All screenings

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Template: Template(s) used to detect the sequence variant; DNA (genomic DNA), RNA (cDNA) or protein
All options:

DNA
RNA = RNA (cDNA)
protein
? = unknown

Technique: technique(s) used to identify the sequence variant.
All options:

? = unknown
- = not applicable
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
APEX = arrayed primer extension
ASMM RTQ-PCR = allele-specific methylated multiplex real-time quantitative PCR
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CAGE = Cap analysis gene expression
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscope (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
MSREs = Methylation sensitive restriction enzymes
MS-SeQMA = Methylation-specific Sequence-based quantitative methylation analysis
Ms-SNuPE = Methylation-sensitive single-nucleotide primer extension
MyoD = myoD induced differentiation
Northern = Northern blotting
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
QMPSF = Quantitative Multiplex PCR of Short Fluorescent fragments
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western Blotting

Tissue: tissue type used for analysis

Remarks: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.

184017 entries on 1841 pages. Showing entries 1 - 100.

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Screening ID	Individual ID	Template	Technique	Tissue	Remarks	Genes screened	Variants found	Owner	Date created
0000000001	00000001	DNA	NGS	-	-	ACADM, ADA, ARSB, ATP7B, CYP21A2, DMD, ETFB, GALT, GLB1, IGHMBP2, LAMA2, NHLRC1, NPHP3, NPHS1, RAD51B, SLC26A2	34	LOVD-team, but with Curator vacancy	2012-05-11 13:18:36
0000000002	00000002	DNA	NGS	-	-	ACADM, ADA, ARSB, ATP7B, CPT1A, CYP21A2, GBA, GLB1, HEXA, NHLRC1, SERPINA1	12	LOVD-team, but with Curator vacancy	2012-05-11 13:18:36
0000000003	00000003	DNA	NGS	-	-	ACADM, CDH23, DPYD, ETFB, GBA, GLB1, HADHA, HESX1, IGHMBP2, NHLRC1, NPHS1, PKHD1, SERPINA1, SLC26A2	15	LOVD-team, but with Curator vacancy	2012-05-11 13:18:36
0000000004	00000004	DNA	NGS	-	-	ACADM, AGL, DPYD, ETFB, GAA, HESX1, NHLRC1, NPHS1, SBDS, SLC26A2, SMPD1	13	LOVD-team, but with Curator vacancy	2012-05-11 13:18:36
0000000005	00000005	DNA	NGS	-	-	ACADM, ATP7B, CFTR, ETFB, GLB1, MEFV, NHLRC1, PKHD1, RAPSN, SERPINA1, SLC26A2, USH2A	12	LOVD-team, but with Curator vacancy	2012-05-11 13:18:37
0000000006	00000006	DNA	NGS	-	-	ACADM, APTX, ATP7B, GALC, MTHFR, SERPINA1, SGSH, SLC26A2	9	LOVD-team, but with Curator vacancy	2012-05-11 13:18:37
0000000007	00000007	DNA	NGS	-	-	ACADM, ATP7B, CDH23, HESX1, HGSNAT, NPHS1, PAH, PKHD1, SERPINA1	9	LOVD-team, but with Curator vacancy	2012-05-11 13:18:37
