MDSGene

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Gustavsson, 2017	Mutational screen	4	C	0%	41(+/-8)	p.His360Arg + c.(776+1_777-1)_(1123+1_1124-1)del: comp. het. c.(776+1_777-1)_(1123+1_1124-1)del: hom p.Leu77Pro : hom c.(776+1_777-1)_(1123+1_1124-1)del: het p.Arg152Trp Show more (+2) + c.(776+1_777-1)_(959+1_960-1)dup + p.Ser73Leu: comp. het.
Bouhouche, 2017	Mutational screen	2	D	100%	48(+/-8)	p.Gln456*: hom p.Leu539Phe: hom
Zech, 2017	Mutational screen	1	C	0%	24	p.Ala339Thr + p.Leu249Val: comp. het.
Norman, 2017	Family study	1	D	n.a.	29	p.Ala217Asp: hom
Spataro, 2017	Mutational screen	1	C	0%	40	p.Trp90*: hom
Ben, 2016	Family study	1	n.a.	100%	54	p.Leu539Phe: hom
Halder, 2015	Mutational screen	1	n.a.	100%	31	p.Gln267*: hom
Al-Mubarak, 2015	Mutational screen	3	n.a.	67%	50(+/-17)	p.Thr313Met: hom p.Gly409Arg: hom
Steele, 2015	Mutational screen	3	O	33%	50(+/-17)	p.Leu347Pro: hom
Siuda, 2014	Family study	2	C	50%	22(+/-8)	p.Gln456*: hom