- Analytes
- SCN3B
SCN3B
Name: |
sodium voltage-gated channel beta subunit 3
|
Symbol: |
SCN3B
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
HSA243396
SCNB3
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
- Cardiopathies, hereditary (gene panel)
- Early onset epileptic encephalopathy (gene panel - 845 genes)
- Epilepsy gene panel
- Heart / Cardio disorders / Cardiopathy (gene panel)
- Primary Electrical disorders / Brugada syndrome / Long QT syndrome (LQT) / Short QT syndrome (SQT) / Arrhythmogenic right ventricular cardiomyopathy (ARVC) / Catecholaminergic polymorphic ventricular tachycardia (CPVT) (gene panel)
- Primary cardiac arrhythmias (Atrial fibrillation / Brugada syndome / Catech. polymorphic ventricular tachycardia / Early repolaristion syndrome / Ideopathic ventricular fibrillation / Long QT syndrome / Sick sinus syndrome / Short QT syndrome) (gene pane)
-
Brugada syndrome (16 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments SCN5A GPD1L CACNA1C CACNB2 KCNE3 SCN3B HCN4 CACNA2D1 KCND3 KCNE5 KCNJ8 RANGRF SLMAP TRPM4 SCN2B SCN1B -
Cardiopathies, hereditary (102 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 95.00 0 NM_005691.4 / interpretable range CS1>95% ACTC1 95.00 0 NM_005159.5 / interpretable range CS1>95% ACTN2 95.00 0 NM_001103.4 / nterpretable range CS1>95% AKAP9 95.00 0 NM_005751.5 /interpretable range CS1>95% ANK2 95.00 0 NM_001148.6 / interpretable range CS1>95% ANKRD1 95.00 0 NM_014391.3 / interpretable range CS1>95% BAG3 95.00 0 NM_004281.4 / interpretable range CS1>95% CACNA1C 95.00 0 NM_000719.7 / interpretable range CS1>95% CACNA1D 95.00 0 NM_000720.4 / interpretable range CS1>95% CACNA2D1 95.00 0 NM_000722.4 / interpretable range CS1>95% CACNB2 95.00 0 NM_201590.3 / interpretable range CS1>95% CALM1 95.00 0 NM_006888.6 / interpretable range CS1>95% CALM2 95.00 0 NM_001743.6 / interpretable range CS1>95% CALM3 95.00 0 NM_005184.4 / interpretable range CS1>95% CALR3 95.00 0 NM_145046.5 / interpretable range CS1>95% CASQ2 95.00 0 NM_001232.4 / interpretable range CS1>95% CAV3 95.00 0 NM_033337.3 / interpretable range CS1>95% CDH2 95.00 0 NM_001792.5 / interpretable range CS1>95% CRYAB 95.00 0 NM_001885.3 / interpretable range CS1>95% CSRP3 95.00 0 NM_003476.5 / interpretable range CS1>95% CTNNA3 95.00 0 NM_013266.4 / interpretable range CS1>95% DES 95.00 0 NM_001927.4 / interpretable range CS1>95% DSC3 95.00 0 NM_024422.6 / interpretable range CS1>95% DSG2 95.00 0 NM_001943.5 / interpretable range CS1>95% DSP 95.00 0 NM_004415.4 / interpretable range CS1>95% DTNA 95.00 0 NM_001390.4 / interpretable range CS1>95% CFH 95.00 0 NM_001449.5 / interpretable range CS1>95% FHOD3 95.00 0 NM_025135.5 / interpretable range CS1>95% FKTN 95.00 0 NM_001079802.2 / interpretable range CS1>95% FLNC 95.00 0 NM_001458.5 / interpretable range CS1>95% GJA5 95.00 0 NM_005266.7 / interpretable range CS1>95% GLA 95.00 0 NM_000169.3 / interpretable range CS1>95% GPD1L 95.00 0 NM_015141.4 / interpretable range CS1>95% HCN4 95.00 0 NM_005477.3 / interpretable range CS1>95% JPH2 95.00 0 NM_020433.5 / interpretable range CS1>95% JUP 95.00 0 NM_002230.4 / interpretable range CS1>95% KCNA5 95.00 0 NM_002234.4 / interpretable range CS1>95% KCND2 95.00 0 NM_012281.3 / interpretable range CS1>95% KCND3 95.00 0 NM_004980.5 / interpretable range CS1>95% KCNE1 95.00 0 NM_000219.6 / interpretable range CS1>95% KCNE2 95.00 0 NM_172201.2 / interpretable range CS1>95% KCNE3 95.00 0 NM_005472.5 / interpretable range CS1>95% KCNE5 95.00 0 NM_012282.4 / interpretable range CS1>95% KCNH2 95.00 0 NM_000238.4 / interpretable range CS1>95% KCNJ2 95.00 0 NM_000891.3 / interpretable range CS1>95% KCNJ5 95.00 0 NM_000890.5 / interpretable range CS1>95% KCNJ8 95.00 0 NM_004982.4 / interpretable range CS1>95% KCNQ1 95.00 0 NM_000218.3 / interpretable range CS1>95% LAMA4 95.00 0 NM_002290.5 / interpretable range CS1>95% LAMP2 95.00 0 NM_002294.3 / interpretable range CS1>95% LDB3 95.00 0 NM_001080116.1 / interpretable range CS1>95% LMNA 95.00 0 NM_170707.4 / interpretable range CS1>95% MIB1 95.00 0 NM_020774.4 / interpretable range CS1>95% MYBPC3 95.00 0 NM_000256.3 / interpretable range CS1>95% / MLPA only in de frame of "Familial hypertrophic cardiomyopathy" MYH6 95.00 0 NM_002471.4 / interpretable range CS1>95% MYH7 95.00 0 NM_000257.4 / interpretable range CS1>95% MYL2 95.00 0 NM_000432.4 / interpretable range CS1>95% MYL3 95.00 0 NM_000258.3 / interpretable range CS1>95% MYLK2 95.00 0 NM_033118.4 / interpretable range CS1>95% MYOZ2 95.00 0 NM_016599.5 / interpretable range CS1>95% MYPN 95.00 0 NM_032578.4 / interpretable range CS1>95% NEXN 95.00 0 NM_144573.4 / interpretable range CS1>95% NKX2-5 95.00 0 NM_004387.4 / interpretable range CS1>95% NOS1AP 95.00 0 NM_014697.3 / interpretable range CS1>95% NPPA 95.00 0 NM_006172.4 / interpretable range CS1>95% NUP155 95.00 0 NM_153485.3 / interpretable range CS1>95% PITX2 95.00 0 NM_153427.2 / interpretable range CS1>95% PKP2 95.00 0 NM_004572.4 / interpretable range CS1>95% PLN 95.00 0 NM_002667.5 / interpretable range CS1>95% PRKAG2 95.00 0 NM_016203.4 / interpretable range CS1>95% RBM20 95.00 0 NM_001134363.3 / interpretable range CS1>95% RYR2 95.00 0 NM_001035.3 / interpretable range CS1>95% SLC4A3 95.00 0 NM_201574.2 / interpretable range CS1>95% SCN10A 95.00 0 NM_006514.4 / interpretable range CS1>95% SCN1B 95.00 0 NM_001037.5 / interpretable range CS1>95% SCN2B 95.00 0 NM_004588.5 / interpretable range CS1>95% SCN3B 95.00 0 NM_018400.4 / interpretable range CS1>95% SCN4B 95.00 0 NM_174934.4 / interpretable range CS1>95% SCN5A 95.00 0 NM_198056.3 / interpretable range CS1>95% SEMA3A 95.00 0 NM_006080.3 / interpretable range CS1>95% SGCD 95.00 0 NM_000337.6 / interpretable range CS1>95% SNTA1 95.00 0 NM_003098.3 / interpretable range CS1>95% WWTR1 95.00 0 NM_000116.5 / interpretable range CS1>95% TBX20 95.00 0 NM_001077653.2 / interpretable range CS1>95% TCAP 95.00 0 NM_003673.4 / interpretable range CS1>95% TECRL 95.00 0 NM_001010874.5 / interpretable range CS1>95% TGFB3 95.00 0 NM_003239.5 / interpretable range CS1>95% TJP1 95.00 0 NM_003257.5 / interpretable range CS1>95% TMEM43 95.00 0 NM_024334.3 / interpretable range CS1>95% TMPO 95.00 0 NM_003276.2 / interpretable range CS1>95% TNNI3 95.00 0 NM_000363.5 / interpretable range CS1>95% TNNI3K 95.00 0 NM_015978.3 / interpretable range CS1>95% TNNT2 95.00 0 NM_001001430.3 / interpretable range CS1>95% TPM1 95.00 0 NM_001018005.2 / interpretable range CS1>95% TRDN 95.00 0 NM_006073.4 / interpretable range CS1>95% TRIM63 95.00 0 NM_032588.4 / interpretable range CS1>95% TRPM4 95.00 0 NM_017636.4 / interpretable range CS1>95% TTN 95.00 0 NM_001267550.1 / interpretable range CS1>95% TTR 95.00 0 NM_000371.4 / interpretable range CS1>95% TXNRD2 95.00 0 NM_006440.5 / interpretable range CS1>95% VCL 95.00 0 NM_014000.3 / interpretable range CS1>95% -
