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Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Darling, 2019	Case report/Case series	16	n.a.	n.a.	n.a.	p.Phe542Leu + p.Arg635: comp. het. p.Gly517Argfs29: hom p.Tyr790* + p.Arg741Trp: comp. het. p.Gln673: hom p.Ala227Val: hom p.Arg635: hom p.Tyr790*: hom p.Arg741Trp: hom p.Glu547Gly: hom p.His479Asp: comp. het. p.Ala343Thr Show more (+8) + p.Leu337Gln: comp. het.
Kamel, 2019	Case report/Case series	1	n.a.	0%	n.a.	p.Asp739His: hom
Huang, 2018	Case report/Case series	1	n.a.	100%	31	p.Asp331Tyr + p.Ser359Ser: comp. het.
Chen, 2018	Case report/Case series	4	A	75%	28(+/-3)	p.Gly373Arg + p.Ser504Leu: comp. het. p.Ala639Thr + p.Pro223Leu: comp. het. p.Thr661Met + p.Asp331Tyr: comp. het. p.Gly740Arg: comp. het. Show more (+1)
Dastsooz, 2017	Case report/Case series	1	n.a.	100%	2	p.Met1Ile: hom
Wirth, 2017	Case report/Case series	2	C	100%	25(+/-3)	p.Arg37* + p.Ser774Ile: comp. het. p.Gly253Val + p.Ala781Thr: comp. het.
Ozes, 2017	Other/Mixed	4	n.a.	100%	10(+/-7)	p.Arg747Trp: hom p.Leu596Phe: hom p.Ser589Thrfs*76 + p.Ala633Val: comp. het.
Tello, 2017	Sib pair study	2	n.a.	0%	n.a.	p.Ala227Val: hom
Michelis, 2017	Case report/Case series	1	n.a.	100%	34	p.Met534Ile + p.Arg635*: comp. het.
Mascalchi, 2017	Sib pair study	2	n.a.	50%	n.a.	c.(609+1_610-1)_(1186+1_1187-1)dup + p.Arg635*: comp. het.