Primary Outcomes

Description: • DNA analysis: Genomic DNA will be extracted from EDTA-anticoagulated peripheral blood (QIAamp DNA Blood mini kit,QIAGEN). • Genotyping of SCN1A c.3184 A/G(rs2298771) polymorphism

Measure: Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:

Time: 5-7 days

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HP:0001250: Seizure

Genes 2672

TWIST1 VPS11 CTBP1 SLC1A4 HEPACAM SLC12A6 ELMO2 PHF6 GLRA1 KCNJ1 PIGH TCIRG1 MCPH1 EDN3 MICOS13 SYNJ1 CLN6 PRRT2 IL17F KCNAB2 CHRNA4 ARHGAP31 ARX COX1 SAMD12 TSFM FGFR3 EPCAM POLG CLP1 ATP1A3 PLPBP UPF3B GABRG2 CASP10 KCNJ11 CC2D2A SIX3 MOGS NLGN3 SLC2A1 NDUFS7 CHD2 TMEM138 PCYT1A SLC13A5 NSD1 FGFR3 ERMARD SCN8A ARHGEF6 KMT2A HCCS GLA CCR1 WWOX TRNL1 PRRT2 LAMA2 AUH CNPY3 BPTF NUP133 GABRD HAX1 IREB2 ANOS1 VPS13A B9D1 KCNK4 FAM111A ARX HESX1 NDUFAF6 DLG4 GBA RPIA ZC3H14 ATP6AP2 SCN1A TRNT CAMK2B CPS1 MARCHF6 GNAS BCOR ESCO2 TCTN2 PRRT2 FTL MECP2 DHFR OCLN POMGNT1 KMT2D SARDH TREX1 SLC19A2 HGSNAT SERAC1 SCN8A BUB3 DDX3X NALCN ARL3 AQP2 GABRG2 ATRX AKT3 SCARB2 ARSA KDM6B PLP1 ATP5F1D TBR1 GLA SYN1 FGFR1 FA2H PEX7 LYST NDUFV1 FBXO11 NBAS FAR1 RAB18 FLRT3 ARSA IQCB1 TBC1D20 ROGDI CILK1 ABCC8 MPL SLC16A1 TOE1 MFSD8 FGF8 SALL4 JAM2 SDHA EBP SRD5A3 LMAN2L NEXMIF CPT2 NHLRC1 EEF1A2 MAGEL2 CLPB UFD1 LETM1 TDGF1 HTRA1 KIAA0586 SNORD115-1 ZFYVE26 CTC1 HACE1 RAC1 TBCE ATP6V1B2 SH2B1 RARS1 MECP2 SPTAN1 GPC1 KIF2A CASQ2 COX6B1 MTR SLC9A6 NTRK2 PPP2R5D DNMT3A DCC COX14 TRNW GPR161 EP300 POU3F4 AIFM1 CLTC ALG13 BAP1 B3GALNT2 TSC2 ANKRD11 EXTL3 DEAF1 ITPA SIN3A HESX1 GABRA1 HCN1 HESX1 FKTN PLK4 CACNB4 PIGP ALG9 CRPPA NDUFS6 ZFP57 FGFR2 NFIX IL23R TULP1 PEX12 ERCC3 TSEN54 EFTUD2 FRRS1L UBA5 ATP13A2 SMAD4 PEX5 L1CAM PDHX ATP6V0A2 ERLIN2 NANS BTD GNAO1 ADAR BCR CEP41 PCK1 IQSEC2 IFIH1 ATP5F1A CARS2 DNAJC5 CRIPT PGAP1 MLC1 KCNE1 STT3A STAG2 MSH6 CFHR1 CREBBP OTUD6B TPK1 MN1 POLG CTSA ATP1A2 DIAPH1 DCC UGP2 PREPL SLC25A1 PARS2 ACADM IQSEC1 FKTN IRAK1 MEN1 ATRX CC2D2A MAST1 RAB39B EZH2 GCK UNC93B1 TNFRSF11B ND6 AKT1 CIC VPS53 NSD2 TRAPPC12 FBP1 RAB18 CHRNA7 PEX2 SLC22A5 ASPA HMGCL APP