Early onset epileptic encephalopathy (845 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment AARS1 100.00 0 No comment AARS2 99.75 0 No comment AASS 100.00 0 No comment ABAT 100.00 0 No comment ABCB1 100.00 0 No comment ABCC8 100.00 0 No comment ABCD1 97.56 0 No comment ACADM 99.87 0 No comment ACADS 97.51 0 No comment ACADSB 100.00 0 No comment ACO2 100.00 0 No comment ACOX1 100.00 0 No comment ACSF3 99.86 0 No comment ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ACVR1 100.00 0 No comment ACY1 100.00 0 No comment ADAR 100.00 0 No comment COQ8A 99.92 0 No comment ADK 100.00 0 No comment ADRA2B 100.00 0 No comment ADSL 100.00 0 No comment AFG3L2 94.80 0 No comment AGA 100.00 0 No comment AGTR2 100.00 0 No comment AHI1 100.00 0 No comment AIFM1 99.98 0 No comment AIMP1 99.97 0 No comment AKT2 100.00 0 No comment AKT3 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.94 0 No comment ALDH4A1 96.50 0 No comment ALDH5A1 84.13 0 No comment ALDH7A1 100.00 0 No comment ALG1 78.28 0 No comment ALG11 100.00 0 No comment ALG12 100.00 0 No comment ALG13 99.53 0 No comment ALG2 99.83 0 No comment ALG3 93.20 0 No comment ALG6 100.00 0 No comment ALG8 100.00 0 No comment ALG9 98.18 0 No comment ALMS1 99.85 0 No comment AMACR 96.78 0 No comment AMER1 99.97 0 No comment AMT 100.00 0 No comment ANKH 100.00 0 No comment ANKRD11 100.00 0 No comment AP3B2 98.68 0 No comment AP4E1 99.99 0 No comment APTX 99.96 0 No comment AR 100.00 0 No comment ARFGEF2 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF15 100.00 0 No comment ARHGEF9 99.92 0 No comment ARID1A 97.21 0 No comment ARID1B 98.17 0 No comment ARL13B 99.98 0 No comment ARSA 100.00 0 No comment SLURP1 87.81 0 No comment ARV1 100.00 0 No comment ARX 88.86 0 No comment ASAH1 100.00 0 No comment ASL 99.96 0 No comment ASNS 97.93 0 No comment ASPA 100.00 0 No comment ASPM 100.00 0 No comment ASS1 98.12 0 No comment ASXL1 99.93 0 No comment ATAD1 100.00 0 No comment ATIC 97.39 0 No comment ATN1 99.99 0 No comment ATP13A2 98.30 0 No comment ATP1A2 99.94 0 No comment ATP1A3 100.00 0 No comment ATP2A2 100.00 0 No comment ATP5F1A 99.63 0 No comment ATP6AP2 98.57 0 No comment ATP6V0A2 99.97 0 No comment ATP7A 100.00 0 No comment ATPAF2 100.00 0 No comment ANTXR1 99.97 0 No comment ATRX 99.89 0 No comment ATXN10 98.19 0 No comment ATXN2 93.25 0 No comment AUH 99.24 0 No comment AVPR2 99.37 0 No comment B3GALNT2 92.96 0 No comment B3GNT2 100.00 0 No comment B4GALT1 100.00 0 No comment BCAP31 99.81 0 No comment BCKDHA 99.90 0 No comment BCKDHB 100.00 0 No comment BCKDK 100.00 0 No comment BCS1L 100.00 0 No comment BOLA3 80.60 0 No comment BRAF 96.83 0 No comment BRAT1 99.93 0 No comment BRD2 94.60 0 No comment BSCL2 100.00 0 No comment BTD 100.00 0 No comment BUB1B 100.00 0 No comment TWNK 100.00 0 No comment C12ORF57 100.00 0 No comment MTRFR 100.00 0 No comment CPLANE1 100.00 0 No comment CACNA1A 99.53 0 No comment CACNA1D 99.81 0 No comment CACNA1G 99.97 0 No comment CACNA1H 98.10 0 No comment CACNA2D1 100.00 0 No comment CACNA2D2 95.58 0 No comment CACNB4 99.95 0 No comment CAD 100.00 0 No comment CARS2 98.73 0 No comment KNL1 97.89 0 No comment CASK 99.99 0 No comment CASQ2 99.96 0 No comment CASR 100.00 0 No comment CBL 100.00 0 No comment CBS 99.85 0 No comment CC2D2A 100.00 0 No comment CCBE1 99.32 0 No comment CCDC88C 99.64 0 No comment CCL2 100.00 0 No comment CCM2 99.47 0 No comment CDK5RAP2 100.00 0 No comment CDKL5 99.77 0 No comment CDON 100.00 0 No comment CELSR1 95.69 0 No comment CENPJ 100.00 0 No comment CEP135 99.96 0 No comment CEP152 100.00 0 No comment CEP164 99.89 0 No comment CEP290 100.00 0 No comment CEP41 100.00 0 No comment CEP63 100.00 0 No comment CERS1 87.45 0 No comment CHD2 100.00 0 No comment CHD8 100.00 0 No comment CHKB 99.75 0 No comment CHMP1A 100.00 0 No comment CHRNA2 99.99 0 No comment CHRNA4 94.66 0 No comment CHRNA7 97.02 0 No comment CHRNB2 99.44 0 No comment CIC 99.22 0 No comment CLCN1 100.00 0 No comment CLCN2 100.00 0 No comment CLCN4 100.00 0 No comment CLCNKA 99.99 0 No comment CLCNKB 99.96 0 No comment CLDN16 100.00 0 No comment CLIC2 99.96 0 No comment CLN3 100.00 0 No comment CLN5 98.80 0 No comment CLN6 100.00 0 No comment CLN8 100.00 0 No comment CLPP 97.95 0 No comment CNKSR2 99.82 0 No comment CNNM2 100.00 0 No comment CNTN2 100.00 0 No comment CNTNAP2 99.10 0 No comment COA5 100.00 0 No comment COG1 99.01 0 No comment COG4 100.00 0 No comment COG5 99.95 0 No comment COG6 100.00 0 No comment COG7 100.00 0 No comment COG8 99.96 0 No comment COL18A1 99.86 0 No comment COL4A1 98.48 0 No comment COL4A2 100.00 0 No comment COQ2 99.66 0 No comment COQ4 100.00 0 No comment COQ6 100.00 0 No comment COQ9 100.00 0 No comment COX10 100.00 0 No comment COX14 100.00 0 No comment COX15 99.99 0 No comment COX20 95.39 0 No comment COX6B1 100.00 0 No comment COX8A 100.00 0 No comment CYP2A6 100.00 0 No comment CYP21A2 100.00 0 No comment CPT1A 100.00 0 No comment CPT2 98.55 0 No comment CRH 99.37 0 No comment CRLF1 89.19 0 No comment CSNK1G1 100.00 0 No comment CSPP1 99.98 0 No comment CSTB 98.75 0 No comment CTC1 99.70 0 No comment CTSA 99.94 0 No comment CTSD 93.41 0 No comment CTSF 90.14 0 No comment CUL4B 99.51 0 No comment CYP27A1 99.38 0 No comment CYP27B1 99.05 0 No comment D2HGDH 99.95 0 No comment DARS2 100.00 0 No comment DBT 100.00 0 No comment DCHS1 99.86 0 No comment DCX 99.94 0 No comment DDC 100.00 0 No comment DDOST 100.00 0 No comment DDX3X 100.00 0 No comment DENND5A 99.04 0 No comment DEPDC5 100.00 0 No comment DHCR24 98.73 0 No comment DHCR7 99.97 0 No comment DHFR 91.86 0 No comment DIAPH1 99.95 0 No comment DLD 100.00 0 No comment DLGAP2 99.95 0 No comment DMD 99.96 0 No comment DNAJC5 100.00 0 No comment DNAJC6 99.98 0 No comment DNM1 93.52 0 No comment DNM1L 100.00 0 No comment DOCK6 99.15 0 No comment DOCK7 98.80 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DPYD 100.00 0 No comment DPYS 99.47 0 No comment DYNC1H1 99.92 0 No comment DYRK1A 100.00 0 No comment EARS2 100.00 0 No comment ECM1 100.00 0 No comment EEF1A2 99.08 0 No comment EFHC1 100.00 0 No comment EFHC2 99.79 0 No comment EFTUD2 99.99 0 No comment EHMT1 97.78 0 No comment EIF2B1 100.00 0 No comment EIF2B2 99.61 0 No comment EIF2B3 98.87 0 No comment EIF2B4 100.00 0 No comment EIF2B5 100.00 0 No comment EIF2S3 100.00 0 No comment ELOVL4 100.00 0 No comment ELP4 100.00 0 No