NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)
|
rs138016359
|
0.00088
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_001128126.3(AP4S1):c.138+1G>A
|
rs200033849
|
0.00004
|
NM_032242.4(PLXNA1):c.2641C>T (p.Arg881Trp)
|
rs762983679
|
0.00004
|
NM_032242.4(PLXNA1):c.3554G>A (p.Arg1185Gln)
|
rs375833812
|
0.00002
|
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln)
|
rs1429234959
|
0.00001
|
NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys)
|
rs367757240
|
0.00001
|
NM_001366521.1(ATP2B1):c.2365C>T (p.Arg789Cys)
|
rs1161061134
|
0.00001
|
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys)
|
rs766478634
|
0.00001
|
NM_016059.5(PPIL1):c.133C>T (p.Arg45Ter)
|
rs1774516234
|
0.00001
|
NM_030973.4(MED25):c.820-1G>A
|
rs551069830
|
0.00001
|
NM_032242.4(PLXNA1):c.1549C>T (p.Gln517Ter)
|
rs1204647586
|
0.00001
|
NM_032242.4(PLXNA1):c.4483C>T (p.Arg1495Trp)
|
rs2079185551
|
0.00001
|
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3
|
|
|
NC_000002.11:g.39053852_42501893dup
|
|
|
NC_000013.11:g.41074134_41090164del
|
|
|
NM_000048.4(ASL):c.374T>C (p.Met125Thr)
|
|
|
NM_000048.4(ASL):c.502C>A (p.Arg168Ser)
|
rs766832061
|
|
NM_000388.4(CASR):c.2516T>C (p.Ile839Thr)
|
rs2107650645
|
|
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly)
|
rs2146717703
|
|
NM_000834.5(GRIN2B):c.1079C>T (p.Pro360Leu)
|
|
|
NM_000875.5(IGF1R):c.2128_2139del (p.Gln710_Lys713del)
|
|
|
NM_000875.5(IGF1R):c.3137_3138del (p.Glu1046fs)
|
|
|
NM_000875.5(IGF1R):c.77G>A (p.Trp26Ter)
|
rs2141155238
|
|
NM_000937.5(POLR2A):c.3281C>T (p.Ser1094Phe)
|
rs775858617
|
|
NM_001003694.2(BRPF1):c.2065dup (p.Glu689fs)
|
rs2125507991
|
|
NM_001007527.2(LMBRD2):c.1448G>A (p.Arg483His)
|
rs2111857835
|
|
NM_001007527.2(LMBRD2):c.1460C>T (p.Pro487Leu)
|
rs2111857806
|
|
NM_001009880.2(KIAA0930):c.965C>T (p.Ser322Leu)
|
rs2147734951
|
|
NM_001009880.2(KIAA0930):c.971C>T (p.Ser324Leu)
|
rs2147734941
|
|
NM_001009880.2(KIAA0930):c.973G>A (p.Ala325Thr)
|
rs2147734937
|
|
NM_001039591.3(USP9X):c.208_209del (p.His69_Thr70insTer)
|
rs2147006012
|
|
NM_001040142.2(SCN2A):c.304C>G (p.Arg102Gly)
|
rs387906683
|
|
NM_001042681.2(RERE):c.3732del (p.Tyr1245fs)
|
|
|
NM_001042750.2(STAG2):c.943T>C (p.Trp315Arg)
|
|
|
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs)
|
rs1555349214
|
|
NM_001101.5(ACTB):c.1078_1079dup (p.Gln360fs)
|
|
|
NM_001101.5(ACTB):c.166G>T (p.Asp56Tyr)
|
rs1584263049
|
|
NM_001101.5(ACTB):c.31_33del (p.Asp11del)
|
rs2128241455
