NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)
|
rs139548132
|
0.00360
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)
|
rs104893836
|
0.00234
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg)
|
rs201186470
|
0.00113
|
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys)
|
rs61732167
|
0.00112
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
NM_024063.3(AFG2B):c.527G>T (p.Gly176Val)
|
rs145451123
|
0.00098
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)
|
rs142572218
|
0.00088
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His)
|
rs119484086
|
0.00064
|
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
NM_001201427.2(DAAM2):c.3083C>T (p.Ser1028Leu)
|
rs111950018
|
0.00062
|
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)
|
rs199690076
|
0.00059
|
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly)
|
rs138435128
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00049
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)
|
rs28937590
|
0.00042
|
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp)
|
rs138943074
|
0.00038
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_012123.4(MTO1):c.1430G>A (p.Arg477His)
|
rs201544686
|
0.00028
|
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)
|
rs80356540
|
0.00028
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)
|
rs201842633
|
0.00025
|
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)
|
rs138119149
|
0.00025
|
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)
|
rs137852959
|
0.00024
|
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00022
|
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg)
|
rs753904927
|
0.00020
|
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg)
|
rs138632121
|
0.00020
|
NM_024339.5(THOC6):c.700G>C (p.Val234Leu)
|
rs150940923
|
0.00020
|
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp)
|
rs200426926
|
0.00020
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000083.3(CLCN1):c.180+3A>T
|
rs202217420
|
0.00019
|
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)
|
rs141437721
|
0.00018
|
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)
|
rs104895304
|
0.00018
|
NM_000823.4(GHRHR):c.214G>T (p.Glu72Ter)
|
rs121918117
|
0.00018
|
NM_005142.3(CBLIF):c.79+1G>A
|
rs147785187
|
0.00017
|
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)
|
rs143441644
|
0.00017
|
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)
|
rs137853054
|
0.00016
|
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter)
|
rs145119918
|
0.00016
|
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)
|
rs201725369
|
0.00016
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
|
rs121918358
|
0.00014
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
|
rs120074167
|
0.00013
|
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)
|
rs150321966
|
0.00012
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)
|
rs74315511
|
0.00011
|
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)
|
rs751459058
|
0.00011
|
NM_007059.4(KPTN):c.776C>A (p.Ser259Ter)
|
rs374298314
|
0.00011
|
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly)
|
rs201735454
|
0.00011
|
NM_017866.6(TMEM70):c.317-2A>G
|
rs183973249
|
0.00011
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_182476.3(COQ6):c.782C>T (p.Pro261Leu)
|
rs371260604
|
0.00011
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)
|
rs543206298
|
0.00010
|
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs)
|
rs267608339
|
0.00010
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_001379228.1(MRAP):c.3G>A (p.Met1Ile)
|
rs80358231
|
0.00009
|
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)
|
rs149712244
|
0.00009
|
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)
|
rs375032130
|
0.00009
|
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)
|
rs199826737
|
0.00009
|
NM_022445.4(TPK1):c.501+4A>T
|
rs375169579
|
0.00009
|
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)
|
rs267607119
|
0.00009
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)
|
rs200056620
|
0.00008
|
NM_001277115.2(DNAH11):c.8698C>T (p.Arg2900Ter)
|
rs368260932
|
0.00008
|
NM_004820.5(CYP7B1):c.825T>A (p.Tyr275Ter)
|
rs121908613
|
0.00008
|
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter)
|
rs119472026
|
0.00007
|
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)
|
rs606231259
|
0.00007
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_001164508.2(NEB):c.3255+1G>A
|
rs375628303
|
0.00006
|
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)
|
rs374434303
|
0.00006
|
NM_001303.4(COX10):c.1007A>T (p.Asp336Val)
|
rs104894557
|
0.00006
|
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)
|
rs752623413
|
0.00006
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)
|
rs761989177
|
0.00006
|
NM_016011.4(MECR):c.772C>T (p.Arg258Trp)
|
rs145192716
|
0.00006
|
NM_018127.7(ELAC2):c.2009del (p.Cys670fs)
|
rs761385155
|
0.00006
|
NM_024678.6(NARS2):c.418C>T (p.Arg140Ter)
|
rs1057524183
|
0.00006
|
NM_025243.4(SLC19A3):c.541T>C (p.Ser181Pro)
|
rs773971505
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_176787.5(PIGN):c.2284-1G>C
|
rs760977825
|
0.00006
|
NM_000404.4(GLB1):c.602G>A (p.Arg201His)
|
rs189115557
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_001199107.2(TBC1D24):c.1008del (p.His336fs)
|
rs398122967
|
0.00005
|
NM_002861.5(PCYT2):c.1075C>T (p.Arg359Ter)
|
rs377278120
|
0.00005
|
NM_004279.3(PMPCB):c.524G>A (p.Arg175His)
|
rs200188353
|
0.00005
|
NM_005149.3(TBX19):c.856C>T (p.Arg286Ter)
|
rs74315376
|
0.00005
|
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp)
|
rs746882521
|
0.00005
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)
|
rs1057942
|
0.00004
|
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)
|
rs121434370
|
0.00004
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)
|
rs202164519
|
0.00004
|
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)
|
rs118192177
|
0.00004
|
NM_001164508.2(NEB):c.9619-2A>G
|
rs375145370
|
0.00004
|
NM_001177316.2(SLC34A3):c.304+2T>C
|
rs201293634
|
0.00004
|
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=)
|
rs121918236
|
0.00004
|
NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu)
|
rs148936893
|
0.00004
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)
|
rs779070661
|
0.00004
|
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)
|
rs121913659
|
0.00004
|
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp)
|
rs748152539
|
0.00004
|
NM_012452.3(TNFRSF13B):c.198C>A (p.Cys66Ter)
|
rs144718007
|
0.00004
|
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter)
|
rs199835443
|
0.00004
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
NM_032409.3(PINK1):c.1040T>C (p.Leu347Pro)
|
rs28940285
|
0.00004
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)
|
rs773770609
|
0.00004
|
NM_000029.4(AGT):c.1124G>A (p.Arg375Gln)
|
rs74315283
|
0.00003
|
NM_000051.4(ATM):c.2250G>A (p.Lys750=)
|
rs1137887
|
0.00003
|
NM_000091.5(COL4A3):c.4825C>T (p.Arg1609Ter)
|
rs756231749
|
0.00003
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
NM_000157.4(GBA1):c.762-1G>C
|
rs1237637353
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)
|
rs121434286
|
0.00003
|
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)
|
rs2808001
|
0.00003
|
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)
|
rs398123061
|
0.00003
|
NM_001358921.2(COQ2):c.440G>A (p.Arg147His)
|
rs121918231
|
0.00003
|
NM_003119.4(SPG7):c.1552+1G>T
|
rs141644720
|
0.00003
|
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)
|
rs121908687
|
0.00003
|
NM_004366.6(CLCN2):c.1397-1G>A
|
rs1478304584
|
0.00003
|
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter)
|
rs80357123
|
0.00003
|
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)
|
rs80356740
|
0.00003
|
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)
|
rs143747297
|
0.00003
|
NM_012144.4(DNAI1):c.1543G>A (p.Gly515Ser)
|
rs79833450
|
0.00003
|
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn)
|
rs763799125
|
0.00003
|
NM_024306.5(FA2H):c.968C>T (p.Pro323Leu)
|
rs774131656
|
0.00003
|
NM_148897.3(SDR9C7):c.599T>C (p.Ile200Thr)
|
rs770729222
|
0.00003
|
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg)
|
rs409652
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000404.4(GLB1):c.716C>T (p.Thr239Met)
|
rs746766232
|
0.00002
|
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe)
|
rs1482760341
|
0.00002
|
NM_000540.3(RYR1):c.7063C>T (p.Arg2355Trp)
|
rs193922803
|
0.00002
|
NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter)
|
rs121908446
|
0.00002
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn)
|
rs121918233
|
0.00002
|
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)
|
rs137852967
|
0.00002
|
NM_002087.4(GRN):c.103G>A (p.Gly35Arg)
|
rs533451404
|
0.00002
|
NM_002437.5(MPV17):c.376-9T>G
|
rs368900406
|
0.00002
|
NM_002667.5(PLN):c.116T>G (p.Leu39Ter)
|
rs111033560
|
0.00002
|
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr)
|
rs770931871
|
0.00002
|
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu)
|
rs565090080
|
0.00002
|
NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter)
|
rs62130681
|
0.00002
|
NM_004407.4(DMP1):c.55-1G>C
|
rs587776697
|
0.00002
|
NM_004539.4(NARS1):c.1564C>T (p.Arg522Ter)
|
rs747737475
|
0.00002
|
NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr)
|
rs747427602
|
0.00002
|
NM_005138.3(SCO2):c.178C>T (p.Arg60Trp)
|
rs753779965
|
0.00002
|
NM_007055.4(POLR3A):c.3243-2A>G
|
rs1462460124
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_016341.4(PLCE1):c.961C>T (p.Arg321Ter)
|
rs267606954
|
0.00002
|
NM_018297.4(NGLY1):c.1025A>G (p.Tyr342Cys)
|
rs757712371
|
0.00002
|
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile)
|
rs1372719653
|
0.00002
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
NM_025137.4(SPG11):c.704_705del (p.His235fs)
|
rs312262719
|
0.00002
|
NM_032608.7(MYO18B):c.6433C>T (p.Arg2145Ter)
|
rs753585568
|
0.00002
|
NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser)
|
rs749464475
|
0.00002
|
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)
|
rs201082169
|
0.00002
|
NM_145207.3(AFG2A):c.394C>T (p.Gln132Ter)
|
rs1220351376
|
0.00002
|
NM_148897.3(SDR9C7):c.658C>T (p.Arg220Ter)
|
rs774363396
|
0.00002
|
NM_000051.4(ATM):c.1235+3A>G
|
rs1417190414
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)
|
rs772226819
|
0.00001
|
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)
|
rs121912805
|
0.00001
|
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter)
|
rs1453590085
|
0.00001
|
NM_000091.5(COL4A3):c.3109C>T (p.Arg1037Ter)
|
rs766900945
|
0.00001
|
NM_000092.5(COL4A4):c.1921C>T (p.Arg641Ter)
|
rs778345125
|
0.00001
|
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)
|
rs74500255
|
0.00001
