NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)
|
rs74653330
|
0.00630
|
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn)
|
rs9282671
|
0.00362
|
NM_025152.3(NUBPL):c.815-27T>C
|
rs118161496
|
0.00348
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_005993.5(TBCD):c.2852+3A>G
|
rs187081192
|
0.00308
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)
|
rs61754030
|
0.00174
|
NM_004279.3(PMPCB):c.1336A>G (p.Asn446Asp)
|
rs144744182
|
0.00172
|
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter)
|
rs71352737
|
0.00168
|
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met)
|
rs41292782
|
0.00155
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_001079802.2(FKTN):c.166-4A>G
|
rs193922689
|
0.00125
|
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)
|
rs528000488
|
0.00124
|
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp)
|
rs34489989
|
0.00108
|
NM_001010874.5(TECRL):c.893T>C (p.Val298Ala)
|
rs146610448
|
0.00096
|
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)
|
rs61750563
|
0.00088
|
NM_003764.4(STX11):c.616G>A (p.Glu206Lys)
|
rs145347140
|
0.00086
|
NM_005562.3(LAMC2):c.2681G>A (p.Arg894His)
|
rs146907099
|
0.00081
|
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly)
|
rs186865544
|
0.00073
|
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His)
|
rs201734382
|
0.00070
|
NM_152743.4(BRAT1):c.826G>A (p.Asp276Asn)
|
rs146546197
|
0.00070
|
NM_001372.4(DNAH9):c.11039C>T (p.Ala3680Val)
|
rs72815427
|
0.00068
|
NM_001364905.1(LRBA):c.8024C>T (p.Thr2675Ile)
|
rs202244838
|
0.00067
|
NM_020778.5(ALPK3):c.1015C>T (p.Arg339Cys)
|
rs141449225
|
0.00067
|
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys)
|
rs138840581
|
0.00062
|
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser)
|
rs146175803
|
0.00061
|
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg)
|
rs139019255
|
0.00058
|
NM_024417.5(FDXR):c.1459C>T (p.Arg487Cys)
|
rs143458938
|
0.00053
|
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln)
|
rs190396031
|
0.00053
|
NM_139285.4(GAS2L2):c.938G>A (p.Arg313His)
|
rs201782410
|
0.00053
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00052
|
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)
|
rs142877365
|
0.00052
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00048
|
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=)
|
rs368625295
|
0.00048
|
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp)
|
rs141441030
|
0.00045
|
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr)
|
rs146968463
|
0.00045
|
NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln)
|
rs139576982
|
0.00045
|
NM_194248.3(OTOF):c.3706C>G (p.Arg1236Gly)
|
rs199904558
|
0.00045
|
NM_004092.4(ECHS1):c.489G>A (p.Pro163=)
|
rs140410716
|
0.00042
|
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)
|
rs35297901
|
0.00041
|
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)
|
rs541276426
|
0.00041
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_020433.5(JPH2):c.692G>A (p.Arg231Gln)
|
rs761591158
|
0.00039
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)
|
rs199474808
|
0.00038
|
NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln)
|
rs200559738
|
0.00037
|
NM_001257096.2(PAX1):c.1175C>G (p.Pro392Arg)
|
rs201542749
|
0.00037
|
NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp)
|
rs529894952
|
0.00036
|
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)
|
rs45627337
|
0.00036
|
NM_152743.4(BRAT1):c.955G>A (p.Val319Ile)
|
rs140903769
|
0.00034
|
NM_015909.4(NBAS):c.3502G>A (p.Glu1168Lys)
|
rs140855946
|
0.00033
|
NM_001195263.2(PDZD7):c.1267G>A (p.Ala423Thr)
|
rs201268590
|
0.00031
|
NM_001346754.2(PIGW):c.106A>G (p.Arg36Gly)
|
rs142067039
|
0.00031
|
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)
|
rs140596256
|
0.00030
|
NM_000719.7(CACNA1C):c.2460+6G>A
|
rs369246066
|
0.00029
|
NM_001160372.4(TRAPPC9):c.2681G>A (p.Ser894Asn)
|
rs34181302
|
0.00029
|
NM_006420.3(ARFGEF2):c.3046G>C (p.Gly1016Arg)
|
rs149644732
|
0.00029
|
NM_170754.4(TNS2):c.1424G>A (p.Arg475Gln)
|
rs150698661
|
0.00028
|
NM_004279.3(PMPCB):c.28T>G (p.Leu10Val)
|
rs77305684
|
0.00027
|
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)
|
rs374057859
|
0.00027
|
NM_001458.5(FLNC):c.4097A>G (p.Asn1366Ser)
|
rs185746835
|
0.00026
|
NM_003184.4(TAF2):c.2458G>A (p.Asp820Asn)
|
rs117420905
|
0.00026
|
NM_004369.4(COL6A3):c.8966-3C>A
|
rs190667494
|
0.00026
|
NM_005186.4(CAPN1):c.221G>A (p.Gly74Asp)
|
rs201318945
|
0.00026
|
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile)
|
rs200393300
|
0.00026
|
NM_032620.4(GTPBP3):c.1424G>C (p.Gly475Ala)
|
rs200086297
|
0.00026
|
NM_058004.4(PI4KA):c.2797A>G (p.Met933Val)
|
rs142927362
|
0.00026
|
NM_001286577.2(C2CD3):c.3742C>T (p.Arg1248Cys)
|
rs139665472
|
0.00025
|
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly)
|
rs200635860
|
0.00025
|
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met)
|
rs199473648
|
0.00025
|
NM_181426.2(CCDC39):c.83A>C (p.Glu28Ala)
|
rs201794121
|
0.00025
|
NM_001009944.3(PKD1):c.674C>T (p.Ser225Leu)
|
rs748021456
|
0.00024
|
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val)
|
rs199682341
|
0.00024
|
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro)
|
rs749447795
|
0.00024
|
NM_015836.4(WARS2):c.348+3C>T
|
rs200060157
|
0.00024
|
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)
|
rs34591340
|
0.00023
|
NM_015991.4(C1QA):c.11C>G (p.Pro4Arg)
|
rs149230484
|
0.00023
|
NM_003803.4(MYOM1):c.2848A>G (p.Met950Val)
|
rs184774935
|
0.00022
|
NM_138694.4(PKHD1):c.12142C>T (p.Gln4048Ter)
|
rs201812542
|
0.00022
|
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)
|
rs200367454
|
0.00022
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00021
|
NM_001244926.2(PRPF4):c.1504G>A (p.Asp502Asn)
|
rs141207203
|
0.00021
|
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)
|
rs201962592
|
0.00021
|
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly)
|
rs190693455
|
0.00021
|
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser)
|
rs188955444
|
0.00021
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)
|
rs202040519
|
0.00020
|
NM_004544.4(NDUFA10):c.404T>C (p.Leu135Ser)
|
rs140776586
|
0.00020
|
NM_005921.2(MAP3K1):c.934A>T (p.Met312Leu)
|
rs376808920
|
0.00020
|
NM_024339.5(THOC6):c.700G>C (p.Val234Leu)
|
rs150940923
|
0.00020
|
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg)
|
rs141133182
|
0.00019
|
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)
|
rs727503234
|
0.00019
|
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter)
|
rs146471913
|
0.00019
|
NM_014000.3(VCL):c.2969C>T (p.Ala990Val)
|
rs150595117
|
0.00019
|
NM_018685.5(ANLN):c.752G>A (p.Ser251Asn)
|
rs372980930
|
0.00019
|
NM_004618.5(TOP3A):c.2779G>T (p.Glu927Ter)
|
rs578143841
|
0.00018
|
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly)
|
rs138391404
|
0.00018
|
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln)
|
rs369697947
|
0.00018
|
NM_020320.5(RARS2):c.754T>A (p.Tyr252Asn)
|
rs140692271
|
0.00018
|
NM_001127178.3(PIGG):c.1614+247G>A
|
rs555564479
|
0.00017
|
NM_020365.5(EIF2B3):c.71C>T (p.Pro24Leu)
|
rs151320540
|
0.00017
|
NM_152515.5(CKAP2L):c.1040G>A (p.Arg347Lys)
|
rs551009951
|
0.00017
|
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser)
|
rs730880182
|
0.00016
|
NM_001204.7(BMPR2):c.545G>A (p.Gly182Asp)
|
rs137852754
|
0.00016
|
NM_001330588.2(TPP2):c.3074A>G (p.Glu1025Gly)
|
rs199569052
|
0.00016
|
NM_001458.5(FLNC):c.1108A>G (p.Met370Val)
|
rs370406338
|
0.00016
|
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg)
|
rs763469367
|
0.00016
|
NM_152393.4(KLHL40):c.1746C>A (p.Asp582Glu)
|
rs202096553
|
0.00016
|
NM_001105206.3(LAMA4):c.4792G>T (p.Ala1598Ser)
|
rs202176359
|
0.00015
|
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg)
|
rs751650734
|
0.00015
|
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)
|
rs28933673
|
0.00014
|
NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn)
|
rs753699011
|
0.00014
|
NM_001332.4(CTNND2):c.662C>T (p.Pro221Leu)
|
rs1016219246
|
0.00014
|
NM_020778.5(ALPK3):c.301A>G (p.Thr101Ala)
|
rs199645892
|
0.00014
|
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly)
|
rs182080501
|
0.00014
|
NM_033124.5(CCDC65):c.683A>T (p.Asp228Val)
|
rs142550817
|
0.00014
|
NM_173630.4(RTTN):c.1738C>T (p.Arg580Cys)
|
rs368918234
|
0.00014
|
NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln)
|
rs369935650
|
0.00013
|
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg)
|
rs200114716
|
0.00013
|
NM_032620.4(GTPBP3):c.1252G>A (p.Val418Met)
|
rs148291786
|
0.00013
|
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile)
|
rs201949664
|
0.00013
|
NM_181840.1(KCNK18):c.361dup (p.Tyr121fs)
|
rs541915908
|
0.00013
|
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln)
|
rs200590188
|
0.00011
|
NM_000199.5(SGSH):c.1049C>T (p.Pro350Leu)
|
rs144035603
|
0.00011
|
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr)
|
rs199963560
|
0.00011
|
NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln)
|
rs199738915
|
0.00011
|
NM_001211.6(BUB1B):c.1630C>T (p.Pro544Ser)
|
rs138332995
|
0.00011
|
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp)
|
rs540100675
|
0.00011
|
NM_002887.4(RARS1):c.668G>A (p.Arg223His)
|
rs146632182
|
0.00011
|
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp)
|
rs556465096
|
0.00011
|
NM_004625.4(WNT7A):c.470G>A (p.Arg157His)
|
rs199592697
|
0.00011
|
NM_005051.3(QARS1):c.337G>A (p.Val113Met)
|
rs767616063
|
0.00011
|
NM_005559.4(LAMA1):c.485G>A (p.Arg162His)
|
rs759415734
|
0.00011
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
NM_018136.5(ASPM):c.5510G>A (p.Gly1837Asp)
|
rs144969324
|
0.00011
|
NM_020376.4(PNPLA2):c.1415C>G (p.Ala472Gly)
|
rs765640246
|
0.00011
|
NM_080605.4(B3GALT6):c.818A>G (p.Asn273Ser)
|
rs759357299
|
0.00011
|
NM_001009944.3(PKD1):c.1867A>C (p.Ser623Arg)
|
rs750430411
|
0.00010
|
NM_001035.3(RYR2):c.9067+10C>T
|
rs372631657
|
0.00010
|
NM_004820.5(CYP7B1):c.101G>A (p.Cys34Tyr)
|
rs1031580133
|
0.00010
|
NM_020971.3(SPTBN4):c.6502C>G (p.Leu2168Val)
|
rs760932101
|
0.00010
|
NM_145046.5(CALR3):c.1066C>T (p.Arg356Cys)
|
rs150430942
|
0.00010
|
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys)
|
rs145465528
|
0.00009
|
NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn)
|
rs199924410
|
0.00009
|
NM_000531.6(OTC):c.385C>T (p.Arg129Cys)
|
rs140046498
|
0.00009
|
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly)
|
rs549476254
|
0.00009
|
NM_001009944.3(PKD1):c.997G>A (p.Val333Met)
|
rs772316684
|
0.00009
|
NM_001009999.3(KDM1A):c.160G>A (p.Ala54Thr)
|
rs1358497272
|
0.00009
|
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln)
|
rs727503404
|
0.00009
|
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys)
|
rs777768807
|
0.00009
|
NM_001367823.1(ARHGEF18):c.3580C>T (p.Arg1194Cys)
|
rs749113504
|
0.00009
|
NM_001377.3(DYNC2H1):c.8833-3T>C
|
rs551227065
|
0.00009
|
NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val)
|
rs202184162
|
0.00009
|
NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met)
|
rs772580545
|
0.00009
|
NM_006420.3(ARFGEF2):c.695G>A (p.Arg232His)
|
rs140989375
|
0.00009
|
NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser)
|
rs200294385
|
0.00009
|
NM_014141.6(CNTNAP2):c.3155G>A (p.Arg1052His)
|
rs374739970
|
0.00009
|
NM_032620.4(GTPBP3):c.169G>C (p.Ala57Pro)
|
rs762821280
|
0.00009
|
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile)
|
rs751776839
|
0.00008
|
NM_001105206.3(LAMA4):c.1522G>A (p.Ala508Thr)
|
rs139730568
|
0.00008
|
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val)
|
rs763045560
|
0.00008
|
NM_006904.7(PRKDC):c.10172C>T (p.Ala3391Val)
|
rs562934408
|
0.00008
|
NM_014239.4(EIF2B2):c.119G>C (p.Gly40Ala)
|
rs139325888
|
0.00008
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
NM_025150.5(TARS2):c.49G>A (p.Ala17Thr)
|
rs367864616
|
0.00008
|
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn)
|
rs373255125
|
0.00008
|
NM_181882.3(PRX):c.553C>T (p.Arg185Cys)
|
rs376863946
|
0.00008
|
NM_000133.4(F9):c.1346G>A (p.Arg449Gln)
|
rs143018900
|
0.00007
|
NM_000501.4(ELN):c.1537G>A (p.Val513Ile)
|
rs372788076
|
0.00007
|
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)
|
rs373797219
|
0.00007
|
NM_001193375.3(NDUFA11):c.494C>T (p.Ala165Val)
|
rs765004425
|
0.00007
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu)
|
rs376632767
|
0.00007
|
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His)
|
rs201745016
|
0.00007
|
NM_004618.5(TOP3A):c.1643G>A (p.Arg548Gln)
|
rs151096656
|
0.00007
|
NM_005061.3(RPL3L):c.722C>T (p.Pro241Leu)
|
rs748822456
|
0.00007
|
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His)
|
rs760922582
|
0.00007
|
NM_005262.3(GFER):c.586C>T (p.Arg196Cys)
|
rs370475970
|
0.00007
|
NM_006393.3(NEBL):c.535C>T (p.Arg179Ter)
|
rs370153729
|
0.00007
|
NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val)
|
rs375708075
|
0.00007
|
NM_030653.4(DDX11):c.2692-1G>A
|
rs376819535
|
0.00007
|
NM_053025.4(MYLK):c.1786G>A (p.Ala596Thr)
|
rs758715543
|
0.00007
|
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln)
|
rs147366714
|
0.00006
|
NM_000061.3(BTK):c.720A>C (p.Glu240Asp)
|
rs141590686
|
0.00006
|
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp)
|
rs147329970
|
0.00006
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
NM_001009944.3(PKD1):c.10141C>T (p.Leu3381Phe)
|
rs142799331
|
0.00006
|
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu)
|
rs530832015
|
0.00006
|
NM_001277115.2(DNAH11):c.6514G>C (p.Val2172Leu)
|
rs375008007
|
0.00006
|
NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys)
|
rs199506852
|
0.00006
|
NM_002471.4(MYH6):c.1328G>A (p.Arg443His)
|
rs202096001
|
0.00006
|
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg)
|
rs201442000
|
0.00006
|
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile)
|
rs367986765
|
0.00006
|
NM_014946.4(SPAST):c.250C>T (p.Arg84Cys)
|
rs776114823
|
0.00006
|
NM_015346.4(ZFYVE26):c.3139+1G>A
|
rs137907310
|
0.00006
|
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp)
|
rs187225056
|
0.00006
|
NM_018292.5(QRSL1):c.16C>T (p.Leu6Phe)
|
rs373031772
|
0.00006
|
NM_020778.5(ALPK3):c.256C>T (p.Arg86Trp)
|
rs201202701
|
0.00006
|
NM_024334.3(TMEM43):c.214G>A (p.Val72Met)
|
rs368603914
|
0.00006
|
NM_144991.3(TSPEAR):c.1754G>T (p.Ser585Ile)
|
rs782716325
|
0.00006
|
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn)
|
rs367799225
|
0.00006
|
NM_152743.4(BRAT1):c.283-2A>T
|
rs147005619
|
0.00006
|
NM_173630.4(RTTN):c.1777G>A (p.Glu593Lys)
|
rs371732895
|
0.00006
|
NM_198525.3(KIF7):c.2674C>T (p.Arg892Cys)
|
rs146368430
|
0.00006
|
NM_201596.3(CACNB2):c.1681G>A (p.Glu561Lys)
|
rs199714857
|
0.00006
|