MED12 PPP2R1A LARS2 VPS13B TRNL1 GUCY2D NODAL TANGO2 KCNA1 PRDX1 KCNMA1 PEX13 SMARCE1 ALPL SLC18A3 KIAA1109 MTFMT HECW2 FA2H KCNJ10 USP7 PPP2R1A HUWE1 ARX PTEN ERMARD BRAT1 PIGN PIGT ST3GAL3 KCNA1 RPL10 NDUFAF3 NIPA1 PTEN SCN2A PRRT2 KCNA2 TCF4 HIVEP2 CYB5R3 NUS1 ERCC4 DLL1 QARS1 ATP6AP2 TRNF MTRR L2HGDH FLVCR1 ND6 NR2F1 GNAS MED12 SCN1B POU1F1 PDE6D PAH ASAH1 SDHD CAMKMT DNM1 ABCC8 ASNS NSDHL EIF2B3 GRM1 RTTN ABCC8 SC5D STXBP1 NAGS CHD1 STRADA PRICKLE1 PMS2 PIGM MANBA FKRP MAPK8IP3 TACO1 SMARCD1 POLA1 UBTF TRNF RPS6KA3 NAT8L OTC MSX2 PIGL PDCD10 AVPR2 CPT2 AMER1 ISCA1 GCDH SPATA5 FGFR3 TUBB3 PRDM16 VAMP2 MRPS22 PLA2G6 PRRT2 STX1B FTSJ1 HLCS MANBA MED12 TBCK PROP1 TNFRSF11A ARHGAP31 HNRNPU PIGC SLC9A6 PEX13 COG4 RREB1 PEX11B AP4M1 CAD TSC2 STT3B LBR PAH TUBGCP4 GABRD PHOX2B SCN2A RFT1 ABCD1 GYS2 PEX3 PC NAGA FAM111A FMN2 RET ACTB GLI3 USP18 HTRA2 PEX19 PEX1 PIGP GABRA1 TRMT10A CACNA1A POMK MYO5A RPE65 BDNF CYTB NAGLU COA8 TMTC3 PPT1 POMGNT1 KIF5A KCNJ11 SMARCB1 COQ8A TRDN SP110 HLA-B KCNMA1 PSMD12 PIGW BCOR CNTNAP1 APP FAS CNKSR2 MMACHC TMEM165 MBTPS2 NEU1 MOGS DISP1 FCSK ERCC5 SNTA1 MTHFD1 COX10 LRP2 ADAT3 PEX2 SEMA4A ATP6V0A2 TWNK COG2 BCL11B FGFR3 EEF1A2 NAA10 GLI3 CYFIP2 EIF2B5 PIK3CA TBC1D24 ATIC CCBE1 PRDM8 DOCK7 TRAF3 BCKDHA TOE1 SOX2 TRAF7 MKS1 TRAPPC2L PCYT2 C12ORF4 GMPPB EARS2 ZDHHC9 TREX1 GP1BB RHOBTB2 NEDD4L HPD PIK3CA EPRS1 MIPEP SLC12A3 SLC12A5 GLYCTK PTCHD1 ACSL4 MC1R CERT1 TACO1 TET3 PGAP2 ATN1 SLC6A8 PEX11B BSCL2 HLCS PCNT COL3A1 SLC17A5 ADAT3 LIG4 TRNS1 GBA ERCC6 ALG3 BMPR1A GABRA1 ERCC3 FGFR2 EXT2 SMC3 SLC2A1 SCN3A EPG5 SLC25A22 CACNA1A PIK3R2 FMN2 NDUFV2 TRNP POLG CLCNKB WDR26 BRAT1 IRF3 BRAF CRKL FAM111A CACNA1E NAGA FMR1 PTS LGI1 RTTN STAT4 AP4S1 MMADHC YEATS2 CDK13 TMEM106B GABRB3 TBCE CBS PIGO HRAS ATP6 SNAP29 ADAMTS3 PIGL ACSF3 PAK3 OAT CERS1 GLI2 STXBP1 L1CAM CDC42 TMEM67 TBX1 SLC25A15 CD96 CNTNAP2 GMPPB MLH1 DPH1 MPC1 CYP27B1 RPGRIP1L SETD5 OTUD6B TUBB2A MECP2 BMP4 PRPS1 ENG KIF11 POGZ PHKG2 DDOST NMNAT1 ND4 MGAT2 PPP2CA PRNP CNTNAP2 KCNT2 SCN11A ASXL2 KDM5C PEX10 ACY1 DHCR24 DHX37 PIGW DMD TMEM106B SNRPN