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)
|
rs199473428
|
0.00001
|
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)
|
rs397515990
|
0.00001
|
NM_000256.3(MYBPC3):c.3190+1G>A
|
rs111683277
|
0.00001
|
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)
|
rs121913625
|
0.00001
|
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)
|
rs398123284
|
0.00001
|
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys)
|
rs1188070167
|
0.00001
|
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)
|
rs121908556
|
0.00001
|
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)
|
rs121908557
|
0.00001
|
NM_000406.3(GNRHR):c.350T>G (p.Leu117Arg)
|
rs727505367
|
0.00001
|
NM_000431.4(MVK):c.604G>A (p.Gly202Arg)
|
rs104895301
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
|
rs28942071
|
0.00001
|
NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)
|
rs121913596
|
0.00001
|
NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr)
|
rs1305711807
|
0.00001
|
NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp)
|
rs1449758112
|
0.00001
|
NM_001002755.4(NFU1):c.544C>T (p.Arg182Trp)
|
rs1354126704
|
0.00001
|
NM_001002755.4(NFU1):c.545+5G>A
|
rs756085990
|
0.00001
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001082971.2(DDC):c.304G>A (p.Gly102Ser)
|
rs137853207
|
0.00001
|
NM_001083614.2(EARS2):c.320G>A (p.Arg107His)
|
rs1021330566
|
0.00001
|
NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter)
|
rs752545577
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg)
|
rs1190703859
|
0.00001
|
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)
|
rs121912683
|
0.00001
|
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter)
|
rs1444468055
|
0.00001
|
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val)
|
rs568356836
|
0.00001
|
NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter)
|
rs1454466097
|
0.00001
|
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)
|
rs753960624
|
0.00001
|
NM_001370658.1(BTD):c.124G>A (p.Val42Met)
|
rs397507170
|
0.00001
|
NM_001379228.1(MRAP):c.106+1del
|
rs1476574441
|
0.00001
|
NM_001605.3(AARS1):c.2738G>A (p.Gly913Asp)
|
rs369774476
|
0.00001
|
NM_001605.3(AARS1):c.988C>T (p.Arg330Ter)
|
rs758183257
|
0.00001
|
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)
|
rs758432471
|
0.00001
|
NM_002087.4(GRN):c.708+1G>A
|
rs63749817
|
0.00001
|
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714
|
0.00001
|
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)
|
rs769410130
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln)
|
rs748925635
|
0.00001
|
NM_003172.4(SURF1):c.752-1G>C
|
rs1391748504
|
0.00001
|
NM_003285.3(TNR):c.3574C>T (p.Arg1192Trp)
|
rs1571308125
|
0.00001
|
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)
|
rs1135402725
|
0.00001
|
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln)
|
rs587784330
|
0.00001
|
NM_003560.4(PLA2G6):c.986G>A (p.Arg329His)
|
rs587784363
|
0.00001
|
NM_004836.7(EIF2AK3):c.2707C>T (p.Arg903Ter)
|
rs1178109063
|
0.00001
|
NM_004855.5(PIGB):c.392T>G (p.Leu131Ter)
|
rs923907091
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_005557.4(KRT16):c.379C>T (p.Arg127Cys)
|
rs59856285
|
0.00001
|
NM_005687.5(FARSB):c.226T>C (p.Cys76Arg)
|
rs1419129874
|
0.00001
|
NM_005687.5(FARSB):c.755T>C (p.Phe252Ser)
|
rs1466642025
|
0.00001
|
NM_005993.5(TBCD):c.2006+5G>A
|
rs1284192515
|
0.00001
|
NM_006295.3(VARS1):c.1210C>T (p.Arg404Trp)
|
rs749228986
|
0.00001
|
NM_006302.3(MOGS):c.1862dup (p.Ala621_Glu622insTer)
|
rs1399649784
|
0.00001
|
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe)
|
rs121908458
|
0.00001
|
NM_007055.4(POLR3A):c.601del (p.Ile201fs)
|
rs777280350
|
0.00001
|
NM_007126.5(VCP):c.476G>A (p.Arg159His)
|
rs121909335
|
0.00001
|
NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)
|
rs111033570
|
0.00001
|
NM_013254.4(TBK1):c.992+1G>A
|
rs1341055534
|
0.00001
|
NM_014239.4(EIF2B2):c.922G>A (p.Val308Met)
|
rs372548739
|
0.00001
|
NM_014297.5(ETHE1):c.375+5G>A
|
rs769259233
|
0.00001
|
NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg)
|
rs387906987
|
0.00001
|
NM_014625.4(NPHS2):c.538G>A (p.Val180Met)
|
rs74315347
|
0.00001
|
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)
|
rs773379832
|
0.00001
|
NM_015046.7(SETX):c.6620A>T (p.Asp2207Val)
|
rs1564482221
|
0.00001
|
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys)
|
rs1045118320
|
0.00001
|
NM_016580.4(PCDH12):c.451C>T (p.Arg151Ter)
|
rs1175979418
|
0.00001
|
NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp)
|
rs373075574
|
0.00001
|
NM_018946.4(NANS):c.448+1G>A
|
rs779218846
|
0.00001
|
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile)
|
rs587777585
|
0.00001
|
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly)
|
rs104894342
|
0.00001
|
NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter)
|
rs587777591
|
0.00001
|
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs)
|
rs386134181
|
0.00001
|
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter)
|
rs863225064
|
0.00001
|
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn)
|
rs773618224
|
0.00001
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921
|
0.00001
|
NM_022575.4(VPS16):c.1903C>T (p.Arg635Ter)
|
rs1422519039
|
0.00001
|
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter)
|
rs863224032
|
0.00001
|
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp)
|
rs139430866
|
0.00001
|
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs)
|
rs312262759
|
0.00001
|
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)
|
rs312262775
|
0.00001
|
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp)
|
rs1391712320
|
0.00001
|
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)
|
rs116840778
|
0.00001
|
NM_052845.4(MMAB):c.197-1G>T
|
rs763935916
|
0.00001
|
NM_057175.5(NAA15):c.382C>T (p.Arg128Ter)
|
rs1274633498
|
0.00001
|
NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe)
|
rs1204316787
|
0.00001
|
NM_139119.3(YY1AP1):c.250C>T (p.Gln84Ter)
|
rs1057519599
|
0.00001
|
NM_139119.3(YY1AP1):c.412-1G>A
|
rs199653824
|
0.00001
|
NM_145870.3(GSTZ1):c.136-2A>G
|
rs1303562049
|
0.00001
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
NM_153717.3(EVC):c.2894+3A>G
|
rs1424976594
|
0.00001
|
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)
|
rs121908426
|
0.00001
|
NM_176787.5(PIGN):c.996T>G (p.Ile332Met)
|
rs1060499763
|
0.00001
|
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met)
|
rs761917087
|
0.00001
|
NM_178526.5(SLC25A42):c.380+2T>A
|
rs1247424432
|
0.00001
|
NM_181789.4(GLDN):c.1305G>A (p.Trp435Ter)
|
rs775011495
|
0.00001
|
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)
|
rs780451185
|
0.00001
|
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)
|
rs121909715
|
0.00001
|
NM_206937.2(LIG4):c.833G>A (p.Arg278His)
|
rs104894421
|
0.00001
|
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp)
|
rs1323349209
|
0.00001
|
NM_213649.2(SFXN4):c.414+1G>A
|
rs1380193482
|
0.00001
|
GRCh37/hg19 11p15.1(chr11:18418095-18422557)
|
|
|
GRCh37/hg19 11q21(chr11:94153291-94170401)
|
|
|
GRCh37/hg19 12q14.2(chr12:64868010-64895161)
|
|
|
GRCh37/hg19 12q24.31(chr12:123738222-123738503)
|
|
|
GRCh37/hg19 13q33.1(chr13:102521075-102568995)
|
|
|
GRCh37/hg19 14q32.2(chr14:100317190-101012999)
|
|
|
GRCh37/hg19 15q12-13.1(chr15:27571956-28600013)
|
|
|
GRCh37/hg19 16p11.2(chr16:28497668-28497971)
|
|
|
GRCh37/hg19 16p13.3(chr16:1568217-1570809)
|
|
|
GRCh37/hg19 16p13.3(chr16:2140675-2140809)
|
|
|
GRCh37/hg19 16p13.3(chr16:2162341-2203046)
|
|
|
GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)
|
|
|
GRCh37/hg19 16q24.2(chr16:87969915-87970056)
|
|
|
GRCh37/hg19 1q21.3(chr1:150990288-151016203)
|
|
|
GRCh37/hg19 1q22(chr1:155188179-155209868)
|
|
|
GRCh37/hg19 20p13(chr20:3888573-3888925)
|
|
|
GRCh37/hg19 2q23.3(chr2:152502644-152502748)
|
|
|
GRCh37/hg19 2q24.3(chr2:166767837-167334206)
|
|
|
GRCh37/hg19 2q31.1(chr2:172644081-172644457)
|
|
|
GRCh37/hg19 2q36.3(chr2:227942610-227945265)
|
|
|
GRCh37/hg19 2q36.3(chr2:228167754-228169799)
|
|
|
GRCh37/hg19 5q23.1(chr5:118811401-118814716)
|
|
|
GRCh37/hg19 6p25.1(chr6:5545413-5545573)
|
|
|
GRCh37/hg19 6q26(chr6:162137107-162137163)
|
|
|
GRCh37/hg19 7p22.1(chr7:5692044-5692141)
|
|
|
GRCh37/hg19 7q21.3(chr7:93516132-95668733)
|
|
|
GRCh37/hg19 8q22.2(chr8:100123326-100182391)
|
|
|
GRCh37/hg19 9p13.3(chr9:35799615-35808850)
|
|
|
GRCh37/hg19 Xp21.1(chrX:31792077-31893490)
|
|
|
GRCh37/hg19 Xp21.2(chrX:29686547-29686621)
|
|
|
GRCh37/hg19 Xq22.3(chrX:107683356-107683436)
|
|
|
Multiple alleles
|
|
|
NC_000001.11:g.29203234del
|
rs1574315873
|
|
NC_000016.10:g.2092048_2092049dup
|
rs1596482597
|
|
NC_000018.9(TXNL4A):g.77748604_77748637del34
|
rs786205699
|
|
NC_000023.10:g.(22051242_22056586)_(22056656_22065167)del
|
|
|
NC_000023.10:g.(22065330_22094505)_(22095821_22108546)del
|
|
|
NC_000023.10:g.(22094593_22095593)_(22095821_22108546)del
|
|
|
NC_000023.10:g.(22095821_22108546)_(22108616_22112100)del
|
|
|
NC_000023.10:g.(22115157_22117149)_(22117270_22129584)del
|
|
|
NC_000023.10:g.(22117270_22129584)_(22132705_22151639)del
|
|
|
NC_000023.10:g.(22132705_22151639)_(22151742_22186428)del
|
|
|
NC_000023.10:g.(22186507_22196389)_(22231076_22237152)del
|
|
|
NC_000023.10:g.(22208620_22231047)_(22266070_?)del
|
|
|
NC_000023.10:g.(22237221_22239729)_(22239861_22244559)del
|
|
|
NC_000023.10:g.(22237221_22239729)_(22266070_?)del
|
|
|
NC_000023.10:g.(22239861_22244559)_(22266070_?)del
|
|
|
NC_000023.10:g.(22245729_22263449)_(22266070_?)del
|
|
|
NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del
|
|
|
NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del
|
|
|
NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del
|
|
|
NC_000023.10:g.(?_22051124)_(22051242_22056586)del
|
|
|
NC_000023.10:g.22256748_22370988del114241
|
|
|
NC_000023.11:g.(?_30304579)_(30309363_?)del
|
|
|
NC_000023.11:g.22130083_22232038dup
|
|
|
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro)
|
rs1597524963
|
|
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)
|
rs769280599
|
|
NM_000021.4(PSEN1):c.415A>G (p.Met139Val)
|
rs63751037
|
|
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly)
|
rs1566641934
|
|
NM_000021.4(PSEN1):c.617G>A (p.Gly206Asp)
|
rs63750082
|
|
NM_000021.4(PSEN1):c.697A>G (p.Met233Val)
|
rs63751287
|
|
NM_000026.4(ADSL):c.268G>A (p.Ala90Thr)
|
rs1601552154
|
|
NM_000038.6(APC):c.311C>G (p.Ser104Ter)
|
rs74953290
|
|
NM_000043.6(FAS):c.651+2T>C
|
rs267607122
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.5177+5G>A
|
rs759373136
|
|
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)
|
rs879254076
|
|
NM_000051.4(ATM):c.6205C>T (p.Gln2069Ter)
|
rs1555114563
|
|
NM_000051.4(ATM):c.743G>T (p.Arg248Leu)
|
rs769166447
|
|
NM_000051.4(ATM):c.7469dup (p.Trp2491fs)
|
rs1591161290
|
|
