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Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Bijarnia-Mahay, 2020	Case report/Case series	1	n.a.	0%	0	p.Thr399Met + c.-2188_103-194del: comp. het.
Chen, 2020	Case report/Case series	22	A	64%	0(+/-0)	p.Arg233His + p.Arg129: comp. het. p.Arg245Met + p.Arg153: comp. het. p.Gly247Ser + p.Ser349Pro: comp. het. p.Arg233His: hom c.1070+1G>T: comp. het. p.Gly315Ser: comp. het. p.Thr256Ile + c.1071-1_1112delGCCAGCATGGGCACGTGCCCCAGCAGCTCGTGGCAGCAGTCCC: comp. het. c.-71C>T: comp. het. p.Asp491His: comp. het. c.738-2A>G + p.His347Tyr: comp. het. p.Thr494Met: comp. het. p.His361Gln + p.Gly414Arg: comp. het. p.Gln232*: comp. het. p.Pro223Leu: comp. het. c.737+8_737+9delGCinsTT: comp. het. Show more (+12)
Bally, 2020	Case report/Case series	1	n.a.	100%	38	p.Leu99Argfs*15 + p.Ser390Leu: comp. het.
Hou, 2019	Case report/Case series	3	A	67%	0(+/-0)	p.Arg484Leu + p.Arg233His: comp. het. c.581-1G>A: comp. het. p.Glu258Gln + p.Arg129*: comp. het.
Couto, 2019	Case report/Case series	1	n.a.	0%	3	p.Leu273Phe: hom
Feng, 2018	Case report/Case series	1	A	100%	0	p.Arg153* + p.Arg233His: comp. het.
Ma, 2018	Mutational screen	1	A	0%	25	p.Pro249Leu: hom
Yang, 2018	Case report/Case series	2	A	0%	1	p.Gly247Ser + p.Arg153*: comp. het. p.Arg233His: hom
Kuwabara, 2018	Case report/Case series	1	A	0%	0	p.Arg233His + c.1141-1G>A: comp. het.
Katus, 2017	Case report/Case series	1	A	100%	n.a.	p.Thr494Met: hom