NM_001072.4(UGT1A6):c.862-10021T>G
|
rs4124874
|
0.56024
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_000277.3(PAH):c.688G>A (p.Val230Ile)
|
rs62516152
|
0.00029
|
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln)
|
rs72546338
|
0.00021
|
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)
|
rs11546842
|
0.00011
|
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)
|
rs80338694
|
0.00009
|
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln)
|
rs118204095
|
0.00006
|
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs)
|
rs776790336
|
0.00005
|
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met)
|
rs762981322
|
0.00004
|
NM_004268.5(MED17):c.1597C>T (p.Gln533Ter)
|
rs752341132
|
0.00004
|
NM_000311.5(PRNP):c.635A>C (p.Gln212Pro)
|
rs751882709
|
0.00003
|
NM_001041.4(SI):c.2401G>T (p.Glu801Ter)
|
rs200972419
|
0.00003
|
NM_003265.3(TLR3):c.2599C>T (p.Arg867Ter)
|
rs745646456
|
0.00003
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
NM_000370.3(TTPA):c.552G>A (p.Thr184=)
|
rs181109321
|
0.00002
|
NM_001083116.3(PRF1):c.921del (p.His308fs)
|
rs777345151
|
0.00002
|
NM_001126108.2(SLC12A3):c.2721-1G>A
|
rs761242621
|
0.00002
|
NM_016006.6(ABHD5):c.730dup (p.Thr244fs)
|
rs754573124
|
0.00002
|
NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys)
|
rs367909007
|
0.00002
|
NM_139125.4(MASP1):c.1576C>T (p.Arg526Ter)
|
rs377074720
|
0.00002
|
NM_000237.3(LPL):c.1139+1G>A
|
rs767260655
|
0.00001
|
NM_000318.3(PEX2):c.-17-2A>G
|
rs1289852067
|
0.00001
|
NM_001122764.3(PPOX):c.503G>A (p.Arg168His)
|
rs41270025
|
0.00001
|
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)
|
rs121918801
|
0.00001
|
NM_001198800.3(ASCC1):c.583C>T (p.Gln195Ter)
|
rs769501930
|
0.00001
|
NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter)
|
rs778698443
|
0.00001
|
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter)
|
rs749593004
|
0.00001
|
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983
|
0.00001
|
NM_005076.5(CNTN2):c.1241-1G>C
|
rs1553345874
|
0.00001
|
NM_005186.4(CAPN1):c.1015C>T (p.Arg339Ter)
|
rs1033887530
|
0.00001
|
NM_014252.4(SLC25A15):c.44C>T (p.Ala15Val)
|
rs202247806
|
0.00001
|
NM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter)
|
rs387907106
|
0.00001
|
NM_014855.3(AP5Z1):c.931C>T (p.Arg311Ter)
|
rs376075583
|
0.00001
|
NM_015909.4(NBAS):c.513+2T>C
|
rs1663675984
|
0.00001
|
NM_017799.4(TMEM260):c.1688del (p.Thr563fs)
|
rs1888745759
|
0.00001
|
NM_024306.5(FA2H):c.806G>A (p.Arg269His)
|
rs1429546236
|
0.00001
|
NM_025099.6(CTC1):c.2386-1G>A
