Centrum Menselijke Erfelijkheid - KUL | Belgian Genetic Tests database

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Name of the laboratory:	Centrum Menselijke Erfelijkheid - KUL
Abbreviation:	KUL
Institute name:	University Hospitals Leuven-Gasthuisberg
Abbreviation institute:	KUL
RIZIV number:	82499092-996
Address:	Herestraat, 49 bus 606 3000 Leuven Flemish Brabant Belgium
Telephone:	0032 1 634 5903
Fax:	0032 1 634 6060
E-mail:	cme@uzleuven.be info@uzleuven.be
URL:	https://www.uzleuven.be/nl/centrum-menselijke-erfelijkheid https://ng3.economie.fgov.be/NI/belac/medilabs/scope_pdf/215-MED.pdf https://laboboeken.nexuzhealth.com/toc/pboek/internet/GHB%20CME
EQA:	2021 DNA Sequencing – NGS (vGermline) EMQN 2016 DNA Sequencing – NGS (vGermline) EMQN 2018 DNA Sequencing – NGS (vGermline) EMQN 2019 DNA Sequencing – NGS (vGermline) EMQN 2022 DNA Sequencing – NGS (vGermline) EMQN 2015 DNA Sequencing - Sanger EMQN 2016 DNA Sequencing - Sanger EMQN 2017 DNA Sequencing - Sanger EMQN 2018 DNA Sequencing - Sanger EMQN 2019 DNA Sequencing - Sanger EMQN 2022 DNA Sequencing - Sanger EMQN 2022 NIPT for common aneuploidies GenQA (Genomics Quality Assessment)
Created:	09 May 2018 - 08:28
Changed:	06 Nov 2023 - 11:07

Related Genetic Tests

Related Diseases

Related Gene Panels

Inherited Peripheral Neuropathies gene panel (139 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AARS1	100.00	NM_001605.2
ABCD1	100.00	NM_000033.3
ABHD12	98.00	NM_001042472.2
AGTPBP1	99.90	NM_001286715.1
AIFM1	100.00	NM_004208.3
APTX	99.00	NM_175073.2
ARHGEF10	100.00	NM_014629.3
ATL1	100.00	NM_015915.4
ATL3	100.00	NM_015459.4
ATP1A1	100.00	NM_000701.7
ATP7A	100.00	NM_000052.6
BAG3	100.00	NM_004281.3
BICD2	100.00	NM_001003800.1
BSCL2	100.00	NM_032667.6
MTRFR	100.00	NM_152269.4
CCT5	100.00	NM_012073.4
CD59	100.00	NM_203330.2
CNTNAP1	100.00	NM_003632.2
COA7	100.00	NM_023077.2
COX6A1	100.00	NM_004373.3
CTDP1	98.90	NM_004715.4
DCAF8	100.00	NM_015726.3
DCTN1	100.00	NM_004082.4
DGAT2	100.00	NM_032564.4
DHTKD1	99.90	NM_018706.6
DNAJB2	100.00	NM_001039550.1
DNM2	100.00	NM_001005360.2
DNMT1	99.50	NM_001130823.2
DRP2	100.00	NM_001939.2
DST	100.00	NM_001723.5
DYNC1H1	100.00	NM_001376.4
EGR2	100.00	NM_000399.4
ELP1	100.00	NM_003640.4
FBLN5	100.00	NM_006329.3
FBXO38	100.00	NM_030793.4
FGD4	100.00	NM_139241.3
FIG4	100.00	NM_014845.5
FLVCR1	100.00	NM_014053.3
GAN	100.00	NM_022041.3
GARS1	100.00	NM_002047.3
GDAP1	100.00	NM_018972.3
GJB1	100.00	NM_000166.5
GJB3	100.00	NM_024009.2
GLA	100.00	NM_000169.2
GNB4	100.00	NM_021629.3
HADHA	100.00	NM_000182.4
HADHB	100.00	NM_000183.2
HARS1	100.00	NM_002109.5
HINT1	100.00	NM_005340.6
HK1	100.00	NM_000188.2
HOXD10	100.00	NM_002148.3
HSPB1	99.00	NM_001540.4
HSPB3	100.00	NM_006308.2
HSPB8	100.00	NM_014365.2
IARS2	100.00	NM_018060.3
IFRD1	99.90	NM_001550.3
IGHMBP2	100.00	NM_002180.2
INF2	98.80	NM_022489.3
ITPR3	99.50	NM_002224.3
KARS1	100.00	NM_001130089.1
KIF1A	99.90	NM_004321.7
KIF1B	100.00	NM_015074.3
KIF5A	100.00	NM_004984.3
KLHL13	100.00	NM_033495.3
LITAF	100.00	NM_004862.3
LMNA	99.90	NM_170707.3
LRSAM1	100.00	NM_138361.5
MARS1	100.00	NM_004990.3
MCM3AP	100.00	NM_003906.4
MED25	100.00	NM_030973.3
MFN2	100.00	NM_014874.3
MME	100.00	NM_007289.3
MORC2	100.00	NM_001303256.2
MPV17	100.00	NM_002437.4
MPZ	100.00	NM_000530.7
MTMR2	100.00	NM_016156.5
MYH7B	99.80	NM_024729.3
NAGLU	99.70	NM_000263.3
NDRG1	100.00	NM_006096.3
NEFH	99.50	NM_021076.3
NEFL	99.60	NM_006158.4
NGF	100.00	NM_002506.2
NTRK1	100.00	NM_001012331.1
MED12	100.00	NM_015560.2
OPA3	100.00	NM_025136.3
PDK3	100.00	NM_001142386.2
PDXK	100.00	NM_003681.4
PEX1	100.00	NM_000466.2
PEX7	100.00	NM_000288.3
PHYH	100.00	NM_006214.3
PLEKHG5	99.80	NM_020631.4
PMP2	100.00	NM_002677.4
PMP22	100.00	NM_000304.3
PNKP	99.80	NM_007254.3
POLG	100.00	NM_002693.2
PRDM12	90.30	NM_021619.2
PRNP	100.00	NM_000311.4
PRPS1	100.00	NM_002764.3
PRX	100.00	NM_181882.2
RAB7A	100.00	NM_004637.5
REEP1	100.00	NM_022912.2
RETREG1	99.40	NM_001034850.2
SBF1	99.70	NM_002972.3
SBF2	100.00	NM_030962.3
SCN10A	100.00	NM_006514.3
SCN11A	99.80	NM_014139.2
SCN9A	100.00	NM_002977.3
SCO2	100.00	NM_005138.2
SCP2	100.00	NM_002979.4
SEPTIN9	99.20	NM_006640.4
SETX	100.00	NM_015046.6
SGPL1	100.00	NM_003901.3
SH3BP4	100.00	NM_014521.2
SH3TC2	100.00	NM_024577.3
SIGMAR1	100.00	NM_005866.3
SLC12A6	100.00	NM_133647.1
SLC25A46	100.00	NM_138773.3
SLC5A7	100.00	NM_021815.4
SORD	91.20	NM_003104.5
SOX10	100.00	NM_006941.3
SPG11	100.00	NM_025137.3
SPTLC1	100.00	NM_006415.3
SPTLC2	100.00	NM_004863.3
SURF1	99.00	NM_003172.3
TDP1	100.00	NM_018319.3
TECPR2	100.00	NM_014844.4
TFG	100.00	NM_006070.5
TRIM2	100.00	NM_001130067.1
TRPA1	100.00	NM_007332.2
TRPV4	99.90	NM_021625.4
TTR	100.00	NM_000371.3
TUBB3	100.00	NM_006086.3
TWNK	100.00	NM_021830.4
TYMP	100.00	NM_001953.4
VCP	99.90	NM_007126.4
VRK1	100.00	NM_003384.2
WARS1	99.80	NM_004184.3
WNK1	99.80	NM_018979.3
YARS1	100.00	NM_003680.3

Alzheimer erly-onset disease (3 genes) -KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
APP	100.00	1
PSEN1	100.00	1
PSEN2	100.00	1

Amyotrophic lateral sclerosis (5 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
SOD1	100.00	1
TARDBP	100.00	1
FUS	100.00	1
MAPT	100.00	1
GRN	100.00	1

Ataxia (141 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
BEAN1	85.90	NM_001178020.2
KCNC3	88.90	NM_004977.2
SYT14	92.90	NM_001146261.2
PTF1A	94.90	NM_178161.2
ATXN10	95.40	NM_013236.3
ATXN2	96.20	NM_002973.3
FXN	96.40	NM_000144.4
ATXN3	97.20	NM_004993.5
TTC19	98.00	NM_017775.3
ATXN7	98.00	NM_000333.3
ABHD12	98.00	NM_001042472.2
FMR1	98.50	NM_002024.5
DAB1	98.80	NM_021080.4
CACNA2D2	98.90	NM_006030.3
APTX	99.00	NM_175073.2
TBP	99.30	NM_003194.4
CLN6	99.30	NM_017882.2
EIF2B2	99.50	NM_014239.3
CP	99.50	NM_000096.3
DNMT1	99.50	NM_001130823.2
MTPAP	99.50	NM_018109.3
PRRT2	99.60	NM_145239.2
DARS2	99.70	NM_018122.4
PNKP	99.80	NM_007254.3
CLCN2	99.80	NM_004366.5
PNPLA6	99.80	NM_006702.4
CACNA1A	99.80	NM_001127221.1
ATN1	99.80	NM_001007026.1
AFG3L2	99.80	NM_006796.2
AMPD2	99.80	NM_001257360.1
TRPC3	99.80	NM_001130698.1
GRM1	99.90	NM_001278064.1
TPP1	99.90	NM_000391.3
CACNA1G	99.90	NM_018896.4
ATP8A2	99.90	NM_016529.5
NPC1	99.90	NM_000271.4
PRKCG	99.90	NM_002739.4
SPG7	99.90	NM_003119.3
ATXN1	99.90	NM_000332.3
IFRD1	99.90	NM_001550.3
NKX6-2	99.90	NM_177400.2
TK2	99.90	NM_004614.4
TGM6	99.90	NM_198994.2
COX20	99.90	NM_198076.5
SLC9A1	100.00	NM_003047.4
TTPA	100.00	NM_000370.3
ATP2B3	100.00	NM_001001344.2
EIF2B4	100.00	NM_015636.3
PEX7	100.00	NM_000288.3
ANO10	100.00	NM_018075.4
SPTBN2	100.00	NM_006946.3
ITPR1	100.00	NM_002222.5
RUBCN	100.00	NM_001145642.4
PEX10	100.00	NM_153818.1
TMEM240	100.00	NM_001114748.1
WDR81	100.00	NM_001163809.1
CACNB4	100.00	NM_000726.4
ATM	100.00	NM_000051.3
VWA3B	100.00	NM_144992.4
AP1S2	100.00	NM_003916.4
SYNE1	100.00	NM_033071.3
SCYL1	100.00	NM_020680.3
STUB1	100.00	NM_005861.3
SLC1A3	100.00	NM_004172.4
LAMA1	100.00	NM_005559.3
NOP56	100.00	NM_006392.3
CYP27A1	100.00	NM_000784.3
KCNA1	100.00	NM_000217.2
SETX	100.00	NM_015046.6
CLN5	100.00	NM_006493.2
EIF2B3	100.00	NM_020365.4
PUM1	100.00	NM_001020658.1
MRE11	100.00	NM_005591.3
WWOX	100.00	NM_016373.3
GFAP	100.00	NM_002055.4
VLDLR	100.00	NM_003383.4
GBA2	100.00	NM_020944.2
KIF1C	100.00	NM_006612.5
CWF19L1	100.00	NM_018294.5
CCDC88C	100.00	NM_001080414.3
SACS	100.00	NM_014363.5
AAAS	100.00	NM_015665.5
ABCB7	100.00	NM_004299.5
ACO2	100.00	NM_001098.2
ARSA	100.00	NM_000487.5
ATCAY	100.00	NM_033064.4
ATG5	100.00	NM_004849.3
ATP1A3	100.00	NM_152296.5
CA8	100.00	NM_004056.5
CAPN1	100.00	NM_001198868.1
COQ8A	100.00	NM_020247.4
DNAJC19	100.00	NM_145261.3
DNAJC3	100.00	NM_006260.4
DNAJC5	100.00	NM_025219.2
EEF2	100.00	NM_001961.3
EIF2B1	100.00	NM_001414.3
EIF2B5	100.00	NM_003907.2
ELOVL4	100.00	NM_022726.3
ELOVL5	100.00	NM_021814.4
EXOSC3	100.00	NM_016042.3
FGF14	100.00	NM_004115.3
FLVCR1	100.00	NM_014053.3
FOLR1	100.00	NM_016725.2
GOSR2	100.00	NM_004287.4
GRID2	100.00	NM_001510.3
HEXA	100.00	NM_000520.5
HEXB	100.00	NM_000521.3
KCND3	100.00	NM_004980.4
KCNJ10	100.00	NM_002241.4
MARS2	100.00	NM_138395.3
MME	100.00	NM_007289.3
MTTP	100.00	NM_000253.3
NPC2	100.00	NM_006432.3
OPA1	100.00	NM_015560.2
PDYN	100.00	NM_024411.4
PHYH	100.00	NM_006214.3
PIK3R5	100.00	NM_001142633.2
PMM2	100.00	NM_000303.2
PMPCA	100.00	NM_015160.2
POLG	100.00	NM_002693.2
POLR3A	100.00	NM_007055.3
PPP2R2B	100.00	NM_181678.2
PRICKLE1	100.00	NM_153026.2
RNF170	100.00	NM_001160223.1
RNF216	100.00	NM_207111.3
SAMD9L	100.00	NM_152703.4
SEPSECS	100.00	NM_016955.3
SIL1	100.00	NM_022464.4
SLC52A2	100.00	NM_024531.4
SNX14	100.00	NM_153816.5
SRD5A3	100.00	NM_024592.4
TDP1	100.00	NM_018319.3
TDP2	100.00	NM_016614.2
TTBK2	100.00	NM_173500.3
TUBB4A	100.00	NM_006087.3
TWNK	100.00	NM_021830.4
VAMP1	100.00	NM_014231.4
WFS1	100.00	NM_006005.3
XRCC1	100.00	NM_006297.2
ZNF592	100.00	NM_014630.2
ATXN8OS	100.00	NG_016173.1