|
|
NM_001127392.3(MYRF):c.1817_1819dup (p.Arg606_Ile607insArg)
|
rs2135843880
|
|
NM_001128.6(AP1G1):c.974+1G>T
|
rs2145462890
|
|
NM_001130053.5(EEF1D):c.1114del (p.Phe371_Leu372insTer)
|
|
|
NM_001130438.3(SPTAN1):c.5468_5471del (p.Pro1823fs)
|
|
|
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)
|
rs1445802934
|
|
NM_001134407.3(GRIN2A):c.2084G>A (p.Arg695Gln)
|
rs1555491654
|
|
NM_001134673.4(NFIA):c.984_1015del (p.Lys328fs)
|
rs2100485780
|
|
NM_001135998.3(NDUFB11):c.145_152dup (p.Thr52fs)
|
rs2147053098
|
|
NM_001145073.3(USP27X):c.106C>T (p.Gln36Ter)
|
rs2147224405
|
|
NM_001145358.2(SIN3A):c.1076dup (p.Tyr359Ter)
|
rs2141487276
|
|
NM_001165963.4(SCN1A):c.3977C>A (p.Ala1326Asp)
|
rs2105569724
|
|
NM_001170629.2(CHD8):c.2364+1G>C
|
rs2139484699
|
|
NM_001170629.2(CHD8):c.2487-1G>C
|
rs2139481823
|
|
NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs)
|
rs751094013
|
|
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
|
|
|
NM_001174147.2(LMX1B):c.319_320dup (p.Gln108fs)
|
rs2118823895
|
|
NM_001190274.2(FBXO11):c.1042-1G>C
|
rs1572806589
|
|
NM_001190274.2(FBXO11):c.1260+1G>C
|
rs1672276134
|
|
NM_001190274.2(FBXO11):c.1276A>T (p.Asn426Tyr)
|
rs2104808169
|
|
NM_001190274.2(FBXO11):c.1612A>G (p.Ile538Val)
|
rs1553338592
|
|
NM_001190274.2(FBXO11):c.1825_1829del (p.Glu608_Glu609insTer)
|
rs1671197579
|
|
NM_001190274.2(FBXO11):c.1868C>G (p.Thr623Arg)
|
rs1671196392
|
|
NM_001190274.2(FBXO11):c.2084-1G>A
|
rs1670754178
|
|
NM_001190274.2(FBXO11):c.2084-6_2085dup
|
rs1670753929
|
|
NM_001190274.2(FBXO11):c.2518T>C (p.Ser840Pro)
|
rs1553335247
|
|
NM_001190274.2(FBXO11):c.2675C>A (p.Ala892Asp)
|
rs1670358755
|
|
NM_001190274.2(FBXO11):c.2700_2703dup (p.Ala902fs)
|
rs1670356870
|
|
NM_001190274.2(FBXO11):c.2709dup (p.Glu904Ter)
|
rs1553334874
|
|
NM_001190274.2(FBXO11):c.2714C>G (p.Pro905Arg)
|
rs1670356255
|
|
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly)
|
rs1670355281
|
|
NM_001190274.2(FBXO11):c.2738_2739del (p.Leu912_Tyr913insTer)
|
rs1553334863
|
|
NM_001190274.2(FBXO11):c.319_320del (p.Leu107fs)
|
rs1672866585
|
|
NM_001190274.2(FBXO11):c.414A>T (p.Arg138Ser)
|
rs1553342109
|
|
NM_001190274.2(FBXO11):c.467A>G (p.Gln156Arg)
|
rs1672806975
|
|
NM_001190274.2(FBXO11):c.506_507del (p.Ser169fs)
|
rs1672803381
|
|
NM_001197104.2(KMT2A):c.11430-250_11643+240del
|
|
|
NM_001197104.2(KMT2A):c.4696G>A (p.Gly1566Arg)
|
rs2134335014
|
|
NM_001197104.2(KMT2A):c.9449del (p.Pro3150fs)
|
|
|