SLC35A3 TBC1D24 FRRS1L CHRNA2 FOXRED1 TRAPPC4 PEX6 MTFMT AKT2 CDK10 SCN1A RNU12 PHKA2 RNASEH2A KCNQ3 PERP ETHE1 CBS UPB1 TRNV PSAP NDUFB11 SLC25A19 PDE10A AHI1 SMARCE1 ZSWIM6 TMX2 KIF7 ANKRD11 CACNA1D CUL4B NDUFB11 ANKLE2 BUB1B SYNJ1 GM2A CALM2 TDP1 SCN3A AMT CRX RNASET2 MCCC2 TBCE FAT4 KDM6A RPS6KA3 CLIC2 CFHR3 OSGEP SNX14 SMS PIGY NDUFS1 TMEM231 LIPT1 SOX3 HTT ALDH4A1 SUCLA2 EIF2B4 PSAP JAK2 NARS2 SURF1 CDKL5 TREM2 NOTCH3 NUS1 SPTAN1 NUBPL NDUFS8 NADK2 GSS GABRB3 DPM2 GABRG2 ATR RRM2B GNAQ ADGRV1 TRNC CLIC2 TSC1 CACNA1C FGFRL1 FUT8 DPYD GDNF PDP1 TBX1 WDR4 SYNJ1 HADH JRK ADD3 CDKL5 ALG11 ACY1 CHRNA7 ZNF592 TRAK1 XPC PPP3CA KANSL1 NDUFAF8 AIPL1 ERCC8 AP4E1 SLC5A7 PHGDH HRAS TRNQ TRIP12 CYP27B1 IL1RAPL1 RARS2 CACNA1C GABRA2 KMT2A GPSM2 KDM5C MTOR DIP2B TBCD SCN10A COL13A1 DOCK6 ZC4H2 LRP2 PEX1 ALG3 GCH1 CLCN2 UFC1 SIX3 WWOX NRAS DNAJC6 PLAGL1 NTNG2 NADK2 MLYCD AKT3 RPGRIP1L DLL4 MBOAT7 RERE UQCC2 ROBO3 CTSA NDN MAPK1 GCK LAMA2 CTU2 MBOAT7 LRPPRC TRAPPC6B ASPM HNRNPH2 XPR1 TRNS1 GAMT GRM1 TBC1D24 CCDC141 CPLANE1 PUS3 TSPAN7 CCDC141 KAT6A PTPN22 RAI1 SPP1 STAMBP HLA-DPB1 PRRT2 TMEM216 DHDDS RDH12 CDON FARS2 PPA2 CLN3 ASXL3 TRNS1 SRPX2 TECPR2 ARX ROBO1 TWNK ARSA TRNH NAGS PEX11B PIGV PEX6 CEP290 MED12 CACNA1A TMEM237 CRADD RPL10 DARS2 MYO9A PEX14 RNR1 PROP1 GPT2 IL12A PRF1 DMXL2 SLC6A5 FCGR2B TUBA1A SCN10A FAR1 GTPBP2 KCNQ2 MMAA CAV3 PEX12 SGPL1 METTL23 MOCS2 GRN CC2D2A ZNHIT3 DHCR24 FIG4 GABRB2 ABCC8 GCDH ARNT2 NSDHL NDUFAF5 NDUFA12 ADA2 NSD2 FRMPD4 SDHA CACNB4 TBL1XR1 LNPK NECAP1 MTOR NPRL3 KCNQ5 POMK CLN6 ALG1 KCNJ11 SLC25A15 FUCA1 VPS11 COA3 ARX HESX1 SUCLG1 MTM1 VDR PRSS12 ERCC6 GUF1 AP4B1 CNTN2 CDKL5 CHKB TRMT10A STXBP1 NELFA RXYLT1 NECTIN1 COX1 TBX1 CLP1 NSUN2 SLC12A5 DNM1L TRRAP RAB11B RPGRIP1L RSRC1 ASH1L ST3GAL3 PCSK1 PRTN3 EMC1 CCDC115 WDR81 DPM1 ZEB2 PCDH19 SLC35A1 CNNM2 PCDH19 PROKR2 PTS KCNA2 TARS1 ZNF711 FLVCR2 ALMS1 COX15 SYNGAP1 SON ATP8A2 STX16 OCLN KDM6A TUBGCP6 GATA6 NDE1 FGF17 GDI1 LHX4 GRN ARG1 RNASEH2C IL17RA COQ6 WDR45 CDKL5 NSD1 ERCC2 GPT2 BUB1 SYP COX2 COX20 RAB27A GPHN USP9X ANKH HDAC4 PPM1B GLS DOLK KCNQ2 IARS1 