MDSGene

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Tan, 2019	Mutational screen	2	O	n.a.	40(+/-7)	c.(?_-94)_(387+1_388-1)del + p.Trp90*: comp. het. c.(959+1_960-1)_(1123+1_1124-1)del: hom
Wang, 2018	Family study	1	A	100%	28	p.Lys520Argfs*3: hom
Russ, 2018	Other/Mixed	1	n.a.	100%	36	p.Gln456*: hom
Schormair, 2018	Mutational screen	1	C	0%	20	p.Arg492*: hom
Gustavsson, 2017	Mutational screen	4	C	0%	41(+/-8)	c.(776+1_777-1)_(1123+1_1124-1)del + p.His360Arg: 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.Ser73Leu Show more (+2) + p.Arg152Trp + c.(776+1_777-1)_(959+1_960-1)dup: comp. het.
Bouhouche, 2017	Other/Mixed	2	D	100%	48(+/-8)	p.Gln456*: hom p.Leu539Phe: hom
Zech, 2017	Mutational screen	1	C	0%	24	p.Leu249Val + p.Ala339Thr: comp. het.
Norman, 2017	Family study	1	D	n.a.	29	p.Ala217Asp: hom
Taghavi, 2017	Other/Mixed	6	n.a.	33%	28(+/-9)	p.Arg246*: hom
Spataro, 2017	Mutational screen	1	C	0%	40	p.Trp90*: hom