Table 2.

RINT1 Bi-allelic Variants (GenBank: NM_021930.5)

Proband (Inher.)	Nucleotide	Protein	Gene Location	gnomAD AF	in silicopredictions (SIFT; PolyPhen; Mutation Taster; M-CAP; PredictSNP2)
Pr 2 (mat)	c.1102G>A	p.Ala368Thr	exon 8	2/250760 (no hom)	tolerated; probably damaging; disease causing; possibly pathogenic; deleterious
Pr 3 (mat)	c.1109T>C	p.Leu370Pro	exon 9	not reported	deleterious; probably damaging; disease causing; possibly pathogenic; deleterious
Pr 1 (pat) & Pr 3 (pat)	c.1333+1G>A	p.?	intron 9	13/251316 (no hom)	N/A
Pr 2 (pat)	c.1333+1G>T	p.?	intron 9	not reported	N/A
Pr 1 (mat)	c.1853_1858del6	p.Val618_Lys619del	exon 12	not reported	N/A

Abbreviations: Inher., inheritance; AF, allele frequency; Pr, proband; mat, maternal; pat, paternal; hom, homozygous; N/A, not applicable.