Table 1.

COL1A1 mutations in unrelated Vietnamese OI patients

No	Patient ID	COL1A1 mutation	Exon	Mutation type	Protein alteration	Sillence OI type
1	VN01	c.2461G > GA	Exon 37	Missense	p.Gly821Ser	I
		c.2005G > GA*	Exon 30	Missense	p.Ala669Thr,
2	VN02	c.1200 + 1G > GT*	Intron 18	Splice site	–	I
3	VN05	c.1072delC, het*	Exon 17	Frameshift	p.Glu358Lysfs*26	III
4	VN13	c.4391 T > C	Exon 52	Missense	p.Leu1464Pro	I
5	VN18	c.103 + 2 T > TC*	Intron 1	Splice site	–	IV
6	VN21	c.4352dupA, het.*	Exon 52	Nonsense Frameshift	p.Asp1451Glufs*100	IV
7	VN26	c.3226G > GA	Exon 45	Missense	p.Gly1076Ser	IV
8	VN34	c.2461G > GA	Exon 37	Missense	p.Gly821Ser,	IV
9	VN38	c.959G > GA*	Exon 15	Missense	p.Gly320Asp	IV
10	VN39	c.630delG, het*	Exon 8	Frameshift	p.Glu210Aspfs*3	III
11	VN40	c.2461G > GA	Exon 37	Missense	p.Gly821Ser	IV
12	VN41	c.1102G > GA	Exon 17	Missense	p.Gly368Ser	IV
13	VN49	c.2461G > GA	Exon 37	Missense	p.Gly821Ser	IV
14	VN50	c.932G > GT*	Exon 14	Missense	p.Gly311Val	III
15	VN51	c.949G > GA*	Exon 14	Missense	p.Gly317Ser	IV
16	VN52	c.2523delT, het.	Exon 37	Frameshift Nonsense	p.Gly842Alafs*266	I
17	VN58	c.2236-2A > AG*	Intron 32	Splice site	-	I
18	VN66	c.2596G > AG*	Exon 38	Missense	p.Gly866Ser	III
19	VN68	c.2299G > GA	Exon 33/34	Missense	p.Gly767Ser	I
20	VN70	c.2281G > GA*	Exon 33/34	Missense	p.Gly761Ser	IV
21	VN71	c.1002 + 2 T > C	Intron 15	Splice site	–	IV
22	VN72	c.1165G > GT	Exon 18	Missense	p.Gly389Cys	I
23	VN76	c.1165G > GA	Exon 18	Missense	p.Gly389Ser	III
24	VN78	c.3766G > GA	Exon 49	Missense	p.Ala1256Thr	I
25	VN86	c.977G > AG	Exon 15	Missense	p.Gly326Asp	I
26	VN88	c.2005G > GA*	Exon 30	Missense	p.Ala669Thr	IV
27	VN89	c.2005G > GA*	Exon 30	Missense	p.Ala669Thr	IV
28	VN91	c.1299 + 1G > C	Intron 19	Splice site	–	IV
29	VN92	c.2299G > GA	Exon 33/34	Missense	p.Gly767Ser	III
30	VN95	c.590G > GA	Exon 8	Missense	p.Gly197Asp	I
31	VN99	c.103 + 2 T > TC*	Intron 1	Splice site	–	I
32	VN104	c.3369 + 1G > GC*	Intron 46	Splice site	–	I
33	VN106	c.1350G > GC*	Exon 20	Missense	p.Glu450Asp	III

Mutations unreported in the Dalgliesh’s OI database are marked with an asterisk (*). In the case of heterozygous mutation, both the wild type and mutated alleles are indicated after an arrow (>)