NM_001197104.2(KMT2A):c.9847C>T (p.Arg3283Ter)
|
rs2134408087
|
|
NM_001204077.2(UBE4A):c.1214_1215del (p.Asn405fs)
|
|
|
NM_001252102.2(KIF21B):c.4625A>G (p.Asn1542Ser)
|
rs893498810
|
|
NM_001256627.2(BRSK2):c.1668G>A (p.Ser556=)
|
|
|
NM_001282116.2(RFX3):c.1708dup (p.Ala570fs)
|
rs2131116061
|
|
NM_001291415.2(KDM6A):c.1486-2A>G
|
|
|
NM_001303052.2(MYT1L):c.1975C>T (p.Arg659Ter)
|
rs745333246
|
|
NM_001330260.2(SCN8A):c.2683C>G (p.Gln895Glu)
|
|
|
NM_001330260.2(SCN8A):c.5084T>C (p.Met1695Thr)
|
rs2138942837
|
|
NM_001330260.2(SCN8A):c.736C>T (p.Gln246Ter)
|
rs1555218610
|
|
NM_001330288.2(SMARCC2):c.230C>T (p.Pro77Leu)
|
rs1877425899
|
|
NM_001348323.3(TRIP12):c.6129T>G (p.Tyr2043Ter)
|
|
|
NM_001348800.3(ZBTB20):c.1775A>G (p.Asn592Ser)
|
rs1240860015
|
|
NM_001348800.3(ZBTB20):c.1862T>G (p.Leu621Arg)
|
|
|
NM_001349338.3(FOXP1):c.1000dup (p.Asp334fs)
|
rs2107613139
|
|
NM_001349798.2(FBXW7):c.1877C>T (p.Ala626Val)
|
rs2126466009
|
|
NM_001349798.2(FBXW7):c.1939A>T (p.Lys647Ter)
|
rs2126464225
|
|
NM_001349798.2(FBXW7):c.832C>T (p.Arg278Ter)
|
rs2126583593
|
|
NM_001353345.2(SETD1B):c.5443G>A (p.Asp1815Asn)
|
rs2137589126
|
|
NM_001353345.2(SETD1B):c.5824_5829del (p.Asp1942_Tyr1943del)
|
rs1877025777
|
|
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs)
|
rs1602131859
|
|
NM_001363540.2(DOCK4):c.2945C>T (p.Thr982Ile)
|
|
|
NM_001363540.2(DOCK4):c.3131T>C (p.Met1044Thr)
|
|
|
NM_001363540.2(DOCK4):c.3200T>C (p.Ile1067Thr)
|
|
|
NM_001365902.3(NFIX):c.1254+2T>A
|
|
|
NM_001366521.1(ATP2B1):c.1274C>A (p.Thr425Lys)
|
rs2136106360
|
|
NM_001366521.1(ATP2B1):c.1376A>G (p.His459Arg)
|
rs1879993052
|
|
NM_001366521.1(ATP2B1):c.1789C>T (p.Arg597Ter)
|
rs1879711772
|
|
NM_001366521.1(ATP2B1):c.2470G>A (p.Glu824Lys)
|
rs2135949570
|
|
NM_001366521.1(ATP2B1):c.2972G>A (p.Arg991Gln)
|
rs1433458409
|
|
NM_001366521.1(ATP2B1):c.3110C>G (p.Ser1037Ter)
|
|
|
NM_001366521.1(ATP2B1):c.458G>A (p.Trp153Ter)
|
rs2136193860
|
|
NM_001366521.1(ATP2B1):c.716A>G (p.Asp239Gly)
|
rs2136192267
|
|
NM_001366521.1(ATP2B1):c.791C>T (p.Thr264Ile)
|
rs2136158725
|
|
NM_001367479.1(DNAH14):c.3697C>T (p.Gln1233Ter)
|
|
|
NM_001367873.1(SOX6):c.1893G>C (p.Trp631Cys)
|
rs2119819668
|
|
NM_001367873.1(SOX6):c.2074C>T (p.Pro692Ser)
|
rs2119818229
|
|
NM_001367873.1(SOX6):c.293C>G (p.Ser98Ter)
|
rs2134302287
|
|
NM_001374828.1(ARID1B):c.1548del (p.Ser515_Tyr516insTer)
|
rs2114999450
|
|
NM_001375524.1(TRRAP):c.3316G>A (p.Glu1106Lys)
|
rs1584324956
|
|
