All individuals with variants in gene VWA1

14 entries on 1 page. Showing entries 1 - 14.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00303430 Fam1 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected parents F - - - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00303431 Fam2 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected parents F - - - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00303432 Fam3 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected parents M - - - - - - - CMT see paper; ... 2 1 Johan den Dunnen
00303433 Fam4 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected heterozygous carriermother M - - - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00303434 Fam5 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00303435 Fam6 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected parents M - - - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00303436 Fam7 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00303437 Fam8 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected parents F - - - - - - - CMT see paper; ... 2 1 Johan den Dunnen
00303438 Fam9 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00303439 Fam10 Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - CMT see paper; ... 1 2 Johan den Dunnen
00303440 Fam Pagnamenta ESHG2020 C20.1 5-generation family, 2 affected (2M), unaffected parents M - - - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00303441 Fam Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - CMT see paper; ... 1 2 Johan den Dunnen
00303442 Fam Pagnamenta ESHG2020 C20.1 2-generation family, affected male twins, unaffected parents M - Netherlands - - - - - CMT see paper; ... 1 1 Johan den Dunnen
00303443 Fam Pagnamenta ESHG2020 C20.1 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - CMT see paper; ... 1 1 Johan den Dunnen
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