comment EML1 98.26 0 No comment EMX2 99.97 0 No comment EOMES 100.00 0 No comment EPG5 100.00 0 No comment EPM2A 97.21 0 No comment EPRS 100.00 0 No comment ERBB4 100.00 0 No comment ERLIN2 100.00 0 No comment ERMARD 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment ETHE1 97.84 0 No comment EXOC6B 99.94 0 No comment EXOSC3 100.00 0 No comment EZH2 100.00 0 No comment FA2H 95.71 0 No comment FADD 90.35 0 No comment HYCC1 100.00 0 No comment FARS2 100.00 0 No comment FASN 99.95 0 No comment FASTKD2 100.00 0 No comment FAT4 100.00 0 No comment FBXL4 100.00 0 No comment FGD1 99.24 0 No comment FGF12 99.90 0 No comment FGF8 94.19 0 No comment FGFR3 99.24 0 No comment FH 100.00 0 No comment FKRP 100.00 0 No comment FKTN 100.00 0 No comment FLNA 99.75 0 No comment FLVCR2 99.87 0 No comment FMR1 99.99 0 No comment FOLR1 100.00 0 No comment FOXG1 92.10 0 No comment FOXH1 100.00 0 No comment FOXRED1 100.00 0 No comment FRRS1L 82.37 0 No comment FTL 100.00 0 No comment FTO 100.00 0 No comment FUCA1 99.91 0 No comment GABBR2 96.91 0 No comment GABRA1 100.00 0 No comment GABRA3 99.59 0 No comment GABRB1 99.97 0 No comment GABRB2 100.00 0 No comment GABRB3 100.00 0 No comment GABRD 92.59 0 No comment GABRG2 91.70 0 No comment GAL 100.00 0 No comment GALC 98.98 0 No comment GALNS 94.36 0 No comment GAMT 97.00 0 No comment GATA3 100.00 0 No comment GATA6 87.61 0 No comment GATAD2B 100.00 0 No comment GATM 98.74 0 No comment GBA1 100.00 0 No comment GCDH 100.00 0 No comment GCH1 99.71 0 No comment GCK 99.13 0 No comment GCM2 100.00 0 No comment GCSH 73.97 0 No comment GFAP 100.00 0 No comment GFM1 100.00 0 No comment GJC2 96.72 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GLDC 97.39 0 No comment GLI2 96.28 0 No comment GLI3 100.00 0 No comment GLRA1 100.00 0 No comment GLRB 100.00 0 No comment GLUD1 96.22 0 No comment GLUL 100.00 0 No comment GLYCTK 98.86 0 No comment GM2A 100.00 0 No comment GMPPB 100.00 0 No comment GNAO1 100.00 0 No comment GNB1 100.00 0 No comment GNE 100.00 0 No comment GNPTAB 99.91 0 No comment GNPTG 95.92 0 No comment GNS 100.00 0 No comment GOSR2 100.00 0 No comment GPC3 99.72 0 No comment GPHN 100.00 0 No comment ADGRG1 99.99 0 No comment ADGRV1 100.00 0 No comment GRIA3 99.99 0 No comment GRIN1 99.80 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRIN2D 77.00 0 No comment GRINA 100.00 0 No comment GRN 100.00 0 No comment GSS 100.00 0 No comment GTPBP3 99.60 0 No comment GUF1 100.00 0 No comment GUSB 97.13 0 No comment HACE1 98.41 0 No comment HADH 100.00 0 No comment HAX1 100.00 0 No comment HCCS 100.00 0 No comment HCFC1 99.85 0 No comment HCN1 99.93 0 No comment HCN4 97.56 0 No comment HDAC4 99.86 0 No comment HDAC8 99.75 0 No comment HEPACAM 99.85 0 No comment HERC2 97.66 0 No comment HESX1 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.19 0 No comment HGSNAT 94.10 0 No comment HLCS 100.00 0 No comment HMBS 100.00 0 No comment HMGCL 100.00 0 No comment HNRNPH1 100.00 0 No comment HNRNPH2 100.00 0 No comment HNRNPU 99.82 0 No comment HPD 100.00 0 No comment HRAS 100.00 0 No comment HSD17B10 100.00 0 No comment HSD17B4 100.00 0 No comment HSPD1 95.18 0 No comment HTRA2 100.00 0 No comment HYAL1 100.00 0 No comment IDH2 93.11 0 No comment IDS 99.88 0 No comment IDUA 91.86 0 No comment IER3IP1 99.44 0 No comment ELP1 100.00 0 No comment INPP5E 99.14 0 No comment INS 97.76 0 No comment INSR 96.68 0 No comment IQSEC2 98.53 0 No comment CRPPA 95.50 0 No comment ITPA 100.00 0 No comment IVD 100.00 0 No comment JAM3 99.88 0 No comment JRK 100.00 0 No comment KANSL1 100.00 0 No comment KAT6B 100.00 0 No comment KCNA1 100.00 0 No comment KCNA2 100.00 0 No comment KCNAB1 100.00 0 No comment KCNB1 98.34 0 No comment KCNC1 100.00 0 No comment KCND2 100.00 0 No comment KCNH1 100.00 0 No comment KCNH2 98.15 0 No comment KCNH5 100.00 0 No comment KCNJ1 100.00 0 No comment KCNJ10 100.00 0 No comment KCNJ11 100.00 0 No comment KCNK18 100.00 0 No comment KCNMA1 99.93 0 No comment KCNQ2 99.92 0 No comment KCNQ3 98.20 0 No comment KCNT1 98.96 0 No comment KCNV2 100.00 0 No comment KCTD7 100.00 0 No comment KDM5C 99.97 0 No comment KDM6A 99.72 0 No comment RUBCN 96.60 0 No comment KIFBP 100.00 0 No comment NEXMIF 100.00 0 No comment KIF11 100.00 0 No comment KIF2A 99.97 0 No comment KIF4A 99.86 0 No comment KIF5C 100.00 0 No comment KIF7 99.64 0 No comment KMT2B 98.33 0 No comment KMT2D 99.98 0 No comment KPTN 100.00 0 No comment KRAS 100.00 0 No comment KRIT1 100.00 0 No comment L1CAM 99.98 0 No comment L2HGDH 99.75 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 98.42 0 No comment LARGE1 100.00 0 No comment LBR 100.00 0 No comment LGI1 100.00 0 No comment LIAS 100.00 0 No comment LIG1 99.86 0 No comment LIG4 100.00 0 No comment LMBRD1 100.00 0 No comment LMNB2 95.84 0 No comment LRFN1 99.79 0 No comment LRFN2 100.00 0 No comment LRFN3 99.92 0 No comment LRFN4 98.83 0 No comment LRFN5 100.00 0 No comment LRP2 99.71 0 No comment LRPPRC 98.80 0 No comment MAGI2 94.89 0 No comment MAGT1 100.00 0 No comment MAN1B1 99.81 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.99 0 No comment MAPK10 100.00 0 No comment MBD5 100.00 0 No comment MBOAT7 99.93 0 No comment MBTPS2 100.00 0 No comment MCCC1 99.77 0 No comment MCOLN1 95.75 0 No comment MCPH1 99.70 0 No comment MDH2 94.63 0 No comment ME2 100.00 0 No comment MECP2 96.46 0 No comment MED12 99.98 0 No comment MED17 100.00 0 No comment MEF2C 100.00 0 No comment MFF 100.00 0 No comment MFSD8 100.00 0 No comment MGAT2 100.00 0 No comment MGME1 100.00 0 No comment MLC1 98.57 0 No comment MLYCD 96.09 0 No comment MMACHC 100.00 0 No comment MMADHC 100.00 0 No comment MOCS1 99.94 0 No comment MOCS2 100.00 0 No comment MOGS 98.86 0 No comment MPDU1 100.00 0 No comment MPDZ 100.00 0 No comment MPI 100.00 0 No comment MSX2 100.00 0 No comment MTHFR 100.00 0 No comment MTOR 100.00 0 No comment MTR 100.00 0 No comment MTRR 100.00 0 No comment MMUT 99.99 0 No comment MYO5A 99.67 0 No comment NAA10 96.95 0 No comment NACC1 100.00 0 No comment NAGA 100.00 0 No comment NAGLU 96.69 0 No comment NALCN 100.00 0 No comment NARS2 99.88 0 No comment NDE1 100.00 0 No comment NDP 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA10 96.45 0 No comment NDUFA11 80.54 0 No comment NDUFA12 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF3 100.00 0 No comment NDUFAF4 99.26 0 No comment NDUFAF5 99.96 0 No comment NDUFAF6 95.61 0 No comment NDUFB3 98.57 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 99.96 0 No comment NDUFS6 100.00 0 No comment NDUFS7 93.34 0 No comment NDUFS8 100.00 0 No comment NDUFV1 99.62 0 No comment NDUFV2 100.00 0 