Global Variome shared LOVD
COL2A1 (collagen, type II, alpha 1)
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Curators:
Mouna Barat-Houari
and
Isabelle Touitou
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All screenings for gene COL2A1
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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.
967 entries on 10 pages. Showing entries 1 - 100.
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How to query
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000024270
00024278
DNA
Southern;SEQ
-
-
1
Johan den Dunnen
0000024271
00024279
DNA
SEQ
-
-
2
Johan den Dunnen
0000024272
00024280
DNA
SEQ
-
-
2
Johan den Dunnen
0000024273
00024281
DNA
PCRdig
-
-
1
Johan den Dunnen
0000024274
00024282
DNA;RNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000024275
00024283
DNA
SEQ
-
-
1
Johan den Dunnen
0000024276
00024284
DNA
SEQ
-
-
1
Johan den Dunnen
0000024277
00024285
DNA
SEQ
-
-
1
Johan den Dunnen
0000024278
00024286
DNA
SEQ
-
-
1
Johan den Dunnen
0000024279
00024287
DNA
SEQ
-
-
1
Johan den Dunnen
0000024280
00024288
DNA
SEQ
-
-
1
Johan den Dunnen
0000024281
00024289
DNA
SEQ
-
-
1
Johan den Dunnen
0000024282
00024290
DNA
SEQ
-
-
1
Johan den Dunnen
0000024283
00024291
DNA
SEQ
blood
-
1
Johan den Dunnen
0000024284
00024292
DNA
SEQ
-
-
1
Johan den Dunnen
0000024285
00024293
DNA
SEQ
-
-
1
Johan den Dunnen
0000024286
00024294
DNA
SEQ
-
-
1
Johan den Dunnen
0000024287
00024295
DNA
SEQ
-
-
1
Johan den Dunnen
0000024288
00024296
DNA
SEQ
-
-
1
Johan den Dunnen
0000024289
00024297
DNA
SEQ
-
-
1
Johan den Dunnen
0000024290
00024298
DNA
SEQ
-
-
1
Johan den Dunnen
0000024291
00024299
DNA
SEQ
-
-
1
Johan den Dunnen
0000024292
00024300
DNA;RNA
RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000024293
00024301
DNA;RNA
RT-PCR;SSCA;SEQ
-
-
1
Johan den Dunnen
0000024294
00024302
DNA
SEQ
-
-
1
Johan den Dunnen
0000024295
00024303
DNA
SEQ
-
-
1
Johan den Dunnen
0000024296
00024304
DNA;RNA
SEQ
-
-
1
Johan den Dunnen
0000024297
00024305
DNA
SEQ
-
-
1
Johan den Dunnen
0000024298
00024306
DNA
SEQ
-
-
1
Johan den Dunnen
0000024299
00024307
DNA
SEQ
-
-
1
Johan den Dunnen
0000024300
00024308
DNA
DGGE;SEQ
-
-
1
Isabelle Touitou
0000024301
00024309
DNA
SEQ
-
-
1
Johan den Dunnen
0000024302
00024310
DNA
SEQ
-
-
1
Johan den Dunnen
0000024303
00024311
DNA
EMC;SEQ
-
-
1
Johan den Dunnen
0000024304
00024312
DNA
SEQ
-
-
1
Johan den Dunnen
0000024305
00024313
DNA
SEQ
-
-
1
Johan den Dunnen
0000024306
00024314
DNA
SEQ
-
-
1
Johan den Dunnen
0000024307
00024315
DNA
SEQ
-
-
1
Johan den Dunnen
0000024308
00024316
DNA
SEQ
-
-
1
Johan den Dunnen
0000024309
00024317
DNA
SEQ
-
-
1
Johan den Dunnen
0000024310
00024318
DNA
SEQ
-
-
1
Johan den Dunnen
0000024311
00024319
DNA
SEQ
-
-
1
Johan den Dunnen
0000024312
00024320
DNA;RNA;protein
HPLC;SEQ
-
-
1
Johan den Dunnen
0000024313
00024321
DNA
SEQ
-
-
1
Johan den Dunnen
0000024314
00024322
DNA;RNA;protein
HPLC;SEQ
-
-
1
Johan den Dunnen
