Table 2. CRLF1 mutations found in CS and in CISS1 patients and functionally analyzed.

Mutation number	Origin	CRLF1 exon	DNA sequence variant	Amino acid variant	Mutation type	Syndrome	CRLF1 secretion (%)
M1	Sardinia (Italy)	2	c.226T>G	p.W76G	Missense	CS3	6
M2	Sardinia (Italy)	4	c.676-677insA	p.T226NfsX104	Frameshift	CS3	6
M3	Turkey	5	c.708-709delCCinsT	p.P238RfsX6	Frameshift	CS3	10
M4	Turkey	7	c.1102A>T	p.K368X	Nonsense	CS3	37
M5	Spain	2	c.223T>G	p.Y75D	Missense	CS	0
M6	Spain	5	c.713dupC	p.P239AfsX92	Insertion	CS	0
M7	Libya	4	c.538_539insA	p.D181GfsX5	Insertion	CS	0
M8	Italy	2	c.[338A>T;341T>C]	p.[N113I;L114P]	Missense	CS	0
M9	Canada	4	c.538C>T	p.Q180X	Nonsense	CISS110	0
M10	Canada	5	c.852G>T	p.W284C	Missense	CISS110	63
M11	Norway	5	c.844-845delGT	p.V282GfsX47	Frameshift	CISS111	28
M12	Israel	2	c.242G>A	p.R81H	Missense	CISS111	42
M13	Israel	7	c.1121T>G	p.L374R	Missense	CISS111	74