No comment NECAP1 100.00 0 No comment NEDD4L 98.66 0 No comment NEU1 100.00 0 No comment NF1 98.78 0 No comment NFIX 94.60 0 No comment NGLY1 99.96 0 No comment NHEJ1 100.00 0 No comment NHLRC1 96.01 0 No comment NIN 100.00 0 No comment NIPA2 100.00 0 No comment NIPBL 99.48 0 No comment NLGN4X 100.00 0 No comment NLGN4Y 60.20 0 No comment NODAL 99.87 0 No comment NOTCH3 93.46 0 No comment NPC1 97.50 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NRAS 100.00 0 No comment NRXN1 99.87 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment NUBPL 99.92 0 No comment OCLN 100.00 0 No comment OCRL 98.81 0 No comment OFD1 97.13 0 No comment OPHN1 99.94 0 No comment OTC 99.17 0 No comment OTX2 100.00 0 No comment PACS2 99.96 0 No comment PAFAH1B1 100.00 0 No comment PAH 100.00 0 No comment PAK3 98.75 0 No comment PANK2 100.00 0 No comment PAX6 100.00 0 No comment PODXL 100.00 0 No comment PCBD1 85.60 0 No comment PCCA 99.94 0 No comment PCCB 99.54 0 No comment PCDH19 98.99 0 No comment PCNT 99.88 0 No comment PDCD10 100.00 0 No comment PDE6D 100.00 0 No comment PDGFB 97.18 0 No comment PDGFRB 99.98 0 No comment PDHA1 92.64 0 No comment PDHX 100.00 0 No comment PDP1 100.00 0 No comment PDSS1 85.11 0 No comment PDSS2 100.00 0 No comment PET100 100.00 0 No comment PEX1 100.00 0 No comment PEX10 87.10 0 No comment PEX11B 100.00 0 No comment PEX12 100.00 0 No comment PEX13 100.00 0 No comment PEX14 99.31 0 No comment PEX16 99.97 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 99.74 0 No comment PEX7 95.60 0 No comment PGAP2 100.00 0 No comment PGAP3 98.48 0 No comment PGK1 99.88 0 No comment PGM1 100.00 0 No comment PHF6 100.00 0 No comment PHGDH 100.00 0 No comment PIGA 98.95 0 No comment PIGL 100.00 0 No comment PIGM 100.00 0 No comment PIGN 100.00 0 No comment PIGO 100.00 0 No comment PIGP 100.00 0 No comment PIGQ 100.00 0 No comment PIGT 100.00 0 No comment PIGV 100.00 0 No comment PIK3AP1 99.71 0 No comment PIK3CA 100.00 0 No comment PIK3R2 88.52 0 No comment PLA2G6 100.00 0 No comment PLCB1 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PNKP 99.84 0 No comment PNPO 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment POMC 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 99.53 0 No comment PPFIA1 100.00 0 No comment PPFIA2 100.00 0 No comment PPFIA3 96.20 0 No comment PPFIA4 100.00 0 No comment PPFIBP1 100.00 0 No comment PPFIBP2 100.00 0 No comment PPP2R2C 99.91 0 No comment PPT1 100.00 0 No comment PQBP1 99.91 0 No comment PRDM8 88.36 0 No comment PRF1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRICKLE2 100.00 0 No comment PRODH 88.26 0 No comment PLPBP 99.89 0 No comment PRRT2 100.00 0 No comment PSAP 100.00 0 No comment PSAT1 99.61 0 No comment PSPH 100.00 0 No comment PTCH1 98.82 0 No comment PTEN 99.45 0 No comment PTH 100.00 0 No comment PTPN11 94.43 0 No comment PTS 99.91 0 No comment PURA 95.47 0 No comment QARS1 100.00 0 No comment QDPR 98.39 0 No comment RAB18 99.99 0 No comment RAB27A 100.00 0 No comment RAB39B 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RAD21 100.00 0 No comment RAF1 100.00 0 No comment RAI1 93.59 0 No comment RANBP2 95.47 0 No comment RANGAP1 100.00 0 No comment RARS2 100.00 0 No comment RBBP8 99.97 0 No comment RBFOX1 98.87 0 No comment RBFOX3 98.41 0 No comment RELN 100.00 0 No comment RFT1 99.87 0 No comment RGMA 100.00 0 No comment RHOBTB2 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 94.58 0 No comment RNASEH2C 100.00 0 No comment RNASET2 100.00 0 No comment ROGDI 91.40 0 No comment RORB 100.00 0 No comment RPGRIP1L 96.40 0 No comment RPIA 99.96 0 No comment RRM2B 100.00 0 No comment RTTN 99.98 0 No comment RYR3 100.00 0 No comment SAMHD1 100.00 0 No comment SATB2 99.34 0 No comment SCARB2 99.99 0 No comment SCN10A 100.00 0 No comment SCN1A 100.00 0 No comment SCN1B 87.40 0 No comment SCN2A 100.00 0 No comment SCN2B 100.00 0 No comment SCN3A 100.00 0 No comment SCN3B 100.00 0 No comment SCN4A 100.00 0 No comment SCN4B 100.00 0 No comment SCN5A 100.00 0 No comment SCN8A 100.00 0 No comment SCN9A 99.99 0 No comment SCO2 93.85 0 No comment SDHA 95.31 0 No comment SDHAF1 90.31 0 No comment SEPSECS 99.57 0 No comment SERPINI1 100.00 0 No comment SETBP1 100.00 0 No comment SETD5 100.00 0 No comment SGSH 99.85 0 No comment SHANK3 90.31 0 No comment SHH 99.47 0 No comment SHOC2 100.00 0 No comment SHROOM4 99.98 0 No comment SIK1 100.00 0 No comment SIX3 99.61 0 No comment SLC12A5 99.86 0 No comment SLC12A6 100.00 0 No comment SLC13A5 100.00 0 No comment SLC16A1 100.00 0 No comment SLC16A2 99.97 0 No comment SLC17A5 100.00 0 No comment SLC19A3 99.90 0 No comment SLC1A2 100.00 0 No comment SLC1A3 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A1 98.83 0 No comment SLC25A12 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A19 100.00 0 No comment SLC25A20 100.00 0 No comment SLC25A22 100.00 0 No comment SLC2A1 100.00 0 No comment SLC2A2 99.95 0 No comment SLC35A1 100.00 0 No comment SLC35A2 100.00 0 No comment SLC35A3 100.00 0 No comment SLC35C1 100.00 0 No comment SLC3A2 90.78 0 No comment SLC46A1 99.98 0 No comment SLC4A10 99.99 0 No comment SLC6A1 100.00 0 No comment SLC6A19 99.98 0 No comment SLC6A5 100.00 0 No comment SLC6A8 99.41 0 No comment SLC6A9 100.00 0 No comment SLC9A6 99.66 0 No comment SLC9A9 100.00 0 No comment SMARCA1 98.12 0 No comment SMARCA2 98.99 0 No comment SMARCA4 100.00 0 No comment SMARCB1 100.00 0 No comment SMARCE1 98.46 0 No comment SMC1A 99.87 0 No comment SMC3 100.00 0 No comment SMPD1 100.00 0 No comment SNAP25 100.00 0 No comment SNAP29 100.00 0 No comment SNIP1 100.00 0 No comment SOS1 100.00 0 No comment SOX10 95.36 0 No comment SOX2 95.35 0 No comment SPRED1 100.00 0 No comment SPTAN1 100.00 0 No comment SRD5A3 98.61 0 No comment SRGAP3 100.00 0 No comment SRPX2 99.04 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 90.70 0 No comment STAMBP 100.00 0 No comment STIL 100.00 0 No comment STRADA 100.00 0 No comment STX1B 99.96 0 No comment STXBP1 100.00 0 No comment SUCLA2 99.86 0 No comment SUCLG1 93.27 0 No comment SUMF1 100.00 0 No comment SUOX 100.00 0 No comment SURF1 82.91 0 No comment SYN1 96.00 0 No comment SYNGAP1 99.76 0 No comment SYNJ1 99.72 0 No comment SYP 97.84 0 No comment SZT2 99.99 0 No comment TACO1 99.66 0 No comment TBC1D20 95.06 0 No comment TBC1D24 99.99 0 No comment TBCE 100.00 0 No comment TBL1XR1 100.00 0 No comment TBX1 83.55 0 No comment TCF4 100.00 0 No comment TCF7L2 100.00 0 No comment TCTN1 100.00 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TGIF1 100.00 0 No comment TK2 100.00 0 No comment TMEM138 100.00 0 No comment TMEM165 91.64 0 No comment