NM_000132.4(F8):c.2840C>G (p.Pro947Arg)
|
rs782318401
|
0.00005
|
NM_001349.4(DARS1):c.242G>A (p.Arg81His)
|
rs532864330
|
0.00005
|
NM_001352754.2(ARMC9):c.1907G>A (p.Arg636Gln)
|
rs570002180
|
0.00005
|
NM_001368067.1(LDB3):c.370C>A (p.Pro124Thr)
|
rs755513516
|
0.00005
|
NM_002161.6(IARS1):c.1531C>T (p.Arg511Cys)
|
rs371250371
|
0.00005
|
NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala)
|
rs397516859
|
0.00005
|
NM_005589.4(ALDH6A1):c.1373G>A (p.Arg458Gln)
|
rs369223978
|
0.00005
|
NM_005993.5(TBCD):c.2293C>T (p.Arg765Trp)
|
rs547091970
|
0.00005
|
NM_006767.4(LZTR1):c.2260A>C (p.Asn754His)
|
rs745755957
|
0.00005
|
NM_006915.3(RP2):c.8G>C (p.Cys3Ser)
|
rs782344765
|
0.00005
|
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys)
|
rs45521338
|
0.00005
|
NM_016341.4(PLCE1):c.6800G>A (p.Arg2267Gln)
|
rs886039892
|
0.00005
|
NM_024301.5(FKRP):c.1270A>C (p.Asn424His)
|
rs769568971
|
0.00005
|
NM_024817.3(THSD4):c.2443C>T (p.Arg815Trp)
|
rs367982245
|
0.00005
|
NM_176869.3(PPA2):c.476C>T (p.Thr159Met)
|
rs752062224
|
0.00005
|
NM_183075.3(CYP2U1):c.1376C>T (p.Pro459Leu)
|
rs747965749
|
0.00005
|
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser)
|
rs782127226
|
0.00004
|
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)
|
rs199473435
|
0.00004
|
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln)
|
rs150053420
|
0.00004
|
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr)
|
rs371702432
|
0.00004
|
NM_001009944.3(PKD1):c.2243C>T (p.Ser748Leu)
|
rs761540024
|
0.00004
|
NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met)
|
rs780043149
|
0.00004
|
NM_001122764.3(PPOX):c.1220C>T (p.Pro407Leu)
|
rs772971420
|
0.00004
|
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala)
|
rs755371528
|
0.00004
|
NM_001204.7(BMPR2):c.908G>A (p.Arg303His)
|
rs200948870
|
0.00004
|
NM_001281740.3(FHOD3):c.1913G>A (p.Arg638Gln)
|
rs780516974
|
0.00004
|
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser)
|
rs387906769
|
0.00004
|
NM_001365999.1(SZT2):c.670C>T (p.Arg224Trp)
|
rs930525688
|
0.00004
|
NM_001365999.1(SZT2):c.9866G>T (p.Gly3289Val)
|
rs371736872
|
0.00004
|
NM_001372.4(DNAH9):c.7267G>A (p.Asp2423Asn)
|
rs757516746
|
0.00004
|
NM_001378778.1(MPDZ):c.3263A>G (p.Tyr1088Cys)
|
rs372125677
|
0.00004
|
NM_001519.4(BRF1):c.1693G>T (p.Ala565Ser)
|
rs188142316
|
0.00004
|
NM_002291.3(LAMB1):c.4237G>A (p.Gly1413Arg)
|
rs369198991
|
0.00004
|
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His)
|
rs533942127
|
0.00004
|
NM_002887.4(RARS1):c.272C>T (p.Ala91Val)
|
rs150568331
|
0.00004
|
NM_003242.6(TGFBR2):c.95-3C>A
|
rs375330013
|
0.00004
|
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys)
|
rs397516875
|
0.00004
|
NM_004100.5(EYA4):c.1223G>A (p.Arg408His)
|
rs760787542
|
0.00004
|
NM_005609.4(PYGM):c.752A>G (p.Asn251Ser)
|
rs143071876
|
0.00004
|
NM_005993.5(TBCD):c.3562C>T (p.Gln1188Ter)
|
rs780053410
|
0.00004
|
NM_015221.4(DNMBP):c.1232G>A (p.Gly411Asp)
|
rs757446966
|
0.00004
|
NM_015978.3(TNNI3K):c.681T>C (p.Asp227=)
|
rs757108060
|
0.00004
|
NM_016013.4(NDUFAF1):c.199G>A (p.Val67Ile)
|
rs201452351
|
0.00004
|
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp)
|
rs769570290
|
0.00004
|
NM_016580.4(PCDH12):c.1060G>A (p.Val354Ile)
|
rs763363704
|
0.00004
|
NM_018105.3(THAP1):c.574G>A (p.Asp192Asn)
|
rs377725442
|
0.00004
|
NM_018136.5(ASPM):c.2824C>T (p.Arg942Cys)
|
rs546095187
|
0.00004
|
NM_020436.5(SALL4):c.1037G>A (p.Ser346Asn)
|
rs757430438
|
0.00004
|
NM_020461.4(TUBGCP6):c.1983+4C>T
|
rs749151104
|
0.00004
|
NM_020461.4(TUBGCP6):c.2657G>A (p.Gly886Glu)
|
rs769027529
|
0.00004
|
NM_020461.4(TUBGCP6):c.3089C>T (p.Ser1030Leu)
|
rs751897821
|
0.00004
|
NM_020461.4(TUBGCP6):c.4626+4G>A
|
rs771572928
|
0.00004
|
NM_020778.5(ALPK3):c.4499+2dup
|
rs753084997
|
0.00004
|
NM_022356.4(P3H1):c.1831G>T (p.Asp611Tyr)
|
rs200935208
|
0.00004
|
NM_024334.3(TMEM43):c.121A>G (p.Met41Val)
|
rs144334386
|
0.00004
|
NM_032444.4(SLX4):c.734C>T (p.Pro245Leu)
|
rs199929086
|
0.00004
|
NM_152564.5(VPS13B):c.6311C>T (p.Ser2104Phe)
|
rs374298481
|
0.00004
|
NM_152743.4(BRAT1):c.1198C>G (p.Leu400Val)
|
rs778690788
|
0.00004
|
NM_206965.2(FTCD):c.439G>A (p.Glu147Lys)
|
rs754659947
|
0.00004
|
NM_000088.4(COL1A1):c.1532G>A (p.Arg511His)
|
rs780422688
|
0.00003
|
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys)
|
rs782498694
|
0.00003
|
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp)
|
rs373394254
|
0.00003
|
NM_001009944.3(PKD1):c.2473C>T (p.Arg825Trp)
|
rs773426104
|
0.00003
|
NM_001009944.3(PKD1):c.9814C>T (p.Arg3272Cys)
|
rs143453080
|
0.00003
|
NM_001089.3(ABCA3):c.3534G>A (p.Met1178Ile)
|
rs778869149
|
0.00003
|
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys)
|
rs141563497
|
0.00003
|
NM_001164508.2(NEB):c.11910+1G>A
|
rs774495973
|
0.00003
|
NM_001277115.2(DNAH11):c.5155A>G (p.Thr1719Ala)
|
rs369965539
|
0.00003
|
NM_001349253.2(SCN11A):c.1061G>A (p.Arg354Gln)
|
rs1380372157
|
0.00003
|
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)
|
rs397514400
|
0.00003
|
NM_001458.5(FLNC):c.6595G>A (p.Gly2199Arg)
|
rs368977589
|
0.00003
|
NM_002471.4(MYH6):c.2018G>A (p.Arg673His)
|
rs1023327699
|
0.00003
|
NM_003476.5(CSRP3):c.191G>A (p.Arg64His)
|
rs375014380
|
0.00003
|
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His)
|
rs782013532
|
0.00003
|
NM_005360.5(MAF):c.412C>A (p.Leu138Met)
|
rs771268967
|
0.00003
|
NM_005477.3(HCN4):c.3229G>A (p.Gly1077Ser)
|
rs746291340
|
0.00003
|
NM_005529.7(HSPG2):c.10061G>A (p.Arg3354His)
|
rs776453694
|
0.00003
|
NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys)
|
rs374155761
|
0.00003
|
NM_015459.5(ATL3):c.1346C>T (p.Thr449Met)
|
rs775539106
|
0.00003
|
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp)
|
rs200441929
|
0.00003
|
NM_020779.4(WDR35):c.1636C>T (p.Arg546Cys)
|
rs549077153
|
0.00003
|
NM_024334.3(TMEM43):c.644A>C (p.His215Pro)
|
rs730880225
|
0.00003
|
NM_025137.4(SPG11):c.2003A>G (p.Tyr668Cys)
|
rs764762491
|
0.00003
|
NM_033419.5(PGAP3):c.856A>G (p.Ile286Val)
|
rs760923040
|
0.00003
|
NM_144573.4(NEXN):c.857G>A (p.Arg286Gln)
|
rs910594117
|
0.00003
|
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr)
|
rs1044976516
|
0.00003
|
NM_172201.2(KCNE2):c.347C>T (p.Ala116Val)
|
rs199473367
|
0.00003
|
NM_173630.4(RTTN):c.2378G>A (p.Arg793His)
|
rs776764068
|
0.00003
|
NM_206933.4(USH2A):c.5051C>T (p.Pro1684Leu)
|
rs771088957
|
0.00003
|
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val)
|
rs527689947
|
0.00003
|
NM_000138.5(FBN1):c.2893G>C (p.Glu965Gln)
|
rs748905831
|
0.00002
|
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser)
|
rs562875924
|
0.00002
|
NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser)
|
rs199693280
|
0.00002
|
NM_000274.4(OAT):c.860T>C (p.Ile287Thr)
|
rs550949287
|
0.00002
|
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu)
|
rs745573222
|
0.00002
|
NM_000393.5(COL5A2):c.1412G>C (p.Gly471Ala)
|
rs779614415
|
0.00002
|
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro)
|
rs748601646
|
0.00002
|
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val)
|
rs369703183
|
0.00002
|
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)
|
rs730881151
|
0.00002
|
NM_001037.5(SCN1B):c.448+100G>T
|
rs779658201
|
0.00002
|
NM_001081.4(CUBN):c.3088C>A (p.Leu1030Ile)
|
rs746111876
|
0.00002
|
NM_001103.4(ACTN2):c.646A>G (p.Met216Val)
|
rs749019847
|
0.00002
|
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln)
|
rs1556861372
|
0.00002
|
NM_001127178.3(PIGG):c.2770G>A (p.Ala924Thr)
|
rs771098011
|
0.00002
|
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg)
|
rs150331990
|
0.00002
|
NM_001134363.3(RBM20):c.710G>T (p.Gly237Val)
|
rs761557813
|
0.00002
|
NM_001184880.2(PCDH19):c.1210A>G (p.Thr404Ala)
|
rs746891808
|
0.00002
|
NM_001242896.3(DEPDC5):c.95A>G (p.His32Arg)
|
rs760541660
|
0.00002
|
NM_001276277.3(PPIP5K2):c.685C>T (p.Arg229Ter)
|
rs782783744
|
0.00002
|
NM_001281740.3(FHOD3):c.1909C>T (p.Arg637Trp)
|
rs758818742
|
0.00002
|
NM_001308093.3(GATA4):c.912+5G>A
|
rs371005520
|
0.00002
|
NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser)
|
rs757161449
|
0.00002
|
NM_001371928.1(AHDC1):c.3005A>G (p.Tyr1002Cys)
|
rs914917557
|
0.00002
|
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys)
|
rs565098671
|
0.00002
|
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe)
|
rs372187548
|
0.00002
|
NM_001458.5(FLNC):c.1309C>T (p.Arg437Cys)
|
rs374847180
|
0.00002
|
NM_001458.5(FLNC):c.5408G>A (p.Arg1803Gln)
|
rs757482925
|
0.00002
|
NM_001458.5(FLNC):c.6041T>C (p.Val2014Ala)
|
rs765064363
|
0.00002
|
NM_001613.4(ACTA2):c.1120C>T (p.Arg374Cys)
|
rs757166963
|
0.00002
|
NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser)
|
rs750006303
|
0.00002
|
NM_001987.5(ETV6):c.116G>A (p.Arg39Gln)
|
rs144209028
|
0.00002
|
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr)
|
rs778577575
|
0.00002
|
NM_003849.4(SUCLG1):c.113T>C (p.Ile38Thr)
|
rs1672909095
|
0.00002
|
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln)
|
rs1057522606
|
0.00002
|
NM_004606.5(TAF1):c.2617A>G (p.Thr873Ala)
|
rs1358610598
|
0.00002
|
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)
|
rs782010359
|
0.00002
|
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His)
|
rs782138046
|
0.00002
|
NM_014231.5(VAMP1):c.3-6C>T
|
rs749846681
|
0.00002
|
NM_014244.5(ADAMTS2):c.2903G>A (p.Arg968Gln)
|
rs777490675
|
0.00002
|
NM_014855.3(AP5Z1):c.2352C>A (p.Asn784Lys)
|
rs748913228
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His)
|
rs1410635948
|
0.00002
|
NM_015346.4(ZFYVE26):c.2539G>A (p.Ala847Thr)
|
rs570114196
|
0.00002
|
NM_015346.4(ZFYVE26):c.3172C>T (p.Arg1058Trp)
|
rs200775182
|
0.00002
|
NM_016729.3(FOLR1):c.10C>T (p.Arg4Trp)
|
rs112062510
|
0.00002
|
NM_016938.5(EFEMP2):c.167A>G (p.Asn56Ser)
|
rs768570882
|
0.00002
|
NM_018136.5(ASPM):c.2629+3A>G
|
rs758509567
|
0.00002
|
NM_020778.5(ALPK3):c.4184C>G (p.Ser1395Cys)
|
rs192472249
|
0.00002
|
NM_033026.6(PCLO):c.6916A>G (p.Lys2306Glu)
|
rs747750190
|
0.00002
|
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val)
|
rs147945173
|
0.00002
|
NM_144672.4(OTOA):c.2207G>A (p.Gly736Glu)
|
rs140364490
|
0.00002
|
NM_000021.4(PSEN1):c.1315A>G (p.Ile439Val)
|
rs63750249
|
0.00001
|
NM_000051.4(ATM):c.1709T>C (p.Phe570Ser)
|
rs777301065
|
0.00001
|
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)
|
rs758908522
|
0.00001
|
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)
|
rs752452590
|
0.00001
|
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu)
|
rs781660254
|
0.00001
|
NM_000092.5(COL4A4):c.4792G>A (p.Gly1598Arg)
|
rs1403779580
|
0.00001
|
NM_000132.4(F8):c.1835G>A (p.Arg612His)
|
rs782473762
|
0.00001
|
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)
|
rs200433372
|
0.00001
|
NM_000135.4(FANCA):c.1498C>T (p.Pro500Ser)
|
rs776371246
|
0.00001
|
NM_000138.5(FBN1):c.6163+2dup
|
rs794728315
|
0.00001
|
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)
|
rs398123246
|
0.00001
|
NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln)
|
rs369571296
|
0.00001
|
NM_000238.4(KCNH2):c.2092G>A (p.Glu698Lys)
|
rs753966347
|
0.00001
|
NM_000238.4(KCNH2):c.2588G>A (p.Arg863Gln)
|
rs939435672
|
0.00001
|
NM_000238.4(KCNH2):c.2783G>A (p.Gly928Glu)
|
rs1339223823
|
0.00001
|
NM_000238.4(KCNH2):c.3469C>T (p.Pro1157Ser)
|
rs1449906095
|
0.00001
|
NM_000264.5(PTCH1):c.2676C>G (p.Ser892Arg)
|
rs1427672162
|
0.00001
|
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr)
|
rs137852534
|
0.00001
|
NM_000307.5(POU3F4):c.914C>T (p.Ala305Val)
|
rs1354177998
|
0.00001
|
NM_000368.5(TSC1):c.3130G>A (p.Glu1044Lys)
|
rs796053462
|
0.00001
|
NM_000371.4(TTR):c.367C>T (p.Arg123Cys)
|
rs371566010
|
0.00001
|
NM_000435.3(NOTCH3):c.1649C>T (p.Ser550Phe)
|
rs1210611177
|
0.00001
|
NM_000441.2(SLC26A4):c.736A>C (p.Asn246His)
|
rs147078785
|
0.00001
|
NM_000548.5(TSC2):c.5011G>A (p.Val1671Met)
|
rs775395648
|
0.00001
|
NM_000719.7(CACNA1C):c.4074+6C>T
|
rs762974366
|
0.00001
|
NM_000719.7(CACNA1C):c.4946T>C (p.Leu1649Pro)
|
rs762182784
|
0.00001
|
NM_000719.7(CACNA1C):c.6328G>T (p.Gly2110Cys)
|
rs778550803
|
0.00001
|
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn)
|
rs1085307949
|
0.00001
|
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs)
|
rs967826828
|
0.00001
|
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser)
|
rs1163700577
|
0.00001
|
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val)
|
rs144338515
|
0.00001
|
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr)
|
rs556681288
|
0.00001
|
NM_001018005.2(TPM1):c.240+4493G>A
|
rs869025540
|
0.00001
|
NM_001039591.3(USP9X):c.7663T>C (p.Ter2555Arg)
|
rs1186325484
|
0.00001
|
NM_001077365.2(POMT1):c.697_699del (p.Asn233del)
|
rs761863400
|
0.00001
|
NM_001089.3(ABCA3):c.1408A>C (p.Met470Leu)
|
rs772941826
|
0.00001
|
NM_001099922.3(ALG13):c.2066A>G (p.Tyr689Cys)
|
rs1470650822
|
0.00001
|
NM_001103.4(ACTN2):c.1985G>A (p.Arg662Gln)
|
rs764931229
|
0.00001
|
NM_001127178.3(PIGG):c.2499G>C (p.Lys833Asn)
|
rs1056486559
|
0.00001
|
NM_001127208.3(TET2):c.4600C>T (p.Gln1534Ter)
|
rs966055775
|
0.00001
|
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr)
|
rs121908245
|
0.00001
|
NM_001128126.3(AP4S1):c.306+4281A>G
|
rs1228214819
|
0.00001
|
NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln)
|
rs751423380
|
0.00001
|
NM_001134363.3(RBM20):c.404A>G (p.Asn135Ser)
|
rs1460527562
|
0.00001
|
NM_001164507.2(NEB):c.21392A>T (p.Lys7131Met)
|
rs530565802
|
0.00001
|
NM_001184880.2(PCDH19):c.1982A>C (p.Tyr661Ser)
|
rs1928354837
|
0.00001
|
NM_001199753.2(CPT1C):c.449G>A (p.Trp150Ter)
|
rs772980944
|
0.00001
|
NM_001205293.3(CACNA1E):c.2387C>T (p.Ala796Val)
|
rs1320817023
|
0.00001
|
NM_001242896.3(DEPDC5):c.4097G>A (p.Arg1366Gln)
|
rs1064795095
|
0.00001
|
NM_001252102.2(KIF21B):c.865C>T (p.Arg289Trp)
|
rs1459259252
|
0.00001
|
NM_001276345.2(TNNT2):c.601-1G>A
|
rs483352835
|
0.00001
|
NM_001281740.3(FHOD3):c.1016G>A (p.Arg339Gln)
|
rs545624410
|
0.00001
|
NM_001281740.3(FHOD3):c.2263T>A (p.Ser755Thr)
|
rs149817279
|
0.00001
|
NM_001303052.2(MYT1L):c.634G>A (p.Ala212Thr)
|
rs1277588922
|
0.00001
|
NM_001308093.3(GATA4):c.25G>A (p.Ala9Thr)
|
rs864321699
|
0.00001
|
NM_001348768.2(HECW2):c.1072C>T (p.Pro358Ser)
|
rs1194444336
|
0.00001
|
NM_001352754.2(ARMC9):c.2411C>T (p.Ala804Val)
|
rs1477308302
|
0.00001
|
NM_001371986.1(UNC80):c.9497C>T (p.Thr3166Met)
|
rs529047309
|
0.00001
|
NM_001374353.1(GLI2):c.2831C>T (p.Ala944Val)
|
rs1357813577
|
0.00001
|
NM_001378120.1(MBD5):c.103C>A (p.Leu35Ile)
|
rs1201462027
|
0.00001
|
NM_001378414.1(HDAC4):c.145A>G (p.Met49Val)
|
rs1209314417
|
0.00001
|
NM_001379291.1(BRD4):c.1507T>A (p.Ser503Thr)
|
rs1279388211
|
0.00001
|
NM_001379451.1(BCORL1):c.4184C>T (p.Ser1395Leu)
|
rs1223782435
|
0.00001
|
