Disease #05596 (XP (xeroderma pigmentosum (XP)))

Official abbreviation	XP
Name	xeroderma pigmentosum (XP)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	101
Phenotype entries for this disease	101
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2019-04-20 16:55:51 +02:00 (CEST)
Date last edited	N/A

Individuals

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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.

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Operator	Column type	Example	Matches
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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
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>=	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
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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'

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101 entries on 2 pages. Showing entries 1 - 100.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00230992	-	-	-	F	no	Brazil	-	-	-	-	-	XP	The patient, a 22-year-old female, was first observed to be sun sensitive when she was a newborn. She had diffuse erythema and desquamation after short sun exposure, and it recurred after varying degrees of sun exposure. She presented mild erythema and desquamation on the face, mainly on the forehead, malar region and nasal dorsum. Additionally, she had tiny vesicles on her lower lip. In addition, there were multiple solar lentigines on sun-exposed areas of the body, including the face, neck, shoulders, and upper back. She also reported having photophobia with redness and watering of the eyes during sun exposure.	ERCC5	ERCC5	2	1	Tiago de Souza
00230993	-	-	-	M	no	Brazil	-	-	-	-	-	XP	The patient, a 17-year-old male, presented with slight erythema and desquamation on the face, especially on the nasal dorsum. There were also multiple solar lentigines on his central face and a few lentigines on the upper trunk. He first exhibited sun sensitivity as a newborn with the same clinical manifestations as his sister and also reported episodes of photophobia. Neither sibling had a history of skin cancer or skin cancer precursors. They never had lesions surgically removed.	ERCC5	ERCC5	2	1	Tiago de Souza
00306118	PatXP202DC	Imoto 2007, J Invest Dermatol 127 Supp. Abs547	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Japan	-	37y	-	-	-	XP	progressive neurodegeneration, dementia, severe generalized brain atrophy (onset 15y); deceased 37y	ERCC1	ERCC1	2	1	Johan den Dunnen
00306174	PatXP126LO	PubMed: Sijbers 1996, PubMed: Norris 1988	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	XP	-	ERCC4	ERCC4	4	1	Johan den Dunnen
00306175	PatXP42RO	PubMed: Sijbers 1998	2-generation family, 2 affected sibs, unaffected heterozygous carrier parents	M	-	Netherlands	white	-	-	-	-	XP	see paper; ..., mild ocular photophobia from childhood, acute skin reactions upon sunlight exposure; >27y-basal and squamous cell carcinomas; >45y-progressive neurologic symptoms, intellectual decline, mild chorea and ataxia, marked cerebral and cerebelar atrophy	ERCC4	ERCC4	1	2	Johan den Dunnen
00306177	PatXP26BR	PubMed: Ahmad 2010	-	-	-	-	-	-	-	-	-	XP	-	ERCC4	ERCC4	1	1	Johan den Dunnen
00306178	PatXP32BR	PubMed: Ahmad 2010	-	-	-	-	-	-	-	-	-	XP	-	ERCC4	ERCC4	2	1	Johan den Dunnen
00306179	PatAS871	PubMed: Ahmad 2010	-	-	-	-	-	-	-	-	-	XP	severe XP with neurodegeneratio	ERCC4	ERCC4	2	1	Johan den Dunnen
00306180	PatXP62RO	PubMed: Ahmad 2010	sib of XP42RO	-	-	-	-	-	-	-	-	XP	mild XP, late onset neurodegeneration	ERCC4	ERCC4	1	1	Johan den Dunnen
00306181	PatXP24KY	PubMed: Matsumura 1998	-	F	-	Japan	-	-	-	-	-	XP	see paper; ...	ERCC4	ERCC4	1	1	Johan den Dunnen
00306182	PatXP24BR	PubMed: Berneburg 2000,PubMed: Ahmad 2010	-	-	-	-	-	-	-	-	-	XP	severe XP, neurodegeneration, no skin cancer	ERCC4	ERCC4	2	1	Johan den Dunnen
00436190	XP111BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Bangladesh	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 3-5; unscheduled DNA synthesis 3	XPA	XPA	1	1	Johan den Dunnen
00436191	XP54PV	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 3; 8y-first cancer, squamous cell carcinoma; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 4-5;	XPA	XPA	1	1	Johan den Dunnen
00436192	XP57BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Bangladesh	-	-	-	-	XP	sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 4; unscheduled DNA synthesis 1	XPA	XPA	1	1	Johan den Dunnen
00436193	XP80BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Somalia	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4; unscheduled DNA synthesis 2	XPA	XPA	1	1	Johan den Dunnen
00436194	XP81BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Somalia	-	-	-	-	XP	sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 5	XPA	XPA	1	1	Johan den Dunnen
00436195	XP15BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 0	XPA	XPA	1	1	Johan den Dunnen
00436196	XP114BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 5; unscheduled DNA synthesis 8	XPA	XPA	1	1	Johan den Dunnen
00436197	XP20BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 8; unscheduled DNA synthesis 8	XPA	XPA	1	1	Johan den Dunnen