|
rs199861310
|
0.00001
|
NM_138295.5(PKD1L1):c.6396G>A (p.Trp2132Ter)
|
rs765720584
|
0.00001
|
NM_144687.4(NLRP12):c.2360dup (p.Met787fs)
|
rs768447330
|
0.00001
|
NM_207122.2(EXT2):c.1305+2T>C
|
rs202153611
|
0.00001
|
NC_000007.14:g.80649748_80727446del
|
|
|
NC_000014.9:g.105855132dup
|
rs2092930640
|
|
NC_000017.11:g.42910915_42911427del
|
rs2056090806
|
|
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser)
|
rs398123088
|
|
NM_000051.4(ATM):c.3503dup (p.Cys1168fs)
|
rs2082209411
|
|
NM_000051.4(ATM):c.3680_3683del (p.Thr1227fs)
|
rs2082302853
|
|
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter)
|
rs867425110
|
|
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)
|
rs121964963
|
|
NM_000089.4(COL1A2):c.2198G>C (p.Gly733Ala)
|
rs2115931844
|
|
NM_000091.5(COL4A3):c.305del (p.Ser102fs)
|
rs2069242131
|
|
NM_000092.5(COL4A4):c.3933C>G (p.Tyr1311Ter)
|
rs1433065763
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000092.5(COL4A4):c.657+2dup
|
rs2150877933
|
|
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys)
|
rs2132747882
|
|
NM_000117.3(EMD):c.82+1G>A
|
rs1557182214
|
|
NM_000124.4(ERCC6):c.543+1G>T
|
rs1837448977
|
|
NM_000137.4(FAH):c.974C>T (p.Thr325Met)
|
rs770713168
|
|
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn)
|
rs28928868
|
|
NM_000147.5(FUCA1):c.691G>A (p.Gly231Arg)
|
rs1639470403
|
|
NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer)
|
rs2056021430
|
|
NM_000179.3(MSH6):c.1639del (p.Glu547fs)
|
rs1572723786
|
|
NM_000179.3(MSH6):c.1991C>A (p.Ser664Ter)
|
rs1553413355
|
|
NM_000214.3(JAG1):c.2278del (p.Val760fs)
|
rs2067297301
|
|
NM_000222.3(KIT):c.2244_2253del (p.Ile748fs)
|
rs2109794937
|
|
NM_000237.3(LPL):c.1160_1161insT (p.Lys387fs)
|
rs2070032216
|
|
NM_000237.3(LPL):c.784C>T (p.Gln262Ter)
|
rs1297688787
|
|
NM_000249.4(MLH1):c.1528_1532delinsACTAGTTTG (p.Gln510fs)
|
rs2083718945
|
|
NM_000251.3(MSH2):c.2619C>A (p.Cys873Ter)
|
|
|
NM_000256.3(MYBPC3):c.1927+1G>T
|
rs2142859053
|
|
NM_000264.5(PTCH1):c.3921del (p.Arg1308fs)
|
|
|
NM_000271.5(NPC1):c.1286T>G (p.Val429Gly)
|
|
|
NM_000271.5(NPC1):c.1339C>A (p.Gln447Lys)
|
|
|
NM_000271.5(NPC1):c.1510_1512del (p.Phe504del)
|
|
|
NM_000271.5(NPC1):c.1615G>A (p.Gly539Arg)
|
|
|
NM_000271.5(NPC1):c.1780_1782del (p.Tyr594del)
|
|
|
NM_000271.5(NPC1):c.2027G>T (p.Ser676Ile)
|
|
|
NM_000271.5(NPC1):c.2365C>G (p.Arg789Gly)
|
rs1555633697
|
|
NM_000271.5(NPC1):c.2695T>C (p.Tyr899His)
|
|
|
NM_000271.5(NPC1):c.2758G>A (p.Val920Met)
|
|
|
NM_000271.5(NPC1):c.2770T>C (p.Phe924Leu)
|
|