NM_001386795.1(DTNA):c.*2581G>A
|
rs1316954336
|
0.00001
|
NM_001393504.1(MAST3):c.3853G>A (p.Glu1285Lys)
|
rs1414358056
|
0.00001
|
NM_001394998.1(TANC2):c.2500C>T (p.Arg834Cys)
|
rs1282488329
|
0.00001
|
NM_001458.5(FLNC):c.2278G>A (p.Glu760Lys)
|
rs772574007
|
0.00001
|
NM_001458.5(FLNC):c.4471G>A (p.Val1491Met)
|
rs186904046
|
0.00001
|
NM_001458.5(FLNC):c.470G>A (p.Arg157His)
|
rs752919962
|
0.00001
|
NM_001458.5(FLNC):c.490C>T (p.Arg164Trp)
|
rs1460797312
|
0.00001
|
NM_001458.5(FLNC):c.5051C>T (p.Thr1684Met)
|
rs1294213097
|
0.00001
|
NM_001458.5(FLNC):c.5828C>T (p.Thr1943Ile)
|
rs376413798
|
0.00001
|
NM_001458.5(FLNC):c.6233T>C (p.Ile2078Thr)
|
rs780762913
|
0.00001
|
NM_001458.5(FLNC):c.7226G>A (p.Arg2409His)
|
rs767279710
|
0.00001
|
NM_001458.5(FLNC):c.7795G>A (p.Gly2599Arg)
|
rs1389561527
|
0.00001
|
NM_001605.3(AARS1):c.1823C>T (p.Thr608Met)
|
rs1597435885
|
0.00001
|
NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu)
|
rs1246068842
|
0.00001
|
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=)
|
rs925297712
|
0.00001
|
NM_001844.5(COL2A1):c.3702C>A (p.Asp1234Glu)
|
rs891008017
|
0.00001
|
NM_001845.6(COL4A1):c.1238C>T (p.Pro413Leu)
|
rs758969549
|
0.00001
|
NM_001845.6(COL4A1):c.1837C>G (p.Pro613Ala)
|
rs1432737813
|
0.00001
|
NM_001845.6(COL4A1):c.4423T>C (p.Tyr1475His)
|
rs775952266
|
0.00001
|
NM_001845.6(COL4A1):c.4940C>T (p.Pro1647Leu)
|
rs201767532
|
0.00001
|
NM_001851.6(COL9A1):c.2404G>A (p.Gly802Ser)
|
rs774610828
|
0.00001
|
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln)
|
rs774411234
|
0.00001
|
NM_001999.4(FBN2):c.5800+10G>A
|
rs546373462
|
0.00001
|
NM_001999.4(FBN2):c.6148A>G (p.Lys2050Glu)
|
rs863223611
|
0.00001
|
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser)
|
rs765867245
|
0.00001
|
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser)
|
rs199808954
|
0.00001
|
NM_002025.4(AFF2):c.3038C>T (p.Thr1013Met)
|
rs969709894
|
0.00001
|
NM_002025.4(AFF2):c.3164G>A (p.Ser1055Asn)
|
rs781968104
|
0.00001
|
NM_002430.3(MN1):c.2783C>T (p.Ser928Leu)
|
rs746306235
|
0.00001
|
NM_002471.4(MYH6):c.2086C>T (p.Arg696Cys)
|
rs778886029
|
0.00001
|
NM_002641.4(PIGA):c.1177A>G (p.Arg393Gly)
|
rs781095752
|
0.00001
|
NM_002691.4(POLD1):c.2574G>T (p.Glu858Asp)
|
rs1060501820
|
0.00001
|
NM_002700.3(POU4F3):c.553C>T (p.Arg185Cys)
|
rs746613906
|
0.00001
|
NM_002834.5(PTPN11):c.1697C>T (p.Thr566Met)
|
rs150730493
|
0.00001
|
NM_002880.4(RAF1):c.236A>G (p.His79Arg)
|
rs1387880716
|
0.00001
|
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)
|
rs370558210
|
0.00001
|
NM_003070.5(SMARCA2):c.2126C>T (p.Ser709Leu)
|
rs199989401
|
0.00001
|
NM_003179.3(SYP):c.367G>A (p.Ala123Thr)
|
rs782495354
|
0.00001
|
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met)
|
rs1232197674
|
0.00001
|
NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr)
|
rs80338884
|
0.00001
|
NM_003238.6(TGFB2):c.589G>A (p.Glu197Lys)
|
rs764028978
|
0.00001
|
NM_003242.6(TGFBR2):c.1681G>A (p.Gly561Ser)
|
rs768103695
|
0.00001
|
NM_003476.5(CSRP3):c.538G>T (p.Gly180Cys)
|
rs547374738
|
0.00001
|
NM_003545.4(H4C5):c.52C>T (p.Arg18Cys)
|
rs776145717
|
0.00001
|
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)
|
rs758903488
|
0.00001
|
NM_003668.4(MAPKAPK5):c.590C>T (p.Ala197Val)
|
rs947286159
|
0.00001
|
NM_003705.5(SLC25A12):c.870G>C (p.Glu290Asp)
|
rs757002057
|
0.00001
|
NM_004006.3(DMD):c.2303G>A (p.Arg768Gln)
|
rs769377296
|
0.00001
|
NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val)
|
rs761953453
|
0.00001
|
NM_004281.4(BAG3):c.337G>A (p.Val113Ile)
|
rs781093275
|
0.00001
|
NM_004522.3(KIF5C):c.1700C>T (p.Thr567Ile)
|
rs1297108227
|
0.00001
|
NM_004958.4(MTOR):c.5431C>T (p.Arg1811Cys)
|
rs1258909652
|
0.00001
|
NM_005245.4(FAT1):c.10481A>G (p.Gln3494Arg)
|
rs766881276
|
0.00001
|
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)
|
rs542392980
|
0.00001
|
NM_005529.7(HSPG2):c.7012G>A (p.Gly2338Ser)
|
rs374914708
|
0.00001
|
NM_005993.5(TBCD):c.3538G>A (p.Val1180Ile)
|
rs767635450
|
0.00001
|
NM_006015.6(ARID1A):c.6466A>G (p.Ser2156Gly)
|
rs1191962249
|
0.00001
|
NM_007055.4(POLR3A):c.2672G>A (p.Arg891Gln)
|
rs1192248453
|
0.00001
|
NM_007078.3(LDB3):c.1633A>G (p.Ser545Gly)
|
rs1370639524
|
0.00001
|
NM_007317.3(KIF22):c.641C>A (p.Pro214His)
|
rs1024180320
|
0.00001
|
NM_012414.4(RAB3GAP2):c.511-7C>T
|
rs748684063
|
0.00001
|
NM_013254.4(TBK1):c.1201A>G (p.Lys401Glu)
|
rs756751089
|
0.00001
|
NM_013450.4(BAZ2B):c.5599G>A (p.Asp1867Asn)
|
rs1166745502
|
0.00001
|
NM_014112.5(TRPS1):c.2017G>A (p.Val673Ile)
|
rs371305338
|
0.00001
|
NM_014391.3(ANKRD1):c.523G>A (p.Ala175Thr)
|
rs914206942
|
0.00001
|
NM_014855.3(AP5Z1):c.2399G>A (p.Arg800Lys)
|
rs754594403
|
0.00001
|
NM_014855.3(AP5Z1):c.869G>A (p.Arg290Gln)
|
rs778734781
|
0.00001
|
NM_015178.3(RHOBTB2):c.779T>C (p.Leu260Pro)
|
rs1018003807
|
0.00001
|
NM_015295.3(SMCHD1):c.4316A>G (p.Asn1439Ser)
|
rs767898877
|
0.00001
|
NM_015335.5(MED13L):c.3818C>T (p.Thr1273Met)
|
rs775807063
|
0.00001
|
NM_015355.4(SUZ12):c.1874+8A>G
|
rs1910003061
|
0.00001
|
NM_015557.3(CHD5):c.5305A>G (p.Asn1769Asp)
|
rs754161216
|
0.00001
|
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln)
|
rs770654508
|
0.00001
|
NM_016284.5(CNOT1):c.2129A>C (p.Gln710Pro)
|
rs770253714
|
0.00001
|
NM_016373.4(WWOX):c.500G>A (p.Arg167His)
|
rs377356629
|
0.00001
|
NM_017635.5(KMT5B):c.1690T>C (p.Tyr564His)
|
rs1238524382
|
0.00001
|
NM_018670.4(MESP1):c.139C>G (p.Pro47Ala)
|
rs933736116
|
0.00001
|
NM_020297.4(ABCC9):c.2950C>T (p.Arg984Cys)
|
rs78979794
|
0.00001
|
NM_020338.4(ZMIZ1):c.118G>A (p.Gly40Arg)
|
rs764524923
|
0.00001
|
NM_020778.5(ALPK3):c.515T>G (p.Met172Arg)
|
rs767791247
|
0.00001
|
NM_020791.4(TAOK1):c.2494C>T (p.Arg832Cys)
|
rs372056956
|
0.00001
|
NM_020975.6(RET):c.334C>T (p.Arg112Cys)
|
rs762626209
|
0.00001
|
NM_021074.5(NDUFV2):c.669_670insG (p.Ser224fs)
|
rs772188600
|
0.00001
|
NM_021098.3(CACNA1H):c.2471C>T (p.Ala824Val)
|
rs772602372
|
0.00001
|
NM_021625.5(TRPV4):c.1277C>T (p.Thr426Met)
|
rs757522459
|
0.00001
|
NM_021957.4(GYS2):c.1331C>A (p.Thr444Asn)
|
rs759192462
|
0.00001
|
NM_022114.4(PRDM16):c.1573C>T (p.Arg525Trp)
|
rs369644938
|
0.00001
|
NM_022370.4(ROBO3):c.1235C>T (p.Thr412Ile)
|
rs537387358
|
0.00001
|
NM_022436.3(ABCG5):c.1649+2dup
|
rs748047359
|
0.00001
|
NM_024306.5(FA2H):c.965C>T (p.Ser322Leu)
|
rs373010581
|
0.00001
|
NM_024334.3(TMEM43):c.167G>A (p.Arg56His)
|
rs747164382
|
0.00001
|
NM_024334.3(TMEM43):c.346C>T (p.Arg116Trp)
|
rs752588115
|
0.00001
|
NM_024334.3(TMEM43):c.895A>G (p.Arg299Gly)
|
rs757038162
|
0.00001
|
NM_024580.6(EFL1):c.787C>G (p.Leu263Val)
|
rs751006899
|
0.00001
|
NM_025137.4(SPG11):c.6428A>C (p.His2143Pro)
|
rs1490278448
|
0.00001
|
NM_031220.4(PITPNM3):c.2166G>C (p.Gln722His)
|
rs368515060
|
0.00001
|
NM_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln)
|
rs375143574
|
0.00001
|
NM_031407.7(HUWE1):c.811A>G (p.Arg271Gly)
|
rs797044641
|
0.00001
|
NM_032119.4(ADGRV1):c.1309C>T (p.Arg437Trp)
|
rs765063390
|
0.00001
|
NM_032119.4(ADGRV1):c.5521C>T (p.Arg1841Cys)
|
rs367621359
|
0.00001
|
NM_032588.4(TRIM63):c.335G>A (p.Arg112Gln)
|
rs775364417
|
0.00001
|
NM_032620.4(GTPBP3):c.1385G>A (p.Arg462Gln)
|
rs753748448
|
0.00001
|
NM_053025.4(MYLK):c.3916G>A (p.Gly1306Ser)
|
rs755117377
|
0.00001
|
NM_138422.4(ADAT3):c.748C>T (p.Arg250Cys)
|
rs1368212261
|
0.00001
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
NM_138694.4(PKHD1):c.12225A>T (p.Ter4075Cys)
|
rs1347911533
|
0.00001
|
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys)
|
rs794727366
|
0.00001
|
NM_152490.5(B3GALNT2):c.205G>A (p.Val69Met)
|
rs534508633
|
0.00001
|
NM_153676.4(USH1C):c.194T>C (p.Leu65Pro)
|
rs1186965957
|
0.00001
|
NM_170675.5(MEIS2):c.505G>A (p.Asp169Asn)
|
rs1039511168
|
0.00001
|
NM_172107.4(KCNQ2):c.1382A>C (p.Gln461Pro)
|
rs1057516116
|
0.00001
|
NM_172201.2(KCNE2):c.160A>G (p.Met54Val)
|
rs371724328
|
0.00001
|
NM_172240.3(POC1B):c.103A>G (p.Thr35Ala)
|
rs1457032726
|
0.00001
|
NM_173630.4(RTTN):c.3787C>G (p.Leu1263Val)
|
rs769785834
|
0.00001
|
NM_176787.5(PIGN):c.1379T>C (p.Leu460Ser)
|
rs1250732619
|
0.00001
|
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys)
|
rs973621936
|
0.00001
|
NM_194248.3(OTOF):c.4423G>A (p.Asp1475Asn)
|
rs759839598
|
0.00001
|
NM_198271.5(LMOD3):c.166G>A (p.Asp56Asn)
|
rs1469953832
|
0.00001
|
NM_198334.3(GANAB):c.2830C>T (p.Arg944Ter)
|
rs781470089
|
0.00001
|
NM_198578.4(LRRK2):c.4235G>A (p.Arg1412Gln)
|
rs751263185
|
0.00001
|
NM_206933.4(USH2A):c.5298+5G>A
|
rs1176314553
|
0.00001
|
NC_000007.14:g.158815519_159037266dup
|
|
|
NC_000012.12:g.132237283_132491257dup
|
|
|
NC_000016.10:g.14683149_16205174dup
|
|
|
NC_012920.1(MT-CYB):m.12278T>C
|
rs1603223646
|
|
NM_000016.6(ACADM):c.71A>G (p.His24Arg)
|
|
|
NM_000033.4(ABCD1):c.896A>G (p.His299Arg)
|
rs782430461
|
|
NM_000052.7(ATP7A):c.120+7T>C
|
rs2149073895
|
|
NM_000052.7(ATP7A):c.2048A>G (p.His683Arg)
|
|
|
NM_000052.7(ATP7A):c.3511+8A>C
|
rs2149107265
|
|
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile)
|
rs876661235
|
|
NM_000053.4(ATP7B):c.236G>A (p.Arg79Lys)
|
|
|
NM_000071.3(CBS):c.209C>G (p.Pro70Arg)
|
|
|
NM_000088.4(COL1A1):c.4369G>C (p.Asp1457His)
|
|
|
NM_000091.5(COL4A3):c.1304C>T (p.Pro435Leu)
|
rs2070741592
|
|
NM_000092.5(COL4A4):c.4367A>G (p.Lys1456Arg)
|
rs770419378
|
|
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser)
|
rs370547479
|
|
NM_000093.5(COL5A1):c.3865G>A (p.Glu1289Lys)
|
|
|
NM_000093.5(COL5A1):c.622G>A (p.Gly208Ser)
|
|
|
NM_000093.5(COL5A1):c.775C>G (p.Pro259Ala)
|
|
|
NM_000110.4(DPYD):c.1757T>C (p.Val586Ala)
|
|
|
NM_000110.4(DPYD):c.1905+17A>G
|
|
|
NM_000110.4(DPYD):c.2183G>T (p.Gly728Val)
|
|
|
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)
|
|
|
NM_000123.4(ERCC5):c.1669G>A (p.Asp557Asn)
|
|
|
NM_000123.4(ERCC5):c.2600C>T (p.Pro867Leu)
|
rs573839835
|
|
NM_000138.5(FBN1):c.2521A>T (p.Thr841Ser)
|
rs1381506466
|
|
NM_000138.5(FBN1):c.4163G>T (p.Arg1388Leu)
|
rs749196340
|
|
NM_000141.5(FGFR2):c.763C>T (p.Arg255Trp)
|
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000153.4(GALC):c.82G>T (p.Ala28Ser)
|
|
|
NM_000158.4(GBE1):c.1644G>C (p.Trp548Cys)
|
rs1703086549
|
|
NM_000168.6(GLI3):c.1627G>A (p.Glu543Lys)
|
rs121917711
|
|
NM_000168.6(GLI3):c.2686G>C (p.Asp896His)
|
|
|
NM_000181.4(GUSB):c.1574T>C (p.Phe525Ser)
|
|
|
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)
|
rs536814318
|
|
NM_000193.4(SHH):c.494C>A (p.Ala165Glu)
|
|
|
NM_000199.5(SGSH):c.617G>A (p.Arg206His)
|
|
|
NM_000202.8(IDS):c.890G>A (p.Arg297His)
|
|
|
NM_000206.3(IL2RG):c.75_77del (p.Thr26del)
|
rs758742212
|
|
NM_000214.3(JAG1):c.744A>T (p.Pro248=)
|
|
|
NM_000238.4(KCNH2):c.1015A>T (p.Asn339Tyr)
|
|
|
NM_000238.4(KCNH2):c.1225G>A (p.Val409Met)
|
rs539146547
|
|
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro)
|
rs1801182500
|
|
NM_000238.4(KCNH2):c.1900A>C (p.Thr634Pro)
|
|
|
NM_000238.4(KCNH2):c.243G>C (p.Gln81His)
|
rs199472849
|
|
NM_000238.4(KCNH2):c.2482T>C (p.Cys828Arg)
|
rs1801029729
|
|
NM_000238.4(KCNH2):c.508CTG[4] (p.Leu171_Ala172insLeuLeu)
|
rs1801462189
|
|
NM_000238.4(KCNH2):c.731C>G (p.Ala244Gly)
|
rs748762712
|
|
NM_000257.4(MYH7):c.3325A>G (p.Lys1109Glu)
|
rs1429196201
|
|
NM_000260.4(MYO7A):c.2120G>C (p.Arg707Pro)
|
rs782176754
|
|
NM_000260.4(MYO7A):c.5422_5436del (p.Pro1808_Glu1812del)
|
rs1957277819
|
|
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr)
|
rs781101191
|
|
NM_000264.5(PTCH1):c.2388A>C (p.Lys796Asn)
|
|
|
NM_000264.5(PTCH1):c.431G>A (p.Arg144His)
|
rs1316474105
|
|
NM_000271.5(NPC1):c.1289C>G (p.Pro430Arg)
|
rs2145455455
|
|
NM_000271.5(NPC1):c.1298C>T (p.Pro433Leu)
|
rs1064793791
|
|
NM_000271.5(NPC1):c.1312C>A (p.Gln438Lys)
|
|
|
NM_000271.5(NPC1):c.631+5G>A
|
|
|
NM_000276.4(OCRL):c.1190T>A (p.Met397Lys)
|
|
|
NM_000284.4(PDHA1):c.1091T>G (p.Leu364Arg)
|
|
|
NM_000284.4(PDHA1):c.194A>C (p.Tyr65Ser)
|
|
|
NM_000284.4(PDHA1):c.57+2505C>G
|
|
|
NM_000291.4(PGK1):c.418-7T>G
|
|
|
NM_000291.4(PGK1):c.522C>T (p.Ser174=)
|
|
|
NM_000297.4(PKD2):c.1790T>G (p.Leu597Arg)
|
|
|
NM_000297.4(PKD2):c.2475_2477del (p.Arg827del)
|
|
|
NM_000297.4(PKD2):c.2522+1G>T
|
|
|
NM_000297.4(PKD2):c.908C>G (p.Ala303Gly)
|
|
|
NM_000314.8(PTEN):c.-307del
|
rs1858374988
|
|
NM_000314.8(PTEN):c.-318G>T
|
rs2132143454
|
|
NM_000314.8(PTEN):c.254-6C>T
|
rs1057520525
|
|
NM_000335.5(SCN5A):c.3803A>G (p.Asn1268Ser)
|
rs761274563
|
|
NM_000335.5(SCN5A):c.5896del (p.Ser1966fs)
|
|
|
NM_000338.3(SLC12A1):c.1511C>T (p.Thr504Ile)
|
|
|
NM_000345.4(SNCA):c.89C>G (p.Ala30Gly)
|
rs2110525413
|
|
NM_000348.4(SRD5A2):c.699-3T>C
|
|
|
NM_000350.3(ABCA4):c.1254T>A (p.Phe418Leu)
|
|
|
NM_000350.3(ABCA4):c.1267_1268inv (p.His423Cys)
|
|
|
NM_000350.3(ABCA4):c.173A>T (p.Asn58Ile)
|
|
|
NM_000350.3(ABCA4):c.5905G>A (p.Gly1969Ser)
|
|
|
NM_000368.5(TSC1):c.2502G>A (p.Lys834=)
|
|
|
NM_000381.4(MID1):c.1649G>A (p.Ser550Asn)
|
|
|
NM_000390.4(CHM):c.1960T>C (p.Ter654Gln)
|
rs1168750683
|
|
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu)
|
rs727503953
|
|
NM_000404.4(GLB1):c.2010dup (p.Asp671fs)
|
rs1165249729
|
|
NM_000426.4(LAMA2):c.5968+5G>C
|
rs1462533216
|
|
NM_000432.4(MYL2):c.205A>C (p.Met69Leu)
|
rs2136772287
|
|
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
|
|
|
NM_000435.3(NOTCH3):c.2723T>A (p.Phe908Tyr)
|
|
|
NM_000435.3(NOTCH3):c.457C>A (p.Arg153Ser)
|
|
|
NM_000435.3(NOTCH3):c.61C>T (p.Pro21Ser)
|
|
|
NM_000435.3(NOTCH3):c.6620G>A (p.Arg2207Gln)
|
|
|
NM_000458.4(HNF1B):c.1580G>A (p.Arg527Gln)
|
|
|
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
|
|
|
NM_000458.4(HNF1B):c.658G>C (p.Asp220His)
|
rs377555356
|
|
NM_000458.4(HNF1B):c.758A>T (p.Gln253Leu)
|
|
|
NM_000466.3(PEX1):c.1730G>A (p.Arg577His)
|
|
|
NM_000466.3(PEX1):c.2165T>C (p.Leu722Pro)
|
|
|
NM_000466.3(PEX1):c.3085G>T (p.Asp1029Tyr)
|
|
|
NM_000487.6(ARSA):c.1360G>A (p.Val454Met)
|
|
|
NM_000493.4(COL10A1):c.1637T>A (p.Val546Glu)
|
rs2114279867
|
|
NM_000501.4(ELN):c.1484T>G (p.Val495Gly)
|
|
|
NM_000521.4(HEXB):c.1061A>G (p.Asp354Gly)
|
rs781244479
|
|
NM_000548.5(TSC2):c.3671ACA[1] (p.Asn1225del)
|
rs2151481692
|
|
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)
|
rs2090628516
|
|
NM_000642.3(AGL):c.2681+4dup
|
rs754242194
|
|
NM_000701.8(ATP1A1):c.8A>C (p.Lys3Thr)
|
rs976510541
|
|
NM_000719.7(CACNA1C):c.1237G>A (p.Glu413Lys)
|
|
|
NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys)
|
rs1057524804
|
|
NM_000719.7(CACNA1C):c.2530+4C>T
|
rs2153232586
|
|
NM_000719.7(CACNA1C):c.3159A>G (p.Gly1053=)
|
rs764298283
|
|
NM_000719.7(CACNA1C):c.3866T>G (p.Leu1289Trp)
|
rs2153572497
|
|
NM_000719.7(CACNA1C):c.4910A>G (p.Gln1637Arg)
|
|
|
NM_000719.7(CACNA1C):c.5098G>C (p.Gly1700Arg)
|
rs761966966
|
|
NM_000719.7(CACNA1C):c.5528A>G (p.His1843Arg)
|
|
|
NM_000719.7(CACNA1C):c.5609C>A (p.Thr1870Lys)
