All individuals with variants in gene CEP290

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.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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.

939 entries on 10 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8	9	10		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000023	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	BMD/DMD	-	1	1	Global Variome, with Curator vacancy
00000087	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00028919	1-58 Pat8	PubMed: Kroes 2016	-	-	-	-	Europe-N	-	-	-	-	JBTS1	-	1	1	Sanne Savelberg
00028923	2-45 Pat12	PubMed: Kroes 2016	-	-	-	-	Europe-N	-	-	-	-	JBTS1	-	2	1	Sanne Savelberg
00033079	-	-	-	M	-	Netherlands	-	-	-	-	-	LCA	-	2	1	Johan den Dunnen
00033080	-	-	-	-	-	France	-	-	-	-	-	LCA	-	2	1	Johan den Dunnen
00033081	-	-	-	M	-	Pakistan	-	-	-	-	-	JBTS1	-	2	1	Johan den Dunnen
00033082	-	-	-	-	-	-	-	-	-	-	-	LCA	-	1	1	Johan den Dunnen
00033083	-	-	-	-	-	-	-	-	-	-	-	LCA	-	1	83	Johan den Dunnen
00033084	-	-	-	-	-	-	-	-	-	-	-	LCA	-	1	1	Johan den Dunnen
00033085	-	-	-	-	-	-	-	-	-	-	-	LCA	-	1	1	Johan den Dunnen
00033086	-	-	-	-	-	-	-	-	-	-	-	JBTS1	-	1	2	Johan den Dunnen
00033134	-	-	-	M	-	-	-	-	-	-	-	retinal disease	retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; mild intellectual disability	2	1	Kornelia Neveling
00033143	-	-	-	F	-	-	-	-	-	-	-	retinal disease	diabetes mellitus, hypertension, hearing loss	2	1	Kornelia Neveling
00033191	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	2	Johan den Dunnen
00033192	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	2	Johan den Dunnen
00033193	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033194	Fam5Pat407	PubMed: Baala 2007	-	-	-	France	-	-	-	-	-	MKS	see paper; ...	2	1	Johan den Dunnen
00033195	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033196	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	2	Johan den Dunnen
00033197	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033198	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033199	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033200	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033201	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033202	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033203	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033204	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033205	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033206	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033208	Fam4Pat304	PubMed: Baala 2007	family, 2 affected	-	-	France;Tunisia	-	-	-	-	-	MKS	see paper; ...	2	2	Johan den Dunnen
00033209	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033210	23169490-FamMKS_F11	PubMed: Shaheen 2013	-	-	-	Saudi Arabia	-	-	-	-	-	MKS	see paper; ...	1	2	Johan den Dunnen
00033211	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033212	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033213	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033214	Fam10Pat03/485/Pat05/158	PubMed: Baala 2007	family, 2 affected sibs	-	-	France	-	-	-	-	-	MKS	see paper; ...	1	1	Johan den Dunnen
00033215	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033216	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	2	Johan den Dunnen
00033217	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033218	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033219	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033220	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033221	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033222	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033223	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033224	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033225	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033226	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033227	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033228	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033229	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	2	Johan den Dunnen
00033230	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033231	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033232	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033233	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033234	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033235	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033236	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033237	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033238	Fam7Pat387	PubMed: Baala 2007	-	-	-	France	-	-	-	-	-	MKS	see paper; ...	2	1	Johan den Dunnen
00033239	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033240	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	82	Johan den Dunnen
00033241	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033242	Fam8Pat712	PubMed: Baala 2007	-	-	-	Palestine	-	-	-	-	-	MKS	see paper; ...	2	1	Johan den Dunnen
00033243	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033244	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033245	Fam2Pat312	PubMed: Baala 2007	-	-	-	Tunisia	-	-	-	-	-	MKS	see paper; ...	1	1	Johan den Dunnen
00033246	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	3	Johan den Dunnen
00033247	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033248	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033249	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	2	Johan den Dunnen
00033250	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	3	Johan den Dunnen
00033251	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033252	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033254	Fam6Pat650	PubMed: Baala 2007	-	-	-	-	-	-	-	-	-	MKS	see paper; ...	2	1	Johan den Dunnen
00033255	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	3	Johan den Dunnen
00033256	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	2	Johan den Dunnen
00033257	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033258	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033259	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	3	Johan den Dunnen
00033260	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033261	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033262	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033264	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	2	Johan den Dunnen
00033265	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033266	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033267	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	6	Johan den Dunnen
00033268	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033269	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033270	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033271	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033272	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033273	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	16	Johan den Dunnen
00033274	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033275	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033276	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033277	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033278	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	1	Johan den Dunnen
00033279	-	-	-	-	-	-	-	-	-	-	-	?	patient	1	5	Johan den Dunnen

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Global Variome shared LOVD

CEP290 (centrosomal protein 290kDa)