COL1A2

Osteogenesis Imperfecta

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Introduction

Most cases of osteogenesis imperfecta (OI) (over 80%) stem from pathogenic variants of the collagen type I alpha 1 chain (COL1A1) and collagen type I alpha 2 chain (COL1A2) genes (OMIM *120150 and *120160, respectively) [1]. These genes encode the α1(I) and α2(I) chains of type I collagen, respectively, which is the primary component of the extracellular matrix of bone and skin [2].

COL1A2 is located on chromosome 7q21.3 and contains 52 exons spanning ~37kb, and encodes a 1366 amino acid protein [3, 4]. The primary functional domain of COL1A2 is a triple-helical domain, which allows one alpha 2 chain to pair with two alpha 1 chains, encoded by COL1A1, and form the type I collagen compound [2].

Variant List

To see more information, click on the variant in the table. Hover on the Variant in the table to see its location on the gene. For more information on table headers, HGVS nomenclature, and Laboratory Variant Classification, please use the following links here.

Gene Structure

Variant ID	Variant	Amino Acid Change	Variant Type	Effect Type	Display Variant Classification	Times Observed	Disease Subtype	PMID	Location	Present in ClinVar

COL1A2_0001	c.-94G>A	5UTR	SNV	UTR	Likely Benign	<5		31414283	Exon 1	No
COL1A2_0002	c.-87C>T	5UTR	SNV	UTR	Uncertain Significance	<5		31414283	Exon 1	Yes
COL1A2_0003	c.?	p.Phe4Leu		Missense	Uncertain Significance	<5		27748872, 36951356	Exon 1	Unknown
COL1A2_0004	c.70+717A>G	Intronic	SNV	Intronic	Pathogenic	<5		15077201, 16816023, 28306225, Show More >>	Intron 1	Yes
COL1A2_0005	c.87T>A	p.Thr29=	SNV	Silent	Benign	<5			Exon 3	No
COL1A2_0006	c.87T>C	p.Thr29=	SNV	Silent	Benign	<5			Exon 3	Yes
COL1A2_0007	c.96+112A>G	Intronic	SNV	Intronic	Likely Benign	<5			Intron 3	No
COL1A2_0008	c.97-119C>G	Intronic	SNV	Intronic	Benign	<5			Intron 3	No
COL1A2_0009	c.106G>A	p.Gly36Arg	SNV	Missense	Uncertain Significance	<5		36769638	Exon 4	Yes
COL1A2_0010	c.110A>G	p.Asp37Gly	SNV	Missense	Uncertain Significance	<5	III	27748872, 35044492	Exon 4	Yes
COL1A2_0011	c.118C>A	p.Pro40Thr	SNV	Missense	Uncertain Significance	<5		35723357	Exon 4	Yes
COL1A2_0012	c.122G>A	p.Arg41His	SNV	Missense	Benign	<5			Exon 4	Yes
COL1A2_0013	c.133G>T	p.Gly45Cys	SNV	Missense	Likely Pathogenic	<5		19344236, 31794058, 35456387	Exon 5	No
COL1A2_0014	c.197G>A	p.Gly66Asp	SNV	Missense	Likely Pathogenic	<5		19344236, 31794058	Exon 5	No
COL1A2_0015	c.208C>T	p.Pro70Ser	SNV	Missense	Uncertain Significance	<5	III	28528406	Exon 5	Yes
COL1A2_0016	c.226-2A>G	Intronic	SNV	Splice acceptor	Likely Pathogenic	<5		21801164, 24440294, 35128800, Show More >>	Intron 5	Yes
COL1A2_0017	c.226-1G>A	Intronic	SNV	Splice acceptor	Likely Pathogenic	<5		24440294, 9295084	Intron 5	No
COL1A2_0018	c.226-1G>C	Intronic	SNV	Splice acceptor	Pathogenic	<5		1556139, 24440294, 9295084	Intron 5	Yes
COL1A2_0019	c.246T>C	p.Asp82=	SNV	Silent	Benign	<5			Exon 6	Yes
COL1A2_0020	c.271G>A	p.Gly91Arg	SNV	Missense	Likely Pathogenic	<5		19344236, 31039433	Exon 6	No
COL1A2_0021	c.279+2T>C	Intronic	SNV	Splice donor	Likely Pathogenic	<5		23158907, 24440294, 2454224, Show More >>	Intron 6	Yes
COL1A2_0022	c.279+2T>G	Intronic	SNV	Splice donor	Pathogenic	<5		21801164	Intron 6	No
COL1A2_0023	c.279+1G>A	Intronic	SNV	Splice donor	Pathogenic	<5		1577745, 1712342, 1990839, Show More >>	Intron 6	Yes
COL1A2_0024	c.279G>A	p.Met93Ile	SNV	Missense	Pathogenic	<5		24440294, 2777808, 9295084	Exon 6	Yes
COL1A2_0025	c.279+1G>T	Intronic	SNV	Splice donor	Pathogenic	<5		21801164, 24440294, 32091183, Show More >>	Intron 6	No
COL1A2_0026	c.279+1G>C	Intronic	SNV	Splice donor	Likely Pathogenic	<5		21801164	Intron 6	No
COL1A2_0027	c.280-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	<5		35128800	Intron 6	Yes
COL1A2_0028	c.280-68A>G	Intronic	SNV	Intronic	Benign	<5			Intron 6	Yes
