Global Variome shared LOVD
DPYD (dihydropyrimidine dehydrogenase)
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Curator:
Global Variome, with Curator vacancy
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View all transcripts of gene DPYD
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View all variants affecting transcripts
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View all variants in gene DPYD
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View all diseases associated with gene DPYD
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All screenings for gene DPYD
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Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
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
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)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
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 = microscopic analysis (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
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
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)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
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
SEQms = sequencing, methylation specific
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
- = not applicable
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.
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
78 entries on 1 page. Showing entries 1 - 78.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000000003
00000003
DNA
SEQ-NG
-
-
15
Global Variome, with Curator vacancy
0000000004
00000004
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000011
00000011
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000012
00000012
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000014
00000014
DNA
SEQ-NG
-
-
22
Global Variome, with Curator vacancy
0000000015
00000015
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000016
00000016
DNA
SEQ-NG
-
-
10
Global Variome, with Curator vacancy
0000000017
00000017
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000018
00000018
DNA
SEQ-NG
-
-
15
Global Variome, with Curator vacancy
0000000022
00000022
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000023
00000023
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000024
00000024
DNA
SEQ-NG
-
-
15
Global Variome, with Curator vacancy
0000000027
00000027
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000031
00000031
DNA
SEQ-NG
-
-
17
Global Variome, with Curator vacancy
0000000033
00000033
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000034
00000034
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000035
00000035
DNA
SEQ-NG
-
-
17
Global Variome, with Curator vacancy
0000000036
00000036
DNA
SEQ-NG
-
-
9
Global Variome, with Curator vacancy
0000000037
00000037
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000038
00000038
DNA
SEQ-NG
-
-
9
Global Variome, with Curator vacancy
0000000039
00000039
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000040
00000040
DNA
SEQ-NG
-
-
4
Global Variome, with Curator vacancy
0000000041
00000041
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000042
00000042
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000043
00000043
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000044
00000044
DNA
SEQ-NG
-
-
12
Global Variome, with Curator vacancy
0000000045
00000045
DNA
SEQ-NG
-
-
7
Global Variome, with Curator vacancy
0000000046
00000046
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000047
00000047
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000048
00000048
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000049
00000049
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000050
00000050
DNA
SEQ-NG
-
-
9
Global Variome, with Curator vacancy
0000000051
00000051
DNA
SEQ-NG
-
-
14
Global Variome, with Curator vacancy
0000000052
00000052
DNA
SEQ-NG
-
-
5
Global Variome, with Curator vacancy
0000000053
00000053
DNA
SEQ-NG
-
-
11
Global Variome, with Curator vacancy
0000000054
00000054
DNA
SEQ-NG
-
-
13
Global Variome, with Curator vacancy
0000000055
00000055
DNA
SEQ-NG
-
-
12
Global Variome, with Curator vacancy
0000000056
00000056
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000000057
00000057
DNA
SEQ-NG
-
-
16
Global Variome, with Curator vacancy
0000017020
00017040
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000017021
00017041
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000017022
00017042
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000017023
00017043
DNA;RNA
RT-PCR;SEQ
-
-
Not yet submitted
Johan den Dunnen
0000017024
00017044
DNA
SEQ
-
-
3
Johan den Dunnen
0000017550
00017570
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017551
00017571
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017552
00017572
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017553
00017573
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017554
00017574
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000017555
00017575
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000017556
00017576
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000017557
00017577
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017566
00017583
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017567
00017584
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000017568
00017585
DNA
SEQ
-
-
1
Johan den Dunnen
0000017569
00017586
DNA
SEQ
-
-
3
Johan den Dunnen
0000017570
00017587
DNA
SEQ
-
-
3
Johan den Dunnen
0000017571
00017588
DNA
SEQ
-
-
2
Johan den Dunnen
0000017572
00017589
DNA
SEQ
-
-
2
Johan den Dunnen
0000017573
00017590
DNA
SEQ
-
-
1
Johan den Dunnen
0000017574
00017591
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017575
00017592
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017576
00017593
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000017577
00017594
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000017578
00017595
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000019526
00019541
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000101653
00101228
DNA
SEQ
-
-
1
Johan den Dunnen
0000106635
00106166
DNA
SEQ
-
-
1
Johan den Dunnen
0000156601
00155716
DNA;RNA
RT-PCR;SEQ;SEQ-NG-I
-
-
1
Maja Tarailo-Graovac
0000229751
00228661
DNA
SEQ
-
-
1
Johan den Dunnen
0000229752
00228662
DNA
SEQ
-
-
1
Johan den Dunnen
0000229753
00228663
DNA
SEQ
-
-
1
Johan den Dunnen
0000229754
00228664
DNA
SEQ
-
-
1
Johan den Dunnen
0000229755
00228665
DNA;RNA
RT-PCR;SEQ
-
-
20
Johan den Dunnen
0000229756
00228666
DNA
SEQ
-
-
2
Johan den Dunnen
0000290604
00289434
DNA
SEQ-NG
-
-
1
Nedal Bukhari
0000316062
00314888
DNA
SEQ;SEQ-NG
-
trio WES
1
Johan den Dunnen
0000325652
00324460
DNA
SEQ;SEQ-NG
-
gene panel
1
Johan den Dunnen
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