NM_021800.3:c.158-2A>G

Likely Pathogenic

Substitution

Epidemiology in the Arab World

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Subject ID	Country of Origin	Allele Frequency	CTGA Clinical Significance	Reference	Remarks
606060.G.1	Qatar	0.009	Likely Pathogenic	Devadoss Gandhi et al. 2024	Unknown number of heterozygous and homoz...