Iran Variome Retinitis Pigmentosa Database
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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 = 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
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
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.
85 entries on 1 page. Showing entries 1 - 85.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Genes screened
Variants found
Owner
0000000001
00000001
DNA
SEQ-NG
CRX
1
Saeed Reza Ghaffari
0000000002
00000002
DNA
SEQ-NG
CEP290
2
variome.ir
0000000003
00000003
DNA
SEQ-NG
GUCA1A
1
variome.ir
0000000004
00000004
DNA
SEQ-NG
CRX
1
variome.ir
0000000005
00000005
DNA
SEQ-NG
OPA1
1
variome.ir
0000000006
00000006
DNA
SEQ-NG
BBS2
1
variome.ir
0000000007
00000007
DNA
SEQ-NG
PDE6B
Not yet submitted
variome.ir
0000000008
00000008
DNA
SEQ-NG
PDE6B
1
variome.ir
0000000009
00000009
DNA
SEQ-NG
PDE6B
Not yet submitted
variome.ir
0000000010
00000009
DNA
SEQ-NG
PDE6B
Not yet submitted
variome.ir
0000000011
00000010
DNA
SEQ-NG
RDH12
1
variome.ir
0000000012
00000011
DNA
SEQ-NG
PROM1
1
variome.ir
0000000013
00000012
DNA
SEQ-NG
DMPK
1
variome.ir
0000000014
00000013
DNA
SEQ-NG
ABCA4
1
variome.ir
0000000015
00000014
DNA
SEQ-NG
ABCA4
1
variome.ir
0000000016
00000015
DNA
SEQ-NG
ABCA4
1
variome.ir
0000000017
00000016
DNA
SEQ-NG
RP2
1
variome.ir
0000000018
00000017
DNA
SEQ-NG
EYS
2
Saeed Reza Ghaffari
0000000019
00000018
DNA
SEQ-NG
AIPL1
Not yet submitted
Saeed Reza Ghaffari
0000000021
00000020
DNA
SEQ-NG
ABCA4
0
variome.ir
0000000022
00000021
DNA
SEQ-NG
AIPL1
1
variome.ir
0000000023
00000022
DNA
SEQ-NG
ALMS1
1
variome.ir
0000000024
00000023
DNA
SEQ-NG
USH2A
1
variome.ir
0000000025
00000024
DNA
SEQ-NG
RPGRIP1
1
variome.ir
0000000026
00000025
DNA
SEQ-NG
GUCY2D
Not yet submitted
variome.ir
0000000027
00000026
DNA
SEQ-NG
CNGB1
1
variome.ir
0000000028
00000027
DNA
SEQ-NG
TULP1
Not yet submitted
variome.ir
0000000029
00000028
DNA
SEQ-NG
TULP1
Not yet submitted
variome.ir
0000000030
00000029
DNA
SEQ-NG
CRB1
1
variome.ir
0000000031
00000030
DNA
SEQ-NG
NR2E3
Not yet submitted
variome.ir
0000000032
00000031
DNA
SEQ-NG
BEST1
1
variome.ir
0000000033
00000032
DNA
SEQ-NG
IMPDH1
1
variome.ir
0000000034
00000033
DNA
SEQ-NG
CEP290
1
variome.ir
0000000035
00000034
DNA
SEQ-NG
SNRNP200
Not yet submitted
variome.ir
0000000036
00000035
DNA
SEQ-NG
PDE6A
Not yet submitted
variome.ir
0000000037
00000036
DNA
SEQ-NG
PCDH15
1
variome.ir
0000000038
00000037
DNA
SEQ-NG
RP2
Not yet submitted
variome.ir
0000000040
00000039
DNA
SEQ-NG
IMPG2
1
variome.ir
0000000041
00000041
DNA
SEQ-NG
RIMS1
1