NM_001382241.1(TNPO2):c.1471_1474delinsCAAT (p.Lys491_Arg492delinsGlnTrp)
|
rs2145496104
|
|
NM_001382637.1(OTUD7A):c.893+1del
|
|
|
NM_001394998.1(TANC2):c.1441+1G>A
|
rs2045256930
|
|
NM_001394998.1(TANC2):c.3003del (p.Ala1002fs)
|
rs2047893330
|
|
NM_001394998.1(TANC2):c.4268+2T>G
|
rs2048929422
|
|
NM_001394998.1(TANC2):c.4657del (p.Arg1553fs)
|
rs2048988947
|
|
NM_001394998.1(TANC2):c.4699C>T (p.Gln1567Ter)
|
rs764041869
|
|
NM_001394998.1(TANC2):c.4965_4968del (p.Gln1656fs)
|
rs2048999762
|
|
NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile)
|
rs1732900321
|
|
NM_001854.4(COL11A1):c.4554+1G>C
|
rs886044244
|
|
NM_001967.4(EIF4A2):c.1032G>C (p.Leu344Phe)
|
|
|
NM_001967.4(EIF4A2):c.106GAT[1] (p.Asp37del)
|
|
|
NM_001967.4(EIF4A2):c.131_132del (p.Leu44fs)
|
|
|
NM_001967.4(EIF4A2):c.481G>T (p.Gly161Trp)
|
|
|
NM_001967.4(EIF4A2):c.5C>G (p.Ser2Cys)
|
|
|
NM_001967.4(EIF4A2):c.641C>A (p.Ser214Tyr)
|
|
|
NM_001967.4(EIF4A2):c.646A>G (p.Thr216Ala)
|
|
|
NM_001967.4(EIF4A2):c.647C>T (p.Thr216Ile)
|
|
|
NM_001967.4(EIF4A2):c.945_947del (p.Ile315del)
|
|
|
NM_001967.4(EIF4A2):c.[1161_1166del;186_187del]
|
|
|
NM_001970.5(EIF5A):c.77G>C (p.Arg26Pro)
|
rs2143008740
|
|
NM_002069.6(GNAI1):c.143C>A (p.Thr48Lys)
|
rs1788434338
|
|
NM_002107.7(H3-3A):c.250C>G (p.Arg84Gly)
|
rs1657904113
|
|
NM_002180.3(IGHMBP2):c.1391A>G (p.His464Arg)
|
rs2154008611
|
|
NM_002529.4(NTRK1):c.303T>A (p.Ser101Arg)
|
rs2102886126
|
|
NM_002971.6(SATB1):c.1782del (p.Gln594fs)
|
rs2125123704
|
|
NM_003024.3(ITSN1):c.2772G>A (p.Trp924Ter)
|
|
|
NM_003031.4(SIAH1):c.149C>T (p.Pro50Leu)
|
rs2151044134
|
|
NM_003036.4(SKI):c.1026del (p.Gln342fs)
|
rs2100916221
|
|
NM_003128.3(SPTBN1):c.1922G>A (p.Trp641Ter)
|
|
|
NM_003128.3(SPTBN1):c.811G>A (p.Val271Met)
|
rs2103866400
|
|
NM_003403.5(YY1):c.1150G>A (p.Val384Met)
|
rs2139605815
|
|
NM_003491.4(NAA10):c.47A>C (p.His16Pro)
|
rs2065185202
|
|
NM_003590.5(CUL3):c.562C>T (p.Gln188Ter)
|
rs2106221030
|
|
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn)
|
rs1057518995
|
|
NM_003718.5(CDK13):c.2317G>C (p.Asp773His)
|
|
|
NM_003793.4(CTSF):c.1159G>A (p.Glu387Lys)
|
rs2134950483
|
|
NM_003793.4(CTSF):c.600_603del (p.Glu202fs)
|
rs2134954582
|
|
NM_004069.6(AP2S1):c.28C>T (p.Arg10Trp)
|
rs1064795235
|
|
NM_004247.4(EFTUD2):c.1414-2A>G
|
rs1597797917
|
|
NM_004370.6(COL12A1):c.9053G>A (p.Gly3018Asp)
|
rs2149322991
|
|
NM_004456.5(EZH2):c.457T>C (p.Tyr153His)
|
rs2129476917
|
|
NM_004491.5(ARHGAP35):c.1600C>T (p.Gln534Ter)
|
