Table 2.

Genetic analysis results of 13 osteogenesis imperfecta patients confirmed by COL1A1 and COL1A2 gene analysis

No.	Sex	Age (yr)	Sillence classification	Gene	Nucleotide change	Amino acid change	ACMG criteria	Mutation type	PolyPhen-2	SIFT	Mutation Taster	CADD score	Clinical score
1	F	51.5	Ia	COL1A1	c.148C>T	p.R50*	Pathogenic	Quantitative	ND	ND	Damaging	34	11
2	F	2.7	Ia	COL1A1	c.1984-7_1985del	Small deletion	Pathogenic	Quantitative	ND	ND	Damaging	ND	8
3	F	5.0	Ia	COL1A1	c.2830-3A>G	Splice site	Likely pathogenic	Quantitative	ND	ND	Damaging	14.41	6
4	F	3.5	Ia	COL1A1	c.3207+1G>A	Splice site	Pathogenic	Quantitative	ND	ND	Damaging	35	8
5	F	0.9	Ia	COL1A1	c.3207+1G>A	Splice site	Pathogenic	Quantitative	ND	ND	Damaging	35	7
6	M	5.8	Ib	COL1A2	c.595-1G>C	Splice site	Pathogenic	Quantitative	ND	ND	Damaging	33	6
7	F	1.0	Ib	COL1A1	c.1678G>A	p.G560S	Pathogenic	Qualitative	Damaging	Damaging	Damaging	29	11
8	F	2.1	Ib	COL1A2	c.1694G>C	p.G565A	Likely pathogenic	Qualitative	Damaging	Damaging	Damaging	25.6	11
9	M	11.0	III	COL1A2	c.982G>A	p.G328S	Pathogenic	Qualitative	Damaging	Damaging	Damaging	28.5	14
10	M	13.0	IV	COL1A2	c.2324G>A	p.G775E	Likely pathogenic	Qualitative	Damaging	Damaging	Damaging	32	10
11	M	6.0	IV	COL1A1	c.635G>A	p.G212E	Pathogenic	Qualitative	Damaging	Damaging	Damaging	26.4	10
12	M	36.3	IV	COL1A2	c.3016G>A	p.G1006S	Likely pathogenic	Qualitative	Damaging	Damaging	Damaging	29.7	12
13	M	18.1	IV	COL1A1	c.1003G>A	p.G335S	Pathogenic	Qualitative	Damaging	Damaging	Damaging	33	12

ACMG, The American College of Medical Genetics and Genomics; PolyPhen, Polymorphism Phenotyping; SIFT, Sorting Intolerant from Tolerant; CADD, The Combined Annotation Dependent Depletion; ND, not done.