COL1A2_0029	c.293dup	p.Arg99*	Duplication	Frameshift	Pathogenic	<5		16816023, 30821104, 32629534	Exon 7	No
COL1A2_0030	c.298G>A	p.Gly100Ser	SNV	Missense	Likely Pathogenic	<5		19344236, 31039433, 36896471	Exon 7	Yes
COL1A2_0031	c.304C>T	p.Pro102Ser	SNV	Missense	Likely Benign	<5		28391405, 31061748	Exon 7	Yes
COL1A2_0032	c.316G>A	p.Gly106Arg	SNV	Missense	Likely Pathogenic	<5		19344236, 31039433, 31794058	Exon 7	No
COL1A2_0033	c.324+4del	Intronic	Deletion	Splice region	Likely Pathogenic	<5		23692737, 35456387	Intron 7	No
COL1A2_0034	c.326G>A	p.Gly109Asp	SNV	Missense	Likely Pathogenic	<5		19344236, 23692737, 29709596, Show More >>	Exon 8	Yes
COL1A2_0035	c.335G>A	p.Gly112Asp	SNV	Missense	Likely Pathogenic	<5	I	19344236, 26627451	Exon 8	Yes
COL1A2_0036	c.335G>T	p.Gly112Val	SNV	Missense	Pathogenic	<5	I	19344236, 30886339, 31794058	Exon 8	Yes
COL1A2_0037	c.352G>A	p.Gly118Ser	SNV	Missense	Likely Pathogenic	<5		31039433	Exon 8	No
COL1A2_0038	c.353G>A	p.Gly118Asp	SNV	Missense	Likely Pathogenic	<5	I	17078022, 19344236	Exon 8	Yes
COL1A2_0039	c.371G>A	p.Gly124Asp	SNV	Missense	Likely Pathogenic	<5		19344236, 26471105	Exon 8	Yes
COL1A2_0040	c.379G>A	p.Gly127Ser	SNV	Missense	Likely Pathogenic	<5		19344236	Exon 9	No
COL1A2_0041	c.389G>A	p.Gly130Asp	SNV	Missense	Likely Pathogenic	<5	IV	17078022, 19344236	Exon 9	Yes
COL1A2_0042	c.395G>A	p.Arg132His	SNV	Missense	Uncertain Significance	<5	I	31363794	Exon 9	Yes
COL1A2_0043	c.432+3_432+13del	Intronic	Deletion	Splice region	Likely Pathogenic	<5		1551666	Intron 9	No
COL1A2_0044	c.432+1G>T	Intronic	SNV	Splice donor	Pathogenic	<5	IV	15077201, 17078022	Intron 9	Yes
COL1A2_0045	c.432+2T>A	Intronic	SNV	Splice donor	Likely Pathogenic	<5		36268089	Intron 9	Yes
COL1A2_0046	c.432+1G>A	Intronic	SNV	Splice donor	Pathogenic	<5	I	30886339, 33470886	Intron 9	Yes
COL1A2_0047	c.432+5G>A	Intronic	SNV	Splice region	Likely Pathogenic	<5		10694924, 28914264, 31794058, Show More >>	Intron 9	Yes
COL1A2_0048	c.432+4_432+7del	Intronic	Deletion	Splice region	Likely Pathogenic	<5		23692737, 31141158, 31794058, Show More >>	Intron 9	No
COL1A2_0049	c.433-1G>C	Intronic	SNV	Splice acceptor	Pathogenic	<5	I, IV	25436829	Intron 9	Yes
COL1A2_0050	c.451G>A	p.Gly151Arg	SNV	Missense	Uncertain Significance	<5		31039433	Exon 10	Yes
COL1A2_0051	c.478G>A	p.Gly160Arg	SNV	Missense	Pathogenic	<5	I	19344236, 28725987, 30715774	Exon 10	Yes
COL1A2_0052	c.485A>C	p.Gln162Pro	SNV	Missense	Uncertain Significance	<5		32091183	Exon 10	No
COL1A2_0053	c.487-4_501del	Intronic	Deletion	Splice acceptor	Likely Pathogenic	<5		3403536	Intron 10	No
COL1A2_0054	c.487G>A	p.Gly163Ser	SNV	Missense	Likely Pathogenic	<5		31039433	Exon 11	Yes
COL1A2_0055	c.488G>A	p.Gly163Asp	SNV	Missense	Likely Pathogenic	<5	III	19344236, 28528406	Exon 11	No
COL1A2_0056	c.?	p.Thr170Thr		Missense	Uncertain Significance	<5		8829649	Exon 11	Unknown
COL1A2_0057	c.515G>T	p.Gly172Val	SNV	Missense	Uncertain Significance	<5		31039433	Exon 11	Yes
COL1A2_0058	c.533G>A	p.Gly178Asp	SNV	Missense	Uncertain Significance	<5		31039433	Exon 11	No
COL1A2_0059	c.540+5G>A	Intronic	SNV	Splice region	Pathogenic	<5		15077201, 16816023, 28306225, Show More >>	Intron 11	Yes
COL1A2_0060	c.541-2del	Intronic	Deletion	Splice acceptor	Pathogenic	<5	I	30715774	Intron 11	No
COL1A2_0061	c.544C>G	p.His182Asp	SNV	Missense	Uncertain Significance	<5	II	12833172, 18028452	Exon 12	No
COL1A2_0062	c.560G>T	p.Gly187Val	SNV	Missense	Pathogenic	<5	III, IV	19344236, 28904723, 30715774	Exon 12	No
COL1A2_0063	c.560G>A	p.Gly187Glu	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 30715774	Exon 12	No
COL1A2_0064	c.568G>C	p.Gly190Arg	SNV	Missense	Pathogenic	<5	III	19344236, 28725987, 30715774, Show More >>	Exon 12	No
COL1A2_0065	c.569G>A	p.Gly190Glu	SNV	Missense	Likely Pathogenic	<5	I	19344236, 30715774	Exon 12	Yes
