Table 1.

RPL10 variants described in human pathology; rows with a yellow background are those containing information of RPL10 mutations in inherited diseases, rows in light blue are those related to cancer, the row in green is related to both. CDS, coding sequence; aa, amino acid.

CDS Position	aa Substitution	Pathology	Reference
c.191C > T	A64V	intellectual disability, cerebellar hypoplasia, skeletal abnormalities	[13]
c.232A > G	K78E	mental retardation, seizures and microcephaly, epilepsy	[37,56]
c.481G > A	G161S	syndromic intellectual disability	[69]
c.605G > A	S202N	intellectual disability	[9]
c.616C > A	L206M	autism	[9,55]
c.639C > G	H213Q	autism, pancreatic cancer	[9,20,40,44]
c.97A > G	I33V	multiple myeloma	[68]
c.197A > G	E66G	multiple myeloma	[68]
c.208A > C	I70L	multiple myeloma	[68]
c.210T > G	I70M	multiple myeloma	[68]
c.292C > A	R98S	infant T-ALL	[64]
c.292C > T	R98C	infant T-ALL	[64]
c.368A > C	Q123P	infant T-ALL	[64]