Breast/ ovarian cancer (15 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
RAD51C	100.00	1
RAD51D	100.00	1
BRCA1	100.00	1
BRCA2	100.00	1
TP53	100.00	1
CHEK2	100.00	1
MLH1	100.00	1
MSH2	100.00	1
MSH6	100.00	1
BRIP1	100.00	1
ATM	100.00	1
PALB2	100.00	1
CDH1	100.00	1
BARD1	100.00	1
PTEN	100.00	1

Cardiopathies, hereditary (102 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ABCC9	95.00	NM_005691.4 / interpretable range CS1>95%
ACTC1	95.00	NM_005159.5 / interpretable range CS1>95%
ACTN2	95.00	NM_001103.4 / nterpretable range CS1>95%
AKAP9	95.00	NM_005751.5 /interpretable range CS1>95%
ANK2	95.00	NM_001148.6 / interpretable range CS1>95%
ANKRD1	95.00	NM_014391.3 / interpretable range CS1>95%
BAG3	95.00	NM_004281.4 / interpretable range CS1>95%
CACNA1C	95.00	NM_000719.7 / interpretable range CS1>95%
CACNA1D	95.00	NM_000720.4 / interpretable range CS1>95%
CACNA2D1	95.00	NM_000722.4 / interpretable range CS1>95%
CACNB2	95.00	NM_201590.3 / interpretable range CS1>95%
CALM1	95.00	NM_006888.6 / interpretable range CS1>95%
CALM2	95.00	NM_001743.6 / interpretable range CS1>95%
CALM3	95.00	NM_005184.4 / interpretable range CS1>95%
CALR3	95.00	NM_145046.5 / interpretable range CS1>95%
CASQ2	95.00	NM_001232.4 / interpretable range CS1>95%
CAV3	95.00	NM_033337.3 / interpretable range CS1>95%
CDH2	95.00	NM_001792.5 / interpretable range CS1>95%
CRYAB	95.00	NM_001885.3 / interpretable range CS1>95%
CSRP3	95.00	NM_003476.5 / interpretable range CS1>95%
CTNNA3	95.00	NM_013266.4 / interpretable range CS1>95%
DES	95.00	NM_001927.4 / interpretable range CS1>95%
DSC3	95.00	NM_024422.6 / interpretable range CS1>95%
DSG2	95.00	NM_001943.5 / interpretable range CS1>95%
DSP	95.00	NM_004415.4 / interpretable range CS1>95%
DTNA	95.00	NM_001390.4 / interpretable range CS1>95%
CFH	95.00	NM_001449.5 / interpretable range CS1>95%
FHOD3	95.00	NM_025135.5 / interpretable range CS1>95%
FKTN	95.00	NM_001079802.2 / interpretable range CS1>95%
FLNC	95.00	NM_001458.5 / interpretable range CS1>95%
GJA5	95.00	NM_005266.7 / interpretable range CS1>95%
GLA	95.00	NM_000169.3 / interpretable range CS1>95%
GPD1L	95.00	NM_015141.4 / interpretable range CS1>95%
HCN4	95.00	NM_005477.3 / interpretable range CS1>95%
JPH2	95.00	NM_020433.5 / interpretable range CS1>95%
JUP	95.00	NM_002230.4 / interpretable range CS1>95%
KCNA5	95.00	NM_002234.4 / interpretable range CS1>95%
KCND2	95.00	NM_012281.3 / interpretable range CS1>95%
KCND3	95.00	NM_004980.5 / interpretable range CS1>95%
KCNE1	95.00	NM_000219.6 / interpretable range CS1>95%
KCNE2	95.00	NM_172201.2 / interpretable range CS1>95%
KCNE3	95.00	NM_005472.5 / interpretable range CS1>95%
KCNE5	95.00	NM_012282.4 / interpretable range CS1>95%
KCNH2	95.00	NM_000238.4 / interpretable range CS1>95%
KCNJ2	95.00	NM_000891.3 / interpretable range CS1>95%
KCNJ5	95.00	NM_000890.5 / interpretable range CS1>95%
KCNJ8	95.00	NM_004982.4 / interpretable range CS1>95%
KCNQ1	95.00	NM_000218.3 / interpretable range CS1>95%
LAMA4	95.00	NM_002290.5 / interpretable range CS1>95%
LAMP2	95.00	NM_002294.3 / interpretable range CS1>95%
LDB3	95.00	NM_001080116.1 / interpretable range CS1>95%
LMNA	95.00	NM_170707.4 / interpretable range CS1>95%
MIB1	95.00	NM_020774.4 / interpretable range CS1>95%
MYBPC3	95.00	NM_000256.3 / interpretable range CS1>95% / MLPA only in de frame of "Familial hypertrophic cardiomyopathy"
MYH6	95.00	NM_002471.4 / interpretable range CS1>95%
MYH7	95.00	NM_000257.4 / interpretable range CS1>95%
MYL2	95.00	NM_000432.4 / interpretable range CS1>95%
MYL3	95.00	NM_000258.3 / interpretable range CS1>95%
MYLK2	95.00	NM_033118.4 / interpretable range CS1>95%
MYOZ2	95.00	NM_016599.5 / interpretable range CS1>95%
MYPN	95.00	NM_032578.4 / interpretable range CS1>95%
NEXN	95.00	NM_144573.4 / interpretable range CS1>95%
NKX2-5	95.00	NM_004387.4 / interpretable range CS1>95%
NOS1AP	95.00	NM_014697.3 / interpretable range CS1>95%
NPPA	95.00	NM_006172.4 / interpretable range CS1>95%
NUP155	95.00	NM_153485.3 / interpretable range CS1>95%
PITX2	95.00	NM_153427.2 / interpretable range CS1>95%
PKP2	95.00	NM_004572.4 / interpretable range CS1>95%
PLN	95.00	NM_002667.5 / interpretable range CS1>95%
PRKAG2	95.00	NM_016203.4 / interpretable range CS1>95%
RBM20	95.00	NM_001134363.3 / interpretable range CS1>95%
RYR2	95.00	NM_001035.3 / interpretable range CS1>95%
SLC4A3	95.00	NM_201574.2 / interpretable range CS1>95%
SCN10A	95.00	NM_006514.4 / interpretable range CS1>95%
SCN1B	95.00	NM_001037.5 / interpretable range CS1>95%
SCN2B	95.00	NM_004588.5 / interpretable range CS1>95%
SCN3B	95.00	NM_018400.4 / interpretable range CS1>95%
SCN4B	95.00	NM_174934.4 / interpretable range CS1>95%
SCN5A	95.00	NM_198056.3 / interpretable range CS1>95%
SEMA3A	95.00	NM_006080.3 / interpretable range CS1>95%
SGCD	95.00	NM_000337.6 / interpretable range CS1>95%
SNTA1	95.00	NM_003098.3 / interpretable range CS1>95%
WWTR1	95.00	NM_000116.5 / interpretable range CS1>95%
TBX20	95.00	NM_001077653.2 / interpretable range CS1>95%
TCAP	95.00	NM_003673.4 / interpretable range CS1>95%
TECRL	95.00	NM_001010874.5 / interpretable range CS1>95%
TGFB3	95.00	NM_003239.5 / interpretable range CS1>95%
TJP1	95.00	NM_003257.5 / interpretable range CS1>95%
TMEM43	95.00	NM_024334.3 / interpretable range CS1>95%
TMPO	95.00	NM_003276.2 / interpretable range CS1>95%
TNNI3	95.00	NM_000363.5 / interpretable range CS1>95%
TNNI3K	95.00	NM_015978.3 / interpretable range CS1>95%
TNNT2	95.00	NM_001001430.3 / interpretable range CS1>95%
TPM1	95.00	NM_001018005.2 / interpretable range CS1>95%
TRDN	95.00	NM_006073.4 / interpretable range CS1>95%
TRIM63	95.00	NM_032588.4 / interpretable range CS1>95%
TRPM4	95.00	NM_017636.4 / interpretable range CS1>95%
TTN	95.00	NM_001267550.1 / interpretable range CS1>95%
TTR	95.00	NM_000371.4 / interpretable range CS1>95%
TXNRD2	95.00	NM_006440.5 / interpretable range CS1>95%
VCL	95.00	NM_014000.3 / interpretable range CS1>95%

Colorectal cancer/polyposis (18 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
MLH1	100.00	1
MSH2	100.00	1
MSH6	100.00	1
PMS2	100.00	1
EPCAM	100.00	1
POLD1	100.00	1
POLE	100.00	1
CHEK2	100.00	1
TP53	100.00	1
APC	100.00	1
STK11	100.00	1
BMPR1A	100.00	1
SMAD4	100.00	1
PTEN	100.00	1
RNF43	100.00	1
NTHL1	100.00	1
MSH3	100.00	1
MUTYH	100.00	1

Congenital disorder of glycosylation (3 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
PMM2	95.00	interpretable range CS1>95%
MPI	95.00	interpretable range CS1>95%
ALG6	95.00	interpretable range CS1>95%

Congenital disorders of glycosylation (79 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ALDOB	95.00	NM_000035.3/ interpretable range CS1>95%
ALG1	95.00	NM_019109.4/ interpretable range CS1>95%
ALG10	95.00	NM_032834.3/ interpretable range CS1>95%
ALG11	95.00	NM_001004127.2/ interpretable range CS1>95%
ALG12	95.00	NM_024105.3/ interpretable range CS1>95%
ALG13	95.00	NM_001099922.2/ interpretable range CS1>95%
ALG14	95.00	NM_144988.3/ interpretable range CS1>95%
ALG2	95.00	NM_033087.3/ interpretable range CS1>95%
ALG3	95.00	NM_005787.5/ interpretable range CS1>95%
ALG5	95.00	NM_013338.4/ interpretable range CS1>95%
ALG6	95.00	NM_013339.3/ interpretable range CS1>95%
ALG8	95.00	NM_024079.4/ interpretable range CS1>95%
ALG9	95.00	NM_024740.2/ interpretable range CS1>95%
ATP6V0A2	95.00	NM_012463.3/ interpretable range CS1>95%
ATP9B	95.00	NM_198531.4/ interpretable range CS1>95%
B3GLCT	95.00	NM_194318.3/ interpretable range CS1>95%
B4GALT1	95.00	NM_001497.3/ interpretable range CS1>95%
COG1	95.00	NM_018714.2/ interpretable range CS1>95%
COG2	95.00	NM_007357.2/ interpretable range CS1>95%
COG3	95.00	NM_031431.3/ interpretable range CS1>95%
COG4	95.00	NM_015386.2/ interpretable range CS1>95%
COG5	95.00	NM_006348.3/ interpretable range CS1>95%
COG6	95.00	NM_020751.2/ interpretable range CS1>95%
COG7	95.00	NM_153603.3/ interpretable range CS1>95%
COG8	95.00	NM_032382.4/ interpretable range CS1>95%
DAD1	95.00	NM_001344.3/ interpretable range CS1>95%
DDOST	95.00	NM_005216.4/ interpretable range CS1>95%
DHDDS	95.00	NM_024887.3/ interpretable range CS1>95%
DOLK	95.00	NM_014908.3/ interpretable range CS1>95%
DPAGT1	95.00	NM_001382.3/ interpretable range CS1>95%
DPM1	95.00	NM_003859.2/ interpretable range CS1>95%
DPM2	95.00	NM_003863.3/ interpretable range CS1>95%
DPM3	95.00	NM_153741.1/ interpretable range CS1>95%
FKRP	95.00	NM_024301.4/ interpretable range CS1>95%
FKTN	95.00	NM_001079802.1/ interpretable range CS1>95%
FUT1	95.00	NM_000148.3/ interpretable range CS1>95%
GALE	95.00	NM_000403.3/ interpretable range CS1>95%
GALK1	95.00	NM_000154.1/ interpretable range CS1>95%
GALT	95.00	NM_000155.3/ interpretable range CS1>95%
GFPT1	95.00	NM_002056.3/ interpretable range CS1>95%
GMPPA	95.00	NM_205847.2/ interpretable range CS1>95%
GMPPB	95.00	NM_013334.3/ interpretable range CS1>95%
GNE	95.00	NM_001128227.2/ interpretable range CS1>95%
LARGE1	95.00	NM_004737.6/ interpretable range CS1>95%
MAGT1	95.00	NM_032121.5/ interpretable range CS1>95%
MAN1B1	95.00	NM_016219.4/ interpretable range CS1>95%
MGAT1	95.00	NM_001114618.1/ interpretable range CS1>95%
MGAT2	95.00	NM_002408.3/ interpretable range CS1>95%
MOGS	95.00	NM_006302.2/ interpretable range CS1>95%
MPDU1	95.00	NM_004870.3/ interpretable range CS1>95%
MPI	95.00	NM_002435.2/ interpretable range CS1>95%
OST4	95.00	NM_001134693.1/ interpretable range CS1>95%
PGM1	95.00	NM_002633.2/ interpretable range CS1>95%
PGM2	95.00	NM_018290.3/ interpretable range CS1>95%
PGM3	95.00	NM_001199917.1/ interpretable range CS1>95%
PIGA	95.00	NM_002641.3/ interpretable range CS1>95%
PIGL	95.00	NM_004278.3/ interpretable range CS1>95%
PIGM	95.00	NM_145167.2/ interpretable range CS1>95%
PIGN	95.00	NM_176787.4/ interpretable range CS1>95%
PIGV	95.00	NM_017837.3/ interpretable range CS1>95%
PMM2	95.00	NM_000303.2/ interpretable range CS1>95%
POMGNT1	95.00	NM_017739.3/ interpretable range CS1>95%
POMT1	95.00	NM_007171.3/ interpretable range CS1>95%
POMT2	95.00	NM_013382.5/ interpretable range CS1>95%
RFT1	95.00	NM_052859.3/ interpretable range CS1>95%
RPN1	95.00	NM_002950.3/ interpretable range CS1>95%
RPN2	95.00	NM_002951.4/ interpretable range CS1>95%
SEC23B	95.00	NM_032985.5/ interpretable range CS1>95%
SLC35A1	95.00	NM_006416.4/ interpretable range CS1>95%
SLC35A3	95.00	NM_012243.2/ interpretable range CS1>95%
SLC35C1	95.00	NM_018389.4/ interpretable range CS1>95%
SLC35D1	95.00	NM_015139.2/ interpretable range CS1>95%
SRD5A3	95.00	NM_024592.4/ interpretable range CS1>95%
ST3GAL3	95.00	NM_174963.4/ interpretable range CS1>95%
ST3GAL5	95.00	NM_003896.3/ interpretable range CS1>95%
STT3A	95.00	NM_152713.4/ interpretable range CS1>95%
STT3B	95.00	NM_178862.2/ interpretable range CS1>95%
TMEM165	95.00	NM_018475.4/ interpretable range CS1>95%
TUSC3	95.00	NM_006765.3/ interpretable range CS1>95%