COL1A2_0066	c.569G>T	p.Gly190Val	SNV	Missense	Likely Pathogenic	<5	I, IV	17078022, 19344236	Exon 12	Yes
COL1A2_0067	c.577G>C	p.Gly193Arg	SNV	Missense	Pathogenic	<5	I, III	19344236, 28528406, 36951356	Exon 12	Yes
COL1A2_0068	c.577G>T	p.Gly193Cys	SNV	Missense	Pathogenic	<5	I	19344236, 21594610, 29499418	Exon 12	Yes
COL1A2_0069	c.577G>A	p.Gly193Ser	SNV	Missense	Pathogenic	<5	I, IV	16879195, 19344236, 22753364, Show More >>	Exon 12	Yes
COL1A2_0070	c.578G>T	p.Gly193Val	SNV	Missense	Pathogenic	<5	III, IV	19344236, 30715774, 31414283	Exon 12	No
COL1A2_0071	c.578G>A	p.Gly193Asp	SNV	Missense	Pathogenic	<5	III, IV	16882741, 17078022, 19344236, Show More >>	Exon 12	No
COL1A2_0072	c.586G>T	p.Gly196Cys	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 21667357	Exon 12	Yes
COL1A2_0073	c.587G>A	p.Gly196Asp	SNV	Missense	Pathogenic	<5	IV	19344236, 22753364, 30886339	Exon 12	Yes
COL1A2_0074	c.587G>T	p.Gly196Val	SNV	Missense	Pathogenic	<5	III	19344236, 22589248, 23692737, Show More >>	Exon 12	Yes
COL1A2_0075	c.594+5A>T	Intronic	SNV	Splice region	Benign	<5			Intron 12	Yes
COL1A2_0076	c.594+18del	Intronic	Deletion	Intronic	Uncertain Significance	<5		21884818	Intron 12	No
COL1A2_0077	c.594+1G>T	Intronic	SNV	Splice donor	Pathogenic	<5	I	17078022	Intron 12	Yes
COL1A2_0078	c.594+2T>G	Intronic	SNV	Splice donor	Likely Pathogenic	<5	IV	1642148	Intron 12	No
COL1A2_0079	c.594+118del	Intronic	Deletion	Intronic	Benign	<5			Intron 12	No
COL1A2_0080	c.595-1G>C	Intronic	SNV	Splice acceptor	Pathogenic	<5	I	28851938, 35073670	Intron 12	No
COL1A2_0081	c.595-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	<5		16705691	Intron 12	Yes
COL1A2_0082	c.595-3T>A	Intronic	SNV	Splice region	Uncertain Significance	<5	I	11317364	Intron 12	No
COL1A2_0083	c.596G>T	p.Gly199Val	SNV	Missense	Pathogenic	<5	I	19344236, 30715774, 37929041	Exon 13	No
COL1A2_0084	c.596G>A	p.Gly199Asp	SNV	Missense	Pathogenic	<5	I	19344236, 25086671, 31994750, Show More >>	Exon 13	Yes
COL1A2_0085	c.601C>A	p.Pro201Thr	SNV	Missense	Uncertain Significance	<5		35723357	Exon 13	No
COL1A2_0086	c.604G>A	p.Gly202Ser	SNV	Missense	Pathogenic	<5		19344236, 29572562, 34201399	Exon 13	Yes
COL1A2_0087	c.604G>C	p.Gly202Arg	SNV	Missense	Likely Pathogenic	<5	IV	16786509, 19344236, 30942483	Exon 13	Yes
COL1A2_0088	c.605G>T	p.Gly202Val	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 36709916	Exon 13	Yes
COL1A2_0089	c.605G>A	p.Gly202Asp	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 35044492	Exon 13	Yes
COL1A2_0090	c.613G>A	p.Gly205Ser	SNV	Missense	Uncertain Significance	<5		31039433	Exon 13	No
COL1A2_0091	c.614G>C	p.Gly205Ala	SNV	Missense	Uncertain Significance	<5		31039433	Exon 13	Yes
COL1A2_0092	c.623G>A	p.Gly208Glu	SNV	Missense	Likely Pathogenic	<5	II	19344236, 25858481, 27519266, Show More >>	Exon 13	No
COL1A2_0093	c.632G>T	p.Gly211Val	SNV	Missense	Likely Pathogenic	<5		19344236, 28378289, 38536562	Exon 13	No
COL1A2_0094	c.632G>A	p.Gly211Asp	SNV	Missense	Pathogenic	<5	I, IV	16882741, 17078022, 19344236, Show More >>	Exon 13	Yes
COL1A2_0095	c.639+5_639+25del	Intronic	Deletion	Splice region	Likely Pathogenic	<5	I	31737030	Intron 13	No
COL1A2_0096	c.647G>A	p.Arg216His	SNV	Missense	Uncertain Significance	<5	IV	35052464	Exon 14	Yes
COL1A2_0097	c.650G>A	p.Gly217Glu	SNV	Missense	Likely Pathogenic	<5	III	35154279	Exon 14	Yes
COL1A2_0098	c.650G>T	p.Gly217Val	SNV	Missense	Likely Pathogenic	<5	IV	11317364, 17233315, 19344236	Exon 14	No
COL1A2_0099	c.658G>A	p.Gly220Ser	SNV	Missense	Likely Pathogenic	<5		31039433	Exon 14	No
COL1A2_0100	c.659G>A	p.Gly220Asp	SNV	Missense	Pathogenic	<5	IV	19344236, 24342908, 25346689, Show More >>	Exon 14	Yes
COL1A2_0101	c.659G>C	p.Gly220Ala	SNV	Missense	Likely Pathogenic	<5		19344236, 31039433	Exon 14	No
COL1A2_0102	c.661G>A	p.Glu221Lys	SNV	Missense	Uncertain Significance	<5		35723357	Exon 14	No
