Table 1.

Codon number	Type of mutation	Aminoacid change	Patient	References
1	Missense	MET-ILE	Type II	63
8	Duplication	Duplication THR-ASP	Type II	2
15	Missense	TRP-TERM Code	Type II	13
23	Missense	TRP-TERM Code	Type II	63
29	Missense	TRP-TERM Code	Type II	64
54	Missense	VAL-MET	Type I	26
55	Missense	GLN-TERM Code	Type I	65
68	Missense	GLY-VAL	Type II	25
80	Missense	PRO-LEU	Type II	27
91	Missense	LEU-ARG	Type II	1
111	Missense	LEU-PRO	Type I	66
136	Missense	GLY-GLU	Type I	66
135	Missense	ASP-ASN	Type I	67
136	Missense	GLY-GLU	Type I	66
182	Missense	SER-GLY	Type I	25
208	Deletion	Frameshift/TERM code	Type II	25
217	Missense	VAL-MET	Type I	68
219	Missense	GLY-ALA	Type I	26
225	Missense	ARG-PRO	Type II	63
227	Missense	GLY-ARG	Type II	25
231	Missense	LEU-HIS	Type I	26
240	Missense	TRP-ARG	Type II	27
243	Missense	GLY-ARG	Type I	68
260	Missense	PHE-TYR	Type II	2
270	Missense	LEU-PHE	Type II	25
275	Missense	VAL-ALA	Type I	66
280	Missense	ARG-TERM code	Type II	26
294	Missense	ARG-CYS	Type I	26
298	Missense	ALA-VAL	Type II	25
316	Missense	PRO-SER	Type I	27
319	Missense	ALA-VAL	Type I	65
328	Missense	GLY-SER	Type I	25
335	Missense	PRO-GLN	Type II	26
340	Splicing		Type II	13, 29
341	Missense	ARG-GLY	Type II	63
345	Missense	THR-ILE	Type I	66
347	Missense	ARG-TERM code	Type II	66
363	Missense	LEU-PRO	Type II	2
370	Missense	TYR-CYS	Type II	26
377	Missense	GLU-TERM code	Type I	1
397	Deletion	Frameshift/longer ORF	Type I	30
399	Duplication	Duplication HIS-TYR	Type I	26
445	Deletion	Frameshift/longer ORF	Type II	1