variome.ir
0000000042
00000042
DNA
SEQ-NG
PDE6A
Not yet submitted
variome.ir
0000000043
00000043
DNA
SEQ-NG
PDE6A
Not yet submitted
variome.ir
0000000044
00000044
DNA
SEQ-NG
PANK2
1
variome.ir
0000000045
00000045
DNA
SEQ-NG
MYO7A
1
variome.ir
0000000046
00000046
DNA
SEQ-NG
PCARE
Not yet submitted
variome.ir
0000000047
00000047
DNA
SEQ-NG
RDH12
1
variome.ir
0000000048
00000048
DNA
SEQ-NG
IMPG2
1
variome.ir
0000000049
00000049
DNA
SEQ-NG
MYO7A
1
variome.ir
0000000050
00000050
DNA
SEQ-NG
NR2E3
Not yet submitted
variome.ir
0000000051
00000051
DNA
SEQ-NG
PCARE
Not yet submitted
variome.ir
0000000052
00000052
DNA
SEQ-NG
RLBP1
1
variome.ir
0000000054
00000054
DNA
SEQ-NG
CNGB1
1
variome.ir
0000000055
00000055
DNA
SEQ-NG
CDH23
1
variome.ir
0000000056
00000056
DNA
SEQ-NG
CERKL
1
variome.ir
0000000057
00000057
DNA
SEQ-NG
PRPF8
Not yet submitted
variome.ir
0000000058
00000058
DNA
SEQ-NG
CNGB1
1
variome.ir
0000000059
00000059
DNA
SEQ-NG
PROM1
1
variome.ir
0000000060
00000060
DNA
SEQ-NG
AIPL1
1
variome.ir
0000000061
00000061
DNA
SEQ-NG
EYS
1
variome.ir
0000000062
00000062
DNA
SEQ-NG
LRAT
Not yet submitted
variome.ir
0000000063
00000063
DNA
SEQ-NG
LRAT
Not yet submitted
variome.ir
0000000064
00000064
DNA
SEQ-NG
CERKL
1
variome.ir
0000000065
00000065
DNA
SEQ-NG
BBS2
1
variome.ir
0000000066
00000066
DNA
SEQ-NG
PDE6C
Not yet submitted
variome.ir
0000000067
00000067
DNA
SEQ-NG
PRPH2
1
variome.ir
0000000068
00000068
DNA
SEQ-NG
USH2A
1
variome.ir
0000000069
00000069
DNA
SEQ-NG
IMPG2
1
variome.ir
0000000070
00000070
DNA
SEQ-NG
RLBP1
1
variome.ir
0000000071
00000071
DNA
SEQ-NG
ARL6
1
variome.ir
0000000072
00000072
DNA
SEQ-NG
CNGA3
1
variome.ir
0000000073
00000073
DNA
SEQ-NG
CFAP418
Not yet submitted
variome.ir
0000000074
00000074
DNA
SEQ-NG
GUCY2D
Not yet submitted
variome.ir
0000000075
00000075
DNA
SEQ-NG
RDH12
1
variome.ir
0000000076
00000076
DNA
SEQ-NG
IMPG2
1
variome.ir
0000000077
00000077
DNA
SEQ-NG
PROM1
1
variome.ir
0000000078
00000078
DNA
SEQ-NG
BBS12
Not yet submitted
variome.ir
0000000079
00000078
DNA
SEQ-NG
BBS12
Not yet submitted
variome.ir
0000000080
00000079
DNA
SEQ-NG
PROM1
1
variome.ir
0000000081
00000080
DNA
SEQ-NG
RS1
1
variome.ir
0000000082
00000081
DNA
SEQ-NG
PRPF3
1
variome.ir
0000000084
00000083
DNA
SEQ-NG
EYS
1
variome.ir
0000000085
00000084
DNA
SEQ-NG
IMPDH1
1
variome.ir
0000000088
00000087
DNA
SEQ-NG
CRB1
1
variome.ir
0000000089
00000088
DNA
SEQ-NG
GUCY2D
Not yet submitted
variome.ir
0000000090
00000089
DNA
SEQ-NG
RP1
1
variome.ir
0000000091
00000090
DNA
SEQ-NG
BBS12
Not yet submitted
variome.ir
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