G>T
|
rs863225287
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
NM_004168.4(SDHA):c.1663+1G>A
|
rs766667009
|
|
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)
|
rs750380279
|
|
NM_004168.4(SDHA):c.456+1G>A
|
rs1579384604
|
|
NM_004168.4(SDHA):c.484del (p.Arg162fs)
|
rs1734988578
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004260.4(RECQL4):c.2412_2420del (p.Ala805_Arg807del)
|
rs766312203
|
|
NM_004260.4(RECQL4):c.644_645del (p.Glu215fs)
|
rs1586824938
|
|
NM_004268.5(MED17):c.1112T>C (p.Leu371Pro)
|
rs267607232
|
|
NM_004268.5(MED17):c.1299_1302del (p.Ala435fs)
|
rs763249105
|
|
NM_004268.5(MED17):c.1360C>T (p.Arg454Ter)
|
rs776884086
|
|
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)
|
rs1554875409
|
|
NM_004320.6(ATP2A1):c.2574C>A (p.Tyr858Ter)
|
rs368234110
|
|
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)
|
rs397507475
|
|
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)
|
rs397516895
|
|
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)
|
rs180177042
|
|
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)
|
rs397507466
|
|
NM_004360.5(CDH1):c.1145del (p.Gly382fs)
|
rs1555515863
|
|
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg)
|
rs587780537
|
|
NM_004366.6(CLCN2):c.668_672del (p.Leu223fs)
|
rs756385625
|
|
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)
|
rs1767310072
|
|
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe)
|
rs2151316542
|
|
NM_004387.4(NKX2-5):c.783del (p.Ala262fs)
|
rs587784067
|
|
NM_004415.4(DSP):c.170+1G>A
|
rs1309931610
|
|
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs)
|
rs1561698362
|
|
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)
|
rs1554108410
|
|
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)
|
rs1561702640
|
|
NM_004453.4(ETFDH):c.1073G>A (p.Arg358Lys)
|
rs796051959
|
|
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)
|
rs549150456
|
|
NM_004525.3(LRP2):c.11323C>T (p.Arg3775Ter)
|
rs372938477
|
|
NM_004525.3(LRP2):c.13139del (p.Pro4380fs)
|
rs80338754
|
|
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs)
|
rs80338754
|
|
NM_004525.3(LRP2):c.832C>T (p.Arg278Ter)
|
rs1358532875
|
|
NM_004531.5(MOCS2):c.539_540del (p.Lys180fs)
|
rs398122797
|
|
NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp)
|
rs2118683688
|
|
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter)
|
rs1440010564
|
|
NM_004589.4(SCO1):c.261del (p.Ser88fs)
|
rs770131276
|
|
NM_004589.4(SCO1):c.364_364+1del
|
rs587776629
|
|
NM_004589.4(SCO1):c.521C>T (p.Pro174Leu)
|
rs104894630
|
|
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)
|
rs1384748892
|
|
NM_004629.2(FANCG):c.85-1G>A
|
rs1052044702
|
|
NM_004646.4(NPHS1):c.1020del (p.Ser341fs)
|
rs1555763372
|
|
NM_004646.4(NPHS1):c.1117C>T (p.Arg373Ter)
|
rs753535989
|
|
NM_004646.4(NPHS1):c.1334G>A (p.Trp445Ter)
|
rs1057516776
|
|
NM_004646.4(NPHS1):c.1745del (p.Lys582fs)
|
rs1057517021
|
|
NM_004646.4(NPHS1):c.2927+2T>A
|
rs1973023048
|
|
NM_004646.4(NPHS1):c.2989_2990dup (p.Phe998fs)
|
rs2146816256
|
|
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)
|
rs767887213
|
|
NM_004646.4(NPHS1):c.621del (p.Ser208fs)
|
rs2146828521
|
|
NM_004646.4(NPHS1):c.671dup (p.Glu225fs)
|
rs753394912
|
|
NM_004820.5(CYP7B1):c.1286dup (p.Lys430fs)
|
rs1060502224
|
|
NM_004836.7(EIF2AK3):c.3051dup (p.Leu1018fs)
|
rs2104387177
|
|
NM_004937.3(CTNS):c.682-1G>T
|
rs1057516771
|
|
NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu)
|
rs1984249721
|
|
NM_005052.3(RAC3):c.191A>G (p.Tyr64Cys)
|
rs2043443851
|
|
NM_005097.4(LGI1):c.1580_1581del (p.His527fs)
|
rs1364913665
|
|
NM_005188.4(CBL):c.1096-1G>C
|
rs397517076
|
|
NM_005220.3(DLX3):c.574del (p.Glu192fs)
|
rs1057518764
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
|
NM_005422.4(TECTA):c.102del (p.Asn34fs)
|
rs2135050168
|
|
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)
|
rs764698870
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005554.4(KRT6A):c.1381G>T (p.Glu461Ter)
|
rs267607468
|
|
NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys)
|
rs60554162
|
|
NM_005555.4(KRT6B):c.1381G>A (p.Glu461Lys)
|
rs267607473
|
|
NM_005557.4(KRT16):c.362T>C (p.Met121Thr)
|
rs28928894
|
|
NM_005557.4(KRT16):c.371T>A (p.Leu124His)
|
rs58293603
|
|
NM_005562.3(LAMC2):c.640+1G>A
|
rs1183519794
|
|
NM_005609.4(PYGM):c.2177+1G>A
|
rs751875471
|
|
NM_005609.4(PYGM):c.395_408del (p.Leu132fs)
|
rs1565538121
|
|
NM_005633.4(SOS1):c.3248dup (p.Arg1084fs)
|
rs387906518
|
|