Constitutional Mismatch Repair Deficiency Syndrome (4 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
MLH1	100.00	1
MSH6	100.00	1
PMS2	100.00	1
MSH2	100.00	1

Constitutional Mismatch Repair Deficiency Syndrome / Bloom syndrome - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
MLH1	100.00	1
MSH6	100.00	1
PMS2	100.00	1
BLM	100.00	1
MSH2	100.00	1

Cowden (3 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
PTEN	100.00	1
SDHB	100.00	1
SDHD	100.00	1

Craniosynostosis (32 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ASXL1	95.00	NM_015338.6/ interpretable range CS1>95%
COLEC10	95.00	NM_006438.5/ interpretable range CS1>95%
COLEC11	95.00	NM_024027.5/ interpretable range CS1>95%
CYP26B1	95.00	NM_019885.4/ interpretable range CS1>95%
EFNB1	95.00	NM_004429.5/ interpretable range CS1>95%
ERF	95.00	NM_006494.4/ interpretable range CS1>95%
FAM111A	95.00	NM_022074.4/ interpretable range CS1>95%
FGFR1	95.00	NM_023110.3/ interpretable range CS1>95%
FGFR2	95.00	NM_000141.5/ interpretable range CS1>95%
FGFR3	95.00	NM_000142.5/ interpretable range CS1>95%
HNRNPK	95.00	NM_002140.5/ interpretable range CS1>95%
IL11RA	95.00	NM_001142784.3/ interpretable range CS1>95%
IL6ST	95.00	NM_002184.4/ interpretable range CS1>95%
LTBP1	95.00	NM_206943.4/ interpretable range CS1>95%
MASP1	95.00	NM_139125.4/ interpretable range CS1>95%
MEGF8	95.00	NM_001410.3/ interpretable range CS1>95%
MSX2	95.00	NM_002449.5/ interpretable range CS1>95%
POR	95.00	NM_001367562.3/ interpretable range CS1>95%
RAB23	95.00	RAB23 NM_183227.3/ interpretable range CS1>95%
RECQL4	95.00	NM_004260.4/ interpretable range CS1>95%
RUNX2	95.00	NM_001024630.4/ interpretable range CS1>95%
SIX1	95.00	NM_005982.4/ interpretable range CS1>95%
SKI	95.00	SKI NM_003036.4/ interpretable range CS1>95%
SLC25A24	95.00	NM_013386.5/ interpretable range CS1>95%
SMAD6	95.00	NM_005585.5/ interpretable range CS1>95%
SMO	95.00	NM_005631.5/ interpretable range CS1>95%
TCF12	95.00	NM_207036.2/ interpretable range CS1>95%
TFAP2B	95.00	NM_003221.4/ interpretable range CS1>95%
TRAF7	95.00	NM_032271.3/ interpretable range CS1>95%
TWIST1	95.00	NM_000474.4/ interpretable range CS1>95%
ZIC1	95.00	NM_003412.4/ interpretable range CS1>95%
ZNF462	95.00	NM_021224.6/ interpretable range CS1>95%

Developmental disorders: intellectual disability and multiple congenital anomalies (gene panel) - KUL

Dyskeratosis Congenita (18 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ACD	95.00	NM_001082486.1/ interpretable range CS1>95%
CTC1	95.00	NM_025099.5/ interpretable range CS1>95%
DKC1	95.00	NM_001363.4/ interpretable range CS1>95%
GRHL2	95.00	NM_024915.3/ interpretable range CS1>95%
LIG4	95.00	NM_002312.3/ interpretable range CS1>95%
TNIP1	95.00	NM_138386.2/ interpretable range CS1>95%
NHP2	95.00	NM_017838.3/ interpretable range CS1>95%
NOP10	95.00	NM_018648.3/ interpretable range CS1>95%
PARN	95.00	NM_002582.3/ interpretable range CS1>95%
POT1	95.00	NM_015450.2/ interpretable range CS1>95%
RTEL1	95.00	NM_032957.4/ interpretable range CS1>95%
STN1	95.00	NM_024928.4/ interpretable range CS1>95%
TERC	95.00	NR_001566.1/ interpretable range CS1>95%
TERT	95.00	NM_198253.2/ interpretable range CS1>90%
TINF2	95.00	NM_001099274.1/ interpretable range CS1>95%
USB1	95.00	NM_024598.3/ interpretable range CS1>95%
WRAP53	95.00	NM_018081.2/ interpretable range CS1>95%
NAF1	95.00	NM_138386.3/ interpretable range CS1>95%

Dystonia (68 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
PRKRA	93.20	NM_003690.4
ARX	96.10	NM_139058.2
CACNA1B	97.90	NM_000718.3
KMT2B	98.40	NM_014727.2
ADCY5	98.60	NM_183357.2
CIZ1	98.80	NM_012127.2
TH	99.10	NM_199292.2
SMPD1	99.30	NM_000543.4
CP	99.50	NM_000096.3
PRRT2	99.60	NM_145239.2
SUCLG1	99.60	NM_003849.3
PLA2G6	99.70	NM_003560.3
TBCD	99.70	NM_005993.4
ANO3	99.70	NM_031418.3
TOR1A	99.70	NM_000113.2
GCDH	99.90	NM_000159.3
NPC1	99.90	NM_000271.4
FA2H	99.90	NM_024306.4
TAF1	99.90	NM_004606.4
SPR	99.90	NM_003124.4
PTS	100.00	NM_000317.2
DCAF17	100.00	NM_025000.3
ATP7B	100.00	NM_000053.3
SLC39A14	100.00	NM_015359.5
C19ORF12	100.00	NM_001031726.3
RELN	100.00	NM_005045.3
ATM	100.00	NM_000051.3
CACNA1A	100.00	NM_002143.2
CYP27A1	100.00	NM_000784.3
KCTD17	100.00	NM_001282684.1
NKX2-1	100.00	NM_001079668.2
PANK2	100.00	NM_153638.3
VPS13A	100.00	NM_033305.2
COL6A3	100.00	NM_004369.3
ACTB	100.00	NM_001101.4
ARSA	100.00	NM_000487.5
ATP1A3	100.00	NM_152296.5
AUH	100.00	NM_001698.2
BCAP31	100.00	NM_001139441.1
COASY	100.00	NM_025233.6
DDC	100.00	NM_000790.3
DRD2	100.00	NM_000795.3
FTL	100.00	NM_000146.3
GCH1	100.00	NM_000161.2
GLB1	100.00	NM_000404.3
GNAL	100.00	NM_001142339.2
GNAO1	100.00	NM_020988.2
GNB1	100.00	NM_002074.4
HEXA	100.00	NM_000520.5
HEXB	100.00	NM_000521.3
HPRT1	100.00	NM_000194.2
KCNMA1	100.00	NM_002247.3
MECR	100.00	NM_016011.4
MR1	100.00	NM_001194999.1
NPC2	100.00	NM_006432.3
PNKD	100.00	NM_015488.4
SERAC1	100.00	NM_032861.3
SGCE	100.00	NM_003919.2
SLC18A2	100.00	NM_003054.4
SLC19A3	100.00	NM_025243.3
SLC2A1	100.00	NM_006516.2
SLC30A10	100.00	NM_018713.2
SLC6A3	100.00	NM_001044.4
THAP1	100.00	NM_018105.2
TIMM8A	100.00	NM_004085.3
TUBB4A	100.00	NM_006087.3
VAC14	100.00	NM_018052.4
WDR45	100.00	NM_007075.3

Endometrial Cancer (7 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
MLH1	100.00	1
MSH6	100.00	1
PMS2	100.00	1
PTEN	100.00	1
POLD1	100.00	1
POLE	100.00	1
MSH2	100.00	1

Epidermolysis bullosa and bladder diseases (60 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ADAMTS2	95.00	NM_014244.5/ interpretable range CS1>95%
ATP2A2	95.00	NM_001681.4/ interpretable range CS1>95%
ATP2C1	95.00	NM_014382.5/ interpretable range CS1>95%
CAST	95.00	NM_001042440.5/ interpretable range CS1>95%
CD151	95.00	NM_004357.5/ interpretable range CS1>95%
CDSN	95.00	NM_001264.5/ interpretable range CS1>95%
CHST14	95.00	NM_130468.4/ interpretable range CS1>95%
CHST8	95.00	NM_001127896.2/ interpretable range CS1>95%
COL17A1	95.00	NM_000494.4/ interpretable range CS1>95%
COL5A1	95.00	NM_000093.5/ interpretable range CS1>95%
COL5A2	95.00	NM_000393.5/ interpretable range CS1>95%
COL7A1	95.00	NM_000094.4/ interpretable range CS1>95%
CSTA	95.00	NM_005213.4/ interpretable range CS1>95%
CSTB	95.00	NM_000100.4/ interpretable range CS1>95%
DSC3	95.00	NM_024423.4/ interpretable range CS1>95%
DSG1	95.00	NM_001942.4/ interpretable range CS1>95%
DSG2	95.00	NM_001943.5/ interpretable range CS1>95%
DSG3	95.00	NM_001944.3/ interpretable range CS1>95%
DSG4	95.00	NM_177986.5/ interpretable range CS1>95%
DSP	95.00	NM_004415.4/ interpretable range CS1>95%
DST	95.00	NM_001723.7/ interpretable range CS1>95%
EXPH5	95.00	NM_015065.3/ interpretable range CS1>95%
FERMT1	95.00	NM_017671.5/ interpretable range CS1>95%
FLG2	95.00	NM_001014342.3/ interpretable range CS1>95%
GJB2	95.00	NM_004004.6/ interpretable range CS1>95%
GRIP1	95.00	NM_021150.4/ interpretable range CS1>95%
IKBKG	95.00	NM_001099857.5/ interpretable range CS1>95%
ITGA3	95.00	NM_002204.4/ interpretable range CS1>95%
ITGA6	95.00	NM_000210.4/ interpretable range CS1>95%
ITGB4	95.00	NM_001005731.3/ interpretable range CS1>95%
JUP	95.00	NM_002230.4/ interpretable range CS1>95%
KLHL24	95.00	NM_017644.3/ interpretable range CS1>95%
KRT1	95.00	NM_006121.4/ interpretable range CS1>95%
KRT10	95.00	NM_000421.5/ interpretable range CS1>95%
KRT14	95.00	NM_000526.5/ interpretable range CS1>95%
KRT16	95.00	NM_005557.4/ interpretable range CS1>95%
KRT17	95.00	NM_000422.3/ interpretable range CS1>95%
KRT2	95.00	NM_000423.3/ interpretable range CS1>95%
KRT5	95.00	NM_000424.4/ interpretable range CS1>95%
KRT6A	95.00	NM_005554.4/ interpretable range CS1>95%
KRT6B	95.00	NM_005555.4/ interpretable range CS1>95%
KRT6C	95.00	NM_173086.5/ interpretable range CS1>95%
KRT9	95.00	NM_000226.4/ interpretable range CS1>95%
LAMA3	95.00	NM_000227.6/ interpretable range CS1>95%
LAMB3	95.00	NM_000228.3/ interpretable range CS1>95%
LAMC2	95.00	NM_005562.3/ interpretable range CS1>95%
MMP1	95.00	NM_002421.4/ interpretable range CS1>95%
NID1	95.00	NM_002508.3/ interpretable range CS1>95%
PKP1	95.00	NM_001005337.3/ interpretable range CS1>95%
PLEC	95.00	NM_000445.5/ interpretable range CS1>95%
PLOD3	95.00	NM_001084.5/ interpretable range CS1>95%
SERPINB8	95.00	NM_198833.2/ interpretable range CS1>95%
SLC39A4	95.00	NM_130849.4/ interpretable range CS1>95%
SPINK5	95.00	NM_006846.4/ interpretable range CS1>95%
TGM5	95.00	NM_201631.4/ interpretable range CS1>95%
TP63	95.00	NM_003722.5/ interpretable range CS1>95%
UROD	95.00	NM_000374.5/ interpretable range CS1>95%
UROS	95.00	NM_000375.3/ interpretable range CS1>95%
WNT10A	95.00	NM_025216.3/ interpretable range CS1>95%

Familial Hypercholesterolemia panel (4 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
LDLR	100.00	1
APOB	100.00	1
APOE	100.00	1
PCSK9	100.00	1

Familial hemiplegic Migraine (8 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
CACNA1A	100.00	1	NM001127221.1/ Core gene
ATP1A2	100.00	1	NM000702.3/ Core gene
SCN1A	100.00	1	NM_001165963.2/ Core gene
ATP1A3	100.00	1	NM152296.5/ gene that may be associated with an inherited form of Familia Hemiplegic Migraine (FHM)
KCNK18	100.00	1	NM181840.1/ gene that may be associated with an inherited form of Familia Hemiplegic Migraine (FHM)
PRRT2	100.00	1	NM145239.2/ gene that may be associated with an inherited form of Familia Hemiplegic Migraine (FHM)
SLC1A3	100.00	1	NM004172.4/ gene that may be associated with an inherited form of Familia Hemiplegic Migraine (FHM)
SLC2A1	100.00	1	NM_006516.2/ gene that may be associated with an inherited form of Familia Hemiplegic Migraine (FHM)