0000000008	00000008	DNA	NGS	-	-	ACADM, ADA, ATP7B, CFTR, ETFB, FKTN, HESX1, HGSNAT, MYO5A, NPHS1, SERPINA1, USH2A	12	LOVD-team, but with Curator vacancy	2012-05-11 13:18:37
0000000009	00000009	DNA	NGS	-	-	ACADM, ARSB, ATP7B, CFTR, CLN3, ETFB, GAN, GLB1, HEXB, IGHMBP2, MEFV, NHLRC1, NPHS1, NTRK1, PMP22, SERPINA1, WNT10A	18	LOVD-team, but with Curator vacancy	2012-05-11 13:18:37
0000000010	00000010	DNA	NGS	-	-	ACADM, ATP7B, BTD, CLN3, CPT1A, DGUOK, ERCC6, ETFB, NHLRC1, PAH	12	LOVD-team, but with Curator vacancy	2012-05-11 13:18:38
0000000011	00000011	DNA	NGS	-	-	ACADM, ADA, ATP7B, ATR, CFTR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, SERPINA1, SMPD1	11	LOVD-team, but with Curator vacancy	2012-05-11 13:18:38
0000000012	00000012	DNA	NGS	-	-	ACADVL, ADA, AGL, ATP7B, CYP21A2, DPYD, ETFB, GBA, HGSNAT, IGHMBP2, LAMA2, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2	16	LOVD-team, but with Curator vacancy	2012-05-11 13:18:38
0000000013	00000013	DNA	NGS	-	-	AGL, ATP7B, COL7A1, HADHA, MEFV, NHLRC1, PAH, SMPD1	8	LOVD-team, but with Curator vacancy	2012-05-11 13:18:38
0000000014	00000014	DNA	NGS	-	-	ALG6, ATP7B, CFTR, DPYD, ETFB, GLB1, GNPTAB, HEXB, IGHMBP2, MYO5A, NHLRC1, NPHP4, NPHS1, PKHD1, SERPINA1, SFTPB, SGSH, TSFM	22	LOVD-team, but with Curator vacancy	2012-05-11 13:18:39
0000000015	00000015	DNA	NGS	-	-	ALG6, ARSB, ATP7B, BMPR2, DPYD, ETFB, GALC, GLB1, NHLRC1, NPHS1, SERPINA1, TGM1	11	LOVD-team, but with Curator vacancy	2012-05-11 13:18:39
0000000016	00000016	DNA	NGS	-	-	ADA, ALG6, ATP7B, CFTR, DPYD, ENPP1, GLB1, IGHMBP2, NPHS1, PKHD1	10	LOVD-team, but with Curator vacancy	2012-05-11 13:18:39
0000000017	00000017	DNA	NGS	-	-	ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, SERPINA1, SMPD1	15	LOVD-team, but with Curator vacancy	2012-05-11 13:18:40
0000000018	00000018	DNA	NGS	-	-	ALG6, ASPA, ATP7B, DPYD, GLB1, LAMA2, MMACHC, MPL, MYO5A, NHLRC1, NPHS1, SERPINA1, SMPD1	15	LOVD-team, but with Curator vacancy	2012-05-11 13:18:40
0000000019	00000019	DNA	NGS	-	-	AFF2, ALG12, ALG6, B3GLCT, B4GALT1, BBS12, CDK5RAP2, CENPJ, CRBN, DHCR7, EP300, IL1RAPL1, KDM5C, KRAS, MCPH1, MED12, NSD1, NUFIP1, POMT1, RAB3GAP2, RAF1, SATB2, SCN8A, SIL1, TSC1	44	LOVD-team, but with Curator vacancy	2012-05-11 13:18:40
0000000020	00000020	DNA	NGS	-	-	ALPL, ATP7B, ETFB, GLB1, IGHMBP2, MKS1, MYO5A, NHLRC1, NPHS1, SERPINA1, SLC26A2, SMPD1	14	LOVD-team, but with Curator vacancy	2012-05-11 13:18:40
0000000021	00000021	DNA	NGS	-	-	ALPL, BTD, CBS, DKC1, ETFB, GLB1, SBDS, SERPINA1	7	LOVD-team, but with Curator vacancy	2012-05-11 13:18:41