COG2 FAS IPW SNORD118 SLC2A1 PYCR2 ARFGEF2 CPLANE1 ARX DOCK6 GLUD1 PEX2 ASAH1 SCN2A SON STT3B PRKAG2 SATB2 TECPR2 MFSD2A FKRP BRAF OPA1 USP45 DEAF1 ACO2 KCNE2 GBA NALCN KCNE1 SCO1 NDUFAF6 ARID1A ADRA2B ALDH7A1 ATP6V1A SLC46A1 DLG3 SLC1A3 RANBP2 KAT6B ABCA5 FGFR1 CRADD LSS ACTL6B FTSJ1 CDH15 ALG11 KMT5B CSF1R TREX1 TRNP LINS1 EGF CPT2 CTNNB1 HADHA COX7B RAB3GAP2 SETD2 PET100 SAMD9 DBT GNE GLI3 GP1BA ARX CASK COG8 WDR11 CENPE ATP1A3 PDCD10 RFT1 SCN9A CSPP1 SLC25A20 NRAS GNAO1 CXORF56 GNAQ WARS2 AUH ALDH3A2 ECE1 PEX10 HIBCH UBE2A SIK1 SERPINI1 CPLX1 NTRK2 MYO1H SLC2A1 CC2D2A COX3 GABRB1 LAMA2 HCN1 ATRX TRNI ZIC2 PGK1 KAT6A MECP2 MYORG SUCLA2 TDP2 CTNNB1 KCNH1 HDAC8 NIPBL ASXL1 DCPS KATNIP PTRH2 RSRC1 ANK1 CDKL5 CA8 ALDOB NDUFAF5 LETM1 AVPR2 GRIN2A CNNM2 INS SLC13A5 PIGC MBTPS2 TWNK ABCC8 TRAF7 PIGN GABBR2 APC2 STARD7 AP2M1 PIGA AIFM1 TPRKB MORC2 CAMK2A TP53 PMPCB ATN1 GAD1 CDH23 EBP GTPBP3 ASXL3 HUWE1 KRIT1 AMPD2 ANO10 NOTCH2NLC PROKR2 KCNQ2 WAC TREM2 NIN DPYS TRIM8 ASXL1 MYO5A TXNRD2 MECP2 SLC19A3 HMGCS2 PNPO TRNN FBP1 HERC2 SLC46A1 ANK2 NOTCH1 IER3IP1 ADAMTSL2 TSC2 CYFIP2 CTNND2 TRAF3IP2 VCP FAN1 PUM1 PLA2G6 ZNF423 NDUFAF4 DPF2 NDUFAF2 TYROBP NSUN2 CUL4B EFTUD2 AIMP1 MBD5 TWNK NNT CCDC88A SCN2A PROK2 TICAM1 GNE TERT ACVR1 KLLN ENG TTR DNM1 ATP6V0A2 INPP5E TRNF XPA SORL1 LMX1B PSPH KCNJ5 GJC2 OCRL USP27X PPP1R15B PIGT KIF4A MC2R PNPO KCNN3 ARHGEF9 SRPX2 DHCR7 PDE4D ATAD1 TK2 OPHN1 GFAP RASGRP1 PSPH POGZ ANTXR1 PSEN1 AP4M1 NDUFA1 KCNQ3 PTF1A PCDH12 ADGRG1 KCNH2 TMEM237 KIF7 SCN9A EHMT1 IBA57 HCN1 KIAA0753 GNB1 DNMT3A KLF13 LARGE1 RPL10 NNT HNF4A PQBP1 ARG1 FRG1 FOXG1 GRIA4 CTSF NDUFA2 SLC3A1 ATXN10 CEP290 ALPL GLS ANKRD11 GLI2 JRK TRAPPC9 TUBB3 CRLF1 FOXA2 WDR73 KAT6B PLCB1 MPDU1 SDHA WDR4 TP53 PDX1 POMK PACS1 PIK3CA TP53RK KRAS TIMMDC1 GOT2 ND5 KRAS SET SPAST SLC1A3 PPP3CA NDUFS3 AP4E1 FBXL4 PEX13 WHCR SMARCE1 MAPRE2 TRIO METTL23 STX1B TGDS HMBS ERMARD ATP6AP2 HCCS TREX1 RELN DNASE1 ARF1 DPM2 GLRA1 PSEN1 USF3 CCNQ STUB1 FKTN ATIC USP9X ND5 SLC35A2 ANGPTL6 B3GALNT2 CAMTA1 PEX16 PEX3 NDE1 PIGA CHD7 ZNF142 EIF2AK3 ENG SCN1A RAB39B ARF1 UBA5 