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)
|
rs1131691331
|
|
NM_005687.5(FARSB):c.848+1G>A
|
rs777071414
|
|
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp)
|
rs764893806
|
|
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs)
|
rs587781327
|
|
NM_005732.4(RAD50):c.1722dup (p.Gln575fs)
|
rs587782543
|
|
NM_005732.4(RAD50):c.1966C>T (p.Arg656Ter)
|
rs749466673
|
|
NM_005732.4(RAD50):c.3372T>A (p.Tyr1124Ter)
|
rs775069541
|
|
NM_005732.4(RAD50):c.3612_3618+5del
|
rs995265408
|
|
NM_005857.5(ZMPSTE24):c.709G>T (p.Glu237Ter)
|
rs281875370
|
|
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter)
|
rs587777672
|
|
NM_005908.4(MANBA):c.549+1G>A
|
rs1334537145
|
|
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs)
|
rs764338697
|
|
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del)
|
rs777904670
|
|
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer)
|
rs1560419631
|
|
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])
|
rs797046113
|
|
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs)
|
rs1560422383
|
|
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter)
|
rs764993824
|
|
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala)
|
rs797045005
|
|
NM_006009.4(TUBA1A):c.958C>T (p.Arg320Cys)
|
rs1942168488
|
|
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg)
|
rs137853150
|
|
NM_006019.4(TCIRG1):c.1459del (p.Trp487fs)
|
rs2134455711
|
|
NM_006019.4(TCIRG1):c.1891del (p.Val631fs)
|
rs1300297240
|
|
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del)
|
rs780311417
|
|
NM_006059.4(LAMC3):c.809+2_809+8del
|
rs775851709
|
|
NM_006059.4(LAMC3):c.903_904del (p.Cys301_Glu302delinsTer)
|
rs761516738
|
|
NM_006073.4(TRDN):c.1233_1234dup (p.Lys412fs)
|
rs778198100
|
|
NM_006073.4(TRDN):c.391+1G>A
|
rs2114436209
|
|
NM_006073.4(TRDN):c.531del (p.Glu178fs)
|
rs1432170970
|
|
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)
|
rs587777428
|
|
NM_006121.4(KRT1):c.1453C>T (p.Leu485Phe)
|
rs1555171247
|
|
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp)
|
rs587784409
|
|
NM_006348.5(COG5):c.2T>G (p.Met1Arg)
|
rs375702393
|
|
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)
|
rs753679297
|
|
NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro)
|
rs121434236
|
|
NM_006493.4(CLN5):c.144dup (p.Ser49fs)
|
rs386833970
|
|
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)
|
rs13306758
|
|
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs)
|
rs2147833877
|
|
NM_006580.4(CLDN16):c.335_338dup (p.Lys113delinsAsnTer)
|
rs1253995767
|
|
NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp)
|
rs104893723
|
|
NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys)
|
rs1577432872
|
|
NM_006623.4(PHGDH):c.1078+1G>A
|
rs1224279673
|
|
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter)
|
rs964673995
|
|
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)
|
rs397515335
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)
|
rs151344514
|
|
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro)
|
rs869025191
|
|
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs)
|
rs1601878540
|
|
NM_006996.3(SLC19A2):c.807+2T>G
|
rs1234256852
|
|
NM_007194.4(CHEK2):c.684-2A>G
|
rs2053419665
|
|
NM_007194.4(CHEK2):c.793-1G>A
|
rs730881687
|
|
NM_007214.5(SEC63):c.1188_1191dup (p.Val398fs)
|
rs1787039042
|
|
NM_007214.5(SEC63):c.1605dup (p.Pro536fs)
|
rs752868449
|
|
NM_007214.5(SEC63):c.1864C>T (p.Arg622Ter)
|
rs2114403750
|
|
NM_007214.5(SEC63):c.1895C>A (p.Ser632Ter)
|
rs768615942
|
|
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter)
|
rs982113263
|
|
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)
|
rs864622444
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys)
|
rs1554770667
|
|
NM_012144.4(DNAI1):c.1307G>A (p.Trp436Ter)
|
rs769284314
|
|
NM_012144.4(DNAI1):c.817-2A>G
|
rs2132068900
|
|
NM_012203.2(GRHPR):c.-4_-3delinsAT
|
rs796052077
|
|
NM_012203.2(GRHPR):c.154del (p.Ala52fs)
|
rs751101495
|
|
NM_012203.2(GRHPR):c.214+2T>G
|
rs1057517398
|
|
NM_012203.2(GRHPR):c.597del (p.Phe199fs)
|
rs1057516292
|
|
NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs)
|
rs1564217246
|
|
NM_012210.4(TRIM32):c.1560del (p.Cys521fs)
|
rs1588218453
|
|
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs)
|
rs749696299
|
|
NM_012213.3(MLYCD):c.1A>T (p.Met1Leu)
|
rs1179555424
|
|
NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn)
|
rs377023736
|
|
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg)
|
rs119491110
|
|
NM_012452.3(TNFRSF13B):c.61+1G>A