|
NM_000271.5(NPC1):c.2795+56C>T
|
rs2058685029
|
|
NM_000271.5(NPC1):c.2882_2897delinsG (p.Asn961_Phe966delinsSer)
|
|
|
NM_000271.5(NPC1):c.3154_3156del (p.Ile1052del)
|
|
|
NM_000271.5(NPC1):c.3265G>C (p.Glu1089Gln)
|
|
|
NM_000271.5(NPC1):c.3279CAT[1] (p.Ile1095del)
|
|
|
NM_000271.5(NPC1):c.3314C>A (p.Ser1105Tyr)
|
|
|
NM_000271.5(NPC1):c.338G>A (p.Cys113Tyr)
|
|
|
NM_000271.5(NPC1):c.3490T>C (p.Ser1164Pro)
|
|
|
NM_000271.5(NPC1):c.3614C>T (p.Thr1205Ile)
|
|
|
NM_000271.5(NPC1):c.3732_3735del (p.Pro1245fs)
|
|
|
NM_000271.5(NPC1):c.392dup (p.Asp131fs)
|
|
|
NM_000271.5(NPC1):c.497C>A (p.Pro166His)
|
|
|
NM_000271.5(NPC1):c.529T>C (p.Cys177Arg)
|
|
|
NM_000271.5(NPC1):c.532G>A (p.Gly178Arg)
|
|
|
NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)
|
|
|
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
|
|
|
NM_000271.5(NPC1):c.803_805dup (p.Met268_Tyr269insLeu)
|
|
|
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter)
|
rs772912966
|
|
NM_000310.4(PPT1):c.398del (p.Met133fs)
|
rs386833644
|
|
NM_000311.5(PRNP):c.392G>A (p.Gly131Glu)
|
rs74315410
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
NM_000314.8(PTEN):c.3_27del (p.Met1fs)
|
rs2132145338
|
|
NM_000314.8(PTEN):c.529T>C (p.Tyr177His)
|
rs1860418425
|
|
NM_000314.8(PTEN):c.898del (p.Ile300fs)
|
rs2132282499
|
|
NM_000314.8(PTEN):c.966_996del (p.Asn323fs)
|
rs2132283188
|
|
NM_000321.3(RB1):c.373G>T (p.Glu125Ter)
|
rs1952457111
|
|
NM_000352.6(ABCC8):c.526dup (p.Val176fs)
|
rs1847952281
|
|
NM_000387.6(SLC25A20):c.105+1G>T
|
rs970037429
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000436.4(OXCT1):c.1339-2A>G
|
rs1743668356
|
|
NM_000454.5(SOD1):c.377A>C (p.Asp126Ala)
|
rs1164911383
|
|
NM_000493.4(COL10A1):c.1775dup (p.Ile593fs)
|
rs2114278703
|
|
NM_000494.4(COL17A1):c.3539dup (p.Gly1181fs)
|
rs2086266709
|
|
NM_000512.5(GALNS):c.423-862C>T
|
rs1597575641
|
|
NM_000528.4(MAN2B1):c.2356-2A>G
|
rs1064793936
|
|
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr)
|
rs752029455
|
|
NM_000546.6(TP53):c.376-11_377del
|
rs2151034180
|
|
NM_000557.5(GDF5):c.1139G>A (p.Arg380Gln)
|
rs397514668
|
|
NM_000558.5(HBA1):c.95+2_95+6del
|
rs1181505507
|
|
NM_000642.3(AGL):c.2399dup (p.Asp801fs)
|
rs1652268068
|
|
NM_000642.3(AGL):c.567dup (p.Arg190Ter)
|
rs1650334882
|
|
NM_000719.7(CACNA1C):c.2451del (p.Ala818fs)
|
rs2153231721
|
|
NM_000834.5(GRIN2B):c.1495G>A (p.Gly499Arg)
|
rs867553974
|
|
NM_000836.4(GRIN2D):c.1724C>T (p.Ser575Leu)
|
rs1970945661
|
|
NM_000836.4(GRIN2D):c.2029C>G (p.Leu677Val)
|
rs901526282
|
|
