Global Variome shared LOVD
F9 (coagulation factor IX)
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Curator:
Geoffrey Kemball-Cook
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All screenings for gene F9
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-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'
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3549 entries on 36 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
0000096770
00096367
DNA
SEQ
-
-
1
Johan den Dunnen
0000096771
00096368
DNA
SEQ
-
-
1
Johan den Dunnen
0000096772
00096369
DNA
SEQ
-
-
1
Johan den Dunnen
0000098135
00097732
DNA
CSCE;PCR;SEQ
-
-
2
Geoffrey Kemball-Cook
0000098279
00097876
DNA
CSCE;PCR;SEQ
-
-
4
Geoffrey Kemball-Cook
0000099722
00099319
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000100435
00100032
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000100436
00100033
DNA
SEQ
-
-
Not yet submitted
Johan den Dunnen
0000173646
00172763
DNA
SEQ
-
-
1
Lucy Raymond
0000184211
00183254
DNA
SEQ;SEQ-NG
-
-
1
Johan den Dunnen
0000184212
00183255
DNA
SEQ
-
-
1
Johan den Dunnen
0000184213
00183256
DNA
SEQ;SEQ-NG
-
-
4
Johan den Dunnen
0000184214
00183257
DNA
SEQ;SEQ-NG
-
-
2
Johan den Dunnen
0000184215
00183258
DNA
SEQ;SEQ-NG
-
WES
1
Johan den Dunnen
0000184216
00183259
DNA
SEQ
-
WES
1
Johan den Dunnen
0000236554
00235450
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236555
00235451
DNA
HD;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236556
00235452
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236557
00235453
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236558
00235454
?
?
-
-
2
Geoffrey Kemball-Cook
0000236559
00235455
DNA
CSCE;DHPLC;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236560
00235456
?
?
-
-
1
Geoffrey Kemball-Cook
0000236561
00235457
?
?
-
-
1
Geoffrey Kemball-Cook
0000236562
00235458
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236563
00235459
?
?
-
-
1
Geoffrey Kemball-Cook
0000236564
00235460
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236565
00235461
?
?
-
-
1
Geoffrey Kemball-Cook
0000236566
00235462
DNA
PCR;SEQ;Southern
-
-
1
Geoffrey Kemball-Cook
0000236567
00235463
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236568
00235464
DNA
DGGE;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236569
00235465
DNA
CSCE;DHPLC;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236570
00235466
?
?
-
-
1
Geoffrey Kemball-Cook
0000236571
00235467
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236572
00235468
?
?
-
-
1
Geoffrey Kemball-Cook
0000236573
00235469
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236574
00235470
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236575
00235471
DNA
PCR;SEQ;SSCA
-
-
1
Geoffrey Kemball-Cook
0000236576
00235472
DNA
DGGE;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236577
00235473
DNA
DGGE;PCR;SEQ;Southern
-
-
1
Geoffrey Kemball-Cook
0000236578
00235474
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236579
00235475
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236580
00235476
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236581
00235477
DNA
HD;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236582
00235478
DNA
HD;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236583
00235479
?
?
-
-
1
Geoffrey Kemball-Cook
0000236584
00235480
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236585
00235481
?
?
-
-
1
Geoffrey Kemball-Cook
0000236586
00235482
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236587
00235483
?
?
-
-
1
Geoffrey Kemball-Cook
0000236588
00235484
?
?
-
-
1
Geoffrey Kemball-Cook
0000236589
00235485
?
?
-
-
1
Geoffrey Kemball-Cook
0000236590
00235486
?
?
-
-
1
Geoffrey Kemball-Cook
0000236591
00235487
?
?
-
-
1
Geoffrey Kemball-Cook
0000236592
00235488
DNA
DGGE;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236593
00235489
?
?
-
-
1
Geoffrey Kemball-Cook
0000236594
00235490
?
?
-
-
1
Geoffrey Kemball-Cook
0000236595
00235491
?
?
-
-
1
Geoffrey Kemball-Cook
0000236596
00235492
?
?
-
-
1
Geoffrey Kemball-Cook
0000236597
00235493
?
?
-
-
1
Geoffrey Kemball-Cook
0000236598
00235494
?
?
-
-
1
Geoffrey Kemball-Cook
0000236599
00235495
?
?
-
-
1
Geoffrey Kemball-Cook
0000236600
00235496
?
?
-
-
1
Geoffrey Kemball-Cook
0000236601
00235497
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236602
00235498
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236603
00235499
?
?
-
-
1
Geoffrey Kemball-Cook
0000236604
00235500
?
?
-
-
1
Geoffrey Kemball-Cook
0000236605
00235501
?
?
-
-
1
Geoffrey Kemball-Cook
0000236606
00235502
DNA
HD;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236607
00235503
DNA
HD;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236608
00235504
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236609
00235505
DNA
CSCE;DHPLC;PCR;SEQ
-
-
2
Geoffrey Kemball-Cook
0000236610
00235506
DNA
PCRdig;Southern
-
-
1
Geoffrey Kemball-Cook
0000236611
00235507
DNA
HD;PCR;SEQ;SSCA
-
-
1
Geoffrey Kemball-Cook
0000236612
00235508
DNA
PCR;SEQ;Southern
-
-
1
Geoffrey Kemball-Cook
0000236613
00235509
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236614
00235510
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236615
00235511
?
?
-
-
1
Geoffrey Kemball-Cook
0000236616
00235512
DNA
PCR;SEQ;SSCA
-
-
1
Geoffrey Kemball-Cook
0000236617
00235513
?
?
-
-
1
Geoffrey Kemball-Cook
0000236618
00235514
DNA
PCR;SEQ;Southern
-
-
1
Geoffrey Kemball-Cook
0000236619
00235515
?
?
-
-
1
Geoffrey Kemball-Cook
0000236620
00235516
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236621
00235517
?
?
-
-
1
Geoffrey Kemball-Cook
0000236622
00235518
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236623
00235519
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236624
00235520
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236625
00235521
DNA
DGGE;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236626
00235522
?
?
-
-
2
Geoffrey Kemball-Cook
0000236627
00235523
?
?
-
-
1
Geoffrey Kemball-Cook
0000236628
00235524
DNA
PCR;SEQ;Southern
-
-
1
Geoffrey Kemball-Cook
0000236629
00235525
DNA
PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
0000236630
00235526
?
?
-
-
1
Geoffrey Kemball-Cook
0000236631
00235527
?
?
-
-
1
Geoffrey Kemball-Cook
0000236632
00235528
?
?
-
-
2
Geoffrey Kemball-Cook
0000236633
00235529
DNA
PCR;SEQ
-
-
2
Geoffrey Kemball-Cook
0000236634
00235530
?
?
-
-
1
Geoffrey Kemball-Cook
0000236635
00235531
DNA
PCR;SEQ;SSCA
-
-
1
Geoffrey Kemball-Cook
0000236636
00235532
DNA
PCR;SEQ;Southern
-
-
1
Geoffrey Kemball-Cook
0000236637
00235533
?
?
-
-
1
Geoffrey Kemball-Cook
0000236638
00235534
DNA
HD;PCR;SEQ
-
-
1
Geoffrey Kemball-Cook
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