COL1A2_0103	c.668G>A	p.Gly223Glu	SNV	Missense	Uncertain Significance	<5		31039433	Exon 14	No
COL1A2_0104	c.670C>T	p.Arg224Cys	SNV	Missense	Uncertain Significance	<5		39654947	Exon 14	Yes
COL1A2_0105	c.671G>A	p.Arg224His	SNV	Missense	Uncertain Significance	<5	III, IV	26604951, 33470886	Exon 14	Yes
COL1A2_0106	c.679G>A	p.Ala227Thr	SNV	Missense	Benign	<5			Exon 14	Yes
COL1A2_0107	c.686G>A	p.Gly229Asp	SNV	Missense	Likely Pathogenic	<5		19344236, 32123938	Exon 14	Yes
COL1A2_0108	c.689C>A	p.Pro230Gln	SNV	Missense	Uncertain Significance	<5		32123938	Exon 14	No
COL1A2_0109	c.693+1G>A	Intronic	SNV	Splice donor	Pathogenic	<5	I	24668929, 35822426, 36709916	Intron 14	Yes
COL1A2_0110	c.693+6T>G	Intronic	SNV	Splice region	Likely Pathogenic	<5	I	37293821	Intron 14	Yes
COL1A2_0111	c.693+5G>A	Intronic	SNV	Splice region	Pathogenic	<5	III	23692737, 35456387, 35647203	Intron 14	Yes
COL1A2_0112	c.693+2T>C	Intronic	SNV	Splice donor	Pathogenic	<5	IV	15077201, 31429852	Intron 14	Yes
COL1A2_0113	c.693+1G>C	Intronic	SNV	Splice donor	Pathogenic	<5	IV	30715774	Intron 14	Yes
COL1A2_0114	c.694-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	<5	IV	25086671	Intron 14	Yes
COL1A2_0115	c.700C>T	p.Arg234Cys	SNV	Missense	Uncertain Significance	<5	II	18996919	Exon 15	Yes
COL1A2_0116	c.704G>A	p.Gly235Asp	SNV	Missense	Likely Pathogenic	<5	II	19344236, 25858481, 27519266, Show More >>	Exon 15	Yes
COL1A2_0117	c.713G>A	p.Gly238Glu	SNV	Missense	Likely Pathogenic	<5		31039433	Exon 15	No
COL1A2_0118	c.713G>T	p.Gly238Val	SNV	Missense	Likely Pathogenic	<5		19344236, 33939306	Exon 15	Yes
COL1A2_0119	c.738+98C>A	Intronic	SNV	Intronic	Benign	<5			Intron 15	Yes
COL1A2_0120	c.738+86T>A	Intronic	SNV	Intronic	Benign	<5			Intron 15	Yes
COL1A2_0121	c.739-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	<5	I, III	30715774, 31363794, 38785520	Intron 15	No
COL1A2_0122	c.739G>C	p.Gly247Arg	SNV	Missense	Pathogenic	<5	I, IV	16786509, 19344236, 25858481, Show More >>	Exon 16	Yes
COL1A2_0123	c.739-2A>T	Intronic	SNV	Splice acceptor	Pathogenic	<5	III	38785520	Intron 15	Yes
COL1A2_0124	c.740G>T	p.Gly247Val	SNV	Missense	Pathogenic	<5	III	19344236, 28116328	Exon 16	No
COL1A2_0125	c.740G>A	p.Gly247Asp	SNV	Missense	Likely Pathogenic	<5		38785520	Exon 16	Yes
COL1A2_0126	c.746T>C	p.Ile249Thr	SNV	Missense	Uncertain Significance	<5		35647203	Exon 16	Yes
COL1A2_0127	c.752C>T	p.Ser251Phe	SNV	Missense	Uncertain Significance	<5	IV	32989910, 39717845	Exon 16	Yes
COL1A2_0128	c.758G>A	p.Gly253Asp	SNV	Missense	Likely Pathogenic	<5	II, III, IV	16786509, 19344236, 30715774, Show More >>	Exon 16	Yes
COL1A2_0129	c.758G>T	p.Gly253Val	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 32989910, 39717845	Exon 16	Yes
COL1A2_0130	c.767G>A	p.Gly256Asp	SNV	Missense	Likely Pathogenic	<5	III	19344236, 38102329	Exon 16	Yes
COL1A2_0131	c.767G>T	p.Gly256Val	SNV	Missense	Pathogenic	<5	IV	16786509, 17233315, 19344236	Exon 16	Yes
COL1A2_0132	c.775G>A	p.Gly259Ser	SNV	Missense	Likely Pathogenic	<5	IV	23869235	Exon 16	Yes
COL1A2_0133	c.776G>A	p.Gly259Asp	SNV	Missense	Pathogenic	<5	I, IV	19344236, 30715774, 31414283	Exon 16	Yes
COL1A2_0134	c.776G>T	p.Gly259Val	SNV	Missense	Likely Pathogenic	<5		19344236, 37715362	Exon 16	Yes
COL1A2_0135	c.792G>A	p.Lys264=	SNV	Silent	Likely Pathogenic	<5	III	31737030	Exon 16	Yes
COL1A2_0136	c.792+2T>C	Intronic	SNV	Splice donor	Pathogenic	<5	IV	11317364, 30715774, 33470886	Intron 16	No
COL1A2_0137	c.792+3A>T	Intronic	SNV	Splice region	Likely Pathogenic	<5	IV	30715774, 31737030	Intron 16	No
COL1A2_0138	c.792+1G>A	Intronic	SNV	Splice donor	Pathogenic	<5	I, III, IV	11317364, 32166892, 36709916	Intron 16	Yes
COL1A2_0139	c.792+2T>G	Intronic	SNV	Splice donor	Likely Pathogenic	<5	I	35154279	Intron 16	No
COL1A2_0140	c.792+2T>A	Intronic	SNV	Splice donor	Pathogenic	<5	III	21667357	Intron 16	No
COL1A2_0141	c.792+1G>T	Intronic	SNV	Splice donor	Likely Pathogenic	<5	IV	11317364	Intron 16	No