|
rs1016142312
|
|
NM_013328.4(PYCR2):c.309del (p.Val104fs)
|
rs2102672892
|
|
NM_013328.4(PYCR2):c.356G>A (p.Arg119His)
|
rs149587849
|
|
NM_013339.4(ALG6):c.894AAT[1] (p.Ile299del)
|
rs387906338
|
|
NM_014049.5(ACAD9):c.15_40del (p.Leu6fs)
|
rs746312225
|
|
NM_014049.5(ACAD9):c.1846C>T (p.Pro616Ser)
|
rs863224845
|
|
NM_014140.4(SMARCAL1):c.1483C>T (p.Gln495Ter)
|
rs1553526228
|
|
NM_014140.4(SMARCAL1):c.1687C>T (p.Arg563Ter)
|
rs1694125419
|
|
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp)
|
rs1313658611
|
|
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp)
|
rs786205227
|
|
NM_014244.5(ADAMTS2):c.102_123dup (p.Ala42fs)
|
rs1757906798
|
|
NM_014251.3(SLC25A13):c.754G>A (p.Glu252Lys)
|
rs973986984
|
|
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg)
|
rs202247805
|
|
NM_014270.5(SLC7A9):c.225C>T (p.Leu75=)
|
rs753121162
|
|
NM_014270.5(SLC7A9):c.749+1G>C
|
rs1060499787
|
|
NM_014297.5(ETHE1):c.43C>T (p.Gln15Ter)
|
rs2146021370
|
|
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)
|
rs781491486
|
|
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs)
|
rs1555249648
|
|
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs)
|
rs777723411
|
|
NM_014425.5(INVS):c.2786+2T>C
|
rs1322951938
|
|
NM_014425.5(INVS):c.497_512dup (p.His171fs)
|
rs779545419
|
|
NM_014491.4(FOXP2):c.1426C>T (p.Arg476Ter)
|
rs1178491246
|
|
NM_014585.6(SLC40A1):c.470A>G (p.Asp157Gly)
|
rs104893663
|
|
NM_014625.4(NPHS2):c.738+1G>A
|
rs1673954981
|
|
NM_014625.4(NPHS2):c.928G>A (p.Glu310Lys)
|
rs1673254835
|
|
NM_014625.4(NPHS2):c.95_96insTA (p.Gly33fs)
|
rs1057516880
|
|
NM_014639.4(SKIC3):c.1757+1G>A
|
rs570910902
|
|
NM_014714.4(IFT140):c.1359_1359+3delinsAC
|
rs2141816540
|
|
NM_014714.4(IFT140):c.2068-2A>G
|
rs1489989834
|
|
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs)
|
rs1415763185
|
|
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter)
|
rs1471379682
|
|
NM_014714.4(IFT140):c.2655del (p.Trp885fs)
|
rs762111572
|
|
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer)
|
rs2141179932
|
|
NM_014714.4(IFT140):c.2948del (p.Asp983fs)
|
rs2141172226
|
|
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs)
|
rs765669703
|
|
NM_014946.4(SPAST):c.1196C>T (p.Ser399Leu)
|
rs1553317025
|
|
NM_014946.4(SPAST):c.1536G>T (p.Glu512Asp)
|
rs1553319093
|
|
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter)
|
rs1323529877
|
|
NM_014956.5(CEP164):c.3749-2A>G
|
rs1482717760
|
|
NM_014956.5(CEP164):c.381dup (p.Lys128fs)
|
rs747914869
|
|
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs)
|
rs756288878
|
|
NM_014967.5(FAN1):c.332del (p.Pro111fs)
|
rs2140895653
|
|
NM_014967.5(FAN1):c.922_923del (p.Val308fs)
|
rs774499986
|
|
NM_015102.5(NPHP4):c.1421_1423delinsCGTGG (p.Lys474fs)
|
rs1553178047
|
|
NM_015102.5(NPHP4):c.2007del (p.Phe670fs)
|
rs1235304713
|
|
NM_015102.5(NPHP4):c.2908dup (p.Leu970fs)
|
rs1168286961
|
|
NM_015102.5(NPHP4):c.3083del (p.Gly1028fs)
|
rs1557616007
|
|
NM_015102.5(NPHP4):c.3409_3412del (p.Tyr1137fs)
|
rs762371581
|
|
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs)
|
rs781558715
|
|
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)
|
rs80358242
|
|
NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter)
|
rs1553280067
|
|
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs)
|
rs749987648
|
|
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)
|
rs1966902456
|
|
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter)
|
rs1037406858
|
|
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)
|
rs767686118
|
|
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter)
|
rs145807002
|
|
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs)
|
rs1966218490
|
|
NM_015272.5(RPGRIP1L):c.2958+1G>T
|
rs2151056579
|
|
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs)
|
rs797045104
|
|
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter)
|
rs564992297
|
|
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs)
|
rs757594906
|
|
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs)
|
rs1555912897
|
|
NM_015346.4(ZFYVE26):c.5321-2A>G
|
rs1555395560
|
|
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)
|
rs768409471
|
|
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)
|
rs1311416761
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs)
|
rs2149323805
|
|
NM_015627.3(LDLRAP1):c.112_113del (p.Thr38fs)
|
rs763778803
|
|
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs)
|
rs1201229554
|
|
NM_015629.4(PRPF31):c.239-1G>T
|
