Table 1.

Characteristics of DDX41 mutants.

Family	Cases	Age	Sex	Disease	Germline event	DDX41 somatic mutation	Cytogenetics
Family 1	1	70	M	pAML	P.D140fs	P.R525H	Normal
Family 1	2	44	F	sAML	P.D140fs	No	Normal
Family 1	3	45	M	pAML	P.D140fs	P.R525H	Normal
Family 2	4	64	M	RCMD	P.I396T	P.R525H	Normal
Family 2	5	66	M	RCMD	P.I396T	P.R525H	Normal
Family 3	6	67	M	RAEB-I	P.D140fs	P.R525H	Normal
Family 4	7	73	M	sAML	P.D140fs	N/A	46,XY,r(7)(p11q21)[7]/46,XY[8]
Family 4	8	56	M	pAML	P.D140fs	N/A	46,XY,del(20)(q11.21q13.33)[4]/46,XY[14]
Family 5	9	72	M	RAEB-I	P.D140fs	P.R525H	Normal
Family 6	10	62	M	RAEB-II	P.D140fs	No	Normal
Family 7	11	65	M	RAEB-I	P.F183I	P.R525H	Normal
	12	85	M	sAML	P.D140fs	P.R525H	47,XY,+8[2]/46,XY[18]
	13	74	M	sAML	P.Q52fs	P.A225D	44,XY,del(7)(q22),−16,−17,−18,−20, +2mar[2]/45,idem,+8[10]/46,XY[8]
	14	58	M	RAEB-I	P.D140fs	No	Normal
	15	69	M	CMML-1	P.D140fs	No	N/A
	16	88	M	RAEB-I	P.D140fs	No	Normal
	17	71	M	pAML	P.D140fs	No	Normal
	18	68	M	sAML	P.D140fs	No	46,XY,−7,+mar[2]/46,XY[19]
	19	78	M	RAEB-1	P.M155I	No	46,XY,del(20)(q11.2)[17]
	20	64	M	5q-syndrome	No	P.R525H	46,XY,del(5)(q12q33)[6]
	21	68	M	RAEB-II	No	P.R525H	Normal
	22	63	M	pAML	No	P.R525H	Normal
	23	66	M	RCMD	No	P.R525H	Normal
	24	46	M	RAEB-II	No	P.R525H	Normal
	25	78	M	RCMD	No	P.P321L	Normal
	26	70	F	5q-syndrome	No	P.E247K	46,XX,del(5)(q13q33) [20]
	27	68	M	pAML	No	Splice site (e11+1)	Normal

See also Figure S2 and Table S1