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Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Deodato, 2017	Case report/Case series	3	C	0%	9(+/-10)	p.Arg201His + c.1068+1G>T: comp. het. p.Ile51Asn: comp. het. p.Arg442Gln + p.Thr329Ala: comp. het.
Kannebley, 2015	Case report/Case series	8	n.a.	50%	17	p.Thr384Ser + p.Thr500Ala: comp. het. p.Arg49His: comp. het. p.Arg201His: comp. het. p.Gly311Arg: comp. het. p.Phe107Leu + p.Leu173Pro: comp. het. p.Ile354Ser: comp. het. Show more (+3)
Takenouchi, 2015	Case report/Case series	2	n.a.	100%	12	p.Arg201Cys + p.Tyr174His: comp. het.
Vieira, 2013	Case report/Case series	1	n.a.	100%	4	p.Gly438Glu: hom
Pierson, 2012	Case report/Case series	1	n.a.	0%	3	p.Arg201His + p.Gly262Val: comp. het.
Caciotti, 2011	Case report/Case series	4	C	0%	3(+/-1)	p.Arg351* + p.Ser191Asn + p.Arg109Trp: comp. het. p.Arg201His + p.Ile51Asn: comp. het. p.Gly438Glu: hom p.Arg442Gln Show more (+1) + p.Trp92*: comp. het.
Caciotti, 2005	Case report/Case series	1	n.a.	n.a.	n.a.	p.Thr329Ala + p.Arg442Gln: comp. het.
Roze, 2005	Case report/Case series	4	n.a.	25%	7(+/-6)	p.Lys73Glu + p.Arg148Cys: comp. het. p.Gly438Glu: hom p.Arg49His + p.Trp527Leufs*5: comp. het.
Hirayama, 1997	Case report/Case series	1	n.a.	100%	28	p.Ile51Thr: hom
Tanaka, 1995	Case report/Case series	1	A	0%	2	p.Ile51Thr: hom