rs2073798309
|
|
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg)
|
rs2073926924
|
|
NM_015631.6(TCTN3):c.256+2_256+7del
|
rs1224169161
|
|
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer)
|
rs553175533
|
|
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter)
|
rs1329856696
|
|
NM_015713.5(RRM2B):c.455+1G>A
|
rs2132555188
|
|
NM_015909.4(NBAS):c.2950del (p.Ile984fs)
|
rs776797592
|
|
NM_015909.4(NBAS):c.603_605del (p.Leu202del)
|
rs796065038
|
|
NM_015910.7(WDPCP):c.547A>T (p.Lys183Ter)
|
rs2105500878
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)
|
rs1160669103
|
|
NM_016222.4(DDX41):c.305_306del (p.Lys102fs)
|
rs760059747
|
|
NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs)
|
rs2142363190
|
|
NM_016356.5(DCDC2):c.970dup (p.Ala324fs)
|
rs774115675
|
|
NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro)
|
rs199476398
|
|
NM_016604.4(KDM3B):c.2693T>C (p.Phe898Ser)
|
rs1762477174
|
|
NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys)
|
rs267607036
|
|
NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter)
|
rs1309003036
|
|
NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn)
|
rs199469631
|
|
NM_017649.5(CNNM2):c.1804C>T (p.Arg602Ter)
|
rs2134338484
|
|
NM_017739.4(POMGNT1):c.1027-2_1027-1del
|
rs1057516536
|
|
NM_017739.4(POMGNT1):c.1694_1695del (p.Ser565fs)
|
rs1057516903
|
|
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)
|
rs1377452635
|
|
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)
|
rs781423785
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met)
|
rs1064793083
|
|
NM_017802.4(DNAAF5):c.2108_2114delinsCCACCCTGGGT (p.Met703fs)
|
rs1554255966
|
|
NM_017802.4(DNAAF5):c.926G>A (p.Trp309Ter)
|
rs1489856215
|
|
NM_017909.4(RMND1):c.1235_1238del (p.Leu412fs)
|
rs769890347
|
|
NM_017947.4(MOCOS):c.1088_1089del (p.Leu363fs)
|
rs761752580
|
|
NM_017950.4(CCDC40):c.2712-1G>T
|
rs370706991
|
|
NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter)
|
rs1568667609
|
|
NM_018006.5(TRMU):c.1019-1G>A
|
rs773484808
|
|
NM_018006.5(TRMU):c.333dup (p.His112fs)
|
rs756600903
|
|
NM_018006.5(TRMU):c.356-2_356-1del
|
rs2147053913
|
|
NM_018006.5(TRMU):c.87C>G (p.Tyr29Ter)
|
rs769668643
|
|
NM_018062.4(FANCL):c.40del (p.Leu14fs)
|
rs761039364
|
|
NM_018105.3(THAP1):c.86G>C (p.Arg29Pro)
|
rs767952378
|
|
NM_018122.5(DARS2):c.128-1G>T
|
rs267598175
|
|
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs)
|
rs587783263
|
|
NM_018136.5(ASPM):c.9324del (p.Leu3109fs)
|
rs1163303148
|
|
NM_018417.6(ADCY10):c.2215G>T (p.Glu739Ter)
|
rs1407377211
|
|
NM_018418.5(SPATA7):c.1199_1203del (p.Asn400fs)
|
rs1436269510
|
|
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp)
|
rs137962226
|
|
NM_018706.7(DHTKD1):c.2457_2458del (p.Glu821fs)
|
rs1271803838
|
|
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)
|
rs1014959895
|
|
NM_019109.5(ALG1):c.1145T>C (p.Met382Thr)
|
rs1596261268
|
|
NM_019616.4(F7):c.1325del (p.Pro442fs)
|
rs750457207
|
|
NM_019616.4(F7):c.739+3_739+6del
|
rs754785708
|
|
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs)
|
rs1714102462
|
|
NM_020166.5(MCCC1):c.640-1G>A
|
rs727504005
|
|
NM_020166.5(MCCC1):c.90-1G>C
|
rs1718608300
|
|
NM_020320.5(RARS2):c.1554del (p.Arg519fs)
|
rs754610170
|
|
NM_020320.5(RARS2):c.1A>G (p.Met1Val)
|
rs774923951
|
|
NM_020320.5(RARS2):c.2T>G (p.Met1Arg)
|
rs199862050
|
|
NM_020320.5(RARS2):c.772-1G>A
|
rs2128057942
|
|
NM_020320.5(RARS2):c.928dup (p.Ile310fs)
|
rs1360282089
|
|
NM_020458.4(TTC7A):c.192del (p.Phe64fs)
|
rs1476031758
|
|
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter)
|
rs1584907924
|
|
NM_020632.3(ATP6V0A4):c.292-1G>A
|
rs776867749
|
|
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter)
|
rs863225293
|
|
NM_020975.6(RET):c.1947G>A (p.Ser649=)
|
rs377767412
|
|
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys)
|
rs1064794533
|
|
NM_021615.5(CHST6):c.847_848delinsTG (p.Glu283Ter)
|
rs2151665554
|
|
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)
|
rs111033574
|
|
NM_021871.4(FGA):c.922C>T (p.Arg308Ter)
|
rs776817952
|
|
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)
|
rs121434506
|
|
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter)
|
rs1057519289
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT
|
rs1589384283
|
|
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)
|
rs886043524
|
|
NM_022132.5(MCCC2):c.689del (p.Asn230fs)
|
rs2112412398
|
|
NM_022445.4(TPK1):c.664G>C (p.Asp222His)
|
rs368458768
|
|