NM_000052.7(ATP7A):c.1946+1G>T
|
rs797045340
|
|
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly)
|
rs137853284
|
|
NM_000059.4(BRCA2):c.9027del (p.His3010fs)
|
rs80359742
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met)
|
rs193922136
|
|
NM_000080.4(CHRNE):c.1181_1187dup (p.Glu396delinsAspValTer)
|
rs1423995073
|
|
NM_000080.4(CHRNE):c.1327del
|
rs763258280
|
|
NM_000082.4(ERCC8):c.481+1G>C
|
rs1580007152
|
|
NM_000082.4(ERCC8):c.551-1G>A
|
rs1554073316
|
|
NM_000083.3(CLCN1):c.697G>A (p.Gly233Ser)
|
rs139039122
|
|
NM_000088.4(COL1A1):c.386del (p.Pro129fs)
|
rs72667014
|
|
NM_000089.4(COL1A2):c.3088G>A (p.Gly1030Ser)
|
rs1584330396
|
|
NM_000091.5(COL4A3):c.1831G>A (p.Gly611Arg)
|
rs1574753929
|
|
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)
|
rs1440033157
|
|
NM_000091.5(COL4A3):c.2746+1G>T
|
rs1574786225
|
|
NM_000091.5(COL4A3):c.2747-1G>T
|
rs1196996393
|
|
NM_000091.5(COL4A3):c.351C>A (p.Tyr117Ter)
|
rs750308686
|
|
NM_000091.5(COL4A3):c.816dup (p.Pro273fs)
|
rs1574701767
|
|
NM_000092.4(COL4A4):c.1321_1369+3del
|
rs1553676221
|
|
NM_000092.5(COL4A4):c.3699_3706+1del
|
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000095.3(COMP):c.1153G>T (p.Asp385Tyr)
|
rs1601054715
|
|
NM_000095.3(COMP):c.1368GGA[1] (p.Glu457del)
|
rs1601053887
|
|
NM_000111.3(SLC26A3):c.559G>T (p.Gly187Ter)
|
rs121913032
|
|
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)
|
rs80358233
|
|
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter)
|
rs539460201
|
|
NM_000138.5(FBN1):c.1558C>T (p.Gln520Ter)
|
rs1597579923
|
|
NM_000138.5(FBN1):c.1794C>G (p.Cys598Trp)
|
rs1555399954
|
|
NM_000138.5(FBN1):c.2438C>G (p.Ser813Ter)
|
rs1597569265
|
|
NM_000138.5(FBN1):c.3096C>A (p.Cys1032Ter)
|
rs1597564359
|
|
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys)
|
rs387906626
|
|
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys)
|
rs113080385
|
|
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter)
|
rs113001196
|
|
NM_000138.5(FBN1):c.671G>A (p.Cys224Tyr)
|
rs1566922396
|
|
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro)
|
rs121918505
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000143.4(FH):c.698G>T (p.Arg233Leu)
|
rs121913123
|
|
NM_000146.4(FTL):c.485_489dup (p.Glu164fs)
|
rs2122436225
|
|
NM_000147.5(FUCA1):c.564G>A (p.Trp188Ter)
|
rs189315801
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000161.3(GCH1):c.287G>A (p.Trp96Ter)
|
|
|
NM_000161.3(GCH1):c.631_632del (p.Met211fs)
|
rs886039379
|
|
NM_000165.5(GJA1):c.131C>T (p.Ala44Val)
|
rs794729675
|
|
NM_000166.6(GJB1):c.-103C>T
|
rs863224971
|
|
NM_000166.6(GJB1):c.783_784del (p.Ile262fs)
|
rs1602349955
|
|
NM_000170.3(GLDC):c.1654A>G (p.Met552Val)
|
rs386833529
|
|
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys)
|
rs121918410
|
|
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His)
|
rs61750173
|
|
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)
|
rs1057517928
|
|
NM_000193.4(SHH):c.1172del (p.Ala391fs)
|
rs1803239521
|
|
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp)
|
rs1555518481
|
|
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)
|
rs1033313360
|
|
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)
|
rs727504412
|
|
NM_000228.3(LAMB3):c.1628dup (p.Cys546fs)
|
|
|
NM_000238.4(KCNH2):c.1685A>G (p.His562Arg)
|
rs199472922
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
|
rs132630305
|
|
NM_000255.4(MMUT):c.1040T>G (p.Leu347Arg)
|
rs1026703654
|
|
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs)
|
rs1554159950
|
|
NM_000256.3(MYBPC3):c.2678del (p.Pro893fs)
|
|
|
NM_000256.3(MYBPC3):c.431_432del (p.Gly144fs)
|
rs397516047
|
|
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys)
|
rs606231324
|
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
|
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del)
|
rs121913648
|
|
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)
|
rs397516248
|
|
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)
|
rs397516258
|
|
NM_000264.5(PTCH1):c.290del (p.Asn97fs)
|
rs1554708751
|
|
NM_000264.5(PTCH1):c.808A>T (p.Lys270Ter)
|
rs1588610324
|
|
NM_000268.4(NF2):c.784C>T (p.Arg262Ter)
|
rs74315496
|
|
NM_000271.5(NPC1):c.3027del (p.Lys1010fs)
|
rs1598942578
|
|
NM_000274.4(OAT):c.772-1G>A
|
rs770390524
|
|
NM_000278.5(PAX2):c.76del (p.Val26fs)
|
rs75462234
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)
|
rs1555933963
|
|
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)
|
rs137853254
|
|
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys)
|
rs1569191659
|
|
NM_000284.4(PDHA1):c.738C>T (p.Gly246=)
|
rs1555934379
|
|
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly)
|
rs137853259
|
|
NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del)
|
rs1555935223
|
|
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs)
|
rs863224153
|
|
NM_000285.4(PEPD):c.540del (p.Ile180fs)
|
rs1600147235
|
|
NM_000285.4(PEPD):c.549-1G>A
|
rs1204749077
|
|
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
|
rs267608216
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
NM_000287.4(PEX6):c.2665A>G (p.Lys889Glu)
|
|
|
NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter)
|
rs1601780766
|
|
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)
|
rs1060500126
|
|
NM_000314.8(PTEN):c.959T>G (p.Leu320Ter)
|
rs1114167667
|
|
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)
|
rs527236150
|
|
NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg)
|
rs1598406692
|
|
NM_000346.4(SOX9):c.1372C>T (p.Gln458Ter)
|
rs1555629443
|
|
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)
|
rs61751389
|
|
NM_000358.3(TGFBI):c.371G>T (p.Arg124Leu)
|
rs121909211
|
|
NM_000363.5(TNNI3):c.470C>T (p.Ala157Val)
|
rs397516353
|
|
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp)
|
rs727503504
|
|
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)
|
rs397516355
|
|
NM_000368.5(TSC1):c.2524C>T (p.Gln842Ter)
|
rs1447417010
|
|
NM_000371.4(TTR):c.112G>T (p.Asp38Tyr)
|
|
|
NM_000380.4(XPA):c.772_785del (p.Arg258fs)
|
rs778543124
|
|
NM_000384.3(APOB):c.3562A>T (p.Lys1188Ter)
|
rs773255823
|
|
NM_000394.4(CRYAA):c.61C>T (p.Arg21Trp)
|
rs397515625
|
|
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)
|
rs104894161
|
|
NM_000426.4(LAMA2):c.4533del (p.Gly1512fs)
|
rs1776950897
|
|
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)
|
rs137852642
|
|
NM_000444.6(PHEX):c.1022T>A (p.Val341Asp)
|
rs1556026027
|
|
NM_000444.6(PHEX):c.1044del (p.Asp349fs)
|
rs1556026042
|
|
NM_000444.6(PHEX):c.1103G>A (p.Trp368Ter)
|
rs1556029499
|
|
NM_000444.6(PHEX):c.1134del (p.Ser379fs)
|
rs1556029516
|
|
NM_000444.6(PHEX):c.1137_1138delinsAT (p.Ser379_Arg380delinsArgTrp)
|
rs1556029519
|
|
NM_000444.6(PHEX):c.118+1G>T
|
rs1131691731
|
|
NM_000444.6(PHEX):c.119-3C>G
|
rs1556012055
|
|
NM_000444.6(PHEX):c.1216T>C (p.Cys406Arg)
|
rs1556030465
|
|
NM_000444.6(PHEX):c.1269del (p.Asp424fs)
|
rs1556030487
|
|
NM_000444.6(PHEX):c.1297G>T (p.Glu433Ter)
|
rs1556030502
|
|
NM_000444.6(PHEX):c.1303-1G>C
|
rs1556036014
|
|
NM_000444.6(PHEX):c.1303-2A>G
|
|
|
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg)
|
rs1085308012
|
|
NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter)
|
rs886041359
|
|
NM_000444.6(PHEX):c.1404G>C (p.Lys468Asn)
|
rs754449807
|
|
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu)
|
rs375593493
|
|
NM_000444.6(PHEX):c.142C>T (p.Gln48Ter)
|
rs202074612
|
|
NM_000444.6(PHEX):c.1482+5G>C
|
rs1269067103
|
|
NM_000444.6(PHEX):c.1483-2A>G
|
rs1556070724
|
|
NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro)
|
rs1556070890
|
|
NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter)
|
rs886041361
|
|
NM_000444.6(PHEX):c.1560del (p.Trp520fs)
|
rs1556071086
|
|
NM_000444.6(PHEX):c.1568_1569insT (p.Lys523fs)
|
rs1556071123
|
|
NM_000444.6(PHEX):c.1572dup (p.Val525fs)
|
rs1556071138
|
|
NM_000444.6(PHEX):c.1586+1G>A
|
rs1064796928
|
|
NM_000444.6(PHEX):c.1586+3_1586+6del
|
rs886042234
|
|
NM_000444.6(PHEX):c.1587-2145_1645+3342del
|
|
|
NM_000444.6(PHEX):c.1590G>C (p.Trp530Cys)
|
rs1556091855
|
|
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu)
|
rs886041363
|
|
NM_000444.6(PHEX):c.1645+1G>A
|
rs886041225
|
|
NM_000444.6(PHEX):c.1649_1650del (p.Phe550fs)
|
rs1556128043
|
|
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter)
|
rs137853271
|
|
NM_000444.6(PHEX):c.1700+2T>C
|
rs1556128253
|
|
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro)
|
rs1556135242
|
|
NM_000444.6(PHEX):c.1718C>A (p.Ala573Asp)
|
rs1556135308
|
|
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg)
|
rs875989883
|
|
NM_000444.6(PHEX):c.1735G>C (p.Gly579Arg)
|
rs875989883
|
|
NM_000444.6(PHEX):c.1753G>A (p.Gly585Arg)
|
rs1556135467
|
|
NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu)
|
rs1556135477
|
|
NM_000444.6(PHEX):c.1763A>G (p.Asn588Ser)
|
rs772130004
|
|
NM_000444.6(PHEX):c.1768+1G>A
|
rs886041296
|
|
NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter)
|
rs1556138407
|
|
NM_000444.6(PHEX):c.1779_1782dup (p.Lys595Ter)
|
rs886041364
|
|
NM_000444.6(PHEX):c.181G>T (p.Glu61Ter)
|
rs770630990
|
|
NM_000444.6(PHEX):c.1832_1833del (p.Lys610_Phe611insTer)
|
rs1556138590
|
|
NM_000444.6(PHEX):c.187+1G>T
|
rs1556012100
|
|
NM_000444.6(PHEX):c.187+1del
|
rs1556012094
|
|
NM_000444.6(PHEX):c.1885_1888dup (p.Ala630fs)
|
rs1556138742
|
|
NM_000444.6(PHEX):c.1899+2113_1957del
|
|
|
NM_000444.6(PHEX):c.1910dup (p.Arg638fs)
|
rs1556148392
|
|
NM_000444.6(PHEX):c.1936G>C (p.Asp646His)
|
rs1556148532
|
|
NM_000444.6(PHEX):c.1952G>C (p.Arg651Pro)
|
rs748792378
|
|
NM_000444.6(PHEX):c.1965+1G>A
|
rs1240767654
|
|
NM_000444.6(PHEX):c.1971C>G (p.Tyr657Ter)
|
rs1556151071
|
|
NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter)
|
rs886041369
|
|
NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter)
|
rs1556151137
|
|
NM_000444.6(PHEX):c.2044C>T (p.Gln682Ter)
|
rs1556151545
|
|
NM_000444.6(PHEX):c.2071-1G>A
|
rs886041374
|
|
NM_000444.6(PHEX):c.2078G>A (p.Cys693Tyr)
|
rs1556200989
|
|
NM_000444.6(PHEX):c.2093del (p.Pro698fs)
|
rs1556201034
|
|
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter)
|
rs886041226
|
|
NM_000444.6(PHEX):c.2147+3A>T
|
rs1556201217
|
|
NM_000444.6(PHEX):c.2148-2A>G
|
rs1556205815
|
|
NM_000444.6(PHEX):c.2193del (p.Phe731fs)
|
rs886041631
|
|
NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser)
|
rs1057517981
|
|
NM_000444.6(PHEX):c.2199_2217dup (p.Asn740fs)
|
rs1556206093
|
|
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)
|
rs886041227
|
|
NM_000444.6(PHEX):c.2239_*2del (p.Arg747fs)
|
rs1556206335
|
|
NM_000444.6(PHEX):c.2245T>C (p.Trp749Arg)
|
rs1556206403
|
|
NM_000444.6(PHEX):c.230G>T (p.Cys77Phe)
|
rs1556014263
|
|
NM_000444.6(PHEX):c.253T>C (p.Cys85Arg)
|
rs1556014287
|
|
NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn)
|