SIK1 USP9X KRIT1 MBTPS2 CLEC7A BTD SLC25A42 KPTN KCNQ2 PEX14 MAP1B ERLIN2 JAM2 WDR73 TRNK FGFR1 LMNB2 FUCA1 TUBA8 GNB1 PROKR2 KMT2D FGFR3 CAMTA1 GLB1 SLC6A8 CHD2 CLCN4 LMAN2L TSC2 NKX6-2 KCNJ13 POMT1 CHRNB2 TOMM40 SGSH SLC13A5 B4GAT1 ARID1B PTEN RUBCN SCN8A SCN8A TCF4 GPC3 SASS6 MEFV NDUFV1 OSTM1 CTLA4 DEPDC5 CLTC KCNQ1 ATRX ADSL BOLA3 SETBP1 SLC1A2 MED25 SLC2A1 TSC1 TRAK1 ATM KCNH1 FXYD2 MTRR RNASEH2A PEX1 TUBA8 ADGRV1 NFIX DHDDS DHPS ND4 PROC MLH3 LGI4 MSH2 RNF213 POLG2 ATP7A ALDH7A1 KCNQ3 MEGF10 TWNK EEF1A2 CFH ATP1A3 COL3A1 MTHFS PAFAH1B1 WDR45 ABAT GJA1 AKT1 SDHB ARX TRNL1 SLC2A1 DYNC1I2 EGF RNF113A SETBP1 RAI1 ANK3 HIBCH SLC35A2 TFAP2A L2HGDH PTCH1 KCNH1 PIGQ DLD INPP5E GATAD2B PDSS2 HDAC8 CKAP2L KCNH1 PEX12 PCCA CLDN16 PEX10 NEK1 HADH NUP107 CUX2 GABRG2 MAPT CACNA1B TRAPPC12 TIMM50 SMARCB1 COX8A NRAS ARX KCNT1 STX11 AGA YWHAG SEPSECS RAD21 TBX19 NEDD4L C4A CASK MBD5 ALDH18A1 PURA FLCN RPS6KA3 EXOSC9 SLC39A8 SCN8A MMACHC PSAT1 COL4A2 BCS1L SLC25A20 PSMB8 DSTYK EIF3F KLHL7 LAMB1 WFS1 PEX12 TRAPPC11 CUX2 TRAPPC9 VARS1 GEMIN4 TCTN1 NDUFA11 TSEN54 TAF1 CRB1 KISS1R TPP1 ASCL1 MED23 OFD1 NTNG1 PDGFRB HYMAI ALKBH8 TRAPPC11 SSR4 OCRL PIK3R2 ARL13B ACTL6B SUFU ALX4 FAM126A SCN1B ATAD3A HSD17B4 KCNB1 ACAT1 PMM2 CEP104 AKT2 ND5 COG8 LARP7 TUBB2B TP53 SDHD LIAS NF2 FAS NPC1 AP4B1 GAMT PIGY COL18A1 KCTD7 CEP57 PSAP ETHE1 NTRK2 AGRN TUBB4A CLN5 POLG ERCC6 SMO SELENOI CPT1A NSD1 TK2 CTLA4 MACF1 HNF1A GRIN2B GPHN C12ORF57 PRDM8 TGFB1 SUMF1 OFD1 DGUOK ARMC9 POMGNT1 POMT1 SNRPN GALC PHF6 GCK COG6 ERCC2 COMT POMT2 GABRA1 STAT4 PEX5 PEX26 RAB27A PLAA ERAP1 MAFB GJC2 SOX5 NEU1 IVD KDM5B GTPBP3 NOTCH1 PPP2R5D PTH PDSS2 HIRA KCNQ1 TBCK PEX19 AKT1 PLA2G6 RNF125 GCK CPLX1 WFS1 PMS1 RAC1 TMEM94 ATN1 GNAO1 MAN1B1 TRNF SEC23B MICAL1 ZNF41 RERE ALX4 DNAJC6 IRF2BPL TBC1D24 HLA-B SDHD CYTB TRIO PROKR2 NAGA COL18A1 DDB2 ERLIN2 TRPV3 MEFV GATA4 C11ORF95 SYP NDST1 PACS1 NDUFA10 BCS1L SCN9A PLAGL1 GLRB NDUFS1 KCNC3 NTRK2 ND3 EIF2B1 MYH3 SLC9A7 ELOVL4 CEP164 SLC12A1 RYR2 SOX10 ND6 PWRN1 MED12 RPS20 CLPP SRPX2 FGFR2 KMT2A AGA GABRG2 NOTCH3 FGF12 PIBF1 IQSEC2 SLC13A5 