00436198	XP9BI	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0;	XPA	XPA	1	1	Johan den Dunnen
00436199	XP103BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 20	XPA	XPA	1	1	Johan den Dunnen
00436200	XP53BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 3	XPA	XPA	1	1	Johan den Dunnen
00436201	XP116BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	India	-	-	-	-	XP	sunburn severity score 1; 30y-first cancer, basal cell carcinoma; no malignant melanoma; 7 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 12	XPA	XPA	1	1	Johan den Dunnen
00436202	XP2PR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0;	XPA	XPA	1	1	Johan den Dunnen
00436203	XP89BR-S	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0;	XPA	XPA	1	1	Johan den Dunnen
00436204	XP1PR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0;	XPA	XPA	1	1	Johan den Dunnen
00436205	XP88BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 15	XPA	XPA	1	1	Johan den Dunnen
00436206	XP89BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 5	XPA	XPA	1	1	Johan den Dunnen
00436207	XP1CB	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	India	-	-	-	-	XP	sunburn severity score 0; 46y-first cancer, melanoma in situ; 10 malignant melanomas; 35 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 13	XPA	XPA	1	1	Johan den Dunnen
00436208	XP84BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 1; unscheduled DNA synthesis 14	ERCC3	ERCC3	1	1	Johan den Dunnen
00436209	XP1SA	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	mixed	55y	-	-	-	XP	sunburn severity score 2; 22y-first cancer, malignant melanoma; 1 malignant melanoma; 7 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 4; unscheduled DNA synthesis 21	ERCC3	ERCC3	2	1	Johan den Dunnen
00436210	XP117BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; 4y-first cancer, basal cell carcinoma; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 8	XPC	XPC	2	1	Johan den Dunnen
00436211	XP93BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 1	XPC	XPC	1	1	Johan den Dunnen
00436212	XP66TU	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; 3y-first cancer, squamous cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 20	XPC	XPC	2	1	Johan den Dunnen
00436213	XP112BR-S	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Bangladesh	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0;	XPC	XPC	2	1	Johan den Dunnen
00436214	XP102BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 14	XPC	XPC	2	1	Johan den Dunnen
00436215	XP112BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Bangladesh	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 9	XPC	XPC	2	1	Johan den Dunnen
00436216	XP4LE	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 0; 6y-first cancer, basal cell carcinoma; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 5	XPC	XPC	1	1	Johan den Dunnen
00436217	XP73BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 1; unscheduled DNA synthesis 7	XPC	XPC	1	1	Johan den Dunnen
00436218	XP94BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Sri Lanka	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 11	XPC	XPC	1	1	Johan den Dunnen
00436219	XP82BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; 6y-first cancer, squamous cell carcinoma; no malignant melanoma; 3 nonmelanoma skin cancers; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 15	XPC	XPC	2	1	Johan den Dunnen
00436220	XP76BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 10	XPC	XPC	1	1	Johan den Dunnen
00436221	XP78BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 28	XPC	XPC	1	1	Johan den Dunnen
00436222	XP3LE	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 0; 11y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 15	XPC	XPC	1	1	Johan den Dunnen
00436223	XP77BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 0; 8y-first cancer, basal cell carcinoma; 1 malignant melanoma; no nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 10	XPC	XPC	1	1	Johan den Dunnen
00436224	XP58BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 0;	XPC	XPC	1	1	Johan den Dunnen
00436225	XP83BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 21	XPC	XPC	1	1	Johan den Dunnen
00436226	XP62BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 6	XPC	XPC	1	1	Johan den Dunnen
00436227	XP39BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Bangladesh	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 12	XPC	XPC	1	1	Johan den Dunnen
00436228	XP35BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Bangladesh	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 6; neuro severity score 0; unscheduled DNA synthesis 13	XPC	XPC	1	1	Johan den Dunnen
00436229	XP28BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Bangladesh	-	-	-	-	XP	sunburn severity score 0; 8y-first cancer, basal cell carcinoma; no malignant melanoma; 8 nonmelanoma skin cancers; ocular severity score 9; neuro severity score 0; unscheduled DNA synthesis 12	XPC	XPC	1	1	Johan den Dunnen
00436230	XP51BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Middle East	-	-	-	-	XP	sunburn severity score 0; 12y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 1	XPC	XPC	1	1	Johan den Dunnen