NM_001003694.2(BRPF1):c.3263dup (p.Leu1089fs)
|
rs2125515297
|
|
NM_001008537.3(NEXMIF):c.791_792del (p.Phe264fs)
|
rs2080116462
|
|
NM_001009944.3(PKD1):c.7065+1G>A
|
rs2151783532
|
|
NM_001040142.2(SCN2A):c.2501G>A (p.Ser834Asn)
|
rs1699364791
|
|
NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe)
|
rs1702006673
|
|
NM_001042492.3(NF1):c.2998_2999del (p.Arg1000fs)
|
rs1597716817
|
|
NM_001079537.2(TRAPPC6B):c.149+2T>A
|
rs758863393
|
|
NM_001080517.3(SETD5):c.1043G>A (p.Arg348Gln)
|
rs2125194268
|
|
NM_001083962.2(TCF4):c.1166G>T (p.Arg389Leu)
|
|
|
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp)
|
rs1435160117
|
|
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr)
|
rs1562720119
|
|
NM_001101.5(ACTB):c.625G>A (p.Val209Met)
|
rs587779777
|
|
NM_001110354.2(ZP3):c.157dup (p.Val53fs)
|
rs2115882062
|
|
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs)
|
rs2065902096
|
|
NM_001110792.2(MECP2):c.177_180dup (p.Ser61fs)
|
rs2065988707
|
|
NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg)
|
rs2059190701
|
|
NM_001134665.3(TRMT10A):c.697_698delinsTA (p.Pro233Ter)
|
rs1723938282
|
|
NM_001163435.3(TBCK):c.1170+1G>A
|
rs765407874
|
|
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del)
|
rs1432360280
|
|
NM_001171613.2(PREPL):c.1366C>T (p.Gln456Ter)
|
rs1673549822
|
|
NM_001197104.2(KMT2A):c.2354_2402dup (p.His801delinsGlnSerSerCysHisTer)
|
rs1949980614
|
|
NM_001220.5(CAMK2B):c.696+1G>A
|
rs780130215
|
|
NM_001242896.3(DEPDC5):c.3460TCC[1] (p.Ser1155del)
|
rs2092817019
|
|
NM_001244008.2(KIF1A):c.40C>A (p.Pro14Thr)
|
rs2056558371
|
|
NM_001256789.3(CACNA1F):c.4190_4191del (p.Glu1397fs)
|
rs2147897090
|
|
NM_001267550.2(TTN):c.13115del (p.Val4372fs)
|
rs2154317965
|
|
NM_001267550.2(TTN):c.20392A>T (p.Lys6798Ter)
|
rs2154304590
|
|
NM_001267550.2(TTN):c.2224del (p.Ser742fs)
|
rs2093148818
|
|
NM_001282225.2(ADA2):c.-46-108_542+142del
|
|
|
NM_001292034.3(TAB2):c.1526del (p.Pro509fs)
|
rs1781533816
|
|
NM_001303052.2(MYT1L):c.2484_2485del (p.Arg829fs)
|
rs2148852029
|
|
NM_001321120.2(TBX4):c.1115dup (p.Pro373fs)
|
rs754897911
|
|
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)
|
rs1064796367
|
|
NM_001349338.3(FOXP1):c.1103dup (p.His368fs)
|
rs2040036225
|
|
NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter)
|
rs2052539418
|
|
NM_001364905.1(LRBA):c.4159-1G>T
|
rs1750245794
|
|
NM_001364905.1(LRBA):c.863del (p.His288fs)
|
rs2149489382
|
|
NM_001365276.2(TNXB):c.8473G>A (p.Glu2825Lys)
|
rs759929653
|
|
NM_001365902.3(NFIX):c.912_921dup (p.Gln308fs)
|
rs2145442806
