NDDVD - Neurodegenerative Diseases Variation Database
SOD1 (superoxide dismutase 1, soluble)
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Curator:
Y Yang
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All screenings for gene SOD1
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 = RNA (cDNA).
All options:
DNA
RNA = RNA (cDNA)
Protein
? = unknown
Technique
: Technique(s) used to identify the sequence variant.
All options:
? = Unknown
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)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CSCE = Conformation Sensitive Capillary Electrophoresis
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG = Next-Generation Sequencing
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SEQ = SEQuencing
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting
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.
364 entries on 4 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000000391
00000391
?
?
1
Y Yang
0000000392
00000392
?
?
1
Y Yang
0000000393
00000393
?
?
1
Y Yang
0000000394
00000394
?
?
1
Y Yang
0000000395
00000395
?
?
1
Y Yang
0000000396
00000396
?
?
1
Y Yang
0000000397
00000397
?
?
1
Y Yang
0000000398
00000398
?
?
1
Y Yang
0000000399
00000399
?
?
1
Y Yang
0000000400
00000400
?
?
1
Y Yang
0000000401
00000401
?
?
1
Y Yang
0000000402
00000402
?
?
1
Y Yang
0000000403
00000403
?
?
1
Y Yang
0000000404
00000404
?
?
1
Y Yang
0000000405
00000405
?
?
1
Y Yang
0000000406
00000406
?
?
1
Y Yang
0000000407
00000407
?
?
1
Y Yang
0000000409
00000409
?
?
1
Y Yang
0000000410
00000410
?
?
1
Y Yang
0000000411
00000411
?
?
1
Y Yang
0000000412
00000412
?
?
1
Y Yang
0000000413
00000413
?
?
1
Y Yang
0000000414
00000414
?
?
1
Y Yang
0000000415
00000415
?
?
1
Y Yang
0000000416
00000416
?
?
1
Y Yang
0000000418
00000418
?
?
1
Y Yang
0000000419
00000419
?
?
1
Y Yang
0000000420
00000420
?
?
1
Y Yang
0000000421
00000421
?
?
1
Y Yang
0000000422
00000422
?
?
1
Y Yang
0000000423
00000423
?
?
1
Y Yang
0000000424
00000424
?
?
1
Y Yang
0000000425
00000425
?
?
1
Y Yang
0000000426
00000426
?
?
1
Y Yang
0000000427
00000427
?
?
1
Y Yang
0000000428
00000428
?
?
1
Y Yang
0000000429
00000429
?
?
1
Y Yang
0000000430
00000430
?
?
1
Y Yang
0000000431
00000431
?
?
1
Y Yang
0000000432
00000432
?
?
1
Y Yang
0000000433
00000433
?
?
1
Y Yang
0000000434
00000434
?
?
1
Y Yang
0000000435
00000435
?
?
1
Y Yang
0000000436
00000436
?
?
1
Y Yang
0000000437
00000437
?
?
1
Y Yang
0000000438
00000438
?
?
1
Y Yang
0000000439
00000439
?
?
1
Y Yang
0000000440
00000440
?
?
1
Y Yang
0000000442
00000442
?
?
1
Y Yang
0000000443
00000443
?
?
1
Y Yang
0000000444
00000444
?
?
1
Y Yang
0000000445
00000445
?
?
1
Y Yang
0000000446
00000446
?
?
1
Y Yang
0000000447
00000447
?
?
1
Y Yang
0000000448
00000448
?
?
1
Y Yang
0000000449
00000449
?
?
1
Y Yang
0000000450
00000450
?
?
1
Y Yang
0000000451
00000451
?
?
1
Y Yang
0000000452
00000452
?
?
1
Y Yang
0000000453
00000453
?
?
1
Y Yang
0000000454
00000454
?
?
1
Y Yang
0000000455
00000455
?
?
1
Y Yang
0000000456
00000456
?
?
1
Y Yang
0000000457
00000457
?
?
1
Y Yang
0000000458
00000458
?
?
1
Y Yang
0000000459
00000459
?
?
1
Y Yang
0000000460
00000460
?
?
1
Y Yang
0000000461
00000461
?
?
1
Y Yang
0000000462
00000462
?
?
1
Y Yang
0000000463
00000463
?
?
1
Y Yang
0000000464
00000464
?
?
1
Y Yang
0000000465
00000465
?
?
1
Y Yang
0000000466
00000466
?
?
1
Y Yang
0000000467
00000467
?
?
1
Y Yang
0000000468
00000468
?
?
1
Y Yang
0000000469
00000469
?
?
1
Y Yang
0000000470
00000470
?
?
1
Y Yang
0000000471
00000471
?
?
1
Y Yang
0000000472
00000472
?
?
1
Y Yang
0000000473
00000473
?
?
1
Y Yang
0000000474
00000474
?
?
1
Y Yang
0000000475
00000475
?
?
1
Y Yang
0000000476
00000476
?
?
1
Y Yang
0000000477
00000477
?
?
1
Y Yang
0000000478
00000478
?
?
1
Y Yang
0000000479
00000479
?
?
1
Y Yang
0000000480
00000480
?
?
1
Y Yang
0000000481
00000481
?
?
1
Y Yang
0000000482
00000482
?
?
1
Y Yang
0000000483
00000483
?
?
1
Y Yang
0000000484
00000484
?
?
1
Y Yang
0000000485
00000485
?
?
1
Y Yang
0000000486
00000486
?
?
1
Y Yang
0000000487
00000487
?
?
1
Y Yang
0000000488
00000488
?
?
1
Y Yang
0000000489
00000489
?
?
1
Y Yang
0000000490
00000490
?
?
1
Y Yang
0000000492
00000492
?
?
1
Y Yang
0000000493
00000493
?
?
1
Y Yang
0000000494
00000494
?
?
1
Y Yang
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