00436231	XP6B1	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 0; 22y-first cancer, basal cell carcinoma; no malignant melanoma; 5 nonmelanoma skin cancers; ocular severity score 8; neuro severity score 0; unscheduled DNA synthesis 13	XPC	XPC	1	1	Johan den Dunnen
00436232	XP1SH	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; 3y-first cancer, basal cell carcinoma; no malignant melanoma; 5 nonmelanoma skin cancers; ocular severity score 8; neuro severity score 0; unscheduled DNA synthesis 6	XPC	XPC	2	1	Johan den Dunnen
00436233	XP22BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Middle East	-	-	-	-	XP	sunburn severity score 0; 11y-first cancer, basal cell carcinoma; no malignant melanoma; 7 nonmelanoma skin cancers; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 13	XPC	XPC	1	1	Johan den Dunnen
00436234	XP21BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Middle East	39y	-	-	-	XP	sunburn severity score 0; 31y-first cancer, basal cell carcinoma; 1 malignant melanoma; 6 nonmelanoma skin cancers; ocular severity score 7; neuro severity score 0; unscheduled DNA synthesis 15	XPC	XPC	1	1	Johan den Dunnen
00436235	XP95BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; 20y-first cancer, malignant melanoma; 9 malignant melanomas; no nonmelanoma skin cancer; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 27	XPC	XPC	1	1	Johan den Dunnen
00436236	XP107BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; 28y-first cancer, melanoma in situ; 4 malignant melanomas; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 41	XPC	XPC	1	1	Johan den Dunnen
00436237	XP29BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Asia	-	-	-	-	XP	sunburn severity score 0; 57y-first cancer, basal cell carcinoma; 3 malignant melanomas; 1 nonmelanoma skin cancer; ocular severity score 2; neuro severity score 1; unscheduled DNA synthesis 33	XPC	XPC	1	1	Johan den Dunnen
00436238	XP109BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 32	ERCC2	ERCC2	3	1	Johan den Dunnen
00436239	XP87BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4; unscheduled DNA synthesis 23	ERCC2	ERCC2	2	1	Johan den Dunnen
00436240	XP70BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 3; 10y-first cancer, squamous cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 4; neuro severity score 6; unscheduled DNA synthesis 10	ERCC2	ERCC2	2	1	Johan den Dunnen
00436241	XP16BR24	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 3; 14y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 16	ERCC2	ERCC2	2	1	Johan den Dunnen
00436242	XP71BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 2; 10y-first cancer, basal cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 19	ERCC2	ERCC2	2	1	Johan den Dunnen
00436243	XP17BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 3; 21y-first cancer, basal cell carcinoma; no malignant melanoma; 2 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 5; unscheduled DNA synthesis 16	ERCC2	ERCC2	2	1	Johan den Dunnen
00436244	XPJCLO	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 8; unscheduled DNA synthesis 19	ERCC2	ERCC2	2	1	Johan den Dunnen
00436245	XP135LO-S	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 3; 13y-first cancer, basal cell carcinoma; no malignant melanoma; 22 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 25	ERCC2	ERCC2	1	1	Johan den Dunnen
00436246	XP135LO	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 3; 12y-first cancer, basal cell carcinoma; 1 malignant melanoma; 50 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 25	ERCC2	ERCC2	1	1	Johan den Dunnen
00436247	XP104LO	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 3; 23y-first cancer, basal cell carcinoma; no malignant melanoma; 4 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 7; unscheduled DNA synthesis 13	ERCC2	ERCC2	2	1	Johan den Dunnen
00436248	XP59BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 2; 36y-first cancer, basal cell carcinoma; 5 malignant melanomas; 23 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 3; unscheduled DNA synthesis 24	ERCC2	ERCC2	3	1	Johan den Dunnen
00436249	XP67BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 2; 27y-first cancer, basal cell carcinoma; no malignant melanoma; >40 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 2; unscheduled DNA synthesis 75	ERCC2	ERCC2	3	1	Johan den Dunnen
00436250	XP30BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	mixed	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 36	ERCC2	ERCC2	2	1	Johan den Dunnen
00436251	XP97BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	China; Han	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 53	ERCC2	ERCC2	2	1	Johan den Dunnen
00436252	XP115BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 63	DDB2	DDB2	1	1	Johan den Dunnen
00436253	XP105BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 1; 15y-first cancer, malignant melanoma; 35 malignant melanomas; >120 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 75	DDB2	DDB2	2	1	Johan den Dunnen
00436254	XP98BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 1; 15y-first cancer, basal cell carcinoma; 2 malignant melanomas; >200 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 68	DDB2	DDB2	1	1	Johan den Dunnen