|
rs201777030
|
|
NM_000722.4(CACNA2D1):c.2207C>G (p.Ala736Gly)
|
|
|
NM_000760.4(CSF3R):c.2495C>A (p.Ala832Glu)
|
|
|
NM_000781.3(CYP11A1):c.425+4A>T
|
|
|
NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
|
|
|
NM_000812.4(GABRB1):c.1243G>C (p.Gly415Arg)
|
|
|
NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser)
|
rs763319754
|
|
NM_000814.6(GABRB3):c.1340C>T (p.Ala447Val)
|
|
|
NM_000815.5(GABRD):c.286C>T (p.Arg96Trp)
|
|
|
NM_000827.4(GRIA1):c.269A>C (p.Glu90Ala)
|
rs2149453376
|
|
NM_000834.5(GRIN2B):c.4244C>G (p.Ser1415Trp)
|
|
|
NM_000883.4(IMPDH1):c.662G>A (p.Arg221Gln)
|
|
|
NM_000891.3(KCNJ2):c.1169G>T (p.Ser390Ile)
|
|
|
NM_000901.5(NR3C2):c.56G>A (p.Trp19Ter)
|
rs1553943428
|
|
NM_000937.5(POLR2A):c.5672C>T (p.Thr1891Ile)
|
|
|
NM_000969.5(RPL5):c.528-1G>A
|
|
|
NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
|
|
|
NM_001003694.2(BRPF1):c.1870A>G (p.Ile624Val)
|
|
|
NM_001003694.2(BRPF1):c.1952A>G (p.Asn651Ser)
|
|
|
NM_001003694.2(BRPF1):c.1990G>A (p.Glu664Lys)
|
|
|
NM_001003694.2(BRPF1):c.218A>G (p.Lys73Arg)
|
rs1447732161
|
|
NM_001003694.2(BRPF1):c.2573G>T (p.Cys858Phe)
|
|
|
NM_001003694.2(BRPF1):c.809T>A (p.Val270Glu)
|
|
|
NM_001003694.2(BRPF1):c.89A>G (p.Lys30Arg)
|
|
|
NM_001005242.3(PKP2):c.1114G>A (p.Ala372Thr)
|
rs200586695
|
|
NM_001005242.3(PKP2):c.1163G>C (p.Arg388Pro)
|
rs756000218
|
|
NM_001005242.3(PKP2):c.964G>A (p.Gly322Ser)
|
rs200069860
|
|
NM_001005273.3(CHD3):c.2947A>G (p.Ile983Val)
|
|
|
NM_001005273.3(CHD3):c.4381C>T (p.Arg1461Cys)
|
|
|
NM_001005273.3(CHD3):c.5754G>A (p.Pro1918=)
|
|
|
NM_001005273.3(CHD3):c.5896C>A (p.Pro1966Thr)
|
rs201611412
|
|
NM_001005388.3(NFASC):c.22C>T (p.Pro8Ser)
|
|
|
NM_001007527.2(LMBRD2):c.1792G>C (p.Glu598Gln)
|
rs1581040967
|
|
NM_001008537.3(NEXMIF):c.1382G>A (p.Arg461His)
|
|
|
NM_001009944.3(PKD1):c.10785C>A (p.Ser3595Arg)
|
|
|
NM_001009944.3(PKD1):c.10973A>G (p.Lys3658Arg)
|
|
|
NM_001009944.3(PKD1):c.10G>C (p.Ala4Pro)
|
|
|
NM_001009944.3(PKD1):c.11017-25A>C
|
rs2151704874
|
|
NM_001009944.3(PKD1):c.11411+5G>A
|
|
|
NM_001009944.3(PKD1):c.11713-3C>A
|
|
|
NM_001009944.3(PKD1):c.11962C>T (p.Arg3988Cys)
|
rs747425659
|
|
NM_001009944.3(PKD1):c.11988_11996del (p.Phe3996_Leu3998del)
|
|
|
NM_001009944.3(PKD1):c.12205A>G (p.Thr4069Ala)
|
|
|
NM_001009944.3(PKD1):c.12334G>C (p.Ala4112Pro)
|
|
|
NM_001009944.3(PKD1):c.12445-17_12445-3del
|
rs2151678927
|
|
NM_001009944.3(PKD1):c.1265TGG[2] (p.Val424del)
|
rs1596588396
|
|
NM_001009944.3(PKD1):c.12878G>A (p.Arg4293Gln)
|
|
|
NM_001009944.3(PKD1):c.2139C>A (p.Asp713Glu)
|
|
|
NM_001009944.3(PKD1):c.2170G>T (p.Gly724Cys)
|
|
|
NM_001009944.3(PKD1):c.3308T>G (p.Leu1103Arg)
|
rs2151801930
|
|
NM_001009944.3(PKD1):c.4047C>G (p.Phe1349Leu)
|
rs770459654
|
|
NM_001009944.3(PKD1):c.4121T>A (p.Ile1374Asn)
|
|
|
NM_001009944.3(PKD1):c.416G>T (p.Trp139Leu)
|
|
|
NM_001009944.3(PKD1):c.4451C>T (p.Pro1484Leu)
|
|
|
NM_001009944.3(PKD1):c.4500G>C (p.Trp1500Cys)
|
|
|
NM_001009944.3(PKD1):c.4572_4574del (p.Val1525del)
|
|
|
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)
|
rs1567198691
|
|
NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His)
|
|
|
NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp)
|
rs2151788281
|
|
NM_001009944.3(PKD1):c.6512C>A (p.Ala2171Asp)
|
|
|
NM_001009944.3(PKD1):c.7013T>G (p.Phe2338Cys)
|
|
|
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met)
|
rs1367567191
|
|
NM_001009944.3(PKD1):c.7324G>A (p.Glu2442Lys)
|
|
|
NM_001009944.3(PKD1):c.7381G>A (p.Ala2461Thr)
|
|
|
NM_001009944.3(PKD1):c.7390C>T (p.Arg2464Cys)
|
|
|
NM_001009944.3(PKD1):c.7949T>C (p.Leu2650Pro)
|
|
|
NM_001009944.3(PKD1):c.8072T>G (p.Leu2691Arg)
|
|
|
NM_001009944.3(PKD1):c.8276T>C (p.Leu2759Pro)
|
|
|
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr)
|
rs879809222
|
|
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr)
|
rs1596527405
|
|
NM_001009944.3(PKD1):c.8471A>G (p.Gln2824Arg)
|
|
|
NM_001009944.3(PKD1):c.8756G>A (p.Gly2919Glu)
|
|
|
NM_001009944.3(PKD1):c.8769G>C (p.Gln2923His)
|
|
|
NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser)
|
|
|
NM_001009944.3(PKD1):c.9401C>T (p.Thr3134Ile)
|
rs2092053154
|
|
NM_001009944.3(PKD1):c.9602_9607del (p.Ile3201_Val3202del)
|
|
|
NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala)
|
rs1085307551
|
|
NM_001009999.3(KDM1A):c.1123_1126dup (p.Ile376fs)
|
|
|
NM_001009999.3(KDM1A):c.1974del (p.Pro659fs)
|
|
|
NM_001009999.3(KDM1A):c.211C>T (p.Pro71Ser)
|
|
|
NM_001009999.3(KDM1A):c.2435G>C (p.Gly812Ala)
|
|
|
NM_001009999.3(KDM1A):c.2563G>A (p.Gly855Arg)
|
|
|
NM_001010874.5(TECRL):c.55C>T (p.Gln19Ter)
|
|
|
NM_001013839.4(EXOC7):c.1776+1G>A
|
|
|
NM_001014437.3(CARS1):c.1013T>C (p.Ile338Thr)
|
rs1852411252
|
|
NM_001014437.3(CARS1):c.1431C>G (p.Phe477Leu)
|
|
|
NM_001018005.2(TPM1):c.115-6T>C
|
|
|
NM_001018005.2(TPM1):c.68A>C (p.Glu23Ala)
|
rs2140595470
|
|
NM_001018008.2(TPM1):c.707A>G (p.Asn236Ser)
|
|
|
NM_001018115.3(FANCD2):c.2348G>T (p.Cys783Phe)
|
|
|
NM_001024845.3(SLC6A9):c.1525_1526del (p.Ala509fs)
|
rs749973223
|
|
NM_001029896.2(WDR45):c.1045G>A (p.Asp349Asn)
|
|
|
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)
|
rs786205455
|
|
NM_001035.3(RYR2):c.12340C>G (p.Arg4114Gly)
|
|
|
NM_001035.3(RYR2):c.13273A>G (p.Lys4425Glu)
|
rs2149359920
|
|
NM_001035.3(RYR2):c.14722C>A (p.His4908Asn)
|
|
|
NM_001040142.2(SCN2A):c.2189A>T (p.Tyr730Phe)
|
|
|
NM_001040142.2(SCN2A):c.5750G>A (p.Arg1917Lys)
|
rs2105403810
|
|
NM_001040142.2(SCN2A):c.606A>G (p.Ala202=)
|
rs2105244839
|
|
NM_001040616.3(LINS1):c.1815G>T (p.Met605Ile)
|
|
|
NM_001042424.3(NSD2):c.2155G>A (p.Val719Met)
|
rs200415868
|
|
NM_001042492.3(NF1):c.1865G>A (p.Cys622Tyr)
|
rs535869486
|
|
NM_001042492.3(NF1):c.288+4A>T
|
rs781459468
|
|
NM_001042681.2(RERE):c.2565C>A (p.His855Gln)
|
rs1641546992
|
|
NM_001042681.2(RERE):c.2629C>A (p.Gln877Lys)
|
|
|
NM_001042681.2(RERE):c.2650C>T (p.Pro884Ser)
|
|
|
NM_001042681.2(RERE):c.2814G>C (p.Gln938His)
|
|
|
NM_001042681.2(RERE):c.3136C>G (p.Pro1046Ala)
|
rs977359991
|
|
NM_001042750.2(STAG2):c.2359G>A (p.Ala787Thr)
|
|
|
NM_001077350.3(NPRL3):c.1557C>G (p.Tyr519Ter)
|
rs2141895094
|
|
NM_001077365.2(POMT1):c.677T>C (p.Leu226Pro)
|
rs1554774207
|
|
NM_001079802.2(FKTN):c.314G>T (p.Cys105Phe)
|
rs786205597
|
|
NM_001079872.2(CUL4B):c.2092C>T (p.His698Tyr)
|
rs2147325555
|
|
NM_001079872.2(CUL4B):c.881G>T (p.Arg294Ile)
|
rs866840262
|
|
NM_001079872.2(CUL4B):c.995T>C (p.Ile332Thr)
|
rs1924204795
|
|
NM_001080453.3(INTS1):c.2285C>A (p.Thr762Asn)
|
|
|
NM_001080453.3(INTS1):c.4969C>T (p.Arg1657Cys)
|
|
|
NM_001080453.3(INTS1):c.5399G>A (p.Arg1800Gln)
|
|
|
NM_001080453.3(INTS1):c.5776G>A (p.Glu1926Lys)
|
|
|
NM_001080453.3(INTS1):c.5970C>G (p.Phe1990Leu)
|
rs138397380
|
|
NM_001080477.4(TENM3):c.4487G>A (p.Arg1496Gln)
|
|
|
NM_001080477.4(TENM3):c.6605C>T (p.Thr2202Met)
|
|
|
NM_001080517.3(SETD5):c.25G>T (p.Val9Phe)
|
|
|
NM_001080517.3(SETD5):c.3742C>T (p.Arg1248Trp)
|
|
|
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys)
|
rs2131844929
|
|
NM_001081.4(CUBN):c.4350+5G>A
|
rs200324164
|
|
NM_001081.4(CUBN):c.9273C>G (p.Cys3091Trp)
|
rs558940054
|
|
NM_001081550.2(THOC2):c.4318A>G (p.Ile1440Val)
|
|
|
NM_001083614.2(EARS2):c.1488+61del
|
|
|
NM_001083614.2(EARS2):c.296G>C (p.Gly99Ala)
|
|
|
NM_001083619.3(GRIA2):c.2491G>C (p.Ala831Pro)
|
|
|
NM_001083961.2(WDR62):c.3083-2A>T
|
|
|
NM_001083961.2(WDR62):c.3336-6C>G
|
|
|
NM_001083961.2(WDR62):c.4397T>A (p.Leu1466Gln)
|
rs2145889410
|
|
NM_001083962.2(TCF4):c.1112C>T (p.Ser371Leu)
|
|
|
NM_001083962.2(TCF4):c.305-159dup
|
|
|
NM_001084.5(PLOD3):c.889C>G (p.Arg297Gly)
|
|
|
NM_001098.3(ACO2):c.1253C>T (p.Pro418Leu)
|
|
|
NM_001098.3(ACO2):c.296A>G (p.Gln99Arg)
|
|
|
NM_001099274.3(TINF2):c.1288C>T (p.Pro430Ser)
|
rs374776408
|
|
NM_001099274.3(TINF2):c.896T>G (p.Val299Gly)
|
rs1050040349
|
|
NM_001101362.3(KBTBD13):c.848dup (p.Cys284fs)
|
rs2140545005
|
|
NM_001101426.4(CRPPA):c.1206del (p.Glu403fs)
|
|
|
NM_001102401.4(TTI2):c.1086C>A (p.Tyr362Ter)
|
rs746387467
|
|
NM_001103.4(ACTN2):c.1046A>G (p.Gln349Arg)
|
|
|
NM_001103.4(ACTN2):c.2240C>T (p.Ala747Val)
|
rs1060503686
|
|
NM_001105206.3(LAMA4):c.2201C>T (p.Ser734Phe)
|
|
|
NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu)
|
rs200881320
|
|
NM_001110556.2(FLNA):c.5143C>T (p.Pro1715Ser)
|
rs2148107445
|
|
NM_001110556.2(FLNA):c.6667G>T (p.Gly2223Trp)
|
rs2148103926
|
|
NM_001110556.2(FLNA):c.7403G>A (p.Gly2468Asp)
|
|
|
NM_001111125.3(IQSEC2):c.2750G>C (p.Gly917Ala)
|
|
|
NM_001111125.3(IQSEC2):c.2770A>G (p.Ile924Val)
|
rs2147060656
|
|
NM_001111125.3(IQSEC2):c.2833G>A (p.Asp945Asn)
|
|
|
NM_001111125.3(IQSEC2):c.3015+3A>G
|
|
|
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)
|
rs1830376644
|
|
NM_001114753.3(ENG):c.503T>A (p.Ile168Asn)
|
rs2131890414
|
|
NM_001122764.3(PPOX):c.491A>G (p.Asp164Gly)
|
|
|
NM_001127178.3(PIGG):c.228G>T (p.Leu76Phe)
|
rs782727523
|
|
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2075A>G (p.Tyr692Cys)
|
rs2057841267
|
|
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu)
|
rs1568493631
|
|
NM_001127222.2(CACNA1A):c.4328A>G (p.Asp1443Gly)
|
rs2056674575
|
|
NM_001127222.2(CACNA1A):c.6862del (p.Gln2288fs)
|
rs2144493067
|
|
NM_001127222.2(CACNA1A):c.7109G>A (p.Arg2370Gln)
|
|
|
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)
|
|
|
NM_001127222.2(CACNA1A):c.979-3C>G
|
|
|
NM_001127898.4(CLCN5):c.1150T>C (p.Trp384Arg)
|
|
|
NM_001127898.4(CLCN5):c.1420G>A (p.Glu474Lys)
|
|
|
NM_001127898.4(CLCN5):c.1474G>A (p.Val492Met)
|
rs368039993
|
|
NM_001127898.4(CLCN5):c.1A>G (p.Met1Val)
|
|
|
NM_001128.6(AP1G1):c.1301G>A (p.Arg434His)
|
|
|
NM_001130004.2(ACTN1):c.631_651del (p.Val211_Asp217del)
|
|
|
NM_001130053.5(EEF1D):c.1753C>T (p.Arg585Cys)
|
|
|
NM_001130438.3(SPTAN1):c.136T>C (p.Phe46Leu)
|
|
|
NM_001130438.3(SPTAN1):c.1708G>A (p.Ala570Thr)
|
rs2131129868
|
|
NM_001130823.3(DNMT1):c.3256G>A (p.Glu1086Lys)
|
|
|
NM_001130987.2(DYSF):c.6262C>T (p.Leu2088Phe)
|
|
|
NM_001134232.2(TMEM106B):c.523G>A (p.Val175Ile)
|
|
|
NM_001134363.3(RBM20):c.1969_1970delinsAT (p.Ser657Ile)
|
|
|
NM_001134382.3(IQSEC1):c.2194C>T (p.Leu732Phe)
|
|
|
NM_001134382.3(IQSEC1):c.3028G>A (p.Gly1010Ser)
|
|
|
NM_001134407.3(GRIN2A):c.2572G>C (p.Gly858Arg)
|
|
|
NM_001134673.4(NFIA):c.186T>G (p.Ser62Arg)
|
|
|
NM_001134673.4(NFIA):c.293A>G (p.Lys98Arg)
|
|
|
NM_001134673.4(NFIA):c.310G>T (p.Val104Phe)
|
|
|
NM_001134673.4(NFIA):c.504A>G (p.Ile168Met)
|
|
|
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
|
rs374009466
|
|
NM_001134831.2(AHI1):c.2036+6T>G
|
rs2128037867
|
|
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val)
|
rs529407899
|
|
NM_001135146.2(SLC39A8):c.16_28del (p.Ala6fs)
|
|
|
NM_001136157.2(OTUD5):c.491G>A (p.Gly164Asp)
|
rs2147701465
|
|
NM_001145073.3(USP27X):c.1032G>C (p.Glu344Asp)
|
|
|
NM_001145358.2(SIN3A):c.3359C>G (p.Ala1120Gly)
|
rs2141382956
|
|
NM_001145809.2(MYH14):c.2929G>C (p.Glu977Gln)
|
|
|
NM_001145809.2(MYH14):c.2933T>C (p.Leu978Pro)
|
|
|
NM_001148.6(ANK2):c.5609C>T (p.Ser1870Leu)
|
rs869025360
|
|
NM_001160148.2(DDHD1):c.1373G>A (p.Arg458Gln)
|
rs1884724474
|
|
NM_001160372.4(TRAPPC9):c.2892G>T (p.Lys964Asn)
|
|
|
NM_001162498.3(LPAR6):c.107G>A (p.Cys36Tyr)
|
rs2138203806
|
|
NM_001162501.2(TNRC6B):c.253C>G (p.Arg85Gly)
|
|
|
NM_001162501.2(TNRC6B):c.3163A>G (p.Asn1055Asp)
|
rs2146517455
|
|
NM_001162501.2(TNRC6B):c.917G>A (p.Ser306Asn)
|
|
|
NM_001164508.2(NEB):c.11210C>T (p.Ser3737Phe)
|
|
|
NM_001164508.2(NEB):c.20456G>A (p.Arg6819Gln)
|
|
|
NM_001164508.2(NEB):c.23034T>A (p.Asp7678Glu)
|
|
|
NM_001165963.4(SCN1A):c.1727G>A (p.Ser576Asn)
|
rs1697492585
|
|
NM_001165963.4(SCN1A):c.4837A>G (p.Ile1613Val)
|
|
|
NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp)
|
rs748090629
|
|
NM_001165963.4(SCN1A):c.836A>G (p.Gln279Arg)
|
|
|
NM_001165963.4(SCN1A):c.926_931del (p.Val309_Phe310del)
|
rs2105888808
|
|
NM_001166114.2(PNPLA6):c.1612G>A (p.Val538Met)
|
|
|
NM_001170629.2(CHD8):c.2764G>A (p.Ala922Thr)
|
rs1013103711
|
|
NM_001170629.2(CHD8):c.4448G>C (p.Cys1483Ser)
|
|
|
NM_001170629.2(CHD8):c.6601C>T (p.Pro2201Ser)
|
|
|
NM_001170629.2(CHD8):c.6853AAG[2] (p.Lys2287del)
|
rs755776815
|
|
NM_001170629.2(CHD8):c.7533G>C (p.Leu2511Phe)
|
|
|
NM_001171.6(ABCC6):c.1576C>T (p.Arg526Trp)
|
|
|
NM_001172509.2(SATB2):c.1628G>A (p.Arg543His)
|
|
|
NM_001174147.2(LMX1B):c.886+36G>A
|
|
|
NM_001177676.2(GPR68):c.975dup (p.Glu326fs)
|
|
|
NM_001184880.2(PCDH19):c.475G>C (p.Gly159Arg)
|
|
|
NM_001190274.2(FBXO11):c.1272G>C (p.Glu424Asp)
|
rs1487329821
|
|
NM_001190737.2(NFIB):c.328G>A (p.Asp110Asn)
|
|
|
NM_001190737.2(NFIB):c.799C>G (p.Pro267Ala)
|
|
|
NM_001190737.2(NFIB):c.86A>G (p.Tyr29Cys)
|
|
|
NM_001195263.2(PDZD7):c.287G>T (p.Arg96Met)
|
rs758884514
|
|
NM_001195263.2(PDZD7):c.680G>A (p.Arg227His)
|
rs200730376
|
|
NM_001195263.2(PDZD7):c.806T>G (p.Ile269Ser)
|
|
|
NM_001197104.2(KMT2A):c.1082T>C (p.Ile361Thr)
|
|
|
NM_001197104.2(KMT2A):c.1610G>C (p.Ser537Thr)
|
|
|
NM_001197104.2(KMT2A):c.209G>A (p.Ser70Asn)
|
rs1177309170
|
|
NM_001197104.2(KMT2A):c.2326G>C (p.Val776Leu)
|
|
|
NM_001197104.2(KMT2A):c.3283G>A (p.Ala1095Thr)
|
|
|
NM_001197104.2(KMT2A):c.4915C>A (p.Leu1639Ile)
|
|
|
NM_001197104.2(KMT2A):c.5005-3T>C
|
|
|
NM_001197104.2(KMT2A):c.526C>T (p.Arg176Cys)
|
|
|
NM_001197104.2(KMT2A):c.6709A>G (p.Thr2237Ala)
|
rs1950517622
|
|
NM_001197104.2(KMT2A):c.9911T>G (p.Leu3304Arg)
|
|
|
NM_001198533.2(OXR1):c.221-21184C>T
|
|
|
NM_001202.6(BMP4):c.169T>C (p.Phe57Leu)
|
|
|
NM_001204.7(BMPR2):c.89A>G (p.Gln30Arg)
|
|
|
NM_001205293.3(CACNA1E):c.2603A>G (p.Asp868Gly)
|
|
|
NM_001205293.3(CACNA1E):c.4165C>T (p.Arg1389Ter)
|
rs2102689215
|
|
NM_001205293.3(CACNA1E):c.4608C>T (p.Asn1536=)
|
rs2102718155
|
|
NM_001205293.3(CACNA1E):c.6581C>G (p.Pro2194Arg)
|
|
|
NM_001206999.2(CIT):c.4933C>A (p.Gln1645Lys)
|
|
|
NM_001206999.2(CIT):c.731C>T (p.Ala244Val)
|
|
|
NM_001211.6(BUB1B):c.1375A>C (p.Thr459Pro)
|
|
|
NM_001220.5(CAMK2B):c.1310del (p.Pro437fs)
|
|
|
NM_001220.5(CAMK2B):c.1837G>C (p.Asp613His)
|
|
|
NM_001242896.3(DEPDC5):c.4633G>A (p.Gly1545Ser)
|
rs1229311796
|
|
NM_001242896.3(DEPDC5):c.4790A>G (p.Lys1597Arg)
|
|
|
NM_001243133.2(NLRP3):c.2068G>A (p.Glu690Lys)
|
rs180177495
|
|
NM_001243226.3(TCF4):c.86T>C (p.Met29Thr)
|
rs748774594
|
|
NM_001244926.2(PRPF4):c.750-11G>A
|
|
|
NM_001253852.3(AP4B1):c.1075G>A (p.Val359Met)
|
|
|
NM_001256007.3(PNPLA8):c.1844T>A (p.Phe615Tyr)
|
|
|
NM_001256007.3(PNPLA8):c.2161G>A (p.Glu721Lys)
|
rs1859698620
|
|
NM_001256007.3(PNPLA8):c.929T>C (p.Val310Ala)
|
|
|
NM_001257096.2(PAX1):c.967T>C (p.Trp323Arg)
|
|
|
NM_001257180.2(SLC20A2):c.1933A>G (p.Met645Val)
|
|
|
NM_001257180.2(SLC20A2):c.857C>G (p.Pro286Arg)
|
rs781554326
|
|
NM_001258330.1(EPB41L1):c.17G>A (p.Arg6Lys)
|