TMEM216 99.87 0 No comment TMEM231 100.00 0 No comment TMEM237 99.85 0 No comment RXYLT1 100.00 0 No comment TMEM67 99.95 0 No comment TMEM70 100.00 0 No comment TNK2 99.86 0 No comment ACD 99.99 0 No comment TRAK1 100.00 0 No comment TREM2 100.00 0 No comment TREX1 100.00 0 No comment TRPM6 100.00 0 No comment TSC1 100.00 0 No comment TSC2 99.94 0 No comment TSEN2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 91.60 0 No comment TTC21B 100.00 0 No comment TTN 100.00 0 No comment TTR 100.00 0 No comment TUBA1A 100.00 0 No comment TUBA8 99.98 0 No comment TUBB2A 100.00 0 No comment TUBB2B 100.00 0 No comment TUBB3 99.01 0 No comment TUBB4A 100.00 0 No comment TUBG1 100.00 0 No comment TUSC3 100.00 0 No comment TYROBP 100.00 0 No comment UBA5 100.00 0 No comment UBE2A 100.00 0 No comment UBE3A 100.00 0 No comment UBR5 100.00 0 No comment UPB1 100.00 0 No comment VANGL1 100.00 0 No comment VARS1 100.00 0 No comment VDAC1 95.12 0 No comment VLDLR 96.00 0 No comment VPS13A 100.00 0 No comment VPS13B 100.00 0 No comment VPS53 100.00 0 No comment VRK1 100.00 0 No comment WDR45 100.00 0 No comment WDR45B 99.94 0 No comment WDR62 100.00 0 No comment WFS1 100.00 0 No comment WWOX 100.00 0 No comment XK 99.44 0 No comment YWHAG 100.00 0 No comment ZBTB18 99.54 0 No comment ZC4H2 100.00 0 No comment ZDHHC9 100.00 0 No comment ZEB2 99.96 0 No comment ZIC2 95.66 0 No comment ZNF335 100.00 0 No comment ZNF423 100.00 0 No comment -
Epilepsy gene panel - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment AARS1 100.00 0 No comment AASS 100.00 0 No comment ABAT 100.00 0 No comment ABCB1 100.00 0 No comment ABCC8 99.81 0 No comment ABCD1 99.93 0 No comment ACADM 99.94 0 No comment ACADS 99.48 0 No comment ACADSB 100.00 0 No comment ACO2 100.00 0 No comment ACOX1 100.00 0 No comment ACSF3 100.00 0 No comment ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ACVR1 100.00 0 No comment ACY1 100.00 0 No comment ADAR 100.00 0 No comment ADGRG1 100.00 0 No comment ADGRV1 100.00 0 No comment ADK 100.00 0 No comment ADRA2B 100.00 0 No comment ADSL 100.00 0 No comment AFG3L2 95.05 0 No comment AGA 100.00 0 No comment AGTR2 100.00 0 No comment AHI1 100.00 0 No comment AIFM1 100.00 0 No comment AIMP1 100.00 0 No comment AKT2 100.00 0 No comment AKT3 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.95 0 No comment ALDH4A1 97.15 0 No comment ALDH5A1 83.59 0 No comment ALDH7A1 100.00 0 No comment ALG1 92.65 0 No comment ALG11 100.00 0 No comment ALG12 100.00 0 No comment ALG13 99.96 0 No comment ALG2 99.94 0 No comment ALG3 99.22 0 No comment ALG6 100.00 0 No comment ALG8 95.91 0 No comment ALG9 98.65 0 No comment ALMS1 100.00 0 No comment AMACR 99.83 0 No comment AMER1 100.00 0 No comment AMT 99.94 0 No comment ANKH 100.00 0 No comment ANKRD11 100.00 0 No comment AP3B2 99.73 0 No comment AP4E1 100.00 0 No comment APTX 100.00 0 No comment AR 99.29 0 No comment ARFGEF2 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF15 100.00 0 No comment ARHGEF9 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment ARL13B 100.00 0 No comment ARSA 100.00 0 No comment SLURP1 85.73 0 No comment ARX 78.98 0 No comment ASAH1 99.94 0 No comment ASL 100.00 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 ATIC 99.06 0 No comment ATN1 100.00 0 No comment ATP1A2 100.00 0 No comment ATP1A3 100.00 0 No comment ATP2A2 100.00 0 No comment ATP5F1A 100.00 0 No comment ATP6AP2 99.95 0 No comment ATP6V0A2 100.00 0 No comment ATP7A 100.00 0 No comment ATPAF2 100.00 0 No comment ANTXR1 100.00 0 No comment ATRX 100.00 0 No comment ATXN10 99.48 0 No comment AUH 96.44 0 No comment AVPR2 100.00 0 No comment B3GALNT2 85.88 0 No comment B3GNT2 100.00 0 No comment B4GALT1 100.00 0 No comment B4GAT1 100.00 0 No comment BCAP31 100.00 0 No comment BCKDHA 100.00 0 No comment BCKDHB 100.00 0 No comment BCKDK 100.00 0 No comment BCS1L 100.00 0 No comment BOLA3 84.43 0 No comment BRAF 96.97 0 No comment BRAT1 100.00 0 No comment BRD2 95.47 0 No comment BTD 100.00 0 No comment BUB1B 100.00 0 No comment C12ORF57 100.00 0 No comment MTRFR 100.00 0 No comment CACNA1A 98.78 0 No comment CACNA1D 100.00 0 No comment CACNA1H 97.35 0 No comment CACNA2D1 100.00 0 No comment CACNA2D2 94.87 0 No comment CACNB4 100.00 0 No comment CAMK2B 99.93 0 No comment CASK 100.00 0 No comment CASQ2 100.00 0 No comment CASR 100.00 0 No comment CBL 100.00 0 No comment CBS 100.00 0 No comment CC2D2A 98.16 0 No comment CCBE1 99.97 0 No comment CCDC88C 99.92 0 No comment CCL2 100.00 0 No comment CCM2 99.98 0 No comment CDK5RAP2 100.00 0 No comment CDKL5 100.00 0 No comment CDON 100.00 0 No comment CELSR1 93.72 0 No comment CENPJ 100.00 0 No comment CEP135 100.00 0 No comment CEP152 100.00 0 No comment CEP164 100.00 0 No comment CEP290 99.99 0 No comment CEP41 100.00 0 No comment CEP63 95.17 0 No comment CERS1 77.89 0 No comment CHD2 100.00 0 No comment CHD8 100.00 0 No comment CHKB 99.69 0 No comment CHMP1A 100.00 0 No comment CHRNA2 100.00 0 No comment CHRNA4 97.18 0 No comment CHRNA7 97.88 0 No comment CHRNB2 99.92 0 No comment CLCN1 100.00 0 No comment CLCN2 100.00 0 No comment CLCN4 100.00 0 No comment CLCNKA 100.00 0 No comment CLCNKB 100.00 0 No comment CLDN16 100.00 0 No comment CLIC2 100.00 0 No comment CLN3 100.00 0 No comment CLN5 99.94 0 No comment CLN6 90.35 0 No comment CLN8 100.00 0 No comment CLPP 100.00 0 No comment CNTN2 100.00 0 No comment CNTNAP2 99.85 0 No comment COA5 100.00 0 No comment COG1 99.24 0 No comment COG4 100.00 0 No comment COG5 100.00 0 No comment COG6 100.00 0 No comment COG7 100.00 0 No comment COG8 100.00 0 No comment COL18A1 97.80 0 No comment COL4A1 98.71 0 No comment COL4A2 100.00 0 No comment COQ2 97.15 0 No comment COQ6 100.00 0 No comment COQ8A 100.00 0 No comment COQ9 99.99 0 No comment COX10 100.00 0 No comment COX14 100.00 0 No comment COX15 100.00 0 No comment COX20 98.72 0 No comment COX6B1 100.00 0 No comment CYP2A6 100.00 0 No comment CPLANE1 100.00 0 No comment CYP21A2 100.00 0 No comment CPT2 98.71 0 No comment CRH 100.00 0 No comment CRLF1 89.81 0 No comment CRPPA 95.75 0 No comment CSNK1G1 100.00 0 No comment CSPP1 100.00 0 No comment CSTB 99.03 0 No comment CTC1 100.00 0 No comment CTSA 100.00 0 No comment CTSD 99.45 0 No comment CTSF 87.32 0 No comment CUL4B 100.00 0 No comment CYP27A1 99.68 0 No comment CYP27B1 99.96 0 No comment D2HGDH 100.00 0 No comment DBT 100.00 0 No comment DCHS1 99.64 0 No comment DCX 100.00 0 No comment DDC 100.00 0 No comment DDOST 100.00 0 No comment DEPDC5 99.62 0 No comment DHCR24 99.96 0 No comment DHCR7 100.00 0 No comment DHDDS 100.00 0 No comment DHFR 99.48 0 No comment DLD 100.00 0 No