0000000022	00000022	DNA	NGS	-	-	ALPL, ATP7B, CBS, DPYD, ETFB, GALC, GLB1, NPHS1, PAH, SERPINA1, SLC26A2	13	LOVD-team, but with Curator vacancy	2012-05-11 13:18:41
0000000023	00000023	DNA	NGS	-	-	ALPL, ATP7B, CBS, CEP290, COL17A1, CYP21A2, DPYD, GBA, GLB1, NHLRC1, SERPINA1, SLC26A2, SLC3A1, SMPD1	16	LOVD-team, but with Curator vacancy	2012-05-11 13:18:41
0000000024	00000024	DNA	NGS	-	-	AGA, AMPD1, ATP7B, CBS, CPT1A, CYP21A2, DPYD, ETFB, MEFV, NPHP4, NPHS1, SERPINA1	15	LOVD-team, but with Curator vacancy	2012-05-11 13:18:41
0000000025	00000025	DNA	NGS	-	-	AMPD1, ATP7B, ATR, CBS, CFTR, CYP21A2, ETFB, GLB1, HBB, IGHMBP2, NPHS1, PAH, SERPINA1, SLC26A2	15	LOVD-team, but with Curator vacancy	2012-05-11 13:18:41
0000000026	00000026	DNA	NGS	-	-	AMPD1, ATP7B, CBS, CPT1A, ETFB, GLB1, GRHPR, HEXB, INVS, MECP2, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1, SLC26A2	17	LOVD-team, but with Curator vacancy	2012-05-11 13:18:42
0000000027	00000027	DNA	NGS	-	-	AMPD1, ARSB, ATP7B, CBS, CFTR, DPYD, ETFB, HEXB, MYO5A, NHLRC1, NPC1, NPHS1, SLC26A2	13	LOVD-team, but with Curator vacancy	2012-05-11 13:18:42
0000000028	00000028	DNA	NGS	-	-	ALG1, AMPD1, ATP7B, BTD, CBS, CLN3, CYP21A2, FGG, GALC, GLB1, JAK3, NPHS1, RAG2, RPGRIP1L, SERPINA1, SLC26A2	17	LOVD-team, but with Curator vacancy	2012-05-11 13:18:42
0000000029	00000029	DNA	NGS	-	-	ALG9, ASPM, B3GLCT, BBS1, CBS, CC2D1A, CDK5RAP2, DLG3, DNMT3B, DPM1, DPP3, GLI3, JAG1, KRAS, MECP2, MPDU1, NLGN4X, NSD1, PHF8, PMM2, RAI1, REST, SATB2, SCN8A, SHANK3, SLC35C1, TCF4, TSC1, UPF3B, ZEB2, ZNF41	46	LOVD-team, but with Curator vacancy	2012-05-11 13:18:42
0000000030	00000030	DNA	NGS	-	-	ADA, ATP7B, CPT2, GALC, HEXB, IGHMBP2, NHLRC1, SBDS, SERPINA1, SLC26A2, SMPD1, TTPA, WNT10A	14	LOVD-team, but with Curator vacancy	2012-05-11 13:18:43
0000000031	00000031	DNA	NGS	-	-	ADA, ATP7B, CYP21A2, DPYD, ETFB, FKTN, GAA, GLB1, IGHMBP2, NHLRC1, NPHS1, SERPINA1, TMEM67, WNT10A	19	LOVD-team, but with Curator vacancy	2012-05-11 13:18:43
0000000032	00000032	DNA	NGS	-	-	ADA, ATP7B, BTD, DPYD, GLB1, HEXB, PKHD1, PMM2, RPGRIP1L, SERPINA1, SLC26A2, SMPD1	12	LOVD-team, but with Curator vacancy	2012-05-11 13:18:43
0000000033	00000033	DNA	NGS	-	-	ATP7B, CDH23, CYP21A2, DPYD, ETFB, GAA, HADHA, HESX1, NHLRC1, PHEX, SERPINA1, USH2A	13	LOVD-team, but with Curator vacancy	2012-05-11 13:18:43
0000000034	00000034	DNA	NGS	-	-	ATP7B, CBS, CYP21A2, DPYD, ETFB, GLB1, GNPTAB, IGHMBP2, NHLRC1, SERPINA1, SLC26A2, SMPD1	16	LOVD-team, but with Curator vacancy	2012-05-11 13:18:44
0000000035	00000035	DNA	NGS	-	-	ADA, ATP7B, BLM, CFTR, DPYD, ETFB, GLB1, HBB, IGHMBP2, MYO5A, PKHD1, SERPINA1, SMPD1	17	LOVD-team, but with Curator vacancy	2012-05-11 13:18:44