|
|
NM_001260.3(CDK8):c.1299C>G (p.Asn433Lys)
|
|
|
NM_001260.3(CDK8):c.32G>A (p.Ser11Asn)
|
|
|
NM_001270.4(CHD1):c.2353C>T (p.Arg785Cys)
|
rs781480692
|
|
NM_001270.4(CHD1):c.3547A>G (p.Ser1183Gly)
|
|
|
NM_001270.4(CHD1):c.3571+5C>T
|
rs2112334290
|
|
NM_001270.4(CHD1):c.679A>G (p.Asn227Asp)
|
|
|
NM_001271.4(CHD2):c.2689G>A (p.Ala897Thr)
|
|
|
NM_001271.4(CHD2):c.4074G>T (p.Glu1358Asp)
|
|
|
NM_001271.4(CHD2):c.4964C>T (p.Pro1655Leu)
|
|
|
NM_001273.5(CHD4):c.1075G>A (p.Val359Met)
|
|
|
NM_001273.5(CHD4):c.1573G>A (p.Ala525Thr)
|
|
|
NM_001273.5(CHD4):c.1822A>T (p.Met608Leu)
|
|
|
NM_001273.5(CHD4):c.257C>T (p.Ser86Phe)
|
|
|
NM_001273.5(CHD4):c.3407C>T (p.Ala1136Val)
|
|
|
NM_001273.5(CHD4):c.4612C>T (p.Pro1538Ser)
|
|
|
NM_001273.5(CHD4):c.5432C>T (p.Pro1811Leu)
|
|
|
NM_001276345.2(TNNT2):c.143C>T (p.Thr48Ile)
|
|
|
NM_001276345.2(TNNT2):c.298A>G (p.Ile100Val)
|
|
|
NM_001276345.2(TNNT2):c.408G>C (p.Arg136Ser)
|
rs2102260528
|
|
NM_001276345.2(TNNT2):c.411+7G>C
|
|
|
NM_001276345.2(TNNT2):c.412-200G>C
|
|
|
NM_001276345.2(TNNT2):c.550AAG[2] (p.Lys186del)
|
rs1558225172
|
|
NM_001276345.2(TNNT2):c.571A>G (p.Met191Val)
|
|
|
NM_001276345.2(TNNT2):c.852-3C>A
|
|
|
NM_001277115.2(DNAH11):c.12371T>C (p.Leu4124Ser)
|
|
|
NM_001278116.2(L1CAM):c.3755C>A (p.Pro1252His)
|
rs2148491854
|
|
NM_001278116.2(L1CAM):c.574_582dup (p.Tyr194_Phe195insAsnLeuTyr)
|
rs2148498765
|
|
NM_001281740.3(FHOD3):c.1646+2T>C
|
|
|
NM_001281740.3(FHOD3):c.1970G>A (p.Ser657Asn)
|
rs202238556
|
|
NM_001281740.3(FHOD3):c.3128G>A (p.Ser1043Asn)
|
rs971074535
|
|
NM_001281740.3(FHOD3):c.3218C>G (p.Pro1073Arg)
|
|
|
NM_001281740.3(FHOD3):c.4430A>G (p.Asp1477Gly)
|
|
|
NM_001281740.3(FHOD3):c.80G>C (p.Arg27Pro)
|
|
|
NM_001282531.3(ADNP):c.1009G>A (p.Val337Ile)
|
rs2122758058
|
|
NM_001282531.3(ADNP):c.2077A>G (p.Thr693Ala)
|
|
|
NM_001282531.3(ADNP):c.3110A>C (p.Glu1037Ala)
|
|
|
NM_001282597.3(CTNNA2):c.1057-79639G>A
|
|
|
NM_001286.5(CLCN6):c.1404C>G (p.Phe468Leu)
|
|
|
NM_001286.5(CLCN6):c.769C>A (p.Pro257Thr)
|
rs754881055
|
|
NM_001286577.2(C2CD3):c.6807G>T (p.Leu2269=)
|
|
|
NM_001291303.3(FAT4):c.1219T>C (p.Phe407Leu)
|
|
|
NM_001291303.3(FAT4):c.1489A>G (p.Ile497Val)
|
|
|
NM_001291303.3(FAT4):c.2461G>C (p.Asp821His)
|
|
|
NM_001291415.2(KDM6A):c.1739C>T (p.Thr580Ile)
|
|
|
NM_001291415.2(KDM6A):c.2185C>G (p.Gln729Glu)
|
|
|
NM_001291415.2(KDM6A):c.225+4dup
|
|
|
NM_001291415.2(KDM6A):c.4222G>A (p.Val1408Ile)
|
rs2148305714
|
|
NM_001291415.2(KDM6A):c.660A>T (p.Lys220Asn)
|
rs587778423
|
|
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del)
|
rs753906203
|
|
NM_001292063.2(OTOG):c.641T>C (p.Val214Ala)
|
|
|
NM_001292063.2(OTOG):c.77T>A (p.Leu26Gln)
|
|
|
NM_001303052.2(MYT1L):c.-1+4A>C
|
|
|
NM_001303052.2(MYT1L):c.1035C>G (p.Asn345Lys)
|
|
|
NM_001303052.2(MYT1L):c.405C>G (p.Ile135Met)
|
rs375288670
|
|
NM_001305624.1(CALM2):c.8G>A (p.Arg3His)
|
|
|
NM_001308093.3(GATA4):c.854_856del (p.Arg285_Asn286delinsHis)
|
|
|
NM_001312909.2(FAM111A):c.1408C>T (p.His470Tyr)
|
|
|
NM_001317778.2(SFTPC):c.443C>T (p.Pro148Leu)
|
|
|
NM_001318510.2(ACSL4):c.468G>T (p.Glu156Asp)
|
|
|
NM_001318852.2(MAPK8IP3):c.3226A>G (p.Met1076Val)
|
|
|
NM_001318852.2(MAPK8IP3):c.499C>T (p.Arg167Trp)
|
|
|
NM_001320.7(CSNK2B):c.325T>C (p.Cys109Arg)
|
|
|
NM_001320.7(CSNK2B):c.569T>C (p.Phe190Ser)
|
|
|
NM_001321075.3(DLG4):c.1690C>T (p.Pro564Ser)
|
|
|
NM_001321075.3(DLG4):c.352C>G (p.Leu118Val)
|
|
|
NM_001330260.2(SCN8A):c.1403AAG[1] (p.Glu469del)
|
|
|
NM_001330260.2(SCN8A):c.3113A>G (p.Tyr1038Cys)
|
|
|
NM_001330260.2(SCN8A):c.3577C>T (p.Leu1193Phe)
|
rs2138871696
|
|
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
|
|
|
NM_001330260.2(SCN8A):c.5087T>G (p.Ile1696Ser)
|
|
|
NM_001330311.2(DVL1):c.499C>T (p.Arg167Ter)
|
rs775845636
|
|
NM_001330311.2(DVL1):c.691G>C (p.Ala231Pro)
|
rs2100735835
|
|
NM_001330360.2(POLA1):c.3950G>A (p.Ser1317Asn)
|
|
|
NM_001346754.2(PIGW):c.464G>T (p.Arg155Ile)
|
|
|
NM_001347721.2(DYRK1A):c.1072-6A>G
|
|
|
NM_001347721.2(DYRK1A):c.1561G>A (p.Asp521Asn)
|
rs1440750899
|
|
NM_001347721.2(DYRK1A):c.1615G>T (p.Ala539Ser)
|
|
|
NM_001348323.3(TRIP12):c.4789A>G (p.Ile1597Val)
|
|
|
NM_001348323.3(TRIP12):c.935T>G (p.Val312Gly)
|
|
|
NM_001348716.2(KDM6B):c.1432C>G (p.Arg478Gly)
|
|
|
NM_001348716.2(KDM6B):c.305G>A (p.Arg102Gln)
|
|
|
NM_001348768.2(HECW2):c.1462C>G (p.Leu488Val)
|
|
|
NM_001348768.2(HECW2):c.1772G>A (p.Ser591Asn)
|
|
|
NM_001348768.2(HECW2):c.1979G>A (p.Cys660Tyr)
|
|
|
NM_001348768.2(HECW2):c.3355C>T (p.Arg1119Ter)
|
|
|
NM_001348768.2(HECW2):c.3454C>G (p.Pro1152Ala)
|
|
|
NM_001348768.2(HECW2):c.3998A>G (p.Tyr1333Cys)
|
|
|
NM_001348800.3(ZBTB20):c.942G>T (p.Gln314His)
|
|
|
NM_001349253.2(SCN11A):c.4894A>G (p.Lys1632Glu)
|
|
|
NM_001349338.3(FOXP1):c.1223C>T (p.Thr408Met)
|
|
|
NM_001349338.3(FOXP1):c.1478_1483dup (p.Trp494_Phe495insTyrTrp)
|
|
|
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser)
|
rs1559602593
|
|
NM_001349338.3(FOXP1):c.1652+546dup
|
|
|
NM_001349338.3(FOXP1):c.381G>C (p.Gln127His)
|
|
|
NM_001349999.2(RBFOX2):c.352C>T (p.Gln118Ter)
|
rs2148138686
|
|
NM_001353345.2(SETD1B):c.1196C>A (p.Pro399Gln)
|
|
|
NM_001353345.2(SETD1B):c.20C>T (p.Pro7Leu)
|
rs1052521826
|
|
NM_001353345.2(SETD1B):c.2249C>T (p.Pro750Leu)
|
rs1261222012
|
|
NM_001353345.2(SETD1B):c.2456G>A (p.Gly819Asp)
|
|
|
NM_001353345.2(SETD1B):c.489C>G (p.His163Gln)
|
|
|
NM_001353345.2(SETD1B):c.5008C>T (p.Arg1670Trp)
|
|
|
NM_001354483.2(CSGALNACT1):c.657C>G (p.Asp219Glu)
|
|
|
NM_001355436.2(SPTB):c.6041T>G (p.Phe2014Cys)
|
rs2082214097
|
|
NM_001363118.2(SLC52A2):c.339CTT[1] (p.Phe114del)
|
rs782498327
|
|
NM_001365276.1:c.(?_8144)_(9109_?)del
|
|
|
NM_001365276.2(TNXB):c.5336G>A (p.Gly1779Glu)
|
|
|
NM_001365999.1(SZT2):c.5579G>A (p.Gly1860Asp)
|
rs1654050516
|
|
NM_001366145.2(TRPM3):c.3223+1G>A
|
|
|
NM_001366145.2(TRPM3):c.4493G>C (p.Trp1498Ser)
|
rs2041829797
|
|
NM_001366385.1(CARD14):c.1790G>T (p.Arg597Leu)
|
|
|
NM_001367624.2(ZNF469):c.1829C>T (p.Pro610Leu)
|
|
|
NM_001367721.1(CASK):c.1665G>A (p.Met555Ile)
|
rs2147155700
|
|
NM_001367873.1(SOX6):c.160G>A (p.Glu54Lys)
|
|
|
NM_001368397.1(FRMPD4):c.2182G>C (p.Ala728Pro)
|
rs750615873
|
|
NM_001368809.2(AMPD2):c.2327del (p.Ile776fs)
|
rs1651209606
|
|
NM_001368882.1(COL13A1):c.1026+1G>A
|
rs1480562957
|
|
NM_001368894.2(PAX6):c.183C>G (p.Asn61Lys)
|
|
|
NM_001369.3(DNAH5):c.2283A>C (p.Arg761Ser)
|
|
|
NM_001371395.1(USP53):c.1702G>T (p.Asp568Tyr)
|
|
|
NM_001371395.1(USP53):c.2002G>A (p.Gly668Ser)
|
|
|
NM_001371596.2(MFSD8):c.917T>C (p.Val306Ala)
|
|
|
NM_001371623.1(TCOF1):c.85G>C (p.Glu29Gln)
|
|
|
NM_001371727.1(GABRB2):c.1059G>A (p.Met353Ile)
|
|
|
NM_001371727.1(GABRB2):c.376AAG[1] (p.Lys127del)
|
|
|
NM_001371727.1(GABRB2):c.740T>C (p.Leu247Pro)
|
|
|
NM_001371928.1(AHDC1):c.2956C>T (p.Pro986Ser)
|
|
|
NM_001371928.1(AHDC1):c.3547C>G (p.Arg1183Gly)
|
|
|
NM_001371928.1(AHDC1):c.4316C>T (p.Ala1439Val)
|
|
|
NM_001371986.1(UNC80):c.8513C>G (p.Ser2838Cys)
|
|
|
NM_001372044.2(SHANK3):c.938A>G (p.His313Arg)
|
|
|
NM_001374353.1(GLI2):c.4532C>T (p.Ala1511Val)
|
|
|
NM_001374736.1(DST):c.4930-1094_4930-1092del
|
|
|
NM_001374828.1(ARID1B):c.4510G>A (p.Gly1504Arg)
|
|
|
NM_001374828.1(ARID1B):c.6529C>T (p.His2177Tyr)
|
|
|
NM_001374828.1(ARID1B):c.7030C>T (p.Arg2344Trp)
|
|
|
NM_001375380.1(EBF3):c.554+5G>A
|
rs2134610433
|
|
NM_001375524.1(TRRAP):c.10051C>T (p.Leu3351Phe)
|
rs2116814869
|
|
NM_001375524.1(TRRAP):c.10915C>T (p.Arg3639Trp)
|
|
|
NM_001375524.1(TRRAP):c.11085C>A (p.Phe3695Leu)
|
|
|
NM_001375524.1(TRRAP):c.11591G>A (p.Arg3864His)
|
|
|
NM_001375524.1(TRRAP):c.2875T>G (p.Tyr959Asp)
|
rs1789990592
|
|
NM_001375524.1(TRRAP):c.3670G>A (p.Glu1224Lys)
|
|
|
NM_001375524.1(TRRAP):c.5937+2T>C
|
|
|
NM_001375524.1(TRRAP):c.5983G>A (p.Ala1995Thr)
|
|
|
NM_001375524.1(TRRAP):c.7635G>C (p.Met2545Ile)
|
|
|
NM_001375524.1(TRRAP):c.9023-3T>C
|
|
|
NM_001375765.1(GIGYF1):c.2801C>T (p.Pro934Leu)
|
rs2131367497
|
|
NM_001376.5(DYNC1H1):c.2973G>A (p.Met991Ile)
|
|
|
NM_001376.5(DYNC1H1):c.4501A>C (p.Ile1501Leu)
|
|
|
NM_001376.5(DYNC1H1):c.5597T>A (p.Phe1866Tyr)
|
rs2141289673
|
|
NM_001376.5(DYNC1H1):c.7213G>A (p.Gly2405Arg)
|
rs2152581608
|
|
NM_001376256.1(CRYM):c.29C>G (p.Ala10Gly)
|
|
|
NM_001376571.1(MADD):c.2090C>T (p.Pro697Leu)
|
|
|
NM_001377.3(DYNC2H1):c.5357G>C (p.Gly1786Ala)
|
rs2134975573
|
|
NM_001377137.1(GBF1):c.5501C>T (p.Ala1834Val)
|
rs770517190
|
|
NM_001378120.1(MBD5):c.1017TCC[1] (p.Pro342del)
|
rs1388983985
|
|
NM_001378120.1(MBD5):c.278A>G (p.Asp93Gly)
|
|
|
NM_001378120.1(MBD5):c.3800C>T (p.Thr1267Ile)
|
rs1681444814
|
|
NM_001378120.1(MBD5):c.4031C>T (p.Thr1344Ile)
|
|
|
NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu)
|
rs1064797002
|
|
NM_001378418.1(TCF20):c.137G>T (p.Gly46Val)
|
|
|
NM_001378418.1(TCF20):c.2230G>A (p.Gly744Ser)
|
|
|
NM_001378418.1(TCF20):c.2777G>T (p.Gly926Val)
|
rs2147209717
|
|
NM_001378454.1(ALMS1):c.10853G>A (p.Gly3618Asp)
|
|
|
NM_001378454.1(ALMS1):c.12363-5C>G
|
rs774448248
|
|
NM_001378454.1(ALMS1):c.8471C>G (p.Pro2824Arg)
|
|
|
NM_001378457.1(DMXL2):c.3385G>A (p.Val1129Ile)
|
rs2043456849
|
|
NM_001378615.1(CC2D2A):c.438+1G>T
|
rs1453265480
|
|
NM_001378964.1(CDON):c.2997del (p.Lys999fs)
|
rs781775355
|
|
NM_001378964.1(CDON):c.640+1G>A
|
|
|
NM_001379200.1(TBX1):c.962T>C (p.Leu321Pro)
|
rs2145836969
|
|
NM_001379291.1(BRD4):c.2135C>T (p.Ser712Phe)
|
rs768842514
|
|
NM_001379451.1(BCORL1):c.1508C>T (p.Pro503Leu)
|
|
|
NM_001379451.1(BCORL1):c.2018G>T (p.Gly673Val)
|
|
|
NM_001379451.1(BCORL1):c.2314C>T (p.Gln772Ter)
|
|
|
NM_001379451.1(BCORL1):c.4274A>G (p.Lys1425Arg)
|
rs2124502701
|
|
NM_001382273.1(TNK2):c.3022C>T (p.Gln1008Ter)
|
|
|
NM_001382430.1(AKT1):c.288-4G>T
|
rs778501455
|
|
NM_001384125.1(BLTP1):c.10741-5T>C
|
|
|
NM_001384125.1(BLTP1):c.13411T>A (p.Ser4471Thr)
|
|
|
NM_001384125.1(BLTP1):c.14230A>G (p.Met4744Val)
|
|
|
NM_001384125.1(BLTP1):c.9222T>G (p.Asp3074Glu)
|
|
|
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup)
|
rs759237437
|
|
NM_001384910.1(GUCA1A):c.123G>C (p.Gln41His)
|
rs2113833431
|
|
NM_001385012.1(NBEA):c.358T>A (p.Cys120Ser)
|
|
|
NM_001385012.1(NBEA):c.4367T>C (p.Ile1456Thr)
|
|
|
NM_001385012.1(NBEA):c.6304+5G>T
|
rs2152930968
|
|
NM_001385012.1(NBEA):c.7502T>C (p.Ile2501Thr)
|
rs1174437634
|
|
NM_001385012.1(NBEA):c.7568A>T (p.Tyr2523Phe)
|
|
|
NM_001385012.1(NBEA):c.8657C>T (p.Thr2886Ile)
|
|
|
NM_001386298.1(CIC):c.1216C>T (p.Pro406Ser)
|
|
|
NM_001386298.1(CIC):c.226C>A (p.Pro76Thr)
|
|
|
NM_001386298.1(CIC):c.5323C>T (p.Leu1775Phe)
|
|
|
NM_001386298.1(CIC):c.793G>A (p.Val265Met)
|
|
|
NM_001393769.1(MED12L):c.3541C>G (p.Gln1181Glu)
|
|
|
NM_001394372.1(BICRA):c.3799T>A (p.Ser1267Thr)
|
|
|
NM_001394998.1(TANC2):c.2767T>C (p.Ser923Pro)
|
rs757337752
|
|
NM_001394998.1(TANC2):c.5519G>A (p.Ser1840Asn)
|
rs2147427904
|
|
NM_001396959.1(TBC1D1):c.1418C>T (p.Ser473Leu)
|
rs540156102
|
|
NM_001429.4(EP300):c.1760+6_1760+9del
|
rs2145722830
|
|
NM_001429.4(EP300):c.1985C>A (p.Ala662Glu)
|
rs1339311567
|
|
NM_001429.4(EP300):c.3838G>T (p.Ala1280Ser)
|
rs2059136013
|
|
NM_001429.4(EP300):c.4438G>A (p.Val1480Ile)
|
|
|
NM_001448.3(GPC4):c.1425GAA[1] (p.Lys476del)
|
|
|
NM_001458.5(FLNC):c.233G>A (p.Ser78Asn)
|
rs2128932201
|
|
NM_001458.5(FLNC):c.3193-2_3201del
|
|
|
NM_001458.5(FLNC):c.3548C>T (p.Ala1183Val)
|
|
|
NM_001458.5(FLNC):c.4969C>G (p.Arg1657Gly)
|
rs1563000044
|
|
NM_001458.5(FLNC):c.5194G>A (p.Val1732Met)
|
rs374848954
|
|
NM_001458.5(FLNC):c.5969_5983del (p.Pro1990_Lys1994del)
|
|
|
NM_001458.5(FLNC):c.6208+8C>G
|
|
|
NM_001458.5(FLNC):c.6239G>A (p.Gly2080Asp)
|
rs2128939083
|
|
NM_001458.5(FLNC):c.699+1G>C
|
rs1562991776
|
|
NM_001458.5(FLNC):c.699+4C>T
|
|
|
NM_001458.5(FLNC):c.7414G>A (p.Glu2472Lys)
|
rs948675422
|
|
NM_001458.5(FLNC):c.7909A>C (p.Lys2637Gln)
|
rs767794768
|
|
NM_001614.5(ACTG1):c.520G>A (p.Ala174Thr)
|
rs587780274
|
|
NM_001655.5(ARCN1):c.440T>C (p.Val147Ala)
|
|
|
NM_001711.6(BGN):c.518A>G (p.Lys173Arg)
|
|
|
NM_001759.4(CCND2):c.559C>G (p.Leu187Val)
|
|
|
NM_001761.3(CCNF):c.481G>A (p.Gly161Arg)
|
|
|
NM_001813.3(CENPE):c.6817G>A (p.Glu2273Lys)
|
|
|
NM_001830.4(CLCN4):c.914T>C (p.Leu305Pro)
|
|
|
NM_001845.6(COL4A1):c.3934G>A (p.Val1312Ile)
|
|
|
NM_001845.6(COL4A1):c.4777G>A (p.Gly1593Ser)
|
|
|
NM_001845.6(COL4A1):c.478G>A (p.Gly160Ser)
|
rs2139202625
|
|
NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys)
|
rs1555300086
|
|
NM_001845.6(COL4A1):c.94G>A (p.Ala32Thr)
|
rs2139245837
|
|
NM_001846.4(COL4A2):c.1453_1469del (p.Cys485fs)
|
|
|
NM_001846.4(COL4A2):c.4448G>A (p.Gly1483Asp)
|
|
|
NM_001851.6(COL9A1):c.2260G>C (p.Gly754Arg)
|
|
|
NM_001851.6(COL9A1):c.2284A>G (p.Ile762Val)
|
rs2127559477
|
|
NM_001875.5(CPS1):c.1328A>C (p.Tyr443Ser)
|
|
|
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)
|
rs761921978
|
|
NM_001875.5(CPS1):c.4463T>C (p.Leu1488Pro)
|
|
|
NM_001904.4(CTNNB1):c.1406G>A (p.Arg469His)
|
|
|
NM_001904.4(CTNNB1):c.1658T>C (p.Met553Thr)
|
rs1328515384
|
|
NM_001904.4(CTNNB1):c.1995C>G (p.Asp665Glu)
|
rs77750814
|
|
NM_001904.4(CTNNB1):c.2181T>G (p.Asp727Glu)
|
|
|
NM_001923.5(DDB1):c.2578A>G (p.Thr860Ala)
|
rs757118401
|
|
NM_001953.5(TYMP):c.1109A>T (p.Gln370Leu)
|
rs1276418601
|
|
NM_001953.5(TYMP):c.1444C>T (p.Gln482Ter)
|
|
|
NM_001953.5(TYMP):c.695T>C (p.Val232Ala)
|
rs1294823677
|
|
NM_001961.4(EEF2):c.1359G>A (p.Met453Ile)
|
rs2145360047
|
|
NM_001961.4(EEF2):c.463C>A (p.Leu155Met)
|
|
|
NM_001987.5(ETV6):c.1152+6del
|
rs2136596612
|
|
NM_001999.4(FBN2):c.2791C>T (p.Pro931Ser)
|
rs779579749
|
|
NM_001999.4(FBN2):c.2940C>A (p.Cys980Ter)
|
|
|
NM_001999.4(FBN2):c.4157A>C (p.Asn1386Thr)
|
|
|
NM_001999.4(FBN2):c.489C>G (p.His163Gln)
|
rs2112798145
|
|
NM_001999.4(FBN2):c.7030A>T (p.Thr2344Ser)
|
|
|
NM_001999.4(FBN2):c.8143G>T (p.Gly2715Trp)
|
rs772569905
|
|
NM_002016.2(FLG):c.8307G>C (p.Gln2769His)
|
|
|
NM_002055.5(GFAP):c.1030C>G (p.Arg344Gly)
|
|
|
NM_002055.5(GFAP):c.371G>A (p.Arg124Gln)
|
|
|
NM_002055.5(GFAP):c.476C>T (p.Thr159Ile)
|
|
|
NM_002069.6(GNAI1):c.869A>T (p.Tyr290Phe)
|
rs2115713066
|
|
NM_002160.4(TNC):c.2434A>G (p.Lys812Glu)
|
|
|
NM_002161.6(IARS1):c.2806G>A (p.Glu936Lys)
|
|
|
NM_002161.6(IARS1):c.3563T>C (p.Met1188Thr)
|
|
|
NM_002234.4(KCNA5):c.646G>C (p.Asp216His)
|
|
|
NM_002340.6(LSS):c.2149_2161del (p.Gly717fs)
|
|
|
NM_002430.3(MN1):c.3665A>T (p.Glu1222Val)
|
|
|
NM_002471.4(MYH6):c.343T>C (p.Tyr115His)
|
|
|
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys)
|
rs201989347
|
|
NM_002471.4(MYH6):c.5407G>A (p.Glu1803Lys)
|
|
|
NM_002471.4(MYH6):c.5555T>C (p.Leu1852Pro)
|
rs2138581208
|
|
NM_002472.3(MYH8):c.2172-4G>T
|
|
|
NM_002473.6(MYH9):c.2920A>C (p.Lys974Gln)
|
|
|
NM_002473.6(MYH9):c.2965A>C (p.Lys989Gln)
|
|
|
NM_002473.6(MYH9):c.3277G>A (p.Glu1093Lys)