ARID2 BCKDK NDUFA4 SLC35C1 CRBN PAH EIF2S3 ABCC8 PGAP1 SCN1B PDHA1 KCNA2 LMBRD1 MMADHC DNM1L AMACR ADA2 PMM2 ITGB6 TRNL1 HDAC8 MTO1 ALG2 GABBR2 PEX16 HSPD1 SLC33A1 OTX2 ARMC9 GNB5 TRIT1 ND1 ALAD C9ORF72 SCN2A OSTM1 PIK3CA CSNK2B DHCR7 RAB3GAP1 KMT2E BCKDHB GLUL TREX1 MGP SCN3A AMACR IL17RC PSAP ATXN10 NDUFB8 CCM2 SLC1A4 CCDC88C TCTN3 NF1 RECQL4 NGLY1 PEX16 SARS1 POLG KRAS TRAPPC11 ADSL SETBP1 ERCC5 TBX19 KRAS PGAP3 NDUFA13 GRIN1 TDP2 RNU4ATAC COQ8A TBC1D24 B3GLCT RAI1 HCFC1 KCNT1 ERCC1 COX7B GYS1 MEF2C NEUROD2 WASF1 POMGNT2 ARSA MEF2C PIK3CA CLCN2 NCAPD3 ND1 GALC CILK1 HS6ST1 PSAP SLC6A19 ALDOB SCN1A LAS1L SLC45A1 CNPY3 ARFGEF2 ND1 RELN LAGE3 COQ2 GAL HNF1B NAXD ATP1A1 SLC39A8 COX10 PIGG MC2R NACC1 DCX GABBR2 BCORL1 SLC25A1 POMC PSAP PRKDC PDGFB ADPRS ALG9 FKTN TBCE SLC12A6 FLNA MARCHF6 CASQ2 GBA NFASC UBE3A GNAS IKBKG PHOX2B HMGCL KCNJ11 TAT TGFBR2 AFG3L2 MED17 SIK1 CPA6 MECP2 SMPD1 NHLRC2 MYH14 HADHA SCN1A LARGE1 KCNQ2 INSR SPR SDHAF1 IKBKG POMT1 HCFC1 POLG POLE GLDC HEXA WDR11 POLG2 WDR45 EXTL3 TRNS2 PAFAH1B1 NDUFS4 UBA1 HS6ST2 GK SIN3A BCOR HTT PIGO POMT2 ASS1 TLK2 BCAP31 ARX POMT1 UBTF NONO COA8 ACTG1 GRIN2D CLPB SCN5A NDUFB8 THSD1 CASK TYROBP ARID1B ACSF3 GRIK2 TBK1 TREM2 TNIK BAP1 CRLF1 MMUT APP CEP41 NONO CDK8 CPA6 IFNG PQBP1 YWHAE MED25 ATAD1 SLC6A1 PTEN MEN1 MPDZ KIF15 GRIN2A ROGDI PEX5 TACR3 PSEN1 IL12B ACTG1 RNU4ATAC ACADSB ZNHIT3 GRIN2A PIGL NPRL2 ATM PIK3R2 INS SURF1 L1CAM CHD1 PRPS1 KCNQ3 PIGV STXBP1 FMR1 SMC1A RPGRIP1 ALG13 AKT1 FH GBA PACS2 PUF60 SLC35A3 DIS3L2 TSEN15 SMARCB1 SQSTM1 PGM3 DUSP6 ALG1 FOLR1 ERCC2 PDHA1 RUBCN TBC1D24 TBCE FLII JAM3 RANBP2 TBK1 FRMPD4 PNKP B3GALNT2 NDST1 SNORD116-1 NSMF DOCK7 ABCA7 NDUFS2 GLI3 EXT2 EOGT CHAT TSC1 ARL6IP6 ATP6V1A HMBS HIC1 GP1BB DLD F8 CXCR4 TRNK ATP2A2 TBCE MAN1B1 GATA6 GABRD POMT2 ADK SLC20A2 TBCD GRIN2B COLGALT1 PEX10 AFG3L2 SAMD12 APP NACC1 RAPGEF2 COG4 SMARCA4 SLC25A22 WDR73 ATP6V1E1 OTX2 OFD1 GABRA5 DPAGT1 KCNJ10 CNTN2 PSAP ABCC8 MTOR NUP133 SPINK5 PLPBP CENPJ CYP2R1 POMT2 HPRT1 TXN2 IFIH1 NDUFS7 HYLS1 PRKCD SETD2 PIGG AARS1 NDE1 SCN1B ABCC9 SCN1B FCGR2A ATP1A2 LAGE3 