Frontotemporal lobar degeneration / Amyotrophy Lateral Sclerosis (4 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
GRN	100.00	1
MAPT	100.00	1
FUS	100.00	1
TARDBP	100.00	1

Gastric cancer (10 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
APC	100.00	1
CDH1	100.00	1
TP53	100.00	1
BRCA1	100.00	1
BRCA2	100.00	1
EPCAM	100.00	1
MLH1	100.00	1
MSH2	100.00	1
MSH6	100.00	1
PMS2	100.00	1

Genetic disorders of Calcium and Phosphate metabolism (31 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
AIRE	95.00	NM_000383.4/ interpretable range CS1>95%
ALPL	95.00	NM_000478.6/ interpretable range CS1>95%
AP2S1	95.00	NM_004069.6/ interpretable range CS1>95%
CASR	95.00	NM_000388.4/ interpretable range CS1>95%
CDC73	95.00	NM_024529.5/ interpretable range CS1>95%
CDKN1B	95.00	NM_004064.5/ interpretable range CS1>95%
CLCN5	95.00	NM_000084.5/ interpretable range CS1>95%
CYP27B1	95.00	NM_000785.4/ interpretable range CS1>95%
CYP2R1	95.00	NM_024514.5/ interpretable range CS1>95%
DMP1	95.00	NM_004407.4/ interpretable range CS1>95%
ENPP1	95.00	NM_006208.3/ interpretable range CS1>95%
FAM20C	95.00	NM_020223.4/ interpretable range CS1>95%
FGF23	95.00	NM_020638.3/ interpretable range CS1>95%
GATA3	95.00	NM_001002295.2/ interpretable range CS1>95%
GCM2	95.00	NM_004752.4/ interpretable range CS1>95%
GNA11	95.00	NM_002067.5/ interpretable range CS1>95%
GNAS	95.00	NM_000516.7/ interpretable range CS1>95%
HADHA	95.00	NM_000182.5/ interpretable range CS1>95%
HADHB	95.00	NM_000183.3/ interpretable range CS1>95%
MEN1	95.00	NM_130799.3/ interpretable range CS1>95%
OCRL	95.00	NM_000276.4/ interpretable range CS1>95%
PHEX	95.00	NM_000444.6/ interpretable range CS1>95%
PTH	95.00	NM_000315.4/ interpretable range CS1>95%
PTH1R	95.00	NM_000316.3/ interpretable range CS1>95%
RET	95.00	NM_020975.6/ interpretable range CS1>95%
SLC34A1	95.00	NM_003052.5/ interpretable range CS1>95%
SLC34A3	95.00	NM_080877.3/ interpretable range CS1>95%
NHERF1	95.00	NM_004252.5/ interpretable range CS1>95%
STX16	95.00	NM_001001433.3/ interpretable range CS1>95%
TBCE	95.00	NM_003193.5/ interpretable range CS1>95%
VDR	95.00	NM_001017535.2/ interpretable range CS1>95%

Gorlin syndrome (2 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
PTCH1	100.00	1
SUFU	100.00	1

Hereditary Spastic Paraplegia (94 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ABCD1	95.00	interpretable range CS1>95%
ADAR	95.00	interpretable range CS1>95%
AFG3L2	95.00	interpretable range CS1>95%
AIMP1	95.00	interpretable range CS1>95%
ALDH18A1	95.00	interpretable range CS1>95%
ALDH3A2	95.00	interpretable range CS1>95%
ALS2	95.00	interpretable range CS1>95%
AMPD2	95.00	interpretable range CS1>95%
AP4B1	95.00	interpretable range CS1>95%
AP4E1	95.00	interpretable range CS1>95%
AP4M1	95.00	interpretable range CS1>95%
AP4S1	95.00	interpretable range CS1>95%
AP5Z1	95.00	interpretable range CS1>95%
ARL6IP1	95.00	interpretable range CS1>95%
ARSI	95.00	interpretable range CS1>95%
ATL1	95.00	interpretable range CS1>95%
ATP13A2	95.00	interpretable range CS1>95%
B4GALNT1	95.00	interpretable range CS1>95%
BICD2	95.00	interpretable range CS1>95%
BSCL2	95.00	interpretable range CS1>95%
MTRFR	95.00	interpretable range CS1>95%
C19ORF12	95.00	interpretable range CS1>95%
CAPN1	95.00	interpretable range CS1>95%
CCT5	95.00	interpretable range CS1>95%
CPT1C	95.00	interpretable range CS1>95%
CYP27A1	95.00	interpretable range CS1>95%
CYP2U1	95.00	interpretable range CS1>95%
CYP7B1	95.00	interpretable range CS1>95%
DARS1	95.00	interpretable range CS1>95%
DDHD1	95.00	interpretable range CS1>95%
DDHD2	95.00	interpretable range CS1>95%
DSTYK	95.00	interpretable range CS1>95%
ENTPD1	95.00	interpretable range CS1>95%
ERLIN1	95.00	interpretable range CS1>95%
ERLIN2	95.00	interpretable range CS1>95%
FA2H	95.00	interpretable range CS1>95%
FARS2	95.00	interpretable range CS1>95%
FLRT1	95.00	interpretable range CS1>95%
GBA2	95.00	interpretable range CS1>95%
GCH1	95.00	interpretable range CS1>95%
GJC2	95.00	interpretable range CS1>95%
HACE1	95.00	interpretable range CS1>95%
HSPD1	95.00	interpretable range CS1>95%
IBA57	95.00	interpretable range CS1>95%
KCNA2	95.00	interpretable range CS1>95%
KDM5C	95.00	interpretable range CS1>95%
KIDINS220	95.00	interpretable range CS1>95%
KIF1A	95.00	interpretable range CS1>95%
KIF1C	95.00	interpretable range CS1>95%
KIF5A	95.00	interpretable range CS1>95%
KLC2	95.00	interpretable range CS1>95%
L1CAM	95.00	interpretable range CS1>95%
ERCC2	95.00	interpretable range CS1>95%
MARS1	95.00	interpretable range CS1>95%
MARS2	95.00	interpretable range CS1>95%
MTPAP	95.00	interpretable range CS1>95%
NIPA1	95.00	interpretable range CS1>95%
NKX6-2	95.00	interpretable range CS1>95%
NT5C2	95.00	interpretable range CS1>95%
OPA3	95.00	interpretable range CS1>95%
PCYT2	95.00	interpretable range CS1>95%
PGAP1	95.00	interpretable range CS1>95%
PLP1	95.00	interpretable range CS1>95%
PNPLA6	95.00	interpretable range CS1>95%
POLR3A	95.00	interpretable range CS1>95%
RAB3GAP2	95.00	interpretable range CS1>95%
REEP1	95.00	interpretable range CS1>95%
REEP2	95.00	interpretable range CS1>95%
RNASEH2B	95.00	interpretable range CS1>95%
RTN2	95.00	interpretable range CS1>95%
SACS	95.00	interpretable range CS1>95%
SERAC1	95.00	interpretable range CS1>95%
SLC16A2	95.00	interpretable range CS1>95%
SLC1A4	95.00	interpretable range CS1>95%
SLC2A1	95.00	interpretable range CS1>95%
SLC33A1	95.00	interpretable range CS1>95%
SPART	95.00	interpretable range CS1>95%
SPAST	95.00	interpretable range CS1>95%
SPG11	95.00	interpretable range CS1>95%
SPG21	95.00	interpretable range CS1>95%
SPG7	95.00	interpretable range CS1>95%
TECPR2	95.00	interpretable range CS1>95%
TFG	95.00	interpretable range CS1>95%
TUBB4A	95.00	interpretable range CS1>95%
UBAP1	95.00	interpretable range CS1>95%
UCHL1	95.00	interpretable range CS1>95%
USP8	95.00	interpretable range CS1>95%
VAMP1	95.00	interpretable range CS1>95%
VPS37A	95.00	interpretable range CS1>95%
WASHC5	95.00	interpretable range CS1>95%
WDR48	95.00	interpretable range CS1>95%
ZFR	95.00	interpretable range CS1>95%
ZFYVE26	95.00	interpretable range CS1>95%
ZFYVE27	95.00	interpretable range CS1>95%
BRAF	95.00	interpretable range CS1>95%
CBL	95.00	interpretable range CS1>95%
HRAS	95.00	interpretable range CS1>95%
KRAS	95.00	interpretable range CS1>95%
MAP2K1	95.00	interpretable range CS1>95%
MAP2K2	95.00	interpretable range CS1>95%
NRAS	95.00	interpretable range CS1>95%
PTPN11	95.00	interpretable range CS1>95%
RAF1	95.00	interpretable range CS1>95%
SHOC2	95.00	interpretable range CS1>95%
SOS1	95.00	interpretable range CS1>95%
RIT1	95.00	interpretable range CS1>95%

Hyperparathyroidism (3 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
CDC73	100.00	1
RET	100.00	1
MEN1	100.00	1

Ichthyosis and erythroderma (98 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ABCA12	95.00	NM_173076.3
ABHD5	95.00	NM_016006.6
ADAM17	95.00	NM_003183.6
ALDH3A2	95.00	NM_000382.3
ALOX12B	95.00	NM_001139.3
ALOXE3	95.00	NM_021628.3
AP1B1	95.00	NM_001127.4
AP1S1	95.00	NM_001283.5
ASPRV1	95.00	NM_152792.4
ASS1	95.00	NM_000050.4
ATP7A	95.00	NM_000052.7
BCKDHA	95.00	NM_000709.4
BCKDHB	95.00	NM_183050.4
BTD	95.00	NM_001370658.1
BTK	95.00	NM_000061.3
CAPN12	95.00	NM_144691.4
CARD14	95.00	NM_024110.4
CASP14	95.00	NM_012114.3
CAST	95.00	NM_001042440.5
CDSN	95.00	NM_001264.5
CERS3	95.00	NM_178842.5
CHST8	95.00	NM_001127896.2
CLDN1	95.00	NM_021101.5
CPS1	95.00	NM_001875.5
CSTA	95.00	NM_005213.4
CTSB	95.00	NM_001908.5
CYP4F22	95.00	NM_173483.4
DBT	95.00	NM_001918.5
DCLRE1C	95.00	NM_001033855.3
DLD	95.00	NM_000108.5
DSG1	95.00	NM_001942.4
EBP	95.00	NM_006579.3
ELOVL1	95.00	NM_001256399.2
ELOVL4	95.00	NM_022726.4
ERCC2	95.00	NM_000400.4
ERCC3	95.00	NM_000122.2
FLG	95.00	NM_002016.2
FLG2	95.00	NM_001014342.3
GBA1	95.00	NM_001005741.3
GJA1	95.00	NM_000165.5
GJB2	95.00	NM_004004.6
GJB3	95.00	NM_024009.3
GJB4	95.00	NM_153212.3
GJB6	95.00	NM_006783.5
GTF2E2	95.00	NM_002095.6
GTF2H5	95.00	NM_207118.3
HLCS	95.00	NM_000411.8
IL36RN	95.00	NM_012275.3
KDSR	95.00	NM_002035.4
KIT	95.00	NM_000222.3
KRT1	95.00	NM_006121.4
KRT10	95.00	NM_000421.5
KRT14	95.00	NM_000526.5
KRT16	95.00	NM_005557.4
KRT2	95.00	NM_000423.3
KRT5	95.00	NM_000424.4
KRT6C	95.00	NM_173086.5
KRT83	95.00	NM_002282.3
KRT9	95.00	NM_000226.4
LIPN	95.00	NM_001102469.2
LORICRIN	95.00	NM_000427.3
MBTPS2	95.00	NM_015884.4
MPLKIP	95.00	NM_138701.4
MMUT	95.00	NM_000255.4
NIPAL4	95.00	NM_001099287.2
NSDHL	95.00	NM_015922.3
PCCA	95.00	NM_000282.4
PCCB	95.00	NM_000532.5
PERP	95.00	NM_022121.5
PEX7	95.00	NM_000288.4
PHYH	95.00	NM_006214.4
PIGL	95.00	NM_004278.4
PNPLA1	95.00	NM_001145717.1
POMP	95.00	NM_015932.6
RAG1	95.00	NM_000448.3
RAG2	95.00	NM_000536.4
RNF113A	95.00	NM_006978.3
SDR9C7	95.00	NM_148897.3
SERPINB7	95.00	NM_003784.4
SERPINB8	95.00	NM_198833.2
SGPL1	95.00	NM_003901.4
SLC25A13	95.00	NM_014251.3
SLC27A4	95.00	NM_005094.4
SLC30A2	95.00	NM_001004434.3
SLC39A4	95.00	NM_130849.4
SNAP29	95.00	NM_004782.4
SPINK5	95.00	NM_006846.4
SREBF1	95.00	NM_004176.5
ST14	95.00	NM_021978.4
STS	95.00	NM_000351.7
SULT2B1	95.00	NM_177973.2
SUMF1	95.00	NM_182760.4
TBX1	95.00	NM_080647.1
TGM1	95.00	NM_000359.3
TGM5	95.00	NM_201631.4
TRPM4	95.00	NM_017636.4
VIPAS39	95.00	NM_022067.4
VPS33B	95.00	NM_018668.5

Kidney cancer (Renal Cell Carcinoma (RCC)) (14 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
BAP1	100.00	1
FH	100.00	1
FLCN	100.00	1
MET	100.00	1
SDHB	100.00	1
SDHD	100.00	1
SDHC	100.00	1
SDHA	100.00	1
SDHAF2	100.00	1
VHL	100.00	1
MLH1	100.00	1
MSH2	100.00	1
MSH6	100.00	1
PMS2	100.00	1