COL1A2_0142	c.793G>C	p.Gly265Arg	SNV	Missense	Likely Pathogenic	<5	I	19344236, 25944380, 39717845	Exon 17	Yes
COL1A2_0143	c.793G>A	p.Gly265Ser	SNV	Missense	Likely Pathogenic	<5		31039433	Exon 17	No
COL1A2_0144	c.794G>A	p.Gly265Asp	SNV	Missense	Pathogenic	<5	III	19344236, 30715774, 39717845, Show More >>	Exon 17	Yes
COL1A2_0145	c.796G>A	p.Glu266Lys	SNV	Missense	Uncertain Significance	<5		30467950	Exon 17	No
COL1A2_0146	c.798A>C	p.Glu266Asp	SNV	Missense	Uncertain Significance	<5		31829210	Exon 17	Yes
COL1A2_0147	c.802G>A	p.Gly268Arg	SNV	Missense	Likely Pathogenic	<5	III	19344236, 30715774	Exon 17	Yes
COL1A2_0148	c.803G>T	p.Gly268Val	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 36709916	Exon 17	No
COL1A2_0149	c.808G>A	p.Val270Ile	SNV	Missense	Likely Benign	<5		27056980	Exon 17	Yes
COL1A2_0150	c.811G>C	p.Gly271Arg	SNV	Missense	Pathogenic	<5	IV	19344236, 22753364, 30715774	Exon 17	No
COL1A2_0151	c.811G>T	p.Gly271Cys	SNV	Missense	Likely Pathogenic	<5		19344236, 27335225	Exon 17	No
COL1A2_0152	c.812G>A	p.Gly271Asp	SNV	Missense	Pathogenic	<5	IV	19344236, 27748872, 36709916, Show More >>	Exon 17	Yes
COL1A2_0153	c.820G>T	p.Gly274Cys	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 30715774	Exon 17	No
COL1A2_0154	c.821G>A	p.Gly274Asp	SNV	Missense	Pathogenic	<5	IV	11317364, 19344236, 23054245, Show More >>	Exon 17	Yes
COL1A2_0155	c.825_833dup	p.Ala279_Pro281dup	Duplication	Insertion	Likely Pathogenic	<5	I	19344236, 22753364	Exon 17	No
COL1A2_0156	c.829G>C	p.Gly277Arg	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 30715774	Exon 17	No
COL1A2_0157	c.830G>A	p.Gly277Asp	SNV	Missense	Likely Pathogenic	<5	III	19344236, 32667677	Exon 17	No
COL1A2_0158	c.830G>C	p.Gly277Ala	SNV	Missense	Likely Pathogenic	<5		19344236, 31039433, 36896471	Exon 17	Yes
COL1A2_0159	c.838G>T	p.Gly280Cys	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 27519266	Exon 17	Yes
COL1A2_0160	c.838G>A	p.Gly280Ser	SNV	Missense	Pathogenic	<5	I, IV	17078022, 18311573, 19344236, Show More >>	Exon 17	Yes
COL1A2_0161	c.838G>C	p.Gly280Arg	SNV	Missense	Likely Pathogenic	<5	III	19344236, 30715774	Exon 17	No
COL1A2_0162	c.839G>T	p.Gly280Val	SNV	Missense	Pathogenic	<5	I, III	18798308, 19344236, 21344539	Exon 17	No
COL1A2_0163	c.842_859dup	p.Pro281_Gly286dup	Duplication	Insertion	Likely Pathogenic	<5	I	19344236, 36951356	Exon 17	No
COL1A2_0164	c.847G>C	p.Gly283Arg	SNV	Missense	Likely Pathogenic	<5	II	18996919, 19344236	Exon 17	No
COL1A2_0165	c.848G>T	p.Gly283Val	SNV	Missense	Likely Pathogenic	<5	III	19344236, 25086671	Exon 17	No
COL1A2_0166	c.856G>A	p.Gly286Ser	SNV	Missense	Pathogenic	<5	I, IV	19344236, 27510842, 30715774, Show More >>	Exon 17	Yes
COL1A2_0167	c.856G>C	p.Gly286Arg	SNV	Missense	Pathogenic	<5		19344236, 36140746	Exon 17	No
COL1A2_0168	c.857G>C	p.Gly286Ala	SNV	Missense	Likely Pathogenic	<5	IV	11317364, 19344236	Exon 17	Yes
COL1A2_0169	c.865G>A	p.Gly289Ser	SNV	Missense	Pathogenic	<5	III, IV	19344236, 32166892	Exon 17	No
COL1A2_0170	c.874G>A	p.Gly292Ser	SNV	Missense	Pathogenic	<5	I, III, IV	19344236, 29594386, 29946973, Show More >>	Exon 17	Yes
COL1A2_0171	c.875G>A	p.Gly292Asp	SNV	Missense	Pathogenic	<5	I, III	18311573, 19344236, 24296239, Show More >>	Exon 17	Yes
COL1A2_0172	c.880G>T	p.Val294Phe	SNV	Missense	Likely Benign	<5		28346524	Exon 17	Yes
COL1A2_0173	c.892G>C	p.Gly298Arg	SNV	Missense	Likely Pathogenic	<5	IV	11317364, 19344236	Exon 18	No
COL1A2_0174	c.892G>A	p.Gly298Ser	SNV	Missense	Pathogenic	<5	I	19344236, 31737030, 37810882	Exon 18	Yes
COL1A2_0175	c.892-67A>T	Intronic	SNV	Intronic	Benign	<5			Intron 17	No
COL1A2_0176	c.892G>T	p.Gly298Cys	SNV	Missense	Likely Pathogenic	<5	III	19344236, 27519266	Exon 18	Yes
COL1A2_0177	c.892-13C>G	Intronic	SNV	Intronic	Benign	<5			Intron 17	Yes
COL1A2_0178	c.892-11_900del	Intronic	Deletion	Splice acceptor	Pathogenic	<5	III	22031238	Intron 17	No
