- Analytes
- CXCR4
CXCR4
Name: |
C-X-C motif chemokine receptor 4
|
Symbol: |
CXCR4
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
CD184
D2S201E
HM89
HSY3RR
LESTR
NPY3R
NPYR
NPYY3R
fusin
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
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Congenital malformation (1721 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 0.00 0 , AARS1 0.00 0 , AASS 0.00 0 , ABAT 0.00 0 , ABCA12 0.00 0 , ABCC6 0.00 0 , ABCC9 0.00 0 , ABCD1 0.00 0 , ABCD3 0.00 0 , ABCD4 0.00 0 , ABHD5 0.00 0 , ABL1 0.00 0 , ACAD9 0.00 0 , ACADVL 0.00 0 , ACAN 0.00 0 , ACE 0.00 0 , ACO2 0.00 0 , ACOX1 0.00 0 , ACP5 0.00 0 , ACSL4 0.00 0 , ACTA1 0.00 0 , ACTA2 0.00 0 , ACTB 0.00 0 , ACTC1 0.00 0 , ACTG1 0.00 0 , ACTG2 0.00 0 , ACVR1 0.00 0 , ACVR2B 0.00 0 , ACY1 0.00 0 , ADAMTS10 0.00 0 , ADAMTS17 0.00 0 , ADAMTS3 0.00 0 , ADAMTSL2 0.00 0 , ADAR 0.00 0 , ADGRG1 0.00 0 , ADGRG6 0.00 0 , ADNP 0.00 0 , ADSL 0.00 0 , AFF3 0.00 0 , AFF4 0.00 0 , AGK 0.00 0 , AGL 0.00 0 , AGPS 0.00 0 , AHCY 0.00 0 , AHDC1 0.00 0 , AHI1 0.00 0 , AIFM1 0.00 0 , AIMP1 0.00 0 , AIPL1 0.00 0 , AIRE 0.00 0 , AKR1C2 0.00 0 , AKT1 0.00 0 , AKT2 0.00 0 , AKT3 0.00 0 , ALDH18A1 0.00 0 , ALDH1A3 0.00 0 , ALDH3A2 0.00 0 , ALDH7A1 0.00 0 , ALDOA 0.00 0 , ALG1 0.00 0 , ALG11 0.00 0 , ALG12 0.00 0 , ALG13 0.00 0 , ALG2 0.00 0 , ALG3 0.00 0 , ALG6 0.00 0 , ALG8 0.00 0 , ALG9 0.00 0 , ALMS1 0.00 0 , ALOX12B 0.00 0 , ALOXE3 0.00 0 , ALPL 0.00 0 , ALX1 0.00 0 , ALX3 0.00 0 , ALX4 0.00 0 , AMACR 0.00 0 , AMBRA1 0.00 0 , AMER1 0.00 0 , AMMECR1 0.00 0 , AMPD2 0.00 0 , AMT 0.00 0 , ANAPC1 0.00 0 , ANKH 0.00 0 , ANKRD11 0.00 0 , ANKRD26 0.00 0 , ANKS6 0.00 0 , ANOS1 0.00 0 , ANTXR1 0.00 0 , ANTXR2 0.00 0 , AP1S2 0.00 0 , AP3B2 0.00 0 , AP4B1 0.00 0 , AP4E1 0.00 0 , AP4M1 0.00 0 , AP4S1 0.00 0 , AR 0.00 0 , ARCN1 0.00 0 , ARFGEF2 0.00 0 , ARHGAP29 0.00 0 , ARHGAP31 0.00 0 , ARID1A 0.00 0 , ARID1B 0.00 0 , ARID2 0.00 0 , ARL13B 0.00 0 , ARL3 0.00 0 , ARL6 0.00 0 , ODAD2 0.00 0 , ARMC9 0.00 0 , ARSA 0.00 0 , SLURP1 0.00 0 , ARSL 0.00 0 , ARVCF 0.00 0 , ARX 0.00 0 , ASAH1 0.00 0 , ASCC1 0.00 0 , ASNS 0.00 0 , ASPA 0.00 0 , ASPH 0.00 0 , ASPM 0.00 0 , ASS1 0.00 0 , ASXL1 0.00 0 , ASXL2 0.00 0 , ASXL3 0.00 0 , ATAD3A 0.00 0 , ATIC 0.00 0 , ATL1 0.00 0 , ATM 0.00 0 , ATP1A2 0.00 0 , ATP6V0A2 0.00 0 , ATP6V1B2 0.00 0 , ATP7A 0.00 0 , ATP8A2 0.00 0 , ATRX 0.00 0 , ATXN10 0.00 0 , AVIL 0.00 0 , B3GALNT2 0.00 0 , B3GALT6 0.00 0 , B3GAT3 0.00 0 , B3GLCT 0.00 0 , B4GALT1 0.00 0 , B4GALT7 0.00 0 , B4GAT1 0.00 0 , B9D1 0.00 0 , B9D2 0.00 0 , BANF1 0.00 0 , BBIP1 0.00 0 , BBS1 0.00 0 , BBS10 0.00 0 , BBS12 0.00 0 , BBS2 0.00 0 , BBS4 0.00 0 , BBS5 0.00 0 , BBS7 0.00 0 , BBS9 0.00 0 , BCAP31 0.00 0 , BCL11A 0.00 0 , BCL9L 0.00 0 , BCOR 0.00 0 , BCS1L 0.00 0 , BDNF 0.00 0 , BFSP2 0.00 0 , BGN 0.00 0 , BHLHA9 0.00 0 , BICC1 0.00 0 , BICD2 0.00 0 , BIN1 0.00 0 , BLM 0.00 0 , BLOC1S6 0.00 0 , BMP1 0.00 0 , BMP2 0.00 0 , BMP4 0.00 0 , BMPER 0.00 0 , BMPR1B 0.00 0 , BNC2 0.00 0 , BOLA3 0.00 0 , BPTF 0.00 0 , BRAF 0.00 0 , BRAT1 0.00 0 , BRCA2 0.00 0 , BRIP1 0.00 0 , BRPF1 0.00 0 , BSND 0.00 0 , BTD 0.00 0 , BUB1 0.00 0 , BUB1B 0.00 0 , BUB3 0.00 0 , C12ORF57 0.00 0 , MTRFR 0.00 0 , C1QBP 0.00 0 , MFRP 0.00 0 , C2CD3 0.00 0 , C4BPA 0.00 0 , C4BPB 0.00 0 , CFAP418 0.00 0 , CA2 0.00 0 , CA5A 0.00 0 , CA8 0.00 0 , CACNA1A 0.00 0 , CACNA1C 0.00 0 , CACNA1D 0.00 0 , CACNA1E 0.00 0 , CACNA1G 0.00 0 , CAMK2A 0.00 0 , CAMK2B 0.00 0 , CAMTA1 0.00 0 , CANT1 0.00 0 , CARS2 0.00 0 , CASK 0.00 0 , CASR 0.00 0 , CBL 0.00 0 , CC2D2A 0.00 0 , CCBE1 0.00 0 , CCDC103 0.00 0 , ODAD1 0.00 0 , ODAD3 0.00 0 , CCDC22 0.00 0 , CCDC28B 0.00 0 , CCDC39 0.00 0 , CCDC40 0.00 0 , CCDC78 0.00 0 , CCDC8 0.00 0 , CCDC88C 0.00 0 , CCM2 0.00 0 , CCND2 0.00 0 , CCNQ 0.00 0 , CD151 0.00 0 , CD55 0.00 0 , CD96 0.00 0 , CDAN1 0.00 0 , CDC45 0.00 0 , CDC6 0.00 0 , CDC73 0.00 0 , CDH1 0.00 0 , CDH11 0.00 0 , CDH3 0.00 0 , CDK13 0.00 0 , CDK5RAP2 0.00 0 , CDK8 0.00 0 , CDKL5 0.00 0 , CDKN1C 0.00 0 , CDON 0.00 0 , CDT1 0.00 0 , CELSR1 0.00 0 , CENPF 0.00 0 , CENPJ 0.00 0 , CEP104 0.00 0 , CEP120 0.00 0 , CEP135 0.00 0 , CEP152 0.00 0 , CEP164 0.00 0 , CEP290 0.00 0 , CEP41 0.00 0 , CEP55 0.00 0 , CEP57 0.00 0 , CEP63 0.00 0 , CEP83 0.00 0 , CERS3 0.00 0 , CERT1 0.00 0 , CFAP298 0.00 0 , CFAP300 0.00 0 , CFAP410 0.00 0 , CFAP53 0.00 0 , CFC1 0.00 0 , CFHR2 0.00 0 , CFL2 0.00 0 , CFTR 0.00 0 , CHAMP1 0.00 0 , CHAT 0.00 0 , CHD3 0.00 0 , CHD4 0.00 0 , CHD7 0.00 0 , CHD8 0.00 0 , CHKB 0.00 0 , CHMP1A 0.00 0 , CHN1 0.00 0 , CHRNA1 0.00 0 , CHRNA3 0.00 0 , CHRNB1 0.00 0 , CHRNB2 0.00 0 , CHRND 0.00 0 , CHRNE 0.00 0 , CHRNG 0.00 0 , CHST11 0.00 0 , CHST14 0.00 0 , CHST3 0.00 0 , CHSY1 0.00 0 , CHUK 0.00 0 , CILK1 0.00 0 , CIT 0.00 0 , CKAP2L 0.00 0 , CLCN7 0.00 0 , CLCNKB 0.00 0 , CLDN10 0.00 0 , CLMP 0.00 0 , CLP1 0.00 0 , CLPB 0.00 0 , CLPP 0.00 0 , CLTC 0.00 0 , CNKSR2 0.00 0 , CNOT1 0.00 0 , CNOT3 0.00 0 , CNTN1 0.00 0 , CNTNAP1 0.00 0 , CNTNAP2 0.00 0 , COASY 0.00 0 , COG1 0.00 0 , COG4 0.00 0 , COG5 0.00 0 , COG6 0.00 0 , COG7 0.00 0 , COG8 0.00 0 , COL10A1 0.00 0 , COL11A1 0.00 0 , COL11A2 0.00 0 , COL12A1 0.00 0 , COL13A1 0.00 0 , COL18A1 0.00 0 , COL1A1 0.00 0 , COL1A2 0.00 0 , COL25A1 0.00 0 , COL2A1 0.00 0 , COL3A1 0.00 0 , COL4A1 0.00 0 , COL4A2 0.00 0 , COL5A1 0.00 0 , COL5A2 0.00 0 , COL6A1 0.00 0 , COL6A2 0.00 0 , COL6A3 0.00 0 , COL7A1 0.00 0 , COL9A1 0.00 0 , COL9A2 0.00 0 , COLEC10 0.00 0 , COLEC11 0.00 0 , COLQ 0.00 0 , COMT 0.00 0 , COQ4 0.00 0 , COQ7 0.00 0 , COQ9 0.00 0 , COX7B 0.00 0 , CPAMD8 0.00 0 , CPLANE1 0.00 0 , CPT2 0.00 0 , CRADD 0.00 0 , CRB1 0.00 0 , CRB2 0.00 0 , CREB3L1 0.00 0 , CREBBP 0.00 0 , CRELD1 0.00 0 , CRH 0.00 0 , CRIPT 0.00 0 , CRLF1 0.00 0 , CRPPA 0.00 0 , CRTAP 0.00 0 , CRX 0.00 0 , CRYAA 0.00 0 , CRYBA1 0.00 0 , CRYBA4 0.00 0 , CRYBB1 0.00 0 , CRYBB2 0.00 0 , CRYBB3 0.00 0 , CRYGC 0.00 0 , CRYGD 0.00 0 , CSF1R 0.00 0 , CSNK2A1 0.00 0 , CSPP1 0.00 0 , CSTA 0.00 0 , CTC1 0.00 0 , CTCF 0.00 0 , CTDP1 0.00 0 , CTNNB1 0.00 0 , CTNND1 0.00 0 , CTNS 0.00 0 , CTSA 0.00 0 , CTSD 0.00 0 , CTSK 0.00 0 , CTU2 0.00 0 , CUL4B 0.00 0 , CUL7 0.00 0 , CUX2 0.00 0 , CWC27 0.00 0 , CXCR4 0.00 0 , CYB5R3 0.00 0 , CYP11A1 0.00 0 , CYP11B1 0.00 0 , CYP17A1 0.00 0 , CYP19A1 0.00 0 , CYP1B1 0.00 0 , CYP21A2 0.00 0 , CYP26B1 0.00 0 , CYP2U1 0.00 0 , CYP4F22 0.00 0 , DACH1 0.00 0 , DAG1 0.00 0 , DARS1 0.00 0 , DCC 0.00 0 , DCDC2 0.00 0 , DCHS1 0.00 0 , DCX 0.00 0 , DDHD2 0.00 0 , DDR2 0.00 0 , DDX11 0.00 0 , DDX3X 0.00 0 , DDX59 0.00 0 , DDX6 0.00 0 , DENND5A 0.00 0 , DHCR24 0.00 0 , DHCR7 0.00 0 , DHDDS 0.00 0 , DHFR 0.00 0 , DHH 0.00 0 , DHODH 0.00 0 , DHTKD1 0.00 0 , DHX30 0.00 0 , DIAPH1 0.00 0 , DIS3L2 0.00 0 , DISP1 0.00 0 , DKC1 0.00 0 , DLG4 0.00 0 , DLL3 0.00 0 , DLL4 0.00 0 , DLX5 0.00 0 , DMD 0.00 0 , DMPK 0.00 0 , DNAAF1 0.00 0 , DNAAF2 0.00 0 , DNAAF3 0.00 0 , DNAAF4 0.00 0 , DNAAF5 0.00 0 , DNAH11 0.00 0 , DNAH5 0.00 0 , DNAH9 0.00 0 , DNAI1 0.00 0 , DNAI2 0.00 0 , DNAJB11 0.00 0 , DNAJC12 0.00 0 , DNAJC19 0.00 0 , DNM1 0.00 0 , DNM1L 0.00 0 , DNM2 0.00 0 , DNMT3A 0.00 0 , DNMT3B 0.00 0 , DOCK6 0.00 0 , DOCK7 0.00 0 , DOK7 0.00 0 , DOLK 0.00 0 , DONSON 0.00 0 , DPAGT1 0.00 0 , DPF2 0.00 0 , DPH1 0.00 0 , DPM1 0.00 0 , DPM2 0.00 0 , DPM3 0.00 0 , DPYD 0.00 0 , DRC1 0.00 0 , DSG1 0.00 0 , DSP 0.00 0 , DSTYK 0.00 0 , DUSP6 0.00 0 , DVL1 0.00 0 , DVL3 0.00 0 , DYM 0.00 0 , DYNC1H1 0.00 0 , DYNC2H1 0.00 0 , DYNC2LI1 0.00 0 , DYRK1A 0.00 0 , DZIP1L 0.00 0 , EARS2 0.00 0 , EBF3 0.00 0 , GLB1 0.00 0 , ECEL1 0.00 0 , EDA 0.00 0 , EDN1 0.00 0 , EDNRA 0.00 0 , EDNRB 0.00 0 , EED 0.00 0 , EEF1A2 0.00 0 , EFL1 0.00 0 , EFNB1 0.00 0 , EFTUD2 0.00 0 , EGR2 0.00 0 , EHBP1L1 0.00 0 , EHHADH 0.00 0 , EHMT1 0.00 0 , EIF2AK3 0.00 0 , EIF2B2 0.00 0 , EIF2B3 0.00 0 , EIF2S3 0.00 0 , EIF4A3 0.00 0 , EIF5A 0.00 0 , ELAC2 0.00 0 , ELMO2 0.00 0 , ELN 0.00 0 , ELOVL4 0.00 0 , EMC1 0.00 0 , EMD 0.00 0 , EMG1 0.00 0 , EML1 0.00 0 , EMX2 0.00 0 , ENPP1 0.00 0 , EOGT 0.00 0 , EP300 0.00 0 , EPG5 0.00 0 , EPHB4 0.00 0 , EPHX1 0.00 0 , ERBB3 0.00 0 , ERCC1 0.00 0 , ERCC2 0.00 0 , ERCC3 0.00 0 , ERCC4 0.00 0 , ERCC5 0.00 0 , ERCC6 0.00 0 , ERCC8 0.00 0 , ERF 0.00 0 , ERGIC1 0.00 0 , ERLIN2 0.00 0 , ESCO2 0.00 0 , ESRRG 0.00 0 , ETFA 0.00 0 , ETFB 0.00 0 , ETFDH 0.00 0 , EVC 0.00 0 , EVC2 0.00 0 , EXOC3L2 0.00 0 , EXOSC3 0.00 0 , EXPH5 0.00 0 , EXT1 0.00 0 , EXT2 0.00 0 , EXTL3 0.00 0 , EYA1 0.00 0 , EZH2 0.00 0 , FA2H 0.00 0 , FANCA 0.00 0 , FAM111A 0.00 0 , HYCC1 0.00 0 , FAM20A 0.00 0 , FAM20C 0.00 0 , FANCB 0.00 0 , FANCC 0.00 0 , FANCD2 0.00 0 , FANCE 0.00 0 , FANCF 0.00 0 , FANCG 0.00 0 , FANCI 0.00 0 , FANCL 0.00 0 , FANCM 0.00 0 , FAR1 0.00 0 , FAT4 0.00 0 , FBLN5 0.00 0 , FBN1 0.00 0 , FBN2 0.00 0 , FBXL4 0.00 0 , FEZF1 0.00 0 , FGD1 0.00 0 , FGF10 0.00 0 , FGF17 0.00 0 , FGF3 0.00 0 , FGF8 0.00 0 , FGF9 0.00 0 , FGFR1 0.00 0 , FGFR2 0.00 0 , FGFR3 0.00 0 , FGG 0.00 0 , FH 0.00 0 , FIG4 0.00 0 , FKBP10 0.00 0 , FKBP14 0.00 0 , FKBP8 0.00 0 , FKRP 0.00 0 , FKTN 0.00 0 , FLNA 0.00 0 , FLNB 0.00 0 , FLNC 0.00 0 , FLRT3 0.00 0 , FLT4 0.00 0 , FLVCR2 0.00 0 , FMN2 0.00 0 , FN1 0.00 0 , FOLR1 0.00 0 , FOXC1 0.00 0 , FOXC2 0.00 0 , FOXE1 0.00 0 , FOXE3 0.00 0 , FOXF1 0.00 0 , FOXG1 0.00 0 , FOXL2 0.00 0 , FOXP2 0.00 0 , FOXP3 0.00 0 , FOXP4 0.00 0 , FOXRED1 0.00 0 , FRAS1 0.00 0 , FREM1 0.00 0 , FREM2 0.00 0 , FRMD4A 0.00 0 , FRMPD4 0.00 0 , FRRS1L 0.00 0 , FTL 0.00 0 , FTO 0.00 0 , FUCA1 0.00 0 , FUT8 0.00 0 , FUZ 0.00 0 , FYCO1 0.00 0 , FZD2 0.00 0 , FZD5 0.00 0 , G6PC3 0.00 0 , GAA 0.00 0 , GABRA1 0.00 0 , GABRB2 0.00 0 , GABRG2 0.00 0 , GALC 0.00 0 , GALE 0.00 0 , GALK1 0.00 0 , GALNS 0.00 0 , GALNT2 0.00 0 , GANAB 0.00 0 , GATA1 0.00 0 , GATA2 0.00 0 , GATA3 0.00 0 , GATA4 0.00 0 , GATA6 0.00 0 , GBA1 0.00 0 , GBA2 0.00 0 , GBE1 0.00 0 , GCDH 0.00 0 , GCSH 0.00 0 , GDF1 0.00 0 , GDF3 0.00 0 , GDF5 0.00 0 , GDF6 