Kidney cancer (Transitional Cell Carcinoma (TCC)) (14 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
BAP1	100.00	1
FH	100.00	1
FLCN	100.00	1
MET	100.00	1
SDHB	100.00	1
SDHD	100.00	1
SDHC	100.00	1
SDHA	100.00	1
SDHAF2	100.00	1
VHL	100.00	1
MLH1	100.00	1
MSH2	100.00	1
MSH6	100.00	1
PMS2	100.00	1

Maffucci syndrome (65 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ABL1	0.00	0	Only hotspots in the gene
AKT1	0.00	0	Only hotspots in the gene
ALK	0.00	0	Only hotspots in the gene
APC	0.00	0	Only hotspots in the gene
ATM	0.00	0	Only hotspots in the gene
BRAF	0.00	0	Only hotspots in the gene
BRCA1	0.00	0	Only hotspots in the gene
BRCA2	0.00	0	Only hotspots in the gene
CDH1	0.00	0	Only hotspots in the gene
CDKN2A	0.00	0	Only hotspots in the gene
CSF1R	0.00	0	Only hotspots in the gene
CTNNB1	0.00	0	Only hotspots in the gene
DDR2	0.00	0	Only hotspots in the gene
DNMT3A	0.00	0	Only hotspots in the gene
EGFR	0.00	0	Only hotspots in the gene
ERBB2	0.00	0	Only hotspots in the gene
ERBB3	0.00	0	Only hotspots in the gene
ERBB4	0.00	0	Only hotspots in the gene
EZH2	0.00	0	Only hotspots in the gene
FBXW7	0.00	0	Only hotspots in the gene
FGFR1	0.00	0	Only hotspots in the gene
FGFR2	0.00	0	Only hotspots in the gene
FGFR3	0.00	0	Only hotspots in the gene
FLT3	0.00	0	Only hotspots in the gene
FOXL2	0.00	0	Only hotspots in the gene
GNA11	0.00	0	Only hotspots in the gene
GNAQ	0.00	0	Only hotspots in the gene
GNAS	0.00	0	Only hotspots in the gene
HNF1A	0.00	0	Only hotspots in the gene
HRAS	0.00	0	Only hotspots in the gene
IDH1	0.00	0	Only hotspots in the gene
IDH2	0.00	0	Only hotspots in the gene
JAK2	0.00	0	Only hotspots in the gene
JAK3	0.00	0	Only hotspots in the gene
KDR	0.00	0	Only hotspots in the gene
KIT	0.00	0	Only hotspots in the gene
KRAS	0.00	0	Only hotspots in the gene
MAP2K1	0.00	0	Only hotspots in the gene
MET	0.00	0	Only hotspots in the gene
MLH1	0.00	0	Only hotspots in the gene
MPL	0.00	0	Only hotspots in the gene
MSH6	0.00	0	Only hotspots in the gene
MTOR	0.00	0	Only hotspots in the gene
NF1	0.00	0	Only hotspots in the gene
NF2	0.00	0	Only hotspots in the gene
NOTCH1	0.00	0	Only hotspots in the gene
NPM1	0.00	0	Only hotspots in the gene
NRAS	0.00	0	Only hotspots in the gene
PDGFRA	0.00	0	Only hotspots in the gene
PIK3CA	0.00	0	Only hotspots in the gene
PIK3R1	0.00	0	Only hotspots in the gene
PTCH1	0.00	0	Only hotspots in the gene
PTEN	0.00	0	Only hotspots in the gene
PTPN11	0.00	0	Only hotspots in the gene
RB1	0.00	0	Only hotspots in the gene
RET	0.00	0	Only hotspots in the gene
SMAD4	0.00	0	Only hotspots in the gene
SMARCB1	0.00	0	Only hotspots in the gene
SMO	0.00	0	Only hotspots in the gene
SRC	0.00	0	Only hotspots in the gene
STK11	0.00	0	Only hotspots in the gene
TERT	0.00	0	Only hotspots in the gene
TP53	0.00	0	Only hotspots in the gene
TSC1	0.00	0	Only hotspots in the gene
VHL	0.00	0	Only hotspots in the gene

Medulloblastoma (3 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
SUFU	100.00	1
TP53	100.00	1
PTCH1	100.00	1

Melanoma and Familial Atypical Multiple Mole Melanoma Syndrome (8 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
CDKN2A	100.00	1
CDK4	100.00	1
BAP1	100.00	1
POT1	100.00	1
ACD	100.00	1
TERF2IP	100.00	1
TERT	0.00	0	only promoter
MITF	100.00	1

Meningioma (3 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
NF2	100.00	1
SMARCB1	100.00	1
SUFU	100.00	1

Nephropathies, hereditary (219 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ACE	95.00	NM_000789.4
ACTN4	95.00	NM_004924.6
AGT	95.00	NM_001384479.1
AGTR1	95.00	NM_031850.4
AGXT	95.00	NM_000030.3
ALG5	95.00	NM_013338.5
ALG8	95.00	NM_024079.5
ALG9	95.00	NM_024740.2
AMN	95.00	NM_030943.4
ANKS6	95.00	NM_173551.5
ANLN	95.00	NM_018685.5
ANOS1	95.00	NM_000216.4
AP2S1	95.00	NM_004069.6
APOA1	95.00	NM_000039.3
APOA2	95.00	NM_001643.2
APOC2	95.00	NM_000483.5
APOE	95.00	NM_000041.4
APOL1	95.00	NM_003661.4
APRT	95.00	NM_000485.3
ARHGAP24	95.00	NM_001025616.3
ARHGDIA	95.00	NM_001185077.3
ATP6V0A4	95.00	NM_020632.3
ATP6V1B1	95.00	NM_001692.4
BMP4	95.00	NM_001202.6
BNC2	95.00	NM_017637.6
BSND	95.00	NM_057176.3
C3	95.00	NM_000064.4
CA2	95.00	NM_000067.3
CACNA1D	95.00	NM_000720.4
CACNA1H	95.00	NM_021098.3
CASR	95.00	NM_000388.4
CD2AP	95.00	NM_012120.3
CD46	95.00	NM_002389.4
CDC73	95.00	NM_024529.5
CDK20	95.00	NM_001039803.3
CEP164	95.00	NM_014956.5
CEP290	95.00	NM_025114.4
CEP83	95.00	NM_016122.3
CFB	95.00	NM_001710.6
CFH	95.00	NM_000186.4
CFHR1	95.00	NM_002113.3
CFHR3	95.00	NM_021023.6
CFHR5	95.00	NM_030787.4
CFI	95.00	NM_000204.5
CLCN2	95.00	NM_004366.6
CLCN5	95.00	NM_000084.5
CLCNKA	95.00	NM_004070.4
CLCNKB	95.00	NM_000085.5
CLDN10	95.00	NM_006984.5
CLDN16	95.00	NM_006580.4
CLDN19	95.00	NM_148960.3
CNNM2	95.00	NM_017649.5
COL4A1	95.00	NM_001845.6
COL4A3	95.00	NM_000091.5
COL4A4	95.00	NM_000092.5
COL4A5	95.00	NM_000495.5
COQ2	95.00	NM_015697.9
COQ6	95.00	NM_182476.3
COQ8B	95.00	NM_024876.4
CRB2	95.00	NM_173689.7
CTNS	95.00	NM_004937.3
CUBN	95.00	NM_001081.4
CUL3	95.00	NM_003590.5
CYP11B1	95.00	NM_000497.4
CYP11B2	95.00	NM_000498.3
CYP17A1	95.00	NM_000102.4
CYP24A1	95.00	NM_000782.5
DAAM2	95.00	NM_001201427.2
DGKE	95.00	NM_003647.3
DLEC1	95.00	NM_182643.3
DNAJB11	95.00	NM_016306.6
DSTYK	95.00	NM_015375.3
DZIP1L	95.00	NM_173543.3
EGF	95.00	NM_001963.6
EHHADH	95.00	NM_001966.4
EMP2	95.00	NM_001424.6
EYA1	95.00	NM_000503.6
FAM20A	95.00	NM_017565.4
FAN1	95.00	NM_014967.5
FAT1	95.00	NM_005245.4
FGA	95.00	NM_021871.4
FGF20	95.00	NM_019851.3
FGF23	95.00	NM_020638.3
FN1	95.00	NM_212482.4
FOXC1	95.00	NM_001453.3
FOXC2	95.00	NM_005251.3
FOXI1	95.00	NM_012188.5
FXYD2	95.00	NM_001680.5
GANAB	95.00	NM_198335.4
GATA3	95.00	NM_001002295.2
GATM	95.00	NM_001482.3
GDNF	95.00	NM_000514.4
GLA	95.00	NM_000169.3
GLIS2	95.00	NM_032575.3
GNA11	95.00	NM_002067.5
GREB1L	95.00	NM_001142966.3
GRHPR	95.00	NM_012203.2
GRIP1	95.00	NM_021150.4
GSN	95.00	NM_000177.5
HNF1A	95.00	NM_000545.8
HNF1B	95.00	NM_000458.4
HNF4A	95.00	NM_175914.5
HOGA1	95.00	NM_138413.4
HOXA13	95.00	NM_000522.5
HPRT1	95.00	NM_000194.3
HSD11B2	95.00	NM_000196.4
IFT140	95.00	NM_014714.4
IFT81	95.00	NM_014055.4
INF2	95.00	NM_022489.4
INVS	95.00	NM_014425.5
ITGA8	95.00	NM_003638.3
ITSN1	95.00	NM_003024.3
ITSN2	95.00	NM_147152.3
JAG1	95.00	NM_000214.3
KANK2	95.00	NM_001136191.3
KCNA1	95.00	NM_000217.3
KCNJ1	95.00	NM_000220.6
KCNJ10	95.00	NM_002241.5
KCNJ5	95.00	NM_000890.5
KIRREL1	95.00	NM_018240.7
KL	95.00	NM_004795.4
KLHL3	95.00	NM_017415.3
LAMB2	95.00	NM_002292.4
LCAT	95.00	NM_000229.2
LDHD	95.00	NM_153486.4
LHX1	95.00	NM_005568.5
LIFR	95.00	NM_002310.6
LMX1B	95.00	NM_002316.4
LYZ	95.00	NM_000239.3
MAGED2	95.00	NM_177433.3
MAGI2	95.00	NM_012301.4
MAPKBP1	95.00	NM_001128608.2
MMACHC	95.00	NM_015506.3
MOCOS	95.00	NM_017947.4
MTX2	95.00	NM_006554.5
MUC1	95.00	NM_002456.6
MYH9	95.00	NM_002473.6
MYO1E	95.00	NM_004998.4
NEK8	95.00	NM_178170.3
NOTCH2	95.00	NM_024408.4
NPHP1	95.00	NM_000272.5
NPHP3	95.00	NM_153240.5
NPHP4	95.00	NM_015102.5
NPHS1	95.00	NM_004646.4
NPHS2	95.00	NM_014625.4
NR3C1	95.00	NM_001018077.1
NR3C2	95.00	NM_000901.5
NUP107	95.00	NM_020401.4
NUP133	95.00	NM_018230.3
NUP160	95.00	NM_015231.3
NUP85	95.00	NM_024844.5
NUP93	95.00	NM_014669.5
OCRL	95.00	NM_000276.4
OFD1	95.00	NM_003611.3
PAX2	95.00	NM_003987.5
PBX1	95.00	NM_002585.4
PCBD1	95.00	NM_000281.4
PDSS2	95.00	NM_020381.4
PHEX	95.00	NM_000444.6
PKD1	95.00	NM_001009944.3
PKD2	95.00	NM_000297.4
PKHD1	95.00	NM_138694.4
PLCE1	95.00	NM_016341.4
PODXL	95.00	NM_005397.4
PRPS1	95.00	NM_002764.4
PTPRO	95.00	NM_030667.3
REN	95.00	NM_000537.4
RET	95.00	NM_020975.6
ROBO2	95.00	NM_002942.5
SALL1	95.00	NM_002968.3
SARS2	95.00	NM_017827.4
SCARB2	95.00	NM_005506.4
SCNN1A	95.00	NM_001038.6
SCNN1B	95.00	NM_000336.3
SCNN1G	95.00	NM_001039.4
SDCCAG8	95.00	NM_006642.5
SEC61A1	95.00	NM_013336.4
SGPL1	95.00	NM_003901.4
SIX1	95.00	NM_005982.4
SIX5	95.00	NM_175875.5
SLC12A1	95.00	NM_000338.3
SLC12A3	95.00	NM_000339.3
SLC22A12	95.00	NM_144585.4
SLC26A1	95.00	NM_213613.4
SLC2A2	95.00	NM_000340.2
SLC2A9	95.00	NM_020041.3
SLC34A1	95.00	NM_003052.5
SLC34A3	95.00	NM_080877.3
SLC3A1	95.00	NM_000341.4
SLC4A1	95.00	NM_000342.4
SLC4A4	95.00	NM_003759.4
SLC5A2	95.00	NM_003041.4
SLC7A9	95.00	NM_014270.5
SLIT2	95.00	NM_004787.4
SMARCAL1	95.00	NM_014140.4
TBC1D1	95.00	NM_015173.4
TBC1D8B	95.00	NM_017752.3
TBX18	95.00	NM_001080508.3
TNS2	95.00	NM_015319.2
TRAF3IP1	95.00	NM_015650.4
TRAP1	95.00	NM_016292.3
TRIM8	95.00	NM_030912.3
TRPC6	95.00	NM_004621.6
TRPM6	95.00	NM_017662.5
TSC1	95.00	NM_000368.5
TSC2	95.00	NM_000548.5
TTC21B	95.00	NM_024753.5
TTR	95.00	NM_000371.4
UMOD	95.00	NM_003361.4
VHL	95.00	NM_000551.4
WDR19	95.00	NM_025132.4
WDR72	95.00	NM_182758.4
WFS1	95.00	NM_006005.3
WNK1	95.00	NM_018979.4
WNK4	95.00	NM_032387.5
WNT4	95.00	NM_030761.5
WT1	95.00	NM_024426.6
XDH	95.00	NM_000379.4
XPNPEP3	95.00	NM_022098.4

