Global Variome shared LOVD
ABCA12 (ATP-binding cassette, sub-family A (ABC1), ...)
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All screenings for gene ABCA12
Legend
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.
65 entries on 1 page. Showing entries 1 - 65.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000019684
00019697
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019685
00019698
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019686
00019699
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019687
00019700
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019688
00019701
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019689
00019702
DNA
SEQ
?
-
2
Marianne Vos (LOVD-team)
0000019690
00019703
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019691
00019704
DNA
SEQ
?
-
3
Marianne Vos (LOVD-team)
0000019692
00019705
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019693
00019706
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019694
00019707
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019695
00019708
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019696
00019709
DNA
DHPLC;SEQ
?
-
2
Marianne Vos (LOVD-team)
0000019697
00019710
DNA
DHPLC;SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019698
00019711
DNA
DHPLC;SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019699
00019712
DNA
DHPLC;SEQ
?
-
2
Marianne Vos (LOVD-team)
0000019700
00019713
DNA
DHPLC;SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019701
00019714
DNA
DHPLC;SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019702
00019715
DNA
DHPLC;SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019703
00019716
DNA
DHPLC;SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019704
00019717
DNA
DHPLC;SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019705
00019718
DNA
DHPLC;SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019706
00019719
DNA
DHPLC;SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019707
00019720
DNA
DHPLC;SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019708
00019721
DNA
DHPLC;SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019709
00019722
DNA
DHPLC;SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019718
00019733
DNA
SEQ
blood
-
1
Marianne Vos (LOVD-team)
0000019719
00019734
DNA
SEQ
blood
-
1
Marianne Vos (LOVD-team)
0000019720
00019735
DNA
SEQ
blood
-
1
Marianne Vos (LOVD-team)
0000019721
00019736
DNA
SEQ
blood
-
1
Marianne Vos (LOVD-team)
0000019722
00019737
DNA
SEQ
blood
-
1
Marianne Vos (LOVD-team)
0000019723
00019738
DNA
SEQ
blood
-
1
Marianne Vos (LOVD-team)
0000019724
00019739
DNA
SEQ
blood
-
1
Marianne Vos (LOVD-team)
0000019725
00019740
DNA
SEQ
blood
-
2
Marianne Vos (LOVD-team)
0000019726
00019741
DNA
SEQ
blood
-
2
Marianne Vos (LOVD-team)
0000019727
00019742
DNA
SEQ
blood
-
1
Marianne Vos (LOVD-team)
0000019728
00019743
DNA
SEQ
blood
-
1
Marianne Vos (LOVD-team)
0000019729
00019744
DNA
SEQ
blood
-
1
Marianne Vos (LOVD-team)
0000019730
00019745
DNA
SEQ
?
-
2
Marianne Vos (LOVD-team)
0000019731
00019746
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019732
00019747
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019733
00019748
DNA
SEQ
?
-
2
Marianne Vos (LOVD-team)
0000019734
00019749
DNA;RNA
RT-PCR;SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019735
00019750
DNA
SEQ
?
-
2
Marianne Vos (LOVD-team)
0000019736
00019751
DNA
SEQ
?
-
2
Marianne Vos (LOVD-team)
0000019737
00019752
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019738
00019753
DNA
SEQ
?
-
2
Marianne Vos (LOVD-team)
0000019739
00019754
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019740
00019755
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019741
00019756
DNA
SEQ
?
-
2
Marianne Vos (LOVD-team)
0000019742
00019757
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019743
00019758
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019744
00019759
DNA;RNA
RT-PCR;SEQ
?
-
2
Marianne Vos (LOVD-team)
0000019747
00019762
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019748
00019763
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019749
00019764
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019750
00019765
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019751
00019766
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019752
00019767
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019753
00019768
DNA
SEQ
?
-
2
Marianne Vos (LOVD-team)
0000019754
00019769
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019755
00019770
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000019756
00019771
DNA
SEQ
?
-
1
Marianne Vos (LOVD-team)
0000080913
00080801
DNA
SEQ;SEQ-NG
-
-
2
Daniel Trujillano
0000325612
00324422
DNA
SEQ;SEQ-NG
-
WES
1
Johan den Dunnen
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