0.00 0 , GFAP 0.00 0 , GFM1 0.00 0 , GFPT1 0.00 0 , GFRA1 0.00 0 , GJA1 0.00 0 , GJA3 0.00 0 , GJA8 0.00 0 , GJB2 0.00 0 , GJC2 0.00 0 , GLA 0.00 0 , GLDC 0.00 0 , GLDN 0.00 0 , GLE1 0.00 0 , GLI1 0.00 0 , GLI2 0.00 0 , GLI3 0.00 0 , GLIS2 0.00 0 , GLIS3 0.00 0 , GLUL 0.00 0 , GM2A 0.00 0 , GMNN 0.00 0 , GMPPB 0.00 0 , GNA11 0.00 0 , GNA14 0.00 0 , GNAI1 0.00 0 , GNAI3 0.00 0 , GNAO1 0.00 0 , GNAQ 0.00 0 , GNAS 0.00 0 , GNB1 0.00 0 , GNB5 0.00 0 , GNPAT 0.00 0 , GNPTAB 0.00 0 , GNPTG 0.00 0 , GNS 0.00 0 , GORAB 0.00 0 , GP1BB 0.00 0 , GPAA1 0.00 0 , GPC3 0.00 0 , GPC6 0.00 0 , GPI 0.00 0 , GPKOW 0.00 0 , GPSM2 0.00 0 , GPX4 0.00 0 , GREB1L 0.00 0 , GRHL2 0.00 0 , GRHL3 0.00 0 , GRIN1 0.00 0 , GRIN2B 0.00 0 , GRIN2D 0.00 0 , GRIP1 0.00 0 , GRM1 0.00 0 , GSC 0.00 0 , GSPT2 0.00 0 , GTF2E2 0.00 0 , GTF2H5 0.00 0 , GTPBP3 0.00 0 , GUCY2C 0.00 0 , GUCY2D 0.00 0 , GUSB 0.00 0 , GZF1 0.00 0 , H1-4 0.00 0 , H4C3 0.00 0 , HAAO 0.00 0 , HADHA 0.00 0 , HADHB 0.00 0 , HBA1 0.00 0 , HBA2 0.00 0 , HCCS 0.00 0 , HCFC1 0.00 0 , HDAC8 0.00 0 , HES7 0.00 0 , HESX1 0.00 0 , HGSNAT 0.00 0 , HIBCH 0.00 0 , HIRA 0.00 0 , HIVEP2 0.00 0 , HLX 0.00 0 , HMGA2 0.00 0 , HMX1 0.00 0 , HNF1B 0.00 0 , HNF4A 0.00 0 , HNRNPH2 0.00 0 , HNRNPK 0.00 0 , HOXA1 0.00 0 , HOXA11 0.00 0 , HOXA13 0.00 0 , HOXA2 0.00 0 , HOXB1 0.00 0 , HOXD13 0.00 0 , HPD 0.00 0 , HPGD 0.00 0 , HPSE2 0.00 0 , HR 0.00 0 , HRAS 0.00 0 , HS6ST1 0.00 0 , HSD17B3 0.00 0 , HSD17B4 0.00 0 , HSF4 0.00 0 , HSPD1 0.00 0 , HSPG2 0.00 0 , HUWE1 0.00 0 , HYAL1 0.00 0 , HYLS1 0.00 0 , IARS1 0.00 0 , IBA57 0.00 0 , IDH1 0.00 0 , IDS 0.00 0 , IDUA 0.00 0 , IER3IP1 0.00 0 , IFIH1 0.00 0 , IFITM5 0.00 0 , IFT122 0.00 0 , IFT140 0.00 0 , IFT172 0.00 0 , IFT27 0.00 0 , IFT43 0.00 0 , IFT52 0.00 0 , IFT80 0.00 0 , IFT81 0.00 0 , IFT88 0.00 0 , IGBP1 0.00 0 , IGF1 0.00 0 , IGF1R 0.00 0 , IGF2 0.00 0 , IGFBP7 0.00 0 , IGHMBP2 0.00 0 , IHH 0.00 0 , IKBKG 0.00 0 , IL11RA 0.00 0 , IL17RD 0.00 0 , IL1RAPL1 0.00 0 , BPNT2 0.00 0 , IMPDH1 0.00 0 , INCENP 0.00 0 , INPP5B 0.00 0 , INPP5E 0.00 0 , INPP5K 0.00 0 , INPPL1 0.00 0 , INSR 0.00 0 , INTU 0.00 0 , INVS 0.00 0 , IQCB1 0.00 0 , IRF6 0.00 0 , IRX1 0.00 0 , IRX5 0.00 0 , ITCH 0.00 0 , ITGA3 0.00 0 , ITGA6 0.00 0 , ITGA8 0.00 0 , ITGB4 0.00 0 , ITPR1 0.00 0 , JAG1 0.00 0 , JAM3 0.00 0 , JUP 0.00 0 , KANSL1 0.00 0 , KAT6A 0.00 0 , KAT6B 0.00 0 , KATNB1 0.00 0 , KCNA1 0.00 0 , KCNC3 0.00 0 , KCNH1 0.00 0 , KCNJ1 0.00 0 , KCNJ13 0.00 0 , KCNJ2 0.00 0 , KCNJ6 0.00 0 , KCNJ8 0.00 0 , KCNK9 0.00 0 , KCNQ2 0.00 0 , KCNQ5 0.00 0 , KCNT1 0.00 0 , KCTD1 0.00 0 , KCTD7 0.00 0 , KDM1A 0.00 0 , KDM5C 0.00 0 , KDM6A 0.00 0 , KATNIP 0.00 0 , KIAA0586 0.00 0 , KIAA0753 0.00 0 , BLTP1 0.00 0 , KIDINS220 0.00 0 , KIF11 0.00 0 , KIF14 0.00 0 , KIF1A 0.00 0 , KIF22 0.00 0 , KIF26B 0.00 0 , KIF2A 0.00 0 , KIF5C 0.00 0 , KIF7 0.00 0 , KIFBP 0.00 0 , KISS1R 0.00 0 , KLF1 0.00 0 , KLHL40 0.00 0 , KLHL41 0.00 0 , KLHL7 0.00 0 , KMT2A 0.00 0 , KMT2B 0.00 0 , KMT2C 0.00 0 , KMT2D 0.00 0 , KNL1 0.00 0 , KPTN 0.00 0 , KRAS 0.00 0 , KRIT1 0.00 0 , KRT74 0.00 0 , KYNU 0.00 0 , L1CAM 0.00 0 , L2HGDH 0.00 0 , LAGE3 0.00 0 , LAMA1 0.00 0 , LAMA2 0.00 0 , LAMA5 0.00 0 , LAMB1 0.00 0 , LAMC3 0.00 0 , LARGE1 0.00 0 , LARP7 0.00 0 , LARS2 0.00 0 , LBR 0.00 0 , LCA5 0.00 0 , LEMD3 0.00 0 , LFNG 0.00 0 , LGI4 0.00 0 , LHB 0.00 0 , LHX3 0.00 0 , LHX4 0.00 0 , LIAS 0.00 0 , LIFR 0.00 0 , LIG4 0.00 0 , LINS1 0.00 0 , LIPA 0.00 0 , LIPN 0.00 0 , LIPT1 0.00 0 , LIPT2 0.00 0 , LMBR1 0.00 0 , LMBRD1 0.00 0 , LMNA 0.00 0 , LMNB1 0.00 0 , LMNB2 0.00 0 , LMOD3 0.00 0 , LMX1B 0.00 0 , LONP1 0.00 0 , LRAT 0.00 0 , LRBA 0.00 0 , LRIG2 0.00 0 , LRIT3 0.00 0 , LRP2 0.00 0 , CORIN 0.00 0 , LRP5 0.00 0 , LRRC56 0.00 0 , DNAAF11 0.00 0 , LTBP3 0.00 0 , LTBP4 0.00 0 , LYST 0.00 0 , LZTFL1 0.00 0 , LZTR1 0.00 0 , MAB21L2 0.00 0 , MACF1 0.00 0 , MAF 0.00 0 , MAFB 0.00 0 , MAGEL2 0.00 0 , MAMLD1 0.00 0 , MAN1B1 0.00 0 , MANBA 0.00 0 , MAP2K1 0.00 0 , MAP2K2 0.00 0 , MAP3K1 0.00 0 , MAP3K20 0.00 0 , MAP3K7 0.00 0 , MAPKBP1 0.00 0 , MAPRE2 0.00 0 , MASP1 0.00 0 , MAT1A 0.00 0 , MATN3 0.00 0 , MBOAT7 0.00 0 , MBTPS2 0.00 0 , MCOLN1 0.00 0 , MCPH1 0.00 0 , MDH2 0.00 0 , MECOM 0.00 0 , MECP2 0.00 0 , MECR 0.00 0 , MED12 0.00 0 , MED13L 0.00 0 , MED17 0.00 0 , MED28 0.00 0 , MEF2C 0.00 0 , MEGF10 0.00 0 , MEGF8 0.00 0 , MEIS2 0.00 0 , MEOX1 0.00 0 , MESD 0.00 0 , MESP2 0.00 0 , MFSD2A 0.00 0 , MGP 0.00 0 , MID1 0.00 0 , MIPOL1 0.00 0 , MITF 0.00 0 , MKKS 0.00 0 , MKS1 0.00 0 , MLC1 0.00 0 , MLH1 0.00 0 , MLYCD 0.00 0 , MMACHC 0.00 0 , MMADHC 0.00 0 , MMP13 0.00 0 , MMP15 0.00 0 , MMP21 0.00 0 , MN1 0.00 0 , MNX1 0.00 0 , MOCOS 0.00 0 , MOCS1 0.00 0 , MOCS2 0.00 0 , MOGS 0.00 0 , MPDU1 0.00 0 , MPDZ 0.00 0 , MPL 0.00 0 , MPLKIP 0.00 0 , MPZ 0.00 0 , MRAS 0.00 0 , MRPS16 0.00 0 , MRPS22 0.00 0 , MRPS34 0.00 0 , MSH2 0.00 0 , MSH6 0.00 0 , MSL3 0.00 0 , MSMO1 0.00 0 , MSTO1 0.00 0 , MSX1 0.00 0 , MSX2 0.00 0 , MTM1 0.00 0 , MTO1 0.00 0 , MTOR 0.00 0 , MUSK 0.00 0 , MVK 0.00 0 , MYBPC1 0.00 0 , MYCN 0.00 0 , MYH10 0.00 0 , MYH11 0.00 0 , MYH2 0.00 0 , MYH3 0.00 0 , MYH6 0.00 0 , MYH7 0.00 0 , MYH8 0.00 0 , MYH9 0.00 0 , MYL1 0.00 0 , MYL9 0.00 0 , MYLK 0.00 0 , MYMK 0.00 0 , MYO18B 0.00 0 , MYO9A 0.00 0 , MYOCD 0.00 0 , MYOD1 0.00 0 , MYPN 0.00 0 , MYRF 0.00 0 , MYT1 0.00 0 , NAA10 0.00 0 , NAA15 0.00 0 , NACC1 0.00 0 , NADSYN1 0.00 0 , NAGA 0.00 0 , NAGLU 0.00 0 , NALCN 0.00 0 , NANS 0.00 0 , NAXE 0.00 0 , NBAS 0.00 0 , NBN 0.00 0 , NDE1 0.00 0 , NDP 0.00 0 , NDUFA10 0.00 0 , NDUFAF2 0.00 0 , NDUFAF5 0.00 0 , NDUFB11 0.00 0 , NEB 0.00 0 , NECTIN1 0.00 0 , NECTIN4 0.00 0 , NEDD4L 0.00 0 , NEK1 0.00 0 , NEK9 0.00 0 , NEU1 0.00 0 , NEXMIF 0.00 0 , NF1 0.00 0 , NFIX 0.00 0 , NHEJ1 0.00 0 , NHP2 0.00 0 , NHS 0.00 0 , NIN 0.00 0 , NIPAL4 0.00 0 , NIPBL 0.00 0 , NKX2-5 0.00 0 , NKX3-2 0.00 0 , NKX6-2 0.00 0 , NLRC4 0.00 0 , RMRP 0.00 0 , NMNAT1 0.00 0 , NMNAT2 0.00 0 , NODAL 0.00 0 , NOG 0.00 0 , NONO 0.00 0 , NOTCH1 0.00 0 , NOTCH2 0.00 0 , NOVA2 0.00 0 , NPC1 0.00 0 , NPC2 0.00 0 , NPHP1 0.00 0 , NPHP3 0.00 0 , NPHP4 0.00 0 , NPHS1 0.00 0 , NPRL2 0.00 0 , NR0B1 0.00 0 , NR2F2 0.00 0 , NR5A1 0.00 0 , NRAS 0.00 0 , NRXN2 0.00 0 , NSD1 0.00 0 , NSDHL 0.00 0 , NSMF 0.00 0 , NSUN2 0.00 0 , NT5C2 0.00 0 , NTRK2 0.00 0 , NUAK2 0.00 0 , NUBPL 0.00 0 , NUP107 0.00 0 , NUP62 0.00 0 , NUP88 0.00 0 , NUS1 0.00 0 , NXN 0.00 0 , OBSL1 0.00 0 , OCLN 0.00 0 , OCRL 0.00 0 , ODC1 0.00 0 , OFD1 0.00 0 , OPHN1 0.00 0 , SLC25A15 0.00 0 , ORC4 0.00 0 , ORC6 0.00 0 , OSGEP 0.00 0 , OSTM1 0.00 0 , OTUD5 0.00 0 , OTUD6B 0.00 0 , OTX2 0.00 0 , P3H1 0.00 0 , P4HB 0.00 0 , PACS1 0.00 0 , PAFAH1B1 0.00 0 , PAICS 0.00 0 , PAK3 0.00 0 , PALB2 0.00 0 , PAPSS2 0.00 0 , PARN 0.00 0 , PAX2 0.00 0 , PAX3 0.00 0 , PAX6 0.00 0 , PAX7 0.00 0 , PAX8 0.00 0 , PBX1 0.00 0 , PCGF2 0.00 0 , PCNT 0.00 0 , PCYT1A 0.00 0 , PDCD10 0.00 0 , PDE10A 0.00 0 , PDE4D 0.00 0 , PDE6D 0.00 0 , PDE6H 0.00 0 , PDGFB 0.00 0 , PDGFRB 0.00 0 , PDHA1 0.00 0 , PDHB 0.00 0 , PDHX 0.00 0 , PDSS1 0.00 0 , PDYN 0.00 0 , PEPD 0.00 0 , PET100 0.00 0 , PEX1 0.00 0 , PEX10 0.00 0 , PEX11B 0.00 0 , PEX12 0.00 0 , PEX13 0.00 0 , PEX14 0.00 0 , PEX16 0.00 0 , PEX19 0.00 0 , PEX2 0.00 0 , PEX26 0.00 0 , PEX3 0.00 0 , PEX5 0.00 0 , PEX6 0.00 0 , PEX7 0.00 0 , PFKM 0.00 0 , PGAP1 0.00 0 , PGAP2 0.00 0 , PGAP3 0.00 0 , PGM1 0.00 0 , PGM3 0.00 0 , PHF21A 0.00 0 , PHF6 0.00 0 , PHF8 0.00 0 , PHGDH 0.00 0 , PHIP 0.00 0 , PHOX2B 0.00 0 , PIBF1 0.00 0 , PIEZO1 0.00 0 , PIEZO2 0.00 0 , PIGA 0.00 0 , PIGG 0.00 0 , PIGL 0.00 0 , PIGN 0.00 0 , PIGO 0.00 0 , PIGS 0.00 0 , PIGT 0.00 0 , PIGV 0.00 0 , PIGY 0.00 0 , DNAAF6 0.00 0 , PIK3C2A 0.00 0 , PIK3CA 0.00 0 , PIK3R1 0.00 0 , PIK3R2 0.00 0 , PIP5K1C 0.00 0 , PITX1 0.00 0 , PITX2 0.00 0 , PITX3 0.00 0 , PKD1 0.00 0 , PKD1L1 0.00 0 , PKD2 0.00 0 , PKHD1 0.00 0 , PKLR 0.00 0 , PLAA 0.00 0 , PLAG1 0.00 0 , PLCB1 0.00 0 , PLCB4 0.00 0 , PRKCSH 0.00 0 , PLEC 0.00 0 , PLG 0.00 0 , PLK4 0.00 0 , PLOD1 0.00 0 , PLOD2 0.00 0 , PLOD3 0.00 0 , PLP1 0.00 0 , PLPBP 0.00 0 , PMM2 0.00 0 , PMP22 0.00 0 , PMS2 0.00 0 , PNKP 0.00 0 , PNPLA1 0.00 0 , POC1A 0.00 0 , POGZ 0.00 0 , POLE 0.00 0 , POLG2 0.00 0 , POLR1A 0.00 0 , POLR1B 0.00 0 , POLR1C 0.00 0 , POLR1D 0.00 0 , POLR3A 0.00 0 , POLR3B 0.00 0 , POMGNT1 0.00 0 , POMGNT2 0.00 0 , POMK 0.00 0 , POMT1 0.00 0 , POMT2 0.00 0 , BVES 0.00 0 , PORCN 0.00 0 , POU1F1 0.00 0 , PPIB 0.00 0 , PPP1CB 0.00 0 , PPP2R1A 0.00 0 , PPP2R5D 0.00 0 , PPP3CA 0.00 0 , PQBP1 0.00 0 , PRDM5 0.00 0 , PREPL 0.00 0 , PRG4 0.00 0 , PRIM1 0.00 0 , PRKAG2 0.00 0 , PRKAR1A 0.00 0 , PRKD1 0.00 0 , PRMT7 0.00 0 , PROK2 0.00 0 , PROKR2 0.00 0 , PROP1 0.00 0 , PRR12 0.00 0 , PRRX1 0.00 0 , PRSS56 0.00 0 , PRUNE1 0.00 0 , PRX 0.00 0 , PSAP 0.00 0 , PSAT1 0.00 0 , PSPH 0.00 0 , PTCH1 0.00 0 , PTCH2 0.00 0 , PTDSS1 0.00 0 , PTEN 0.00 0 , PTF1A 0.00 0 , PTH 0.00 0 , PTH1R 0.00 0 , PTHLH 0.00 0 , PTPN11 0.00 0 , PTPN14 0.00 0 , PTS 0.00 0 , PUF60 0.00 0 , PXDN 0.00 0 , PYCR1 0.00 0 , PYCR2 0.00 0 , PYGM 0.00 0 , PYROXD1 0.00 0 , QARS1 0.00 0 , QRICH1 0.00 0 , RAB11A 0.00 0 , RAB11B 0.00 0 , RAB18 0.00 0 , RAB23 0.00 0 , RAB33B 0.00 0 , RAB3GAP1 0.00 0 , RAB3GAP2 0.00 0 , RAB40AL 0.00 0 , RAC1 0.00 0 , NCOA3 0.00 0 , RAD21 0.00 0 , RAD51 0.00 0 , RAD51C 0.00 0 , RAF1 0.00 0 , RAI1 0.00 0 , RAPSN 0.00 0 , RARB 0.00 0 , RARS2 0.00 0 , RASA1 0.00 0 , PRKRA 0.00 0 , RB1 0.00 0 , RBBP8 0.00 0 , RBM10 0.00 0 , RBM8A 0.00 0 , RBPJ 0.00 0 , RCOR1 0.00 0 , RD3 0.00 0 , RDH12 0.00 0 , RECQL4 0.00 0 , RELN 0.00 0 , REN 0.00 0 , RERE 0.00 0 , RET 0.00 0 , RFT1 0.00 0 , RFX6 0.00 0 , RIN2 0.00 0 , RIPK4 0.00 0 , RIT1 0.00 0 , RLIM 0.00 0 , RMND1 0.00 0 , RNASEH2A 0.00 0 , RNASEH2B 0.00 0 , RNASEH2C 0.00 0 , RNASET2 0.00 0 , ROBO1 0.00 0 , ROBO3 0.00 0 , ROGDI 0.00 0 , ROR2 0.00 0 , RORA 0.00 0 , RPE65 0.00 0 , RPGRIP1 0.00 0 , RPGRIP1L 0.00 0 , RPL15 0.00 0 , RPL11 0.00 0 , RPL26 0.00 0 , RPL35A 0.00 0 , RPL5 0.00 0 , RPS10 0.00 0 , RPS17 0.00 0 , RPS19 0.00 0 , RPS23 0.00 0 , RPS24 0.00 0 , RPS26 0.00 0 , RPS6KA3 0.00 0 , RPS7 0.00 0 , RRAS 0.00 0 , RRAS2 0.00 0 , RRM2B 0.00 0 , RSPH4A 0.00 0 , RSPH9 0.00 0 , RSPRY1 0.00 0 , RTEL1 0.00 0 , RTTN 0.00 0 , RUNX2 0.00 0 , RXYLT1 0.00 0 , RYR1 0.00 0 , SACS 0.00 0 , SALL1 0.00 0 , SALL4 0.00 0 , SAMD9 0.00 0 , SAMHD1 0.00 0 , SASS6 0.00 0 , SATB2 0.00 0 , SBDS 0.00 0 , SC5D 0.00 0 , SCARF2 0.00 0 , SCLT1 0.00 0 , SCN1A 0.00 0 , SCN2A 0.00 0 , SCN3A 0.00 0 , SCN4A 0.00 0 , SCO2 0.00 0 , SCUBE3 0.00 0 , SCYL1 0.00 0 , SDCCAG8 0.00 0 , SDR9C7 0.00 0 , SEC23A 0.00 0 , SEC23B 0.00 0 , SEC24D 0.00 0 , SEC61B 0.00 0 , SECISBP2 0.00 0 , SELENON 0.00 0 , SEMA3A 0.00 0 , SEMA3E 0.00 0 , SEPSECS 0.00 0 , SEPTIN9 0.00 0 , SERPINF1 0.00 0 , SERPINH1 0.00 0 , SET 0.00 0 , SETBP1 0.00 0 , SETD1A 0.00 0 , SETD1B 0.00 0 , SETD2 0.00 0 , SETD5 0.00 0 , SF3B4 0.00 0 , SGCG 0.00 0 , SGPL1 0.00 0 , SGSH 0.00 0 , SH3PXD2B 0.00 0 , SHANK1 0.00 0 , SHANK2 0.00 0 , SHANK3 0.00 0 , SHH 0.00 0 , SHOC2 0.00 0 , SHOX 0.00 0 , SHROOM3 0.00 0 , SIK3 0.00 0 , SIL1 0.00 0 , SIN3A 0.00 0 , SIX1 0.00 0 , SIX3 0.00 0 , SIX5 0.00 0 , SIX6 0.00 0 , HHAT 0.00 0 , SLC10A7 0.00 0 , SLC12A1 0.00 0 , SLC12A6 0.00 0 , SLC13A5 0.00 0 , SLC16A2 0.00 0 , SLC17A5 0.00 0 , SLC18A3 0.00 0 , SLC1A2 0.00 0 , SLC20A1 0.00 0 , SLC20A2 0.00 0 , SLC24A4 0.00 0 , SLC25A19 0.00 0 , SLC25A20 0.00 0 , SLC25A22 0.00 0 , SLC25A24 0.00 0 , SLC25A38 0.00 0 , SLC25A4 0.00 0 , SLC26A2 0.00 0 , SLC26A3 0.00 0 , SLC27A4 0.00 0 , SLC29A3 0.00 0 , SLC2A10 0.00 0 , SLC33A1 0.00 0 , SLC35A1 0.00 0 , SLC35A2 0.00 0 , SLC35A3 0.00 0 , SLC35C1 0.00 0 , SLC35D1 0.00 0 , SLC39A8 0.00 0 , SLC45A1 0.00 0 , SLC5A7 0.00 0 , SLC6A17 0.00 0 , SLC6A8 0.00 0 , SLC6A9 0.00 0 , SLC7A9 0.00 0 , SLC9A6 0.00 0 , SLIT2 0.00 0 , SLX4 0.00 0 , SMAD3 0.00 0 , SMAD4 0.00 0 , SMARCA2 0.00 0 , SMARCA4 0.00 0 , SMARCB1 0.00 0 , SMARCC1 0.00 0 , SMARCE1 0.00 0 , SMC1A 0.00 0 , SMC3 0.00 0 , SMCHD1 0.00 0 , SMG9 0.00 0 , SMN1 0.00 0 , SMO 0.00 0 , SMOC1 0.00 0 , SMOC2 0.00 0 , SMPD1 0.00 0 , SMPD4 0.00 0 , SNAP25 0.00 0 , SNAP29 0.00 0 , SNIP1 0.00 0 , SNRPB 0.00 0 , SNRPE 0.00 0 , SNX10 0.00 0 , SNX14 0.00 0 , SON 0.00 0 , SOS1 0.00 0 , SOS2 0.00 0 , SOST 0.00 0 , SOX10 0.00 0 , SOX11 0.00 0 , SOX17 0.00 0 , SOX18 0.00 0 , SOX2 0.00 0 , SOX3 0.00 0 , SOX5 0.00 0 , SOX6 0.00 0 , SOX9 0.00 0 , SP7 0.00 0 , SPAG1 0.00 0 , SPARC 0.00 0 , AFG2A 0.00 0 , SPATA7 0.00 0 , SPECC1L 0.00 0 , SPEG 0.00 0 , SPG11 0.00 0 , SPRED1 0.00 0 , SPRY4 0.00 0 , SPTAN1 0.00 0 , SRCAP 0.00 0 , SRD5A2 0.00 0 , SRD5A3 0.00 0 , SRGAP1 0.00 0 , SRP54 0.00 0 , SRY 0.00 0 , ST14 0.00 0 , ST3GAL3 0.00 0 , ST3GAL5 0.00 0 , STAC3 0.00 0 , STAG2 0.00 0 , STAMBP 0.00 0 , STAT3 0.00 0 , STAT5B 0.00 0 , STIL 0.00 0 , STRA6 0.00 0 , STRADA 0.00 0 , STS 0.00 0 , STX1B 0.00 0 , STXBP1 0.00 0 , SUCLG1 0.00 0 , SUFU 0.00 0 , SULT2B1 0.00 0 , SUMF1 0.00 0 , SUMO1 0.00 0 , SUZ12 0.00 0 , SYN1 0.00 0 , SYNE1 0.00 0 , SYNM 0.00 0 , SZT2 0.00 0 , TAB2 0.00 0 , TAC3 0.00 0 , TACO1 0.00 0 , TACR3 0.00 0 , TAF1 0.00 0 , TAF13 0.00 0 , TAF2 0.00 0 , TALDO1 0.00 0 , TAPT1 0.00 0 , WWTR1 0.00 0 , TBC1D1 0.00 0 , TBC1D20 0.00 0 , TBC1D23 0.00 0 , TBC1D24 0.00 0 , TBC1D32 0.00 0 , TBCD 0.00 0 , TBCE 0.00 0 , TBCK 0.00 0 , TBL1XR1 0.00 0 , TBR1 0.00 0 , TBX1 0.00 0 , TBX15 0.00 0 , TBX18 0.00 0 , TBX20 0.00 0 , TBX22 0.00 0 , TBX3 0.00 0 , TBX4 0.00 0 , TBX5 0.00 0 , TBX6 0.00 0 , TBXT 0.00 0 , TCF12 0.00 0 , TCF20 0.00 0 , TCF4 0.00 0 , TCIRG1 0.00 0 , TCOF1 0.00 0 , DYNLT2B 0.00 0 , TCTN1 0.00 0 , TCTN2 0.00 0 , TCTN3 0.00 0 , TECPR2 0.00 0 , TELO2 0.00 0 , TENM3 0.00 0 , TENT5A 0.00 0 , TFAP2A 0.00 0 , TFAP2B 0.00 0 , TGDS 0.00 0 , TGFB2 0.00 0 , TGFB3 0.00 0 , TGFBR1 0.00 0 , TGFBR2 0.00 0 , TGIF1 0.00 0 , TGM1 0.00 0 , THOC2 0.00 0 , THOC6 0.00 0 , THRA 0.00 0 , THSD1 0.00 0 , TINF2 0.00 0 , TLL1 0.00 0 , TMCO1 0.00 0 , TMEM107 0.00 0 , TMEM138 0.00 0 , TMEM165 0.00 0 , TMEM216 0.00 0 , TMEM231 0.00 0 , TMEM237 0.00 0 , TMEM260 0.00 0 , TMEM38B 0.00 0 , TMEM67 0.00 0 , TMEM70 0.00 0 , TMEM94 0.00 0 , TMEM98 0.00 0 , TMTC3 0.00 0 , TMX2 0.00 0 , TNC 0.00 0 , TNFRSF13B 0.00 0 , TNNI2 0.00 0 , TNNT1 0.00 0 , TNNT3 0.00 0 , TNXB 0.00 0 , TOE1 0.00 0 , TOP3A 0.00 0 , TOR1A 0.00 0 , TP53RK 0.00 0 , TP63 0.00 0 , TPM2 0.00 0 , TPM3 0.00 0 , TRAF3IP1 0.00 0 , TRAF7 0.00 0 , TRAIP 0.00 0 , TRAP1 0.00 0 , TRAPPC11 0.00 0 , TRAPPC12 0.00 0 , TRAPPC9 0.00 0 , TREM2 0.00 0 , TREX1 0.00 0 , TRIM32 0.00 0 , TRIM37 0.00 0 , TRIO 0.00 0 , TRIP11 0.00 0 , TRIP12 0.00 0 , TRIP13 0.00 0 , TRIP4 0.00 0 , TRMT10A 0.00 0 , TRMT10C 0.00 0 , TRPM7 0.00 0 , TRPS1 0.00 0 , TRPV3 0.00 0 , TRPV4 0.00 0 , TRPV6 0.00 0 , TSC1 0.00 0 , TSC2 0.00 0 , TSEN15 0.00 0 , TSEN2 0.00 0 , TSEN34 0.00 0 , TSEN54 0.00 0 , TSFM 0.00 0 , TSPYL1 0.00 0 , TTC21B 0.00 0 , ODAD4 0.00 0 , SKIC3 0.00 0 , TTC7A 0.00 0 , TTC8 0.00 0 , TTC9 0.00 0 , TTI2 0.00 0 , TTN 0.00 0 , TUBA1A 0.00 0 , TUBA8 0.00 0 , TUBB 0.00 0 , TUBB2A 0.00 0 , TUBB2B 0.00 0 , TUBB3 0.00 0 , TUBB4A 0.00 0 , TUBG1 0.00 0 , TUBGCP4 0.00 0 , TUBGCP6 0.00 0 , TUFM 0.00 0 , TULP1 0.00 0 , TWIST1 0.00 0 , TWIST2 0.00 0 , TXNDC15 0.00 0 , TXNL4A 0.00 0 , TYR 0.00 0 , TYROBP 0.00 0 , UBA1 0.00 0 , UBB 0.00 0 , UBE2T 0.00 0 , UBE3A 0.00 0 , UBE3B 0.00 0 , UBR1 0.00 0 , UBTF 0.00 0 , UFD1 0.00 0 , UMOD 0.00 0 , UMPS 0.00 0 , UNC50 0.00 0 , UPF3B 0.00 0 , UPK3A 0.00 0 , UQCRB 0.00 0 , UQCRQ 0.00 0 , UROS 0.00 0 , USP18 0.00 0 , USP27X 0.00 0 , USP9X 0.00 0 , UTRN 0.00 0 , VAMP1 0.00 0 , VANGL1 0.00 0 , VANGL2 0.00 0 , VAX1 0.00 0 , VDR 0.00 0 , VEGFC 0.00 0 , VIPAS39 0.00 0 , VLDLR 0.00 0 , VMA21 0.00 0 , VPS13B 0.00 0 , VPS33B 0.00 0 , VPS53 0.00 0 , VRK1 0.00 0 , VSX2 0.00 0 , VTI1A 0.00 0 , VWA2 0.00 0 , WASHC5 0.00 0 , WBP11 0.00 0 , WDPCP 0.00 0 , WDR11 0.00 0 , WDR19 0.00 0 , WDR26 0.00 0 , DYNC2I2 0.00 0 , WDR35 0.00 0 , WDR4 0.00 0 , DYNC2I1 0.00 0 , WDR62 0.00 0 , WDR73 0.00 0 , WDR81 0.00 0 , WNT1 0.00 0 , WNT10B 0.00 0 , WNT3 0.00 0 , WNT4 0.00 0 , WNT5A 0.00 0 , WNT7A 0.00 0 , WRAP53 0.00 0 , WT1 0.00 0 , WWOX 0.00 0 , XRCC4 0.00 0 , XYLT1 0.00 0 , XYLT2 0.00 0 , YAP1 0.00 0 , YWHAG 0.00 0 , YY1 0.00 0 , ZBTB18 0.00 0 , ZBTB20 0.00 0 , ZC4H2 0.00 0 , ZDHHC9 0.00 0 , ZEB2 0.00 0 , ZFP57 0.00 0 , ZFPM2 0.00 0 , ZFYVE26 0.00 0 , ZIC1 0.00 0 , ZIC2 0.00 0 , ZIC3 0.00 0 , ZMPSTE24 0.00 0 , ZMYND10 0.00 0 , ZMYND11 0.00 0 , ZNF423 0.00 0 , ZNF462 0.00 0 , ZNF469 0.00 0 , ZNF750 0.00 0 , ZNRF3 0.00 0 , ZPR1 0.00 0 , ZSWIM6 0.00 0 , -
Congenital malformation gene panel - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment ABAT 100.00 0 No comment ABCC6 100.00 0 No comment ABCD1 99.93 0 No comment ABCD3 99.97 0 No comment ABL1 100.00 0 No comment ACAN 98.89 0 No comment ACO2 100.00 0 No comment ACTA1 100.00 0 No comment ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ADAMTS10 99.88 0 No comment ADAMTS17 89.95 0 No comment ADAMTSL2 100.00 0 No comment ADAR 100.00 0 No comment ADGRG1 100.00 0 No comment ADGRG6 100.00 0 No comment ADSL 100.00 0 No comment AHI1 100.00 0 No comment AIMP1 100.00 0 No comment AIPL1 100.00 0 No comment AIRE 99.88 0 No comment AKR1C2 99.98 0 No comment AKT1 100.00 0 No comment AKT3 100.00 0 No comment ALDH1A3 99.83 0 No comment ALMS1 100.00 0 No comment ALPL 100.00 0 No comment ALX1 100.00 0 No comment ALX3 91.36 0 No comment ALX4 99.70 0 No comment AMER1 100.00 0 No comment AMT 99.94 0 No comment ANKRD11 100.00 0 No comment ANOS1 95.04 0 No comment ANTXR2 100.00 0 No comment AP4B1 100.00 0 No comment AR 99.29 0 No comment ARFGEF2 100.00 0 No comment ARHGAP31 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment ARL13B 100.00 0 No comment ARL6 100.00 0 No comment ARVCF 100.00 0 No comment ARX 78.98 0 No comment ASNS 100.00 0 No comment ASPA 100.00 0 No comment ASPM 100.00 0 No comment ASS1 99.87 0 No comment ASXL1 99.91 0 No comment ATL1 100.00 0 No comment ATM 100.00 0 No comment ATP6V0A2 100.00 0 No comment ATP7A 100.00 0 No comment ATP8A2 99.93 0 No comment ANTXR1 100.00 0 No comment ATRX 100.00 0 No comment ATXN10 99.48 0 No comment B3GALNT2 85.88 0 No comment B3GALT6 56.12 0 No comment B3GAT3 95.56 0 No comment B3GLCT 94.89 0 No comment B4GALT1 100.00 0 No comment B4GAT1 100.00 0 No comment B9D1 100.00 0 No comment B9D2 100.00 0 No comment BBIP1 100.00 0 No comment BBS1 100.00 0 No comment BBS10 100.00 0 No comment BBS12 100.00 0 No comment BBS2 100.00 0 No comment BBS4 100.00 0 No comment BBS5 100.00 0 No comment BBS7 100.00 0 No comment BBS9 100.00 0 No comment BCOR 100.00 0 No comment BDNF 100.00 0 No comment BIN1 100.00 0 No comment BMP2 100.00 0 No comment BMP4 100.00 0 No comment BMPER 100.00 0 No comment BMPR1B 100.00 0 No comment BRAF 96.97 0 No comment BRIP1 100.00 0 No comment BSND 100.00 0 No comment BUB1 100.00 0 No comment BUB1B 100.00 0 No comment BUB3 100.00 0 No comment C12ORF57 100.00 0 No comment CACNA1A 98.78 0 No comment CASK 100.00 0 No comment CBL 100.00 0 No comment CC2D2A 98.16 0 No comment CCBE1 99.97 0 No comment CCDC28B 100.00 0 No comment CCM2 99.98 0 No comment CCNQ 84.41 0 No comment CD96 100.00 0 No comment CDC6 100.00 0 No comment CDH1 98.08 0 No comment CDKL5 100.00 0 No comment CDKN1C 62.25 0 No comment CDON 100.00 0 No comment CDT1 87.95 0 No comment CENPF 100.00 0 No comment CEP164 100.00 0 No comment CEP290 99.99 0 No comment CEP41 100.00 0 No comment CEP57 100.00 0 No comment CFTR 99.91 0 No comment CHAT 100.00 0 No comment CHD7 100.00 0 No comment CHMP1A 100.00 0 No comment CHN1 99.56 0 No comment CHRNA1 100.00 0 No comment CHRNB1 100.00 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 100.00 0 No comment CHST14 98.57 0 No comment CHST3 100.00 0 No comment CHSY1 91.67 0 No comment CHUK 99.76 0 No comment CKAP2L 100.00 0 No comment CNTN1 100.00 0 No comment COG4 100.00 0 No comment COL11A1 100.00 0 No comment COL11A2 