|
|
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)
|
rs1114167352
|
|
NM_001367721.1(CASK):c.915+1G>A
|
rs2147368049
|
|
NM_001370100.5(ZMYND11):c.1028G>A (p.Trp343Ter)
|
rs2131925813
|
|
NM_001371928.1(AHDC1):c.2520dup (p.Arg841fs)
|
|
|
NM_001371986.1(UNC80):c.1063del (p.Tyr355fs)
|
rs1553523425
|
|
NM_001372044.2(SHANK3):c.2324+1del
|
rs2146817773
|
|
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs)
|
rs1779004027
|
|
NM_001374828.1(ARID1B):c.5264-2A>G
|
rs1794274425
|
|
NM_001378183.1(PIEZO2):c.8555C>T (p.Ser2852Leu)
|
rs2033776473
|
|
NM_001378778.1(MPDZ):c.3253A>T (p.Lys1085Ter)
|
rs1951349487
|
|
NM_001379110.1(SLC9A6):c.1143_1144del (p.Phe382fs)
|
rs1064793575
|
|
NM_001379403.1(WDR26):c.1556G>A (p.Cys519Tyr)
|
rs2102897778
|
|
NM_001379451.1(BCORL1):c.1562_1563del (p.Leu521fs)
|
|
|
NM_001382347.1(MYO5A):c.3043C>T (p.Arg1015Ter)
|
rs2141084327
|
|
NM_001429.3(EP300):c.3857A>G
|
rs1555910821
|
|
NM_001429.4(EP300):c.3067del (p.Glu1022_Ile1023insTer)
|
rs2059050708
|
|
NM_001429.4(EP300):c.3733del (p.Val1245fs)
|
|
|
NM_001614.5(ACTG1):c.459G>A (p.Met153Ile)
|
rs2143779081
|
|
NM_001739.2(CA5A):c.580C>T (p.Gln194Ter)
|
rs2055884613
|
|
NM_001844.5(COL2A1):c.1457G>A (p.Gly486Asp)
|
rs1939412490
|
|
NM_001845.6(COL4A1):c.2290G>A (p.Gly764Ser)
|
rs2139165584
|
|
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser)
|
rs2139163058
|
|
NM_001904.4(CTNNB1):c.242-5T>G
|
rs2125619523
|
|
NM_001943.5(DSG2):c.45+1G>C
|
rs1568098570
|
|
NM_002292.4(LAMB2):c.4276dup (p.Ala1426fs)
|
rs2045366127
|
|
NM_002317.7(LOX):c.1009C>T (p.Arg337Ter)
|
rs1754538399
|
|
NM_002354.3(EPCAM):c.13C>T (p.Gln5Ter)
|
rs747738988
|
|
NM_002354.3(EPCAM):c.439G>T (p.Glu147Ter)
|
rs987919056
|
|
NM_002397.5(MEF2C):c.402+184del
|
rs2152669802
|
|
NM_002585.4(PBX1):c.836A>G (p.Gln279Arg)
|
rs1669421181
|
|
NM_002609.4(PDGFRB):c.1025C>T (p.Ala342Val)
|
rs2113907045
|
|
NM_002739.5(PRKCG):c.220C>T (p.His74Tyr)
|
rs2122976509
|
|
NM_002772.3(TMPRSS15):c.2294del (p.Leu765fs)
|
rs748851550
|
|
NM_002772.3(TMPRSS15):c.2325del (p.Lys775fs)
|
rs749950017
|
|
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)
|
rs397507511
|
|
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)
|
rs397507519
|
|
NM_002890.3(RASA1):c.1201del (p.Ile401fs)
|
rs2112421707
|
|
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
|
|
|
NM_003108.4(SOX11):c.359C>T (p.Pro120Leu)
|
rs1665662335
|
|
NM_003282.4(TNNI2):c.520C>T (p.Arg174Trp)
|
rs1589797083
|
|
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)
|
rs1223645705