COL1A2_0179	c.901G>A	p.Gly301Arg	SNV	Missense	Pathogenic	<5		19344236, 24486247, 36622688	Exon 18	Yes
COL1A2_0180	c.902G>A	p.Gly301Glu	SNV	Missense	Pathogenic	<5		19344236, 29955634	Exon 18	No
COL1A2_0181	c.910G>A	p.Gly304Ser	SNV	Missense	Pathogenic	<5	I	19344236, 30886339, 38374194	Exon 18	Yes
COL1A2_0182	c.920G>A	p.Gly307Asp	SNV	Missense	Likely Pathogenic	<5	III, IV	16882741, 19344236	Exon 18	Yes
COL1A2_0183	c.928G>A	p.Gly310Ser	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 30715774	Exon 18	Yes
COL1A2_0184	c.928G>C	p.Gly310Arg	SNV	Missense	Likely Pathogenic	<5	III	19344236, 38828893	Exon 18	Yes
COL1A2_0185	c.936+46G>A	Intronic	SNV	Intronic	Benign	<5			Intron 18	Yes
COL1A2_0186	c.936+14C>T	Intronic	SNV	Intronic	Benign	<5			Intron 18	Yes
COL1A2_0187	c.937-3C>T	Intronic	SNV	Splice region	Benign	<5			Intron 18	Yes
COL1A2_0188	c.937G>T	p.Gly313Cys	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 25086671	Exon 19	Yes
COL1A2_0189	c.946G>T	p.Gly316Cys	SNV	Missense	Likely Pathogenic	<5		19344236, 38872169	Exon 19	No
COL1A2_0190	c.946G>A	p.Gly316Ser	SNV	Missense	Pathogenic	<5	I, IV	19344236, 22753364, 27748872, Show More >>	Exon 19	Yes
COL1A2_0191	c.955G>A	p.Gly319Arg	SNV	Missense	Pathogenic	<5	I	16786509, 19344236, 32123938	Exon 19	Yes
COL1A2_0192	c.956G>A	p.Gly319Glu	SNV	Missense	Likely Pathogenic	<5		19344236, 38715223	Exon 19	Yes
COL1A2_0193	c.962_979dup	p.Pro321_Pro326dup	Duplication	Insertion	Likely Pathogenic	<5	I	19344236, 30715774	Exon 19	No
COL1A2_0194	c.964G>T	p.Gly322Cys	SNV	Missense	Pathogenic	<5	III, IV	19344236, 36709916	Exon 19	No
COL1A2_0195	c.964G>A	p.Gly322Ser	SNV	Missense	Pathogenic	<5	I, III, IV	15241796, 19344236, 24501682, Show More >>	Exon 19	Yes
COL1A2_0196	c.965G>T	p.Gly322Val	SNV	Missense	Likely Pathogenic	<5	II	19344236, 33470886	Exon 19	No
COL1A2_0197	c.974G>A	p.Gly325Glu	SNV	Missense	Likely Pathogenic	<5	IV	16705691, 19344236	Exon 19	No
COL1A2_0198	c.982G>A	p.Gly328Ser	SNV	Missense	Pathogenic	<5	I, III, IV	10807697, 11359465, 16705691, Show More >>	Exon 19	Yes
COL1A2_0199	c.982G>C	p.Gly328Arg	SNV	Missense	Likely Pathogenic	<5	II	19344236, 36709916	Exon 19	No
COL1A2_0200	c.982G>T	p.Gly328Cys	SNV	Missense	Pathogenic	<5	III, IV	11359465, 17078022, 19344236, Show More >>	Exon 19	Yes
COL1A2_0201	c.983G>A	p.Gly328Asp	SNV	Missense	Pathogenic	<5	II, III	17078022, 19344236, 36068917	Exon 19	Yes
COL1A2_0202	c.983G>T	p.Gly328Val	SNV	Missense	Likely Pathogenic	<5	II	19344236, 24863959	Exon 19	Yes
COL1A2_0203	c.992G>A	p.Gly331Asp	SNV	Missense	Pathogenic	<5	I, III, IV	10408781, 10807697, 19344236, Show More >>	Exon 19	Yes
COL1A2_0204	c.1000G>A	p.Gly334Ser	SNV	Missense	Pathogenic	<5	I, IV	16882741, 17078022, 19344236, Show More >>	Exon 19	No
COL1A2_0205	c.1009G>A	p.Gly337Ser	SNV	Missense	Pathogenic	<5	I, II, III, IV	10807697, 10942108, 16882741, Show More >>	Exon 19	Yes
COL1A2_0206	c.1009G>C	p.Gly337Arg	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 28953610, 36709916	Exon 19	No
COL1A2_0207	c.1009G>T	p.Gly337Cys	SNV	Missense	Pathogenic	<5	III	10408781, 10807697, 11359465, Show More >>	Exon 19	Yes
COL1A2_0208	c.1009_1010inv	p.Gly337Pro	Inversion	Missense	Likely Pathogenic	<5	III	11317364, 19344236, 28953610	Exon 19	No
COL1A2_0209	c.1010G>A	p.Gly337Asp	SNV	Missense	Pathogenic	<5	III	19344236, 33777089, 36709916	Exon 19	No
COL1A2_0210	c.1015A>C	p.Thr339Pro	SNV	Missense	Uncertain Significance	<5		37371859	Exon 19	No
COL1A2_0211	c.1018G>A	p.Gly340Ser	SNV	Missense	Pathogenic	<5	III	18487610, 18798308, 19344236, Show More >>	Exon 19	Yes
COL1A2_0212	c.1019G>A	p.Gly340Asp	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 33470886	Exon 19	No
COL1A2_0213	c.1022_1033del	p.Ala341_Leu344del	Deletion	Deletion	Likely Pathogenic	<5		19344236, 31319225	Exon 19	No
COL1A2_0214	c.1027G>A	p.Gly343Arg	SNV	Missense	Likely Pathogenic	<5		19344236, 30886339	Exon 19	No