99.14 0 No comment COL18A1 97.80 0 No comment COL1A1 100.00 0 No comment COL1A2 99.93 0 No comment COL2A1 100.00 0 No comment COL3A1 100.00 0 No comment COL4A1 98.71 0 No comment COL5A1 98.16 0 No comment COL5A2 100.00 0 No comment COL6A1 100.00 0 No comment COL6A2 100.00 0 No comment COL6A3 100.00 0 No comment COL7A1 100.00 0 No comment COL9A1 100.00 0 No comment COL9A2 100.00 0 No comment COLEC11 100.00 0 No comment COMT 100.00 0 No comment COX7B 99.88 0 No comment CPLANE1 100.00 0 No comment CPT2 98.71 0 No comment CRB1 100.00 0 No comment CREBBP 100.00 0 No comment CRH 100.00 0 No comment CRLF1 89.81 0 No comment CRPPA 95.75 0 No comment CRX 100.00 0 No comment CSPP1 100.00 0 No comment CTCF 100.00 0 No comment CTNS 100.00 0 No comment CTSA 100.00 0 No comment CUL7 99.99 0 No comment CXCR4 100.00 0 No comment CYP11B1 100.00 0 No comment CYP17A1 100.00 0 No comment CYP19A1 100.00 0 No comment CYP21A2 100.00 0 No comment CYP2U1 93.04 0 No comment DARS1 100.00 0 No comment DCHS1 99.64 0 No comment DCX 100.00 0 No comment DDHD2 100.00 0 No comment DDX59 100.00 0 No comment DHCR24 99.96 0 No comment DHCR7 100.00 0 No comment DHH 99.75 0 No comment DHODH 100.00 0 No comment DIS3L2 100.00 0 No comment DKC1 100.00 0 No comment DLL3 78.42 0 No comment DLX5 100.00 0 No comment DMD 100.00 0 No comment DMPK 99.97 0 No comment DNM2 99.95 0 No comment DOCK6 99.12 0 No comment DOK7 98.77 0 No comment DPYD 100.00 0 No comment DSP 100.00 0 No comment DUSP6 100.00 0 No comment DYM 100.00 0 No comment DYNC1H1 100.00 0 No comment DYNC2H1 100.00 0 No comment EARS2 100.00 0 No comment GLB1 100.00 0 No comment ECEL1 95.92 0 No comment EFNB1 100.00 0 No comment EFTUD2 100.00 0 No comment EGR2 100.00 0 No comment EHMT1 98.85 0 No comment EIF2AK3 95.52 0 No comment EIF4A3 100.00 0 No comment EMD 99.84 0 No comment EMG1 100.00 0 No comment EMX2 100.00 0 No comment EOGT 100.00 0 No comment EP300 100.00 0 No comment EPG5 100.00 0 No comment EPHX1 100.00 0 No comment ERBB3 100.00 0 No comment ERCC1 100.00 0 No comment ERCC2 100.00 0 No comment ERCC4 100.00 0 No comment ERCC5 100.00 0 No comment ERCC6 100.00 0 No comment ERLIN2 100.00 0 No comment ESCO2 100.00 0 No comment EVC 94.45 0 No comment EVC2 99.55 0 No comment EYA1 100.00 0 No comment EZH2 100.00 0 No comment FA2H 92.06 0 No comment FAM111A 100.00 0 No comment FAM20C 92.71 0 No comment FANCA 99.70 0 No comment FANCB 100.00 0 No comment FANCC 100.00 0 No comment FANCD2 100.00 0 No comment FANCE 91.17 0 No comment FANCF 100.00 0 No comment FANCG 100.00 0 No comment FANCI 100.00 0 No comment FANCL 100.00 0 No comment FANCM 100.00 0 No comment FAT4 100.00 0 No comment FBN1 100.00 0 No comment FBN2 100.00 0 No comment FBXL4 100.00 0 No comment FGD1 99.39 0 No comment FGF10 100.00 0 No comment FGF17 100.00 0 No comment FGF8 94.82 0 No comment FGF9 100.00 0 No comment FGFR1 100.00 0 No comment FGFR2 100.00 0 No comment FGFR3 99.26 0 No comment FH 100.00 0 No comment FIG4 100.00 0 No comment FKBP14 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FLNB 100.00 0 No comment FLRT3 100.00 0 No comment FLT4 98.20 0 No comment FLVCR2 100.00 0 No comment FOXC1 62.57 0 No comment FOXC2 72.63 0 No comment FOXE1 60.48 0 No comment FOXG1 85.88 0 No comment FRAS1 100.00 0 No comment FREM1 100.00 0 No comment FREM2 100.00 0 No comment FTO 100.00 0 No comment FUZ 100.00 0 No comment G6PC3 100.00 0 No comment GAA 100.00 0 No comment GATA1 100.00 0 No comment GATA4 80.69 0 No comment GATA6 81.11 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCSH 76.04 0 No comment GDF1 58.25 0 No comment GDF3 100.00 0 No comment GDF5 100.00 0 No comment GDF6 93.56 0 No comment GFAP 100.00 0 No comment GFM1 100.00 0 No comment GJA1 100.00 0 No comment GJB2 98.23 0 No comment GJC2 81.91 0 No comment GLDC 96.53 0 No comment GLE1 100.00 0 No comment GLI2 95.11 0 No comment GLI3 100.00 0 No comment GLUL 100.00 0 No comment GMPPB 100.00 0 No comment GNAI3 100.00 0 No comment GNAO1 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GP1BB 25.16 0 No comment GPC3 100.00 0 No comment GPC6 100.00 0 No comment GPI 100.00 0 No comment GPSM2 100.00 0 No comment GRHL3 100.00 0 No comment GRIP1 100.00 0 No comment GRM1 100.00 0 No comment GUCY2D 99.13 0 No comment GUSB 100.00 0 No comment H19 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HCCS 100.00 0 No comment HDAC8 100.00 0 No comment HES7 99.67 0 No comment HESX1 100.00 0 No comment HIBCH 100.00 0 No comment HIRA 99.90 0 No comment HOXA11 99.40 0 No comment HOXA13 73.35 0 No comment HOXA2 99.99 0 No comment HOXD13 80.52 0 No comment HPGD 99.99 0 No comment HRAS 100.00 0 No comment HS6ST1 98.52 0 No comment HSD17B3 100.00 0 No comment HSD17B4 100.00 0 No comment HSPG2 99.43 0 No comment HYAL1 100.00 0 No comment HYLS1 100.00 0 No comment IBA57 87.89 0 No comment CILK1 100.00 0 No comment IDS 100.00 0 No comment IDUA 88.67 0 No comment IER3IP1 99.93 0 No comment IFIH1 100.00 0 No comment IFT172 100.00 0 No comment IFT27 100.00 0 No comment IFT80 100.00 0 No comment IFT88 99.71 0 No comment IGBP1 100.00 0 No comment IGHMBP2 100.00 0 No comment IHH 99.88 0 No comment IKBKG 99.74 0 No comment IL10 100.00 0 No comment IL17RD 98.31 0 No comment IMPDH1 97.72 0 No comment INPP5E 99.54 0 No comment INSR 97.31 0 No comment IQCB1 100.00 0 No comment IRF6 100.00 0 No comment ITGA6 100.00 0 No comment ITGA8 99.96 0 No comment ITGB4 98.41 0 No comment ITPR1 100.00 0 No comment JAG1 99.66 0 No comment JAM3 100.00 0 No comment JUP 100.00 0 No comment KANSL1 100.00 0 No comment KAT6B 100.00 0 No comment KCNA1 100.00 0 No comment KCNJ13 100.00 0 No comment KCNJ2 100.00 0 No comment KCNK9 100.00 0 No comment KCNQ1OT1 0.55 0 No comment KCNQ2 99.98 0 No comment KCNT1 99.74 0 No comment KCTD1 92.53 0 No comment KCTD7 97.35 0 No comment KDM6A 100.00 0 No comment KIF14 100.00 0 No comment KIF1A 99.90 0 No comment KIFBP 100.00 0 No comment KIF2A 98.88 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KISS1R 94.58 0 No comment KMT2D 100.00 0 No comment KRAS 100.00 0 No comment L1CAM 100.00 0 No comment L2HGDH 99.96 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 97.51 0 No comment LARGE1 100.00 0 No comment LBR 100.00 0 No comment LCA5 100.00 0 No comment LEMD3 100.00 0 No comment LFNG 82.55 0 No comment LHB 97.18 0 No comment LHX3 94.36 0 No comment LHX4 100.00 0 No comment LIFR 100.00 0 No comment LMBR1 100.00 0 No comment LMNA 99.93 0 No comment LMNB1 97.46 0 No comment LMX1B 99.99 0 No comment LRAT 100.00 0 No comment LRP2 99.96 0 No comment CORIN 98.90 0 No comment LZTFL1 100.00 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MAP3K1 92.79 0 No comment MASP1 100.00 0 No comment MBTPS2 100.00 0 No comment MCOLN1 97.27 0 No comment MCPH1 100.00 0 No comment MED12 99.96 0 No comment MEF2C 100.00 0 No comment MEGF10 100.00 0 No comment MEOX1 100.00 0 No comment MESP2 100.00 0 No comment MFRP 100.00 0 No comment MGP 100.00 0 No comment MID1 100.00 0 No comment MIPOL1 100.00 0 No comment MKKS 100.00 0 No comment MKS1 100.00 0 No comment MLH1 100.00 0 No comment MOCS1 99.95 0 No comment MOCS2 100.00 0 No comment MPL 100.00 0 No comment MPZ 100.00 0 No comment MRPS16 100.00 0 No comment MRPS22 100.00 0 No comment MSH2 100.00 0 No comment MSH6 100.00 0 No comment MSX1 97.41 0 No comment MSX2 100.00 0 No comment MTM1 100.00 0 No comment MUSK 100.00 0 No comment MVK 100.00 0 No comment MYBPC1 100.00 0 No comment MYH2 100.00 0 No comment MYH3 100.00 0 No comment MYH8 100.00 0 No comment MYOD1 98.47 0 No comment NAA10 96.03 0 No comment NBN 100.00 0 No comment NDE1 100.00 0 No comment NEB 99.99 0 No comment NECTIN1 100.00 0 No comment NEK1 100.00 0 No comment NEXMIF 100.00 0 No comment NF1 99.95 0 No comment NFIX 97.15 0 No comment NIN 100.00 0 No comment NIPBL 99.98 0 No comment NKX2-5 100.00 0 No comment NMNAT1 100.00 0 No comment NODAL 99.99 0 No comment NOG 100.00 0 No comment NOTCH2 99.76 0 No comment NPC1 98.40 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NPHP3 99.87 0 No comment NPRL2 100.00 0 No comment NR0B1 100.00 0 No comment NR5A1 100.00 0 No comment NRAS 100.00 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment NSMF 95.23 0 No comment NT5C2 100.00 0 No comment OBSL1 98.31 0 No comment OCLN 100.00 0 No comment OCRL 99.77 0 No comment OFD1 99.88 0 No comment OPHN1 100.00 0 No comment SLC25A15 100.00 0 No comment ORC4 100.00 0 No comment ORC6 100.00 0 No comment OTX2 100.00 0 No comment PAFAH1B1 100.00 0 No comment PALB2 100.00 0 No comment PAX2 99.80 0 No comment PAX3 100.00 0 No comment PAX6 100.00 0 No comment PCNT 100.00 0 No comment PDE4D 98.77 0 No comment PDE6D 100.00 0 No comment PDGFB 99.77 0 No comment PDGFRB 100.00 0 No comment PDHA1 98.17 0 No comment PDHB 100.00 0 No comment PDHX 99.87 0 No comment PDYN 100.00 0 No comment PEX1 100.00 0 No comment PEX10 88.47 0 No comment PEX11B 100.00 0 No comment PEX12 100.00 0 No comment PEX13 100.00 0 No comment PEX14 100.00 0 No comment PEX16 100.00 0 No comment PEX19 100.00 0 No comment PEX2 100.00 0 No comment PEX26 100.00 0 No comment PEX3 100.00 0 No comment PEX5 100.00 0 No comment PEX6 98.56 0 No comment PEX7 91.13 0 No comment PFKM 100.00 0 No comment PGM1 100.00 0 No comment PHF6 100.00 0 No comment PHF8 100.00 0 No comment PIGA 100.00 0 No comment PIGL 100.00 0 No comment PIGV 100.00 0 No comment PIK3CA 100.00 0 No comment PIK3R2 89.19 0 No comment PIP5K1C 95.60 0 No comment PITX1 98.27 0 No comment PKHD1 100.00 0 No comment PLCB4 100.00 0 No comment PLEC 99.82 0 No comment PLK4 100.00 0 No comment PLOD1 99.91 0 No comment PLOD3 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PMP22 100.00 0 No comment PMS2 99.97 0 No comment PNKP 100.00 0 No comment POLR1C 100.00 0 No comment POLR1D 100.00 0 No comment POLR3A 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PORCN 100.00 0 No comment POU1F1 100.00 0 No