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs)
|
rs2149843640
|
|
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs)
|
rs1581535570
|
|
NM_022489.4(INF2):c.1735+1G>A
|
rs2140670271
|
|
NM_022489.4(INF2):c.652C>T (p.Arg218Trp)
|
rs267606878
|
|
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu)
|
rs121909641
|
|
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter)
|
rs1554570813
|
|
NM_023110.3(FGFR1):c.448+1G>A
|
rs376416531
|
|
NM_023110.3(FGFR1):c.448+1G>C
|
rs376416531
|
|
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly)
|
rs727505369
|
|
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter)
|
rs200888240
|
|
NM_024079.5(ALG8):c.761dup (p.Pro255fs)
|
rs968741434
|
|
NM_024079.5(ALG8):c.802del (p.Arg268fs)
|
rs2136899636
|
|
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp)
|
rs121908294
|
|
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)
|
rs1599939853
|
|
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)
|
rs1555738753
|
|
NM_024422.6(DSC2):c.2250+2T>C
|
rs1064793731
|
|
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter)
|
rs397517406
|
|
NM_024422.6(DSC2):c.880del (p.Leu294fs)
|
rs1451144520
|
|
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln)
|
rs1603379779
|
|
NM_024570.4(RNASEH2B):c.136+1del
|
rs75186889
|
|
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)
|
rs74555752
|
|
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter)
|
rs1580901350
|
|
NM_024577.4(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp)
|
rs863224781
|
|
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs)
|
rs786205124
|
|
NM_024598.4(USB1):c.63del (p.Met22fs)
|
rs747958554
|
|
NM_024649.5(BBS1):c.1608+1G>A
|
rs1856758582
|
|
NM_024649.5(BBS1):c.319dup (p.Ala107fs)
|
rs1856010064
|
|
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs)
|
rs1555460334
|
|
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2878del (p.Leu960fs)
|
rs1064795824
|
|
NM_024685.4(BBS10):c.1122dup (p.Ile375fs)
|
rs753604828
|
|
NM_024685.4(BBS10):c.197+1G>T
|
rs886042729
|
|
NM_024685.4(BBS10):c.445dup (p.Leu149fs)
|
rs770053320
|
|
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)
|
rs863224522
|
|
NM_024685.4(BBS10):c.84C>A (p.Cys28Ter)
|
rs1476664656
|
|
NM_024740.2(ALG9):c.701+1G>A
|
rs2137107185
|
|
NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter)
|
rs1685080096
|
|
NM_024996.7(GFM1):c.273del (p.Met92fs)
|
rs863224033
|
|
NM_024996.7(GFM1):c.690_693del
|
rs778902849
|
|
NM_025074.7(FRAS1):c.1931del (p.Gly644fs)
|
rs794727195
|
|
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter)
|
rs1733155852
|
|
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter)
|
rs775517752
|
|
NM_025074.7(FRAS1):c.9123_9124del (p.Thr3041_Ile3042insTer)
|
rs1263546070
|
|
NM_025099.6(CTC1):c.248_251dup (p.His84fs)
|
rs745467709
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)
|
rs897997464
|
|
NM_025114.4(CEP290):c.1359+1G>A
|
rs935130451
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)
|
rs2137423759
|
|
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)
|
rs886042467
|
|
NM_025114.4(CEP290):c.3285del (p.Phe1095fs)
|
rs1017496924
|
|
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs)
|
rs2036977719
|
|
NM_025114.4(CEP290):c.369del (p.Gln123fs)
|
rs773622064
|
|
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)
|
rs587779733
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_025114.4(CEP290):c.583_584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
|
rs781310385
|
|
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)
|
rs2033254449
|
|
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter)
|
rs1219184437
|
|
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)
|
rs773642187
|
|
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
|
rs45502896
|
|
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter)
|
rs775181779
|
|
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs)
|
rs1421636172
|
|
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter)
|
rs1401145684
|
|
NM_025132.4(WDR19):c.961+2T>C
|
rs1728876351
|
|
NM_025137.4(SPG11):c.5866_5866+4del
|
rs771346977
|
|
NM_025137.4(SPG11):c.6754+2_6754+3dup
|
rs759090170
|
|
NM_025216.3(WNT10A):c.694del (p.Arg232fs)
|
rs1575233692
|
|
NM_025216.3(WNT10A):c.814C>T (p.Gln272Ter)
|
rs773036759
|
|
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter)
|
rs560987504
|
|
NM_030943.4(AMN):c.760+1G>A
|
rs1555381485
|
|
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His)
|
rs863223403
|
|
NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs)
|
rs750146549
|
|
NM_031885.5(BBS2):c.472del
|
rs587777826
|
|
NM_031885.5(BBS2):c.774del (p.Asn258fs)
|
rs777218224
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.508-1G>T
|
rs864622277
|
|
NM_032043.3(BRIP1):c.903del (p.Leu301fs)
|
rs876659490
|
|
NM_032229.3(SLITRK6):c.890C>A (p.Ser297Ter)
|
rs587777070
|
|
NM_032383.5(HPS3):c.660_661del (p.Arg220fs)
|
rs1363164647
|
|
NM_032520.5(GNPTG):c.234-1G>A
|
rs112850896
|
|
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del)
|
rs193302849
|
|
NM_032578.4(MYPN):c.295C>T (p.Arg99Ter)
|
rs756823228
|
|
NM_032634.4(PIGO):c.2869C>T (p.Leu957Phe)
|
rs142164373
|
|
NM_032888.4(COL27A1):c.1216C>T (p.Gln406Ter)
|
rs1849088219
|
|
NM_032888.4(COL27A1):c.62+1del
|
rs756877794
|
|
NM_033028.5(BBS4):c.24+1G>T
|
rs759520211
|
|
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer)
|
rs1233449433
|
|
NM_033163.5(FGF8):c.356C>T (p.Thr119Met)
|
rs876661329
|
|
NM_033305.3(VPS13A):c.2500del (p.Val834fs)
|
rs2131325474
|
|
NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs)
|
rs2131427489
|
|
NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter)
|
rs756865623
|
|
NM_033380.3(COL4A5):c.1226G>C (p.Gly409Ala)
|
rs104886101
|
|
NM_033380.3(COL4A5):c.1339+1G>A
|
rs878853114
|
|
NM_033380.3(COL4A5):c.1543G>A (p.Gly515Arg)
|
rs2147809070
|
|
NM_033380.3(COL4A5):c.1727G>A (p.Gly576Asp)
|
rs2147810410
|
|
NM_033380.3(COL4A5):c.1877G>T (p.Gly626Val)
|
rs104886143
|
|
NM_033380.3(COL4A5):c.2042-2A>G
|
rs2066636714
|
|
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1])
|
rs104886356
|
|
NM_033380.3(COL4A5):c.2723G>A (p.Gly908Glu)
|
rs878853089
|
|
NM_033380.3(COL4A5):c.2794G>A (p.Gly932Arg)
|
rs2147865597
|
|
NM_033380.3(COL4A5):c.3016+2T>C
|
rs2147869403
|
|
NM_033380.3(COL4A5):c.3152G>T (p.Gly1051Val)
|
rs1603298993
|
|
NM_033380.3(COL4A5):c.3293G>A (p.Gly1098Asp)
|
rs1603306716
|
|
NM_033380.3(COL4A5):c.3346G>A (p.Gly1116Arg)
|
rs2147935344
|
|
NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val)
|
rs281874713
|
|
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys)
|
rs1569505374
|
|
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp)
|
rs1131691795
|
|
NM_033380.3(COL4A5):c.3445G>C (p.Gly1149Arg)
|
rs2147953060
|
|
NM_033380.3(COL4A5):c.3509G>A (p.Gly1170Asp)
|
rs1060499710
|
|
NM_033380.3(COL4A5):c.3584dup (p.Gly1196fs)
|
rs2147956419
|
|
NM_033380.3(COL4A5):c.367G>C (p.Gly123Arg)
|
rs1569488426
|
|
NM_033380.3(COL4A5):c.3712G>A (p.Gly1238Ser)
|
rs2147959471
|
|
NM_033380.3(COL4A5):c.4106del (p.Gly1369fs)
|
rs1569507535
|
|
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp)
|
rs281874735
|
|
NM_033380.3(COL4A5):c.4325G>A (p.Gly1442Asp)
|
rs2147991184
|
|
NM_033380.3(COL4A5):c.4360G>A (p.Gly1454Ser)
|
rs104886279
|
|
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)
|
rs281874743
|
|
NM_033380.3(COL4A5):c.4709G>T (p.Cys1570Phe)
|
rs104886287
|
|
NM_033380.3(COL4A5):c.4769C>T (p.Pro1590Leu)
|
rs281874747
|
|
NM_033380.3(COL4A5):c.4804G>A (p.Gly1602Ser)
|
rs104886424
|
|
NM_033380.3(COL4A5):c.4962G>A (p.Trp1654Ter)
|
rs2068718016
|
|
NM_033380.3(COL4A5):c.5051G>A (p.Cys1684Tyr)
|
rs2148003771
|
|
NM_033380.3(COL4A5):c.511G>C (p.Gly171Arg)
|
rs1556404027
|
|
NM_033380.3(COL4A5):c.619G>C (p.Gly207Arg)
|
rs1569490379
|
|
NM_033380.3(COL4A5):c.637G>C (p.Gly213Arg)
|
rs267606310
|
|
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala)
|
rs1569490592
|
|
NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu)
|
rs2147776175
|
|
NM_033380.3(COL4A5):c.891+1G>T
|
rs104886451
|
|
NM_033380.3(COL4A5):c.919G>A (p.Gly307Ser)
|
rs2147777425
|
|
NM_033380.3(COL4A5):c.91G>T (p.Gly31Trp)
|
rs2147657533
|
|
NM_033380.3(COL4A5):c.935del (p.Pro312fs)
|
rs1556407078
|
|
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)
|
rs762292772
|
|
NM_033629.6(TREX1):c.144dup (p.Thr49fs)
|
rs748914604
|
|
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs)
|
rs1331920811
|
|
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
|
rs79318303
|
|
NM_052813.5(CARD9):c.1351_1354del (p.Asp451fs)
|
rs746470735
|
|
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs)
|
rs753802842
|
|
NM_052867.4(NALCN):c.4755+1G>T
|
rs1158141270
|
|
NM_052989.3(IFT122):c.273-281_273-271del
|
rs1559868433
|
|
NM_057176.3(BSND):c.272+1G>T
|
rs1007109925
|
|
NM_058216.3(RAD51C):c.146-2A>G
|
rs1555593457
|
|
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter)
|
rs1555593616
|
|
NM_058216.3(RAD51C):c.405-1G>C
|