|
rs2146338775
|
|
NM_002473.6(MYH9):c.4258C>G (p.Gln1420Glu)
|
|
|
NM_002473.6(MYH9):c.5657C>T (p.Ala1886Val)
|
|
|
NM_002473.6(MYH9):c.5788G>T (p.Val1930Leu)
|
rs142565774
|
|
NM_002474.3(MYH11):c.404C>T (p.Ser135Leu)
|
rs760445629
|
|
NM_002480.3(PPP1R12A):c.2166A>T (p.Gln722His)
|
|
|
NM_002480.3(PPP1R12A):c.731AAG[2] (p.Glu246del)
|
|
|
NM_002496.4(NDUFS8):c.325G>A (p.Glu109Lys)
|
|
|
NM_002539.3(ODC1):c.912T>G (p.Asp304Glu)
|
rs139046118
|
|
NM_002578.5(PAK3):c.1004G>A (p.Gly335Asp)
|
rs1249190198
|
|
NM_002585.4(PBX1):c.331A>G (p.Met111Val)
|
|
|
NM_002608.4(PDGFB):c.70C>A (p.Pro24Thr)
|
|
|
NM_002637.4(PHKA1):c.2558A>T (p.His853Leu)
|
|
|
NM_002641.4(PIGA):c.1087A>G (p.Ile363Val)
|
|
|
NM_002641.4(PIGA):c.98A>G (p.His33Arg)
|
rs797044924
|
|
NM_002653.5(PITX1):c.934T>C (p.Tyr312His)
|
|
|
NM_002693.3(POLG):c.3637C>T (p.Pro1213Ser)
|
rs2055307106
|
|
NM_002700.3(POU4F3):c.745C>A (p.Gln249Lys)
|
rs1465371108
|
|
NM_002739.5(PRKCG):c.475G>A (p.Gly159Arg)
|
rs866406014
|
|
NM_002742.3(PRKD1):c.1874G>T (p.Ser625Ile)
|
|
|
NM_002742.3(PRKD1):c.815C>T (p.Thr272Ile)
|
|
|
NM_002745.5(MAPK1):c.155C>A (p.Ala52Asp)
|
rs2145705712
|
|
NM_002764.4(PRPS1):c.733T>C (p.Tyr245His)
|
|
|
NM_002834.5(PTPN11):c.1205A>C (p.Lys402Thr)
|
|
|
NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu)
|
rs397507536
|
|
NM_002875.5(RAD51):c.340C>G (p.Gln114Glu)
|
|
|
NM_002880.4(RAF1):c.1201C>T (p.Arg401Trp)
|
|
|
NM_002880.4(RAF1):c.545C>T (p.Thr182Ile)
|
|
|
NM_002880.4(RAF1):c.582-8T>G
|
|
|
NM_002905.5(RDH5):c.608T>A (p.Val203Glu)
|
|
|
NM_002968.3(SALL1):c.2846A>G (p.Gln949Arg)
|
rs889576974
|
|
NM_002968.3(SALL1):c.3322G>T (p.Val1108Phe)
|
rs148931484
|
|
NM_002971.6(SATB1):c.301G>A (p.Val101Met)
|
|
|
NM_002972.4(SBF1):c.2948T>C (p.Leu983Pro)
|
|
|
NM_003024.3(ITSN1):c.2122C>G (p.Leu708Val)
|
|
|
NM_003036.4(SKI):c.1138C>T (p.Arg380Ter)
|
|
|
NM_003054.6(SLC18A2):c.1196A>C (p.Asp399Ala)
|
|
|
NM_003070.5(SMARCA2):c.2914G>C (p.Ala972Pro)
|
rs2130525728
|
|
NM_003070.5(SMARCA2):c.800C>G (p.Pro267Arg)
|
|
|
NM_003072.5(SMARCA4):c.1693A>G (p.Thr565Ala)
|
rs765974121
|
|
NM_003072.5(SMARCA4):c.2029G>A (p.Ala677Thr)
|
rs2088396631
|
|
NM_003072.5(SMARCA4):c.557C>G (p.Ala186Gly)
|
|
|
NM_003073.5(SMARCB1):c.868C>T (p.Pro290Ser)
|
|
|
NM_003076.5(SMARCD1):c.107C>T (p.Pro36Leu)
|
|
|
NM_003104.6(SORD):c.73_88del (p.Tyr25fs)
|
|
|
NM_003108.4(SOX11):c.724G>C (p.Glu242Gln)
|
|
|
NM_003184.4(TAF2):c.1152A>C (p.Lys384Asn)
|
|
|
NM_003184.4(TAF2):c.938A>T (p.Tyr313Phe)
|
|
|
NM_003193.5(TBCE):c.1410_1434dup (p.Ser479fs)
|
|
|
NM_003244.4(TGIF1):c.16+1578C>A
|
|
|
NM_003285.3(TNR):c.1267T>C (p.Phe423Leu)
|
|
|
NM_003285.3(TNR):c.2324G>A (p.Arg775His)
|
|
|
NM_003336.4(UBE2A):c.39C>A (p.Phe13Leu)
|
|
|
NM_003359.4(UGDH):c.311C>T (p.Ala104Val)
|
rs1420419492
|
|
NM_003361.4(UMOD):c.115G>C (p.Ala39Pro)
|
rs1245943973
|
|
NM_003361.4(UMOD):c.1189G>A (p.Glu397Lys)
|
|
|
NM_003361.4(UMOD):c.544G>A (p.Glu182Lys)
|
|
|
NM_003380.5(VIM):c.46G>A (p.Gly16Ser)
|
rs773471865
|
|
NM_003413.4(ZIC3):c.1292C>T (p.Pro431Leu)
|
|
|
NM_003413.4(ZIC3):c.971_972delinsAA (p.Gly324Glu)
|
|
|
NM_003482.4(KMT2D):c.10942C>A (p.Pro3648Thr)
|
rs777215324
|
|
NM_003482.4(KMT2D):c.11605T>A (p.Ser3869Thr)
|
|
|
NM_003482.4(KMT2D):c.12637C>T (p.His4213Tyr)
|
rs1942946917
|
|
NM_003482.4(KMT2D):c.370C>T (p.Leu124Phe)
|
|
|
NM_003482.4(KMT2D):c.4877T>C (p.Leu1626Ser)
|
|
|
NM_003482.4(KMT2D):c.7778C>A (p.Pro2593His)
|
|
|
NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys)
|
|
|
NM_003482.4(KMT2D):c.8699C>T (p.Pro2900Leu)
|
|
|
NM_003482.4(KMT2D):c.9791A>G (p.Gln3264Arg)
|
|
|
NM_003560.4(PLA2G6):c.562A>G (p.Thr188Ala)
|
|
|
NM_003573.2(LTBP4):c.76-2A>G
|
|
|
NM_003587.5(DHX16):c.468_469del (p.Lys157fs)
|
|
|
NM_003588.4(CUL4B):c.29A>C (p.Asp10Ala)
|
rs2147360370
|
|
NM_003590.5(CUL3):c.2092G>A (p.Asp698Asn)
|
|
|
NM_003718.5(CDK13):c.1768A>G (p.Ser590Gly)
|
|
|
NM_003718.5(CDK13):c.3261A>T (p.Leu1087Phe)
|
rs2150547167
|
|
NM_003718.5(CDK13):c.3686C>T (p.Ser1229Leu)
|
|
|
NM_003718.5(CDK13):c.484dup (p.Ala162fs)
|
rs1405252481
|
|
NM_003803.4(MYOM1):c.3881T>C (p.Ile1294Thr)
|
|
|
NM_003803.4(MYOM1):c.4920C>G (p.Asp1640Glu)
|
|
|
NM_003922.4(HERC1):c.6314C>G (p.Thr2105Ser)
|
|
|
NM_003922.4(HERC1):c.9134C>T (p.Ala3045Val)
|
|
|
NM_003998.4(NFKB1):c.731A>G (p.Lys244Arg)
|
rs2149187183
|
|
NM_004006.3(DMD):c.3607G>A (p.Ala1203Thr)
|
rs1569562950
|
|
NM_004006.3(DMD):c.4180G>T (p.Ala1394Ser)
|
|
|
NM_004006.3(DMD):c.4832T>A (p.Val1611Asp)
|
rs2147469937
|
|
NM_004006.3(DMD):c.5386C>A (p.Pro1796Thr)
|
|
|
NM_004006.3(DMD):c.5582T>C (p.Leu1861Pro)
|
rs2147030312
|
|
NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln)
|
rs1556320083
|
|
NM_004092.4(ECHS1):c.299T>C (p.Ile100Thr)
|
|
|
NM_004136.4(IREB2):c.1329_1331del (p.Ser444del)
|
rs1596009225
|
|
NM_004136.4(IREB2):c.2353G>A (p.Gly785Arg)
|
rs1596016998
|
|
NM_004172.5(SLC1A3):c.299T>C (p.Ile100Thr)
|
|
|
NM_004187.5(KDM5C):c.189C>A (p.Phe63Leu)
|
|
|
NM_004187.5(KDM5C):c.359T>C (p.Val120Ala)
|
rs2146951019
|
|
NM_004187.5(KDM5C):c.3961C>A (p.Pro1321Thr)
|
|
|
NM_004187.5(KDM5C):c.917C>T (p.Thr306Ile)
|
|
|
NM_004208.4(AIFM1):c.649C>G (p.Leu217Val)
|
|
|
NM_004218.4(RAB11B):c.491C>G (p.Ala164Gly)
|
|
|
NM_004237.4(TRIP13):c.1016T>C (p.Met339Thr)
|
|
|
NM_004237.4(TRIP13):c.759+1G>T
|
|
|
NM_004247.4(EFTUD2):c.1033G>A (p.Gly345Ser)
|
|
|
NM_004247.4(EFTUD2):c.1585C>T (p.Arg529Cys)
|
rs376157050
|
|
NM_004260.4(RECQL4):c.488C>G (p.Pro163Arg)
|
|
|
NM_004279.3(PMPCB):c.122G>A (p.Arg41Lys)
|
|
|
NM_004333.6(BRAF):c.160A>G (p.Ile54Val)
|
|
|
NM_004333.6(BRAF):c.1714A>G (p.Ile572Val)
|
rs755214031
|
|
NM_004341.5(CAD):c.4231A>G (p.Lys1411Glu)
|
|
|
NM_004341.5(CAD):c.5104C>T (p.Pro1702Ser)
|
rs529298259
|
|
NM_004360.5(CDH1):c.1320G>A (p.Lys440=)
|
|
|
NM_004369.4(COL6A3):c.4129G>T (p.Glu1377Ter)
|
|
|
NM_004369.4(COL6A3):c.4532G>C (p.Gly1511Ala)
|
|
|
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
|
|
|
NM_004380.3(CREBBP):c.3163G>T (p.Val1055Leu)
|
|
|
NM_004380.3(CREBBP):c.3749C>A (p.Thr1250Asn)
|
|
|
NM_004380.3(CREBBP):c.5804C>T (p.Thr1935Ile)
|
rs2151308115
|
|
NM_004380.3(CREBBP):c.6557A>T (p.Asn2186Ile)
|
rs1358192617
|
|
NM_004385.5(VCAN):c.2381G>C (p.Ser794Thr)
|
rs2112409816
|
|
NM_004393.6(DAG1):c.2503_2504del (p.Ser835fs)
|
rs2107957043
|
|
NM_004393.6(DAG1):c.568G>C (p.Val190Leu)
|
|
|
NM_004397.6(DDX6):c.1394A>T (p.Asp465Val)
|
rs2137411793
|
|
NM_004408.4(DNM1):c.2510A>C (p.Asn837Thr)
|
|
|
NM_004431.5(EPHA2):c.1886A>G (p.Lys629Arg)
|
|
|
NM_004434.3(EML1):c.2272G>A (p.Asp758Asn)
|
|
|
NM_004434.3(EML1):c.941A>G (p.Asn314Ser)
|
|
|
NM_004444.5(EPHB4):c.1362G>C (p.Trp454Cys)
|
rs2116447376
|
|
NM_004444.5(EPHB4):c.853T>C (p.Cys285Arg)
|
|
|
NM_004444.5(EPHB4):c.964+3A>T
|
|
|
NM_004446.3(EPRS1):c.2747G>A (p.Arg916Gln)
|
rs761131320
|
|
NM_004446.3(EPRS1):c.3404A>C (p.Gln1135Pro)
|
|
|
NM_004456.5(EZH2):c.532C>G (p.Leu178Val)
|
|
|
NM_004462.5(FDFT1):c.100-101G>A
|
|
|
NM_004463.3(FGD1):c.2282G>A (p.Cys761Tyr)
|
rs2147422996
|
|
NM_004484.4(GPC3):c.695C>A (p.Ala232Asp)
|
rs1206002281
|
|
NM_004522.3(KIF5C):c.2640G>C (p.Glu880Asp)
|
|
|
NM_004523.4(KIF11):c.1559A>G (p.Lys520Arg)
|
rs2135916166
|
|
NM_004544.4(NDUFA10):c.1000-12427TCCCTCCTTGAAGCTGATCGT[2]
|
|
|
NM_004562.3(PRKN):c.488G>A (p.Arg163Lys)
|
|
|
NM_004589.4(SCO1):c.220C>T (p.Pro74Ser)
|
|
|
NM_004606.5(TAF1):c.4108-5C>T
|
rs2148485195
|
|
NM_004606.5(TAF1):c.892G>A (p.Ala298Thr)
|
rs1602463196
|
|
NM_004612.4(TGFBR1):c.1442C>T (p.Ala481Val)
|
|
|
NM_004612.4(TGFBR1):c.569G>T (p.Gly190Val)
|
rs2118632040
|
|
NM_004612.4(TGFBR1):c.98-1G>A
|
|
|
NM_004618.5(TOP3A):c.2228C>G (p.Thr743Ser)
|
|
|
NM_004629.2(FANCG):c.1070C>T (p.Thr357Met)
|
|
|
NM_004646.4(NPHS1):c.162_176del (p.Val55_Gly59del)
|
|
|
NM_004646.4(NPHS1):c.2072-6C>G
|
rs200253809
|
|
NM_004646.4(NPHS1):c.3058G>A (p.Gly1020Arg)
|
|
|
NM_004646.4(NPHS1):c.791C>A (p.Pro264Gln)
|
rs34982899
|
|
NM_004667.6(HERC2):c.599C>T (p.Ala200Val)
|
|
|
NM_004667.6(HERC2):c.9113A>G (p.Gln3038Arg)
|
|
|
NM_004700.4(KCNQ4):c.670T>C (p.Trp224Arg)
|
|
|
NM_004715.5(CTDP1):c.1915A>G (p.Ile639Val)
|
|
|
NM_004722.4(AP4M1):c.589_603dup (p.Ser201_Asn202insValLeuIleAlaSer)
|
|
|
NM_004758.4(TSPOAP1):c.1942G>T (p.Gly648Cys)
|
rs2143077017
|
|
NM_004793.4(LONP1):c.1913C>T (p.Thr638Met)
|
rs757666530
|
|
NM_004813.4(PEX16):c.714G>C (p.Trp238Cys)
|
|
|
NM_004817.4(TJP2):c.2667+3A>G
|
|
|
NM_004830.4(MED23):c.2998C>A (p.Arg1000Ser)
|
rs866726564
|
|
NM_004859.4(CLTC):c.2590G>A (p.Ala864Thr)
|
|
|
NM_004859.4(CLTC):c.4605+3T>A
|
|
|
NM_004924.6(ACTN4):c.770T>G (p.Ile257Arg)
|
|
|
NM_004928.3(CFAP410):c.331_342dup (p.Thr114_Leu115insValLeuArgThr)
|
|
|
NM_004958.4(MTOR):c.1060T>A (p.Ser354Thr)
|
|
|
NM_004958.4(MTOR):c.1951G>C (p.Val651Leu)
|
|
|
NM_004958.4(MTOR):c.5062C>T (p.Pro1688Ser)
|
rs2100477232
|
|
NM_004958.4(MTOR):c.7253T>C (p.Leu2418Pro)
|
|
|
NM_004958.4(MTOR):c.7534G>C (p.Asp2512His)
|
|
|
NM_004974.4(KCNA2):c.329C>T (p.Ser110Phe)
|
rs1649507829
|
|
NM_004975.4(KCNB1):c.1801G>A (p.Ala601Thr)
|
|
|
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser)
|
rs1984257387
|
|
NM_004984.4(KIF5A):c.2175G>C (p.Gln725His)
|
|
|
NM_004991.4(MECOM):c.2577+4A>T
|
|
|
NM_004991.4(MECOM):c.2873_2875del (p.Phe958_Ser959delinsCys)
|
rs2148891166
|
|
NM_004991.4(MECOM):c.2889C>G (p.Asn963Lys)
|
|
|
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu)
|
rs35263902
|
|
NM_005002.5(NDUFA9):c.50G>T (p.Arg17Leu)
|
|
|
NM_005006.7(NDUFS1):c.134C>A (p.Pro45Gln)
|
|
|
NM_005032.7(PLS3):c.347G>A (p.Gly116Glu)
|
rs2147533013
|
|
NM_005052.3(RAC3):c.179G>A (p.Gly60Asp)
|
|
|
NM_005085.4(NUP214):c.929T>C (p.Ile310Thr)
|
|
|
NM_005120.3(MED12):c.272G>A (p.Arg91His)
|
rs1057524478
|
|
NM_005120.3(MED12):c.4492G>A (p.Gly1498Arg)
|
rs2147817009
|
|
NM_005121.3(MED13):c.3583C>A (p.Gln1195Lys)
|
|
|
NM_005159.5(ACTC1):c.509G>A (p.Gly170Asp)
|
|
|
NM_005159.5(ACTC1):c.967G>T (p.Ala323Ser)
|
rs771011464
|
|
NM_005188.4(CBL):c.1135C>A (p.Gln379Lys)
|
rs2135303660
|
|
NM_005245.4(FAT1):c.10486G>A (p.Val3496Ile)
|
rs1436843901
|
|
NM_005245.4(FAT1):c.3011A>G (p.Lys1004Arg)
|
rs2126683307
|
|
NM_005247.4(FGF3):c.325-2A>G
|
|
|
NM_005257.6(GATA6):c.1300G>C (p.Val434Leu)
|
|
|
NM_005257.6(GATA6):c.1342C>T (p.His448Tyr)
|
|
|
NM_005260.7(GDF9):c.604C>T (p.Gln202Ter)
|
|
|
NM_005262.3(GFER):c.258+1G>A
|
|
|
NM_005273.4(GNB2):c.784C>T (p.Leu262Phe)
|
|
|
NM_005334.3(HCFC1):c.1583C>T (p.Pro528Leu)
|
rs2148586729
|
|
NM_005359.6(SMAD4):c.293T>G (p.Leu98Arg)
|
|
|
NM_005360.5(MAF):c.712G>T (p.Gly238Cys)
|
|
|
NM_005378.6(MYCN):c.-84G>T
|
|
|
NM_005378.6(MYCN):c.1060G>T (p.Ala354Ser)
|
|
|
NM_005422.4(TECTA):c.1796G>C (p.Ser599Thr)
|
rs762612501
|
|
NM_005445.4(SMC3):c.2653A>C (p.Asn885His)
|
|
|
NM_005458.8(GABBR2):c.1987T>G (p.Tyr663Asp)
|
|
|
NM_005491.5(MAMLD1):c.*159T>C
|
|
|
NM_005515.4(MNX1):c.852G>A (p.Gln284=)
|
|
|
NM_005518.4(HMGCS2):c.1092C>G (p.Phe364Leu)
|
|
|
NM_005543.4(INSL3):c.191G>T (p.Arg64Leu)
|
|
|
NM_005554.4(KRT6A):c.817-2A>G
|
|
|
NM_005559.4(LAMA1):c.4024G>C (p.Val1342Leu)
|
rs2144110328
|
|
NM_005559.4(LAMA1):c.7603G>A (p.Gly2535Ser)
|
|
|
NM_005559.4(LAMA1):c.9160T>C (p.Phe3054Leu)
|
|
|
NM_005585.5(SMAD6):c.262G>T (p.Gly88Cys)
|
rs887913905
|
|
NM_005585.5(SMAD6):c.802C>T (p.Arg268Trp)
|
|
|
NM_005609.4(PYGM):c.1264G>A (p.Asp422Asn)
|
|
|
NM_005618.4(DLL1):c.614G>C (p.Gly205Ala)
|
|
|
NM_005633.4(SOS1):c.1393_1394delinsTT (p.Asp465Phe)
|
|
|
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys)
|
rs1553353452
|
|
NM_005634.3(SOX3):c.253A>C (p.Lys85Gln)
|
|
|
NM_005654.6(NR2F1):c.344G>T (p.Arg115Leu)
|
|
|
NM_005654.6(NR2F1):c.49G>C (p.Gly17Arg)
|
|
|
NM_005708.5(GPC6):c.1228G>A (p.Glu410Lys)
|
|
|
NM_005751.5(AKAP9):c.10979T>G (p.Leu3660Trp)
|
rs1263587542
|
|
NM_005765.3(ATP6AP2):c.1028C>G (p.Thr343Arg)
|
rs2146547270
|
|
NM_005765.3(ATP6AP2):c.275G>A (p.Ser92Asn)
|
rs1450455949
|
|
NM_005787.6(ALG3):c.503T>C (p.Phe168Ser)
|
|
|
NM_005802.5(TOPORS):c.2866G>C (p.Glu956Gln)
|
|
|
NM_005862.3(STAG1):c.2547G>C (p.Glu849Asp)
|
|
|
NM_005883.3(APC2):c.322_323inv (p.Ser108Leu)
|
|
|
NM_005883.3(APC2):c.4531G>A (p.Gly1511Ser)
|
|
|
NM_005901.6(SMAD2):c.1384C>T (p.Arg462Cys)
|
rs2144276135
|
|
NM_005902.4(SMAD3):c.1180T>C (p.Cys394Arg)
|
|
|
NM_005902.4(SMAD3):c.207-26806G>T
|
|
|
NM_005909.5(MAP1B):c.3967C>T (p.Pro1323Ser)
|
rs2112238960
|
|
NM_005909.5(MAP1B):c.6169_6171delinsAAG (p.Tyr2057Lys)
|
rs2111892866
|
|
NM_005957.5(MTHFR):c.1796A>G (p.Tyr599Cys)
|
rs2100495013
|
|
NM_005993.5(TBCD):c.10A>T (p.Ser4Cys)
|
|
|
NM_005993.5(TBCD):c.1399G>A (p.Ala467Thr)
|
rs1567926154
|
|
NM_005993.5(TBCD):c.2560G>A (p.Gly854Ser)
|
|
|
NM_005993.5(TBCD):c.3194A>G (p.His1065Arg)
|
rs2062710087
|
|
NM_006009.4(TUBA1A):c.889G>A (p.Glu297Lys)
|
|
|
NM_006015.6(ARID1A):c.1350+1G>T
|
|
|
NM_006073.4(TRDN):c.1048A>G (p.Lys350Glu)
|
|
|
NM_006073.4(TRDN):c.2146T>C (p.Ser716Pro)
|
|
|
NM_006079.5(CITED2):c.119AGC[3] (p.Gln43del)
|
|
|
NM_006121.4(KRT1):c.1318G>A (p.Ala440Thr)
|
|
|
NM_006121.4(KRT1):c.48_49insAC (p.Phe17fs)
|
|
|
NM_006160.4(NEUROD2):c.355T>C (p.Ser119Pro)
|
|
|
NM_006160.4(NEUROD2):c.517C>A (p.Leu173Ile)
|
|
|
NM_006178.4(NSF):c.1590_1592dup (p.Ser531_Asp532insSer)
|
rs2146261671
|
|
NM_006180.6(NTRK2):c.1438G>A (p.Gly480Ser)
|
|
|
NM_006218.4(PIK3CA):c.2137A>G (p.Ile713Val)
|
|
|
NM_006218.4(PIK3CA):c.2T>C (p.Met1Thr)
|
|
|
NM_006231.4(POLE):c.2666C>G (p.Thr889Ser)
|
|
|
NM_006267.5(RANBP2):c.3766C>G (p.Pro1256Ala)
|
|
|
NM_006270.5(RRAS):c.43C>T (p.Arg15Trp)
|
|
|
NM_006280.3(SSR4):c.429C>A (p.Asn143Lys)
|
|
|
NM_006280.3(SSR4):c.482A>G (p.Tyr161Cys)
|
|
|
NM_006302.3(MOGS):c.1225G>A (p.Gly409Arg)
|
|
|
NM_006306.4(SMC1A):c.1118A>G (p.Lys373Arg)
|
rs2146604633
|
|
NM_006314.3(CNKSR1):c.503G>T (p.Gly168Val)
|
|
|
NM_006421.5(ARFGEF1):c.5194C>T (p.Arg1732Cys)
|
rs1563832518
|
|
NM_006517.5(SLC16A2):c.1390C>A (p.Pro464Thr)
|
|
|
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)
|
rs886037963
|
|
NM_006565.4(CTCF):c.1111C>T (p.Arg371Cys)
|
|
|
NM_006565.4(CTCF):c.2089G>T (p.Ala697Ser)
|
|
|
NM_006586.5(CNPY3):c.592G>A (p.Val198Met)
|
|
|
NM_006623.4(PHGDH):c.1210-2A>G
|
rs2101224430
|
|
NM_006662.3(SRCAP):c.1693G>A (p.Asp565Asn)
|
rs2151288555
|
|
NM_006715.4(MAN2C1):c.2702G>A (p.Arg901His)
|
|
|
NM_006734.4(HIVEP2):c.2380CCT[1] (p.Pro795del)
|
|
|
NM_006734.4(HIVEP2):c.3956C>T (p.Ala1319Val)
|
|
|
NM_006734.4(HIVEP2):c.4545CTC[1] (p.Ser1517del)
|
|
|
NM_006734.4(HIVEP2):c.4578_4579delinsCA (p.Pro1527Thr)
|
rs2114645755
|
|
NM_006767.4(LZTR1):c.1667G>A (p.Ser556Asn)
|
|
|
NM_006767.4(LZTR1):c.1685_1702dup (p.Arg567_Gln568insLeuGluGlnLeuCysArg)
|
rs1924752851
|
|
NM_006767.4(LZTR1):c.2325G>T (p.Gln775His)
|
|
|
NM_006772.3(SYNGAP1):c.3961C>T (p.Pro1321Ser)
|
|
|
NM_006772.3(SYNGAP1):c.3983G>A (p.Arg1328Gln)
|
|
|
