Global Variome shared LOVD
COL4A3 (collagen, type IV, alpha 3 (Goodpasture an...))
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Curator:
Judy Savige
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All screenings for gene COL4A3
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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
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
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
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|
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.
688 entries on 7 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
0000091445
00091300
DNA
HD;SSCA;SEQ
-
-
1
Judy Savige
0000091446
00091301
DNA
SSCA;SEQ
-
-
2
Judy Savige
0000091447
00091302
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091448
00091303
DNA
HD;SSCA;SEQ
-
-
2
Judy Savige
0000091449
00091304
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091450
00091305
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091451
00091306
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091452
00091307
DNA;RNA
SSCA;RT-PCR;SEQ
-
-
1
Judy Savige
0000091453
00091308
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091454
00091309
DNA
HD;SSCA;SEQ
-
-
1
Judy Savige
0000091455
00091310
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091456
00091311
DNA
HD;SSCA;SEQ
-
-
1
Judy Savige
0000091457
00091312
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091458
00091313
DNA
HD;SSCA;SEQ
-
-
1
Judy Savige
0000091459
00091314
DNA
EMC;SSCA;SEQ
-
-
1
Judy Savige
0000091460
00091315
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091461
00091316
DNA
SEQ
-
-
1
Judy Savige
0000091462
00091317
DNA;RNA
SSCA;RT-PCR;SEQ
-
-
1
Judy Savige
0000091463
00091318
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091464
00091319
DNA
SEQ
-
-
1
Judy Savige
0000091465
00091320
DNA
SEQ
-
-
1
Judy Savige
0000091466
00091321
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091467
00091322
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091468
00091323
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091469
00091324
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091470
00091325
DNA
SEQ
-
-
1
Judy Savige
0000091471
00091326
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091472
00091327
DNA
HD;SSCA;SEQ
-
-
1
Judy Savige
0000091473
00091328
DNA;RNA
SSCA;RT-PCR;SEQ
-
-
1
Judy Savige
0000091474
00091329
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091475
00091330
DNA
EMC;SSCA;SEQ
-
-
1
Judy Savige
0000091476
00091331
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091477
00091332
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091478
00091333
DNA
EMC;SSCA;SEQ
-
-
1
Judy Savige
0000091479
00091334
DNA;RNA
SSCA;RT-PCR;SEQ
-
-
2
Judy Savige
0000091480
00091335
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091481
00091336
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091482
00091337
DNA
HD;SSCA;SEQ
-
-
1
Judy Savige
0000091483
00091338
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091484
00091339
DNA;RNA
SSCA;RT-PCR;SEQ
-
-
1
Judy Savige
0000091485
00091340
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091486
00091341
DNA
EMC;SSCA;SEQ
-
-
1
Judy Savige
0000091487
00091342
DNA
SEQ
-
-
1
Judy Savige
0000091488
00091343
DNA;RNA
SSCA;RT-PCR;SEQ
-
-
1
Judy Savige
0000091489
00091344
DNA;RNA
SSCA;RT-PCR;SEQ
-
-
1
Judy Savige
0000091490
00091345
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091491
00091346
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091492
00091347
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091493
00091348
RNA;DNA
RT-PCR;SEQ;DHPLC
-
-
1
Judy Savige
0000091494
00091349
DNA;RNA
SSCA;RT-PCR;SEQ
-
-
1
Judy Savige
0000091495
00091350
DNA
HD;SSCA;SEQ
-
-
1
Judy Savige
0000091496
00091351
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091497
00091352
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091498
00091353
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091499
00091354
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091500
00091355
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091501
00091356
DNA
HD;SSCA;SEQ
-
-
1
Judy Savige
0000091502
00091357
DNA
HD;SSCA;SEQ
-
-
1
Judy Savige
0000091503
00091358
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091504
00091359
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091505
00091360
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091506
00091361
DNA
HD;SSCA;SEQ
-
-
1
Judy Savige
0000091507
00091362
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091508
00091363
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091509
00091364
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091510
00091365
DNA
DHPLC; SEQ
-
-
1
Judy Savige
0000091511
00091366
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091512
00091367
DNA
SEQ
-
-
1
Judy Savige
0000091513
00091368
DNA;RNA
SSCA;RT-PCR;SEQ
-
-
1
Judy Savige
0000091514
00091369
DNA
HD;SSCA;SEQ
-
-
1
Judy Savige
0000091515
00091370
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091516
00091371
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091517
00091372
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091518
00091373
DNA
SEQ
-
-
2
Judy Savige
0000091519
00091374
DNA;RNA
SSCA;RT-PCR;SEQ
-
-
2
Judy Savige
0000091520
00091375
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091521
00091376
DNA
SSCA
-
-
1
Judy Savige
0000091522
00091377
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091523
00091378
DNA
SEQ
-
-
1
Judy Savige
0000091524
00091379
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091525
00091380
DNA
HD;SSCA;SEQ
-
-
1
Judy Savige
0000091526
00091381
DNA;RNA
SSCA;RT-PCR;SEQ
-
-
1
Judy Savige
0000091527
00091382
DNA
HD;SSCA;SEQ
-
-
1
Judy Savige
0000091528
00091383
DNA
EMC;SSCA;SEQ
-
-
1
Judy Savige
0000091529
00091384
DNA
SEQ
-
-
1
Judy Savige
0000091530
00091385
DNA
EMC;SSCA;SEQ
-
-
1
Judy Savige
0000091531
00091386
DNA
SEQ
-
-
1
Judy Savige
0000091532
00091387
DNA;RNA
SSCA;RT-PCR;SEQ
-
-
1
Judy Savige
0000091533
00091388
DNA;RNA
SSCA;RT-PCR;SEQ
-
-
1
Judy Savige
0000091534
00091389
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091535
00091390
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091536
00091391
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091537
00091392
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091538
00091393
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091539
00091394
DNA
HD;SSCA;SEQ
-
-
2
Judy Savige
0000091540
00091395
DNA
SSCA;SEQ
-
-
1
Judy Savige
0000091541
00091396
DNA
DHPLC; SEQ
-
-
1
Judy Savige
0000091542
00091397
DNA;RNA
SSCA;RT-PCR;SEQ
-
-
2
Judy Savige
0000091543
00091398
DNA
SSCA;SEQ
-
-
2
Judy Savige
0000091544
00091399
DNA
SSCA;SEQ
-
-
1
Judy Savige
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