Table 1.

Intragenic EHMT1 mutations identified in patients 17–29

Patient	Mutation NM_024757.4	Alteration NP_079033.4
17	c.1858C>T	p.Arg620X
18	c.2863_2864del	p.Val955fsX221
19	c.3229C>T	p.Gln1077X
20	c.3180+1G>T	(donor splice site)
21	c.2878_2881	p.Ser960GlyfsX7
22	c.3375–?_3541+?del	(exon 24+25 deletion)
23	c.2029insG	p.Pro677fs
24	exon 12–27 deletion
25	c.3181–80_3233del	p.Tyr1061fs
26	c.3589C>T	p.Arg1197Trp
27	c.3072_3073del	p.Val1026fs
28	c.3126_3127del	p.Gln1043fs
29	c.1858C>T	p.Arg620X