COL1A2_0215	c.1028G>A	p.Gly343Glu	SNV	Missense	Likely Pathogenic	<5	III	19344236, 38102329	Exon 19	Yes
COL1A2_0216	c.1035_1035+2del	Intronic	Deletion	Splice donor	Likely Pathogenic	<5	II, III	21239989, 22795120, 25086671, Show More >>	Exon 19	No
COL1A2_0217	c.1035+1_1035+2del	Intronic	Deletion	Splice donor	Pathogenic	<5	III	16705691	Intron 19	No
COL1A2_0218	c.1036-1G>C	Intronic	SNV	Splice acceptor	Likely Pathogenic	<5		8005592	Intron 19	No
COL1A2_0219	c.1036-9G>T	Intronic	SNV	Intronic	Uncertain Significance	<5	IV	30715774, 31737030	Intron 19	No
COL1A2_0220	c.1036G>A	p.Gly346Ser	SNV	Missense	Likely Pathogenic	<5		19344236, 28116328	Exon 20	Yes
COL1A2_0221	c.1036-12A>G	Intronic	SNV	Intronic	Benign	<5			Intron 19	Yes
COL1A2_0222	c.1036-2A>C	Intronic	SNV	Splice acceptor	Pathogenic	<5	III, IV	24616597, 30430037, 33939306	Intron 19	No
COL1A2_0223	c.1045G>T	p.Gly349Cys	SNV	Missense	Pathogenic	<5	III, IV	10807697, 19344236, 1990009, Show More >>	Exon 20	Yes
COL1A2_0224	c.1045G>A	p.Gly349Ser	SNV	Missense	Pathogenic	<5	I, IV	19344236, 28528406, 39126373	Exon 20	Yes
COL1A2_0225	c.1048C>T	p.Pro350Ser	SNV	Missense	Uncertain Significance	<5		26402641	Exon 20	Yes
COL1A2_0226	c.1055G>T	p.Gly352Val	SNV	Missense	Likely Pathogenic	<5	III	19344236, 36709916	Exon 20	No
COL1A2_0227	c.1072G>A	p.Gly358Ser	SNV	Missense	Pathogenic	<5	I, II, III, IV	16705691, 16882741, 19344236, Show More >>	Exon 20	Yes
COL1A2_0228	c.1072G>T	p.Gly358Cys	SNV	Missense	Pathogenic	<5	III	10807697, 19344236, 9240878	Exon 20	No
COL1A2_0229	c.1073G>A	p.Gly358Asp	SNV	Missense	Pathogenic	<5	III	19344236, 28116328	Exon 20	No
COL1A2_0230	c.1076A>G	p.Asn359Ser	SNV	Missense	Uncertain Significance	<5		26402641	Exon 20	Yes
COL1A2_0231	c.1077C>A	p.Asn359Lys	SNV	Missense	Uncertain Significance	<5		29947050	Exon 20	No
COL1A2_0232	c.1081G>A	p.Gly361Ser	SNV	Missense	Pathogenic	<5	I, III	19344236, 28431466, 38828893	Exon 20	Yes
COL1A2_0233	c.1089+6T>G	Intronic	SNV	Splice region	Likely Pathogenic	<5	I	30715774, 31737030	Intron 20	No
COL1A2_0234	c.1090G>A	p.Gly364Ser	SNV	Missense	Pathogenic	<5	III, IV	11317364, 19344236, 19929435, Show More >>	Exon 21	No
COL1A2_0235	c.1090G>T	p.Gly364Cys	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 25086671	Exon 21	No
COL1A2_0236	c.1099G>T	p.Gly367Trp	SNV	Missense	Likely Pathogenic	<5	III	10807697, 19344236, 35748117	Exon 21	Yes
COL1A2_0237	c.1100G>A	p.Gly367Glu	SNV	Missense	Pathogenic	<5	III	19344236, 24668929, 32123938	Exon 21	No
COL1A2_0238	c.1108G>A	p.Gly370Ser	SNV	Missense	Pathogenic	<5	III	10807697, 19344236, 9240878, Show More >>	Exon 21	Yes
COL1A2_0239	c.1109G>C	p.Gly370Ala	SNV	Missense	Likely Pathogenic	<5	IV	15241796, 17078022, 19344236	Exon 21	No
COL1A2_0240	c.1117G>T	p.Gly373Cys	SNV	Missense	Likely Pathogenic	<5	III	30715774	Exon 21	No
COL1A2_0241	c.1117G>C	p.Gly373Arg	SNV	Missense	Likely Pathogenic	<5		19344236, 28116328	Exon 21	No
COL1A2_0242	c.1118G>C	p.Gly373Ala	SNV	Missense	Likely Pathogenic	<5		19344236, 37875969	Exon 21	No
COL1A2_0243	c.1127G>A	p.Gly376Asp	SNV	Missense	Pathogenic	<5	II, III, IV	10807697, 19344236, 21239989, Show More >>	Exon 21	No
COL1A2_0244	c.1127G>T	p.Gly376Val	SNV	Missense	Likely Pathogenic	<5	IV	17078022, 19344236	Exon 21	Yes
COL1A2_0245	c.1135G>A	p.Gly379Arg	SNV	Missense	Pathogenic	<5	III, IV	19344236, 25742658, 30715774, Show More >>	Exon 21	Yes
COL1A2_0246	c.1136G>C	p.Gly379Ala	SNV	Missense	Likely Pathogenic	<5		19344236, 36896471	Exon 21	Yes
COL1A2_0247	c.1144G>A	p.Gly382Ser	SNV	Missense	Likely Pathogenic	<5	I	19344236, 30715774	Exon 21	Yes
COL1A2_0248	c.1153G>C	p.Gly385Arg	SNV	Missense	Pathogenic	<5		19344236, 22753364, 36951356	Exon 21	Yes
COL1A2_0249	c.1153G>A	p.Gly385Arg	SNV	Missense	Pathogenic	<5		19344236, 22753364, 36951356	Exon 21	Yes