rs2056190516
|
|
NM_004523.4(KIF11):c.758_767dup (p.Lys257fs)
|
rs2135904903
|
|
NM_004630.4(SF1):c.221del (p.Pro74fs)
|
rs1430022410
|
|
NM_004793.4(LONP1):c.2026C>T (p.Pro676Ser)
|
rs879255247
|
|
NM_004818.3(DDX23):c.1912C>T (p.Arg638Cys)
|
rs2137480864
|
|
NM_004859.4(CLTC):c.3367_3368del (p.Glu1123fs)
|
rs2143592425
|
|
NM_004973.4(JARID2):c.2731+1G>C
|
rs2127756207
|
|
NM_004973.4(JARID2):c.2731+5G>A
|
rs2127756209
|
|
NM_004974.4(KCNA2):c.894_895delinsTT (p.Leu298_Val299delinsPheLeu)
|
rs2101398625
|
|
NM_005121.3(MED13):c.1771C>T (p.Gln591Ter)
|
rs752067544
|
|
NM_005253.4(FOSL2):c.810_811del (p.Pro271fs)
|
rs2148100720
|
|
NM_005321.3(H1-4):c.464dup (p.Lys157fs)
|
rs1581429554
|
|
NM_005412.6(SHMT2):c.1135A>G (p.Asn379Asp)
|
rs2037432429
|
|
NM_005412.6(SHMT2):c.557C>G (p.Thr186Arg)
|
rs769908186
|
|
NM_005629.4(SLC6A8):c.1252C>A (p.Gln418Lys)
|
rs2148363775
|
|
NM_005639.3(SYT1):c.476T>G (p.Leu159Arg)
|
rs2138866856
|
|
NM_005862.3(STAG1):c.132+5G>A
|
rs2107831013
|
|
NM_005862.3(STAG1):c.964_965insCT (p.Tyr322fs)
|
rs2107821339
|
|
NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter)
|
rs1580026238
|
|
NM_006035.4(CDC42BPB):c.3615G>A (p.Trp1205Ter)
|
rs1346688931
|
|
NM_006494.4(ERF):c.1201_1202del (p.Lys401fs)
|
rs1064794325
|
|
NM_006593.4(TBR1):c.1174C>T (p.Arg392Trp)
|
rs2105280472
|
|
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)
|
rs869312704
|
|
NM_006662.3(SRCAP):c.1143_1153delinsTGT (p.Pro382fs)
|
rs2151287951
|
|
NM_006662.3(SRCAP):c.1174C>T (p.Gln392Ter)
|
rs1555463754
|
|
NM_006662.3(SRCAP):c.148del (p.His50fs)
|
rs2052800289
|
|
NM_006662.3(SRCAP):c.1608_1611delinsCA (p.Gln537fs)
|
rs2151288511
|
|
NM_006662.3(SRCAP):c.1793del (p.Gly598fs)
|
rs2151288590
|
|
NM_006662.3(SRCAP):c.2518C>T (p.Arg840Ter)
|
rs1232266542
|
|
NM_006662.3(SRCAP):c.3833C>A (p.Ser1278Ter)
|
rs755307689
|
|
NM_006662.3(SRCAP):c.3893-2A>G
|
rs2151293617
|
|
NM_006662.3(SRCAP):c.4200_4204del (p.Leu1401fs)
|
rs2151293907
|
|
NM_006662.3(SRCAP):c.435del (p.Gln145fs)
|
rs2151286256
|
|
NM_006662.3(SRCAP):c.4557_4560del (p.Gln1519fs)
|
rs1567248015
|
|
NM_006662.3(SRCAP):c.4648del (p.Val1550fs)
|
rs2151294192
|
|
NM_006662.3(SRCAP):c.4925T>A (p.Leu1642Ter)
|
rs2151294378
|
|
NM_006662.3(SRCAP):c.5102_5103del (p.Ser1701fs)
|
rs2151294456
|
|
NM_006662.3(SRCAP):c.5387del (p.Pro1796fs)
|
rs2151294574
|
|
NM_006662.3(SRCAP):c.5461delinsAGA (p.Ser1821fs)
|
rs1555464955
|
|
NM_006662.3(SRCAP):c.55-1G>A
|
rs2151284583
|
|