rs1556020460
|
|
NM_000444.6(PHEX):c.424del (p.Cys142fs)
|
rs1556020474
|
|
NM_000444.6(PHEX):c.436+6T>C
|
rs1556020485
|
|
NM_000444.6(PHEX):c.467T>C (p.Leu156Pro)
|
rs1556020752
|
|
NM_000444.6(PHEX):c.546_549del (p.Arg183fs)
|
rs1556020798
|
|
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter)
|
rs770573978
|
|
NM_000444.6(PHEX):c.591A>G (p.Gln197=)
|
rs1556020818
|
|
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter)
|
rs771208171
|
|
NM_000444.6(PHEX):c.679C>A (p.Leu227Ile)
|
rs1556023495
|
|
NM_000444.6(PHEX):c.682_683del (p.Ser228fs)
|
rs1064793956
|
|
NM_000444.6(PHEX):c.704del (p.Tyr235fs)
|
rs1556023503
|
|
NM_000444.6(PHEX):c.707T>C (p.Leu236Pro)
|
rs1556023505
|
|
NM_000444.6(PHEX):c.732+5G>A
|
rs1556023528
|
|
NM_000444.6(PHEX):c.732+5G>C
|
rs1556023528
|
|
NM_000444.6(PHEX):c.78dup (p.Val27fs)
|
rs1556010757
|
|
NM_000444.6(PHEX):c.832G>T (p.Glu278Ter)
|
rs1556024541
|
|
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter)
|
rs866429868
|
|
NM_000444.6(PHEX):c.933+1G>T
|
rs1556025314
|
|
NM_000444.6(PHEX):c.934-3_934-1delinsTCA
|
rs1556025936
|
|
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del)
|
rs1556025968
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000466.3(PEX1):c.3579del (p.Asp1194fs)
|
rs1554366802
|
|
NM_000475.5(NR0B1):c.0_1168+260del
|
|
|
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe)
|
rs386134263
|
|
NM_000475.5(NR0B1):c.1169-112_*17delinsTG
|
rs1555972632
|
|
NM_000475.5(NR0B1):c.1169-1G>A
|
rs1555972666
|
|
NM_000475.5(NR0B1):c.1234_1235del (p.Leu411_Ser412insTer)
|
rs1555972655
|
|
NM_000475.5(NR0B1):c.315G>A (p.Trp105Ter)
|
rs132630327
|
|
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter)
|
rs1555973172
|
|
NM_000475.5(NR0B1):c.515G>A (p.Trp172Ter)
|
rs1555973132
|
|
NM_000475.5(NR0B1):c.543del (p.Gly183fs)
|
rs1555973120
|
|
NM_000475.5(NR0B1):c.545_546insCCCA (p.Gly183fs)
|
rs1555973119
|
|
NM_000475.5(NR0B1):c.548dup (p.Gly183_Lys184insTer)
|
rs1555973117
|
|
NM_000475.5(NR0B1):c.551_552del (p.Lys184fs)
|
rs1555973115
|
|
NM_000475.5(NR0B1):c.638_654delinsCATC (p.Leu213fs)
|
rs1555973091
|
|
NM_000475.5(NR0B1):c.652dup (p.Thr218fs)
|
rs1555973092
|
|
NM_000475.5(NR0B1):c.765C>A (p.Cys255Ter)
|
rs1311271225
|
|
NM_000475.5(NR0B1):c.773C>A (p.Ala258Asp)
|
rs1555973058
|
|
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)
|
rs104894888
|
|
NM_000475.5(NR0B1):c.822C>A (p.Cys274Ter)
|
rs753734546
|
|
NM_000475.5(NR0B1):c.844C>T (p.Gln282Ter)
|
rs1555973031
|
|
NM_000475.5(NR0B1):c.871T>C (p.Trp291Arg)
|
rs1555973021
|
|
NM_000475.5(NR0B1):c.872G>C (p.Trp291Ser)
|
rs1489209061
|
|
NM_000484.4(APP):c.2149G>T (p.Val717Phe)
|
rs63750264
|
|
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)
|
rs74315471
|
|
NM_000487.6(ARSA):c.917C>T (p.Thr306Met)
|
rs199476359
|
|
NM_000487.6(ARSA):c.929G>T (p.Gly310Val)
|
rs199476356
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000503.6(EYA1):c.1361-1G>A
|
rs397517917
|
|
NM_000503.6(EYA1):c.678C>A (p.Tyr226Ter)
|
rs529483320
|
|
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter)
|
rs1816578250
|
|
NM_000507.4(FBP1):c.881G>A (p.Gly294Glu)
|
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
NM_000529.2(MC2R):c.424G>T (p.Val142Leu)
|
rs199950178
|
|
NM_000529.2(MC2R):c.459dup (p.Ile154fs)
|
rs1555619430
|
|
NM_000529.2(MC2R):c.674T>G (p.Leu225Arg)
|
rs1555619377
|
|
NM_000529.2(MC2R):c.702del (p.Phe235fs)
|
rs1555619372
|
|
NM_000530.8(MPZ):c.558del (p.Arg186fs)
|
rs1553259568
|
|
NM_000533.5(PLP1):c.817C>T (p.Arg273Ter)
|
rs1556273167
|
|
NM_000540.3(RYR1):c.10347+1G>A
|
rs111436401
|
|
NM_000540.3(RYR1):c.2427_2446dup (p.Pro816fs)
|
rs1460246826
|
|
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met)
|
rs118192176
|
|
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)
|
rs118192123
|
|
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg)
|
rs1801086
|
|
NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter)
|
rs1568510406
|
|
NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs)
|
rs766191969
|
|
NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter)
|
rs45515894
|
|
NM_000548.5(TSC2):c.4129C>T (p.Gln1377Ter)
|
rs45517329
|
|
NM_000642.3(AGL):c.24_25del (p.Ile9fs)
|
rs1648909681
|
|
NM_000701.8(ATP1A1):c.299_313del (p.Phe100_Leu104del)
|
rs724160008
|
|
NM_000701.8(ATP1A1):c.311T>G (p.Leu104Arg)
|
rs11540945
|
|
NM_000701.8(ATP1A1):c.995T>G (p.Val332Gly)
|
rs724160010
|
|
NM_000702.4(ATP1A2):c.2501G>A (p.Arg834Gln)
|
rs2101995864
|
|
NM_000782.5(CYP24A1):c.425AAG[1] (p.Glu143del)
|
rs777676129
|
|
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn)
|
rs886037938
|
|
NM_000996.4(RPL35A):c.258del (p.Lys87fs)
|
rs1581106084
|
|
NM_001001344.3(ATP2B3):c.1272_1277del (p.Leu425_Val426del)
|
rs724160009
|
|
NM_001001344.3(ATP2B3):c.1273_1278del (p.Leu425_Val426del)
|
rs724160011
|
|
NM_001001344.3(ATP2B3):c.1277_1282del (p.Val426_Val427del)
|
rs724160012
|
|
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter)
|
rs397517001
|
|
NM_001005273.3(CHD3):c.1652_1653del (p.Phe551fs)
|
|
|
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln)
|
rs1567861501
|
|
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro)
|
rs1567861571
|
|
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)
|
rs121909092
|
|
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs)
|
rs1833438306
|
|
NM_001008537.3(NEXMIF):c.2683del (p.Ser895fs)
|
rs2080105696
|
|
NM_001012339.3(DNAJC21):c.647_666del (p.Arg216fs)
|
rs1580526958
|
|
NM_001013663.2(PTRHD1):c.155G>A (p.Cys52Tyr)
|
rs781442277
|
|
NM_001015877.2(PHF6):c.29_30dup (p.Pro11fs)
|
rs1556013203
|
|
NM_001029896.2(WDR45):c.371_372del (p.Tyr124fs)
|
rs2065038463
|
|
NM_001029896.2(WDR45):c.827+1G>A
|
rs1557083958
|
|
NM_001031689.3(PLAA):c.240_241insTAG (p.Pro81Ter)
|
rs1587185107
|
|
NM_001031726.4(C19orf12):c.164_166delGGG
|
rs398122409
|
|
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)
|
rs886041246
|
|
NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter)
|
rs1588341629
|
|
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)
|
rs1841141204
|
|
NM_001032382.2(PQBP1):c.599_600del (p.Glu200fs)
|
rs1602332039
|
|
NM_001037333.3(CYFIP2):c.1363G>C (p.Ala455Pro)
|
rs1760440801
|
|
NM_001037333.3(CYFIP2):c.2095G>C (p.Asp699His)
|
rs1581069143
|
|
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)
|
rs1131692231
|
|
NM_001039591.3(USP9X):c.4756del (p.Ala1587fs)
|
rs1555930128
|
|
NM_001040142.2(SCN2A):c.2635G>A (p.Gly879Arg)
|
rs796053115
|
|
NM_001040142.2(SCN2A):c.2687C>T (p.Ala896Val)
|
rs1057519526
|
|
NM_001040142.2(SCN2A):c.304C>T (p.Arg102Ter)
|
rs387906683
|
|
NM_001040142.2(SCN2A):c.3703C>T (p.Arg1235Ter)
|
rs1085307500
|
|
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln)
|
rs796053155
|
|
NM_001040716.2(PC):c.449_451dup (p.Gly150dup)
|
rs1946724126
|
|
NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)
|
rs772470710
|
|
NM_001042492.3(NF1):c.226G>T (p.Glu76Ter)
|
|
|
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)
|
rs137854562
|
|
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=)
|
rs1597722611
|
|
NM_001042492.3(NF1):c.4818_4822del (p.Phe1606fs)
|
rs1555619413
|
|
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)
|
rs1135402900
|
|
NM_001042750.2(STAG2):c.3097C>T (p.Arg1033Ter)
|
rs1569520709
|
|
NM_001042750.2(STAG2):c.352dup (p.Ile118fs)
|
rs1602977573
|
|
NM_001077365.2(POMT1):c.1921C>T (p.Leu641Phe)
|
rs777437871
|
|
NM_001079668.3(NKX2-1):c.250C>T (p.Gln84Ter)
|
|
|
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs)
|
rs1555349214
|
|
NM_001079872.2(CUL4B):c.2264_2265dup (p.Glu756Ter)
|
|
|
NM_001080517.3(SETD5):c.1566del (p.Phe522fs)
|
rs1575466399
|
|
NM_001080517.3(SETD5):c.2154del (p.Val719fs)
|
rs1575475764
|
|
NM_001080517.3(SETD5):c.2302C>T (p.Arg768Ter)
|
rs864321657
|
|
NM_001083619.3(GRIA2):c.1589_1619dup (p.Asp540delinsGluValGlnThrArgSerValPheLeuSerTer)
|
|
|
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln)
|
rs121909121
|
|
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs)
|
rs398123561
|
|
NM_001083962.2(TCF4):c.795T>A (p.Tyr265Ter)
|
rs1600865932
|
|
NM_001085487.3(MYSM1):c.869C>G (p.Ser290Ter)
|
rs1569770360
|
|
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile)
|
rs1554042050
|
|
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter)
|
rs1558081664
|
|
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu)
|
rs748592740
|
|
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp)
|
rs104894003
|
|
NM_001101.5(ACTB):c.625G>A (p.Val209Met)
|
rs587779777
|
|
NM_001101.5(ACTB):c.628C>T (p.Arg210Cys)
|
rs1584261979
|
|
NM_001110556.2(FLNA):c.5363_5369del (p.Leu1788fs)
|
|
|
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu)
|
rs28935469
|
|
NM_001110556.2(FLNA):c.7021C>T (p.Gln2341Ter)
|
rs1603358919
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)
|
rs398122822
|
|
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)
|
rs121912678
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)
|
rs1060501410
|
|
NM_001123385.2(BCOR):c.2983C>T (p.Gln995Ter)
|
|
|
NM_001123385.2(BCOR):c.4981C>T (p.Arg1661Ter)
|
rs755680047
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)
|
rs2056767062
|
|
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter)
|
rs1555738369
|
|
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)
|
rs1745753552
|
|
NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter)
|
rs1049618423
|
|
NM_001127898.4(CLCN5):c.575G>A (p.Trp192Ter)
|
rs1557192084
|
|
NM_001128.6(AP1G1):c.44G>A (p.Arg15Gln)
|
rs2145525235
|
|
NM_001128126.3(AP4S1):c.138+3_138+6del
|
rs876661295
|
|
NM_001130144.3(LTBP3):c.3912A>T (p.Ter1304Cys)
|
rs1554971742
|
|
NM_001130987.2(DYSF):c.3298G>T (p.Glu1100Ter)
|
|
|
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr)
|
rs1064796608
|
|
NM_001134673.4(NFIA):c.28-2A>G
|
rs1646253231
|
|
NM_001134831.2(AHI1):c.2266+1G>A
|
|
|
NM_001135254.2(PAX7):c.86-1G>A
|
rs1570098248
|
|
NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg)
|
rs2148705154
|
|
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3])
|
rs587776992
|
|
NM_001163435.3(TBCK):c.1878G>T (p.Trp626Cys)
|
rs1579198447
|
|
NM_001163435.3(TBCK):c.1880T>G (p.Phe627Cys)
|
rs1579198426
|
|
NM_001164508.2(NEB):c.19800C>G (p.Tyr6600Ter)
|
rs552379239
|
|
NM_001164508.2(NEB):c.20808T>A (p.Tyr6936Ter)
|
rs753417634
|
|
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)
|
rs781667543
|
|
NM_001165963.4(SCN1A):c.2758_2759del (p.Val920fs)
|
rs1574182550
|
|
NM_001165963.4(SCN1A):c.4279C>T (p.Gln1427Ter)
|
|
|
NM_001165963.4(SCN1A):c.4620_4627del (p.Arg1540fs)
|
|
|
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)
|
rs121917980
|
|
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)
|
rs794726739
|
|
NM_001165963.4(SCN1A):c.602+1G>A
|
|
|
NM_001165963.4(SCN1A):c.801del (p.Gln267fs)
|
|
|
