All screenings for gene COL3A1

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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
ARMS = amplification refractory mutation system
arrayCGH = array for Comparative Genomic Hybridisation
arrayMET = array for methylation analysis
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 = single 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-RNA = next-generation sequencing RNA
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

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

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.

1428 entries on 15 pages. Showing entries 1 - 100.

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Screening ID	Individual ID	Template	Technique	Tissue	Remarks	Variants found	Owner
0000050648	00050703	DNA	SEQ;SEQ-NG-I	-	-	1	Johan den Dunnen
0000081404	00081291	DNA	SEQ	-	-	1	Gemeinschaftspraxis für Humangenetik Dresden
0000145750	00144893	DNA	SEQ-NG	-	-	1	Gemeinschaftspraxis für Humangenetik Dresden
0000164916	00164048	DNA	SEQ-NG	-	-	1	Gemeinschaftspraxis für Humangenetik Dresden
0000182174	00181216	DNA	SEQ-NG	-	-	1	Gemeinschaftspraxis für Humangenetik Dresden
0000290011	00288843	DNA	?	blood	whole exome sequencing	1	Tingting Wan
0000290212	00289044	DNA	SEQ-NG	-	-	1	Gemeinschaftspraxis für Humangenetik Dresden
0000307298	00306166	DNA	SEQ-NG-IT	blood	-	1	Philippe Khau Van Kien
0000307301	00306168	DNA	SEQ-NG-IT	blood	-	1	Philippe Khau Van Kien
0000319377	00318196	DNA	SEQ	-	-	1	Xavier Jeunemaitre
0000319378	00318197	DNA;RNA	PCR; PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319379	00318198	DNA	SEQ-NG;PCRm;PCR;arraySEQ	-	-	1	Raymond Dalgleish
0000319380	00318199	DNA	SEQ	-	-	1	Xavier Jeunemaitre
0000319381	00318200	DNA	PCR;SEQ;SEQ-NG	-	-	1	Raymond Dalgleish
0000319382	00318201	DNA	SEQ	-	-	1	Raymond Dalgleish
0000319383	00318202	DNA	PCR;SEQ	-	-	1	Raymond Dalgleish
0000319384	00318203	DNA	SEQ-NG	-	-	1	Ruwan Weerakkody
0000319385	00318204	DNA	SEQ	-	-	1	Xavier Jeunemaitre
0000319386	00318205	DNA	SEQ-NG	-	-	2	Alessandra Maugeri
0000319387	00318206	DNA	SEQ-NG	-	-	1	Alessandra Maugeri
0000319388	00318207	DNA	PCR;SEQ	-	-	1	Peter Byers
0000319389	00318208	RNA	RT-PCR;SEQ	-	-	1	Raymond Dalgleish
0000319390	00318209	RNA	RT-PCR;SEQ	-	-	1	Raymond Dalgleish
0000319391	00318210	DNA	MLPA;RT-PCR;SEQ	-	-	1	Raymond Dalgleish
0000319392	00318211	DNA	SEQ	-	-	1	Xavier Jeunemaitre
0000319393	00318212	DNA	PCR;SEQ	-	-	1	Raymond Dalgleish
0000319394	00318213	DNA	SEQ-NG;PCRm	-	-	1	Raymond Dalgleish
0000319395	00318214	DNA	SEQ;MCA	-	-	1	Raymond Dalgleish
0000319396	00318215	DNA	SEQ	-	-	1	Xavier Jeunemaitre
0000319397	00318216	DNA;RNA	PCR; PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319398	00318217	RNA	RT-PCR;SEQ;SSCA	-	-	1	Peter Byers
0000319399	00318218	RNA	RT-PCR;SEQ;SSCA	-	-	1	Peter Byers
0000319400	00318219	RNA	RT-PCR;SEQ;SSCA	-	-	1	Peter Byers
0000319401	00318220	RNA	RT-PCR;SEQ;SSCA	-	-	1	Peter Byers
0000319402	00318221	RNA	RT-PCR;SEQ;SSCA	-	-	1	Peter Byers
0000319403	00318222	RNA	RT-PCR;SEQ;SSCA	-	-	1	Peter Byers
0000319404	00318223	RNA	RT-PCR;SEQ;SSCA	-	-	1	Peter Byers
0000319405	00318224	DNA	SEQ	-	-	1	Javier Garcia-Planells
0000319406	00318225	?	?	-	-	1	Raymond Dalgleish
0000319407	00318226	DNA	SEQ	-	-	1	Xavier Jeunemaitre
0000319408	00318227	DNA;RNA	PCR;RT-PCR;SEQ	-	-	1	Peter Byers
0000319409	00318228	DNA	SEQ	-	-	1	Peter Byers
0000319410	00318229	DNA	SEQ	-	-	1	Peter Byers
