Global Variome shared LOVD
RPE65 (retinal pigment epithelium-specific protein ...)
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Global Variome, with Curator vacancy
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All screenings for gene RPE65
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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
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'
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.
1045 entries on 11 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
0000024944
00024941
DNA
SEQ
blood
-
2
Kannabiran C
0000033176
00033108
DNA
SEQ;SEQ-NG-S
-
-
3
Kornelia Neveling
0000033197
00033129
DNA
SEQ;SEQ-NG-S
-
-
3
Kornelia Neveling
0000033427
00033359
DNA
SEQ-NG-I
-
-
1
Leen Abu Safieh
0000033432
00033364
DNA
SEQ
-
-
1
Leen Abu Safieh
0000033748
00033680
DNA
SEQ
-
-
2
Chitra Kannabiran
0000033788
00033720
DNA
SEQ-NG-I
-
-
2
Soumittra Nagasamy
0000033789
00033721
DNA
SEQ-NG-I
-
-
1
Soumittra Nagasamy
0000052359
00052411
DNA
PCR;SEQ;SEQ-NG-I
-
-
3
Muhammad Ajmal
0000052360
00052412
DNA
PCR;SEQ;SEQ-NG-I
-
-
1
Muhammad Ajmal
0000052361
00052413
DNA
PCR;SEQ
-
-
2
Muhammad Ajmal
0000052362
00052414
DNA
?
-
-
1
Muhammad Ajmal
0000052363
00052415
DNA
?
-
-
2
Muhammad Ajmal
0000052364
00052416
DNA
?
-
-
1
Muhammad Ajmal
0000052365
00052417
DNA
?
-
-
1
Muhammad Ajmal
0000052366
00052418
DNA
?
-
-
2
Muhammad Ajmal
0000052367
00052419
DNA
?
-
-
1
Muhammad Ajmal
0000052368
00052420
DNA
?
-
-
2
Muhammad Ajmal
0000052369
00052421
DNA
?
-
-
2
Muhammad Ajmal
0000052370
00052422
DNA
?
-
-
1
Muhammad Ajmal
0000052371
00052423
DNA
?
-
-
1
Muhammad Ajmal
0000052372
00052424
DNA
?
-
-
2
Muhammad Ajmal
0000052373
00052425
DNA
?
-
-
2
Muhammad Ajmal
0000052374
00052426
DNA
?
-
-
1
Muhammad Ajmal
0000052375
00052427
DNA
?
-
-
2
Muhammad Ajmal
0000052376
00052428
DNA
?
-
-
2
Muhammad Ajmal
0000052377
00052429
DNA
?
-
-
1
Muhammad Ajmal
0000052378
00052430
DNA
?
-
-
1
Muhammad Ajmal
0000052379
00052431
DNA
?
-
-
1
Muhammad Ajmal
0000052380
00052432
DNA
?
-
-
2
Muhammad Ajmal
0000052381
00052433
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052382
00052434
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052383
00052435
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052384
00052436
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052385
00052437
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052386
00052438
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052387
00052439
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052388
00052440
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052389
00052441
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052390
00052442
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052391
00052443
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052392
00052444
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052393
00052445
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052394
00052446
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052395
00052447
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052396
00052448
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052397
00052449
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052398
00052450
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052399
00052451
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052400
00052452
DNA
?
-
-
1
Muhammad Ajmal
0000052401
00052453
DNA
?
-
-
2
Muhammad Ajmal
0000052402
00052454
DNA
?
-
-
1
Muhammad Ajmal
0000052403
00052455
DNA
?
-
-
2
Muhammad Ajmal
0000052404
00052456
DNA
?
-
-
1
Muhammad Ajmal
0000052405
00052457
DNA
?
-
-
1
Muhammad Ajmal
0000052406
00052458
DNA
?
-
-
1
Muhammad Ajmal
0000052407
00052459
DNA
?
-
-
1
Muhammad Ajmal
0000052408
00052460
DNA
?
-
-
2
Muhammad Ajmal
0000052409
00052461
DNA
?
-
-
1
Muhammad Ajmal
0000052410
00052462
DNA
?
-
-
2
Muhammad Ajmal
0000052411
00052463
DNA
?
-
-
2
Muhammad Ajmal
0000052412
00052464
DNA
?
-
-
1
Muhammad Ajmal
0000052413
00052465
DNA
?
-
-
2
Muhammad Ajmal
0000052414
00052466
DNA
?
-
-
2
Muhammad Ajmal
0000052415
00052467
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052416
00052468
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052417
00052469
DNA
PCR;SEQ
-
-
2
Muhammad Ajmal
0000052418
00052470
DNA
PCR;SEQ
-
-
2
Muhammad Ajmal
0000052419
00052471
DNA
arraySEQ;PCR;SEQ
-
-
1
Muhammad Ajmal
0000052420
00052472
DNA
arraySEQ;PCR;SEQ
-
-
1
Muhammad Ajmal
0000052421
00052473
DNA
arraySEQ;PCR;SEQ
-
-
2
Muhammad Ajmal
0000052422
00052474
DNA
arraySEQ;PCR;SEQ
-
-
1
Muhammad Ajmal
0000052423
00052475
DNA
arraySEQ;PCR;SEQ
-
-
2
Muhammad Ajmal
0000052424
00052476
DNA
arraySEQ;PCR;SEQ
-
-
1
Muhammad Ajmal
0000052425
00052477
DNA
arraySEQ;PCR;SEQ
-
-
2
Muhammad Ajmal
0000052426
00052478
DNA
arraySEQ;PCR;SEQ
-
-
2
Muhammad Ajmal
0000052427
00052479
DNA
arraySEQ;PCR;SEQ
-
-
2
Muhammad Ajmal
0000052428
00052480
DNA
SSCA;PCR;SEQ
-
-
2
Muhammad Ajmal
0000052429
00052481
DNA
SSCA;PCR;SEQ
-
-
2
Muhammad Ajmal
0000052430
00052482
DNA
SSCA;PCR;SEQ
-
-
2
Muhammad Ajmal
0000052431
00052483
DNA
SSCA;PCR;SEQ
-
-
1
Muhammad Ajmal
0000052432
00052484
DNA
SSCA;PCR;SEQ
-
-
1
Muhammad Ajmal
0000052433
00052485
DNA
SSCA;PCR;SEQ
-
-
1
Muhammad Ajmal
0000052434
00052486
DNA
SSCA;PCR;SEQ
-
-
2
Muhammad Ajmal
0000052435
00052487
DNA
SSCA;PCR;SEQ
-
-
1
Muhammad Ajmal
0000052436
00052488
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052437
00052489
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052438
00052490
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052439
00052491
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052440
00052492
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052441
00052493
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052442
00052494
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052443
00052495
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052444
00052496
DNA
arraySEQ;PCR;SEQ
-
-
2
Muhammad Ajmal
0000052445
00052497
DNA
PCR;SEQ
-
-
2
Muhammad Ajmal
0000052446
00052498
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052447
00052499
DNA
PCR;SEQ
-
-
2
Muhammad Ajmal
0000052448
00052500
DNA
PCR;SEQ
-
-
1
Muhammad Ajmal
0000052449
00052501
DNA
SSCA;PCR;SEQ
-
-
2
Muhammad Ajmal
0000052450
00052502
DNA
SSCA;PCR;SEQ
-
-
1
Muhammad Ajmal
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