comment DLGAP2 100.00 0 No comment DMD 100.00 0 No comment DNAJC5 100.00 0 No comment DNAJC6 100.00 0 No comment DNM1 94.44 0 No comment DOCK6 99.12 0 No comment DOCK7 99.17 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DPYD 100.00 0 No comment DPYS 99.91 0 No comment DYNC1H1 100.00 0 No comment DYRK1A 100.00 0 No comment EARS2 100.00 0 No comment ECM1 100.00 0 No comment EEF1A2 99.76 0 No comment EFHC1 100.00 0 No comment EFHC2 100.00 0 No comment EFTUD2 100.00 0 No comment EHMT1 98.85 0 No comment EIF2B1 100.00 0 No comment EIF2B2 100.00 0 No comment EIF2B3 100.00 0 No comment EIF2B4 100.00 0 No comment EIF2B5 100.00 0 No comment ELOVL4 100.00 0 No comment ELP1 100.00 0 No comment ELP4 92.12 0 No comment EMX2 100.00 0 No comment EOMES 98.56 0 No comment EPG5 100.00 0 No comment EPM2A 85.54 0 No comment ERLIN2 100.00 0 No comment ERMARD 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment ETHE1 99.88 0 No comment EXOC6B 100.00 0 No comment EXOSC3 100.00 0 No comment EZH2 100.00 0 No comment FA2H 92.06 0 No comment FADD 92.08 0 No comment HYCC1 100.00 0 No comment FARS2 100.00 0 No comment FASTKD2 100.00 0 No comment FAT4 100.00 0 No comment FBXL4 100.00 0 No comment FGD1 99.39 0 No comment FGF8 94.82 0 No comment FGFR3 99.26 0 No comment FH 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FLVCR2 100.00 0 No comment FMR1 100.00 0 No comment FOLR1 100.00 0 No comment FOXG1 85.88 0 No comment FOXH1 100.00 0 No comment FTO 100.00 0 No comment FUCA1 100.00 0 No comment GABBR2 95.78 0 No comment GABRA1 100.00 0 No comment GABRB2 100.00 0 No comment GABRB3 99.79 0 No comment GABRD 94.04 0 No comment GABRG2 92.03 0 No comment GAL 100.00 0 No comment GALC 98.44 0 No comment GALNS 96.18 0 No comment GAMT 98.60 0 No comment GATA3 100.00 0 No comment GATA6 81.11 0 No comment GATM 99.26 0 No comment GBA1 100.00 0 No comment GCDH 100.00 0 No comment GCH1 96.30 0 No comment GCK 100.00 0 No comment GCM2 100.00 0 No comment GCSH 76.04 0 No comment GFAP 100.00 0 No comment GFM1 100.00 0 No comment GJC2 81.91 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GLDC 96.53 0 No comment GLI2 95.11 0 No comment GLI3 100.00 0 No comment GLRA1 100.00 0 No comment GLRB 100.00 0 No comment GLUD1 99.45 0 No comment GLUL 100.00 0 No comment GLYCTK 100.00 0 No comment GM2A 100.00 0 No comment GMPPB 100.00 0 No comment GNAO1 100.00 0 No comment GNE 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GNS 100.00 0 No comment GOSR2 100.00 0 No comment GPC3 100.00 0 No comment GPHN 100.00 0 No comment GRIA3 100.00 0 No comment GRIN1 99.97 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRINA 100.00 0 No comment GRN 100.00 0 No comment GTPBP3 100.00 0 No comment GUSB 100.00 0 No comment HADH 100.00 0 No comment HAX1 100.00 0 No comment HCCS 100.00 0 No comment HCFC1 100.00 0 No comment HCN1 95.88 0 No comment HCN4 92.35 0 No comment HDAC4 100.00 0 No comment HDAC8 100.00 0 No comment HEPACAM 96.82 0 No comment HERC2 99.62 0 No comment HESX1 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.82 0 No comment HGSNAT 93.95 0 No comment HLCS 100.00 0 No comment HMBS 100.00 0 No comment HNRNPU 99.54 0 No comment HPD 100.00 0 No comment HRAS 100.00 0 No comment HSD17B10 100.00 0 No comment HSD17B4 100.00 0 No comment HSPD1 99.53 0 No comment HYAL1 100.00 0 No comment IDH2 92.01 0 No comment IDS 100.00 0 No comment IDUA 88.67 0 No comment IER3IP1 99.93 0 No comment INPP5E 99.54 0 No comment INS 100.00 0 No comment INSR 97.31 0 No comment IQSEC2 99.73 0 No comment IVD 100.00 0 No comment JAM3 100.00 0 No comment JRK 100.00 0 No comment KANSL1 100.00 0 No comment KAT6A 100.00 0 No comment KAT6B 100.00 0 No comment KCNA1 100.00 0 No comment KCNA2 100.00 0 No comment KCNAB1 100.00 0 No comment KCNB1 99.89 0 No comment KCNC1 100.00 0 No comment KCND2 100.00 0 No comment KCNH1 100.00 0 No comment KCNH2 94.44 0 No comment KCNH5 100.00 0 No comment KCNJ1 100.00 0 No comment KCNJ10 100.00 0 No comment KCNJ11 100.00 0 No comment KCNK18 100.00 0 No comment KCNMA1 99.94 0 No comment KCNQ2 99.98 0 No comment KCNQ3 96.44 0 No comment KCNT1 99.74 0 No comment KCNV2 100.00 0 No comment KCTD7 97.35 0 No comment KDM5C 100.00 0 No comment KDM6A 100.00 0 No comment KIF11 100.00 0 No comment KIFBP 100.00 0 No comment KIF2A 98.88 0 No comment KIF4A 100.00 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KMT2B 97.12 0 No comment KMT2D 100.00 0 No comment KNL1 98.62 0 No comment KPTN 100.00 0 No comment KRAS 100.00 0 No comment KRIT1 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 LGI1 100.00 0 No comment LIAS 100.00 0 No comment LIG1 100.00 0 No comment LIG4 100.00 0 No comment LMBRD1 100.00 0 No comment LRFN1 100.00 0 No comment LRFN2 100.00 0 No comment LRFN3 99.97 0 No comment LRFN4 100.00 0 No comment LRFN5 100.00 0 No comment LRP2 99.96 0 No comment LRPPRC 99.14 0 No comment MAGI2 92.73 0 No comment MAGT1 100.00 0 No comment MAN1B1 99.99 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MAPK10 100.00 0 No comment MBD5 100.00 0 No comment MBTPS2 100.00 0 No comment MCCC1 100.00 0 No comment MCOLN1 97.27 0 No comment MCPH1 100.00 0 No comment ME2 100.00 0 No comment MECP2 98.28 0 No comment MED12 100.00 0 No comment MED17 100.00 0 No comment MEF2C 100.00 0 No comment MFSD8 100.00 0 No comment MGAT2 100.00 0 No comment MGME1 100.00 0 No comment MLC1 100.00 0 No comment MLYCD 85.50 0 No comment MMACHC 100.00 0 No comment MMADHC 100.00 0 No comment MMUT 100.00 0 No comment MOCS1 99.95 0 No comment MOCS2 100.00 0 No comment MOGS 98.73 0 No comment MPDU1 100.00 0 No comment MPDZ 100.00 0 No comment MPI 100.00 0 No comment MSX2 100.00 0 No comment MTHFR 100.00 0 No comment MTOR 100.00 0 No comment MTR 100.00 0 No comment MTRR 100.00 0 No comment MYO5A 99.60 0 No comment NAA10 96.03 0 No comment NAGA 100.00 0 No comment NAGLU 87.38 0 No comment NALCN 100.00 0 No comment NDE1 100.00 0 No comment NDP 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA10 95.87 0 No comment NDUFA11 98.06 0 No comment NDUFA12 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF3 100.00 0 No comment NDUFAF4 100.00 0 No comment NDUFAF5 100.00 0 No comment NDUFAF6 93.73 0 No comment NDUFB3 100.00 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 100.00 0 No comment NDUFS6 100.00 0 No comment NDUFS7 99.49 0 No comment NDUFS8 100.00 0 No comment NDUFV1 100.00 0 No comment NDUFV2 100.00 0 No comment NECAP1 100.00 0 No comment NEDD4L 100.00 0 No comment NEU1 100.00 0 No comment NEXMIF 100.00 0 No comment NF1 99.95 0 No comment NFIX 97.15 0 No comment NGLY1 99.98 0 No comment NHEJ1 100.00 0 No comment NHLRC1 99.73 0 No comment NIN 100.00 0 No comment