NM_001165963.4(SCN1A):c.842C>G (p.Pro281Arg)
|
rs796052964
|
|
NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu)
|
rs1599305317
|
|
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)
|
rs606231167
|
|
NM_001170629.2(CHD8):c.6730C>T (p.Arg2244Ter)
|
rs1555313027
|
|
NM_001172509.2(SATB2):c.1103_1106del (p.Val368fs)
|
rs1574532220
|
|
NM_001172509.2(SATB2):c.225T>A (p.Tyr75Ter)
|
rs1357010510
|
|
NM_001172509.2(SATB2):c.553_554insT (p.Glu185fs)
|
rs1574566833
|
|
NM_001174147.2(LMX1B):c.706G>C (p.Ala236Pro)
|
rs1588307140
|
|
NM_001174147.2(LMX1B):c.917_926del (p.Met306fs)
|
rs1588309269
|
|
NM_001174147.2(LMX1B):c.932del (p.Pro311fs)
|
rs1588309293
|
|
NM_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu)
|
rs121918234
|
|
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu)
|
rs121918235
|
|
NM_001177316.2(SLC34A3):c.1402C>T (p.Arg468Trp)
|
rs121918238
|
|
NM_001177316.2(SLC34A3):c.1561dup (p.Leu521fs)
|
rs765816079
|
|
NM_001177316.2(SLC34A3):c.1639_1652del (p.Arg547fs)
|
rs1554785389
|
|
NM_001177316.2(SLC34A3):c.575C>G (p.Ser192Trp)
|
rs199690076
|
|
NM_001177316.2(SLC34A3):c.908del (p.Pro303fs)
|
rs794729658
|
|
NM_001177316.2(SLC34A3):c.925+20_926-48del
|
rs1554784044
|
|
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly)
|
rs1670355281
|
|
NM_001190274.2(FBXO11):c.802-1G>A
|
rs1672424005
|
|
NM_001197104.2(KMT2A):c.1844del (p.Pro615fs)
|
rs1591374984
|
|
NM_001197104.2(KMT2A):c.3157-7_3161del
|
rs1591379711
|
|
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter)
|
rs886041856
|
|
NM_001197104.2(KMT2A):c.5168dup (p.Tyr1723Ter)
|
|
|
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu)
|
rs765965968
|
|
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser)
|
rs397514713
|
|
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)
|
rs886039323
|
|
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)
|
rs1554389088
|
|
NM_001242896.3(DEPDC5):c.546G>A (p.Trp182Ter)
|
|
|
NM_001244008.2(KIF1A):c.1214dup (p.Asn405fs)
|
rs1575600733
|
|
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)
|
rs879253888
|
|
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)
|
rs1131690804
|
|
NM_001256447.2(BCAP31):c.365_366del (p.Leu122fs)
|
rs1557047954
|
|
NM_001256864.2(DNAJC6):c.988C>T (p.Arg330Ter)
|
rs1645867120
|
|
NM_001258392.3(CLPB):c.1588G>A (p.Gly530Arg)
|
rs2135485868
|
|
NM_001260.3(CDK8):c.185C>T (p.Ser62Leu)
|
rs1565977796
|
|
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)
|
rs281864928
|
|
NM_001271.4(CHD2):c.1396C>T (p.Arg466Ter)
|
rs398123000
|
|
NM_001277062.2(MFF):c.375_376del (p.Glu127fs)
|
rs879255690
|
|
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs)
|
rs1554215986
|
|
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala)
|
rs398123060
|
|
NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter)
|
rs1554222122
|
|
NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp)
|
rs202134424
|
|
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala)
|
rs200930463
|
|
NM_001291415.2(KDM6A):c.140A>G (p.Glu47Gly)
|
rs2031089646
|
|
NM_001292034.3(TAB2):c.1321C>T (p.Arg441Ter)
|
rs1554263321
|
|
NM_001292034.3(TAB2):c.622_626del (p.Pro208fs)
|
rs1781486601
|
|
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys)
|
rs1555938796
|
|
NM_001305563.2(TXNL4A):c.[-60-10561del];[-60-10913_-60-10880del]
|
|
|
NM_001305563.2(TXNL4A):c.[-60-10655C>T];[-60-10913_-60-10880del]
|
|
|
NM_001305563.2(TXNL4A):c.[-60-10913_-60-10880del];[136G>T]
|
|
|
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)
|
rs1567203083
|
|
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys)
|
rs1567214097
|
|
NM_001320.7(CSNK2B):c.304C>T (p.Gln102Ter)
|
rs1802001080
|
|
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val)
|
rs2142884433
|
|
NM_001321075.3(DLG4):c.981_982dup (p.Val328fs)
|
|
|
NM_001321120.2(TBX4):c.281+1G>T
|
rs1555881112
|
|
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val)
|
rs727502788
|
|
NM_001323289.2(CDKL5):c.453del (p.Cys152fs)
|
rs1555949763
|
|
NM_001323289.2(CDKL5):c.630_631del (p.Leu210fs)
|
|
|
NM_001323289.2(CDKL5):c.968T>A (p.Leu323Ter)
|
|
|
NM_001326342.2(CELF2):c.1562dup (p.Tyr521Ter)
|
rs2132786873
|
|
NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly)
|
rs1057519540
|
|
NM_001330311.2(DVL1):c.1547del (p.Thr516fs)
|
rs1569684523
|
|
NM_001346249.2(RALGAPA1):c.1126C>T (p.Arg376Ter)
|
rs1595416752
|
|
NM_001346249.2(RALGAPA1):c.4745A>G (p.Asn1582Ser)
|
rs1595085511
|
|
NM_001346249.2(RALGAPA1):c.610G>T (p.Glu204Ter)
|
rs1595446167
|
|
NM_001346249.2(RALGAPA1):c.6510del (p.Phe2170fs)
|
rs1594878619
|
|
NM_001346249.2(RALGAPA1):c.7250C>G (p.Ser2417Ter)
|
rs1594642302
|
|
NM_001347721.2(DYRK1A):c.1336del (p.Leu446fs)
|
|
|
NM_001347721.2(DYRK1A):c.1378C>T (p.Gln460Ter)
|
rs1555990955
|
|
NM_001347721.2(DYRK1A):c.1635_1636del (p.His545fs)
|
rs1601319352
|
|
NM_001349206.2(LPIN1):c.942del (p.Pro315fs)
|
rs1572770217
|
|
NM_001349338.3(FOXP1):c.1426_1428+1del
|
rs1575803923
|
|
NM_001353921.2(ARHGEF9):c.402+1G>C
|
|
|
NM_001353921.2(ARHGEF9):c.813_814del (p.His271fs)
|
|
|
NM_001356.5(DDX3X):c.1148C>G (p.Ala383Gly)
|
rs1602134248
|
|
NM_001356.5(DDX3X):c.1316-2A>G
|
rs1602135698
|
|
NM_001356.5(DDX3X):c.780T>G (p.Tyr260Ter)
|
rs2063889019
|
|
NM_001356.5(DDX3X):c.841C>T (p.Gln281Ter)
|
rs2147353543
|
|
NM_001356.5(DDX3X):c.977G>A (p.Arg326His)
|
rs797045025
|
|
NM_001365536.1(SCN9A):c.4364del (p.Val1455fs)
|
rs1553478584
|
|
NM_001365902.3(NFIX):c.346C>T (p.Arg116Trp)
|
rs1555696603
|
|
NM_001367873.1(SOX6):c.2077C>T (p.Arg693Ter)
|
rs2119818223
|
|
NM_001368809.2(AMPD2):c.2165T>G (p.Leu722Arg)
|
rs1553230375
|
|
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp)
|
rs757259413
|
|
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp)
|
rs797044854
|
|
NM_001370658.1(BTD):c.772C>G (p.Leu258Val)
|
rs397514388
|
|
NM_001371623.1(TCOF1):c.1639_1640del (p.Ser547fs)
|
rs587776583
|
|
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp)
|
rs1554093891
|
|
NM_001371928.1(AHDC1):c.1519A>T (p.Lys507Ter)
|
rs1553159383
|
|
NM_001371928.1(AHDC1):c.3182del (p.Ser1061fs)
|
|
|
NM_001371928.1(AHDC1):c.3623G>A (p.Trp1208Ter)
|
rs1571229515
|
|
NM_001371986.1(UNC80):c.7700_7701del (p.Thr2567fs)
|
rs1575147319
|
|
NM_001371986.1(UNC80):c.8771_8772del (p.Lys2924fs)
|
rs1553621490
|
|
NM_001372066.1(TFAP2A):c.752T>C (p.Leu251Pro)
|
rs1581262652
|
|
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly)
|
rs121909574
|
|
NM_001374736.1(DST):c.5850del (p.Pro1950_Val1951insTer)
|
|
|
NM_001374828.1(ARID1B):c.1870C>T (p.Gln624Ter)
|
rs754167205
|
|
NM_001374828.1(ARID1B):c.3312dup (p.Glu1105fs)
|
rs1791918216
|
|
NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter)
|
rs773740590
|
|
NM_001374828.1(ARID1B):c.6623_6650dup (p.Asn2217_Asn2218insProLeuTer)
|
rs1554237992
|
|
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter)
|
rs1554238072
|
|
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn)
|
rs1568763104
|
|
NM_001377265.1(MAPT):c.2078C>T (p.Pro693Leu)
|
rs63751273
|
|
NM_001377265.1(MAPT):c.2091+16C>T
|
rs63751011
|
|
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe)
|
rs63750635
|
|
NM_001377265.1(MAPT):c.2184G>C (p.Gln728His)
|
rs1598408073
|
|
NM_001378120.1(MBD5):c.397+2T>C
|
|
|
NM_001378418.1(TCF20):c.2200G>T (p.Gly734Ter)
|
rs1921197915
|
|
NM_001378418.1(TCF20):c.4441_4444dup (p.Ser1482fs)
|
rs1601593180
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378454.1(ALMS1):c.9540-2A>G
|
|
|
NM_001378457.1(DMXL2):c.7521-1G>A
|
rs1595908479
|
|
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)
|
rs1571636501
|
|
NM_001379110.1(SLC9A6):c.1599_1603del (p.Arg534fs)
|
rs1603219805
|
|
NM_001379228.1(MRAP):c.1A>G (p.Met1Val)
|
rs1555897462
|
|
NM_001379659.1(ZNF142):c.1417_1418del (p.Lys473fs)
|
rs1447313633
|
|
NM_001379659.1(ZNF142):c.1892del (p.Cys631fs)
|
rs1559296368
|
|
NM_001385079.1(PDE10A):c.1799T>G (p.Phe600Cys)
|
rs1554258695
|
|
NM_001386393.1(PANK2):c.755_758del (p.Tyr252fs)
|
rs1600542260
|
|
NM_001386393.1(PANK2):c.756C>A (p.Tyr252Ter)
|
rs1600542275
|
|
NM_001395891.1(CLASP1):c.196-570C>T
|
rs750325275
|
|
NM_001399.5(EDA):c.865del (p.Arg289fs)
|
|
|
NM_001457.4(FLNB):c.1082G>A (p.Gly361Asp)
|
rs794727854
|
|
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter)
|
rs80356517
|
|
NM_001457.4(FLNB):c.5555-5_5561del
|
rs1575457582
|
|
NM_001555.5(IGSF1):c.2407dup (p.His803fs)
|
rs1603404297
|
|
NM_001613.4(ACTA2):c.536G>A (p.Arg179His)
|
rs387906592
|
|
NM_001690.4(ATP6V1A):c.955C>T (p.Pro319Ser)
|
rs2108034196
|
|
NM_001696.4(ATP6V1E1):c.634C>T (p.Arg212Trp)
|
rs1028534806
|
|
NM_001697.3(ATP5PO):c.329-20A>G
|
|
|
NM_001697.3(ATP5PO):c.34C>T (p.Gln12Ter)
|
|
|
NM_001743.6(CALM2):c.396T>G (p.Asp132Glu)
|
rs398124648
|
|
NM_001743.6(CALM2):c.414C>G (p.Asn138Lys)
|
rs1553431702
|
|
NM_001844.5(COL2A1):c.1979G>A (p.Gly660Glu)
|
rs1555166729
|
|
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)
|
rs367806541
|
|
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)
|
rs121912874
|
|
NM_001844.5(COL2A1):c.3598-1G>A
|
rs1592196867
|
|
NM_001845.6(COL4A1):c.1353dup (p.Gly452fs)
|
rs1594568948
|
|
NM_001845.6(COL4A1):c.155G>A (p.Gly52Asp)
|
|
|
NM_001845.6(COL4A1):c.1947_1959del (p.Ala650fs)
|
|
|
NM_001845.6(COL4A1):c.4020dup (p.Gly1341fs)
|
|
|
NM_001845.6(COL4A1):c.625G>A (p.Gly209Ser)
|
|
|
NM_001845.6(COL4A1):c.921dup (p.Gly308fs)
|
rs1594579579
|
|
NM_001854.4(COL11A1):c.3816+1G>A
|
rs398122828
|
|
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr)
|
rs1553518389
|
|
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter)
|
rs397514554
|
|
NM_001904.4(CTNNB1):c.1900G>T (p.Glu634Ter)
|
rs1575334103
|
|
NM_001904.4(CTNNB1):c.468dup (p.Thr157fs)
|
rs1575316657
|
|
NM_001904.4(CTNNB1):c.999C>G (p.Tyr333Ter)
|
rs778624338
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)
|
|
|
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
|
|
|
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)
|
rs724159947
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002016.2(FLG):c.2929C>T (p.Gln977Ter)
|
rs144419479
|
|
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp)
|
rs121909717
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)
|
rs63751180
|
|
NM_002087.4(GRN):c.146G>A (p.Trp49Ter)
|
rs1598362746
|
|
NM_002087.4(GRN):c.264G>A (p.Glu88=)
|
rs63751166
|
|
NM_002087.4(GRN):c.328C>T (p.Arg110Ter)
|
rs63750411
|
|
NM_002087.4(GRN):c.349+1G>C
|
rs1598363083
|
|
NM_002087.4(GRN):c.424dup (p.Met142fs)
|
rs1598363490
|
|
NM_002087.4(GRN):c.675_676del (p.Ser226fs)
|
rs63751085
|
|
NM_002087.4(GRN):c.709-2A>G
|
rs63750548
|
|
NM_002087.4(GRN):c.709-4_713del
|
rs1598364296
|
|
NM_002087.4(GRN):c.759_760del (p.Cys253_Asp254delinsTer)
|
rs63751035
|
|
NM_002087.4(GRN):c.882T>G (p.Tyr294Ter)
|
rs794729670
|
|
NM_002087.4(GRN):c.918C>A (p.Cys306Ter)
|
rs1598364782
|
|
