Table 2.

Molecular description of the cohort.

				Amino-acids	Nucleotides	Exon	N (%)
KMT2D							82 (78%)
	PTV						61 (74%)
		Nonsense					40 (49%)
			Nonsense				20 (24%)
				p.Cys247*	c.741T>A	7	1
				p.Ser286*	c.855_856del	7	1
				p.Gln1773*	c.5317C>T	22	1
				p.Gln1949*	c.5845C>T	27	1
				p.Gln2109*	c.6325C>T	31	1
				p.Arg2645*	c.7933C>T	31	1
				p.Arg2801*	c.8401C>T	34	1
				p.Gln3910*	c.11728C>T	39	1
				p.Gln3942*	c.11824C>T	39	1
				p.Gln4223*	c.12667C>T	39	1
				p.Gln4230*	c.12688C>T	39	2
				p.Arg4484*	c.13450C>T	39	1
				p.Arg4904*	c.14710C>T	48	1
				p.Arg5282*	c.15844C>T	49	1
				p.Tyr5321*	c.15963T>G	50	1
			Frameshift				20 (24%)
				p.Leu656Profs*12	c.1966dup	10	1
				p.Glu1224Argfs*26	c.3669dup	11	1
				p.Gly1235Valfs*95	c.3699del	11	1
				p.Met1379Valfs*52	c.4135_4136del	14	1
				p.Asp1876Glyfs*38	c.5627_5630del	25	1
				p.Ser2039Glnfs*8	c.6115del	29	2
				p.Ala2119Argfs*36	c.6354dup	31	1
				p.Pro2330Serfs*47	c.6987_6988insT	31	1
				p.Phe3672Leufs*76	c.11016_11019del	39	1
				p.Met3894Trpfs*85	c.11679del	39	1
				p.Glu4039Glyfs*17	c.12116_12117del	39	1
				p.Ser4138Cysfs*29	c.12413_12414del	39	1
				p.Leu4483Cysfs*36	c.13446del	39	1
				p.Tyr5113Leufs*25	c.15337dup	48	1
				p.Lys5139Gly	c.15415_15418del	48	1
				p.Leu5318Serfs*14	c.15953_15956del	50	1
		Splice donor site					21 (26%)
					c.674-1G>A		1
					c.1258+1G>A		1
					c.2797+1G>C		1
					c.13531-2A>C		1
					c.14516-1G>C		1
	PAV						15 (18%)
		Missense					14 (17%)
				p.Ala2182Thr		10	1
				p.Glu1391Lys	c.4171G>A	14	1
				p.Arg5048Cys	c.15142C>T	48	1
				p.Arg5048His	c.15143G>A	48	1
				p.Arg5154Gln	c.15461G>A	48	2
				p.Arg5179His	c.15536G>A	48	2
				p.Arg5214Cys	c.15640C>T	48	1
				p.Gly5295Ala	c.15884G>C	49	1
				p.Arg5340Gln	c.16019G>A	50	3
				p.Arg5432Trp	c.16294C>T	51	1
		Indel					1 (1%)
				p.Val275Ser	c.822_825delinsGTAGGCT	7	1
KDM6A							23 (22%)
	PTV						18 (78%)
		Nonsense					10 (43%)
			Nonsense				7 (30%)
				p.Tyr109*	c.327_333del	3	1
				p.Arg172*	c.514C>T	6	1
				p.Gln692*	c.2074C>T	17	1
				p.Gln1037*	c.3109C>T	20	1
				p.Trp1221*	c.3663G>A	25	1
				p.Arg1279*	c.3835C>T	26	2
			Frameshift				3 (13%)
				p.Gln607Alafs*25	c.1818_1819del	16	1
				p.Thr613Tyrfs*8	c.1846_1849del	16	1
				p.Ser1091Metfs*12	c.3270_3273del	17	1
		Splice donor site					7 (30%)
					c.564+1G>T		1
					c.619+6T>C		1
					c.620-2A>G		1
					c.875+1G>A		1
					c.2939-1G>T		1
					c.2988+1G>C		1
					c.3366-8_3366-4del		1
		Large deletion					1 (4%)
					exons 1 and 2		1
	PAV						2 (9%)
		Missense					2 (9%)
				p.Arg481His	c.1442G>A	14	1
				p.Arg1255Trp	c.3763C>T	26	1

KMT2D , Lysine (K)-specific methyltransferase 2D; KDM6A, Lysine (K)-specific demethylase 6A; PTV, protein-truncating variant; PAV, protein-altering variant.