comment PQBP1 100.00 0 No comment PRDM5 100.00 0 No comment PRG4 100.00 0 No comment PRKAR1A 100.00 0 No comment PROK2 98.51 0 No comment PROKR2 100.00 0 No comment PROP1 100.00 0 No comment PRRX1 100.00 0 No comment PRSS56 98.00 0 No comment PRX 100.00 0 No comment PSAP 100.00 0 No comment PSAT1 100.00 0 No comment PTCH1 98.48 0 No comment PTCH2 100.00 0 No comment PTDSS1 100.00 0 No comment PTEN 98.86 0 No comment PTH1R 99.01 0 No comment PTPN11 98.80 0 No comment PYCR1 100.00 0 No comment RAB18 100.00 0 No comment RAB23 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RAB40AL 100.00 0 No comment RAD21 100.00 0 No comment RAD51C 100.00 0 No comment RAF1 100.00 0 No comment RAI1 96.06 0 No comment RAPSN 100.00 0 No comment PRKRA 90.07 0 No comment RB1 99.04 0 No comment RBM10 100.00 0 No comment RBM8A 100.00 0 No comment RD3 100.00 0 No comment RDH12 100.00 0 No comment RECQL4 96.37 0 No comment RELN 99.96 0 No comment RET 98.13 0 No comment RIPK4 100.00 0 No comment RIT1 100.00 0 No comment RMND1 100.00 0 No comment RMRP 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 95.67 0 No comment RNASEH2C 100.00 0 No comment RNU4ATAC 100.00 0 No comment ROR2 98.67 0 No comment RPE65 100.00 0 No comment RPGRIP1 100.00 0 No comment RPGRIP1L 96.45 0 No comment RPL11 100.00 0 No comment RPL15 86.16 0 No comment RPL26 100.00 0 No comment RPL35A 100.00 0 No comment RPL5 99.37 0 No comment RPS10 100.00 0 No comment RPS17 98.70 0 No comment RPS19 100.00 0 No comment RPS24 100.00 0 No comment RPS26 100.00 0 No comment RPS6KA3 98.71 0 No comment RPS7 92.83 0 No comment RTTN 100.00 0 No comment RUNX2 98.51 0 No comment RXYLT1 99.84 0 No comment RYR1 98.38 0 No comment SACS 99.97 0 No comment SALL1 100.00 0 No comment SALL4 100.00 0 No comment SAMHD1 100.00 0 No comment SATB2 100.00 0 No comment SC5D 100.00 0 No comment SCARF2 86.46 0 No comment SDCCAG8 100.00 0 No comment SEC23A 100.00 0 No comment SELENON 84.04 0 No comment SEMA3A 100.00 0 No comment SEMA3E 100.00 0 No comment SEPSECS 99.97 0 No comment SEPTIN9 100.00 0 No comment SETBP1 99.99 0 No comment SF3B4 100.00 0 No comment SH3PXD2B 99.68 0 No comment SHANK3 83.99 0 No comment SHH 92.83 0 No comment SHOC2 100.00 0 No comment SIX1 100.00 0 No comment SIX3 99.59 0 No comment SIX5 88.67 0 No comment SIX6 100.00 0 No comment HHAT 90.28 0 No comment SLC12A1 100.00 0 No comment SLC12A6 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A19 100.00 0 No comment SLC26A2 99.96 0 No comment SLC2A10 98.97 0 No comment SLC35A2 100.00 0 No comment SLC35A3 100.00 0 No comment SLC35D1 99.99 0 No comment SLC6A8 98.78 0 No comment SLC9A6 99.96 0 No comment SLX4 100.00 0 No comment SMAD3 100.00 0 No comment SMAD4 100.00 0 No comment SMARCA4 100.00 0 No comment SMARCB1 100.00 0 No comment SMARCE1 100.00 0 No comment SMC1A 100.00 0 No comment SMC3 100.00 0 No comment SMOC1 99.36 0 No comment SNAP29 100.00 0 No comment SNIP1 100.00 0 No comment SOS1 100.00 0 No comment SOX10 96.79 0 No comment SOX2 98.05 0 No comment SOX3 85.62 0 No comment SOX9 97.88 0 No comment SPATA7 100.00 0 No comment SPECC1L 100.00 0 No comment SPG11 100.00 0 No comment SPRED1 100.00 0 No comment SPRY4 100.00 0 No comment SPTAN1 100.00 0 No comment SRD5A2 100.00 0 No comment SRD5A3 99.42 0 No comment SRY 39.13 0 No comment STAC3 100.00 0 No comment STAMBP 100.00 0 No comment STAT3 100.00 0 No comment STS 100.00 0 No comment STXBP1 100.00 0 No comment SUFU 100.00 0 No comment SUMO1 99.91 0 No comment SYNE1 100.00 0 No comment TACR3 100.00 0 No comment TAF2 100.00 0 No comment WWTR1 99.81 0 No comment TBC1D20 93.59 0 No comment TBX1 77.39 0 No comment TBX15 100.00 0 No comment TBX22 100.00 0 No comment TBX3 99.88 0 No comment TBX4 94.32 0 No comment TBX5 100.00 0 No comment TBX6 100.00 0 No comment TBXT 100.00 0 No comment TCF4 100.00 0 No comment TCOF1 99.99 0 No comment TCTN1 93.78 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TECPR2 100.00 0 No comment TFAP2A 100.00 0 No comment TGFB3 100.00 0 No comment TGFBR1 92.91 0 No comment TGFBR2 100.00 0 No comment TGIF1 100.00 0 No comment TMCO1 100.00 0 No comment TMEM138 100.00 0 No comment TMEM216 100.00 0 No comment TMEM231 100.00 0 No comment TMEM237 99.97 0 No comment TMEM67 100.00 0 No comment TMEM70 100.00 0 No comment TNNI2 100.00 0 No comment TNNT3 100.00 0 No comment TNXB 100.00 0 No comment TP63 100.00 0 No comment TPM2 100.00 0 No comment TRAPPC9 99.98 0 No comment TREM2 100.00 0 No comment TREX1 100.00 0 No comment TRIM32 100.00 0 No comment TRIP11 100.00 0 No comment TRPV4 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 94.23 0 No comment TSPYL1 100.00 0 No comment TTC8 100.00 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBGCP6 100.00 0 No comment TULP1 100.00 0 No comment TWIST1 70.93 0 No comment TYR 100.00 0 No comment TYROBP 100.00 0 No comment UBA1 100.00 0 No comment UBB 100.00 0 No comment UBE3A 100.00 0 No comment UBE3B 100.00 0 No comment UFD1 100.00 0 No comment UPF3B 100.00 0 No comment UPK3A 99.39 0 No comment UTRN 100.00 0 No comment VANGL1 100.00 0 No comment VANGL2 100.00 0 No comment VAX1 89.49 0 No comment VIPAS39 100.00 0 No comment VPS13B 99.25 0 No comment VPS33B 100.00 0 No comment VSX2 100.00 0 No comment VTI1A 100.00 0 No comment WASHC5 100.00 0 No comment WDPCP 100.00 0 No comment WDR11 100.00 0 No comment WDR19 100.00 0 No comment DYNC2I2 93.01 0 No comment WDR35 100.00 0 No comment DYNC2I1 99.86 0 No comment WDR62 100.00 0 No comment WDR81 99.97 0 No comment WNT10B 98.99 0 No comment WNT3 100.00 0 No comment WNT4 92.22 0 No comment WNT5A 99.97 0 No comment WNT7A 100.00 0 No comment WT1 96.46 0 No comment WWOX 100.00 0 No comment ZBTB18 100.00 0 No comment ZDHHC9 100.00 0 No comment ZEB2 100.00 0 No comment ZFPM2 99.96 0 No comment ZFYVE26 100.00 0 No comment ZIC1 100.00 0 No comment ZIC2 80.54 0 No comment ZMPSTE24 100.00 0 No comment ZNF423 100.00 0 No comment ZNF469 99.70 0 No comment -
Hypogonadotropic Hypogonadism/Kallmann (61 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments LEPR 98.65 0 NM_002303 KISS1 99.66 0 NM_002256 RD3 99.63 0 NM_183059 HS6ST1 92.39 0 NM_004807 CXCR4 99.63 0 NM_003467 CCDC141 97.45 0 NM_173648 NRP2 99.58 0 NM_201266 IL17RD 94.68 0 NM_017563 HESX1 98.36 0 NM_003865 PROK2 90.75 0 NM_001126128 GAP43 97.81 0 NM_001130064 PLXNA1 99.67 0 NM_032242 SOX2 95.94 0 NM_003106 KLB 99.62 0 NM_175737 GNRHR 99.45 0 NM_000406 TACR3 99.41 0 NM_001059 OTUD4 98.02 0 NM_001102653 PCSK1 99.63 0 NM_000439 SOX9 99.60 0 NM_001035235 SPRY4 99.69 0 NM_030964 PROP1 99.69 0 NM_006261 GLI3 99.55 0 NM_000168 SEMA3E 99.45 0 NM_012431 SEMA3A 99.53 0 NM_006080 FEZF1 99.43 0 NM_001024613 LEP 99.69 0 NM_000230 FGF17 99.67 0 NM_003867 GNRH1 99.54 0 NM_000825 FGFR1 99.69 0 NM_023110 CHD7 99.53 0 NM_017780 TRAPPC9 99.57 0 NM_031466 PALM2 98.64 0 NM_001037293 NOTCH1 96.74 0 NM_017617 NSMF 93.42 0 NM_015537 MASTL 99.20 0 NM_032844 FGF8 78.88 0 NM_033163 WDR11 99.33 0 NM_018117 CCKBR 99.61 0 NM_176875 FSHB 99.64 0 NM_000510 PLEKHA5 98.89 0 NM_001143821 PDE3A 99.05 0 NM_000921 TSPAN11 99.69 0 NM_001080509 AMN1 99.52 0 NM_001113402 TAC3 99.64 0 NM_013251 DUSP6 99.68 0 NM_001946 POLR3B 99.29 0 NM_018082 CRY1 99.26 0 NM_004075 NOS1 99.42 0 NM_000620 SEMA7A 92.63 0 NM_003612 DCC 99.55 0 NM_005215 KISS1R 85.01 0 NM_032551 AXL 99.69 0 NM_021913 LHB 99.69 0 NM_000894 PROKR2 99.69 0 NM_144773 JAG1 97.49 0 NM_000214 FLRT3 99.67 0 NM_198391 SOX10 93.26 0 NM_006941 ANOS1 93.11 0 NM_000216 NR0B1 99.34 0 NM_000475 FGF13 99.32 0 NM_004114 SOX3 83.29 0 NM_005634 -
Immunogenetics (21 genes)
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AIRE BTK CD40 CD40LG ADA2 CTLA4 CXCR4 CYBB FAS FASLG FOXP3 GATA2 IL12RB1 IL2RG PIK3CD PIK3R1 SH2D1A STAT1 STAT3 WAS XIAP -
Primary immune deficiencies (444 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACD 95.00 0 NM_001082486.1/ interpretable range CS1>95% ACP5 95.00 0 NM_001111035.2/ interpretable range CS1>95% ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95% ADA 95.00 0 NM_000022.3/ interpretable range CS1>95% ADA2 95.00 1 NM_001282225.1/ interpretable range CS1>95% ADAM17 95.00 0 NM_003183.6/ interpretable range CS1>95% ADAR 95.00 0 NM_001111.5/ interpretable range CS1>95% AICDA 95.00 0 NM_020661.3/ interpretable range CS1>95% AIRE 95.00 0 NM_000383.3/ interpretable range CS1>95% AK2 95.00 0 NM_001625.3/ interpretable range CS1>95% ALPI 95.00 0 NM_001631.4/ interpretable range CS1>95% AP1S3 95.00 0 NM_001039569.1/ interpretable range CS1>95% AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95% AP3D1 95.00 0 NM_001261826.3/ interpretable range CS1>95% APOL1 95.00 0 NM_003661.3/ interpretable range CS1>95% ARPC1B 95.00 0 NM_005720.4/ interpretable range CS1>95% ATAD3A 95.00 0 NM_001170535.2/ interpretable range CS1>95% ATG4A 95.00 0 NM_052936.4/ interpretable range CS1>95% ATM 95.00 0 NM_000051.3/ interpretable range CS1>95% ATP6AP1 95.00 0 NM_001183.5/ interpretable range CS1>95% ATP6V0A2 95.00 0 NM_012463.3/ interpretable range CS1>95% B2M 95.00 0 NM_004048.2/ interpretable range CS1>95% BACH2 95.00 0 NM_021813.3/ interpretable range CS1>95% BCL10 95.00 0 NM_003921.5/ interpretable range CS1>95% BCL11B 95.00 0 NM_138576.3/ interpretable range CS1>95% BLM 95.00 0 NM_000057.3/ interpretable range CS1>95% BLNK 95.00 0 NM_013314.3/ interpretable range CS1>95% BPIFA1 95.00 0 NM_016583.3/ interpretable range CS1>95% BTK 95.00 0 NM_000061.2/ interpretable range CS1>95% C1QA 95.00 0 NM_015991.3/ interpretable range CS1>95% C1QB 95.00 0 NM_000491.4/ interpretable range CS1>95% C1QC 95.00 0 NM_172369.4/ interpretable range CS1>95% C1R 95.00 0 NM_001733.6/ interpretable range CS1>95% C1S 95.00 0 NM_201442.3/ interpretable range CS1>95% C2 95.00 0 NM_000063.5/ interpretable range CS1>95% C2orf69 95.00 0 NM_153689.5/ interpretable range CS1>95% C3 95.00 0 NM_000064.3/ interpretable range