Global Variome shared LOVD
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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)
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
PE = primer extension (APEX, SNaPshot)
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.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Genes screened
Variants found
Owner
Date created
0000000001
00000001
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
ACADM, APTX, ATP7B, GALC, MTHFR, SERPINA1, SGSH, SLC26A2
9
LOVD-team, but with Curator vacancy
2012-05-11 13:18:37
0000000007
00000007
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
AGL, ATP7B, COL7A1, HADHA, MEFV, NHLRC1, PAH, SMPD1
8
LOVD-team, but with Curator vacancy
2012-05-11 13:18:38
0000000014
00000014
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
ALPL, BTD, CBS, DKC1, ETFB, GLB1, SBDS, SERPINA1
7
LOVD-team, but with Curator vacancy
2012-05-11 13:18:41
0000000022
00000022
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
AMPD1, ATP7B, CBS, CPT1A, ETFB, GLB1, GRHPR, HEXB, INVS, MECP2, MEFV, NHLRC1, NPHS1, NTRK1, SERPINA1, SLC26A2
16
LOVD-team, but with Curator vacancy
2012-05-11 13:18:42
0000000027
00000027
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
45
LOVD-team, but with Curator vacancy
2012-05-11 13:18:42
0000000030
00000030
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
ADA, ATP7B, CYP21A2, DPYD, ETFB, FKTN, GAA, GLB1, IGHMBP2, NHLRC1, NPHS1, SERPINA1, TMEM67, WNT10A
17
LOVD-team, but with Curator vacancy
2012-05-11 13:18:43
0000000033
00000033
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
ATM, ATP7B, DPYD, ETFB, HEXB, NHLRC1, NPHS1, SBDS, SLC26A2, SLC3A1, SMN1, SMPD1
13
LOVD-team, but with Curator vacancy
2012-05-11 13:18:44
0000000038
00000038
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
AHI1, ATP7B, DPYD, ETFB, GAA, GLB1, LAMA2, MTHFR, NPHP4, NPHS1, P3H1, SBDS, SLC26A2
14
LOVD-team, but with Curator vacancy
2012-05-11 13:18:46
0000000040
00000040
DNA
SEQ-NG
-
-
ATP7A, DPYD, GLB1, LAMA2
4
LOVD-team, but with Curator vacancy
2012-05-11 13:18:46
0000000041
00000041
DNA
SEQ-NG
-
-
ATP7A, ATP7B, DPYD, ETFB, IGHMBP2, MPL, MYO5A, NHLRC1, NPHP4, NPHS1, PLP1, SERPINA1
13
LOVD-team, but with Curator vacancy
2012-05-11 13:18:46
0000000042
00000042
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
ATP2B3, ATP7B, DPYD, IGHMBP2, MYO5A, SERPINA1, SMPD1
7
LOVD-team, but with Curator vacancy
2012-05-11 13:18:47
0000000046
00000046
DNA
SEQ-NG
-
-
AGXT, ATP7B, CFTR, CYP27A1, DPYD, EHMT1, GLB1, IGHMBP2, NPHS1, POLG, SERPINA1, SMPD1
14
LOVD-team, but with Curator vacancy
2012-05-11 13:18:48
0000000047
00000047
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
ADA, ATP7B, CYP21A2, DPYD, ETFB, GLB1, IGHMBP2
9
LOVD-team, but with Curator vacancy
2012-05-11 13:18:49
0000000051
00000051
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
ARSB, DPYD, ERCC4, ETFB, NPHS1
5
LOVD-team, but with Curator vacancy
2012-05-11 13:18:50
0000000053
00000053
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
ATM, ATP7B, DPYD, ETFB, GALC, GLB1, GNPTAB, LAMA2, LAMA3, NHLRC1, NPHS1, SERPINA1, SLC26A2
13
LOVD-team, but with Curator vacancy
2012-05-11 13:18:51
0000000055
00000055
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
ATP7B, GBA, GLB1, IKBKAP, MEFV, NPHS1, SERPINA1
8
LOVD-team, but with Curator vacancy
2012-05-11 13:18:53
0000000060
00000060
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
ATP7B, ETFB, GALT, GLB1, IGHMBP2, MTHFR, NHLRC1, SMPD1
9
LOVD-team, but with Curator vacancy
2012-05-11 13:18:59
0000000074
00000074
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
CDH23, GPR98, NHLRC1, NPHS1, SERPINA1
5
LOVD-team, but with Curator vacancy
2012-05-11 13:19:05
0000000080
00000080
DNA
SEQ-NG
-
-
ATP7B, CDH23, HBA1, NPHS1, SERPINA1, SMPD1
7
LOVD-team, but with Curator vacancy
2012-05-11 13:19:05
0000000081
00000081
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
ASPA, ATP7B, CPT1A, CYP27A1, ETFB, GAA, NPHS1, SERPINA1
9
LOVD-team, but with Curator vacancy
2012-05-11 13:19:08
0000000084
00000084
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
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
SEQ-NG
-
-
ATP7B, BTD, CFTR, ETFB, GALC, GLB1, IGHMBP2, SMPD1
9
LOVD-team, but with Curator vacancy
2012-05-11 13:19:15
0000000090
00000090
DNA
SEQ-NG
-
-
CYP21A2, ERCC4, GLB1, HEXB, IGHMBP2, LAMA2, NHLRC1, NPHS1
8
LOVD-team, but with Curator vacancy
2012-05-11 13:19:16
0000000091
00000091
DNA
SEQ-NG
-
-
GALC, IGHMBP2, MYO5A, NHLRC1, SMPD1
5
LOVD-team, but with Curator vacancy
2012-05-11 13:19:17
0000000092
00000092
DNA
SEQ-NG
-
-
ATP8B1, ETFB, GLB1, IGHMBP2, LAMA2, MYO5A, NPHS1, SMPD1
8
LOVD-team, but with Curator vacancy
2012-05-11 13:19:17
0000000093
00000093
DNA
SEQ-NG
-
-
ATP7A, ATP7B, GLB1, HBA1, SERPINA1, SMPD1
7
LOVD-team, but with Curator vacancy
2012-05-11 13:19:20
0000000094
00000094
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
ATP7B, CFTR, GLB1, HEXB, NHLRC1, NPHS1, SMPD1
7
LOVD-team, but with Curator vacancy
2012-05-11 13:19:24
0000000096
00000096
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
ETFB, FKTN, GLB1, PAH, SERPINA1
6
LOVD-team, but with Curator vacancy
2012-05-11 13:19:28
0000000098
00000098
DNA
SEQ-NG
-
-
ATP7B, GLB1, NHLRC1, SERPINA1
5
LOVD-team, but with Curator vacancy
2012-05-11 13:19:34
0000000099
00000099
DNA
SEQ-NG
-
-
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
SEQ-NG
-
-
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
0000000101
00000101
DNA
SEQ-NG
-
-
ATP7B, ETFB, GLB1, NPHS1, SERPINA1
6
LOVD-team, but with Curator vacancy
2012-05-11 13:19:44
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