NM_006885.4(ZFHX3):c.5767C>T (p.Pro1923Ser)
|
|
|
NM_006885.4(ZFHX3):c.9643_9657del (p.Ala3215_Pro3219del)
|
|
|
NM_006908.5(RAC1):c.409A>G (p.Ile137Val)
|
rs770760146
|
|
NM_006914.4(RORB):c.945C>A (p.Asn315Lys)
|
rs2118526044
|
|
NM_006922.4(SCN3A):c.4484C>T (p.Ala1495Val)
|
|
|
NM_006922.4(SCN3A):c.4811T>C (p.Met1604Thr)
|
rs1685095084
|
|
NM_006939.4(SOS2):c.1223A>T (p.His408Leu)
|
rs2139630118
|
|
NM_006939.4(SOS2):c.2002A>T (p.Ile668Phe)
|
|
|
NM_006939.4(SOS2):c.866C>T (p.Ala289Val)
|
|
|
NM_006940.6(SOX5):c.914G>A (p.Ser305Asn)
|
|
|
NM_006940.6(SOX5):c.988A>G (p.Thr330Ala)
|
rs1224542564
|
|
NM_007059.4(KPTN):c.1000-4G>A
|
|
|
NM_007059.4(KPTN):c.992A>G (p.Tyr331Cys)
|
|
|
NM_007103.4(NDUFV1):c.455G>A (p.Arg152His)
|
|
|
NM_007118.4(TRIO):c.2541C>G (p.His847Gln)
|
rs1744368530
|
|
NM_007118.4(TRIO):c.2714A>C (p.Gln905Pro)
|
rs2152341262
|
|
NM_007118.4(TRIO):c.4103A>G (p.Asp1368Gly)
|
rs2152363791
|
|
NM_007118.4(TRIO):c.5947G>A (p.Asp1983Asn)
|
|
|
NM_007118.4(TRIO):c.6153+4A>G
|
rs2126581436
|
|
NM_007118.4(TRIO):c.6374C>T (p.Thr2125Ile)
|
rs1425641656
|
|
NM_007118.4(TRIO):c.6661A>G (p.Ser2221Gly)
|
|
|
NM_007118.4(TRIO):c.6818A>G (p.Gln2273Arg)
|
|
|
NM_007126.5(VCP):c.1106T>C (p.Ile369Thr)
|
rs1828723406
|
|
NM_007129.5(ZIC2):c.718_720del (p.Pro240del)
|
rs957547266
|
|
NM_007129.5(ZIC2):c.800G>A (p.Ser267Asn)
|
|
|
NM_007198.4(PLPBP):c.88C>G (p.Arg30Gly)
|
|
|
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys)
|
rs876660071
|
|
NM_012086.5(GTF3C3):c.1420C>T (p.Arg474Ter)
|
rs1019988331
|
|
NM_012123.4(MTO1):c.2072_2073del (p.Glu691fs)
|
rs759445569
|
|
NM_012144.4(DNAI1):c.1724C>T (p.Pro575Leu)
|
|
|
NM_012199.5(AGO1):c.1217T>C (p.Val406Ala)
|
rs2148715621
|
|
NM_012208.4(HARS2):c.1450_1451delinsC (p.Ser484fs)
|
|
|
NM_012301.4(MAGI2):c.3919A>C (p.Lys1307Gln)
|
|
|
NM_012309.5(SHANK2):c.2308+1G>A
|
rs2135811944
|
|
NM_012330.4(KAT6B):c.1527G>C (p.Lys509Asn)
|
|
|
NM_012338.4(TSPAN12):c.214T>C (p.Cys72Arg)
|
rs2116466534
|
|
NM_012414.4(RAB3GAP2):c.1434G>C (p.Trp478Cys)
|
|
|
NM_012414.4(RAB3GAP2):c.3179C>T (p.Thr1060Met)
|
|
|
NM_012414.4(RAB3GAP2):c.574A>G (p.Thr192Ala)
|
|
|
NM_012418.4(FSCN2):c.1106-25G>A
|
|
|
NM_012463.4(ATP6V0A2):c.2441T>A (p.Phe814Tyr)
|
rs2135923855
|
|
NM_012464.5(TLL1):c.1729G>A (p.Glu577Lys)
|
|
|
NM_012464.5(TLL1):c.3015T>A (p.Tyr1005Ter)
|
|
|
NM_012470.4(TNPO3):c.470G>A (p.Arg157His)
|
|
|
NM_013266.4(CTNNA3):c.639G>C (p.Glu213Asp)
|
|
|
NM_013266.4(CTNNA3):c.92T>A (p.Ile31Lys)
|
|
|
NM_013275.6(ANKRD11):c.1214G>A (p.Arg405His)
|
|
|
NM_013275.6(ANKRD11):c.1468G>A (p.Glu490Lys)
|
rs2151764245
|
|
NM_013275.6(ANKRD11):c.2372A>G (p.Lys791Arg)
|
|
|
NM_013275.6(ANKRD11):c.2420T>C (p.Val807Ala)
|
|
|
NM_013275.6(ANKRD11):c.2462A>T (p.Asn821Ile)
|
|
|
NM_013275.6(ANKRD11):c.25G>A (p.Ala9Thr)
|
|
|
NM_013275.6(ANKRD11):c.2766G>C (p.Glu922Asp)
|
|
|
NM_013275.6(ANKRD11):c.3621G>C (p.Glu1207Asp)
|
rs2034382319
|
|
NM_013275.6(ANKRD11):c.3796A>C (p.Lys1266Gln)
|
|
|
NM_013275.6(ANKRD11):c.4001C>G (p.Pro1334Arg)
|
|
|
NM_013275.6(ANKRD11):c.5534G>T (p.Cys1845Phe)
|
rs1305421290
|
|
NM_013275.6(ANKRD11):c.5540C>T (p.Ser1847Leu)
|
|
|
NM_013275.6(ANKRD11):c.602-4C>T
|
|
|
NM_013275.6(ANKRD11):c.7470+5G>T
|
rs1555524784
|
|
NM_013275.6(ANKRD11):c.990G>C (p.Lys330Asn)
|
|
|
NM_013432.5(TONSL):c.3809+36G>A
|
|
|
NM_013436.5(NCKAP1):c.2273A>G (p.Gln758Arg)
|
|
|
NM_013444.4(UBQLN2):c.1003A>T (p.Thr335Ser)
|
|
|
NM_013450.4(BAZ2B):c.4213+1G>A
|
|
|
NM_013450.4(BAZ2B):c.6210-3T>C
|
|
|
NM_014000.3(VCL):c.2119G>A (p.Glu707Lys)
|
|
|
NM_014000.3(VCL):c.2569G>A (p.Glu857Lys)
|
|
|
NM_014000.3(VCL):c.3250T>C (p.Ser1084Pro)
|
|
|
NM_014008.5(CCDC22):c.319C>T (p.Arg107Cys)
|
|
|
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys)
|
rs2147938135
|
|
NM_014009.4(FOXP3):c.967+4A>G
|
rs1426535368
|
|
NM_014023.4(WDR37):c.850G>T (p.Val284Phe)
|
rs2131662062
|
|
NM_014112.5(TRPS1):c.1976AAG[1] (p.Glu660del)
|
|
|
NM_014159.7(SETD2):c.1261A>T (p.Arg421Trp)
|
|
|
NM_014159.7(SETD2):c.1417A>G (p.Thr473Ala)
|
|
|
NM_014159.7(SETD2):c.2009A>C (p.Glu670Ala)
|
|
|
NM_014159.7(SETD2):c.358A>T (p.Ile120Phe)
|
|
|
NM_014159.7(SETD2):c.5128C>T (p.Arg1710Cys)
|
rs2107674100
|
|
NM_014239.4(EIF2B2):c.1A>G (p.Met1Val)
|
|
|
NM_014254.3(RXYLT1):c.539G>T (p.Trp180Leu)
|
|
|
NM_014297.5(ETHE1):c.236A>T (p.His79Leu)
|
|
|
NM_014363.6(SACS):c.2888C>G (p.Ser963Cys)
|
|
|
NM_014423.4(AFF4):c.2678C>T (p.Ala893Val)
|
|
|
NM_014423.4(AFF4):c.2702C>T (p.Pro901Leu)
|
rs2150067444
|
|
NM_014467.3(SRPX2):c.49C>G (p.Leu17Val)
|
rs1422524189
|
|
NM_014489.4(PGAP2):c.657C>T (p.Leu219=)
|
|
|
NM_014491.4(FOXP2):c.258+36173G>A
|
rs747951230
|
|
NM_014515.7(CNOT2):c.1481A>G (p.Tyr494Cys)
|
|
|
NM_014516.4(CNOT3):c.943C>G (p.Gln315Glu)
|
|
|
NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser)
|
rs1040479346
|
|
NM_014625.4(NPHS2):c.138G>A (p.Ser46=)
|
rs1053139144
|
|
NM_014639.4(SKIC3):c.1507T>C (p.Tyr503His)
|
|
|
NM_014694.4(ADAMTSL2):c.1321G>A (p.Glu441Lys)
|
|
|
NM_014698.3(TMEM63A):c.2009A>G (p.Gln670Arg)
|
rs2102815944
|
|
NM_014704.4(CEP104):c.1264G>A (p.Glu422Lys)
|
|
|
NM_014704.4(CEP104):c.2503+1G>A
|
|
|
NM_014727.3(KMT2B):c.1102A>C (p.Lys368Gln)
|
|
|
NM_014727.3(KMT2B):c.3370C>T (p.Pro1124Ser)
|
|
|
NM_014795.4(ZEB2):c.1969T>C (p.Ser657Pro)
|
|
|
NM_014795.4(ZEB2):c.3539G>A (p.Arg1180Gln)
|
|
|
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln)
|
rs186003800
|
|
NM_014875.3(KIF14):c.1979+2C>T
|
|
|
NM_014875.3(KIF14):c.4353+7T>A
|
|
|
NM_014905.5(GLS):c.7C>T (p.Arg3Trp)
|
|
|
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro)
|
rs1558331867
|
|
NM_014946.4(SPAST):c.1613C>A (p.Ala538Asp)
|
|
|
NM_014967.5(FAN1):c.93T>G (p.Ile31Met)
|
rs781134478
|
|
NM_014975.3(MAST1):c.865C>G (p.Leu289Val)
|
|
|
NM_014989.7(RIMS1):c.1679-20589C>T
|
|
|
NM_014991.6(WDFY3):c.3473T>G (p.Leu1158Arg)
|
rs2149575345
|
|
NM_014991.6(WDFY3):c.4518+7A>G
|
|
|
NM_014991.6(WDFY3):c.7189G>T (p.Val2397Leu)
|
|
|
NM_014991.6(WDFY3):c.7324A>C (p.Met2442Leu)
|
|
|
NM_014994.3(MAPKBP1):c.1426A>G (p.Ile476Val)
|
|
|
NM_015001.3(SPEN):c.9361C>T (p.Arg3121Trp)
|
|
|
NM_015021.3(ZNF292):c.1262A>G (p.Asn421Ser)
|
|
|
NM_015021.3(ZNF292):c.1618T>C (p.Tyr540His)
|
|
|
NM_015021.3(ZNF292):c.3064G>C (p.Glu1022Gln)
|
|
|
NM_015021.3(ZNF292):c.5584C>A (p.Leu1862Met)
|
|
|
NM_015047.3(EMC1):c.2048G>A (p.Gly683Glu)
|
rs2151947387
|
|
NM_015047.3(EMC1):c.698C>T (p.Ala233Val)
|
|
|
NM_015047.3(EMC1):c.820C>T (p.Pro274Ser)
|
|
|
NM_015100.4(POGZ):c.3749C>G (p.Pro1250Arg)
|
|
|
NM_015102.5(NPHP4):c.1503+2dup
|
|
|
NM_015107.3(PHF8):c.1577A>G (p.Asp526Gly)
|
|
|
NM_015107.3(PHF8):c.2318G>C (p.Arg773Pro)
|
|
|
NM_015107.3(PHF8):c.2492G>A (p.Arg831Gln)
|
rs2149796421
|
|
NM_015166.4(MLC1):c.714+5G>A
|
|
|
NM_015178.3(RHOBTB2):c.1216A>G (p.Thr406Ala)
|
rs2128804901
|
|
NM_015215.4(CAMTA1):c.1514C>G (p.Ala505Gly)
|
|
|
NM_015267.4(CUX2):c.1571C>T (p.Ala524Val)
|
|
|
NM_015267.4(CUX2):c.1945G>A (p.Asp649Asn)
|
|
|
NM_015267.4(CUX2):c.223-1G>A
|
|
|
NM_015335.5(MED13L):c.2013-1G>T
|
|
|
NM_015335.5(MED13L):c.2635C>G (p.Pro879Ala)
|
rs2137330781
|
|
NM_015335.5(MED13L):c.404T>C (p.Met135Thr)
|
rs752482619
|
|
NM_015335.5(MED13L):c.4694C>T (p.Thr1565Ile)
|
|
|
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly)
|
rs28940309
|
|
NM_015338.6(ASXL1):c.1610A>G (p.Glu537Gly)
|
rs2123268579
|
|
NM_015338.6(ASXL1):c.1693G>C (p.Glu565Gln)
|
rs2123271125
|
|
NM_015338.6(ASXL1):c.2309C>T (p.Ser770Leu)
|
|
|
NM_015338.6(ASXL1):c.4136A>C (p.Lys1379Thr)
|
|
|
NM_015346.4(ZFYVE26):c.2339G>A (p.Arg780Gln)
|
|
|
NM_015346.4(ZFYVE26):c.5431C>T (p.Pro1811Ser)
|
rs1012956419
|
|
NM_015378.4(VPS13D):c.10205G>A (p.Arg3402His)
|
|
|
NM_015378.4(VPS13D):c.11062G>A (p.Ala3688Thr)
|
|
|
NM_015378.4(VPS13D):c.2225C>T (p.Thr742Met)
|
|
|
NM_015378.4(VPS13D):c.3106C>T (p.Arg1036Trp)
|
|
|
NM_015378.4(VPS13D):c.3107G>A (p.Arg1036Gln)
|
|
|
NM_015426.5(POC1A):c.176G>A (p.Gly59Asp)
|
|
|
NM_015466.4(PTPN23):c.2977C>T (p.Pro993Ser)
|
|
|
NM_015466.4(PTPN23):c.2977_2988delinsTT (p.Pro993fs)
|
rs1705261820
|
|
NM_015466.4(PTPN23):c.2978C>T (p.Pro993Leu)
|
|
|
NM_015474.4(SAMHD1):c.808G>A (p.Glu270Lys)
|
|
|
NM_015557.3(CHD5):c.3680G>C (p.Gly1227Ala)
|
rs1557544846
|
|
NM_015557.3(CHD5):c.4990G>A (p.Glu1664Lys)
|
|
|
NM_015559.3(SETBP1):c.4666A>C (p.Lys1556Gln)
|
|
|
NM_015570.4(AUTS2):c.1771C>T (p.Pro591Ser)
|
rs778369039
|
|
NM_015570.4(AUTS2):c.2153C>T (p.Ala718Val)
|
|
|
NM_015570.4(AUTS2):c.2609G>A (p.Arg870His)
|
|
|
NM_015570.4(AUTS2):c.293C>G (p.Thr98Ser)
|
|
|
NM_015629.4(PRPF31):c.89C>T (p.Pro30Leu)
|
|
|
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr)
|
rs2139767280
|
|
NM_015662.3(IFT172):c.2308A>C (p.Ile770Leu)
|
|
|
NM_015662.3(IFT172):c.786-2A>T
|
|
|
NM_015665.6(AAAS):c.1223G>A (p.Gly408Glu)
|
|
|
NM_015874.6(RBPJ):c.140A>G (p.Tyr47Cys)
|
|
|
NM_015896.4(ZMYND10):c.373-1G>A
|
|
|
NM_015981.4(CAMK2A):c.271C>T (p.Leu91=)
|
|
|
NM_016008.4(DYNC2LI1):c.127-8A>G
|
|
|
NM_016008.4(DYNC2LI1):c.764T>C (p.Leu255Pro)
|
|
|
NM_016030.6(TRAPPC12):c.1778T>G (p.Ile593Ser)
|
rs1666353803
|
|
NM_016030.6(TRAPPC12):c.361G>A (p.Glu121Lys)
|
|
|
NM_016032.4(ZDHHC9):c.601T>C (p.Phe201Leu)
|
rs2124105600
|
|
NM_016120.4(RLIM):c.74G>T (p.Arg25Leu)
|
|
|
NM_016219.5(MAN1B1):c.1378_1394delinsAG (p.Ala460_Tyr465delinsSer)
|
|
|
NM_016284.5(CNOT1):c.2035A>C (p.Asn679His)
|
|
|
NM_016284.5(CNOT1):c.3362C>T (p.Thr1121Met)
|
|
|
NM_016341.4(PLCE1):c.1207-43031G>A
|
|
|
NM_016341.4(PLCE1):c.3096+5G>A
|
|
|
NM_016417.3(GLRX5):c.115G>A (p.Gly39Ser)
|
|
|
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg)
|
rs1858145836
|
|
NM_016529.6(ATP8A2):c.1931A>C (p.Lys644Thr)
|
|
|
NM_016580.4(PCDH12):c.1493G>A (p.Arg498His)
|
|
|
NM_016580.4(PCDH12):c.2374G>A (p.Gly792Arg)
|
|
|
NM_016630.7(SPG21):c.226-1G>A
|
|
|
NM_016648.4(LARP7):c.1669-1_1671del
|
rs778909076
|
|
NM_016938.5(EFEMP2):c.732TGA[1] (p.Asp245del)
|
|
|
NM_017534.6(MYH2):c.2107G>A (p.Gly703Ser)
|
rs2142307936
|
|
NM_017541.4(CRYGS):c.421G>T (p.Glu141Ter)
|
|
|
NM_017547.4(FOXRED1):c.1418G>A (p.Arg473His)
|
|
|
NM_017617.5(NOTCH1):c.1070T>C (p.Phe357Ser)
|
rs1843316172
|
|
NM_017654.4(SAMD9):c.1504A>C (p.Ser502Arg)
|
rs1328395107
|
|
NM_017654.4(SAMD9):c.200T>G (p.Ile67Arg)
|
|
|
NM_017654.4(SAMD9):c.3136G>A (p.Glu1046Lys)
|
|
|
NM_017654.4(SAMD9):c.4532T>C (p.Leu1511Ser)
|
|
|
NM_017668.3(NDE1):c.406G>A (p.Glu136Lys)
|
|
|
NM_017668.3(NDE1):c.777C>G (p.Asp259Glu)
|
|
|
NM_017739.4(POMGNT1):c.1648A>G (p.Ser550Gly)
|
rs2148172085
|
|
NM_017780.4(CHD7):c.1546C>T (p.Pro516Ser)
|
|
|
NM_017780.4(CHD7):c.2398C>T (p.Pro800Ser)
|
|
|
NM_017780.4(CHD7):c.3347A>G (p.Lys1116Arg)
|
rs750214154
|
|
NM_017780.4(CHD7):c.5893A>C (p.Lys1965Gln)
|
|
|
NM_017780.4(CHD7):c.6638C>G (p.Ser2213Cys)
|
|
|
NM_017780.4(CHD7):c.8286G>T (p.Gln2762His)
|
rs758898311
|
|
NM_017780.4(CHD7):c.8470A>C (p.Thr2824Pro)
|
|
|
NM_017837.4(PIGV):c.974del (p.Val325fs)
|
|
|
NM_017934.7(PHIP):c.3326A>G (p.Asn1109Ser)
|
|
|
NM_017951.5(SMPD4):c.2374_2375del (p.Leu792fs)
|
|
|
NM_017951.5(SMPD4):c.812T>G (p.Leu271Arg)
|
|
|
NM_018026.4(PACS1):c.1129A>C (p.Asn377His)
|
|
|
NM_018055.5(NODAL):c.188C>A (p.Ala63Glu)
|
|
|
NM_018109.4(MTPAP):c.1283T>C (p.Ile428Thr)
|
|
|
NM_018109.4(MTPAP):c.1567C>T (p.Arg523Trp)
|
|
|
NM_018117.12(WDR11):c.2321C>T (p.Ala774Val)
|
|
|
NM_018117.12(WDR11):c.3665T>C (p.Ile1222Thr)
|
|
|
NM_018122.5(DARS2):c.1563G>T (p.Lys521Asn)
|
|
|
NM_018122.5(DARS2):c.1768T>G (p.Cys590Gly)
|
|
|
NM_018127.7(ELAC2):c.1033C>T (p.Pro345Ser)
|
|
|
NM_018136.5(ASPM):c.3232A>T (p.Ser1078Cys)
|
|
|
NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys)
|
|
|
NM_018136.5(ASPM):c.7937A>G (p.His2646Arg)
|
|
|
NM_018136.5(ASPM):c.8615C>T (p.Thr2872Met)
|
|
|
NM_018263.6(ASXL2):c.1388C>T (p.Pro463Leu)
|
|
|
NM_018263.6(ASXL2):c.938A>C (p.Gln313Pro)
|
|
|
NM_018489.3(ASH1L):c.2407T>G (p.Ser803Ala)
|
|
|
NM_018489.3(ASH1L):c.2951G>A (p.Arg984His)
|
|
|
NM_018489.3(ASH1L):c.3913C>T (p.His1305Tyr)
|
|
|
NM_018489.3(ASH1L):c.398A>G (p.Asn133Ser)
|
|
|
NM_018489.3(ASH1L):c.407G>C (p.Cys136Ser)
|
|
|
NM_018489.3(ASH1L):c.4484C>T (p.Ser1495Phe)
|
|
|
NM_018489.3(ASH1L):c.4546C>T (p.Arg1516Cys)
|
|
|
NM_018489.3(ASH1L):c.5260A>G (p.Ser1754Gly)
|
|
|
NM_018489.3(ASH1L):c.5285C>T (p.Pro1762Leu)
|
|
|
NM_018489.3(ASH1L):c.5369G>A (p.Cys1790Tyr)
|
|
|
NM_018489.3(ASH1L):c.6545G>C (p.Arg2182Thr)
|
rs2148414951
|
|
NM_018669.6(WDR4):c.38C>T (p.Thr13Met)
|
|
|
NM_018684.4(ZC4H2):c.177G>T (p.Lys59Asn)
|
|
|
NM_018684.4(ZC4H2):c.406G>C (p.Glu136Gln)
|
rs751880978
|
|
NM_018685.5(ANLN):c.3158G>A (p.Arg1053His)
|
|
|
NM_018896.5(CACNA1G):c.1468T>G (p.Ser490Ala)
|
rs2040529103
|
|
NM_018896.5(CACNA1G):c.3896A>G (p.Lys1299Arg)
|
|
|
NM_018896.5(CACNA1G):c.6109C>T (p.Arg2037Trp)
|
|
|
NM_018990.4(SASH3):c.442+3G>A
|
rs2124081404
|
|
NM_019014.6(POLR1B):c.1231A>G (p.Met411Val)
|
|
|
NM_019042.5(PUS7):c.805A>G (p.Thr269Ala)
|
|
|
NM_019055.6(ROBO4):c.1678C>T (p.Arg560Cys)
|
|
|
NM_019055.6(ROBO4):c.1900C>T (p.Arg634Cys)
|
|
|
NM_020066.5(FMN2):c.1748A>C (p.Asn583Thr)
|
|
|
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT
|
rs869025349
|
|
NM_020320.5(RARS2):c.1511+3A>G
|
rs886061821
|
|
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
|
|
|
NM_020338.4(ZMIZ1):c.1021T>G (p.Ser341Ala)
|
|
|
NM_020338.4(ZMIZ1):c.1097G>T (p.Gly366Val)
|
|
|
NM_020340.5(ARFGEF3):c.4930C>T (p.Arg1644Ter)
|
|
|
NM_020366.4(RPGRIP1):c.840G>C (p.Lys280Asn)
|
|
|
NM_020366.4(RPGRIP1):c.94A>G (p.Met32Val)
|
rs2139144559
|
|
NM_020366.4(RPGRIP1):c.953C>G (p.Ala318Gly)
|
|
|
NM_020433.5(JPH2):c.1417C>T (p.His473Tyr)
|
|
|
NM_020433.5(JPH2):c.373G>A (p.Asp125Asn)
|
|
|
NM_020433.5(JPH2):c.505G>A (p.Glu169Lys)
|
rs2072600840
|
|
NM_020458.4(TTC7A):c.563G>A (p.Arg188His)
|
rs147471840
|
|
NM_020461.4(TUBGCP6):c.5206G>A (p.Val1736Ile)
|
rs762939715
|
|
NM_020702.5(MYORG):c.841T>C (p.Tyr281His)
|
|
|
NM_020706.2(SCAF4):c.415A>G (p.Ser139Gly)
|
|
|
NM_020717.5(SHROOM4):c.2440A>C (p.Met814Leu)
|
rs1313449720
|
|
NM_020719.3(PRR12):c.5909T>C (p.Leu1970Pro)
|
rs2122390232
|
|
NM_020738.4(KIDINS220):c.2294A>G (p.Asn765Ser)
|
|
|
NM_020738.4(KIDINS220):c.959A>G (p.Asp320Gly)
|
|
|
NM_020745.4(AARS2):c.1687A>T (p.Asn563Tyr)
|
rs2153354521
|
|
NM_020751.3(COG6):c.623+1G>T
|
|
|
NM_020754.4(ARHGAP31):c.1487T>C (p.Leu496Pro)
|
|
|
NM_020754.4(ARHGAP31):c.3199A>G (p.Ser1067Gly)
|
|
|
NM_020774.4(MIB1):c.442G>A (p.Ala148Thr)
|
rs369261422
|
|
NM_020778.5(ALPK3):c.1582C>T (p.Pro528Ser)
|
|
|
NM_020778.5(ALPK3):c.2284G>A (p.Gly762Arg)
|
|
|
NM_020778.5(ALPK3):c.277G>A (p.Asp93Asn)
|
|
|
NM_020778.5(ALPK3):c.3569C>T (p.Thr1190Met)
|
|
|
NM_020778.5(ALPK3):c.4130-4T>G
|
|
|
NM_020778.5(ALPK3):c.4291G>A (p.Gly1431Arg)
|
rs750258262
|
|
NM_020778.5(ALPK3):c.5009G>A (p.Ser1670Asn)
|
|
|
NM_020778.5(ALPK3):c.5115del (p.Ter1706SerextTer?)