0000024315
00024323
DNA
SEQ;SSCA
-
-
1
Johan den Dunnen
0000024316
00024324
DNA
SEQ
-
-
1
Johan den Dunnen
0000024317
00024325
DNA
SEQ
-
-
1
Johan den Dunnen
0000024318
00024326
DNA
SEQ
-
-
1
Johan den Dunnen
0000024319
00024327
DNA
CSCE;SEQ
-
-
1
Johan den Dunnen
0000024320
00024328
DNA
CSCE;SEQ
-
-
1
Johan den Dunnen
0000024321
00024329
DNA
CSCE;SEQ
-
-
1
Johan den Dunnen
0000024322
00024330
DNA
CSCE;SEQ
-
-
1
Johan den Dunnen
0000024323
00024331
DNA
CSCE;SEQ
-
-
1
Johan den Dunnen
0000024324
00024332
DNA
CSCE;SEQ
-
-
1
Johan den Dunnen
0000024325
00024333
DNA
CSCE;SEQ
-
-
1
Johan den Dunnen
0000024326
00024334
DNA
SEQ
-
-
1
Johan den Dunnen
0000024327
00024335
DNA;RNA
PTT;RT-PCR;SEQ
-
-
1
Johan den Dunnen
0000024328
00024336
DNA
SEQ
-
-
1
Isabelle Touitou
0000024329
00024337
DNA
SEQ
-
-
1
Isabelle Touitou
0000024330
00024338
DNA
SEQ
-
-
1
Isabelle Touitou
0000024331
00024339
DNA
SEQ
-
-
1
Isabelle Touitou
0000024332
00024340
DNA
SEQ
-
-
1
Isabelle Touitou
0000024333
00024341
DNA
SEQ
-
-
1
Isabelle Touitou
0000024334
00024342
DNA
SEQ
-
-
1
Isabelle Touitou
0000024335
00024343
DNA
SEQ
-
-
1
Johan den Dunnen
0000024336
00024344
DNA
SEQ
-
-
1
Johan den Dunnen
0000024337
00024345
DNA
SEQ
-
-
1
Johan den Dunnen
0000024338
00024346
DNA
SEQ
-
-
1
Johan den Dunnen
0000024339
00024347
DNA
SEQ
-
-
1
Johan den Dunnen
0000024340
00024348
DNA
SEQ
-
-
1
Isabelle Touitou
0000024341
00024349
DNA
SEQ
-
-
1
Isabelle Touitou
0000024342
00024350
DNA
SEQ
-
-
1
Isabelle Touitou
0000024343
00024351
DNA
SEQ
-
-
1
Isabelle Touitou
0000024344
00024352
DNA
SEQ
-
-
1
Isabelle Touitou
0000024345
00024353
DNA
SEQ
-
-
1
Isabelle Touitou
0000024346
00024354
DNA
SEQ
-
-
1
Isabelle Touitou
0000024347
00024355
DNA
SEQ
-
-
1
Isabelle Touitou
0000024348
00024356
DNA
SEQ
-
-
1
Isabelle Touitou
0000024349
00024357
DNA
SEQ
-
-
1
Isabelle Touitou
0000024350
00024358
DNA
SEQ
-
-
1
Isabelle Touitou
0000024351
00024359
DNA
SEQ
-
-
1
Isabelle Touitou
0000024352
00024360
DNA
SEQ
-
-
1
Johan den Dunnen
0000024353
00024361
DNA
SEQ
-
-
1
Isabelle Touitou
0000024354
00024362
DNA;RNA
RT-PCR;SEQ
-
-
1
Isabelle Touitou
0000024355
00024363
DNA
SEQ
-
-
1
Johan den Dunnen
0000024356
00024364
DNA
SEQ
-
-
1
Johan den Dunnen
0000024357
00024365
DNA
SEQ
-
-
1
Johan den Dunnen
0000024358
00024366
DNA
SEQ
-
-
1
Johan den Dunnen
0000024359
00024367
DNA
SEQ
-
-
1
Johan den Dunnen
0000024360
00024368
DNA
DHPLC;SEQ
-
-
1
Isabelle Touitou
0000024361
00024369
DNA
DHPLC;SEQ
-
-
1
Isabelle Touitou
0000024362
00024370
DNA
DHPLC;SEQ
-
-
1
Isabelle Touitou
0000024363
00024371
DNA
DHPLC;SEQ
-
-
1
Isabelle Touitou
0000024364
00024372
DNA
DHPLC;SEQ
-
-
1
Isabelle Touitou
0000024365
00024373
DNA
SEQ
-
-
1
Johan den Dunnen
0000024366
00024374
DNA
SEQ
-
-
1
Johan den Dunnen
0000024367
00024375
DNA
SEQ
-
-
1
Johan den Dunnen
0000024368
00024376
DNA
SEQ
-
-
1
Johan den Dunnen
0000024369
00024377
DNA
SEQ
-
-
1
Johan den Dunnen
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