Table 2.

Pathogenic/likely pathogenic variants were identified in 22 patients with OI

Case number	Gene	Inheritance	Chrome location	Zygosite	Variant	Type	PMID
1	COL1A1	AD	chr17:48,263,790	Het	NM_000088:exon49:c.3893C > A(p.T1298N)	Non-GLY	24,147,872
2	COL1A1	AD	chr17:48,265,257	Het	NM_000088:exon45:c.3349C > T(p.Q1117X)	Nonsense	21,667,357
3	COL1A1	AD	chr17:48,265,311	Het	NM_000088:exon45:c.3291_3294dup	del < 10 bp
4	COL1A1	AD	chr17:48,266,147	Het	NM_000088:exon42:c.3054delT	del < 10 bp
5	COL1A1	AD	chr17:48,266,305	Het	NM_000088:exon41:c.3004C > T(p.P1002S)	Non-GLY
6	COL1A1	AD	chr17:48,267,039	Het	NM_000088:exon38:c.2667 + 1G > A	Splicing	16,879,195
7	COL1A1	AD	chr17:48,270,212	Het	NM_000088:exon27:c.1822-1G > T	Splicing
8	COL1A1	AD	chr17:48,272,592	Het	NM_000088:exon19:c.1299 + 1G > A	Splicing	12,590,186
9	COL1A1	AD	chr17:48,272,138	Het	NM_000088:exon21:c.1405C > T(p.R469X)	Nonsense	19,358,256
10	COL1A1	AD	chr17:48,272,434	Het	NM_000088:exon20:c.1326del	del < 10 bp
11	COL1A1	AD	chr17:48,273,541	Het	NM_000088:exon15:c.977G > A(p.G326D)	GLY-Asp	17,078,022
12	COL1A1	AD	chr17:48,276,625	Het	NM_000088:exon5: c.432dupC	del < 10 bp	22,753,364
13	COL1A1	AD	chr17:48,276,686	Het	NM_000088:exon5:c.371del	del < 10 bp
14	COL1A1	AD	chr17:48,274,426	Het	NM_000088:exon11:c.751-2A > G	Splicing	25,963,598
15	COL1A2	AD	chr7:94,028,374	Het	NM_000089:exon4:c.110A > G(p.D37G)	Non-GLY	27,748,872
16	COL1A2	AD	chr7:94,037,169	Het	NM_000089:exon13:c.605G > A(p.G202D)	GLY-Asp	17,078,022
17	COL1A2	AD	chr7:94,040,368	Het	NM_000089:exon23:c.1252G > A(p.G418S)	GLY-Ser	17,078,022
18	COL1A2	AD	chr7:94,039,080	Het	NM_000089:exon19:c.982G > A(p.G328S)	GLY-Ser	7,860,070
19	COL1A2	AD	chr7:94,039,080	Het	NM_000089:exon19:c.982G > A(p.G328S)	GLY-Ser	7,860,070
20	COL1A2	AD	chr7:94,040,368	Het	NM_000089:exon23:c.1252G > A(p.G418S)	GLY-Ser	17,078,022
21	COL1A2	AD	chr7:94,049,573	Het	NM_000089:exon35:c.2108G > T(p.G703V)	GLY-Val
22	COL1A2	AD	chr7:94,051,230	Het	NM_000089:exon39:c.2369G > C(p.G790A)	GLY-Ala	28,378,289