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Table 1 Variants identified in the families with ID and neurodevelopmental disorders

From: Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

GenecDNAProteinMutation TasterProveanCADD ScoreGERP_RS
VPS53c.C605Tp.P202LDisease_causingDeleterious103.83
GLB1c.C1318Tp.H440YDisease_causingDeleterious305.35
MLC1c.C959Ap.T320KDisease_causingDeleterious29.93.9