0000319411	00318230	DNA;RNA	PCR; PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319412	00318231	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319413	00318232	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319414	00318233	DNA	SEQ	-	-	1	Peter Byers
0000319415	00318234	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319416	00318235	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319417	00318236	DNA	SEQ	-	-	1	Peter Byers
0000319418	00318237	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319419	00318238	DNA	SEQ	-	-	1	Xavier Jeunemaitre
0000319420	00318239	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319421	00318240	RNA	RT-PCR;SEQ;SSCA	-	-	1	Peter Byers
0000319422	00318241	RNA	RT-PCR;SEQ;SSCA	-	-	1	Peter Byers
0000319423	00318242	DNA	SEQ	-	-	1	Xavier Jeunemaitre
0000319424	00318243	DNA	IHC;SEQ;Western	-	-	1	Zhi Xu
0000319425	00318244	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319426	00318245	DNA	SEQ	-	-	1	Javier Garcia-Planells
0000319427	00318246	RNA	RT-PCR;SEQ;HD	-	-	1	Peter Byers
0000319428	00318247	DNA	SEQ	-	-	1	Peter Byers
0000319429	00318248	DNA	SEQ-NG	-	-	1	Alessandra Maugeri
0000319430	00318249	DNA	SEQ	-	-	1	Xavier Jeunemaitre
0000319431	00318250	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319432	00318251	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319433	00318252	DNA	?	-	-	1	Raymond Dalgleish
0000319434	00318253	DNA	PCR;SEQ	-	-	1	Xavier Jeunemaitre
0000319435	00318254	DNA	PCR;SEQ	-	-	1	Xavier Jeunemaitre
0000319436	00318255	DNA	SEQ	-	-	1	Xavier Jeunemaitre
0000319437	00318256	RNA	RT-PCR;SEQ;SSCA	-	-	1	Peter Byers
0000319438	00318257	DNA;RNA	PCR;RT-PCR;SEQ	-	-	1	Peter Byers
0000319439	00318258	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319440	00318259	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319441	00318260	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319442	00318261	DNA	SEQ	-	-	1	Xavier Jeunemaitre
0000319443	00318262	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319444	00318263	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319445	00318264	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319446	00318265	DNA;RNA	PCR;RT-PCR;SEQ	-	-	1	Raymond Dalgleish
0000319447	00318266	DNA;RNA	PCR;RT-PCR;SEQ	-	-	1	Raymond Dalgleish
0000319448	00318267	DNA;RNA	RT-PCR;SEQ;Southern	-	-	1	Peter Byers
0000319449	00318268	DNA	SEQ-NG	-	-	1	Raymond Dalgleish
0000319450	00318269	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319451	00318270	DNA	PCR;SEQ	-	-	1	Marco Ritelli, Marina Colombi
0000319452	00318271	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319453	00318272	DNA	SEQ	-	-	1	Peter Byers
0000319454	00318273	RNA	RT-PCR;SEQ;SSCA	-	-	1	Peter Byers
0000319455	00318274	RNA	RT-PCR;SEQ;SSCA	-	-	1	Peter Byers
0000319456	00318275	RNA	NUC;RT-PCR;SEQ	-	-	1	Raymond Dalgleish
0000319457	00318276	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319458	00318277	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319459	00318278	DNA	PCR;SEQ	-	-	1	Raymond Dalgleish
0000319460	00318279	DNA	PCR;SEQ	-	-	1	Marco Ritelli, Marina Colombi
0000319461	00318280	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319462	00318281	RNA	NUC;RT-PCR;SEQ	-	-	1	Raymond Dalgleish
0000319463	00318282	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319464	00318283	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319465	00318284	DNA;RNA	PCR; RT-PCR; SEQ	-	-	1	Peter Byers
0000319466	00318285	DNA;RNA	PCR;RT-PCR;SEQ	-	-	1	Peter Byers
0000319467	00318286	DNA;RNA	PCR;RT-PCR;SEQ	-	-	1	Peter Byers

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Global Variome shared LOVD

COL3A1 (collagen type III alpha 1 chain)