NM_002181.4(IHH):c.415dup (p.His139fs)
|
|
|
NM_002294.3(LAMP2):c.718C>T (p.Gln240Ter)
|
rs1556101420
|
|
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)
|
rs104894858
|
|
NM_002340.6(LSS):c.304C>G (p.Leu102Val)
|
rs1569039353
|
|
NM_002354.3(EPCAM):c.373_374insC (p.Arg125fs)
|
rs1553342984
|
|
NM_002361.4(MAG):c.1126C>T (p.Gln376Ter)
|
rs2066456693
|
|
NM_002361.4(MAG):c.517_521dup (p.Trp174Ter)
|
rs771777424
|
|
NM_002397.5(MEF2C):c.638-2A>C
|
rs1554102556
|
|
NM_002480.3(PPP1R12A):c.2698C>T (p.Arg900Ter)
|
rs868109198
|
|
NM_002495.4(NDUFS4):c.178-2A>G
|
rs1554059248
|
|
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter)
|
rs104893898
|
|
NM_002495.4(NDUFS4):c.470_471del (p.Lys156_Ser157insTer)
|
rs1554062427
|
|
NM_002585.4(PBX1):c.413_419del (p.Gly138fs)
|
rs1553247020
|
|
NM_002585.4(PBX1):c.661G>T (p.Glu221Ter)
|
rs1571431145
|
|
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp)
|
rs587777396
|
|
NM_002691.4(POLD1):c.1809CTC[1] (p.Ser605del)
|
rs398122386
|
|
NM_002693.3(POLG):c.2515del (p.Ala839fs)
|
rs1596352895
|
|
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer)
|
rs1596348443
|
|
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly)
|
rs1561737008
|
|
NM_002715.4(PPP2CA):c.724C>G (p.Gln242Glu)
|
rs1580636611
|
|
NM_002730.3(PRKACA):c.617T>G (p.Leu206Arg)
|
rs386352352
|
|
NM_002730.4(PRKACA):c.597_599dup (p.Leu199_Cys200insTrp)
|
rs724160013
|
|
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)
|
rs397516792
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)
|
|
|
NM_002816.5(PSMD12):c.148_149del (p.Leu50fs)
|
rs1598574154
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)
|
rs121918470
|
|
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)
|
rs121918453
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
|
rs121918456
|
|
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)
|
rs397507531
|
|
NM_002880.4(RAF1):c.524A>G (p.His175Arg)
|
rs397516822
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
NM_002968.3(SALL1):c.2686_2689dup (p.Val897fs)
|
rs1597228568
|
|
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)
|
rs104894537
|
|
NM_002971.6(SATB1):c.1924C>T (p.Arg642Ter)
|
rs752755275
|
|
NM_003011.4(SET):c.418_419del (p.Ser140fs)
|
rs1589460606
|
|
NM_003042.4(SLC6A1):c.1070C>T (p.Ala357Val)
|
rs1553689859
|
|
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg)
|
rs1131691302
|
|
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu)
|
rs281875188
|
|
NM_003072.5(SMARCA4):c.1675G>A (p.Glu559Lys)
|
rs1600082188
|
|
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys)
|
rs281875227
|
|
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
|
rs875989800
|
|
NM_003106.4(SOX2):c.59dup (p.Gly21fs)
|
rs398122803
|
|
NM_003108.4(SOX11):c.250G>C (p.Gly84Arg)
|
|
|
NM_003108.4(SOX11):c.353A>C (p.Tyr118Ser)
|
rs1572216329
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003128.3(SPTBN1):c.5961+2T>C
|
|
|
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs)
|
rs782289759
|
|
NM_003172.4(SURF1):c.845_846del (p.Ser282fs)
|
rs782316919
|
|
NM_003242.6(TGFBR2):c.1524+1G>A
|
rs727503475
|
|
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)
|
rs727504421
|
|
NM_003285.3(TNR):c.1899del (p.Glu634fs)
|
rs1571360953
|
|
NM_003285.3(TNR):c.207C>G (p.Tyr69Ter)
|
rs1389178206
|
|
NM_003285.3(TNR):c.2713C>T (p.Arg905Ter)
|
rs1287757170
|
|
NM_003285.3(TNR):c.2744_2745del (p.Val915fs)
|
rs1571339601
|
|
NM_003361.4(UMOD):c.317G>A (p.Cys106Tyr)
|
rs398123697
|
|
NM_003361.4(UMOD):c.358T>G (p.Cys120Gly)
|
rs1555487621
|
|
NM_003361.4(UMOD):c.651C>G (p.Cys217Trp)
|
rs1596561934
|
|
NM_003482.4(KMT2D):c.10624C>G (p.Leu3542Val)
|
rs1943099362
|
|
NM_003482.4(KMT2D):c.11093dup (p.Phe3699fs)
|
rs35493001
|
|
NM_003482.4(KMT2D):c.2091dup (p.Thr698fs)
|
rs1938028530
|
|
NM_003482.4(KMT2D):c.3292del (p.Met1098fs)
|
rs1592152233
|
|
NM_003482.4(KMT2D):c.3754C>T (p.Arg1252Ter)
|
rs727503987
|
|
NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter)
|
rs886043414
|
|
NM_003482.4(KMT2D):c.510G>A (p.Gln170=)
|
|
|
NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs)
|
rs1555193738
|
|
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)
|
rs727503909
|
|
NM_003542.4(H4C3):c.274A>C (p.Lys92Gln)
|
rs1763200003
|
|
NM_003571.4(BFSP2):c.449G>A (p.Trp150Ter)
|
|
|
NM_003590.5(CUL3):c.264+2T>G
|
|
|
NM_003601.4(SMARCA5):c.1301_1306del (p.Ile434_Leu435del)
|
|
|
NM_003601.4(SMARCA5):c.2677G>A (p.Glu893Lys)
|
|
|
NM_003638.3(ITGA8):c.2982+2T>C
|
rs587777279
|
|
NM_003647.3(DGKE):c.889-1G>A
|
rs312262696
|
|
NM_003722.5(TP63):c.1790T>C (p.Ile597Thr)
|
rs1577213466
|
|
NM_003791.4(MBTPS1):c.1995C>G (p.Tyr665Ter)
|
rs1273822522
|
|
NM_003793.4(CTSF):c.1247T>C (p.Ile416Thr)
|
rs1565311875
|
|
NM_003919.3(SGCE):c.272T>G (p.Leu91Ter)
|
|
|
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter)
|
rs121908489
|
|
NM_003919.3(SGCE):c.314A>G (p.Gln105Arg)
|
rs1584692239
|
|
NM_003919.3(SGCE):c.619del (p.Arg207fs)
|
rs1554352819
|
|
NM_003919.3(SGCE):c.703dup (p.Cys235fs)
|
|
|
NM_003919.3(SGCE):c.778A>T (p.Lys260Ter)
|
|
|
NM_003919.3(SGCE):c.783dup (p.Phe262fs)
|
rs1189469219
|
|
NM_003919.3(SGCE):c.786del (p.Arg263fs)
|
rs1584546238
|
|
NM_003919.3(SGCE):c.812G>A (p.Cys271Tyr)
|
rs372686312
|
|
NM_003919.3(SGCE):c.898_899del (p.Glu300fs)
|
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004006.3(DMD):c.1292G>A (p.Trp431Ter)
|
rs1556875224
|
|
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)
|
rs104894797
|
|
NM_004055.5(CAPN5):c.865C>T (p.Arg289Trp)
|
rs886041303
|
|
NM_004082.5(DCTN1):c.212G>A (p.Gly71Glu)
|
rs67586389
|
|
NM_004092.4(ECHS1):c.74G>C (p.Arg25Pro)
|
rs1554886769
|
|
NM_004092.4(ECHS1):c.856_857dup (p.Asn286fs)
|
rs1554885530
|
|
NM_004187.5(KDM5C):c.2214C>A (p.Cys738Ter)
|
|
|
NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln)
|
rs869025340
|
|
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)
|
rs180177041
|
|
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)
|
rs180177042
|
|
NM_004341.5(CAD):c.98T>G (p.Met33Arg)
|
rs751610198
|
|
NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp)
|
rs1085307938
|
|
NM_004407.4(DMP1):c.362del (p.Pro121fs)
|
rs587776696
|
|
NM_004415.4(DSP):c.1234C>T (p.Gln412Ter)
|
rs1758912749
|
|
NM_004415.4(DSP):c.1691C>T (p.Thr564Ile)
|
rs606231295
|
|
NM_004425.4(ECM1):c.542_543insAACCAAATCTGAA (p.Cys181Ter)
|
|
|
NM_004429.5(EFNB1):c.451G>A (p.Gly151Ser)
|
rs28936069
|
|
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)
|
rs387907170
|
|
NM_004493.3(HSD17B10):c.388C>T (p.Arg130Cys)
|
rs28935475
|
|
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)
|
rs587777570
|
|
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)
|
|
|
NM_004523.4(KIF11):c.945_946del (p.Lys315fs)
|
|
|
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter)
|
rs1085307639
|
|
NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla)
|
rs193922941
|
|
NM_004646.4(NPHS1):c.3523_3524del (p.Leu1175fs)
|
rs1420307327
|
|
NM_004820.5(CYP7B1):c.1091C>T (p.Ser364Leu)
|
rs770065565
|
|
NM_004826.4(ECEL1):c.2151+2T>A
|
rs762979130
|
|
NM_004855.5(PIGB):c.1611A>G (p.Ile537Met)
|
rs2056056414
|
|
NM_004928.3(CFAP410):c.643-23A>T
|
rs1131690800
|
|
NM_004960.4(FUS):c.1394-2del
|
rs1555509569
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)
|
rs1555889130
|
|
NM_004990.3(MARS):c.[1700C>T;1177G>A]
|
|
|
NM_004990.3(MARS1):c.[1031A>G];[1177G>A[1700C>T]
|
|
|
NM_004990.4(MARS1):c.1814A>T (p.Asp605Val)
|
rs756021768
|
|
NM_005032.7(PLS3):c.216_219del (p.Ser73fs)
|
rs2074664927
|
|
NM_005149.3(TBX19):c.568C>T (p.Gln190Ter)
|
rs1553289042
|
|
NM_005154.3(USP8):c.[2138T>G;2150A>G]
|
|
|
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro)
|
rs672601307
|
|
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del)
|
rs672601306
|
|
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys)
|
rs672601308
|
|
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg)
|
rs672601311
|
|
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)
|
rs267606704
|
|
NM_005236.3(ERCC4):c.2026G>T (p.Glu676Ter)
|
|
|
NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter)
|
rs786204999
|
|
NM_005249.5(FOXG1):c.406G>T (p.Glu136Ter)
|
rs1057520663
|
|
NM_005249.5(FOXG1):c.506del (p.Gly169fs)
|
rs1452295073
|
|
NM_005249.5(FOXG1):c.777del (p.Ser260fs)
|
rs1594383798
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr)
|
rs922847767
|
|
NM_005461.5(MAFB):c.184A>G (p.Thr62Ala)
|
rs387907004
|
|
NM_005506.4(SCARB2):c.134del (p.Asn45fs)
|
rs1578733075
|
|
NM_005518.4(HMGCS2):c.1017-2del
|
rs1553240165
|
|
NM_005518.4(HMGCS2):c.772del (p.Ser258fs)
|
rs1553240525
|
|
NM_005602.6(CLDN11):c.622T>C (p.Ter208Gln)
|
rs2108249442
|
|
NM_005629.4(SLC6A8):c.149dup (p.Pro51fs)
|
|
|
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu)
|
rs397515559
|
|
NM_005629.4(SLC6A8):c.974_975del (p.Thr325fs)
|
rs1060502808
|
|
NM_005687.5(FARSB):c.1202G>A (p.Arg401Gln)
|
rs1553553086
|
|
NM_005687.5(FARSB):c.1381A>C (p.Thr461Pro)
|
rs1396171148
|
|
NM_005687.5(FARSB):c.784A>G (p.Lys262Glu)
|
rs1553554543
|
|
NM_005859.5(PURA):c.366_367dup (p.Gln123fs)
|
rs1554129069
|
|
NM_005859.5(PURA):c.640G>T (p.Glu214Ter)
|
rs1581036558
|
|
NM_005859.5(PURA):c.725dup (p.Phe243fs)
|
rs1554129114
|
|
NM_005861.4(STUB1):c.823dup (p.Leu275fs)
|
rs2039704361
|
|
NM_005916.5(MCM7):c.133C>T (p.Gln45Ter)
|
|
|
NM_005916.5(MCM7):c.776G>C (p.Gly259Ala)
|
rs758105856
|
|
NM_006003.3(UQCRFS1):c.215-1G>C
|
rs1568344751
|
|
NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp)
|
rs1568346416
|
|
NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter)
|
rs1242465339
|
|
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)
|
rs387906930
|
|
NM_006005.3(WFS1):c.2224dup (p.Cys742fs)
|
rs1578612324
|
|
NM_006005.3(WFS1):c.2638_2643del (p.Asp880_Phe881del)
|
rs1272826809
|
|
NM_006009.4(TUBA1A):c.1169G>A (p.Arg390His)
|
rs1064796460
|
|
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile)
|
rs1057517908
|
|
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)
|
rs587777428
|
|
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919
|
|
NM_006208.3(ENPP1):c.2101-2A>T
|
rs1585841844
|
|
NM_006208.3(ENPP1):c.2248dup (p.Ser750fs)
|
rs587776797
|
|
NM_006208.3(ENPP1):c.2444+702_*868del
|
|
|
NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter)
|
rs121918023
|
|
NM_006208.3(ENPP1):c.430+1del
|
rs1554278331
|
|
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val)
|
rs121908248
|
|
NM_006218.4(PIK3CA):c.1346C>T (p.Pro449Leu)
|
|
|
NM_006236.3(POU3F3):c.398_407del (p.Pro133fs)
|
rs1573320043
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr)
|
rs1762178916
|
|
NM_006245.4(PPP2R5D):c.752A>C (p.Asp251Ala)
|
rs1064794719
|
|
NM_006265.3(RAD21):c.3G>A (p.Met1Ile)
|
rs1586276006
|
|
NM_006269.2(RP1):c.3157del (p.Tyr1053fs)
|
rs748709396
|
|