|
rs753251432
|
|
NM_020778.5(ALPK3):c.831C>A (p.Asn277Lys)
|
|
|
NM_020779.4(WDR35):c.796A>G (p.Ser266Gly)
|
|
|
NM_020791.4(TAOK1):c.289C>T (p.Arg97Cys)
|
|
|
NM_020821.3(VPS13C):c.1304C>T (p.Thr435Ile)
|
|
|
NM_020821.3(VPS13C):c.7199A>G (p.Asn2400Ser)
|
|
|
NM_020822.3(KCNT1):c.2330G>C (p.Cys777Ser)
|
|
|
NM_020829.4(RIC1):c.1367G>A (p.Arg456Gln)
|
|
|
NM_020919.4(ALS2):c.176A>T (p.Asp59Val)
|
|
|
NM_020928.2(ZSWIM6):c.2248G>A (p.Gly750Arg)
|
|
|
NM_020971.3(SPTBN4):c.4862T>A (p.Phe1621Tyr)
|
|
|
NM_021005.4(NR2F2):c.418C>T (p.Leu140Phe)
|
|
|
NM_021044.4(DHH):c.434G>C (p.Arg145Pro)
|
|
|
NM_021072.4(HCN1):c.1139T>A (p.Ile380Asn)
|
|
|
NM_021076.4(NEFH):c.1095del (p.Gln365fs)
|
|
|
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer)
|
rs1555513044
|
|
NM_021098.3(CACNA1H):c.4717C>T (p.Arg1573Ter)
|
rs1567543511
|
|
NM_021120.4(DLG3):c.127G>A (p.Gly43Arg)
|
|
|
NM_021120.4(DLG3):c.1302G>A (p.Ser434=)
|
rs1555961898
|
|
NM_021120.4(DLG3):c.575C>T (p.Ser192Leu)
|
|
|
NM_021224.6(ZNF462):c.2966C>T (p.Ala989Val)
|
|
|
NM_021224.6(ZNF462):c.4885C>T (p.Pro1629Ser)
|
rs2131506841
|
|
NM_021224.6(ZNF462):c.6227C>T (p.Ala2076Val)
|
|
|
NM_021628.3(ALOXE3):c.1562+4_1562+5insCACCTCT
|
rs2151837897
|
|
NM_021629.4(GNB4):c.834C>A (p.Phe278Leu)
|
|
|
NM_021729.6(VPS11):c.190A>C (p.Met64Leu)
|
|
|
NM_021729.6(VPS11):c.2440C>T (p.Pro814Ser)
|
|
|
NM_021814.5(ELOVL5):c.246+3859C>G
|
|
|
NM_021939.4(FKBP10):c.385G>A (p.Gly129Ser)
|
|
|
NM_022095.4(ZNF335):c.2047T>C (p.Cys683Arg)
|
|
|
NM_022095.4(ZNF335):c.2062C>T (p.Arg688Trp)
|
|
|
NM_022114.4(PRDM16):c.2804C>T (p.Pro935Leu)
|
rs2100676170
|
|
NM_022124.6(CDH23):c.4147G>A (p.Asp1383Asn)
|
rs752442832
|
|
NM_022455.5(NSD1):c.4946C>G (p.Ala1649Gly)
|
|
|
NM_022455.5(NSD1):c.5789G>A (p.Arg1930His)
|
rs1391504793
|
|
NM_022489.4(INF2):c.3740_3741del (p.Val1247fs)
|
rs753327806
|
|
NM_022489.4(INF2):c.607G>A (p.Ala203Thr)
|
rs1213058223
|
|
NM_022552.5(DNMT3A):c.148C>T (p.Arg50Trp)
|
|
|
NM_022552.5(DNMT3A):c.2411C>A (p.Pro804Gln)
|
rs750597155
|
|
NM_022552.5(DNMT3A):c.460A>G (p.Lys154Glu)
|
|
|
NM_022552.5(DNMT3A):c.640-3826_640-3798del
|
|
|
NM_022893.4(BCL11A):c.1589G>T (p.Arg530Leu)
|
|
|
NM_022893.4(BCL11A):c.91C>G (p.Pro31Ala)
|
|
|
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs)
|
rs778575439
|
|
NM_024334.3(TMEM43):c.47A>G (p.Lys16Arg)
|
rs770619613
|
|
NM_024334.3(TMEM43):c.482T>G (p.Phe161Cys)
|
|
|
NM_024334.3(TMEM43):c.670T>C (p.Phe224Leu)
|
rs1695146244
|
|
NM_024334.3(TMEM43):c.844A>G (p.Thr282Ala)
|
|
|
NM_024408.4(NOTCH2):c.2365G>A (p.Gly789Ser)
|
rs2101122120
|
|
NM_024408.4(NOTCH2):c.2560T>C (p.Phe854Leu)
|
rs1650363387
|
|
NM_024408.4(NOTCH2):c.3661C>A (p.Leu1221Ile)
|
|
|
NM_024408.4(NOTCH2):c.4019C>T (p.Ala1340Val)
|
rs1649454489
|
|
NM_024408.4(NOTCH2):c.6924G>C (p.Gln2308His)
|
|
|
NM_024411.5(PDYN):c.630C>G (p.Phe210Leu)
|
|
|
NM_024417.5(FDXR):c.623C>T (p.Thr208Met)
|
|
|
NM_024496.4(IRF2BPL):c.109G>A (p.Gly37Ser)
|
|
|
NM_024496.4(IRF2BPL):c.1262T>G (p.Ile421Ser)
|
|
|
NM_024496.4(IRF2BPL):c.1704G>C (p.Gln568His)
|
|
|
NM_024496.4(IRF2BPL):c.1829C>G (p.Thr610Ser)
|
|
|
NM_024496.4(IRF2BPL):c.2003G>A (p.Gly668Glu)
|
|
|
NM_024537.4(CARS2):c.465+3A>G
|
|
|
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)
|
rs565935886
|
|
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)
|
rs572671721
|
|
NM_024596.5(MCPH1):c.1844C>G (p.Thr615Arg)
|
|
|
NM_024596.5(MCPH1):c.1935+6T>C
|
|
|
NM_024596.5(MCPH1):c.208C>T (p.Leu70Phe)
|
|
|
NM_024665.7(TBL1XR1):c.1007T>C (p.Leu336Ser)
|
|
|
NM_024665.7(TBL1XR1):c.472C>A (p.Pro158Thr)
|
|
|
NM_024715.4(TXNDC15):c.304G>C (p.Glu102Gln)
|
|
|
NM_024721.5(ZFHX4):c.118C>T (p.Pro40Ser)
|
|
|
NM_024757.5(EHMT1):c.1845A>T (p.Lys615Asn)
|
|
|
NM_024757.5(EHMT1):c.2132T>C (p.Leu711Pro)
|
rs2136712318
|
|
NM_024757.5(EHMT1):c.2505G>A (p.Lys835=)
|
|
|
NM_024757.5(EHMT1):c.3725_3726del (p.Tyr1242fs)
|
|
|
NM_024757.5(EHMT1):c.580C>T (p.Pro194Ser)
|
|
|
NM_024817.3(THSD4):c.650A>G (p.Gln217Arg)
|
rs748660152
|
|
NM_024884.3(L2HGDH):c.1031G>A (p.Ser344Asn)
|
|
|
NM_025099.6(CTC1):c.1535A>T (p.Asp512Val)
|
|
|
NM_025099.6(CTC1):c.556G>C (p.Val186Leu)
|
rs185346402
|
|
NM_025114.4(CEP290):c.2288T>C (p.Ile763Thr)
|
|
|
NM_025137.4(SPG11):c.1906C>G (p.Leu636Val)
|
rs145316065
|
|
NM_025137.4(SPG11):c.3037_3038+8del
|
|
|
NM_025137.4(SPG11):c.3074A>T (p.Lys1025Ile)
|
rs1567163203
|
|
NM_025150.5(TARS2):c.1312C>G (p.Arg438Gly)
|
|
|
NM_030632.3(ASXL3):c.3433T>C (p.Ser1145Pro)
|
|
|
NM_030653.4(DDX11):c.1180G>A (p.Glu394Lys)
|
|
|
NM_030653.4(DDX11):c.877C>T (p.His293Tyr)
|
|
|
NM_030665.4(RAI1):c.1658T>C (p.Val553Ala)
|
|
|
NM_030665.4(RAI1):c.4415C>G (p.Ala1472Gly)
|
|
|
NM_030777.4(SLC2A10):c.851C>A (p.Thr284Asn)
|
rs765689972
|
|
NM_030948.6(PHACTR1):c.1454A>G (p.Asn485Ser)
|
rs2127468177
|
|
NM_031206.7(LAS1L):c.1285G>A (p.Ala429Thr)
|
|
|
NM_031206.7(LAS1L):c.1571C>A (p.Pro524His)
|
|
|
NM_031206.7(LAS1L):c.1613G>A (p.Ser538Asn)
|
|
|
NM_031206.7(LAS1L):c.663C>A (p.Asp221Glu)
|
rs778389447
|
|
NM_031407.7(HUWE1):c.11501A>G (p.Glu3834Gly)
|
|
|
NM_031407.7(HUWE1):c.11591T>C (p.Leu3864Pro)
|
|
|
NM_031407.7(HUWE1):c.120G>C (p.Gln40His)
|
|
|
NM_031407.7(HUWE1):c.12865G>A (p.Asp4289Asn)
|
|
|
NM_031407.7(HUWE1):c.1779+5G>A
|
rs2148854427
|
|
NM_031407.7(HUWE1):c.1826G>T (p.Ser609Ile)
|
|
|
NM_031407.7(HUWE1):c.5228G>A (p.Gly1743Glu)
|
|
|
NM_031407.7(HUWE1):c.5915T>G (p.Met1972Arg)
|
|
|
NM_031407.7(HUWE1):c.7598G>A (p.Gly2533Asp)
|
|
|
NM_031418.4(ANO3):c.2306T>C (p.Val769Ala)
|
|
|
NM_031475.2(ESPN):c.2339_2341delAGG
|
rs1399633263
|
|
NM_031844.3(HNRNPU):c.1028A>G (p.Lys343Arg)
|
|
|
NM_031844.3(HNRNPU):c.325G>C (p.Glu109Gln)
|
|
|
NM_031844.3(HNRNPU):c.421G>A (p.Gly141Arg)
|
|
|
NM_031885.5(BBS2):c.1690G>T (p.Ala564Ser)
|
|
|
NM_032188.3(KAT8):c.725G>C (p.Arg242Pro)
|
rs2057547080
|
|
NM_032193.4(RNASEH2C):c.404A>G (p.Glu135Gly)
|
|
|
NM_032217.5(ANKRD17):c.7729A>C (p.Thr2577Pro)
|
|
|
NM_032237.5(POMK):c.352G>T (p.Asp118Tyr)
|
|
|
NM_032271.3(TRAF7):c.1135+7A>G
|
rs2141290647
|
|
NM_032357.4(CCDC115):c.305G>A (p.Arg102Gln)
|
|
|
NM_032380.5(GFM2):c.1758G>C (p.Arg586Ser)
|
|
|
NM_032382.5(COG8):c.1643T>C (p.Ile548Thr)
|
|
|
NM_032382.5(COG8):c.888_890del (p.Glu296del)
|
|
|
NM_032409.3(PINK1):c.898C>T (p.Pro300Ser)
|
rs2154533833
|
|
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser)
|
rs199592185
|
|
NM_032536.4(NTNG2):c.964A>C (p.Asn322His)
|
|
|
NM_032588.4(TRIM63):c.1051+1G>A
|
|
|
NM_032588.4(TRIM63):c.427T>C (p.Ser143Pro)
|
rs1359846866
|
|
NM_032634.4(PIGO):c.1297C>T (p.Arg433Trp)
|
|
|
NM_032776.3(JMJD1C):c.2219T>C (p.Leu740Pro)
|
rs2133216478
|
|
NM_032793.5(MFSD2A):c.1394G>A (p.Arg465His)
|
|
|
NM_032793.5(MFSD2A):c.228+8G>A
|
|
|
NM_033087.4(ALG2):c.292G>A (p.Ala98Thr)
|
|
|
NM_033453.4(ITPA):c.*53C>T
|
|
|
NM_033550.4(TP53RK):c.185G>A (p.Arg62His)
|
|
|
NM_033550.4(TP53RK):c.616G>C (p.Ala206Pro)
|
|
|
NM_033641.4(COL4A6):c.4768C>T (p.Pro1590Ser)
|
rs2148048891
|
|
NM_052813.5(CARD9):c.1434+1G>C
|
rs141992399
|
|
NM_052859.4(RFT1):c.109C>T (p.Arg37Cys)
|
rs764833139
|
|
NM_053013.4(ENO3):c.1277G>A (p.Arg426His)
|
|
|
NM_057175.5(NAA15):c.814A>G (p.Asn272Asp)
|
|
|
NM_058004.4(PI4KA):c.3109G>A (p.Ala1037Thr)
|
rs1568988215
|
|
NM_058004.4(PI4KA):c.911T>A (p.Ile304Asn)
|
rs752196534
|
|
NM_058179.4(PSAT1):c.1004A>T (p.His335Leu)
|
|
|
NM_078480.3(PUF60):c.361C>T (p.Arg121Trp)
|
rs2130258570
|
|
NM_130466.4(UBE3B):c.1507G>A (p.Gly503Arg)
|
|
|
NM_130466.4(UBE3B):c.2519T>C (p.Ile840Thr)
|
|
|
NM_133259.4(LRPPRC):c.121C>T (p.Pro41Ser)
|
rs908473003
|
|
NM_133433.4(NIPBL):c.4513C>G (p.Pro1505Ala)
|
|
|
NM_133433.4(NIPBL):c.5773G>A (p.Ala1925Thr)
|
|
|
NM_133433.4(NIPBL):c.7414A>G (p.Met2472Val)
|
|
|
NM_133433.4(NIPBL):c.7489G>T (p.Val2497Phe)
|
rs759115050
|
|
NM_133433.4(NIPBL):c.8111G>A (p.Ser2704Asn)
|
|
|
NM_133443.4(GPT2):c.1481+3del
|
|
|
NM_133443.4(GPT2):c.328C>T (p.Arg110Trp)
|
|
|
NM_133443.4(GPT2):c.839A>G (p.Lys280Arg)
|
|
|
NM_133443.4(GPT2):c.886C>T (p.Leu296Phe)
|
|
|
NM_138295.5(PKD1L1):c.2027C>T (p.Pro676Leu)
|
|
|
NM_138395.4(MARS2):c.590T>A (p.Leu197His)
|
rs2106292827
|
|
NM_138459.5(NUS1):c.22G>T (p.Val8Leu)
|
|
|
NM_138477.4(CDAN1):c.1763T>C (p.Met588Thr)
|
|
|
NM_138477.4(CDAN1):c.2660C>T (p.Ala887Val)
|
|
|
NM_138576.4(BCL11B):c.1748C>T (p.Ala583Val)
|
|
|
NM_138576.4(BCL11B):c.182G>T (p.Cys61Phe)
|
rs2139953989
|
|
NM_138694.4(PKHD1):c.10075G>C (p.Gly3359Arg)
|
|
|
NM_138694.4(PKHD1):c.1166C>T (p.Thr389Ile)
|
|
|
NM_138694.4(PKHD1):c.166T>C (p.Ser56Pro)
|
|
|
NM_138694.4(PKHD1):c.2179A>G (p.Asn727Asp)
|
|
|
NM_138694.4(PKHD1):c.2948G>A (p.Cys983Tyr)
|
rs1554208064
|
|
NM_138694.4(PKHD1):c.3373A>G (p.Thr1125Ala)
|
rs144365187
|
|
NM_138694.4(PKHD1):c.5236G>C (p.Gly1746Arg)
|
rs745387993
|
|
NM_138694.4(PKHD1):c.5358C>G (p.Ser1786Arg)
|
|
|
NM_138694.4(PKHD1):c.619G>T (p.Asp207Tyr)
|
|
|
NM_138694.4(PKHD1):c.6332+2T>A
|
rs1783090781
|
|
NM_138694.4(PKHD1):c.712A>G (p.Met238Val)
|
|
|
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)
|
rs759568939
|
|
NM_138927.4(SON):c.2005G>A (p.Val669Met)
|
|
|
NM_138927.4(SON):c.5647AGA[1] (p.Arg1884del)
|
|
|
NM_138927.4(SON):c.761C>T (p.Thr254Ile)
|
rs2085722208
|
|
NM_144573.4(NEXN):c.1251+1G>A
|
rs1650474978
|
|
NM_144573.4(NEXN):c.1499C>A (p.Ala500Glu)
|
rs2102176895
|
|
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)
|
rs397517853
|
|
NM_144599.5(NIPA1):c.257C>G (p.Ala86Gly)
|
|
|
NM_145207.3(AFG2A):c.2406A>C (p.Arg802Ser)
|
rs1741466817
|
|
NM_145239.3(PRRT2):c.15CTCTGAGAT[3] (p.Ile8_Glu10dup)
|
rs757994031
|
|
NM_145239.3(PRRT2):c.769G>A (p.Glu257Lys)
|
rs2142426795
|
|
NM_145309.6(LRRC51):c.330del (p.His110fs)
|
rs2136541413
|
|
NM_152268.4(PARS2):c.874T>C (p.Cys292Arg)
|
rs779085274
|
|
NM_152269.5(MTRFR):c.292A>C (p.Thr98Pro)
|
|
|
NM_152383.5(DIS3L2):c.553G>T (p.Val185Leu)
|
|
|
NM_152415.3(VPS37A):c.1157C>T (p.Ala386Val)
|
|
|
NM_152419.3(HGSNAT):c.1517G>A (p.Arg506Gln)
|
|
|
NM_152564.5(VPS13B):c.2515+16591C>G
|
|
|
NM_152641.4(ARID2):c.4252G>A (p.Gly1418Arg)
|
rs2138178282
|
|
NM_152743.4(BRAT1):c.1771-32C>T
|
|
|
NM_153252.5(BRWD3):c.11C>T (p.Ala4Val)
|
|
|
NM_153252.5(BRWD3):c.1387-5T>C
|
|
|
NM_153766.3(KCNJ1):c.302C>T (p.Pro101Leu)
|
|
|
NM_153766.3(KCNJ1):c.513G>T (p.Lys171Asn)
|
|
|
NM_170606.3(KMT2C):c.11720C>T (p.Thr3907Ile)
|
rs2129099844
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NM_170606.3(KMT2C):c.30G>T (p.Glu10Asp)
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NM_170606.3(KMT2C):c.3821A>G (p.Lys1274Arg)
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NM_170606.3(KMT2C):c.3863G>A (p.Arg1288Gln)
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rs1345303559
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NM_170606.3(KMT2C):c.6349T>C (p.Ser2117Pro)
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NM_170606.3(KMT2C):c.6491G>T (p.Gly2164Val)
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NM_170606.3(KMT2C):c.7170C>G (p.Ile2390Met)
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NM_170606.3(KMT2C):c.8011A>G (p.Thr2671Ala)
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NM_170606.3(KMT2C):c.8342T>A (p.Ile2781Asn)
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NM_170606.3(KMT2C):c.8849A>T (p.His2950Leu)
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NM_170675.5(MEIS2):c.1114del (p.Asp372fs)
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NM_170675.5(MEIS2):c.1147+347del
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NM_170675.5(MEIS2):c.236C>G (p.Ala79Gly)
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rs1208597242
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NM_172107.4(KCNQ2):c.1787G>C (p.Gly596Ala)
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rs2145497630
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NM_172107.4(KCNQ2):c.856C>G (p.Gln286Glu)
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NM_172362.3(KCNH1):c.2020C>T (p.Arg674Trp)
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rs754794236
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NM_172362.3(KCNH1):c.2636C>T (p.Ser879Leu)
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rs2149000783
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NM_172362.3(KCNH1):c.2735A>C (p.His912Pro)
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rs2149000714
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NM_173076.3(ABCA12):c.3416T>C (p.Leu1139Pro)
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rs2105976738
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NM_173602.3(DIP2B):c.1537C>T (p.Pro513Ser)
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NM_173630.4(RTTN):c.3596T>C (p.Ile1199Thr)
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NM_173630.4(RTTN):c.6226A>T (p.Ile2076Phe)
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rs554677788
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NM_173849.3(GSC):c.256G>C (p.Gly86Arg)
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rs951684427
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NM_174916.3(UBR1):c.593T>C (p.Ile198Thr)
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NM_174934.4(SCN4B):c.377C>T (p.Thr126Met)
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NM_176787.5(PIGN):c.1147T>G (p.Leu383Val)
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rs2147134178
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NM_176787.5(PIGN):c.130AGA[1] (p.Arg45del)
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rs1568244811
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NM_176787.5(PIGN):c.370G>A (p.Asp124Asn)
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rs2147517284
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NM_176824.3(BBS7):c.2137G>A (p.Asp713Asn)
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NM_176869.3(PPA2):c.791C>T (p.Ala264Val)
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rs2110390901
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NM_177398.4(LMX1A):c.581G>T (p.Arg194Leu)
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NM_177986.5(DSG4):c.1005+1G>A
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NM_178014.4(TUBB):c.161C>T (p.Ala54Val)
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rs1776362492
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NM_178335.3(CCDC50):c.372G>C (p.Glu124Asp)
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NM_181486.4(TBX5):c.634A>G (p.Ile212Val)
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NM_181486.4(TBX5):c.663+4A>T
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NM_181507.2(HPS5):c.2068A>C (p.Lys690Gln)
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NM_181672.3(OGT):c.2723A>G (p.Lys908Arg)
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NM_182641.4(BPTF):c.1074G>C (p.Glu358Asp)
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NM_182641.4(BPTF):c.3403G>A (p.Asp1135Asn)
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rs2146917785
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NM_182641.4(BPTF):c.5044T>C (p.Tyr1682His)
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NM_182641.4(BPTF):c.8201A>G (p.Lys2734Arg)
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NM_182914.3(SYNE2):c.17583G>T (p.Trp5861Cys)
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NM_182925.5(FLT4):c.3209G>T (p.Arg1070Leu)
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rs771345898
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NM_182931.3(KMT2E):c.4244A>C (p.His1415Pro)
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NM_182978.4(GNAL):c.311G>A (p.Gly104Asp)
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NM_183381.3(RNF13):c.262A>T (p.Asn88Tyr)
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NM_194248.3(OTOF):c.1126G>A (p.Asp376Asn)
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NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln)
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rs80356585
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NM_194248.3(OTOF):c.1954C>T (p.Arg652Trp)
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NM_194248.3(OTOF):c.3017C>G (p.Thr1006Ser)
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NM_194454.3(KRIT1):c.1411+2_1411+5del
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NM_198334.3(GANAB):c.1787G>A (p.Arg596His)
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NM_198334.3(GANAB):c.428C>A (p.Ala143Asp)
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NM_198428.3(BBS9):c.328G>A (p.Gly110Arg)
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NM_198503.5(KCNT2):c.3289G>A (p.Asp1097Asn)
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NM_198578.4(LRRK2):c.7015A>G (p.Arg2339Gly)
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NM_198880.3(QRICH1):c.1245A>G (p.Ile415Met)
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NM_198880.3(QRICH1):c.2216G>A (p.Trp739Ter)
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rs2106802170
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NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys)
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rs2113325423
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NM_198904.4(GABRG2):c.389G>A (p.Ser130Asn)
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rs1194428749
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NM_201525.4(ADGRG1):c.1232G>A (p.Cys411Tyr)
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NM_205768.3(ZBTB18):c.446A>G (p.Lys149Arg)
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NM_205768.3(ZBTB18):c.859G>A (p.Ala287Thr)
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NM_206933.4(USH2A):c.1469A>C (p.His490Pro)
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NM_206933.4(USH2A):c.4133T>C (p.Leu1378Pro)
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rs2034852728
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NM_207037.2(TCF12):c.20dup (p.Met8fs)
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NM_207111.4(RNF216):c.2374G>A (p.Asp792Asn)
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rs1012568298
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NM_207352.4(CYP4V2):c.833C>T (p.Ala278Val)
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NM_207361.6(FREM2):c.475G>A (p.Ala159Thr)
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NM_212482.4(FN1):c.2605G>A (p.Asp869Asn)
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NM_212482.4(FN1):c.5920C>G (p.Leu1974Val)
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rs2106292157
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NM_213653.4(HJV):c.614G>C (p.Ser205Thr)
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NM_213653.4(HJV):c.950G>A (p.Cys317Tyr)
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rs1553769457
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