Neuroendocrine tumor (NET) (9 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
MEN1	100.00	1
CDKN1B	10.00	1
RET	100.00	1
SDHB	100.00	1
SDHD	100.00	1
SDHC	100.00	1
SDHA	100.00	1
SDHAF2	100.00	1
VHL	100.00	1

Neuromuscular disorders (232 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
NEB	88.70	NM_001271208.1
SELENON	92.30	NM_020451.2
TSEN54	97.70	NM_207346.2
DOK7	97.90	NM_173660.4
ORAI1	97.90	NM_032790.3
CRPPA	98.60	NM_001101426.3
PGAM2	98.80	NM_000290.3
AGRN	99.00	NM_198576.3
HSPB1	99.00	NM_001540.4
POMT2	99.00	NM_013382.5
CACNA1H	99.10	NM_021098.2
RYR1	99.10	NM_000540.2
SPTBN4	99.30	NM_020971.2
TNNT1	99.50	NM_003283.5
HSPG2	99.50	NM_005529.6
CAPN3	99.60	NM_000070.2
GMPPB	99.60	NM_013334.3
ACADVL	99.60	NM_000018.3
LAMA5	99.60	NM_005560.4
B3GALNT2	99.70	NM_152490.4
SCN4A	99.70	NM_000334.4
ISCU	99.70	NM_213595.3
MATR3	99.70	NM_199189.2
SLC16A1	99.80	NM_003051.3
COL6A1	99.80	NM_001848.2
CHD8	99.80	NM_001170629.1
RAPSN	99.80	NM_005055.4
CACNA1A	99.80	NM_001127221.1
MYH7B	99.80	NM_024729.3
DCST2	99.80	NM_144622.2
CHRNE	99.80	NM_000080.3
SGCG	99.90	NM_000231.2
DYSF	99.90	NM_003494.3
MYL2	99.90	NM_000432.3
CHRNA1	99.90	NM_000079.3
ECEL1	99.90	NM_004826.3
PNPLA2	99.90	NM_020376.3
FXR1	99.90	NM_005087.3
TTN	99.90	NM_133378.4
PNPLA8	99.90	NM_015723.4
ATP2A1	99.90	NM_173201.3
COL6A2	99.90	NM_001849.3
MYBPC3	99.90	NM_000256.3
VCP	99.90	NM_007126.4
TRDN	99.90	NM_006073.3
GYS1	99.90	NM_002103.4
ALG13	99.90	NM_001099922.2
MYO18B	99.90	NM_032608.6
TK2	99.90	NM_004614.4
PHKB	99.90	NM_000293.2
SYT2	99.90	NM_177402.4
LDHA	99.90	NM_005566.3
LMNA	99.90	NM_170707.3
CFL2	99.90	NM_021914.7
TIA1	100.00	NM_022173.3
MYF6	100.00	NM_002469.2
KCNJ18	100.00	NM_001194958.2
DPM1	100.00	NM_003859.2
HNRNPDL	100.00	NM_031372.3
TPM2	100.00	NM_003289.3
CACNA1S	100.00	NM_000069.2
FLNC	100.00	NM_001458.4
CHRNB1	100.00	NM_000747.2
CCDC78	100.00	NM_001031737.2
ETFA	100.00	NM_000126.3
DNAJB6	100.00	NM_058246.3
DMPK	100.00	NM_001081563.2
CORIN	100.00	NM_002334.3
HACD1	100.00	NM_014241.3
EMD	100.00	NM_000117.2
TRIP4	100.00	NM_016213.4
MYL1	100.00	NM_079420.2
ETFDH	100.00	NM_004453.3
FKRP	100.00	NM_024301.4
DNA2	100.00	NM_001080449.2
PLEC	100.00	NM_000445.4
PABPN1	100.00	NM_004643.3
SPEG	100.00	NM_005876.4
ITGA7	100.00	NM_002206.2
POMT1	100.00	NM_007171.3
GFPT1	100.00	NM_002056.3
SYNE1	100.00	NM_033071.3
LPIN1	100.00	NM_145693.3
ENO3	100.00	NM_053013.3
GOLGA2	100.00	NM_004486.4
CHKB	100.00	NM_005198.4
AMPD1	100.00	NM_000036.2
ACTA1	100.00	NM_001100.3
ACVR1	100.00	NM_001105.4
HADHB	100.00	NM_000183.2
KCNA1	100.00	NM_000217.2
ANO5	100.00	NM_213599.2
INPP5K	100.00	NM_016532.3
SMCHD1	100.00	NM_015295.2
ADSS1	100.00	NM_199165.2
TRIM63	100.00	NM_032588.3
COL13A1	100.00	NM_001130103.1
TOP3A	100.00	NM_004618.4
COL12A1	100.00	NM_004370.5
MYPN	100.00	NM_032578.3
SYNE2	100.00	NM_182914.2
ACTN2	100.00	NM_001103.3
PREPL	100.00	NM_006036.4
MYH3	100.00	NM_002470.3
SGCB	100.00	NM_000232.4
PHKA1	100.00	NM_002637.3
CLCN1	100.00	NM_000083.2
KBTBD13	100.00	NM_001101362.2
CHAT	100.00	NM_020549.4
AGL	100.00	NM_000642.2
MUSK	100.00	NM_005592.3
CASQ1	100.00	NM_001231.4
ACADS	100.00	NM_000017.3
PYGM	100.00	NM_005609.3
GAA	100.00	NM_000152.4
TRAPPC11	100.00	NM_021942.5
MYO9A	100.00	NM_006901.3
COL6A3	100.00	NM_004369.3
DMD	100.00	NM_004006.2
MYH7	100.00	NM_000257.3
MYBPC1	100.00	NM_002465.3
RYR3	100.00	NM_001036.4
ABHD5	100.00	NM_016006.5
ACAD9	100.00	NM_014049.4
ACADL	100.00	NM_001608.3
ACADM	100.00	NM_000016.5
ALDOA	100.00	NM_000034.3
ALG14	100.00	NM_144988.3
ALG2	100.00	NM_033087.3
ATP1A2	100.00	NM_000702.3
B4GAT1	100.00	NM_006876.2
BAG3	100.00	NM_004281.3
BIN1	100.00	NM_139343.2
BVES	100.00	NM_007073.4
CAV3	100.00	NM_033337.2
CAVIN1	100.00	NM_012232.5
CHRND	100.00	NM_000751.2
CHRNG	100.00	NM_005199.4
CNTN1	100.00	NM_001843.3
COLQ	100.00	NM_005677.3
CPT2	100.00	NM_000098.2
CRYAB	100.00	NM_001885.2
DAG1	100.00	NM_004393.5
DES	100.00	NM_001927.3
DNM2	100.00	NM_001005360.2
DOLK	100.00	NM_014908.3
DPAGT1	100.00	NM_001382.3
DPM2	100.00	NM_003863.3
DPM3	100.00	NM_153741.1
ETFB	100.00	NM_001985.2
EXOSC3	100.00	NM_016042.3
CFH	100.00	NM_001449.4
FKBP14	100.00	NM_017946.3
FKTN	100.00	NM_001079802.1
FLAD1	100.00	NM_025207.4
GBE1	100.00	NM_000158.3
GGPS1	100.00	NM_001037277.1
GNE	100.00	NM_001128227.2
GYG1	100.00	NM_004130.3
HADH	100.00	NM_005327.4
HADHA	100.00	NM_000182.4
HINT1	100.00	NM_005340.6
HNRNPA1	100.00	NM_031157.3
HNRNPA2B1	100.00	NM_031243.2
HRAS	100.00	NM_005343.3
HSPB8	100.00	NM_014365.2
KCNE3	100.00	NM_005472.4
KCNJ2	100.00	NM_000891.2
KLHL40	100.00	NM_152393.3
KLHL41	100.00	NM_006063.2
KLHL9	100.00	NM_018847.3
KY	100.00	NM_178554.5
LAMA2	100.00	NM_000426.3
LAMB2	100.00	NM_002292.3
LAMP2	100.00	NM_002294.2
LARGE1	100.00	NM_004737.6
LDB3	100.00	NM_001080116.1
LIMS2	100.00	NM_001136037.2
LMOD3	100.00	NM_198271.4
MAP3K20	100.00	NM_016653.2
MB	100.00	NM_005368.2
MEGF10	100.00	NM_032446.2
MSTN	100.00	NM_005259.2
MTM1	100.00	NM_000252.2
MTMR14	100.00	NM_022485.4
MYH2	100.00	NM_017534.5
MYH8	100.00	NM_002472.2
MYMK	100.00	NM_001080483.2
MYOT	100.00	NM_006790.2
MED12	100.00	NM_015560.2
P4HA1	100.00	NM_001017962.2
PAX7	100.00	NM_002584.2
PDHA1	100.00	NM_000284.3
PFKM	100.00	NM_000289.5
PGK1	100.00	NM_000291.3
PGM1	100.00	NM_002633.2
POGLUT1	100.00	NM_152305.2
POLG	100.00	NM_002693.2
POLG2	100.00	NM_007215.3
POMGNT1	100.00	NM_017739.3
POMGNT2	100.00	NM_032806.5
POMK	100.00	NM_032237.4
POPDC3	100.00	NM_022361.4
PRKAG2	100.00	NM_016203.3
PYROXD1	100.00	NM_024854.4
RBCK1	100.00	NM_031229.3
RXYLT1	100.00	NM_014254.2
SBDS	100.00	NM_016038.3
SGCA	100.00	NM_000023.3
SGCD	100.00	NM_000337.5
SIL1	100.00	NM_022464.4
SLC18A3	100.00	NM_003055.2
SLC22A5	100.00	NM_003060.3
SLC25A20	100.00	NM_000387.5
SLC5A7	100.00	NM_021815.4
SNAP25	100.00	NM_130811.3
SQSTM1	100.00	NM_003900.4
STAC3	100.00	NM_145064.2
STIM1	100.00	NM_003156.3
WWTR1	100.00	NM_000116.4
TCAP	100.00	NM_003673.3
TMEM126B	100.00	NM_018480.5
TMEM43	100.00	NM_024334.2
TNNI2	100.00	NM_003282.3
TNNT3	100.00	NM_006757.3
TNPO3	100.00	NM_012470.3
TOR1AIP1	100.00	NM_001267578.1
TPM3	100.00	NM_152263.3
TRIM32	100.00	NM_012210.3
UNC45B	100.00	NM_173167.3
VAMP1	100.00	NM_014231.4
VMA21	100.00	NM_001017980.3

Osteogenesis Imperfecta (25 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ANO5	95.00	NM_213599.3
BMP1	95.00	NM_006129.5
COL1A1	95.00	NM_000088.4
COL1A2	95.00	NM_000089.4
CREB3L1	95.00	NM_052854.4
CRTAP	95.00	NM_006371.5
FKBP10	95.00	NM_021939.4
IFITM5	95.00	NM_001025295.3
LRP5	95.00	NM_002335.4
MBTPS2	95.00	NM_015884.4
P3H1	95.00	NM_022356.4
P4HB	95.00	NM_000918.4
PLOD2	95.00	NM_182943.3
PLS3	95.00	NM_005032.7
PPIB	95.00	NM_000942.5
SEC24D	95.00	NM_014822.4
SERPINF1	95.00	NM_002615.7
SERPINH1	95.00	NM_001235.5
SGMS2	95.00	NM_001136257.2
SP7	95.00	NM_001173467.3
SPARC	95.00	NM_003118.4
TENT5A	95.00	NM_017633.3
TMEM38B	95.00	NM_018112.3
WNT1	95.00	NM_005430.4
XYLT2	95.00	NM_022167.4

Overgrowth & vascular anomalies (65 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ABL1	0.00	0	Only hotspots in the gene
AKT1	0.00	0	Only hotspots in the gene
ALK	0.00	0	Only hotspots in the gene
APC	0.00	0	Only hotspots in the gene
ATM	0.00	0	Only hotspots in the gene
BRAF	0.00	0	Only hotspots in the gene
BRCA1	0.00	0	Only hotspots in the gene
BRCA2	0.00	0	Only hotspots in the gene
CDH1	0.00	0	Only hotspots in the gene
CDKN2A	0.00	0	Only hotspots in the gene
CSF1R	0.00	0	Only hotspots in the gene
CTNNB1	0.00	0	Only hotspots in the gene
DDR2	0.00	0	Only hotspots in the gene
DNMT3A	0.00	0	Only hotspots in the gene
EGFR	0.00	0	Only hotspots in the gene
ERBB2	0.00	0	Only hotspots in the gene
ERBB3	0.00	0	Only hotspots in the gene
ERBB4	0.00	0	Only hotspots in the gene
EZH2	0.00	0	Only hotspots in the gene
FBXW7	0.00	0	Only hotspots in the gene
FGFR1	0.00	0	Only hotspots in the gene
FGFR2	0.00	0	Only hotspots in the gene
FGFR3	0.00	0	Only hotspots in the gene
FLT3	0.00	0	Only hotspots in the gene
FOXL2	0.00	0	Only hotspots in the gene
GNA11	0.00	0	Only hotspots in the gene
GNAQ	0.00	0	Only hotspots in the gene
GNAS	0.00	0	Only hotspots in the gene
HNF1A	0.00	0	Only hotspots in the gene
HRAS	0.00	0	Only hotspots in the gene
IDH1	0.00	0	Only hotspots in the gene
IDH2	0.00	0	Only hotspots in the gene
JAK2	0.00	0	Only hotspots in the gene
JAK3	0.00	0	Only hotspots in the gene
KDR	0.00	0	Only hotspots in the gene
KIT	0.00	0	Only hotspots in the gene
KRAS	0.00	0	Only hotspots in the gene
MAP2K1	0.00	0	Only hotspots in the gene
MET	0.00	0	Only hotspots in the gene
MLH1	0.00	0	Only hotspots in the gene
MPL	0.00	0	Only hotspots in the gene
MSH6	0.00	0	Only hotspots in the gene
MTOR	0.00	0	Only hotspots in the gene
NF1	0.00	0	Only hotspots in the gene
NF2	0.00	0	Only hotspots in the gene
NOTCH1	0.00	0	Only hotspots in the gene
NPM1	0.00	0	Only hotspots in the gene
NRAS	0.00	0	Only hotspots in the gene
PDGFRA	0.00	0	Only hotspots in the gene
PIK3CA	0.00	0	Only hotspots in the gene
PIK3R1	0.00	0	Only hotspots in the gene
PTCH1	0.00	0	Only hotspots in the gene
PTEN	0.00	0	Only hotspots in the gene
PTPN11	0.00	0	Only hotspots in the gene
RB1	0.00	0	Only hotspots in the gene
RET	0.00	0	Only hotspots in the gene
SMAD4	0.00	0	Only hotspots in the gene
SMARCB1	0.00	0	Only hotspots in the gene
SMO	0.00	0	Only hotspots in the gene
SRC	0.00	0	Only hotspots in the gene
STK11	0.00	0	Only hotspots in the gene
TERT	0.00	0	Only hotspots in the gene
TP53	0.00	0	Only hotspots in the gene
TSC1	0.00	0	Only hotspots in the gene
VHL	0.00	0	Only hotspots in the gene