NM_006280.3(SSR4):c.141dup (p.Val48fs)
|
rs2092142348
|
|
NM_006295.3(VARS1):c.181G>T (p.Glu61Ter)
|
rs746631390
|
|
NM_006306.4(SMC1A):c.1785_1788del (p.Ile595fs)
|
rs1602410239
|
|
NM_006306.4(SMC1A):c.3497A>C (p.Asn1166Thr)
|
rs1556885810
|
|
NM_006346.4(PIBF1):c.1801C>T (p.Arg601Ter)
|
rs1594219498
|
|
NM_006397.3(RNASEH2A):c.859T>C (p.Tyr287His)
|
|
|
NM_006494.4(ERF):c.566_567del (p.Asp188_Cys189insTer)
|
rs1555750816
|
|
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser)
|
rs80359812
|
|
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile)
|
rs1057520545
|
|
NM_006516.4(SLC2A1):c.500del (p.Gly167fs)
|
|
|
NM_006516.4(SLC2A1):c.732del (p.Met244fs)
|
rs1553156069
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006521.6(TFE3):c.560C>T (p.Thr187Met)
|
rs2064742925
|
|
NM_006579.3(EBP):c.329G>A (p.Arg110Gln)
|
rs1602090481
|
|
NM_006593.4(TBR1):c.1250C>A (p.Ser417Ter)
|
|
|
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)
|
rs869312704
|
|
NM_006593.4(TBR1):c.1731dup (p.Ala578fs)
|
rs1574152672
|
|
NM_006618.5(KDM5B):c.2830dup (p.Leu944fs)
|
|
|
NM_006744.4(RBP4):c.526G>T (p.Glu176Ter)
|
rs2058283703
|
|
NM_006766.5(KAT6A):c.3306del (p.Lys1103fs)
|
rs1587713892
|
|
NM_006766.5(KAT6A):c.3318_3319insCT (p.Glu1107fs)
|
rs1587713866
|
|
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs)
|
rs1554679889
|
|
NM_006766.5(KAT6A):c.5505_5506del (p.Asn1836fs)
|
|
|
NM_006772.3(SYNGAP1):c.1466_1469del (p.Leu489fs)
|
|
|
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln)
|
rs1057519546
|
|
NM_006852.6(TLK2):c.968+1G>C
|
rs1598620094
|
|
NM_006914.4(RORB):c.357dup (p.Arg120fs)
|
rs1587401875
|
|
NM_006915.3(RP2):c.450G>A (p.Trp150Ter)
|
rs1924906177
|
|
NM_006946.4(SPTBN2):c.5991_5992del (p.Glu1997fs)
|
rs1590911156
|
|
NM_007055.4(POLR3A):c.1051C>T (p.Arg351Ter)
|
rs769791060
|
|
NM_007055.4(POLR3A):c.1771-6C>G
|
rs115020338
|
|
NM_007055.4(POLR3A):c.1771-7C>G
|
rs201314157
|
|
NM_007126.5(VCP):c.464G>A (p.Arg155His)
|
rs121909329
|
|
NM_007241.4(SNF8):c.236C>T (p.Pro79Leu)
|
|
|
NM_007241.4(SNF8):c.304G>A (p.Val102Ile)
|
|
|
NM_007241.4(SNF8):c.423-1G>C
|
|
|
NM_007241.4(SNF8):c.501C>A (p.Tyr167Ter)
|
|
|
NM_007241.4(SNF8):c.572G>A (p.Gly191Asp)
|
|
|
NM_007241.4(SNF8):c.623G>T (p.Arg208Leu)
|
|
|
NM_007241.4(SNF8):c.673_683delinsTGGA (p.Asp225fs)
|
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
NM_007254.4(PNKP):c.1261_1262insGGGTCGCCATCGACAAC (p.Ile421fs)
|
rs1600416052
|
|
NM_007294.4(BRCA1):c.213-12A>G
|
rs80358163
|
|
NM_007327.4(GRIN1):c.1342del (p.Arg448fs)
|
rs1588727276
|
|
NM_007363.5(NONO):c.107del (p.Pro36fs)
|
rs1602385860
|
|
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)
|
rs863223953
|
|
NM_012123.4(MTO1):c.1222A>T (p.Ile408Phe)
|
|
|
NM_012179.4(FBXO7):c.1144+1G>T
|
rs730880272
|
|
NM_012179.4(FBXO7):c.152del (p.Asn51fs)
|
rs1228608709
|
|
NM_012199.5(AGO1):c.650-2A>G
|
rs1645271555
|
|
NM_012330.4(KAT6B):c.3041_3042del (p.Gln1014fs)
|
rs1589824355
|
|
NM_012330.4(KAT6B):c.3477_3480dup (p.Asp1161delinsLeuTer)
|
rs1589831585
|
|
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs)
|
rs199470477
|
|
NM_012330.4(KAT6B):c.4584del (p.Glu1529fs)
|
rs1554845902
|
|
NM_012479.4(YWHAG):c.395G>A (p.Arg132His)
|
rs1583981615
|
|
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del)
|
rs1402092579
|
|
NM_013254.4(TBK1):c.427C>T (p.Arg143Cys)
|
rs1027249002
|
|
NM_013254.4(TBK1):c.86dup (p.Lys30fs)
|
rs1592350883
|
|
NM_013254.4(TBK1):c.87G>A (p.Lys29=)
|
rs1592350887
|
|
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)
|
rs886039734
|
|
NM_013275.6(ANKRD11):c.2273_2274del (p.Leu758fs)
|
rs1597461334
|
|
NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter)
|
rs1597459649
|
|
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter)
|
rs929007085
|
|
NM_013275.6(ANKRD11):c.2826_2829del (p.Arg942fs)
|
rs1597459077
|
|
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter)
|
rs749632782
|
|
NM_013275.6(ANKRD11):c.6807_6808del (p.Ala2270fs)
|
rs1597435393
|
|
NM_014028.4(OSTM1):c.783+5G>T
|
rs1554250938
|
|
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)
|
rs886040971
|
|
NM_014159.7(SETD2):c.5761G>T (p.Glu1921Ter)
|
rs2041433287
|
|
NM_014171.6(CRIPT):c.132del (p.Ala45fs)
|
rs771238795
|
|
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp)
|
rs786205227
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014334.4(FRRS1L):c.283dup (p.Ile95fs)
|
rs878853283
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_014491.4(FOXP2):c.1690C>T (p.Arg564Ter)
|
rs2129341954
|
|
NM_014491.4(FOXP2):c.553C>T (p.Gln185Ter)
|
rs1584969672
|
|
NM_014625.4(NPHS2):c.156del (p.Thr53fs)
|
rs1272948499
|
|
NM_014625.4(NPHS2):c.467dup (p.Leu156fs)
|
rs528833893
|
|
NM_014625.4(NPHS2):c.576_577del (p.Ile192fs)
|
rs1572277600
|
|
NM_014712.3(SETD1A):c.1287dup (p.Ser430fs)
|
rs2056118338
|
|
NM_014712.3(SETD1A):c.4618C>T (p.Gln1540Ter)
|
|
|
NM_014727.3(KMT2B):c.1633C>T (p.Arg545Ter)
|
rs1057519279
|
|
NM_014727.3(KMT2B):c.3335-9_3363del
|
rs1969359289
|
|
NM_014727.3(KMT2B):c.424C>T (p.Arg142Ter)
|
rs748888652
|
|
NM_014727.3(KMT2B):c.4549C>T (p.Arg1517Ter)
|
rs1459799356
|
|
NM_014727.3(KMT2B):c.521dup (p.Thr176fs)
|
rs763183959
|
|
NM_014727.3(KMT2B):c.6406del (p.Leu2136fs)
|
rs1057519278
|
|
NM_014727.3(KMT2B):c.7012del (p.Asp2338fs)
|
|
|
NM_014727.3(KMT2B):c.7050-2A>G
|
rs1057519280
|
|
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)
|
rs587784566
|
|
NM_014795.4(ZEB2):c.425_429del (p.Ser142fs)
|
rs1573722407
|
|
NM_014795.4(ZEB2):c.770_771del (p.Glu257fs)
|
rs1573721065
|
|
NM_014874.4(MFN2):c.839G>A (p.Arg280His)
|
rs28940294
|
|
NM_014946.4(SPAST):c.1169T>A (p.Met390Lys)
|
rs1131691977
|
|
NM_014946.4(SPAST):c.1360G>A (p.Glu454Lys)
|
rs1553318230
|
|
NM_014946.4(SPAST):c.1456A>G (p.Thr486Ala)
|
rs1553318320
|
|
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val)
|
rs1553318347
|
|
NM_014946.4(SPAST):c.1493+2_1493+5del
|
rs1558337180
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter)
|
rs121908518
|
|
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)
|
rs1473613373
|
|
NM_015100.4(POGZ):c.2819_2826del (p.Leu940fs)
|
|
|
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter)
|
rs1553212545
|
|
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)
|
rs1554504663
|
|
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys)
|
rs1563292586
|
|
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)
|
rs1554504681
|
|
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln)
|
rs1554504684
|
|
NM_015215.4(CAMTA1):c.2416_2419del (p.Ser806fs)
|
|
|
NM_015215.4(CAMTA1):c.3585_3592del (p.Trp1197fs)
|
rs2096780961
|
|
NM_015335.5(MED13L):c.747_748del (p.Lys250fs)
|
rs1592953902
|
|
NM_015338.6(ASXL1):c.2036dup (p.Gly680fs)
|
rs1600586587
|
|
NM_015338.6(ASXL1):c.217A>T (p.Lys73Ter)
|
rs1555901138
|
|
NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs)
|
|
|
NM_015355.4(SUZ12):c.1657C>T (p.Gln553Ter)
|
rs1909936773
|
|
NM_015378.4(VPS13D):c.2020C>T (p.Arg674Ter)
|
rs756025227
|
|
NM_015488.5(PNKD):c.26C>T (p.Ala9Val)
|
rs121434511
|
|
NM_015559.3(SETBP1):c.2425C>T (p.Gln809Ter)
|
rs1599368323
|
|
NM_015570.4(AUTS2):c.1547dup (p.Pro517fs)
|
rs1585653028
|
|
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter)
|
rs1554480537
|
|
NM_015836.4(WARS2):c.295CTT[1] (p.Leu100del)
|
rs772867219
|
|
NM_015836.4(WARS2):c.532G>C (p.Val178Leu)
|
rs912133959
|
|
NM_015836.4(WARS2):c.622G>T (p.Glu208Ter)
|
rs137890886
|
|
NM_015836.4(WARS2):c.91-8725_349-3571del
|
|
|
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)
|
rs119476050
|
|
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)
|
rs119476046
|
|
NM_015981.4(CAMK2A):c.666C>A (p.Tyr222Ter)
|
|
|
NM_016038.4(SBDS):c.18del (p.Thr7fs)
|
rs1584439050
|
|
NM_016284.5(CNOT1):c.434-2A>G
|
|
|
NM_016495.6(TBC1D7):c.747dup (p.Val250fs)
|
rs1554192525
|
|
NM_016529.6(ATP8A2):c.691_701del (p.Leu231fs)
|
rs2038491713
|
|
NM_016604.4(KDM3B):c.2828G>A (p.Arg943Gln)
|
rs1334033128
|
|
NM_017613.4(DONSON):c.683G>A (p.Trp228Ter)
|
rs777061964
|
|
NM_017649.5(CNNM2):c.364G>A (p.Glu122Lys)
|
rs786205909
|
|
NM_017714.3(TASP1):c.199C>T (p.Arg67Ter)
|
rs1200336864
|
|
NM_017775.4(TTC19):c.554T>C (p.Leu185Pro)
|
rs1187416161
|
|
NM_017780.4(CHD7):c.1663C>T (p.Gln555Ter)
|
|
|
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter)
|
rs780953224
|
|
NM_017780.4(CHD7):c.2858G>A (p.Trp953Ter)
|
rs1554597465
|
|
NM_017780.4(CHD7):c.5405-7G>A
|
rs398124321
|
|
NM_017780.4(CHD7):c.5680_5681dup (p.Ser1894fs)
|
rs1554603818
|
|
NM_017807.4(OSGEP):c.839G>A (p.Arg280His)
|
rs144732839
|
|
NM_017866.6(TMEM70):c.378dup (p.Thr127fs)
|
rs1554599411
|
|
NM_017946.4(FKBP14):c.636G>C (p.Ter212Tyr)
|
rs1583725395
|
|
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup)
|
rs753112330
|
|
NM_018006.5(TRMU):c.954dup (p.Ala319fs)
|
rs863224242
|
|
NM_018017.4(CCDC186):c.767C>G (p.Ser256Ter)
|
rs2119807637
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018075.5(ANO10):c.1025G>A (p.Trp342Ter)
|
rs1405576707
|
|
NM_018075.5(ANO10):c.1551dup (p.Ala518fs)
|
rs2079693628
|
|
NM_018105.3(THAP1):c.112del (p.Ala38fs)
|
rs1586457084
|
|
NM_018105.3(THAP1):c.11C>T (p.Ser4Phe)
|
|
|
NM_018238.4(AGK):c.298-2A>G
|
rs1554401640
|
|
NM_018294.6(CWF19L1):c.1114C>T (p.Gln372Ter)
|
rs1846512047
|
|
NM_018297.4(NGLY1):c.1264C>T (p.Gln422Ter)
|
rs1575614945
|
|
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)
|
rs765211108
|
|
NM_018684.4(ZC4H2):c.172G>T (p.Glu58Ter)
|
|
|
NM_018684.4(ZC4H2):c.22_23del (p.Met8fs)
|
rs1555945816
|
|
NM_018972.4(GDAP1):c.349dup (p.Tyr117fs)
|
rs1586803063
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter)
|
rs1572040505
|
|
NM_020247.5(COQ8A):c.656-1G>T
|
rs903436781
|
|
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)
|
rs387907208
|
|
NM_020312.4(COQ9):c.521+1del
|
rs786205897
|
|
NM_020320.5(RARS2):c.1237+1G>A
|
rs759922477
|
|
NM_020435.4(GJC2):c.108C>G (p.Ile36Met)
|
rs75469429
|
|
NM_020638.3(FGF23):c.367G>T (p.Gly123Trp)
|
rs1220533001
|
|
NM_020638.3(FGF23):c.385T>C (p.Ser129Pro)
|
rs1555096583
|
|
NM_020638.3(FGF23):c.535C>T (p.Arg179Trp)
|
rs28937882
|
|
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln)
|
rs193922702
|
|
NM_020706.2(SCAF4):c.1295_1296del (p.Arg432fs)
|
|
|
NM_020745.4(AARS2):c.2356G>A (p.Ala786Thr)
|
rs1554147776
|
|
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
|
|
|
NM_020919.4(ALS2):c.3583G>T (p.Gly1195Ter)
|
rs1574698048
|
|
NM_020919.4(ALS2):c.553del (p.Thr185fs)
|
rs386134174
|
|
NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)
|
rs1574787779
|
|
NM_020919.4(ALS2):c.913del (p.Glu304_Leu305insTer)
|
rs1574786641
|
|
NM_020964.3(EPG5):c.1501A>T (p.Lys501Ter)
|
rs1203870830
|
|
NM_020964.3(EPG5):c.1924C>T (p.Arg642Ter)
|
rs912986968
|
|
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
|
|
|
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys)