CS1>95% C5 95.00 0 NM_001735.2/ interpretable range CS1>95% C6 95.00 0 NM_000065.3/ interpretable range CS1>95% C7 95.00 0 NM_000587.3/ interpretable range CS1>95% C8A 95.00 0 NM_000562.2/ interpretable range CS1>95% C8B 95.00 0 NM_000066.3/ interpretable range CS1>95% C9 95.00 0 NM_001737.4/ interpretable range CS1>95% CARD11 95.00 0 NM_032415.5/ interpretable range CS1>95% CARD14 95.00 0 NM_024110.4/ interpretable range CS1>95% CARD9 95.00 0 NM_052813.4/ interpretable range CS1>95% CARMIL2 95.00 0 NM_001013838.2/ interpretable range CS1>95% CASP10 95.00 0 NM_032977.3/ interpretable range CS1>95% CASP8 95.00 0 NM_001228.4/ interpretable range CS1>95% CCBE1 95.00 0 NM_133459.4/ interpretable range CS1>95% CD19 95.00 0 NM_001770.5/ interpretable range CS1>95% CD247 95.00 0 NM_198053.2/ interpretable range CS1>95% CD27 95.00 0 NM_001242.4/ interpretable range CS1>95% CD28 95.00 0 NM_006139.3/ interpretable range CS1>95% CD3D 95.00 0 NM_000732.4/ interpretable range CS1>95% CD3E 95.00 0 NM_000733.3/ interpretable range CS1>95% CD3G 95.00 0 NM_000073.2/ interpretable range CS1>95% CD4 95.00 0 NM_000616.4/ interpretable range CS1>95% CD40 95.00 0 NM_001250.5/ interpretable range CS1>95% CD40LG 95.00 0 NM_000074.2/ interpretable range CS1>95% CD46 95.00 0 NM_002389.4/ interpretable range CS1>95% CD48 95.00 0 NM_001778.3/ interpretable range CS1>95% CD55 95.00 0 NM_000574.4/ interpretable range CS1>95% CD59 95.00 0 NM_203330.2/ interpretable range CS1>95% CD70 95.00 0 NM_001252.4/ interpretable range CS1>95% CD79A 95.00 0 NM_001783.3/ interpretable range CS1>95% CD79B 95.00 0 NM_000626.3/ interpretable range CS1>95% CD81 95.00 0 NM_004356.3/ interpretable range CS1>95% CD8A 95.00 0 NM_001768.6/ interpretable range CS1>95% CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95% CDCA7 95.00 0 NM_031942.4/ interpretable range CS1>95% CDH17 95.00 0 NM_004063.3/ interpretable range CS1>95% CEBPE 95.00 0 NM_001805.3/ interpretable range CS1>95% CFB 95.00 0 NM_001710.5/ interpretable range CS1>95% CFD 95.00 0 NM_001928.3/ interpretable range CS1>95% CFH 95.00 0 NM_000186.3/ interpretable range CS1>95% CFHR1 95.00 0 NM_002113.2/ interpretable range CS1>95% CFHR2 95.00 0 NM_005666.3/ interpretable range CS1>95% CFHR3 95.00 0 NM_021023.5/ interpretable range CS1>95% CFHR4 95.00 0 NM_001201550.2/ interpretable range CS1>95% CFHR5 95.00 0 NM_030787.3/ interpretable range CS1>95% CFI 95.00 0 NM_000204.4/ interpretable range CS1>95% CFP 95.00 0 NM_002621.2/ interpretable range CS1>95% CFTR 95.00 0 NM_000492.3/ interpretable range CS1>95% CHD7 95.00 0 NM_017780.3/ interpretable range CS1>95% CHUK 95.00 0 NM_001278.4/ interpretable range CS1>95% CIB1 95.00 0 NM_006384.3/ interpretable range CS1>95% CIITA 95.00 0 NM_000246.3/ interpretable range CS1>95% CLCN7 95.00 0 NM_001287.5/ interpretable range CS1>95% CLPB 95.00 0 NM_030813.5/ interpretable range CS1>95% COPA 95.00 0 NM_004371.3/ interpretable range CS1>95% COPG1 95.00 0 NM_016128.3/ interpretable range CS1>95% CORO1A 95.00 0 NM_007074.3/ interpretable range CS1>95% CR2 95.00 0 NM_001006658.2/ interpretable range CS1>95% CRACR2A 95.00 0 NM_001144958.1/ interpretable range CS1>95% CSF2RB 95.00 0 NM_000395.2/ interpretable range CS1>95% CSF3R 95.00 0 NM_000760.3/ interpretable range CS1>95% CTC1 95.00 0 NM_025099.5/ interpretable range CS1>95% CTLA4 95.00 0 NM_005214.4/ interpretable range CS1>95% CTNNBL1 95.00 0 NM_030877.4/ interpretable range CS1>95% CTPS1 95.00 0 NM_001905.3/ interpretable range CS1>95% CTSC 95.00 0 NM_001814.5/ interpretable range CS1>95% CXCR2 95.00 0 NM_001557.3/ interpretable range CS1>95% CXCR4 95.00 0 NM_003467.2/ interpretable range CS1>95% CYBA 95.00 0 NM_000101.3/ interpretable range CS1>95% CYBB 95.00 1 NM_000397.3/ interpretable range CS1>95% CYBC1 95.00 0 NM_001033046.3/ interpretable range CS1>95% DBR1 95.00 0 NM_016216.3/ interpretable range CS1>95% DCLRE1B 95.00 0 NM_022836.3/ interpretable range CS1>95% DCLRE1C 95.00 0 NM_001033855.2/ interpretable range CS1>95% DEF6 95.00 0 NM_022047.3/ interpretable range CS1>95% DGAT1 95.00 0 NM_012079.5/ interpretable range CS1>95% DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95% DKC1 95.00 0 NM_001363.4/ interpretable range CS1>95% DNAJC21 95.00 0 NM_001012339.3/ interpretable range CS1>95% DNASE1 95.00 0 NM_005223.3/ interpretable range CS1>95% DNASE1L3 95.00 0 NM_004944.3/ interpretable range CS1>95% DNASE2 95.00 0 NM_001375.2/ interpretable range CS1>95% DNMT3B 95.00 0 NM_006892.3/ interpretable range CS1>95% DOCK2 95.00 0 NM_004946.2/ interpretable range CS1>95% DOCK8 95.00 0 NM_203447.3/ interpretable range CS1>95% DSG1 95.00 0 NM_001942.3/ interpretable range CS1>95% DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95% EFL1 95.00 0 NM_024580.5/ interpretable range CS1>95% ELANE 95.00 0 NM_001972.3/ interpretable range CS1>95% ELF4 95.00 0 NM_001421.3/ interpretable range CS1>95% EPG5 95.00 0 NM_020964.2/ interpretable range CS1>95% ERBIN 95.00 0 NM_001253697.1/ interpretable range CS1>95% EXTL3 95.00 0 NM_001440.3/ interpretable range CS1>95% FADD 95.00 0 NM_003824.3/ interpretable range CS1>95% FAS 95.00 0 NM_000043.5/ interpretable range CS1>95% FASLG 95.00 0 NM_000639.2/ interpretable range CS1>95% FAT4 95.00 0 NM_024582.4/ interpretable range CS1>95% FCGR3A 95.00 0 NM_000569.7/ interpretable range CS1>95% FCHO1 95.00 0 NM_015122.2/ interpretable range CS1>95% FCN3 95.00 0 NM_003665.3/ interpretable range CS1>95% FERMT1 95.00 0 NM_017671.4/ interpretable range CS1>95% FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95% FNIP1 95.00 0 NM_133372.2/ interpretable range CS1>95% FOXN1 95.00 0 NM_003593.2/ interpretable range CS1>95% FOXP3 95.00 0 NM_014009.3/ interpretable range CS1>95% G6PC3 95.00 0 NM_138387.3/ interpretable range CS1>95% G6PD 95.00 0 NM_001042351.2/ interpretable range CS1>95% GATA2 95.00 1 NM_032638.4/ interpretable range CS1>95% GFI1 95.00 0 NM_005263.4/ interpretable range CS1>95% GIMAP5 95.00 0 NM_018384.4/ interpretable range CS1>95% GIMAP6 95.00 0 NM_001244072.1/ interpretable range CS1>95% GINS1 95.00 0 NM_021067.4/ interpretable range CS1>95% GUCY2C 95.00 0 NM_004963.3/ interpretable range CS1>95% HAVCR2 95.00 0 NM_032782.4/ interpretable range CS1>95% HAX1 95.00 0 NM_006118.3/ interpretable range CS1>95% HCK 95.00 0 NM_002110.3/ interpretable range CS1>95% HELLS 95.00 0 NM_018063.4/ interpretable range CS1>95% HTRA2 95.00 0 NM_013247.4/ interpretable range CS1>95% HYOU1 95.00 0 NM_006389.4/ interpretable range CS1>95% ICOS 95.00 0 NM_012092.3/ interpretable range CS1>95% IFIH1 95.00 0 NM_022168.3/ interpretable range CS1>95% IFNAR1 95.00 0 NM_000629.2/ interpretable range CS1>95% IFNAR2 95.00 0 NM_207585.2/ interpretable range CS1>95% IFNG 95.00 0 NM_000619.2/ interpretable range CS1>95% IFNGR1 95.00 0 NM_000416.2/ interpretable range CS1>95% IFNGR2 95.00 0 NM_005534.3/ interpretable range CS1>95% IGLL1 95.00 0 NM_020070.3/ interpretable range CS1>95% IKBKB 95.00 0 NM_001556.2/ interpretable range CS1>95% IKBKG 95.00 0 NM_001099857.2/ interpretable range CS1>95% IKZF1 95.00 0 NM_006060.6/ interpretable range CS1>95% IKZF2 95.00 0 NM_001079526.1/ interpretable range CS1>95% IKZF3 95.00 0 NM_012481.4/ interpretable range CS1>95% IL10 95.00 0 NM_000572.2/ interpretable range CS1>95% IL10RA 95.00 0 NM_001558.3/ interpretable range CS1>95% IL10RB 95.00 0 NM_000628.4/ interpretable range CS1>95% IL12B 95.00 0 NM_002187.2/ interpretable range CS1>95% IL12RB1 95.00 0 NM_005535.2/ interpretable range CS1>95% IL12RB2 95.00 0 NM_001559.2/ interpretable range CS1>95% IL17F 95.00 0 NM_052872.3/ interpretable range CS1>95% IL17RA 95.00 0 NM_014339.6/ interpretable range CS1>95% IL17RC 95.00 0 NM_153461.3/ interpretable range CS1>95% IL18BP 95.00 0 NM_173042.2/ interpretable range CS1>95% IL1RN 95.00 0 NM_173841.2/ interpretable range CS1>95% IL21 95.00 0 NM_021803.3/ interpretable range CS1>95% IL21R 95.00 0 NM_021798.3/ interpretable range CS1>95% IL23R 95.00 0 NM_144701.2/ interpretable range CS1>95% IL2RA 95.00 0 NM_000417.2/ interpretable range CS1>95% IL2RB 95.00 0 NM_000878.4/ interpretable range CS1>95% IL2RG 95.00 0 NM_000206.2/ interpretable range CS1>95% IL36RN 95.00 0 NM_012275.2/ interpretable range CS1>95% IL37 95.00 0 NM_014439.3/ interpretable range CS1>95% IL6R 95.00 0 NM_000565.3/ interpretable range CS1>95% IL6ST 95.00 0 NM_002184.3/ interpretable range CS1>95% IL7 95.00 0 NM_000880.3/ interpretable range CS1>95% IL7R 95.00 0 NM_002185.4/ interpretable range CS1>95% INO80 95.00 0 NM_017553.2/ interpretable range CS1>95% IRAK1 95.00 0 NM_001569.3/ interpretable range CS1>95% IRAK4 95.00 0 NM_016123.3/ interpretable range CS1>95% IRF2BP2 95.00 0 NM_182972.2/ interpretable range CS1>95% IRF3 95.00 0 NM_001571.5/ interpretable range CS1>95% IRF4 95.00 0 NM_002460.3/ interpretable range CS1>95% IRF7 95.00 0 NM_004031.2/ interpretable range CS1>95% IRF8 95.00 0 NM_002163.2/ interpretable range CS1>95% IRF9 95.00 0 NM_006084.4/ interpretable range CS1>95% ISG15 95.00 0 NM_005101.3/ interpretable range CS1>95% ITCH 95.00 0 NM_031483.6/ interpretable range CS1>95% ITGB2 95.00 0 NM_000211.4/ interpretable range CS1>95% ITK 95.00 0 NM_005546.3/ interpretable range CS1>95% ITPKB 95.00 0 NM_002221.3/ interpretable range CS1>95% ITPKC 95.00 0 NM_025194.2/ interpretable range CS1>95% ITPR3 95.00 0 NM_002224.3/ interpretable range CS1>95% JAGN1 95.00 0 NM_032492.3/ interpretable range CS1>95% JAK1 95.00 0 NM_002227.3/ interpretable range CS1>95% JAK3 95.00 0 NM_000215.3/ interpretable range CS1>95% KARS1 95.00 0 NM_001130089.1/ interpretable range CS1>95% KMT2A 95.00 0 NM_001197104.1/ interpretable range CS1>95% KMT2D 95.00 0 NM_003482.3/ interpretable range CS1>95% KPNA2 95.00 0 NM_001320611.1/ interpretable range CS1>95% KRAS 95.00 0 NM_004985.4/ interpretable range CS1>95% LACC1 95.00 