Skip to main content
. 2020 Mar 24;21:59. doi: 10.1186/s12881-020-00998-z

Table 1.

Variants identified in the families with ID and neurodevelopmental disorders

Gene cDNA Protein Mutation Taster Provean CADD Score GERP_RS
VPS53 c.C605T p.P202L Disease_causing Deleterious 10 3.83
GLB1 c.C1318T p.H440Y Disease_causing Deleterious 30 5.35
MLC1 c.C959A p.T320K Disease_causing Deleterious 29.9 3.9