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Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Chen, 2020	Case report/Case series	2	n.a.	50%	7(+/-6)	p.Asp96Asn + p.Val56Met: comp. het. p.Lys91Arg: comp. het.
Almannai, 2019	Other/Mixed	9	B	22%	0(+/-0)	p.Val57del: hom p.Ile114Met: hom p.Asn52Ser: hom p.Pro123Ser: hom p.Thr67Met: hom p.Met80Val: hom Show more (+3)
Fernández-Lainez, 2018	Case report/Case series	5	H	n.a.	0(+/-0)	p.Arg25* + p.Ala111Ser: comp. het. p.Ala111Ser: hom p.Val132Tyrfs*19: hom
Chaiyasap, 2017	Mutational screen	1	A	100%	n.a.	p.Asn52Ser + p.Thr67Met: comp. het.
Stojiljkovic, 2015	Case report/Case series	1	C	100%	3	p.Asp136Val: hom
Unknown, 2011	Other/Mixed	10	n.a.	n.a.	n.a.	p.Pro87Ser + p.Arg25Gly: comp. het. p.Thr106Met + p.Val56Met: comp. het. p.Asp96Asn: comp. het. p.Asn52Ser: hom p.Asn52Ser: comp. het. Show more (+2)
Leuzzi, 2010	Case report/Case series	10	n.a.	70%	0(+/-0)	p.Asn47Asp + p.Ile18Thr: comp. het. c.187-37insG: hom p.Lys129Glu + p.Thr67Met: comp. het. c.84-3C>G + p.Ser28Lysfs2: comp. het. p.Pro87Leu: hom p.Arg9Cys + p.Pro87Leu: comp. het. p.Val132Tyrfs19 + p.Thr106Met: comp. het. p.Asn52Ser: hom Show more (+5)
Vatanavicharn, 2009	Case report/Case series	1	A	0%	0	p.His49Gln + p.Pro87Ser: comp. het.
Porta, 2009	Case report/Case series	3	n.a.	100%	0(+/-0)	p.Pro87Leu: hom p.Asn52Ser: hom
Jäggi, 2008	Other/Mixed	3	n.a.	67%	0(+/-0)	p.Asp136Val + p.Thr67Met: comp. het. p.Glu35Gly: comp. het. p.Thr67Met: hom