rs587782036
|
|
NM_058216.3(RAD51C):c.705+1G>A
|
rs876658644
|
|
NM_058216.3(RAD51C):c.706-2A>C
|
rs587780259
|
|
NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer)
|
rs1597834560
|
|
NM_130810.4(DNAAF4):c.523del (p.Ile175fs)
|
rs751610886
|
|
NM_130849.4(SLC39A4):c.1465_1474+4del
|
rs782563835
|
|
NM_130849.4(SLC39A4):c.475-2A>G
|
rs1554873649
|
|
NM_130849.4(SLC39A4):c.862del (p.Gly287_Val288insTer)
|
rs2130799141
|
|
NM_130849.4(SLC39A4):c.977-1G>A
|
rs2130798128
|
|
NM_138413.4(HOGA1):c.10_11insTGGTC (p.Pro4fs)
|
rs924232072
|
|
NM_138413.4(HOGA1):c.603+1G>A
|
rs2135722313
|
|
NM_138413.4(HOGA1):c.834+2T>C
|
rs947352856
|
|
NM_138694.4(PKHD1):c.10086_10087delinsC (p.Gly3363fs)
|
rs1554216538
|
|
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)
|
rs148300854
|
|
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)
|
rs1562040783
|
|
NM_138694.4(PKHD1):c.11747C>G (p.Ser3916Ter)
|
rs760426769
|
|
NM_138694.4(PKHD1):c.2264C>T (p.Pro755Leu)
|
rs1057517158
|
|
NM_138694.4(PKHD1):c.2299_2306delinsTCTG (p.Thr767fs)
|
rs1064796287
|
|
NM_138694.4(PKHD1):c.2452C>T (p.Gln818Ter)
|
rs398124480
|
|
NM_138694.4(PKHD1):c.2592+1G>C
|
rs758812102
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_138694.4(PKHD1):c.2946del (p.Cys983fs)
|
rs1581910835
|
|
NM_138694.4(PKHD1):c.3518del (p.Arg1173fs)
|
rs2128152615
|
|
NM_138694.4(PKHD1):c.3694_3725del (p.Val1232fs)
|
rs1057516762
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.4005del (p.Cys1336fs)
|
rs1802073525
|
|
NM_138694.4(PKHD1):c.4118dup (p.Met1373fs)
|
rs752305132
|
|
NM_138694.4(PKHD1):c.4492_4494delinsAG (p.Ser1498_Leu1499insTer)
|
rs1581806935
|
|
NM_138694.4(PKHD1):c.5069C>A (p.Ser1690Ter)
|
rs1801882752
|
|
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly)
|
rs1210846081
|
|
NM_138694.4(PKHD1):c.5935G>A (p.Gly1979Arg)
|
rs1583446897
|
|
NM_138694.4(PKHD1):c.6104del (p.Gly2035fs)
|
rs2127768101
|
|
NM_138694.4(PKHD1):c.6383T>G (p.Leu2128Ter)
|
rs1783006864
|
|
NM_138694.4(PKHD1):c.6809-2A>G
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.7264T>C (p.Cys2422Arg)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.7350+1G>T
|
rs1057516588
|
|
NM_138694.4(PKHD1):c.8151del (p.Gly2718fs)
|
rs1769233531
|
|
NM_138694.4(PKHD1):c.8239G>T (p.Glu2747Ter)
|
rs794727756
|
|
NM_138694.4(PKHD1):c.8518C>G (p.Arg2840Gly)
|
rs200432861
|
|
NM_138694.4(PKHD1):c.8950+1G>T
|
rs1351918391
|
|
NM_138694.4(PKHD1):c.954del (p.Arg319fs)
|
rs1809305398
|
|
NM_138694.4(PKHD1):c.9830-2A>G
|
rs890681861
|
|
NM_139058.3(ARX):c.994C>G (p.Arg332Gly)
|
rs2147323593
|
|
NM_144585.4(SLC22A12):c.507-8_511del
|
rs1404199426
|
|
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs)
|
rs1131690841
|
|
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)
|
rs1131690833
|
|
NM_144997.7(FLCN):c.189del (p.Ala64fs)
|
rs876660611
|
|
NM_145038.5(DRC1):c.109dup (p.Gln37fs)
|
rs750136163
|
|
NM_145207.3(AFG2A):c.1069G>T (p.Gly357Ter)
|
rs755744719
|
|
NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly)
|
rs768528444
|
|
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter)
|
rs1367694162
|
|
NM_147127.5(EVC2):c.2047-2A>G
|
rs1553833239
|
|
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter)
|
rs1577170055
|
|
NM_147127.5(EVC2):c.821_824del (p.Arg274fs)
|
rs1368193719
|
|
NM_152384.3(BBS5):c.303dup (p.Asn102Ter)
|
rs1683515617
|
|
NM_152443.3(RDH12):c.659-2A>T
|
rs2038231425
|
|
NM_152515.5(CKAP2L):c.1092_1093del (p.Gln364fs)
|
rs755184431
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)
|
rs386834067
|
|
NM_152564.5(VPS13B):c.3083-1G>A
|
rs1563726973
|
|
NM_152564.5(VPS13B):c.3870+1G>T
|
rs764225649
|
|
NM_152564.5(VPS13B):c.7247+2T>C
|
rs1563908020
|
|
NM_152618.3(BBS12):c.1095_1096del (p.Asn366fs)
|
rs2150736865
|
|
NM_152618.3(BBS12):c.1140_1141del (p.Val381fs)
|
rs1553941391
|
|
NM_152618.3(BBS12):c.1151del (p.Ser384fs)
|
rs1553941404
|
|
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)
|
rs766741204
|
|
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs)
|
rs2150737598
|
|
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs)
|
rs1560708847
|
|
NM_152618.3(BBS12):c.424dup (p.Asp142fs)
|
rs1553941258
|
|
NM_152618.3(BBS12):c.869_873del (p.Val290fs)
|
rs1283655166
|
|
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)
|
rs1456714047
|
|
NM_153240.5(NPHP3):c.1985+1G>A
|
rs1553773271
|
|
NM_153240.5(NPHP3):c.3757C>G (p.Leu1253Val)
|
rs775281384
|
|
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del)
|
rs119456959
|
|