0 NM_001128303.2/ interpretable range CS1>95% LAMTOR2 95.00 0 NM_014017.3/ interpretable range CS1>95% LAT 95.00 0 NM_001014987.1/ interpretable range CS1>95% LCK 95.00 0 NM_001042771.2/ interpretable range CS1>95% LCP2 95.00 0 NM_005565.4/ interpretable range CS1>95% LIG1 95.00 0 NM_000234.2/ interpretable range CS1>95% LIG4 95.00 0 NM_002312.3/ interpretable range CS1>95% LPIN2 95.00 0 NM_014646.2/ interpretable range CS1>95% LRBA 95.00 0 NM_006726.4/ interpretable range CS1>95% LRRC32 95.00 0 NM_005512.2/ interpretable range CS1>95% LRRC8A 95.00 0 NM_019594.3/ interpretable range CS1>95% LSM11 95.00 0 NM_173491.3/ interpretable range CS1>95% LYST 95.00 0 NM_000081.3/ interpretable range CS1>95% MAGT1 95.00 0 NM_032121.5/ interpretable range CS1>95% MALT1 95.00 0 NM_006785.3/ interpretable range CS1>95% MAN2B2 95.00 0 NM_015274.2/ interpretable range CS1>95% MAP1LC3B2 95.00 0 NM_001085481.2/ interpretable range CS1>95% MAP3K14 95.00 0 NM_003954.4/ interpretable range CS1>95% MAPK8 95.00 0 NM_139049.3/ interpretable range CS1>95% MASP2 95.00 0 NM_006610.3/ interpretable range CS1>95% MBL2 95.00 0 NM_000242.2/ interpretable range CS1>95% MCM10 95.00 0 NM_182751.2/ interpretable range CS1>95% MCM4 95.00 0 NM_005914.3/ interpretable range CS1>95% MEFV 95.00 0 NM_000243.2/ interpretable range CS1>95% MOGS 95.00 0 NM_020831.4/ interpretable range CS1>95% MPO 95.00 0 NM_006302.2/ interpretable range CS1>95% MRTFA 95.00 0 NM_000250.1/ interpretable range CS1>95% MS4A1 95.00 0 NM_152866.2/ interpretable range CS1>95% MSN 95.00 0 NM_002444.2/ interpretable range CS1>95% MTHFD1 95.00 0 NM_005956.3/ interpretable range CS1>95% MVK 95.00 0 NM_000431.3/ interpretable range CS1>95% MYD88 95.00 0 NM_002468.4/ interpretable range CS1>95% MYO5B 95.00 0 NM_001080467.2/ interpretable range CS1>95% MYSM1 95.00 0 NM_001085487.2/ interpretable range CS1>95% NBAS 95.00 0 NM_015909.3/ interpretable range CS1>95% NCF1 95.00 0 NM_000265.5/ interpretable range CS1>95% NCF2 95.00 0 NM_000433.3/ interpretable range CS1>95% NCF4 95.00 0 NM_013416.3/ interpretable range CS1>95% NCKAP1 95.00 0 NM_205842.2/ interpretable range CS1>95% NCKAP1L 95.00 0 NM_005337.4/ interpretable range CS1>95% NCSTN 95.00 0 NM_015331.2/ interpretable range CS1>95% NFAT5 95.00 0 NM_138714.3/ interpretable range CS1>95% NFE2L2 95.00 0 NM_006164.4/ interpretable range CS1>95% NFKB1 95.00 0 NM_003998.3/ interpretable range CS1>95% NFKB2 95.00 0 NM_001077494.3/ interpretable range CS1>95% NFKBIA 95.00 0 NM_020529.2/ interpretable range CS1>95% NHEJ1 95.00 0 NM_024782.2/ interpretable range CS1>95% NHP2 95.00 0 NM_017838.3/ interpretable range CS1>95% NLRC4 95.00 0 NM_021209.4/ interpretable range CS1>95% NLRP1 95.00 0 NM_033004.3/ interpretable range CS1>95% NLRP12 95.00 0 NM_144687.3/ interpretable range CS1>95% NLRP3 95.00 0 NM_004895.4/ interpretable range CS1>95% NOD2 95.00 0 NM_022162.2/ interpretable range CS1>95% NOP10 95.00 0 NM_018648.3/ interpretable range CS1>95% NOS2 95.00 0 NM_000625.4/ interpretable range CS1>95% NRAS 95.00 0 NM_002524.4/ interpretable range CS1>95% NSMCE3 95.00 0 NM_138704.3/ interpretable range CS1>95% OAS1 95.00 0 NM_032790.3/ interpretable range CS1>95% ORAI1 95.00 0 NM_014028.3/ interpretable range CS1>95% OSTM1 95.00 0 NM_138348.5/ interpretable range CS1>95% OTULIN 95.00 0 NM_002582.3/ interpretable range CS1>95% PARN 95.00 0 NM_006192.4/ interpretable range CS1>95% PAX1 95.00 0 NM_005018.2/ interpretable range CS1>95% PDCD1 95.00 0 NM_000285.3/ interpretable range CS1>95% PEPD 95.00 0 NM_001199917.1/ interpretable range CS1>95% PGM3 95.00 0 NM_058004.3/ interpretable range CS1>95% PI4KA 95.00 0 NM_005026.4/ interpretable range CS1>95% PIK3CD 95.00 0 NM_002649.3/ interpretable range CS1>95% PIK3CG 95.00 0 NM_181523.2/ interpretable range CS1>95% PIK3R1 95.00 0 NM_002661.4/ interpretable range CS1>95% PLCG2 95.00 0 NM_014798.2/ interpretable range CS1>95% PLEKHM1 95.00 0 NM_000535.6/ interpretable range CS1>95% PMS2 95.00 0 NM_016937.3/ interpretable range CS1>95% PNP 95.00 0 NM_002691.3/ interpretable range CS1>95% POLA1 95.00 0 NM_006230.3/ interpretable range CS1>95% POLD1 95.00 0 NM_006231.3/ interpretable range CS1>95% POLD2 95.00 0 NM_002692.3/ interpretable range CS1>95% POLE 95.00 0 NM_007055.3/ interpretable range CS1>95% POLE2 95.00 0 NM_001303456.1/ interpretable range CS1>95% POLR3A 95.00 0 NM_001282526.1/ interpretable range CS1>95% POLR3C 95.00 0 NM_015932.5/ interpretable range CS1>95% POLR3E 95.00 0 NM_006235.2/ interpretable range CS1>95% POLR3F 95.00 0 NM_001083116.2/ interpretable range CS1>95% POMP 95.00 0 NM_015932.6/ interpretable range CS1>95% POU2AF1 95.00 0 NM_006254.3/ interpretable range CS1>95% PRF1 95.00 0 NM_006904.6/ interpretable range CS1>95% PRKCD 95.00 0 NM_172341.3/ interpretable range CS1>95% PRKDC 95.00 0 NM_002788.3/ interpretable range CS1>95% PSENEN 95.00 0 NM_002801.3/ interpretable range CS1>95% PSMA3 95.00 0 NM_002796.2/ interpretable range CS1>95% PSMB10 95.00 0 NM_148919.3/ interpretable range CS1>95% PSMB4 95.00 0 NM_002800.4/ interpretable range CS1>95% PSMB8 95.00 0 NM_147163.1/ interpretable range CS1>95% PSMB9 95.00 0 NM_003978.4/ interpretable range CS1>95% PSMG2 95.00 0 NM_000314.6/ interpretable range CS1>95% PSTPIP1 95.00 0 NM_002828.3/ interpretable range CS1>95% PTEN 95.00 0 NM_002838.4/ interpretable range CS1>95% PTPN2 95.00 0 NM_004580.4/ interpretable range CS1>95% PTPRC 95.00 0 NM_002872.4/ interpretable range CS1>95% RAB27A 95.00 0 NM_000448.2/ interpretable range CS1>95% RAC2 95.00 0 NM_000536.3/ interpretable range CS1>95% RAG1 95.00 0 NM_006267.4/ interpretable range CS1>95% RAG2 95.00 0 NM_005739.3/ interpretable range CS1>95% RANBP2 95.00 0 NM_031229.3/ interpretable range CS1>95% RASGRP1 95.00 0 NM_172071.3/ interpretable range CS1>95% RBCK1 95.00 0 NM_004260.3/ interpretable range CS1>95% RC3H1 95.00 0 NM_002908.3/ interpretable range CS1>95% RECQL4 95.00 0 NM_021975.3/ interpretable range CS1>95% REL 95.00 0 NM_006509.3/ interpretable range CS1>95% RELA 95.00 0 NM_000449.3/ interpretable range CS1>95% RELB 95.00 0 NM_003721.3/ interpretable range CS1>95% RFX5 95.00 0 NM_000538.3/ interpretable range CS1>95% RFXANK 95.00 0 NM_001665.3/ interpretable range CS1>95% RFXAP 95.00 0 NM_004310.4/ interpretable range CS1>95% RHOG 95.00 0 NM_003804.5/ interpretable range CS1>95% RHOH 95.00 0 NM_006397.2/ interpretable range CS1>95% RIGI 95.00 0 NM_014314.4/ interpretable range CS1>95% RIPK1 95.00 0 NM_024570.3/ interpretable range CS1>95% RNASEH2A 95.00 0 NM_032193.3/ interpretable range CS1>95% RNASEH2B 95.00 0 NM_152617.3/ interpretable range CS1>95% RNASEH2C 95.00 0 NM_017999.4/ interpretable range CS1>95% RNF168 95.00 0 NM_005060.3/ interpretable range CS1>95% RNF31 95.00 0 NM_002945.4/ interpretable range CS1>95% RORC 95.00 0 NM_002295.5/ interpretable range CS1>95% RPA1 95.00 0 NM_002945.5/ interpretable range CS1>95% RPSA 95.00 0 NM_032957.4/ interpretable range CS1>95% RTEL1 95.00 0 NM_017654.3/ interpretable range CS1>95% SAMD9 95.00 0 NM_152703.4/ interpretable range CS1>95% SAMD9L 95.00 0 NM_015474.3/ interpretable range CS1>95% SAMHD1 95.00 0 NM_018990.3/ interpretable range CS1>95% SASH3 95.00 0 NM_016038.3/ interpretable range CS1>95% SBDS 95.00 0 NM_013336.3/ interpretable range CS1>95% SEC61A1 95.00 0 NM_006378.3/ interpretable range CS1>95% SEMA4D 95.00 0 NM_000062.2/ interpretable range CS1>95% SERPING1 95.00 1 NM_002351.4/ interpretable range CS1>95% SH2D1A 95.00 0 NM_031892.2/ interpretable range CS1>95% SH3KBP1 95.00 0 NM_006929.4/ interpretable range CS1>95% SKIC2 95.00 0 NM_006929.5/ interpretable range CS1>95% SKIC3 95.00 0 NM_014639.4/ interpretable range CS1>95% SLC11A1 95.00 0 NM_018344.5/ interpretable range CS1>95% SLC29A3 95.00 0 NM_018389.4/ interpretable range CS1>95% SLC35C1 95.00 0 NM_001164277.1/ interpretable range CS1>95% SLC37A4 95.00 0 NM_006979.2/ interpretable range CS1>95% SLC39A7 95.00 0 NM_080669.5/ interpretable range CS1>95% SLC46A1 95.00 0 NM_001126106.2/ interpretable range CS1>95% SLC7A7 95.00 0 NM_014140.3/ interpretable range CS1>95% SMARCAL1 95.00 0 NM_001098426.1/ interpretable range CS1>95% SMARCD2 95.00 0 NR_002967.1/ interpretable range CS1>95% SNORA31 95.00 0 NM_001199835.1/ interpretable range CS1>95% SNX10 95.00 0 NM_003745.1/ interpretable range CS1>95% SOCS1 95.00 0 NM_004509.3/ interpretable range CS1>95% SP110 95.00 0 NM_004509.5/ interpretable range CS1>95% SPI1 95.00 0 NM_001080547.1/ interpretable range CS1>95% SPINK5 95.00 0 NM_006846.3/ interpretable range CS1>95% SPPL2A 95.00 0 NM_032802.3/ interpretable range CS1>95% SRP54 95.00 0 NM_003136.3/ interpretable range CS1>95% STAT1 95.00 0 NM_007315.3/ interpretable range CS1>95% STAT2 95.00 0 NM_005419.3/ interpretable range CS1>95% STAT3 95.00 0 NM_139276.2/ interpretable range CS1>95% STAT4 95.00 0 NM_003151.3/ interpretable range CS1>95% STAT5B 95.00 0 NM_012448.3/ interpretable range CS1>95% STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95% STING1 95.00 0 NM_006282.4/ interpretable range CS1>95% STK4 95.00 0 NM_024928.4/ interpretable range CS1>95% STN1 95.00 0 NM_003764.3/ interpretable range CS1>95% STX11 95.00 0 NM_006949.3/ interpretable range CS1>95% STXBP2 95.00 0 NM_007269.3/ interpretable range CS1>95% STXBP3 95.00 0 NM_003177.6/ interpretable range CS1>95% SYK 95.00 0 NM_000593.5/ interpretable range CS1>95% TAFAZZIN 95.00 0 NM_000116.5/ interpretable range CS1>95% TAP1 95.00 0 NM_001290043.1/ interpretable range CS1>95% TAP2 95.00 0 NM_003190.4/ interpretable range CS1>95% TAPBP 95.00 0 NM_000116.4/ interpretable range CS1>95% TBK1 95.00 0 NM_013254.3/ interpretable range CS1>95% TBX1 95.00 0 NM_080647.1/ interpretable range CS1>95% TBX21 95.00 0 NM_013351.1/ interpretable range CS1>95% TCF3 95.00 0 NM_003200.4/ interpretable range CS1>95% TCIRG1 