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003482.4(KMT2D):c.4138T>C (p.Cys1380Arg)
|
rs2120621227
|
|
NM_003560.4(PLA2G6):c.1742+2T>G
|
rs2087478227
|
|
NM_003590.5(CUL3):c.1358dup (p.Asn453fs)
|
rs1366667901
|
|
NM_003722.5(TP63):c.858dup (p.Leu287fs)
|
rs2108801923
|
|
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)
|
rs867525294
|
|
NM_003742.4(ABCB11):c.2178+2T>C
|
rs1693198121
|
|
NM_003742.4(ABCB11):c.3382C>G (p.Arg1128Gly)
|
rs764581483
|
|
NM_003742.4(ABCB11):c.908+1G>C
|
rs147649016
|
|
NM_004006.3(DMD):c.1283del (p.Asn428fs)
|
rs2059643357
|
|
NM_004046.6(ATP5F1A):c.1176+1G>C
|
rs1131691396
|
|
NM_004423.4(DVL3):c.1473C>G (p.Tyr491Ter)
|
rs2109022762
|
|
NM_004562.3(PRKN):c.220_221dup (p.Trp74fs)
|
rs746646126
|
|
NM_004586.3(RPS6KA3):c.646A>T (p.Lys216Ter)
|
rs1555939456
|
|
NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer)
|
rs1830379007
|
|
NM_004817.4(TJP2):c.239+1G>A
|
rs749237210
|
|
NM_005045.4(RELN):c.9444-1G>A
|
rs1828624396
|
|
NM_005199.5(CHRNG):c.351-9T>C
|
rs764382582
|
|
NM_005431.2(XRCC2):c.350dup (p.Leu117fs)
|
rs764640893
|
|
NM_005629.4(SLC6A8):c.1255-35_1272del
|
rs2091473708
|
|
NM_005807.6(PRG4):c.2247del (p.Ala750fs)
|
rs1656851989
|
|
NM_005807.6(PRG4):c.3254_3260dup (p.Val1088fs)
|
rs769917456
|
|
NM_005807.6(PRG4):c.3462_3465del (p.Thr1155fs)
|
rs768053349
|
|
NM_005859.5(PURA):c.-12_25del (p.Met1fs)
|
rs1763033823
|
|
NM_005859.5(PURA):c.824C>A (p.Ser275Ter)
|
rs2126749442
|
|
NM_005861.4(STUB1):c.807dup (p.Val270fs)
|
rs2151507049
|
|
NM_005862.3(STAG1):c.625G>C (p.Gly209Arg)
|
rs2107905472
|
|
NM_006302.3(MOGS):c.1422G>A (p.Trp474Ter)
|
rs1671940053
|
|
NM_006509.4(RELB):c.919C>T (p.Arg307Ter)
|
rs1971589003
|
|
NM_006565.4(CTCF):c.-3_2delinsTC (p.Met1del)
|
rs2142822830
|
|
NM_006767.4(LZTR1):c.320+1G>C
|
rs943939913
|
|
NM_006772.3(SYNGAP1):c.458C>A (p.Thr153Asn)
|
rs998489108
|
|
NM_006907.4(PYCR1):c.219_220dup (p.Ile74fs)
|
rs2041157497
|
|
NM_006908.5(RAC1):c.198A>T (p.Arg66Ser)
|
rs1783105291
|
|
NM_006984.5(CLDN10):c.653del (p.Pro218fs)
|
rs2043960821
|
|
NM_007327.4(GRIN1):c.1850C>T (p.Ser617Phe)
|
rs2131298649
|
|
NM_012330.4(KAT6B):c.3004_3005insTTAGC (p.Arg1002fs)
|
rs2134159675
|
|
NM_012330.4(KAT6B):c.3022-5C>G
|
rs2134165271
|
|
NM_012452.3(TNFRSF13B):c.102C>A (p.Cys34Ter)
|
rs756955033
|
|
NM_013275.6(ANKRD11):c.2089G>T (p.Glu697Ter)
|
rs2151761457
|
|
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter)
|
rs2151730563
|
|
NM_014141.6(CNTNAP2):c.498G>A (p.Trp166Ter)
|
rs1176180722
|
|
NM_014141.6(CNTNAP2):c.5_8dup (p.Ala4fs)