NM_153240.5(NPHP3):c.634dup (p.Glu212fs)
|
rs747052534
|
|
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs)
|
rs868404889
|
|
NM_153717.3(EVC):c.2449+1G>A
|
rs1553893423
|
|
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)
|
rs755381180
|
|
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)
|
rs2102898301
|
|
NM_170707.4(LMNA):c.822del (p.Arg275fs)
|
rs2102883169
|
|
NM_170784.3(MKKS):c.63_64del (p.Arg21fs)
|
rs754066841
|
|
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)
|
rs118192194
|
|
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys)
|
rs796052617
|
|
NM_172351.3(CD46):c.714_715del (p.Gln238fs)
|
rs1571616755
|
|
NM_173076.3(ABCA12):c.130C>T (p.Arg44Trp)
|
rs201542666
|
|
NM_173086.5(KRT6C):c.1414G>A (p.Glu472Lys)
|
rs587777292
|
|
NM_173477.5(USH1G):c.1004dup (p.Leu336fs)
|
rs1359109336
|
|
NM_173477.5(USH1G):c.191G>A (p.Trp64Ter)
|
rs928656346
|
|
NM_173560.4(RFX6):c.649T>C (p.Ser217Pro)
|
rs267607012
|
|
NM_173689.7(CRB2):c.315C>A (p.Cys105Ter)
|
rs149815227
|
|
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)
|
rs746523071
|
|
NM_174916.3(UBR1):c.529-13G>A
|
rs1265375100
|
|
NM_175914.5(HNF4A):c.427-1G>A
|
rs1568731279
|
|
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)
|
rs376013528
|
|
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup)
|
rs776489992
|
|
NM_177438.3(DICER1):c.5441C>T (p.Ser1814Leu)
|
rs1060503625
|
|
NM_177924.5(ASAH1):c.3G>T (p.Met1Ile)
|
rs966267709
|
|
NM_177965.4(CFAP418):c.177del (p.Glu60fs)
|
rs1811931460
|
|
NM_178170.3(NEK8):c.1359_1360del (p.His454fs)
|
rs1282492342
|
|
NM_178452.6(DNAAF1):c.1300_1322del (p.Gly434fs)
|
rs745495583
|
|
NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs)
|
rs1717695462
|
|
NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter)
|
rs772219642
|
|
NM_181426.2(CCDC39):c.610_613del
|
rs1415346246
|
|
NM_181507.2(HPS5):c.2077del (p.Arg693fs)
|
rs746844529
|
|
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter)
|
rs770804941
|
|
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg)
|
rs137852851
|
|
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)
|
rs751953459
|
|
NM_194248.3(OTOF):c.1172del (p.Lys391fs)
|
rs483353050
|
|
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs)
|
rs397515609
|
|
NM_198173.3(GRHL3):c.1171C>T (p.Arg391Cys)
|
rs879255245
|
|
NM_198253.3(TERT):c.336dup (p.Glu113fs)
|
rs1060502990
|
|
NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp)
|
rs879255643
|
|
NM_198334.3(GANAB):c.490C>T (p.Arg164Ter)
|
rs754785664
|
|
NM_198428.3(BBS9):c.1423G>T (p.Glu475Ter)
|
rs863224534
|
|
NM_198428.3(BBS9):c.1468del (p.Tyr490fs)
|
rs1454474832
|
|
NM_198428.3(BBS9):c.1474A>T (p.Lys492Ter)
|
rs2128667543
|
|
NM_198428.3(BBS9):c.2007_2008dup (p.Ala670fs)
|
rs1266192229
|
|
NM_199242.3(UNC13D):c.1807G>T (p.Glu603Ter)
|
rs755348845
|
|
NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)
|
rs62645754
|
|
NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs)
|
rs751935649
|
|
NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)
|
rs62635659
|
|
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)
|
rs62635649
|
|
NM_201525.4(ADGRG1):c.215del (p.Pro72fs)
|
rs2044043566
|
|
NM_203290.4(POLR1C):c.232C>T (p.Arg78Ter)
|
rs1793021342
|
|
NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu)
|
rs863223276
|
|
NM_203486.3(DLL3):c.534C>A (p.Cys178Ter)
|
rs1447189148
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
NM_206933.4(USH2A):c.15371del (p.Leu5124fs)
|
rs1656163649
|
|
NM_206933.4(USH2A):c.387del (p.Phe129fs)
|
rs1484339054
|
|
NM_206933.4(USH2A):c.5877del (p.Ser1961fs)
|
rs727505343
|
|
NM_206933.4(USH2A):c.6131C>A (p.Ser2044Ter)
|
rs1209837469
|
|
NM_206933.4(USH2A):c.6957+1G>C
|
rs2102458321
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
NM_207352.4(CYP4V2):c.176del (p.Leu59fs)
|
rs1735999769
|
|
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter)
|
rs4774518
|
|
NM_213653.4(HJV):c.187C>T (p.Arg63Ter)
|
rs1652592444
|
|
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA
|
rs1554651425
|
|
NR_003051.3(RMRP):n.-13_-2dup
|
rs1554651400
|
|
NR_003051.3(RMRP):n.-20_-10dup
|
rs1554651486
|
|
NR_003051.3(RMRP):n.-20_-7dup14
|
rs1823639713
|
|
NR_003051.3(RMRP):n.-24_-10dup
|
rs727502776
|
|
NR_003051.3(RMRP):n.-24_-4dup
|
rs1563907883
|
|
NR_003051.3(RMRP):n.-26_-10dup
|
rs1554651491
|
|
NR_003051.4(RMRP):n.129G>A
|
rs74810894
|
|
NR_003051.4(RMRP):n.220A>G
|
rs936059863
|
|
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG
|
rs1383432106
|
|