0000000036	00000036	DNA	NGS	-	-	AHI1, ATP7B, CYP21A2, DPYD, ETFB, GLB1, HEXB, LAMA2, SMPD1	9	LOVD-team, but with Curator vacancy	2012-05-11 13:18:44
0000000037	00000037	DNA	NGS	-	-	ATM, ATP7B, DPYD, ETFB, HEXB, NHLRC1, NPHS1, SBDS, SLC26A2, SLC3A1, SMN1, SMPD1	14	LOVD-team, but with Curator vacancy	2012-05-11 13:18:44
0000000038	00000038	DNA	NGS	-	-	ALS2, ATP7B, CFTR, DPYD, GLB1, HEXB, MTHFR, MYO5A, NHLRC1, SMPD1	10	LOVD-team, but with Curator vacancy	2012-05-11 13:18:45
0000000039	00000039	DNA	NGS	-	-	AHI1, ATP7B, DPYD, ETFB, GAA, GLB1, LAMA2, MTHFR, NPHP4, NPHS1, P3H1, SBDS, SLC26A2	16	LOVD-team, but with Curator vacancy	2012-05-11 13:18:46
0000000040	00000040	DNA	NGS	-	-	ATP7A, DPYD, GLB1, LAMA2	4	LOVD-team, but with Curator vacancy	2012-05-11 13:18:46
0000000041	00000041	DNA	NGS	-	-	ATP7A, ATP7B, DPYD, ETFB, IGHMBP2, MPL, MYO5A, NHLRC1, NPHP4, NPHS1, PLP1, SERPINA1	14	LOVD-team, but with Curator vacancy	2012-05-11 13:18:46
0000000042	00000042	DNA	NGS	-	-	ATP7B, DPYD, ETFB, GLB1, IGHMBP2, JAK3, NPHP4, NPHS1, POLG, QARS, SERPINA1, SLC26A2, SMPD1	13	LOVD-team, but with Curator vacancy	2012-05-11 13:18:46
0000000043	00000043	DNA	NGS	-	-	ATP7B, DPYD, IGHMBP2, MYO5A, NHLRC1, NPHS1, PCK1, SERPINA1, SLC26A2	11	LOVD-team, but with Curator vacancy	2012-05-11 13:18:47
0000000044	00000044	DNA	NGS	-	-	ASS1, ATP7B, DPYD, ETFB, GCDH, GLB1, HADHA, HGSNAT, IGHMBP2, KCNQ2, MKS1, MYO5A	12	LOVD-team, but with Curator vacancy	2012-05-11 13:18:47
0000000045	00000045	DNA	NGS	-	-	ATP2B3, ATP7B, DPYD, IGHMBP2, MYO5A, SERPINA1, SMPD1	7	LOVD-team, but with Curator vacancy	2012-05-11 13:18:47
0000000046	00000046	DNA	NGS	-	-	AGXT, ATP7B, CFTR, CYP27A1, DPYD, EHMT1, GLB1, IGHMBP2, NPHS1, POLG, SERPINA1, SMPD1	15	LOVD-team, but with Curator vacancy	2012-05-11 13:18:48
0000000047	00000047	DNA	NGS	-	-	ATP7B, BCKDHA, DPYD, ETFB, HEXB, IGHMBP2, KMT2A, MEFV, MPL, MYO5A, NHLRC1, NPC1, NPHS1, SERPINA1	16	LOVD-team, but with Curator vacancy	2012-05-11 13:18:48
0000000048	00000048	DNA	NGS	-	-	ATP7B, CPT1A, DPYD, ETFB, GAA, GBA, GLB1, IGHMBP2, LAMA2, MEFV, NHLRC1, NPHS1, SERPINA1	14	LOVD-team, but with Curator vacancy	2012-05-11 13:18:48
0000000049	00000049	DNA	NGS	-	-	ATP7B, CYP21A2, DPYD, ETFB, GALC, GLB1, IGHMBP2, LAMA2, MPL, MYO5A, NPHP4, SERPINA1, SGSH, SLC26A2	16	LOVD-team, but with Curator vacancy	2012-05-11 13:18:49
0000000050	00000050	DNA	NGS	-	-	ADA, ATP7B, CYP21A2, DPYD, ETFB, GLB1, IGHMBP2	9	LOVD-team, but with Curator vacancy	2012-05-11 13:18:49
0000000051	00000051	DNA	NGS	-	-	AGXT, AHI1, ATP7B, DPYD, ETFB, FAH, GALC, GLB1, IGHMBP2, MYO5A, NHLRC1, NPHS1, PKHD1	14	LOVD-team, but with Curator vacancy	2012-05-11 13:18:50
0000000052	00000052	DNA	NGS	-	-	ARSB, DPYD, ERCC4, ETFB, NPHS1	5	LOVD-team, but with Curator vacancy	2012-05-11 13:18:50