NIPA2 100.00 0 No comment NIPBL 99.98 0 No comment NLGN4X 100.00 0 No comment NLGN4Y 55.32 0 No comment NODAL 99.99 0 No comment NOTCH3 92.99 0 No comment NPC1 98.40 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NRAS 100.00 0 No comment NRXN1 98.52 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment NTRK2 100.00 0 No comment NUBPL 100.00 0 No comment NUS1 100.00 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 OTC 100.00 0 No comment OTX2 100.00 0 No comment PAFAH1B1 100.00 0 No comment PAH 99.94 0 No comment PAK3 100.00 0 No comment PANK2 98.60 0 No comment PAX6 100.00 0 No comment PODXL 100.00 0 No comment PCBD1 92.74 0 No comment PCDH19 99.91 0 No comment PCNT 100.00 0 No comment PDCD10 100.00 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 PDHX 99.87 0 No comment PDP1 100.00 0 No comment PDSS1 86.24 0 No comment PDSS2 100.00 0 No comment PET100 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 PGAP2 100.00 0 No comment PGAP3 99.90 0 No comment PGK1 100.00 0 No comment PGM1 100.00 0 No comment PHF6 100.00 0 No comment PHGDH 100.00 0 No comment PIGA 100.00 0 No comment PIGL 100.00 0 No comment PIGM 100.00 0 No comment PIGN 100.00 0 No comment PIGO 100.00 0 No comment PIGQ 100.00 0 No comment PIGV 100.00 0 No comment PIK3AP1 99.56 0 No comment PIK3CA 100.00 0 No comment PIK3R2 89.19 0 No comment PLA2G6 100.00 0 No comment PLCB1 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PNKP 100.00 0 No comment PNPO 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment POMC 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 PPFIA1 100.00 0 No comment PPFIA2 100.00 0 No comment PPFIA3 98.81 0 No comment PPFIA4 100.00 0 No comment PPFIBP1 100.00 0 No comment PPFIBP2 100.00 0 No comment PPP2R2C 100.00 0 No comment PPT1 100.00 0 No comment PQBP1 100.00 0 No comment PRF1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRICKLE2 100.00 0 No comment PRODH 86.43 0 No comment PRRT2 100.00 0 No comment PSAP 100.00 0 No comment PSAT1 100.00 0 No comment PTCH1 98.48 0 No comment PTEN 98.86 0 No comment PTH 100.00 0 No comment PTPN11 98.80 0 No comment PTS 100.00 0 No comment PURA 85.32 0 No comment QARS1 100.00 0 No comment QDPR 99.04 0 No comment RAB18 100.00 0 No comment RAB27A 100.00 0 No comment RAB39B 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RAD21 100.00 0 No comment RAF1 100.00 0 No comment RAI1 96.06 0 No comment RANGAP1 100.00 0 No comment RARS2 100.00 0 No comment RBBP8 100.00 0 No comment RBFOX1 99.94 0 No comment RBFOX3 99.96 0 No comment RELN 99.96 0 No comment RFT1 100.00 0 No comment RGMA 99.10 0 No comment RHOBTB2 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 95.67 0 No comment RNASEH2C 100.00 0 No comment RNASET2 99.98 0 No comment ROGDI 91.80 0 No comment RORB 100.00 0 No comment RPGRIP1L 96.45 0 No comment RPIA 100.00 0 No comment RRM2B 100.00 0 No comment RTTN 100.00 0 No comment RUBCN 97.68 0 No comment RXYLT1 99.84 0 No comment RYR3 100.00 0 No comment SAMHD1 100.00 0 No comment SATB2 100.00 0 No comment SCARB2 100.00 0 No comment SCN10A 100.00 0 No comment SCN1A 100.00 0 No comment SCN1B 94.12 0 No comment SCN2A 100.00 0 No comment SCN2B 100.00 0 No comment SCN3A 100.00 0 No comment SCN3B 100.00 0 No comment SCN4A 100.00 0 No comment SCN4B 100.00 0 No comment SCN5A 100.00 0 No comment SCN8A 100.00 0 No comment SCN9A 100.00 0 No comment SCO2 100.00 0 No comment SDHA 98.02 0 No comment SDHAF1 96.03 0 No comment SEPSECS 99.97 0 No comment SERPINI1 100.00 0 No comment SETBP1 99.99 0 No comment SGSH 99.99 0 No comment SHANK3 83.99 0 No comment SHH 92.83 0 No comment SHOC2 100.00 0 No comment SHROOM4 100.00 0 No comment SIK1 100.00 0 No comment SIX3 99.59 0 No comment SLC12A5 100.00 0 No comment SLC12A6 100.00 0 No comment SLC13A5 100.00 0 No comment SLC16A1 100.00 0 No comment SLC16A2 100.00 0 No comment SLC17A5 100.00 0 No comment SLC19A3 100.00 0 No comment SLC1A3 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A1 93.77 0 No comment SLC25A12 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A19 100.00 0 No comment SLC25A20 100.00 0 No comment SLC25A22 100.00 0 No comment SLC2A1 99.94 0 No comment SLC2A2 100.00 0 No comment SLC35A1 100.00 0 No comment SLC35A2 100.00 0 No comment SLC35C1 100.00 0 No comment SLC3A2 88.97 0 No comment SLC46A1 99.95 0 No comment SLC4A10 100.00 0 No comment SLC6A1 100.00 0 No comment SLC6A5 100.00 0 No comment SLC6A8 98.78 0 No comment SLC9A6 99.96 0 No comment SLC9A9 100.00 0 No comment SMARCA1 99.59 0 No comment SMARCA2 98.07 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 SMPD1 100.00 0 No comment SNAP25 100.00 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 SPRED1 100.00 0 No comment SPTAN1 100.00 0 No comment SRD5A3 99.42 0 No comment SRGAP3 100.00 0 No comment SRPX2 100.00 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 92.64 0 No comment STAMBP 100.00 0 No comment STIL 100.00 0 No comment STRADA 100.00 0 No comment STX1B 100.00 0 No comment STXBP1 100.00 0 No comment SUCLA2 100.00 0 No comment SUCLG1 95.74 0 No comment SUMF1 100.00 0 No comment SUOX 100.00 0 No comment SURF1 87.74 0 No comment SYN1 95.92 0 No comment SYNGAP1 100.00 0 No comment SYNJ1 99.96 0 No comment SYP 99.27 0 No comment SZT2 100.00 0 No comment TACO1 99.90 0 No comment TBC1D20 93.59 0 No comment TBC1D24 100.00 0 No comment TBCE 100.00 0 No comment TBX1 77.39 0 No comment TCF4 100.00 0 No comment TCTN1 93.78 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TGIF1 100.00 0 No comment TK2 95.90 0 No comment TMEM138 100.00 0 No comment TMEM165 89.91 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 TNK2 100.00 0 No comment ACD 100.00 0 No comment TREM2 100.00 0 No comment TREX1 100.00 0 No comment TRPM6 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 94.23 0 No comment TTC21B 100.00 0 No comment TTR 100.00 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB2A 99.99 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBB4A 99.85 0 No comment TUBG1 100.00 0 No comment TUSC3 100.00 0 No comment TWNK 100.00 0 No comment TYROBP 100.00 0 No comment UBE2A 99.62 0 No comment UBE3A 100.00 0 No comment UBR5 100.00 0 No comment UPB1 100.00 0 No comment VANGL1 100.00 0 No comment VARS2 100.00 0 No comment VDAC1 99.21 0 No comment VLDLR 96.53 0 No comment VPS13A 100.00 0 No comment VPS13B 99.25 0 No comment VPS53 100.00 0 No comment VRK1 100.00 0 No comment WDR45 100.00 0 No comment WDR62 100.00 0 No comment WFS1 100.00 0 No comment WWOX 100.00 0 No comment XK 100.00 0 No comment ZBTB18 100.00 0 No comment ZC4H2 100.00 0 No comment ZDHHC9 100.00 0 No comment ZEB2 100.00 0 No comment ZIC2 80.54 0 No comment ZNF335 100.00 0 No comment -