95.00 0 NM_006019.3/ interpretable range CS1>95% TCN2 95.00 0 NM_000355.3/ interpretable range CS1>95% TERT 95.00 0 NM_198253.2/ interpretable range CS1>95% TET2 95.00 0 NM_001127208.2/ interpretable range CS1>95% TFRC 95.00 0 NM_003234.3/ interpretable range CS1>95% TGFB1 95.00 0 NM_000660.6/ interpretable range CS1>95% TGFBR1 95.00 0 NM_004612.3/ interpretable range CS1>95% TGFBR2 95.00 0 NM_003242.5/ interpretable range CS1>95% THBD 95.00 0 NM_000361.2/ interpretable range CS1>95% TICAM1 95.00 0 NM_182919.3/ interpretable range CS1>95% TINF2 95.00 0 NM_001099274.1/ interpretable range CS1>95% TLR3 95.00 0 NM_003265.2/ interpretable range CS1>95% TLR7 95.00 0 NM_016562.3/ interpretable range CS1>95% TLR8 95.00 0 NM_138636.5/ interpretable range CS1>95% TMC6 95.00 0 NM_007267.7/ interpretable range CS1>95% TMC8 95.00 0 NM_152468.4/ interpretable range CS1>95% TNFAIP3 95.00 0 NM_198282.3/ interpretable range CS1>95% TNFRSF11A 95.00 0 NM_006290.3/ interpretable range CS1>95% TNFRSF13B 95.00 0 NM_003839.3/ interpretable range CS1>95% TNFRSF13C 95.00 0 NM_012452.2/ interpretable range CS1>95% TNFRSF1A 95.00 0 NM_052945.3/ interpretable range CS1>95% TNFRSF4 95.00 0 NM_001065.3/ interpretable range CS1>95% TNFRSF9 95.00 0 NM_003327.3/ interpretable range CS1>95% TNFSF11 95.00 0 NM_001561.5/ interpretable range CS1>95% TNFSF12 95.00 0 NM_003701.3/ interpretable range CS1>95% TNFSF13 95.00 0 NM_003809.2/ interpretable range CS1>95% TOP2B 95.00 0 NM_003808.3/ interpretable range CS1>95% TPP2 95.00 0 NM_001068.3/ interpretable range CS1>95% TRAF3 95.00 0 NM_003291.3/ interpretable range CS1>95% TRAF3IP2 95.00 0 NM_003300.3/ interpretable range CS1>95% TREX1 95.00 0 NM_147686.3/ interpretable range CS1>95% TRIM22 95.00 0 NM_033629.5/ interpretable range CS1>95% TRNT1 95.00 0 NM_006074.4/ interpretable range CS1>95% TTC7A 95.00 0 NM_014639.3/ interpretable range CS1>95% TYK2 95.00 0 NM_020458.3/ interpretable range CS1>95% UBA1 95.00 0 NM_003331.4/ interpretable range CS1>95% UNC13D 95.00 0 NM_003334.3/ interpretable range CS1>95% UNC93B1 95.00 0 NM_199242.2/ interpretable range CS1>95% UNG 95.00 0 NM_030930.3/ interpretable range CS1>95% USB1 95.00 0 NM_080911.2/ interpretable range CS1>95% USP18 95.00 0 NM_024598.3/ interpretable range CS1>95% VPS13B 95.00 0 NM_017414.3/ interpretable range CS1>95% VPS45 95.00 0 NM_017890.4/ interpretable range CS1>95% WAS 95.00 0 NM_007259.5/ interpretable range CS1>95% WDR1 95.00 0 NM_000377.2/ interpretable range CS1>95% WIPF1 95.00 0 NM_017491.4/ interpretable range CS1>95% WRAP53 95.00 0 NM_001077269.1/ interpretable range CS1>95% XIAP 95.00 1 NM_001167.3/ interpretable range CS1>95% ZAP70 95.00 0 NM_001079.3/ interpretable range CS1>95% ZBTB24 95.00 0 NM_014797.2/ interpretable range CS1>95% ZNF341 95.00 0 NM_032819.4/ interpretable range CS1>95% ZNFX1 95.00 0 NM_021035.2/ interpretable range CS1>95% -
Primary immune deficiencies - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACD 100.00 1 ACP5 100.00 1 ACTB 100.00 1 ADA 99.97 1 ADA2 100.00 1 ADAM17 99.94 1 ADAR 99.84 1 AICDA 99.94 1 AIRE 99.95 1 AK2 99.39 1 ALPI 100.00 1 AP1S3 100.00 1 AP3B1 99.89 1 AP3D1 100.00 1 APOL1 99.99 1 ARHGEF1 99.97 1 ARPC1B 99.92 1 ATG16L1 99.95 1 ATG4A 99.86 1 ATM 99.83 1 ATP2A2 99.98 1 ATP6AP1 100.00 1 B2M 100.00 1 BACH2 99.99 1 BCL10 99.74 1 BCL11B 100.00 1 BLK 99.98 1 BLM 99.80 1 BLNK 99.90 1 BLOC1S3 100.00 1 BLOC1S6 99.98 1 BTK 99.88 1 C1QA 99.99 1 C1QB 99.58 1 C1QC 99.97 1 C1R 99.99 1 C1S 99.98 1 C2 99.99 1 C2orf69 99.97 1 C3 100.00 1 C4A 21.28 1 C4BPA 99.95 1 C5 99.92 1 C6 99.97 1 C7 99.94 1 C8A 99.95 1 C8B 99.37 1 C8G 99.99 1 C9 99.89 1 CARD11 99.97 1 CARD14 99.99 1 CARD9 100.00 1 CARMIL2 99.99 1 CASP10 99.85 1 CASP8 99.92 1 CBL 99.95 1 CCBE1 99.52 1 CCDC28B 99.99 1 CD19 99.98 1 CD247 99.79 1 CD27 99.95 1 CD3D 100.00 1 CD3E 100.00 1 CD3G 100.00 1 CD4 100.00 1 CD40 100.00 1 CD40LG 99.88 1 CD46 99.86 1 CD55 74.12 1 CD59 100.00 1 CD70 99.99 1 CD79A 99.97 1 CD79B 99.93 1 CD81 99.97 1 CD8A 99.97 1 CDC42 98.05 1 CDCA7 99.88 1 CEBPE 100.00 1 CFB 99.97 1 CFD 99.99 1 CFH 99.12 1 CFHR1 84.44 1 CFHR2 90.26 1 CFHR3 91.62 1 CFHR4 99.86 1 CFHR5 99.68 1 CFI 99.87 1 CFP 99.96 1 CFTR 99.45 1 CHD7 99.99 1 CIB1 99.92 1 CIITA 99.99 1 CLCN7 99.99 1 CLEC7A 99.98 1 CLPB 99.97 1 COL7A1 99.99 1 COPA 99.61 1 CORO1A 91.71 1 CPT2 99.65 1 CR2 99.97 1 CREBBP 99.97 1 CSF2RA 93.86 1 CSF2RB 100.00 1 CSF3R 99.97 1 CTC1 100.00 1 CTLA4 99.99 1 CTNNBL1 100.00 1 CTPS1 98.63 1 CTSC 99.97 1 CXCR4 99.98 1 CYBA 99.96 1 CYBB 99.87 1 CYBC1 100.00 1 DBR1 99.92 1 DCLRE1B 99.91 1 DCLRE1C 99.79 1 RIGI 99.84 1 DEF6 100.00 1 DGKE 99.10 1 DHFR 98.89 1 DKC1 99.59 1 DNAJC21 99.67 1 DNASE1 100.00 1 DNASE1L3 99.90 1 DNASE2 100.00 1 DNMT3B 99.98 1 DOCK2 100.00 1 DOCK8 99.86 1 DOK3 99.95 1 DTNBP1 99.89 1 EFL1 99.83 1 ELANE 100.00 1 ELF4 99.97 1 EPG5 99.95 1 ERBIN 99.69 1 ERCC6L2 99.94 1 EXTL3 99.99 1 F12 99.99 1 FAAP24 99.95 1 FADD 99.97 1 FAS 99.99 1 FASLG 99.84 1 FAT4 99.98 1 FCGR2B 70.97 1 FCGR3A 99.93 1 FCGR3B 95.51 1 FCHO1 99.99 1 FCN3 99.48 1 FERMT1 99.90 1 FERMT3 99.99 1 FNIP1 99.87 1 FOXN1 99.97 1 FOXP3 99.93 1 FPR1 100.00 1 G6PC3 99.98 1 G6PD 99.97 1 GATA1 99.97 1 GATA2 99.99 1 GFI1 99.88 1 GIMAP5 100.00 1 GINS1 99.99 1 GUCY2C 99.90 1 HAVCR2 99.93 1 HAX1 100.00 1 HELLS 99.78 1 HMOX1 99.95 1 HPS1 100.00 1 HPS4 99.98 1 HPS6 100.00 1 HTRA2 99.99 1 HYOU1 99.97 1 ICOS 99.95 1 ICOSLG 5.95 1 IFIH1 99.84 1 IFNAR1 99.75 1 IFNAR2 89.62 1 IFNG 99.50 1 IFNGR1 99.87 1 IFNGR2 99.95 1 IGHM 100.00 1 IGKC 99.99 1 IGLL1 100.00 1 IKBKB 99.93 1 IKBKG 57.34 1 IKZF1 99.92 1 IL10 100.00 1 IL10RA 99.99 1 IL10RB 99.99 1 IL12B 99.98 1 IL12RB1 94.11 1 IL12RB2 97.66 1 IL15RA 99.96 1 IL17F 99.99 1 IL17RA 100.00 1 IL17RC 100.00 1 IL18 99.85 1 IL18BP 99.99 1 IL1RL1 99.76 1 IL1RN 99.64 1 IL21 99.95 1 IL21R 99.70 1 IL23R 97.64 1 IL2RA 99.99 1 IL2RB 100.00 1 IL2RG 99.86 1 IL36RN 100.00 1 IL6R 92.46 1 IL6ST 99.88 1 IL7R 99.99 1 ILRUN 100.00 1 INO80 99.96 1 IRAK1 99.98 1 IRAK4 98.85 1 IRF2BP2 100.00 1 IRF3 99.96 1 IRF4 99.99 1 IRF7 100.00 1 IRF8 99.99 1 IRF9 100.00 1 ISG15 100.00 1 ITCH 95.57 1 ITGB2 100.00 1 ITK 99.91 1 ITPKB 99.99 1 IVNS1ABP 99.24 1 JAGN1 100.00 1 JAK1 99.32 1 JAK3 99.99 1 KDM6A 99.74 1 KMT2A 99.97 1 KMT2D 99.98 1 KRAS 99.13 1 LACC1 99.99 1 LAMTOR2 99.92 1 LAT 99.85 1 LCK 99.56 1 LCP2 99.58 1 LIG1 99.93 1 LIG4 100.00 1 LIPA 99.96 1 LPIN2 100.00 1 LRBA 99.76 1 LRRC8A 100.00 1 LSM11 100.00 1 LYST 99.87 1 MAGT1 99.54 1 MALT1 99.71 1 MAN2B1 99.99 1 MAP1LC3B2 100.00 1 MAP3K14 99.98 1 MAPK8 99.64 1 MASP1 99.99 1 MASP2 99.95 1 MBL2 99.93 1 MCM10 99.99 1 MCM4 99.96 1 MEFV 100.00 1 MOGS 100.00 1 MPEG1 100.00 1 MPO 99.97 1 MRE11 99.93 1 MRTFA 92.99 1 MS4A1 99.60 1 MSH6 99.97 1 MSN 99.98 1 MTHFD1 100.00 1 MVK 99.97 1 MYD88 99.99 1 MYO5B 100.00 1 MYSM1 94.16 1 NBAS 99.86 1 NBN 99.93 1 NCF1 57.22 1 NCF2 99.85 1 NCF4 100.00 1 NCKAP1L 99.77 1 NCSTN 99.82 1 NFAT5 99.93 1 NFE2L2 99.97 1 NFKB1 99.80 1 NFKB2 99.98 1 NFKBIA 99.99 1 NHEJ1 99.91 1 NHP2 99.96 1 NKX2-5 99.75 1 NLRC4 99.95 1 NLRP1 95.26 1 NLRP12 99.99 1 NLRP3 100.00 1 NLRP7 99.99 1 NOD2 99.98 1 NOP10 99.99 1 NOS2 96.11 1 NPC1 99.99 1 NRAS 99.66 1 NSMCE3 100.00 1 OAS1 99.96 1 ORAI1 99.63 1 OSTM1 99.56 1 OTULIN 99.95 1 PARN 99.75 1 PAX1 100.00 1 PCCA 99.90 1 PCCB 99.97 1 PEPD 99.98 1 PGM3 99.94 1 PIK3CD 99.99 1 PIK3CG 99.72 1 PIK3R1 99.86 1 PLCG2 99.99 1 PLEKHM1 99.77 1 PLG 99.89 1 PMS2 70.47 1 PNP 100.00 1 POLA1 99.57 1 POLD1 99.96 1 POLD2 99.95 1 POLE 99.99 1 POLE2 99.87 1 POLR3A 99.97 1 POLR3C 99.89 1 POLR3F 99.97 1 NT5C3A 99.95 1 PRF1 100.00 1 PRIM1 99.07 1 PRKCD 99.96 1 PRKDC 99.93 1 PSEN1 100.00 1 PSENEN 100.00 1 PSMA3 99.96 1 PSMB10 99.98 1 PSMB4 99.83 1 PSMB8 99.96 1 PSMB9 99.68 1 PSMG2 99.98 1 PSTPIP1 99.91 1 PSTPIP2 99.98 1 PTEN 99.89 1 PTPN11 99.98 1 PTPN2 99.98 1 PTPN6 100.00 1 PTPRC 93.90 1 RAB27A 99.94 1 RAC2 99.99 1 RAG1 100.00 1 RAG2 100.00 1 RANBP2 99.37 1 RASGRP1 100.00 1 RBCK1 100.00 1 RC3H1 99.22 1 RECQL4 100.00 1 REL 96.99 1 RELA 99.99 1 RELB 99.97 1 RFX5 99.88 1 RFXANK 100.00 1 RFXAP 99.98 1 RHOH 99.99 1 RIPK1 99.93 1 RMRP 100.00 1 RNASEH2A 99.95 1 RNASEH2B 99.94 1 RNASEH2C 99.99 1 RNF168 99.97 1 RNF31 100.00 1 RORC 99.42 1 RPSA 0.00 1 RTEL1 100.00 1 SAMD9 99.93 1 SAMD9L 99.95 1 SAMHD1 99.98 1 SASH3 99.99 1 SBDS 99.93 1 SDHA 99.98 1 SEC61A1 99.99 1 SEMA3E 99.13 1 SERPING1 100.00 1 SGPL1 99.95 1 SH2D1A 98.98 1 SH3BP2 100.00 1 SH3KBP1 99.95 1 SKIC2 99.98 1 SLC11A1 99.99 1 SLC29A3 99.98 1 SLC35C1 100.00 1 SLC37A4 99.90 1 SLC39A7 100.00 1 SLC46A1 100.00 1 SLC7A7 99.99 1 SLC9A3 100.00 1 SMARCAL1 99.97 1 SMARCD2 99.99 1 SNX10 99.96 1 SOCS1 99.98 1 SOCS4 99.92 1 PMP22 99.99 1 SPI1 99.81 1 SPINK5 99.91 1 SPPL2A 99.88 1 SRP54 99.83 1 SRP72 99.91 1 STAT1 99.83 1 STAT2 99.89 1 STAT3 99.97 1 STAT4 99.77 1 STAT5B 99.50 1 STAT6 99.87 1 STIM1 99.99 1 STING1 99.87 1 STK4 99.91 1 STN1 99.88 1 STX11 100.00 1 STXBP2 100.00 1 STXBP3 85.74 1 SYK 99.96 1 TAFAZZIN 99.98 1 TAP1 99.97 1 TAP2 99.94 1 TAPBP 99.98 1 TBK1 99.07 1 TBX1 99.95 1 TBX21 99.99 1 TCF3 100.00 1 TCIRG1 99.99 1 TCN2 100.00 1 TERC 98.59 1 TERT 100.00 1 TET2 99.99 1 TFRC 99.87 1 TGFB1 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 THBD 100.00 1 TICAM1 99.99 1 TINF2 100.00 1 TIRAP 100.00 1 TLR3 99.99 1 TLR4 99.99 1 TLR7 99.98 1 TMC6 100.00 1 TMC8 99.92 1 TNFAIP3 99.94 1 TNFRSF11A 100.00 1 TNFRSF13B 99.43 1 TNFRSF13C 99.99 1 TNFRSF1A 100.00 1 TNFRSF4 100.00 1 TNFRSF9 99.99 1 TNFSF11 99.89 1 TNFSF12 100.00 1 TNFSF13 100.00 1 TOP2B 99.72 1 TPP2 99.89 1 TRAC 100.00 1 TRAF3 99.97 1 TRAF3IP2 100.00 1 TREX1 100.00 1 TRIM22 100.00 1 TRNT1 99.97 1 SKIC3 99.82 1 TTC7A 99.77 1 TYK2 99.99 1 UBA1 99.93 1 UNC119 100.00 1 UNC13D 100.00 1 UNC93B1 99.75 1 UNG 100.00 1 USB1 89.62 1 USP18 93.05 1 VAV1 99.99 1 VPS13B 99.90 1 VPS45 93.94 1 WAS 99.90 1 WDR1 99.99 1 WIPF1 99.87 1 WRAP53 100.00 1 XBP1 99.99 1 XIAP 99.36 1 ZAP70 99.95 1 ZBTB24 99.99 1 ZNF341 100.00 1 ZNFX1 99.99 1