GNAS RELN TBL1XR1 CTH TRAPPC11 FEZF1 PLAA ZNF81 NOS3 PHACTR1 RD3 EFHC1 HACE1 GLE1 HEPACAM TMEM231 MPLKIP PDX1 KLHL15 CPT2 STS GPHN EFHC1 FOXG1 EFHC1 NLGN4X SUOX KCNJ11 ARX MYO5A COG7 STXBP1 LARGE1 KIF11 IFT140 IL12A-AS1 CNKSR2 ARID1B SLC6A19 FOXH1 STAG1 SCN1A RELA MLX PNPLA8 SLC1A2 PWAR1 PCCB GMPPB ECHS1 ADAM22 CPLX1 TDP1 CASR UGT1A1 THPO ATP6V1B2 SMC1A STAT3 RAB39B FGF8 GRIN2B BMP2 TRNT1 DBH EPM2A SCN9A ALG2 TRNK DYRK1A UFM1 BRAF FKTN TRNK SOX11 PET100 KLRC4 SLC17A5 ATP5F1A TRIP13 NDUFAF2 ZSWIM6 PIEZO2 GUF1 CRB2 PEX6 KIF1A ACVRL1 TELO2 KIF1A EML1 HSD17B10 WDR26 PRNP KCNB1 FADD FADD SNIP1 DENND5A SHANK3 SCO2 NDUFS2 PLK4 SLC25A22 CLIP1 SMARCA2 PSEN2 TMTC3 MRAP SPG11 USP7 MGP TLR3 TSEN2 CAMK2A GCM2 FLI1 NF1 GYS2 GPC4 LIPT2 GJC2 ANK3 GAS1 TMEM70 ALDH5A1 FASLG COX3 ASL STRADA MTHFR CNKSR2 UNC80 MCTP2 AP3D1 PEX1 COQ4 PIGN LARS1 EMG1 ARVCF FBXO31 MED25 MID2 CKAP2L PRUNE1 NFKB2 INPP5E TGIF1 KRAS IQSEC2 SKI COL4A1 SZT2 SDHC RBPJ AAAS MED13 FOXRED1 CCM2 GALC KCTD7 CISD2 TRNQ AQP2 EXT2 PODXL DHX30 RNASEH2B IL1RAPL1 GBA GMPPB TBP NRAS PTCH1 HERC1 AHI1 QDPR MAF COQ9 PNKP SMC1A PEX1 AVPR2 PEX16 KPTN SLC2A1 SPTBN4 STAG1 FGF12 SLC19A3 TBC1D23 CCND2 VLDLR STAR PRODH PEX5 RBM10 PEX19 PSMD12 SDHAF1 GABRG2 LCA5 XPR1 GJA1 MYRF PRRT2 SNAP25 TSC1 MID2 MEIS2 NDUFAF3 DPM1 MCCC1 FOXP1 SOX10 IQSEC2 ACOX1 NDUFS8 ACTA2 FGFR1 ATP7A GRIA3 TXN2 KCNA1 KCNMA1 SZT2 PEX6 XK OPHN1 GDI1 FBLN1 JMJD1C MECP2 INSR ST3GAL5 TCF20 GRIA3 ZBTB18 TMEM70 ZBTB18 AARS1 WDR62 CEP120 IVD TMLHE TBC1D20 TRNS2 PEX5 OSGEP AUTS2 UCP2 PPOX PSAP AP3B2 SMS EPM2A YWHAG NAA10 CHD2 IDS SMARCB1 COL1A2 ND5 PRODH NFIA TRNH ECM1 MSX2 SLC19A3 BUB1B EPG5 EHMT1 CDH11 SOX4 GABRD POMT2 ELP1 KCNMA1 CARS2 TRNS2 RAB39B ASPA MVK ARHGEF9 MFF NDP SCN2A LMNB2 ARID1A CSNK2A1 TBC1D24 SETD5 POLR3A CPT2 PYCR2 PCDH19 TRNW TBX1 TUSC3 B4GAT1 CCBE1 KCNJ6 CPT1A PPP1R15B GBA AIMP1 NDUFA2 TUBB2B POMC ALG6 ALDH3A2 PIGS DHDDS TMEM67 CLCN4 DDX3X TRPM6 AHDC1 CPOX EDC3 GMPPA NIPA1 GBA NGLY1 GNAQ SEC24C NEUROD2 NSUN2 MAGEL2 MECP2 ATP6 FGFR2 FTO HCN1 SLC2A1 SYT2 NDUFA9 SPRY4 HADHB SLC25A12 MAP2K1 PRMT7 SLC25A4 SYNGAP1 PGAP2 