NM_006662.3(SRCAP):c.5527del (p.Val1843fs)
|
rs2151294647
|
|
NM_006662.3(SRCAP):c.5549_5556del (p.Thr1850fs)
|
rs2151294652
|
|
NM_006662.3(SRCAP):c.5633dup (p.Pro1879fs)
|
rs748467821
|
|
NM_006662.3(SRCAP):c.5977_5980del (p.Cys1993fs)
|
rs2151296560
|
|
NM_006662.3(SRCAP):c.5984del (p.Pro1995fs)
|
rs2151296564
|
|
NM_006662.3(SRCAP):c.6208C>T (p.Arg2070Ter)
|
rs2151298248
|
|
NM_006662.3(SRCAP):c.6889del (p.Arg2297fs)
|
rs2151299623
|
|
NM_006662.3(SRCAP):c.6901del (p.Glu2301fs)
|
rs2151299633
|
|
NM_006662.3(SRCAP):c.833del (p.Pro278fs)
|
rs886041787
|
|
NM_006662.3(SRCAP):c.8592dup (p.Lys2865fs)
|
rs2053186315
|
|
NM_006662.3(SRCAP):c.9126dup (p.Gln3043fs)
|
rs2151301216
|
|
NM_006766.5(KAT6A):c.5701del (p.Val1901fs)
|
rs2150854704
|
|
NM_006772.3(SYNGAP1):c.388-3C>G
|
rs1448169616
|
|
NM_006852.6(TLK2):c.717_718del (p.Arg240fs)
|
rs2146228345
|
|
NM_006852.6(TLK2):c.887T>C (p.Leu296Pro)
|
rs2079641759
|
|
NM_006885.4(ZFHX3):c.3355C>T (p.Arg1119Ter)
|
|
|
NM_006885.4(ZFHX3):c.5749G>T (p.Glu1917Ter)
|
|
|
NM_006885.4(ZFHX3):c.6040C>T (p.Gln2014Ter)
|
|
|
NM_006885.4(ZFHX3):c.8002C>T (p.Arg2668Ter)
|
|
|
NM_006922.4(SCN3A):c.5003T>C (p.Ile1668Thr)
|
rs1685081916
|
|
NM_007129.5:c.264T>G
|
|
|
NM_007187.5(WBP4):c.440-1G>A
|
|
|
NM_007187.5(WBP4):c.499del (p.Thr167fs)
|
|
|
NM_007187.5(WBP4):c.668C>G (p.Ser223Ter)
|
|
|
NM_007187.5(WBP4):c.944del (p.Pro315fs)
|
|
|
NM_007279.3(U2AF2):c.746T>A (p.Val249Asp)
|
rs2123691990
|
|
NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu)
|
rs1569442989
|
|
NM_012154.5(AGO2):c.2140C>T (p.Arg714Trp)
|
rs866981753
|
|
NM_013275.6(ANKRD11):c.3882_3885dup (p.Ser1296fs)
|
rs1597454239
|
|
NM_013275.6(ANKRD11):c.6288_6289insT (p.Pro2097fs)
|
|
|
NM_013275.6(ANKRD11):c.7168C>T (p.Gln2390Ter)
|
rs2151730424
|
|
NM_014225.6(PPP2R1A):c.522C>G (p.Cys174Trp)
|
rs2122334423
|
|
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)
|
rs1673582111
|
|
NM_014515.7(CNOT2):c.1621dup (p.Ter541LeuextTer?)
|
rs2136104001
|
|
NM_014795.4(ZEB2):c.1384_1385del (p.Lys462fs)
|
|
|
NM_014927.5(CNKSR2):c.2300C>T (p.Ser767Phe)
|
rs1569272271
|
|
NM_015015.3(KDM4B):c.1135C>T (p.Gln379Ter)
|
rs2146018043
|
|
NM_015021.3(ZNF292):c.1160del (p.Arg387fs)
|
rs1775120706
|
|
NM_015021.3(ZNF292):c.1360C>T (p.Arg454Ter)
|
rs1215967523
|
|
NM_015021.3(ZNF292):c.1567C>T (p.Gln523Ter)
|
rs1775143865
|
|
NM_015021.3(ZNF292):c.2170del (p.Cys724fs)
|
rs1775179321
|
|
NM_015021.3(ZNF292):c.2490_2494dup (p.Ser832fs)
|
rs1775194783
|
|
NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter)
|
rs865909396
|
|
NM_015021.3(ZNF292):c.2814_2821dup (p.Val941fs)
|
rs1775218146
|
|
NM_015021.3(ZNF292):c.3066_3069del (p.Glu1022fs)
|
rs1135401779
|
|
NM_015021.3(ZNF292):c.3460_3463del (p.Val1154fs)
|
rs1775264625
|
|
NM_015021.3(ZNF292):c.3709dup (p.Thr1237fs)
|
rs1775284293
|
|
NM_015021.3(ZNF292):c.3724del (p.Gln1242fs)
|
rs1775285095
|
|
NM_015021.3(ZNF292):c.3812C>A (p.Ser1271Ter)
|
rs772762833
|
|
NM_015021.3(ZNF292):c.433del (p.Ser145fs)
|
rs1772907934
|
|
NM_015021.3(ZNF292):c.4417dup (p.Ser1473fs)
|
rs1775334064
|
|
NM_015021.3(ZNF292):c.4897A>T (p.Lys1633Ter)
|
rs1775368255
|
|
NM_015021.3(ZNF292):c.5185C>T (p.Gln1729Ter)
|
rs1280838951
|
|
NM_015021.3(ZNF292):c.5515_5569del (p.Glu1839fs)
|
rs1775415071
|
|
NM_015021.3(ZNF292):c.5959_5965dup (p.Gly1989fs)
|
rs1775442122
|
|
NM_015021.3(ZNF292):c.6142_6145del (p.Lys2048fs)
|
rs764995318
|
|
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)
|
rs1301328139
|
|
NM_015021.3(ZNF292):c.6279dup (p.Arg2094fs)
|
rs1775468280
|
|
NM_015021.3(ZNF292):c.6343C>T (p.Arg2115Ter)
|
rs866467799
|
|
NM_015021.3(ZNF292):c.6541C>T (p.Arg2181Ter)
|
rs377387515
|
|
NM_015100.4(POGZ):c.1535A>G (p.His512Arg)
|
|
|
NM_015215.4(CAMTA1):c.2871_2883del (p.Thr959fs)
|
rs2096136332
|
|
NM_015215.4(CAMTA1):c.487C>G (p.Arg163Gly)
|
|
|
NM_015557.3(CHD5):c.4171+5G>A
|
rs2100843378
|
|
NM_015559.3(SETBP1):c.3155_3159del (p.Gly1052fs)
|
rs2145110485
|
|
NM_016169.4(SUFU):c.555dup (p.Gln186fs)
|
rs2135867122
|
|
NM_016628.5(WAC):c.506_507del (p.Arg169fs)
|
|
|
NM_017736.5(THUMPD1):c.771GTT[1] (p.Leu258del)
|
rs772419789
|
|
NM_017872.5(THG1L):c.182A>C (p.Asn61Thr)
|
rs2113025862
|
|
NM_017882.3(CLN6):c.782T>C (p.Phe261Ser)
|
rs2141136011
|
|
NM_017882.3(CLN6):c.818T>C (p.Val273Ala)
|
rs2141135967
|
|
NM_018486.3(HDAC8):c.415G>A (p.Gly139Arg)
|
rs2147590837
|
|
NM_018489.3(ASH1L):c.6136C>T (p.Gln2046Ter)
|
|
|
NM_018684.4(ZC4H2):c.601C>T (p.Pro201Ser)
|
rs398122939
|
|
NM_020791.4(TAOK1):c.1436dup (p.Met479fs)
|
rs2153029219
|
|
NM_020791.4(TAOK1):c.1960C>T (p.Arg654Ter)
|
rs2031934299
|
|
NM_020791.4(TAOK1):c.227A>C (p.Glu76Ala)
|
|
|
NM_020791.4(TAOK1):c.332C>T (p.Ser111Phe)
|
rs2030976698
|
|
NM_020944.3(GBA2):c.2330A>C (p.His777Pro)
|
|
|
NM_020944.3(GBA2):c.2617C>T (p.Arg873Cys)
|
|
|
NM_021614.4(KCNN2):c.1771G>C (p.Gly591Arg)
|
rs2150115220
|
|
NM_022455.5(NSD1):c.6096G>C (p.Trp2032Cys)
|
rs1581535605
|
|
NM_022455.5(NSD1):c.6655del (p.Arg2219fs)