Pancreatic Cancer (9 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
CDKN2A	100.00	1
MLH1	100.00	1
MSH2	100.00	1
MSH6	100.00	1
BRCA1	100.00	1
BRCA2	100.00	1
PALB2	100.00	1
TP53	100.00	1
STK11	100.00	1

Paraganglioma-pheochromocytoma (7 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
SDHA	100.00	1
SDHB	100.00	1
SDHC	100.00	1
SDHD	100.00	1
SDHAF2	100.00	1
RET	100.00	1
VHL	100.00	1

Parathyroid tumor (4 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
CASR	100.00	1
CDC73	100.00	1
MEN1	100.00	1
RET	100.00	1

Parkinson (18 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
PRKN	100.00	Core gene / NM_004562.2
LRRK2	100.00	Core gene / NM_198578.3
PARK7	100.00	Core gene / NM_007262.4
SNCA	100.00	Core gene / NM_000345.3
PINK1	100.00	Core gene / NM_032409.2
VPS35	100.00	Core gene / NM_018206.5
ATP13A2	100.00	genes that may be associated with an inherited form of disease of Parkinson / NM_022089.3
ATP1A3	100.00	genes that may be associated with an inherited form of disease of Parkinson / NM_152296.5
ATP6AP2	100.00	genes that may be associated with an inherited form of disease of Parkinson / NM_005765.2
CHCHD2	100.00	genes that may be associated with an inherited form of disease of Parkinson / NM_016139.3
DNAJC13	100.00	genes that may be associated with an inherited form of disease of Parkinson / NM_015268.3
DNAJC6	100.00	genes that may be associated with an inherited form of disease of Parkinson / NM_001256864.1
FBXO7	100.00	genes that may be associated with an inherited form of disease of Parkinson / NM_012179.3
PLA2G6	100.00	genes that may be associated with an inherited form of disease of Parkinson / NM_003560.3
RAB39B	100.00	genes that may be associated with an inherited form of disease of Parkinson / NM_171998.3
SYNJ1	100.00	genes that may be associated with an inherited form of disease of Parkinson / NM_003895.3
GBA1	100.00	risk factor genes / NM_001005741.2
GCH1	100.00	risk factor genes / NM_000161.2

Primary Arterial Hypertension (19 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ACVRL1	100.00	NM_000020.2
AQP1	100.00	NM_198098.3
ATP13A3	100.00	NM_024524.3
BMPR1B	100.00	NM_001203.2
BMPR2	100.00	NM_001204.6
CAV1	100.00	NM_001753.4
EIF2AK4	100.00	NM_001013703.3
ENG	100.00	NM_000118.3
EPHB4	100.00	NM_004444.4
GDF2	100.00	NM_016204.3
KCNA5	100.00	NM_002234.3
KCNK3	100.00	NM_002246.2
KDR	100.00	NM_002253.3
RASA1	100.00	NM_002890.3
SMAD4	100.00	NM_005359.5
SMAD9	100.00	NM_001127217.2
SOX17	100.00	NM_022454.3
TBX4	100.00	NM_018488.3
SMAD1	100.00	NM_005900.3

Primary Ciliary Dyskinesia (61 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ODAD2	100.00	0	NM_018076.5
CCDC103	100.00	0	NM_213607.3
ODAD1	100.00	0	NM_144577.4
ODAD3	100.00	0	NM_145045.5
CCDC39	100.00	0	NM_181426.2
CCDC40	100.00	0	NM_017950.4
CCDC65	100.00	0	NM_033124.5
CCNO	100.00	0	NM_021147.5
CFAP251	100.00	0	NM_144668.6
CFAP298	100.00	0	NM_021254.4
CFAP300	100.00	0	NM_032930.3
CFAP45	100.00	0	NM_012337.3
CFAP53	100.00	0	NM_145020.5
CFAP57	100.00	0	NM_152498.3
CFAP74	100.00	0	NM_001304360.2
DNAAF1	100.00	0	NM_178452.6
DNAAF2	100.00	0	NM_018139.2
DNAAF3	100.00	0	NM_001256714.1
DNAAF4	100.00	0	NM_130810.4
DNAAF5	100.00	0	NM_017802.4
DNAAF6	100.00	0	NM_001169154.2
DNAH11	100.00	0	NM_001277115.2
DNAH17	100.00	0	NM_173628.4
DNAH2	100.00	0	NM_020877.5
DNAH5	100.00	0	NM_001369.3
DNAH6	100.00	0	NM_001370.2
DNAH8	100.00	0	NM_001206927.2
DNAH9	100.00	0	NM_031427.4
DNAI1	100.00	0	NM_012144.4
DNAI2	100.00	0	NM_023036.5
DNAJB13	100.00	0	NM_153614.4
DRC1	100.00	0	NM_145038.5
ENKUR	100.00	0	NM_145010.4
FOXJ1	100.00	0	NM_001454.4
GAS2L2	100.00	0	NM_139285.4
GAS8	100.00	0	NM_001481.3
HYDIN	100.00	0	NM_001270974.2
LRRC56	100.00	0	NM_198075.4
DNAAF11	100.00	0	NM_012472.6
MCIDAS	100.00	0	NM_001190787.3
MNS1	100.00	0	NM_018365.4
NEK10	100.00	0	NM_199347.4
NME5	100.00	0	NM_003551.3
NME8	100.00	0	NM_016616.5
OFD1	100.00	0	NM_003611.3
RPGR	100.00	0	NM_000328.3
RSPH1	100.00	0	NM_080860.4
RSPH3	100.00	0	NM_031924.8
RSPH4A	100.00	0	NM_001010892.3
RSPH9	100.00	0	NM_152732.5
SPAG1	100.00	0	NM_172218.3
SPEF2	100.00	0	NM_024867.4
STK36	100.00	0	NM_015690.5
TEKT1	100.00	0	NM_053285.2
TP73	100.00	0	NM_005427.4
TTC12	100.00	0	NM_017868.4
ODAD4	100.00	0	NM_031421.5
ZMYND10	100.00	0	NM_015896.4
CFAP221	100.00	-2
DNAL1	100.00	-2	NM_031427.4
DAW1	100.00	-2	NM_178821.3

Primary immune deficiencies (444 genes) - KUL

Details

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%

Prostate cancer (7 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
BRCA1	100.00	1
BRCA2	100.00	1
CHEK2	100.00	1
ATM	100.00	1
MLH1	100.00	1
MSH2	100.00	1
MSH6	100.00	1

Pulmonary Fibrosis (21 genes) + rs35705950 (MUC5B gene) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ABCA3	100.00	NM_001089.2
ACD	100.00	NM_001082486.1
CSF2RA	100.00	NM_006140.4
CSF2RB	100.00	NM_000395.2
DKC1	100.00	NM_001363.4
GATA2	100.00	NM_032638.4
GBA1	100.00	NM_001005741.2
HPS1	100.00	NM_000195.3
HPS4	100.00	NM_022081.5
NHP2	100.00	NM_017838.3
NKX2-1	100.00	NM_001079668.2
PARN	100.00	NM_002582.3
RTEL1	100.00	NM_032957.4
SFTPA1	100.00	NM_005411.4
SFTPA2	100.00	NM_001098668.2
SFTPC	100.00	NM_003018.3
SLC34A2	100.00	NM_006424.2
SMPD1	100.00	NM_000543.4
TERC	100.00	NR_001566.1
TERT	100.00	NM_198253.2
TINF2	100.00	NM_001099274.1

RASopathy - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
A2ML1	95.00	research gene + % of coding sequence represents the minimum CS1 interpretable range
BRAF	95.00	core gene + % of coding sequence represents the minimum CS1 interpretable range
CBL	95.00	core gene + % of coding sequence represents the minimum CS1 interpretable range
HRAS	95.00	core gene + % of coding sequence represents the minimum CS1 interpretable range
KRAS	95.00	core gene + % of coding sequence represents the minimum CS1 interpretable range
LZTR1	95.00	core gene + % of coding sequence represents the minimum CS1 interpretable range
MAP2K1	95.00	core gene + % of coding sequence represents the minimum CS1 interpretable range
MAP2K2	95.00	core gene + % of coding sequence represents the minimum CS1 interpretable range
MRAS	95.00	core gene + % of coding sequence represents the minimum CS1 interpretable range
NRAS	95.00	core gene + % of coding sequence represents the minimum CS1 interpretable range
PPP1CB	95.00	core gene +% of coding sequence represents the minimum CS1 interpretable range
PTPN11	95.00	core gene + % of coding sequence represents the minimum CS1 interpretable range
RAF1	95.00	core gene + % of coding sequence represents the minimum CS1 interpretable range
RASA1	95.00	research gene + % of coding sequence represents the minimum CS1 interpretable range
RASA2	95.00	research gene + % of coding sequence represents the minimum CS1 interpretable range
RIT1	95.00	core gene + % of coding sequence represents the minimum CS1 interpretable range
RRAS	80.00	research gene + % of coding sequence represents the minimum CS1 interpretable range
RRAS2	95.00	research gene + % of coding sequence represents the minimum CS1 interpretable range
SHOC2	95.00	core gene + % of coding sequence represents the minimum CS1 interpretable range
SOS1	95.00	core gene + % of coding sequence represents the minimum CS1 interpretable range
SOS2	95.00	core gene + % of coding sequence represents the minimum CS1 interpretable range

Schwannoma Predisposition (3 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
NF2	100.00	1
SMARCB1	100.00	1
LZTR1	100.00	1

Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ATXN1
ATXN2
ATXN3
CACNA1A
ATXN7

Stickler (6 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
COL11A1	95.00	NM_001854.4
COL11A2	95.00	NM_080680.3
COL2A1	95.00	NM_001844.5
COL9A1	95.00	NM_001851.6
COL9A2	95.00	NM_001852.4
COL9A3	95.00	NM_001853.4

Sturge-Weber syndrome (65 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ABL1	0.00	0	Only hotspots in the gene
AKT1	0.00	0	Only hotspots in the gene
ALK	0.00	0	Only hotspots in the gene
APC	0.00	0	Only hotspots in the gene
ATM	0.00	0	Only hotspots in the gene
BRAF	0.00	0	Only hotspots in the gene
BRCA1	0.00	0	Only hotspots in the gene
BRCA2	0.00	0	Only hotspots in the gene
CDH1	0.00	0	Only hotspots in the gene
CDKN2A	0.00	0	Only hotspots in the gene
CSF1R	0.00	0	Only hotspots in the gene
CTNNB1	0.00	0	Only hotspots in the gene
DDR2	0.00	0	Only hotspots in the gene
DNMT3A	0.00	0	Only hotspots in the gene
EGFR	0.00	0	Only hotspots in the gene
ERBB2	0.00	0	Only hotspots in the gene
ERBB3	0.00	0	Only hotspots in the gene
ERBB4	0.00	0	Only hotspots in the gene
EZH2	0.00	0	Only hotspots in the gene
FBXW7	0.00	0	Only hotspots in the gene
FGFR1	0.00	0	Only hotspots in the gene
FGFR2	0.00	0	Only hotspots in the gene
FGFR3	0.00	0	Only hotspots in the gene
FLT3	0.00	0	Only hotspots in the gene
FOXL2	0.00	0	Only hotspots in the gene
GNA11	0.00	0	Only hotspots in the gene
GNAQ	0.00	0	Only hotspots in the gene
GNAS	0.00	0	Only hotspots in the gene
HNF1A	0.00	0	Only hotspots in the gene
HRAS	0.00	0	Only hotspots in the gene
IDH1	0.00	0	Only hotspots in the gene
IDH2	0.00	0	Only hotspots in the gene
JAK2	0.00	0	Only hotspots in the gene
JAK3	0.00	0	Only hotspots in the gene
KDR	0.00	0	Only hotspots in the gene
KIT	0.00	0	Only hotspots in the gene
KRAS	0.00	0	Only hotspots in the gene
MAP2K1	0.00	0	Only hotspots in the gene
MET	0.00	0	Only hotspots in the gene
MLH1	0.00	0	Only hotspots in the gene
MPL	0.00	0	Only hotspots in the gene
MSH6	0.00	0	Only hotspots in the gene
MTOR	0.00	0	Only hotspots in the gene
NF1	0.00	0	Only hotspots in the gene
NF2	0.00	0	Only hotspots in the gene
NOTCH1	0.00	0	Only hotspots in the gene
NPM1	0.00	0	Only hotspots in the gene
NRAS	0.00	0	Only hotspots in the gene
PDGFRA	0.00	0	Only hotspots in the gene
PIK3CA	0.00	0	Only hotspots in the gene
PIK3R1	0.00	0	Only hotspots in the gene
PTCH1	0.00	0	Only hotspots in the gene
PTEN	0.00	0	Only hotspots in the gene
PTPN11	0.00	0	Only hotspots in the gene
RB1	0.00	0	Only hotspots in the gene
RET	0.00	0	Only hotspots in the gene
SMAD4	0.00	0	Only hotspots in the gene
SMARCB1	0.00	0	Only hotspots in the gene
SMO	0.00	0	Only hotspots in the gene
SRC	0.00	0	Only hotspots in the gene
STK11	0.00	0	Only hotspots in the gene
TERT	0.00	0	Only hotspots in the gene
TP53	0.00	0	Only hotspots in the gene
TSC1	0.00	0	Only hotspots in the gene
VHL	0.00	0	Only hotspots in the gene