0000000053	00000053	DNA	NGS	-	-	AHI1, ATP7B, DMD, DPYD, ETFB, GALC, GLB1, MTHFR, MYO5A, NHLRC1, SERPINA1	11	LOVD-team, but with Curator vacancy	2012-05-11 13:18:50
0000000054	00000054	DNA	NGS	-	-	ATM, ATP7B, DPYD, ETFB, GALC, GLB1, GNPTAB, LAMA2, LAMA3, NHLRC1, NPHS1, SERPINA1, SLC26A2	14	LOVD-team, but with Curator vacancy	2012-05-11 13:18:51
0000000055	00000055	DNA	NGS	-	-	ACADVL, AGXT, ATP7B, DPYD, ETFB, GLB1, HBB, MYO5A, NHLRC1, NPHS1, SERPINA1	12	LOVD-team, but with Curator vacancy	2012-05-11 13:18:51
0000000056	00000056	DNA	NGS	-	-	ACADL, ADA, ASPA, ATP7B, BTD, CYP27A1, DPYD, ETFB, GLB1, HEXB, IGHMBP2, NPHS1, SERPINA1, SLC26A2	15	LOVD-team, but with Curator vacancy	2012-05-11 13:18:52
0000000057	00000057	DNA	NGS	-	-	ALDOB, ATM, ATP7B, DPYD, ERCC6, ETFB, GAA, IGHMBP2, LAMA2, NHLRC1, NPHS1, SERPINA1	15	LOVD-team, but with Curator vacancy	2012-05-11 13:18:52
0000000058	00000058	DNA	NGS	-	-	ALDH5A1, ATP7B, CFTR, CYP21A2, GBA, HEXB, IGHMBP2, MEFV, MYO5A, NHLRC1, NPHS1, PKHD1, PMM2, SERPINA1, SLC26A2, SMPD1	18	LOVD-team, but with Curator vacancy	2012-05-11 13:18:53
0000000059	00000059	DNA	NGS	-	-	ATP7B, GBA, GLB1, IKBKAP, MEFV, NPHS1, SERPINA1	8	LOVD-team, but with Curator vacancy	2012-05-11 13:18:53
0000000060	00000060	DNA	NGS	-	-	ATP7B, CFTR, ENPP1, GBA, GLB1, NHLRC1, NPC2, NPHS1, SMPD1	9	LOVD-team, but with Curator vacancy	2012-05-11 13:18:54
0000000061	00000061	DNA	NGS	-	-	ADA, ATP7B, BTD, ETFB, GLB1, HEXB, HSPG2, MTHFR, POMGNT1, SERPINA1, SMPD1	11	LOVD-team, but with Curator vacancy	2012-05-11 13:18:54
0000000062	00000062	DNA	NGS	-	-	AGXT, ATP7B, CLN3, CYP21A2, ETFB, GALC, GALT, GLB1, HSPG2, IGHMBP2, MEFV, NEB, NPHS1, SERPINA1, SLC26A2, TGM1	16	LOVD-team, but with Curator vacancy	2012-05-11 13:18:54
0000000063	00000063	DNA	NGS	-	-	ADA, ATP7B, COL7A1, ETFB, GLB1, LYST, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1	13	LOVD-team, but with Curator vacancy	2012-05-11 13:18:54
0000000064	00000064	DNA	NGS	-	-	ATP7B, CYP21A2, ETFB, FKTN, GLB1, HEXB, IGHMBP2, LYST, NHLRC1, PMM2, SBDS, SMPD1	12	LOVD-team, but with Curator vacancy	2012-05-11 13:18:55
0000000065	00000065	DNA	NGS	-	-	ATP7B, CFTR, ETFB, GLB1, MPL, NHLRC1, NPHS1, SERPINA1, SMPD1	9	LOVD-team, but with Curator vacancy	2012-05-11 13:18:56
0000000066	00000066	DNA	NGS	-	-	AHI1, ATP7B, HBB, HEXB, IDUA, MPL, NHLRC1, NPHS1, PKHD1, PMM2, SERPINA1, TTN	14	LOVD-team, but with Curator vacancy	2012-05-11 13:18:57
0000000067	00000067	DNA	NGS	-	-	ASPA, ATP7B, CDH23, CPT1A, CYP21A2, ETFB, GALC, GLB1, MEFV, MTHFR, MVK, NHLRC1, NPHS1, SERPINA1, SLC26A2, SMPD1, WNT10A	18	LOVD-team, but with Curator vacancy	2012-05-11 13:18:57