ADGRG1 ACADM LRAT SMARCC2 PAX2 SHANK3 TRMT1 CTSD VAMP1 TMEM237 SMARCC2 FGFR1 PEX19 SLC25A13 CTNNA2 CPS1 SHROOM4 ZBTB20 TGFBR3 POLR3A ASPA RORB UPF3B PARS2 NIN SMG9 TRNQ HERC1 SURF1 DPAGT1 LHX1 ARV1 SETBP1 ATP6V1A CLCF1 CDON EFHC1 PLEKHG2 NIPBL INPP5K NF2 GTF2H5 GMPPB RRM2B KIFBP HADH PEX26 COQ2 GNS PHGDH CACNA1H KCNC1 NPHP1 PEX5 ACVRL1 TUBG1 SMARCA2 BSCL2 INTS1 ACTL6B SLC6A1 PLCB1 IL17RD SCN2A ADNP LONP1 SAMHD1 PEX26 NOS1AP NPAP1 CALM1 GRIN1 SNX14 TRIP13 CRBN CNOT1 HTT TP53RK CDK5 P4HTM VARS2 EIF2S3 FAM149B1 SMC3 B9D2 GTF2E2 CLN8 ACOX1 ALDH18A1 GCSH CASK LINGO1 IDH2 XPNPEP3 MDH2 NECAP1 AIMP2 CSTB AP4S1 FARSB NPC2 FRA16E RERE NRXN1 GPAA1 TMEM67 CLN8 TAF1 TRNV CHD8 ATP6 KIF5C CYP27A1 PCLO FARS2 CYB5A NEK9 MECP2 PEX13 POMGNT1 UGDH UBAC2 PAK1 DCX POLG AKAP9 TSEN54 SARS1 PRMT7 UBE2A SSR4 GLUD1 FKRP RPS6KA3 CHN1 EXOSC3 CC2D1A PDGFB KMT2C ATP6AP1 CEP120 UBE3A TLR3 PEX26 SMARCA4 NDP SLC45A1 KCNJ6 ST3GAL3 EIF2B2 MOCS1 GOSR2 NDUFB11 TRNK PEX2 HLA-DPA1 AP3B2 TLR4 TCF4 EZR PSAT1 TRAPPC9 SHROOM4 RMND1 KATNB1 STXBP1 NUS1 GPAA1 MAF ADNP MKRN3-AS1 AASS TANGO2 SPATA7 TRNL1 TBC1D24 GRIN2A PEX3 DNM1 ATP6V1A TUBB2B GRIN2D PEX14 FAM149B1 GDF6 CLCN4 SC5D ACADS COX2 PANK2 SDHA GRIK2 MVK FLI1 LAS1L GDF2 GNAS IMPDH1 DEGS1 FLNA PTEN NUP214 GM2A STXBP1 ALDH5A1 DNASE1L3 THOC2 UNC80 FKRP FGFR3 IL10 FLNA RORA ISG15 PEX6 SPR SHH COG5 COL4A1 PTCH1 D2HGDH SH2B1 BRAF CYP26C1 CDC42 BCL10 NHLRC1 SOX10 CLN8 TSEN54 VPS13A ARV1 STT3A ASAH1 ATAD3A COX15 AGTR2 CEP290 PHACTR1 VPS13B VLDLR LAMC3 HERC2 GLI2 CACNA1D PTPN22 TWNK TRDN TRNW MKRN3 ARCN1 ARX GLRX5 GABRB3 SCYL2 CLTCL1 SYN1 PROK2 NEXMIF SLC12A3 PHF21A CYP27A1 TUBGCP6 ARNT2 ABCA2 HNRNPU DLG3 NDUFS4 GFM1 GABRB2 HNMT GUCY1A1 DNAJC19 PAK3 SIK1 DAG1 WASHC4 NAXE OTX2 SIK3 MSX2 SDHB AHSG TMEM216 CACNA1B PEX14 MPDU1 YEATS2 RBM8A PEX3 SCN4B FA2H DEAF1 ND2 ARHGDIA GABRB3 TRNS1 GATA3 AIP SEMA3A GP9 LYST IQSEC2 DYNC1H1 CHMP2B CDH23 WWOX SUFU LHX4 TECR HYMAI SMAD4 MAN1B1 PHOX2B MAPK10 ECM1 KDM6A PLA2G6 PGAP3 SPATA5 MKS1 ACTB POLA1 ALG13 AP1S2 CD96 CIT

Protein Mutations 1

A147T

SNP 5

rs1024611 rs1360780 rs222797 rs2297201 rs2298771