MDSGene

Filter for

carrying

Country

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Yamashita, 2017	Mutational screen	2	A	50%	32(+/-10)	p.Ala499Thr: hom
Guo, 2017	Case report/Case series	1	n.a.	100%	7	p.Ser359Ser + p.Lys545Arg: comp. het.
Li, 2016	Sib pair study	2	A	100%	1(+/-0)	p.Arg591Trp + p.Met1Val: comp. het.
Klein, 2016	Family study	2	n.a.	0%	31(+/-14)	p.Arg543Cys + c.610-1G>T: comp. het.
Al-Maawali, 2016	Case report/Case series	9	n.a.	67%	n.a.	p.Val236Asp + p.Ala244_Asn247del: comp. het. p.Ile366Asn: hom p.Gln797* + p.Arg741Trp: comp. het. p.Lys678Glu: hom p.Ala316dup + p.Arg329His: comp. het. p.Pro593Leu Show more (+3) + p.Asn658Lys: comp. het.
Blake, 2016	Case report/Case series	1	n.a.	0%	2	p.Leu560Trpfs5 + p.Tyr790: comp. het.
Bohlega, 2016	Family study	3	n.a.	33%	24(+/-2)	p.Arg741Gln: hom
Kapoor, 2016	Mutational screen	10	n.a.	70%	3(+/-3)	p.Arg741Trp: hom p.Gly347Arg: hom p.Arg70*: hom p.Arg329Cys: hom p.Ala80Thr: hom p.Leu224Pro: hom p.Asp283Asn: hom p.Ala516Val: hom p.Leu491Phe: hom p.Arg538His: hom p.Arg649His Show more (+8) + p.Gly638Arg: comp. het.
Kulkarni, 2016	Case report/Case series	2	n.a.	50%	2(+/-1)	p.Lys683*: hom p.Leu224Pro: hom
Yamamoto, 2015	Case report/Case series	1	n.a.	0%	n.a.	p.Asp283Asn: het c.426_797del372: n.a.