0000000068	00000068	DNA	NGS	-	-	ADA, ATP7B, BMPR2, CDH23, CYP21A2, ENPP1, ETFB, FKTN, HBB, HGSNAT, IGHMBP2, IVD, MTHFR, MYO5A, NPHS1, SERPINA1	18	LOVD-team, but with Curator vacancy	2012-05-11 13:18:57
0000000069	00000069	DNA	NGS	-	-	AHI1, ARSB, ATP7B, CYP27A1, ETFB, GLB1, HEXA, HEXB, LAMA2, MTHFR, MYO5A, NHLRC1, NPHS1, PMM2, SBDS	17	LOVD-team, but with Curator vacancy	2012-05-11 13:18:57
0000000070	00000070	DNA	NGS	-	-	ACADSB, ATP7B, CFTR, ETFB, HBA1, IGHMBP2, MTHFR, MYO5A, SERPINA1, SLC26A2	10	LOVD-team, but with Curator vacancy	2012-05-11 13:18:57
0000000071	00000071	DNA	NGS	-	-	ATP7B, ETFB, LAMA2, MTHFR, NHLRC1, NPC1, OFD1, PAH, SERPINA1, SMPD1	12	LOVD-team, but with Curator vacancy	2012-05-11 13:18:58
0000000072	00000072	DNA	NGS	-	-	ARSB, ATP7B, CYP21A2, ETFB, GLB1, IGHMBP2, MTHFR, NHLRC1, NPHS1, PMM2, PPT1, SERPINA1, SMPD1	17	LOVD-team, but with Curator vacancy	2012-05-11 13:18:59
0000000073	00000073	DNA	NGS	-	-	ATP7B, ETFB, GALT, GLB1, IGHMBP2, MTHFR, NHLRC1, SMPD1	9	LOVD-team, but with Curator vacancy	2012-05-11 13:18:59
0000000074	00000074	DNA	NGS	-	-	AGXT, ATP7B, CFTR, ERCC5, GLB1, MTHFR, NHLRC1, NPHS1, SERPINA1	9	LOVD-team, but with Curator vacancy	2012-05-11 13:18:59
0000000075	00000075	DNA	NGS	-	-	ATP7B, CDH23, ETFB, GAA, HESX1, IGHMBP2, LAMA2, MEFV, NPHP4, SERPINA1	13	LOVD-team, but with Curator vacancy	2012-05-11 13:19:00
0000000076	00000076	DNA	NGS	-	-	ATP7B, BCKDHA, FKRP, GAA, GLB1, HSD17B4, IGHMBP2, MEFV, NHLRC1, NPHS1, PMM2, POMGNT1, PPT1, SERPINA1, SLC26A2	17	LOVD-team, but with Curator vacancy	2012-05-11 13:19:02
0000000077	00000077	DNA	NGS	-	-	AGXT, ATP7B, ETFB, GLB1, MYO5A, NPHS1, SERPINA1, SLC26A2, USH2A	10	LOVD-team, but with Curator vacancy	2012-05-11 13:19:03
0000000078	00000078	DNA	NGS	-	-	ATP7B, CDH23, CFTR, ETFB, GLB1, IGHMBP2, NPHS1, PMM2, POLG, RAG1, SERPINA1, SLC26A2	12	LOVD-team, but with Curator vacancy	2012-05-11 13:19:04
0000000079	00000079	DNA	NGS	-	-	CDH23, GPR98, NHLRC1, NPHS1, SERPINA1	5	LOVD-team, but with Curator vacancy	2012-05-11 13:19:05
0000000080	00000080	DNA	NGS	-	-	ATP7B, CDH23, HBA1, NPHS1, SERPINA1, SMPD1	7	LOVD-team, but with Curator vacancy	2012-05-11 13:19:05
0000000081	00000081	DNA	NGS	-	-	ADAMTS13, ATP7B, CDH23, ETFB, FKTN, GLB1, HEXB, NPHS1, SERPINA1, SMPD1	11	LOVD-team, but with Curator vacancy	2012-05-11 13:19:05
0000000082	00000082	DNA	NGS	-	-	ATP7B, CPT1A, CYP21A2, ETFB, FAH, GLB1, MCOLN1, MYO5A, NHLRC1, NPC2	11	LOVD-team, but with Curator vacancy	2012-05-11 13:19:08
0000000083	00000083	DNA	NGS	-	-	ASPA, ATP7B, CPT1A, CYP27A1, ETFB, GAA, NPHS1, SERPINA1	9	LOVD-team, but with Curator vacancy	2012-05-11 13:19:08
