Global Variome shared LOVD
DYNC2H1 (dynein, cytoplasmic 2, heavy chain 1)
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All screenings for gene DYNC2H1
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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
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.
123 entries on 2 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000016450
00016506
DNA
SEQ;SEQ-NG-I
blood
-
2
Hana Lango-Allen
0000058474
00058511
DNA
SEQ-NG
DYNC2H1
-
2
Karina Silveira
0000058484
00058521
DNA
SEQ-NG
-
-
2
Karina Silveira
0000058485
00058522
DNA
SEQ-NG
-
-
2
Karina Silveira
0000058486
00058523
DNA
SEQ-NG
-
-
2
Karina Silveira
0000132916
00132078
DNA
SEQ-NG-I
-
-
2
Karina Silveira
0000304508
00303382
DNA
SEQ;SEQ-NG
-
WES
2
Johan den Dunnen
0000304509
00303383
DNA
SEQ;SEQ-NG
-
WES
1
Johan den Dunnen
0000304510
00303384
DNA
SEQ;SEQ-NG
-
WES
1
Johan den Dunnen
0000304511
00303385
DNA
SEQ;SEQ-NG
-
WES
1
Johan den Dunnen
0000304512
00303386
DNA
SEQ;SEQ-NG
-
WES
2
Johan den Dunnen
0000308146
00307008
DNA
SEQ-NG-I
blood
gene panel
4
Francesca Piceci Sparascio
0000308149
00307010
DNA
SEQ-NG-I
blood
gene panel
4
Francesca Piceci Sparascio
0000332638
00331419
DNA
SEQ;SEQ-NG
-
WES
1
LOVD
0000332639
00331420
DNA
SEQ;SEQ-NG
-
WES
1
LOVD
0000332640
00331421
DNA
SEQ;SEQ-NG
-
WES
1
LOVD
0000332641
00331422
DNA
SEQ;SEQ-NG
-
WES
1
LOVD
0000360725
00359495
DNA
SEQ-NG-I
-
-
1
Karina Silveira
0000360726
00359496
DNA
SEQ-NG-I
-
-
1
Karina Silveira
0000360874
00359644
DNA
SEQ;SEQ-NG
-
WES
2
Johan den Dunnen
0000378256
00377051
DNA
SEQ-NG-I
-
-
2
Andreas Laner
0000378464
00377259
DNA
SEQ-NG-I;SEQ
blood
targeted resequencing using MIPs library prep; 108-gene panel
2
LOVD
0000389560
00388319
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389561
00388320
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389562
00388321
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389563
00388322
DNA
SEQ-NG
-
Exome sequencing
1
LOVD
0000389564
00388323
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389565
00388324
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389566
00388325
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389567
00388326
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389568
00388327
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389569
00388328
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389570
00388329
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389571
00388330
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389572
00388331
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389573
00388332
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389574
00388333
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389575
00388334
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389576
00388335
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389577
00388336
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389578
00388337
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389579
00388338
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389580
00388339
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389581
00388340
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389582
00388341
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389583
00388342
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389584
00388343
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389585
00388344
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389586
00388345
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389587
00388346
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389588
00388347
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389589
00388348
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389590
00388349
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389591
00388350
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389592
00388351
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389593
00388352
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389594
00388353
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389595
00388354
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389596
00388355
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389597
00388356
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389598
00388357
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389599
00388358
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389600
00388359
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389601
00388360
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389602
00388361
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389603
00388362
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389604
00388363
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389605
00388364
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389606
00388365
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389607
00388366
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389608
00388367
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389609
00388368
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389610
00388369
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389611
00388370
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389612
00388371
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389613
00388372
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389614
00388373
DNA
SEQ-NG
-
Exome sequencing
1
LOVD
0000389615
00388374
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389616
00388375
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389617
00388376
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389618
00388377
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389619
00388378
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389620
00388379
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389621
00388380
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389622
00388381
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389623
00388382
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389624
00388383
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389625
00388384
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389626
00388385
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389627
00388386
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389628
00388387
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389629
00388388
DNA
SEQ-NG
-
Exome sequencing
1
LOVD
0000389630
00388389
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389631
00388390
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389632
00388391
DNA
SEQ-NG
-
Exome sequencing
2
LOVD
0000389682
00388441
DNA
SEQ-NG
-
Exome sequencing
1
LOVD
0000389683
00388442
DNA
SEQ-NG
-
Exome sequencing
1
LOVD
0000389684
00388443
DNA
SEQ-NG
-
Exome sequencing
1
LOVD
0000389685
00388444
DNA
SEQ-NG
-
Exome sequencing
1
LOVD
0000389686
00388445
DNA
SEQ-NG
-
Exome sequencing
1
LOVD
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