|
rs1797490749
|
|
NM_014362.4(HIBCH):c.386-1G>C
|
rs1203170244
|
|
NM_014714.4(IFT140):c.1525-1G>A
|
rs2034013225
|
|
NM_014727.3(KMT2B):c.1205del (p.Pro402fs)
|
rs1969146161
|
|
NM_014795.4(ZEB2):c.1683_1689dup (p.Asp564fs)
|
rs1703278635
|
|
NM_014795.4(ZEB2):c.876dup (p.Tyr293fs)
|
rs2149877962
|
|
NM_014845.6(FIG4):c.2376+2T>G
|
rs756308787
|
|
NM_015046.7(SETX):c.1110G>A (p.Trp370Ter)
|
rs2131463657
|
|
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys)
|
rs2137290227
|
|
NM_015335.5(MED13L):c.4353del (p.Gln1452fs)
|
rs2137278830
|
|
NM_015629.4(PRPF31):c.267del (p.Glu89fs)
|
rs2146409568
|
|
NM_015634.4(KIFBP):c.169G>T (p.Glu57Ter)
|
rs770201721
|
|
NM_015910.7(WDPCP):c.253+2T>C
|
rs1700584499
|
|
NM_015915.5(ATL1):c.574C>T (p.Leu192Phe)
|
rs2039208042
|
|
NM_015991.4(C1QA):c.210delinsAA (p.Gly71fs)
|
rs1642221044
|
|
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter)
|
rs749597091
|
|
NM_016356.5(DCDC2):c.923-283_1023+141del
|
rs1761673797
|
|
NM_016648.4(LARP7):c.427del (p.Arg143fs)
|
rs1560929898
|
|
NM_016953.4(PDE11A):c.1913_1915delinsG (p.Gln638fs)
|
rs1574084195
|
|
NM_017635.5(KMT5B):c.787C>T (p.Leu263Phe)
|
rs2153052371
|
|
NM_017780.4(CHD7):c.7320del (p.Val2441fs)
|
rs2129649243
|
|
NM_017934.7(PHIP):c.3947dup (p.Tyr1316Ter)
|
rs1582100341
|
|
NM_018010.4(IFT57):c.585+3A>G
|
rs1560127636
|
|
NM_018684.4(ZC4H2):c.174_178del (p.Glu58fs)
|
rs2147349682
|
|
NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro)
|
rs2039524843
|
|
NM_019066.5(MAGEL2):c.1808C>G (p.Ser603Ter)
|
rs1595332731
|
|
NM_019074.4(DLL4):c.1392C>A (p.Cys464Ter)
|
rs1596194950
|
|
NM_019096.5(GTPBP2):c.1236+1G>A
|
rs1252019134
|
|
NM_019096.5(GTPBP2):c.1527_1528del (p.Glu509fs)
|
rs1768790302
|
|
NM_020297.4(ABCC9):c.3190G>C (p.Ala1064Pro)
|
rs1944560174
|
|
NM_020451.3(SELENON):c.872+1G>A
|
rs2047936719
|
|
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met)
|
rs754097561
|
|
NM_020680.4(SCYL1):c.1386+1G>T
|
rs201581270
|
|
NM_020738.4(KIDINS220):c.3991G>T (p.Glu1331Ter)
|
rs1664428695
|
|
NM_020774.4(MIB1):c.2039del (p.Gln680fs)
|
rs757527279
|
|
NM_020919.4(ALS2):c.4753_4754dup (p.Ser1585fs)
|
rs1689584119
|
|
NM_021008.4(DEAF1):c.997+2_997+3del
|
rs1860334710
|
|
NM_021076.4(NEFH):c.406C>T (p.Gln136Ter)
|
rs1359968264
|
|
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn)
|
rs1057521927
|
|
NM_021999.5(ITM2B):c.800G>T (p.Ter267Leu)
|
rs2137997888
|
|
NM_022089.4(ATP13A2):c.1837C>T (p.Gln613Ter)
|
rs2100785804
|
|
NM_022167.4(XYLT2):c.1552del (p.Leu518fs)
|
rs1912543391
|
|
