NM_001283009.2:c.1993G>A

Pathogenic, Uncertain Significance

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Reference	Remarks
608833.1.1	Lebanon	2	Pathogenic	Gutierrez-Rodrigues et al, 2019	Proband, individual 'IV-3' in the public...
608833.1.2	Lebanon	2	Pathogenic	Gutierrez-Rodrigues et al, 2019	Mother of 608833.1.1
608833.1.3	Lebanon	2	Pathogenic	Gutierrez-Rodrigues et al, 2019	Sibling of 608833.1.1
608833.1.4	Lebanon	2	Pathogenic	Gutierrez-Rodrigues et al, 2019	Sibling of 608833.1.1
608833.1.5	Lebanon	2	Pathogenic	Gutierrez-Rodrigues et al, 2019	Sibling of 608833.1.1
608833.1.6	Lebanon	2	Pathogenic	Gutierrez-Rodrigues et al, 2019	Sibling of 608833.1.1
608833.1.7	Lebanon	2	Pathogenic	Gutierrez-Rodrigues et al, 2019	Sibling of 608833.1.1
608833.1.8	Lebanon	2	Pathogenic	Gutierrez-Rodrigues et al, 2019	Sibling of 608833.1.1
608833.1.9	Lebanon	2	Uncertain Significance	Gutierrez-Rodrigues et al, 2019	Asymptomatic sibling of 608833.1.1
608833.1.10	Lebanon	1	Uncertain Significance	Gutierrez-Rodrigues et al, 2019	Asymptomatic cousin of 608833.1.1