0000000084	00000084	DNA	NGS	-	-	ADA, CPT1A, FKRP, GAA, GLB1, MYO5A, NHLRC1, NPHS1, RAG1, SERPINA1, SMPD1	11	LOVD-team, but with Curator vacancy	2012-05-11 13:19:09
0000000085	00000085	DNA	NGS	-	-	ADA, ATP7B, ETFB, FGG, FKTN, HEXB, IGHMBP2, MYO5A, NHLRC1, PKHD1, POLG, SERPINA1, SGSH	14	LOVD-team, but with Curator vacancy	2012-05-11 13:19:11
0000000086	00000086	DNA	NGS	-	-	ARSB, ATP7B, BTD, ETFB, GLB1, HEXB, HPRT1, IGHMBP2, NHLRC1, POLG, SERPINA1, SLC26A2	13	LOVD-team, but with Curator vacancy	2012-05-11 13:19:14
0000000087	00000087	DNA	NGS	-	-	AHI1, ATP7B, BTD, CYP21A2, ETFB, FRAS1, GLB1, IGHMBP2, NHLRC1, SERPINA1, SLC26A2	11	LOVD-team, but with Curator vacancy	2012-05-11 13:19:14
0000000088	00000088	DNA	NGS	-	-	ATP7B, CFTR, ETFB, FKRP, GALC, GLB1, HEXB, IGHMBP2, NHLRC1, NPHS1, POLG, SBDS, SERPINA1	14	LOVD-team, but with Curator vacancy	2012-05-11 13:19:14
0000000089	00000089	DNA	NGS	-	-	ATP7B, BTD, CFTR, ETFB, GALC, GLB1, IGHMBP2, SMPD1	9	LOVD-team, but with Curator vacancy	2012-05-11 13:19:15
0000000090	00000090	DNA	NGS	-	-	CYP21A2, ERCC4, GLB1, HEXB, IGHMBP2, LAMA2, NHLRC1, NPHS1	8	LOVD-team, but with Curator vacancy	2012-05-11 13:19:16
0000000091	00000091	DNA	NGS	-	-	GALC, IGHMBP2, MYO5A, NHLRC1, SMPD1	5	LOVD-team, but with Curator vacancy	2012-05-11 13:19:17
0000000092	00000092	DNA	NGS	-	-	ATP8B1, ETFB, GLB1, IGHMBP2, LAMA2, MYO5A, NPHS1, SMPD1	8	LOVD-team, but with Curator vacancy	2012-05-11 13:19:17
0000000093	00000093	DNA	NGS	-	-	ATP7A, ATP7B, GLB1, HBA1, SERPINA1, SMPD1	7	LOVD-team, but with Curator vacancy	2012-05-11 13:19:20
0000000094	00000094	DNA	NGS	-	-	AHI1, ARSB, ATP7B, BTD, ENPP1, ETFB, GCDH, GLB1, INVS, MYO5A, NPHS1, SERPINA1, SMPD1	14	LOVD-team, but with Curator vacancy	2012-05-11 13:19:21
0000000095	00000095	DNA	NGS	-	-	ATP7B, CFTR, GLB1, HEXB, NHLRC1, NPHS1, SMPD1	7	LOVD-team, but with Curator vacancy	2012-05-11 13:19:24
0000000096	00000096	DNA	NGS	-	-	AHI1, ATP7B, BTD, COQ2, ETFB, GLB1, HEXB, NHLRC1, SERPINA1, USH1C	11	LOVD-team, but with Curator vacancy	2012-05-11 13:19:25
0000000097	00000097	DNA	NGS	-	-	ETFB, FKTN, GLB1, PAH, SERPINA1	6	LOVD-team, but with Curator vacancy	2012-05-11 13:19:28
0000000098	00000098	DNA	NGS	-	-	ATP7B, GLB1, NHLRC1, SERPINA1	5	LOVD-team, but with Curator vacancy	2012-05-11 13:19:34
0000000099	00000099	DNA	NGS	-	-	ARSB, ATP7B, ETFB, HESX1, HGSNAT, LAMA2, NHLRC1, SERPINA1, SLC26A2, TMEM216	10	LOVD-team, but with Curator vacancy	2012-05-11 13:19:38
0000000100	00000100	DNA	NGS	-	-	ADAMTS13, ATP7B, CFTR, ETFB, HADHA, HESX1, HGSNAT, LAMA2, NHLRC1, NPHS1, PKHD1, SERPINA1	12	LOVD-team, but with Curator vacancy	2012-05-11 13:19:41

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