Table 2.

MBOAT7 variants published to date associated with autosomal recessive neurodevelopmental disorder

Publications	Number of individuals	Number of families	Origin	Transcript	gDNA position [hg38]	cDNA position	Predicted Protein change	Exon	Type	gnomAD frequency (All)
Present paper	7	2	Pakistan	NM_024298.3	g.54180849_54180869del21	c.758_778del	p.Glu253_Ala259del	6	Inframe deletion	0.00002333
Johansen et al (2016)	5	2	Pakistan	NM_024298.3	g.54180849_54180869del21	c.758_778del	p.Glu253_Ala259del	6	Inframe deletion	0.00002333
Johansen et al (2016) [7]	4	1	Pakistan	NM_024298.3	g.54180801_54180807delGGCCGCC	c.820_826del	p.Gly274Profs*47	6	Frameshift	–
Johansen et al (2016) [7]	3	1	Egypt	NM_024298.3	g.54188278_54188297del20	c.126_145del	p.Leu43Hisfs*69	3	Frameshift	–
Johansen et al (2016) [7]	2	1	Jordan	NM_024298.3	g.54183591delC	c.423delG	p.Leu142Cysfs*8	5	Frameshift	–
Johansen et al (2016) [7]	2	1	Iraq	NM_024298.3	g.54180772C > G	c.854 + 1G > C	p.?	Intron	Splice	–
Hu et al (2018) [9]	3	1	Iran	NM_024298.3	g.54174394C > T	c.1069G > A	p.Gly357Ser	8	Missense	0.00001702
Santos-Cortez et al (2018) [8]	4	1	Pakistan	NM_024298.3	g.54187242delA	c.251delT	p.Leu84Argfs*25		Frameshift	–
Yalnizoglu et al (2019) [6]	3	1	Turkey	NM_024298.3	g.54174186G > A	c.1278G > A	p.Trp426*	8	Nonsense	–
Yalnizoglu et al (2019) [6]	4	2	Turkey	NM_024298.3	g.54162440_54174072del	c.?	p.?	8	Deletion	–
Yalnizoglu et al (2019) [6]	2	1	Turkey	NM_024298.3	g.54187234C > T	c.259C > T	p.Arg87Gln	4	Missense	0.00001108
Yalnizoglu et al (2019) [6]	2	2	Turkey	NM_024298.3	g.54180936_54180946del	c.680_690del	p.Leu227Profs*65	6	Frameshift	0.000004919
Yalnizoglu et al (2019) [6]	1	1	Turkey	NM_024298.3	g.54174337C > T	c.1126G > A	p.Glu376Lys	8	Missense	0.00003211
Jacher et al. (2019) [10]	1	1	Lebanon	NM_024298.3	g.54178943 T > C	c.855-2A > G	p.?	Intron	Splice	–