|
rs2127279646
|
|
NM_022552.5(DNMT3A):c.2693T>C (p.Ile898Thr)
|
rs960019580
|
|
NM_024496.4(IRF2BPL):c.285_322del (p.Ala102fs)
|
rs1594798157
|
|
NM_024665.7(TBL1XR1):c.803C>T (p.Pro268Leu)
|
rs2108479510
|
|
NM_024721.5(ZFHX4):c.3965-1G>A
|
rs1812496169
|
|
NM_024721.5(ZFHX4):c.4223_4224del (p.Thr1408fs)
|
rs2131940356
|
|
NM_030665.4(RAI1):c.4519_4547dup (p.Cys1516fs)
|
|
|
NM_032242.4(PLXNA1):c.1574_1575del (p.Leu525fs)
|
rs2079056783
|
|
NM_032242.4(PLXNA1):c.2446T>C (p.Cys816Arg)
|
rs2079109807
|
|
NM_032242.4(PLXNA1):c.356T>C (p.Leu119Pro)
|
rs2107620082
|
|
NM_032242.4(PLXNA1):c.5242C>T (p.Arg1748Cys)
|
rs2079215968
|
|
NM_032436.4(CHAMP1):c.969G>A (p.Trp323Ter)
|
rs2139419874
|
|
NM_032536.4(NTNG2):c.1065C>G (p.Cys355Trp)
|
rs1589568476
|
|
NM_032536.4(NTNG2):c.1076C>G (p.Ser359Cys)
|
rs1589568530
|
|
NM_032536.4(NTNG2):c.1367G>A (p.Cys456Tyr)
|
rs1589576879
|
|
NM_032536.4(NTNG2):c.242G>A (p.Cys81Tyr)
|
rs1589440982
|
|
NM_032536.4(NTNG2):c.319T>G (p.Trp107Gly)
|
rs1589441229
|
|
NM_032536.4(NTNG2):c.446T>C (p.Met149Thr)
|
rs1589441679
|
|
NM_032536.4(NTNG2):c.599C>T (p.Ser200Leu)
|
rs1227245973
|
|
NM_033109.5(PNPT1):c.420del (p.Leu141fs)
|
rs1572834021
|
|
NM_033629.6(TREX1):c.82del (p.Gln28fs)
|
|
|
NM_057175.5(NAA15):c.1410+1G>T
|
|
|
NM_057175.5(NAA15):c.1841del (p.Asn614fs)
|
|
|
NM_057175.5(NAA15):c.218T>C (p.Leu73Ser)
|
rs2110902008
|
|
NM_080546.5(SLC44A1):c.1009C>T (p.Gln337Ter)
|
rs1588833694
|
|
NM_080632.3(UPF3B):c.263+3A>T
|
rs2147802765
|
|
NM_133433.4(NIPBL):c.7861-1G>T
|
|
|
NM_134261.3(RORA):c.626_627del (p.Pro209fs)
|
rs2141319872
|
|
NM_134261.3(RORA):c.900G>A (p.Trp300Ter)
|
rs2141286330
|
|
NM_145207.3(AFG2A):c.2174T>C (p.Phe725Ser)
|
|
|
NM_152641.4(ARID2):c.4923-1G>C
|
rs79280775
|
|
NM_153252.5(BRWD3):c.3413G>A (p.Trp1138Ter)
|
|
|
NM_153816.6(SNX14):c.512del (p.Arg171fs)
|
rs769742160
|
|
NM_171998.4(RAB39B):c.189G>T (p.Trp63Cys)
|
rs1569561107
|
|
NM_172107.4(KCNQ2):c.880dup (p.Ala294fs)
|
|
|
NM_181552.4(CUX1):c.1576del (p.Ser526fs)
|
rs2131983329
|
|
NM_182641.4(BPTF):c.7747_7750del (p.Asp2583fs)
|
|
|
NM_182931.3(KMT2E):c.685A>T (p.Lys229Ter)
|
rs2129567978
|
|
NM_197968.4(ZMYM2):c.1020_1024dup (p.Gln342fs)
|
rs2139911544
|
|
NM_197968.4(ZMYM2):c.1397dup (p.Cys466fs)
|
rs2139974701
|
|
NM_197968.4(ZMYM2):c.3388C>T (p.Arg1130Ter)
|
rs1299725201
|
|
NM_198576.4(AGRN):c.5909A>G (p.Asn1970Ser)
|
rs1167765853
|
|
NM_199334.5(THRA):c.1132_1141del (p.Gly378fs)
|
rs2145087228
|
|
Single allele
|
|
|