NM_022370.4(ROBO3):c.3412del (p.Arg1138fs)
|
rs1946470902
|
|
NM_022370.4(ROBO3):c.767-1G>A
|
rs1946261580
|
|
NM_022725.4(FANCF):c.817_820del (p.Val273fs)
|
rs1858619779
|
|
NM_023110.3(FGFR1):c.2044G>A (p.Asp682Asn)
|
rs2150548677
|
|
NM_024312.5(GNPTAB):c.2915+4_2915+9del
|
rs1952994888
|
|
NM_024757.5(EHMT1):c.21+1_21+5del
|
rs1842769868
|
|
NM_025137.4(SPG11):c.1877del (p.Phe626fs)
|
rs2083989142
|
|
NM_025137.4(SPG11):c.4852G>T (p.Glu1618Ter)
|
rs2082843264
|
|
NM_025137.4(SPG11):c.6437_6438del (p.Thr2146fs)
|
rs2082401685
|
|
NM_025243.4(SLC19A3):c.482_483del (p.Leu161fs)
|
rs1271884981
|
|
NM_030632.3(ASXL3):c.3592_3593insGAT (p.Leu1198Ter)
|
rs2067703001
|
|
NM_031307.4(PUS3):c.1181_1182del (p.Ser394fs)
|
rs753229591
|
|
NM_031443.4(CCM2):c.472+1G>C
|
rs745710633
|
|
NM_032119.4(ADGRV1):c.17518del (p.Tyr5840fs)
|
rs1766797963
|
|
NM_033380.3(COL4A5):c.3106+1G>A
|
rs2147872358
|
|
NM_033380.3(COL4A5):c.3508G>C (p.Gly1170Arg)
|
rs104886237
|
|
NM_033380.3(COL4A5):c.3554-2A>G
|
rs2147956337
|
|
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr)
|
rs759541820
|
|
NM_033453.4(ITPA):c.136_138delinsTAA (p.Gln46Ter)
|
rs2067217104
|
|
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)
|
rs762292772
|
|
NM_033629.6(TREX1):c.621_622del (p.Ile207fs)
|
rs781199890
|
|
NM_052867.4(NALCN):c.883del (p.Arg295fs)
|
rs2043584001
|
|
NM_054027.6(ANKH):c.13C>T (p.Pro5Ser)
|
rs121908410
|
|
NM_080680.3(COL11A2):c.2690del (p.Pro897fs)
|
rs2150555528
|
|
NM_138459.5(NUS1):c.692-2A>G
|
rs2114693876
|
|
NM_139284.3(LGI4):c.1272C>A (p.Cys424Ter)
|
rs2065136111
|
|
NM_139284.3(LGI4):c.263_265del (p.Phe88del)
|
rs2065190797
|
|
NM_152263.4(TPM3):c.377+863_775+422del
|
|
|
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg)
|
rs2145946065
|
|
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)
|
rs864309572
|
|
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs)
|
rs1811766430
|
|
NM_177400.3(NKX6-2):c.196del (p.Arg66fs)
|
rs1554961118
|
|
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter)
|
rs1565019928
|
|
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp)
|
rs864321624
|
|
NM_181078.3(IL21R):c.352+1G>C
|
rs2087297703
|
|
NM_181789.4(GLDN):c.1028-2A>T
|
rs2038250738
|
|
NM_182641.4(BPTF):c.1132C>T (p.Arg378Ter)
|
rs2144998926
|
|
NM_183075.3(CYP2U1):c.311_336dup (p.Val113delinsArgCysSerTrpLeuThrTer)
|
rs1733002976
|
|
NM_183235.3(RAB27A):c.475T>C (p.Tyr159His)
|
rs1894614852
|
|
NM_207122.2(EXT2):c.939+2T>C
|
rs2135015771
|
|
NM_207581.4(DUOXA2):c.95dup (p.Leu32fs)
|
rs974496530
|
|