00436255	XP100BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; 9y-first cancer, basal cell carcinoma; no malignant melanoma; >100 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 53	DDB2	DDB2	1	1	Johan den Dunnen
00436256	XP72BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 36	ERCC4	ERCC4	1	1	Johan den Dunnen
00436257	XP32BR37	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 16	ERCC4	ERCC4	2	1	Johan den Dunnen
00436258	XP24BR37	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 6; unscheduled DNA synthesis 4	ERCC4	ERCC4	2	1	Johan den Dunnen
00436259	XP104BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Pakistan	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 5; unscheduled DNA synthesis 0	ERCC5	ERCC5	1	1	Johan den Dunnen
00436260	XP118BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 3	ERCC5	ERCC5	2	1	Johan den Dunnen
00436261	XP55BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Somalia	-	-	-	-	XP	sunburn severity score 1; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 4; unscheduled DNA synthesis 1	ERCC5	ERCC5	1	1	Johan den Dunnen
00436262	XP56BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Somalia	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 4; unscheduled DNA synthesis 1	ERCC5	ERCC5	1	1	Johan den Dunnen
00436263	XP34BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 4; neuro severity score 4; unscheduled DNA synthesis 3	ERCC5	ERCC5	2	1	Johan den Dunnen
00436264	XP120BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 3; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 4;	ERCC5	ERCC5	2	1	Johan den Dunnen
00436265	XP119BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 3; 20y-first cancer, basal cell carcinoma; no malignant melanoma; 1 nonmelanoma skin cancer; ocular severity score 3; neuro severity score 4;	ERCC5	ERCC5	2	1	Johan den Dunnen
00436266	XP101BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 2; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 6; unscheduled DNA synthesis 14	ERCC5	ERCC5	1	1	Johan den Dunnen
00436267	XP1NO	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; 16y-first cancer, squamous cell carcinoma; no malignant melanoma; 5 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 144	POLH	POLH	1	1	Johan den Dunnen
00436268	XP5B1	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 111	POLH	POLH	2	1	Johan den Dunnen
00436269	XP1CH	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; 22y-first cancer, melanoma in situ; 1 malignant melanoma; no nonmelanoma skin cancer; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 99	POLH	POLH	2	1	Johan den Dunnen
00436270	XP110BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; 23y-first cancer, malignant melanoma; 3 malignant melanomas; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 87	POLH	POLH	2	1	Johan den Dunnen
00436271	XP136LO	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; 42y-first cancer, basal cell carcinoma; 12 malignant melanomas; 11 nonmelanoma skin cancers; ocular severity score 0; neuro severity score 0; unscheduled DNA synthesis 91	POLH	POLH	2	1	Johan den Dunnen
00436272	XP63BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; 38y-first cancer, basal cell carcinoma; 15 malignant melanomas; >20 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 1; unscheduled DNA synthesis 130	POLH	POLH	2	1	Johan den Dunnen
00436273	XP64BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	mixed	-	-	-	-	XP	sunburn severity score 0; no malignant melanoma; no nonmelanoma skin cancer; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 144	POLH	POLH	1	1	Johan den Dunnen
00436274	XP115LO25	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	Middle East	-	-	-	-	XP	sunburn severity score 0; 21y-first cancer, squamous cell carcinoma; 17 malignant melanomas; 16 nonmelanoma skin cancers; ocular severity score 5; neuro severity score 0; unscheduled DNA synthesis 100	POLH	POLH	1	1	Johan den Dunnen
00436275	XP85BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; 44y-first cancer, basal cell carcinoma; no malignant melanoma; 120 nonmelanoma skin cancers; ocular severity score 3; neuro severity score 0; unscheduled DNA synthesis 90	POLH	POLH	2	1	Johan den Dunnen
00436276	XP36BR	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; 33y-first cancer, malignant melanoma; 10 malignant melanomas; >10 nonmelanoma skin cancers; ocular severity score 4; neuro severity score 0; unscheduled DNA synthesis 99	POLH	POLH	2	1	Johan den Dunnen
00436277	XP36BR-S	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 0; 44y-first cancer, malignant melanoma; 13 malignant melanomas; 21 nonmelanoma skin cancers; ocular severity score 1; neuro severity score 0; unscheduled DNA synthesis 99	POLH	POLH	2	1	Johan den Dunnen
00436278	XP6DU	PubMed: Fassihi 2016	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	XP	sunburn severity score 1; 39y-first cancer, malignant melanoma; >8 malignant melanomas; >30 nonmelanoma skin cancers; ocular severity score 2; neuro severity score 0; unscheduled DNA synthesis 100	POLH	POLH	2	1	Johan den Dunnen

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Global Variome shared LOVD

HDAC9 (histone deacetylase 9)