NM_014780.5:c.2863-1G>C

Pathogenic

Substitution

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
273750.4.1	Saudi Arabia	2	NA	Pathogenic	Three M Syndrome 1	Al-Dosari et al. 2012; Maddirevula et al. 2018
273750.4.2	Saudi Arabia	2	NA	Pathogenic	Three M Syndrome 1	Al-Dosari et al. 2012; Maddirevula et al. 2018	Sibling of 273750.4.1
273750.4.3	Saudi Arabia	2	NA	Pathogenic	Three M Syndrome 1	Al-Dosari et al. 2012; Maddirevula et al. 2018	Cousin of 273750.4.1
273750.4.4	Saudi Arabia	2	NA	Pathogenic	Three M Syndrome 1	Al-Dosari et al. 2012; Maddirevula et al. 2018	Sibling of 273750.4.3
273750.7	Saudi Arabia	2	NA	Pathogenic	Three M Syndrome 1	Maddirevula et al. 2018