Global Variome shared LOVD
BTK (Bruton tyrosine kinase)
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Curator:
Mauno Vihinen
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All screenings for gene BTK
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
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.
2205 entries on 23 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000053098
00053151
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053099
00053152
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053100
00053153
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053101
00053154
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053102
00053155
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053103
00053156
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053104
00053157
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053105
00053158
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053106
00053159
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053107
00053160
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053108
00053161
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053113
00053166
DNA
?
-
-
1
C. I. Edvard Smith
0000053116
00053169
DNA
?
-
-
1
C. I. Edvard Smith
0000053119
00053172
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053120
00053173
DNA
?
-
-
1
Dr. M. C. Garcia Rodriguez
0000053121
00053174
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053122
00053175
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053123
00053176
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053124
00053177
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053125
00053178
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053126
00053179
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053127
00053180
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053128
00053181
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053129
00053182
DNA
?
-
-
1
Dr. Tracy Lester
0000053130
00053183
DNA
?
-
-
1
Dr. Tracy Lester
0000053131
00053184
DNA
?
-
-
1
Patrizia Melia
0000053132
00053185
DNA
?
-
-
1
J.G. Noordzij
0000053133
00053186
DNA
?
-
-
1
J.G. Noordzij
0000053134
00053187
DNA
?
-
-
1
Dr. Tracy Lester
0000053135
00053188
DNA
?
-
-
1
Dr. Tracy Lester
0000053136
00053189
DNA
?
-
-
1
J.G. Noordzij
0000053140
00053193
DNA
?
-
-
1
C. I. Edvard Smith
0000053141
00053194
DNA
?
-
-
1
C. I. Edvard Smith
0000053142
00053195
DNA
?
-
-
1
C. I. Edvard Smith
0000053145
00053198
DNA
?
-
-
1
C. I. Edvard Smith
0000053146
00053199
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053147
00053200
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053148
00053201
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053149
00053202
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053150
00053203
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053151
00053204
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053152
00053205
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053153
00053206
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053154
00053207
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053155
00053208
DNA
?
-
-
1
Dr. Michael Weiss
0000053156
00053209
DNA
?
-
-
1
Dr. Michael Weiss
0000053157
00053210
DNA
?
-
-
1
Dr. Michael Weiss
0000053158
00053211
DNA
?
-
-
1
Dr. Michael Weiss
0000053159
00053212
DNA
?
-
-
1
Dr. Michael Weiss
0000053160
00053213
DNA
?
-
-
1
Dr. Michael Weiss
0000053161
00053214
DNA
?
-
-
1
Dr. Michael Weiss
0000053162
00053215
DNA
?
-
-
1
Dr. Michael Weiss
0000053163
00053216
DNA
?
-
-
1
Dr. Michael Weiss
0000053164
00053217
DNA
?
-
-
1
Dr. Michael Weiss
0000053165
00053218
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053166
00053219
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053167
00053220
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053168
00053221
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053169
00053222
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053170
00053223
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053171
00053224
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053172
00053225
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053173
00053226
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053174
00053227
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053175
00053228
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053176
00053229
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053177
00053230
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053178
00053231
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053179
00053232
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053180
00053233
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053181
00053234
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053182
00053235
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053183
00053236
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053184
00053237
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053185
00053238
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053186
00053239
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053187
00053240
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053188
00053241
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053189
00053242
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053190
00053243
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053191
00053244
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053192
00053245
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053193
00053246
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053194
00053247
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053195
00053248
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053196
00053249
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053197
00053250
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053198
00053251
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053199
00053252
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053200
00053253
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053201
00053254
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053202
00053255
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053203
00053256
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053204
00053257
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053205
00053258
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053206
00053259
DNA
?
-
-
1
Gerard C.P. Schaafsma
0000053207
00053260
DNA
?
-
-
1
Dr. M. C. Garcia Rodriguez
0000053208
00053261
DNA
?
-
-
1
Dr. M. C. Garcia Rodriguez
0000053209
00053262
DNA
?
-
-
1
Dr. M. C. Garcia Rodriguez
0000053210
00053263
DNA
?
-
-
1
Dr. M. C. Garcia Rodriguez
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