Telangiectasia,hereditary hemorrhagic of Rendu Osler and Weber (6 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation
ACVRL1	100.00	1
ENG	100.00	1
SMAD4	100.00	0
GDF2	100.00	0
EPHB4	100.00	0
RASA1	100.00	0

Trombosis - Hemostasis (107 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ABCC4	95.00	0	NM_005845.4/ interpretable range CS1>95%
ABCG5	95.00	0	NM_022436.2/ interpretable range CS1>95%
ABCG8	95.00	0	NM_022437.2/ interpretable range CS1>95%
ACTB	95.00	0	NM_001101.4/ interpretable range CS1>95%
ACTN1	95.00	0	NM_001130004.1/ interpretable range CS1>95%
ACVRL1	95.00	0	NM_000020.2/ interpretable range CS1>95%
ADAMTS13	95.00	0	NM_139025.4/ interpretable range CS1>95%
ANKRD26	95.00	0	NM_014915.2/ interpretable range CS1>95%
ANO6	95.00	0	NM_001025356.2/ interpretable range CS1>95%
AP3B1	95.00	0	NM_003664.4/ interpretable range CS1>95%
AP3D1	95.00	0	NM_001261826.1/ interpretable range CS1>95%
ARPC1B	95.00	0	NM_005720.3/ interpretable range CS1>95%
BLOC1S3	95.00	0	NM_212550.3/ interpretable range CS1>95%
BLOC1S5	95.00	0	NM_201280.2/ interpretable range CS1>95%
BLOC1S6	95.00	0	NM_012388.2/ interpretable range CS1>95%
CDC42	95.00	0	NM_001791.3/ interpretable range CS1>95%
CHST14	95.00	0	NM_130468.3/ interpretable range CS1>95%
COL1A1	95.00	0	NM_000088.3/ interpretable range CS1>95%
COL3A1	95.00	0	NM_000090.3/ interpretable range CS1>95%
COL4A1	95.00	0	NM_001845.5/ interpretable range CS1>95%
COL4A2	95.00	0	NM_001846.3/ interpretable range CS1>95%
COL5A1	95.00	0	NM_000093.4/ interpretable range CS1>95%
COL5A2	95.00	0	NM_000393.3/ interpretable range CS1>95%
CYCS	95.00	0	NM_018947.5/ interpretable range CS1>95%
DIAPH1	95.00	0	NM_005219.4/ interpretable range CS1>95%
DTNBP1	95.00	0	NM_032122.4/ interpretable range CS1>95%
ENG	95.00	0	NM_000118.3/ interpretable range CS1>95%
ETV6	95.00	0	NM_001987.4/ interpretable range CS1>95%
F10	95.00	0	NM_000504.3/ interpretable range CS1>95%
F11	95.00	0	NM_000128.3/ interpretable range CS1>95%
F12	95.00	0	NM_000505.3/ interpretable range CS1>95%
F13A1	95.00	0	NM_000129.3/ interpretable range CS1>95%
F13B	95.00	0	NM_001994.2/ interpretable range CS1>95%
F2	95.00	0	NM_000506.3/ interpretable range CS1>95%
F5	95.00	0	NM_000130.4/ interpretable range CS1>95%
F7	95.00	0	NM_000131.4/ interpretable range CS1>95%
F8	95.00	0	NM_000132.3/ interpretable range CS1>95%
F9	95.00	0	NM_000133.3/ interpretable range CS1>95%
FERMT3	95.00	0	NM_031471.5/ interpretable range CS1>95%
FGA	95.00	0	NM_021871.2/ interpretable range CS1>95%
FGB	95.00	0	NM_005141.4/ interpretable range CS1>95%
FGG	95.00	0	NM_000509.4/ interpretable range CS1>95%
FLII	95.00	0	NM_002017.4/ interpretable range CS1>95%
FLNA	95.00	0	NM_001456.3/ interpretable range CS1>95%
FYB1	95.00	0	NM_001465.5/ interpretable range CS1>95%
GATA1	95.00	0	NM_002049.3/ interpretable range CS1>95%
GDF2	95.00	0	NM_016204.3/ interpretable range CS1>95%
GFI1B	95.00	0	NM_004188.5/ interpretable range CS1>95%
GGCX	95.00	0	NM_000821.5/ interpretable range CS1>95%
GNE	95.00	0	NM_001128227.2/ interpretable range CS1>95%
GP1BA	95.00	0	NM_000173.6/ interpretable range CS1>95%
GP1BB	95.00	0	NM_000407.4/ interpretable range CS1>95%
GP6	95.00	0	NM_001083899.2/ interpretable range CS1>95%
GP9	95.00	0	NM_000174.4/ interpretable range CS1>95%
HOXA11	95.00	0	NM_005523.5/ interpretable range CS1>95%
HPS1	95.00	0	NM_000195.3/ interpretable range CS1>95%
HPS3	95.00	0	NM_032383.3/ interpretable range CS1>95%
HPS4	95.00	0	NM_022081.5/ interpretable range CS1>95%
HPS5	95.00	0	NM_181507.1/ interpretable range CS1>95%
HPS6	95.00	0	NM_024747.5/ interpretable range CS1>95%
HRG	95.00	0	NM_000412.3/ interpretable range CS1>95%
IKZF5	95.00	0	NM_001271840.1/ interpretable range CS1>95%
ITGA2B	95.00	0	NM_000419.3/ interpretable range CS1>95%
ITGB3	95.00	0	NM_000212.2/ interpretable range CS1>95%
KDSR	95.00	0	NM_002035.2/ interpretable range CS1>95%
KNG1	95.00	0	NM_001102416.2/ interpretable range CS1>95%
LMAN1	95.00	0	NM_005570.3/ interpretable range CS1>95%
LYST	95.00	0	NM_000081.3/ interpretable range CS1>95%
MCFD2	95.00	0	NM_139279.5/ interpretable range CS1>95%
MECOM	95.00	0	NM_001105078.3/ interpretable range CS1>95%
MPIG6B	95.00	0	NM_025260.3/ interpretable range CS1>95%
MPL	95.00	0	NM_005373.2/ interpretable range CS1>95%
MYH9	95.00	0	NM_002473.5/ interpretable range CS1>95%
NBEA	95.00	0	NM_015678.4/ interpretable range CS1>95%
NBEAL2	95.00	0	NM_015175.2/ interpretable range CS1>95%
P2RY12	95.00	0	NM_022788.4/ interpretable range CS1>95%
PIGA	95.00	0	NM_002641.3/ interpretable range CS1>95%
PLA2G4A	95.00	0	NM_024420.2/ interpretable range CS1>95%
PLAU	95.00	0	NM_002658.3/ interpretable range CS1>95%
PLG	95.00	0	NM_000301.3/ interpretable range CS1>95%
PROC	95.00	0	NM_000312.3/ interpretable range CS1>95%
PROS1	95.00	0	NM_000313.3/ interpretable range CS1>95%
PTGS1	95.00	0	NM_000962.3/ interpretable range CS1>95%
RASGRP2	95.00	0	NM_153819.1/ interpretable range CS1>95%
RBM8A	95.00	0	NM_005105.4/ interpretable range CS1>95%
RUNX1	95.00	0	NM_001754.4/ interpretable range CS1>95%
SERPINC1	95.00	0	NM_000488.3/ interpretable range CS1>95%
SERPIND1	95.00	0	NM_000185.3/ interpretable range CS1>95%
SERPINE1	95.00	0	NM_000602.4/ interpretable range CS1>95%
SERPINF2	95.00	0	NM_000934.3/ interpretable range CS1>95%
SLFN14	95.00	0	NM_001129820.1/ interpretable range CS1>95%
SMAD4	95.00	0	NM_005359.5/ interpretable range CS1>95%
SRC	95.00	0	NM_005417.4/ interpretable range CS1>95%
STIM1	95.00	0	NM_003156.3/ interpretable range CS1>95%
STXBP2	95.00	0	NM_006949.3/ interpretable range CS1>95%
TBXA2R	95.00	0	NM_001060.5/ interpretable range CS1>95%
TBXAS1	95.00	0	NM_001061.4/ interpretable range CS1>95%
THBD	95.00	0	NM_000361.2/ interpretable range CS1>95%
THPO	95.00	0	NM_000460.3/ interpretable range CS1>95%
TPM4	95.00	0	NM_001145160.1/ interpretable range CS1>95%
TUBB1	95.00	0	NM_030773.3/ interpretable range CS1>95%
VIPAS39	95.00	0	NM_022067.3/ interpretable range CS1>95%
VKORC1	95.00	0	NM_024006.4/ interpretable range CS1>95%
VPS33B	95.00	0	NM_018668.4/ interpretable range CS1>95%
VWF	95.00	0	NM_000552.3/ interpretable range CS1>95%
WAS	95.00	0	NM_000377.2/ interpretable range CS1>95%
RAP1B	95.00	-2	NM_015646.6/ interpretable range CS1>95%

Wilms' tumor (2 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
DICER1	100.00	1
WT1	100.00	1

chILD (34 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
ABCA3	95.00	NM_001089.3 / interpretable range CS1>95%
AP3B1	95.00	NM_003664.5/ interpretable range CS1>95%
AP3D1	95.00	NM_001261826.3/ interpretable range CS1>95%
BLOC1S3	95.00	NM_212550.5/ interpretable range CS1>95%
BLOC1S5	95.00	NM_201280.3/ interpretable range CS1>95%
BLOC1S6	95.00	NM_012388.4/ interpretable range CS1>95%
COPA	95.00	NM_004371.4/ interpretable range CS1>95%
CSF2RA	95.00	NM_006140.6/ interpretable range CS1>95%
CSF2RB	95.00	NM_000395.3/ interpretable range CS1>95%
DTNBP1	95.00	NM_032122.5/ interpretable range CS1>95%
FLNA	95.00	NM_001456.4/ interpretable range CS1>95%
FOXF1	95.00	NM_001451.3/ interpretable range CS1>95%
GATA2	95.00	NM_032638.5/ interpretable range CS1>95%
HPS1	95.00	NM_000195.5/ interpretable range CS1>95%
HPS3	95.00	NM_022081.6/ interpretable range CS1>95%
HPS5	95.00	NM_181507.2/ interpretable range CS1>95%
HPS6	95.00	NM_024747.6/ interpretable range CS1>95%
MARS1	95.00	NM_004990.4/ interpretable range CS1>95%
NKX2-1	95.00	NM_001079668.3/ interpretable range CS1>95%
SFTPA1	95.00	NM_005411.5/ interpretable range CS1>95%
SFTPA2	95.00	NM_001098668.4/ interpretable range CS1>95%
SFTPB	95.00	NM_198843.3/ interpretable range CS1>95%
SFTPC	95.00	NM_003018.4/ interpretable range CS1>95%
STING1	95.00	NM_198282.4/ interpretable range CS1>95%
TBX4	95.00	NM_018488.3/ interpretable range CS1>95%
TERC	95.00	NR_001566.1/ interpretable range CS1>95%
TERT	95.00	NM_198253.3/ interpretable range CS1>95%
HPS4	95.00	NM_022081.6/ interpretable range CS1>95%
MUC5B	95.00	NM_002458.3/ interpretable range CS1>95%
PARN	95.00	NM_002582.4/ interpretable range CS1>95%
RTEL1	95.00	NM_032957.5/ interpretable range CS1>95%
SLC34A2	95.00	NM_006424.3/ interpretable range CS1>95%
SLC7A7	95.00	NM_001126106.4/ interpretable range CS1>95%
RAB5B	95.00	NM_002868.4/ interpretable range CS1>95%

epidermal nevus syndrome (65 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
AKT1	0.00	0	Only hotspots in the gene
ALK	0.00	0	Only hotspots in the gene
BRAF	0.00	0	Only hotspots in the gene
CDKN2A	0.00	0	Only hotspots in the gene
CTNNB1	0.00	0	Only hotspots in the gene
DDR2	0.00	0	Only hotspots in the gene
EGFR	0.00	0	Only hotspots in the gene
ERBB2	0.00	0	Only hotspots in the gene
ERBB4	0.00	0	Only hotspots in the gene
FGFR2	0.00	0	Only hotspots in the gene
FGFR3	0.00	0	Only hotspots in the gene
H3-3A	0.00	0	Only hotspots in the gene
H3C2	0.00	0	Only hotspots in the gene
HRAS	0.00	0	Only hotspots in the gene
IDH1	0.00	0	Only hotspots in the gene
IDH2	0.00	0	Only hotspots in the gene
KIT	0.00	0	Only hotspots in the gene
KRAS	0.00	0	Only hotspots in the gene
MAP2K1	0.00	0	Only hotspots in the gene
MET	0.00	0	Only hotspots in the gene
NRAS	0.00	0	Only hotspots in the gene
PDGFRA	0.00	0	Only hotspots in the gene
PIK3CA	0.00	0	Only hotspots in the gene
PIK3R1	0.00	0	Only hotspots in the gene
PTEN	0.00	0	Only hotspots in the gene
STK11	0.00	0	Only hotspots in the gene

keratinopathic ichthyosis (3 genes) - KUL

Details

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Comments
KRT1	95.00	interpretable range CS1>95%
KRT2	95.00	interpretable range CS1>95%
KRT10	95.00	interpretable range CS1>95%