|
rs886039494
|
|
NM_020988.3(GNAO1):c.626G>A (p.Arg209His)
|
rs797044878
|
|
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg)
|
rs1553851490
|
|
NM_021964.3(ZNF148):c.1630_1631del (p.Leu544fs)
|
rs1579576029
|
|
NM_022101.4(STEEP1):c.492AGAGGA[1] (p.Glu167_Glu168del)
|
rs2053171807
|
|
NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln)
|
rs587777445
|
|
NM_022455.5(NSD1):c.2289_2317dup (p.Ala773delinsValArgThrArgTer)
|
rs1581319867
|
|
NM_022455.5(NSD1):c.3038C>G (p.Ser1013Ter)
|
rs1006906224
|
|
NM_022455.5(NSD1):c.4766-2A>G
|
rs1581457332
|
|
NM_022455.5(NSD1):c.5359A>G (p.Met1787Val)
|
|
|
NM_022575.4(VPS16):c.1335T>G (p.Tyr445Ter)
|
rs374769660
|
|
NM_022575.4(VPS16):c.559C>T (p.Arg187Ter)
|
rs754351705
|
|
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)
|
rs672601359
|
|
NM_023110.3(FGFR1):c.1977+1G>A
|
rs876661334
|
|
NM_024057.4(NUP37):c.225dup (p.Asp76Ter)
|
rs1309880692
|
|
NM_024063.3(AFG2B):c.1090-2A>G
|
rs779907001
|
|
NM_024063.3(AFG2B):c.2176_2177del (p.Val726fs)
|
rs1890710370
|
|
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)
|
rs398124395
|
|
NM_024306.5(FA2H):c.102C>G (p.Tyr34Ter)
|
rs957683798
|
|
NM_024306.5(FA2H):c.786G>A (p.Lys262=)
|
|
|
NM_024339.5(THOC6):c.445C>T (p.Gln149Ter)
|
rs374551434
|
|
NM_024417.5(FDXR):c.332T>C (p.Val111Ala)
|
|
|
NM_024417.5(FDXR):c.564_575del (p.Leu189_Ala192del)
|
|
|
NM_024420.3(PLA2G4A):c.494dup (p.Arg166fs)
|
rs1571392612
|
|
NM_024426.6(WT1):c.1447+4C>T
|
rs587776577
|
|
NM_024496.4(IRF2BPL):c.2135_2136insGT (p.Leu713fs)
|
rs1885090260
|
|
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs)
|
rs1064797314
|
|
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter)
|
rs80338937
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.831-3C>G
|
rs113994179
|
|
NM_024665.7(TBL1XR1):c.799G>T (p.Gly267Cys)
|
rs1577017863
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn)
|
rs2150668444
|
|
NM_024757.5(EHMT1):c.1588C>T (p.Arg530Ter)
|
rs1554871138
|
|
NM_024757.5(EHMT1):c.508del (p.Gln170fs)
|
rs1945392174
|
|
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter)
|
rs398122980
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)
|
rs312262723
|
|
NM_025216.3(WNT10A):c.1199G>A (p.Cys400Tyr)
|
rs1575235227
|
|
NM_030632.3(ASXL3):c.1210C>T (p.Gln404Ter)
|
rs587777061
|
|
NM_030632.3(ASXL3):c.1419dup (p.Pro474fs)
|
|
|
NM_030632.3(ASXL3):c.3494_3495del (p.Asn1164_Cys1165insTer)
|
rs1599571406
|
|
NM_030632.3(ASXL3):c.3827_3830dup (p.Asn1278fs)
|
rs1599572151
|
|
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter)
|
rs1555744282
|
|
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp)
|
rs1057519806
|
|
NM_030665.4(RAI1):c.1069_1070insC (p.Ser357fs)
|
rs1598088235
|
|
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter)
|
rs866294686
|
|
NM_030916.3(NECTIN4):c.229C>T (p.Gln77Ter)
|
rs1571153052
|
|
NM_031229.4(RBCK1):c.896_899del (p.Glu299fs)
|
rs727503764
|
|
NM_031293.3(PMFBP1):c.2278_2281del (p.Lys760fs)
|
rs769554360
|
|
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp)
|
rs121918525
|
|
NM_031418.4(ANO3):c.1528G>A (p.Glu510Lys)
|
rs1590612392
|
|
NM_031448.6(C19orf12):c.105_106del (p.Ala37fs)
|
|
|
NM_031448.6(C19orf12):c.205C>T (p.Gln69Ter)
|
rs1064797235
|
|
NM_031448.6(C19orf12):c.371dup (p.Met124fs)
|
rs1568326754
|
|
NM_031844.3(HNRNPU):c.575C>A (p.Ser192Ter)
|
rs1333692140
|
|
NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter)
|
rs782397980
|
|
NM_032620.4(GTPBP3):c.643G>T (p.Glu215Ter)
|
rs1555726849
|
|
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)
|
rs797044995
|
|
NM_032856.5(WDR73):c.706_719dup (p.Ser240fs)
|
rs1596050297
|
|
NM_032856.5(WDR73):c.766dup (p.Arg256fs)
|
rs727502864
|
|
NM_032861.4(SERAC1):c.1211G>A (p.Gly404Glu)
|
|
|
NM_032888.4(COL27A1):c.3075del (p.Lys1026fs)
|
rs5900078
|
|
NM_032888.4(COL27A1):c.93del (p.Phe32fs)
|
rs1588550383
|
|
NM_032930.3(CFAP300):c.200del (p.Phe67fs)
|
rs745839898
|
|
NM_033380.3(COL4A5):c.1402C>T (p.Gln468Ter)
|
rs1603287820
|
|
NM_033380.3(COL4A5):c.1423G>A (p.Gly475Ser)
|
rs281874667
|
|
NM_033380.3(COL4A5):c.1424-2A>C
|
rs759179999
|
|
NM_033380.3(COL4A5):c.1481del (p.Gly494fs)
|
|
|
NM_033380.3(COL4A5):c.1673G>A (p.Gly558Asp)
|
rs1603290148
|
|
NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser)
|
rs1603290681
|
|
NM_033380.3(COL4A5):c.188dup (p.Phe64fs)
|
rs1603276159
|
|
NM_033380.3(COL4A5):c.1904G>T (p.Gly635Val)
|
rs281874683
|
|
NM_033380.3(COL4A5):c.1976_1977del (p.Ile659fs)
|
rs1603291770
|
|
NM_033380.3(COL4A5):c.2048_2050del (p.Pro683_Gly684delinsArg)
|
rs1603292021
|
|
NM_033380.3(COL4A5):c.225del (p.Gln76fs)
|
rs1603276180
|
|
NM_033380.3(COL4A5):c.2300dup (p.Lys768fs)
|
rs1603293553
|
|
NM_033380.3(COL4A5):c.2314G>A (p.Gly772Ser)
|
rs1603293570
|
|
NM_033380.3(COL4A5):c.2359G>A (p.Gly787Arg)
|
rs1603293605
|
|
NM_033380.3(COL4A5):c.2606G>T (p.Gly869Val)
|
rs1603297334
|
|
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)
|
rs104886221
|
|
NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val)
|
rs281874712
|
|
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)
|
rs104886228
|
|
NM_033380.3(COL4A5):c.367G>A (p.Gly123Arg)
|
rs1569488426
|
|
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)
|
rs1569505771
|
|
NM_033380.3(COL4A5):c.3721G>T (p.Gly1241Cys)
|
rs104886255
|
|
NM_033380.3(COL4A5):c.3772G>A (p.Gly1258Ser)
|
rs1603311030
|
|
NM_033380.3(COL4A5):c.4063del (p.Glu1355fs)
|
rs1556453276
|
|
NM_033380.3(COL4A5):c.4217-1G>A
|
rs587776402
|
|
NM_033380.3(COL4A5):c.446del (p.Pro149fs)
|
rs104886054
|
|
NM_033380.3(COL4A5):c.4470T>G (p.Tyr1490Ter)
|
rs1603323355
|
|
NM_033380.3(COL4A5):c.4543_4544insTTAG (p.Cys1515fs)
|
rs1603326397
|
|
NM_033380.3(COL4A5):c.5038C>T (p.Arg1680Ter)
|
rs281874753
|
|
NM_033380.3(COL4A5):c.546+1G>A
|
rs104886429
|
|
NM_033380.3(COL4A5):c.546+2dup
|
rs1569489353
|
|
NM_033380.3(COL4A5):c.609+1G>A
|
rs104886434
|
|
NM_033380.3(COL4A5):c.611G>A (p.Gly204Asp)
|
rs104886063
|
|
NM_033380.3(COL4A5):c.687del (p.Gly230fs)
|
rs1556405926
|
|
NM_033380.3(COL4A5):c.761_762del (p.Glu254fs)
|
rs104886443
|
|
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg)
|
rs104886088
|
|
NM_033380.3(COL4A5):c.973G>C (p.Gly325Arg)
|
rs104886088
|
|
NM_033453.4(ITPA):c.359_366dup (p.Gly123fs)
|
rs1407446171
|
|
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)
|
rs762292772
|
|
NM_052859.4(RFT1):c.775G>A (p.Gly259Ser)
|
rs1575494302
|
|
NM_052867.4(NALCN):c.1733A>G (p.Tyr578Cys)
|
rs786203988
|
|
NM_052874.5(STX1B):c.165dup (p.Gln56fs)
|
rs1596719437
|
|
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter)
|
rs770780171
|
|
NM_057175.5(NAA15):c.430C>T (p.Arg144Ter)
|
rs1560966086
|
|
NM_058246.4(DNAJB6):c.279C>G (p.Phe93Leu)
|
rs149278319
|
|
NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter)
|
rs1563819620
|
|
NM_078480.3(PUF60):c.712_713del (p.Ser238fs)
|
rs1816555365
|
|
NM_078629.4(MSL3):c.1314C>A (p.Tyr438Ter)
|
rs746387441
|
|
NM_080632.3(UPF3B):c.1351del (p.Arg451fs)
|
rs1556377028
|
|
NM_080632.3(UPF3B):c.575_578del (p.Glu191_Leu192insTer)
|
rs1603371016
|
|
NM_080680.3(COL11A2):c.2087_2090del (p.Glu696fs)
|
rs1583335192
|
|
NM_130466.4(UBE3B):c.2568+1G>A
|
rs1555269815
|
|
NM_130466.4(UBE3B):c.2990G>C (p.Arg997Pro)
|
rs539407162
|
|
NM_130837.3(OPA1):c.1734dup (p.Gln579fs)
|
rs1560377736
|
|
NM_130837.3(OPA1):c.2779-9A>G
|
rs1716524583
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_133259.4(LRPPRC):c.2723AGA[1] (p.Lys909del)
|
rs863225445
|
|
NM_134261.3(RORA):c.867_876dup (p.Glu293fs)
|
rs1595874842
|
|
NM_138459.5(NUS1):c.238_263del (p.Ala80fs)
|
rs1582461267
|
|
NM_138576.4(BCL11B):c.1500dup (p.Gly501fs)
|
rs1595215462
|
|
NM_138576.4(BCL11B):c.2048del (p.Ser683fs)
|
rs1595214071
|
|
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys)
|
rs888230251
|
|
NM_138694.4(PKHD1):c.9182_9183insATTAGTGACA (p.Asn3062fs)
|
rs1582441668
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
NM_139125.4(MASP1):c.518del (p.Ile173fs)
|
rs1579537069
|
|
NM_139242.4(MTFMT):c.91C>T (p.Arg31Ter)
|
rs1555404423
|
|
NM_144643.4(SCLT1):c.1043del (p.Ser348fs)
|
|
|
NM_145207.3(AFG2A):c.700C>T (p.Gln234Ter)
|
rs775269863
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
|
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile)
|
rs557939077
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)
|
rs267606670
|
|
NM_152490.5(B3GALNT2):c.51_73dup (p.Ser25fs)
|
rs367543069
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_152641.4(ARID2):c.1784_1785del (p.His595fs)
|
rs1943504725
|
|
NM_152641.4(ARID2):c.2114del (p.Ser705fs)
|
rs1592118927
|
|
NM_153682.3(PIGP):c.384del (p.Glu129fs)
|
rs778481061
|
|
NM_153704.6(TMEM67):c.579del (p.Gly195fs)
|
rs386834203
|
|
NM_170606.3(KMT2C):c.1951_1952del (p.Glu651fs)
|
rs1588571802
|
|
NM_172107.4(KCNQ2):c.2127del (p.Val710fs)
|
rs118192244
|
|
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)
|
rs727503974
|
|
NM_172107.4(KCNQ2):c.937G>A (p.Gly313Arg)
|
|
|
NM_172362.3(KCNH1):c.1486G>A (p.Gly496Arg)
|
rs730882175
|
|
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
|
NM_175748.4(UBR7):c.496-2A>G
|
rs1894564374
|
|
NM_175914.5(HNF4A):c.335G>A (p.Arg112Gln)
|
rs1085307913
|
|
NM_176787.5(PIGN):c.1717dup (p.Thr573fs)
|
rs1555683948
|
|
NM_176824.3(BBS7):c.712_715del (p.Arg238fs)
|
rs760165634
|
|
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)
|
rs864321624
|
|
NM_181486.4(TBX5):c.1158dup (p.Ser387fs)
|
rs1064795870
|
|
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter)
|
rs863223788
|
|
NM_182476.3(COQ6):c.1237G>T (p.Glu413Ter)
|
rs1594816203
|
|
NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter)
|
rs1553575867
|
|
NM_182961.4(SYNE1):c.12247C>T (p.Gln4083Ter)
|
rs1590463470
|
|
NM_182961.4(SYNE1):c.15280del (p.Asp5094fs)
|
|
|
NM_182961.4(SYNE1):c.4908C>A (p.Tyr1636Ter)
|
rs771955377
|
|
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)
|
rs864309483
|
|
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln)
|
rs864309515
|
|
NM_183357.3(ADCY5):c.2088+1G>A
|
rs797045002
|
|
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)
|
rs730882246
|
|
NM_194454.3(KRIT1):c.2025+1G>A
|
|
|
NM_194454.3(KRIT1):c.780C>G (p.Tyr260Ter)
|
|
|
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr)
|
rs121909715
|
|
NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe)
|
rs1057519128
|
|
NM_198488.5(FAM83H):c.926_927del (p.Val309fs)
|
rs1554623490
|
|
NM_198535.3(ZNF699):c.1310_1311del (p.His437fs)
|
|
|
NM_205861.3(DHDDS):c.113G>A (p.Arg38His)
|
rs1570332505
|
|
NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln)
|
rs1553122926
|
|
NM_207111.4(RNF216):c.991C>T (p.Gln331Ter)
|
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
NM_213599.3(ANO5):c.898dup (p.Ile300fs)
|
rs1383346134
|
|
NM_213649.2(SFXN4):c.471+1G>A
|
rs367932369
|
|
Single allele
|
|
|