Primary Electrical disorders/Brugada syndrome (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCB4 100.00 0 ABCC9 100.00 0 ACTN2 100.00 0 AKAP9 100.00 0 ANK2 100.00 0 CACNA1C 100.00 0 CACNA2D1 100.00 0 CACNB2 100.00 0 CALM1 100.00 0 CALM2 100.00 0 CALM3 100.00 0 CASQ2 100.00 0 CAV3 100.00 0 CTNNA3 100.00 0 DES 100.00 0 DPP6 100.00 0 DSC2 100.00 0 DSG2 100.00 0 DSP 100.00 0 GJA1 100.00 0 GJA5 100.00 0 GNB5 100.00 0 GPD1L 100.00 0 HCN4 100.00 0 JUP 100.00 0 KCNA5 100.00 0 KCND3 100.00 0 KCNE1 100.00 0 KCNE2 100.00 0 KCNE3 100.00 0 KCNE5 100.00 0 KCNH2 100.00 0 KCNJ2 100.00 0 KCNJ5 100.00 0 KCNJ8 100.00 0 KCNK17 100.00 0 KCNQ1 100.00 0 LMNA 100.00 0 NKX2-5 100.00 0 NOS1AP 100.00 0 NPPA 100.00 0 PKP2 100.00 0 PLN 100.00 0 PPA2 100.00 0 PRKAG2 100.00 0 RANGRF 100.00 0 RRAD 100.00 0 RYR2 100.00 0 SCN1B 100.00 0 SCN2B 100.00 0 SCN3B 100.00 0 SCN4B 100.00 0 SCN5A 100.00 0 SCN10A 100.00 0 SLMAP 100.00 0 SNTA1 100.00 0 TGFB3 100.00 0 TMEM43 100.00 0 TRDN 100.00 0 TRPM4 100.00 0 CDH2 100.00 0 CLCA2 100.00 0 FLNC 100.00 0 GNB2 100.00 0 MYL3 100.00 0 MYL4 100.00 0 RBM20 100.00 0 RNF207 100.00 0 SLC4A3 100.00 0 TANGO2 100.00 0 TECRL 100.00 0 TNNI3K 100.00 0 TTN 100.00 0 -
Primary cardiac arrhythmias (113 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 100.00 0 No comment ACTN2 100.00 0 No comment ADRB1 78.34 0 No comment ADRB2 100.00 0 No comment AGTR1 100.00 0 No comment AGXT2 100.00 0 No comment AKAP9 100.00 0 No comment ALG10B 100.00 0 No comment ANK2 100.00 0 No comment BAG3 100.00 0 No comment CACNA1C 100.00 0 No comment CACNA2D1 100.00 0 No comment CACNA2D4 99.99 0 No comment CACNB2 100.00 0 No comment CALM1 100.00 0 No comment CALM2 100.00 0 No comment CALM3 99.99 0 No comment CASQ2 100.00 0 No comment CAV3 100.00 0 No comment CIT 100.00 0 No comment CKMT2 100.00 0 No comment CRP 100.00 0 No comment CSRP3 100.00 0 No comment CTNNA3 100.00 0 No comment DEPDC5 99.62 0 No comment DPP6 96.95 0 No comment DSC3 98.44 0 No comment DSG2 99.61 0 No comment DSP 100.00 0 No comment EMD 99.84 0 No comment FGF12 100.00 0 No comment GATA4 80.69 0 No comment GATA5 97.28 0 No comment GATA6 81.11 0 No comment GJA5 100.00 0 No comment GPD1L 100.00 0 No comment HCN4 92.35 0 No comment HSPA1L 100.00 0 No comment JPH2 95.10 0 No comment JUP 100.00 0 No comment KCNA5 100.00 0 No comment KCNAB2 100.00 0 No comment KCNB2 100.00 0 No comment KCND3 100.00 0 No comment KCNE1 100.00 0 No comment KCNE2 100.00 0 No comment KCNE3 100.00 0 No comment KCNE4 100.00 0 No comment KCNE5 94.02 0 No comment KCNH2 94.44 0 No comment KCNJ16 100.00 0 No comment KCNJ2 100.00 0 No comment KCNJ5 100.00 0 No comment KCNJ8 100.00 0 No comment KCNK17 100.00 0 No comment KCNK3 95.81 0 No comment KCNQ1 91.07 0 No comment KCNT1 99.74 0 No comment KIF21B 100.00 0 No comment LMNA 99.93 0 No comment MYBPC3 100.00 0 No comment MYH6 100.00 0 No comment MYH7 100.00 0 No comment MYL4 100.00 0 No comment NAA10 96.03 0 No comment NKX2-5 100.00 0 No comment NKX2-6 100.00 0 No comment NOS1AP 100.00 0 No comment NPPA 100.00 0 No comment NUP155 100.00 0 No comment NUP37 100.00 0 No comment PI4KA 99.44 0 No comment PIK3CG 100.00 0 No comment PITX2 100.00 0 No comment PKP2 99.87 0 No comment PLN 100.00 0 No comment PRRX1 100.00 0 No comment RANGRF 100.00 0 No comment RBM20 99.82 0 No comment REM2 100.00 0 No comment RIMS1 99.79 0 No comment RNF207 99.91 0 No comment RYR1 98.38 0 No comment RYR2 100.00 0 No comment SCN10A 100.00 0 No comment SCN1B 94.12 0 No comment SCN2B 100.00 0 No comment SCN3B 100.00 0 No comment SCN4A 100.00 0 No comment SCN4B 100.00 0 No comment SCN5A 100.00 0 No comment SCNN1A 100.00 0 No comment SDHAF3 100.00 0 No comment SEMA3A 100.00 0 No comment SHOX2 99.15 0 No comment SIRT6 100.00 0 No comment SLC2A5 99.60 0 No comment SLC4A3 100.00 0 No comment SLMAP 100.00 0 No comment SNTA1 84.25 0 No comment TBX5 100.00 0 No comment TGFB2 100.00 0 No comment DDR2 97.72 0 No comment TNNI3 100.00 0 No comment TPM1 99.98 0 No comment TRDN 100.00 0 No comment TRPM4 100.00 0 No comment TTN 100.00 0 No comment UBR4 99.99 0 No comment UBR5 100.00 0 No comment WDR26 100.00 0 No comment XIRP1 100.00 0 No comment ZC3HC1 100.00 0 No comment -
cardiopathy panel - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 99.92 1 ACADVL 100.00 1 ACTA2 99.99 1 ACTC1 98.57 1 ACTN2 99.99 1 AGL 97.67 1 AKAP10 99.85 1 AKAP9 99.27 1 ALG10 100.00 1 ANK2 99.98 1 ANKRD1 99.57 1 ATP5F1E 100.00 1 BAG3 100.00 1 BRAF 99.78 1 CACNA1C 100.00 1 CACNA2D1 97.12 1 CACNB2 99.93 1 CALM1 99.86 1 CALM2 99.62 1 CALR3 99.91 1 CASQ2 94.39 1 CAV3 100.00 1 CBL 99.95 1 CFC1 21.93 1 CITED2 100.00 1 COA5 98.65 1 CRELD1 99.99 1 CRYAB 100.00 1 CSRP3 100.00 1 CTF1 100.00 1 CTNNA1 99.98 1 CTNNA3 99.96 1 DCHS1 100.00 1 DES 100.00 1 DMD 99.76 1 DMPK 99.93 1 DNM1L 99.40 1 DOLK 100.00 1 DPP6 99.99 1 DSC3 99.73 1 DSG2 99.96 1 DSP 100.00 1 DTNA 100.00 1 ELN 99.86 1 EMD 99.93 1 EYA4 99.96 1 FBN1 99.85 1 FBXO32 99.99 1 CFH 99.97 1 FHL2 100.00 1 FKRP 100.00 1 FKTN 99.94 1 FLNC 99.99 1 FOXRED1 100.00 1 FXN 99.96 1 GAA 100.00 1 GATA4 99.99 1 GATA5 100.00 1 GATA6 99.90 1 GATAD1 99.79 1 GDF1 100.00 1 GJA1 100.00 1 GJA5 100.00 1 GLA 99.90 1 GLB1 100.00 1 GPD1L 99.97 1 GUSB 95.07 1 HAND1 99.99 1 HCN4 100.00 1 HFE 100.00 1 HRAS 100.00 1 ILK 100.00 1 JAG1 100.00 1 JPH2 99.99 1 JUP 99.94 1 KCNA5 100.00 1 KCND3 99.98 1 KCNE1 87.07 1 KCNE2 99.99 1 KCNE3 100.00 1 KCNE5 99.97 1 KCNH2 99.99 1 KCNJ2 100.00 1 KCNJ5 99.99 1 KCNJ8 100.00 1 KCNQ1 100.00 1 KRAS 99.13 1 LAMA4 99.93 1 LAMP2 98.95 1 LDB3 99.91 1 LMNA 99.96 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MED13L 99.99 1 MIB1 99.91 1 MRPL3 99.94 1 MYBPC3 99.98 1 MYH6 100.00 1 MYH7 99.99 1 MYL2 99.99 1 MYL3 99.99 1 MYLK2 100.00 1 MYOM1 99.98 1 MYOZ1 99.93 1 MYOZ2 99.99 1 MYPN 99.88 1 NEBL 99.86 1 NEXN 97.73 1 NKX2-5 99.75 1 NKX2-6 100.00 1 NOS1AP 99.91 1 NPPA 100.00 1 NRAS 99.66 1 PDLIM3 99.94 1 PKP2 94.27 1 PLN 99.97 1 PRKAG2 99.96 1 PSEN1 100.00 1 PSEN2 99.97 1 PTPN11 99.98 1 RAF1 99.97 1 RANGRF 100.00 1 RBM20 99.99 1 RYR2 99.94 1 SCN1B 99.98 1 SCN2B 100.00 1 SCN3B 100.00 1 SCN4B 100.00 1 SCN5A 100.00 1 SCO2 100.00 1 SDHA 99.98 1 SGCD 100.00 1 SHOC2 99.96 1 SLC25A3 99.79 1 SLMAP 99.55 1 SMAD3 99.99 1 SNTA1 99.99 1 SOD2 99.98 1 SOS1 99.68 1 SPRED1 99.99 1 SYNE1 99.95 1 SYNE2 99.95 1 TAFAZZIN 99.98 1 TBX1 99.95 1 TBX20 99.99 1 TCAP 100.00 1 TGFB2 99.87 1 TGFB3 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TLL1 99.94 1 TMEM43 99.96 1 TMEM70 99.99 1 TMPO 99.81 1 TNNI3 100.00 1 TNNT2 99.87 1 TPM1 99.92 1 TRDN 99.80 1 TRIM63 99.96 1 TRPM4 99.99 1 TSFM 100.00 1 TTN 99.15 1 TTR 100.00 1 TXNRD2 99.97 1 VCL 99.76 1 XK 99.98 1 ZFPM2 100.00 1