COL1A2_0250	c.1154G>A	p.Gly385Glu	SNV	Missense	Likely Pathogenic	<5	II, III	17078022, 19344236	Exon 21	Yes
COL1A2_0251	c.1159G>C	p.Ala387Pro	SNV	Missense	Uncertain Significance	<5		27011056	Exon 21	Yes
COL1A2_0252	c.1162G>C	p.Gly388Arg	SNV	Missense	Likely Pathogenic	<5	III	19344236, 27510842, 39717845	Exon 21	Yes
COL1A2_0253	c.1163G>T	p.Gly388Val	SNV	Missense	Pathogenic	<5	II, III	17078022, 19344236	Exon 21	Yes
COL1A2_0254	c.1171G>C	p.Gly391Arg	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 33470886	Exon 21	Yes
COL1A2_0255	c.1171G>A	p.Gly391Ser	SNV	Missense	Pathogenic	<5	IV	19344236, 23227268, 24028587, Show More >>	Exon 21	Yes
COL1A2_0256	c.1171G>T	p.Gly391Cys	SNV	Missense	Likely Pathogenic	<5	IV	11317364, 19344236	Exon 21	Yes
COL1A2_0257	c.1172G>T	p.Gly391Val	SNV	Missense	Likely Pathogenic	<5	III	19344236, 35647203	Exon 21	No
COL1A2_0258	c.1190G>T	p.Gly397Val	SNV	Missense	Pathogenic	<5	III	19344236, 31363794, 34091931	Exon 21	No
COL1A2_0259	c.1190G>A	p.Gly397Glu	SNV	Missense	Likely Pathogenic	<5	II	18996919, 19344236	Exon 21	No
COL1A2_0260	c.1197+5G>C	Intronic	SNV	Splice region	Likely Pathogenic	<5	IV	17078022, 37352859	Intron 21	Yes
COL1A2_0261	c.1197+2_1197+40del	Intronic	Deletion	Splice donor	Likely Pathogenic	<5	IV	8339544	Intron 21	No
COL1A2_0262	c.1197+5G>A	Intronic	SNV	Splice region	Pathogenic	<5	I, IV	15077201, 28498836, 30715774, Show More >>	Intron 21	Yes
COL1A2_0263	c.1199G>C	p.Gly400Ala	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 27090748, 31039433	Exon 22	No
COL1A2_0264	c.1199G>A	p.Gly400Asp	SNV	Missense	Likely Pathogenic	<5	III	19344236, 29807018	Exon 22	Yes
COL1A2_0265	c.1207G>T	p.Gly403Cys	SNV	Missense	Pathogenic	<5	III	16882741, 19344236, 29543922, Show More >>	Exon 22	Yes
COL1A2_0266	c.1207G>C	p.Gly403Arg	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 31414283	Exon 22	Yes
COL1A2_0267	c.1208G>A	p.Gly403Asp	SNV	Missense	Pathogenic	<5	II	19344236, 30629328	Exon 22	Yes
COL1A2_0268	c.1216G>A	p.Gly406Ser	SNV	Missense	Likely Pathogenic	<5	IV	15241796, 19344236	Exon 22	Yes
COL1A2_0269	c.1220T>C	p.Leu407Pro	SNV	Missense	Uncertain Significance	<5	I	31447884	Exon 22	No
COL1A2_0270	c.1226G>T	p.Gly409Val	SNV	Missense	Pathogenic	<5		10627137, 17233315, 19344236, Show More >>	Exon 22	No
COL1A2_0271	c.1226_1227delinsTT	p.Gly409Val	Delins	Missense	Pathogenic	<5		10627137, 17233315, 19344236, Show More >>	Exon 22	No
COL1A2_0272	c.1252G>A	p.Gly418Ser	SNV	Missense	Pathogenic	<5	III	19344236, 35044492, 9272740	Exon 23	Yes
COL1A2_0273	c.1252-7del	Intronic	Deletion	Splice region	Benign	<5			Intron 22	No
COL1A2_0274	c.1261G>A	p.Gly421Ser	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 30715774	Exon 23	No
COL1A2_0275	c.1268G>A	p.Arg423His	SNV	Missense	Likely Pathogenic	<5	III, IV	25944380, 30715774, 39717845	Exon 23	Yes
COL1A2_0276	c.1270G>A	p.Gly424Ser	SNV	Missense	Likely Pathogenic	<5	IV	17078022, 19344236	Exon 23	Yes
COL1A2_0277	c.1271G>T	p.Gly424Val	SNV	Missense	Likely Pathogenic	<5	II	19344236, 24863959	Exon 23	No
COL1A2_0278	c.1279G>A	p.Gly427Ser	SNV	Missense	Pathogenic	<5	III	16882741, 18798308, 19344236, Show More >>	Exon 23	Yes
COL1A2_0279	c.1285G>C	p.Ala429Pro	SNV	Missense	Uncertain Significance	<5		29499418	Exon 23	Yes
COL1A2_0280	c.1298G>A	p.Gly433Glu	SNV	Missense	Pathogenic	<5	II	11286507, 11317364, 19344236, Show More >>	Exon 23	No
COL1A2_0281	c.?	p.Gly436Tyr		Missense	Uncertain Significance	<5		37795942	Exon 23	Unknown
COL1A2_0282	c.1307G>C	p.Gly436Ala	SNV	Missense	Likely Pathogenic	<5		19344236, 37795942	Exon 23	No
COL1A2_0283	c.1310_1312dup	p.Asp437dup	Duplication	Insertion	Likely Pathogenic	<5		19344236, 25742658	Exon 23	No
COL1A2_0284	c.1315G>C	p.Gly439Arg	SNV	Missense	Likely Pathogenic	<5		24140640	Exon 23	No
COL1A2_0285	c.1316G>A	p.Gly439Asp	SNV	Missense	Pathogenic	<5		19344236, 24140640	Exon 23	Yes
COL1A2_0286	c.1349_1350+2del	Intronic	Deletion	Splice donor	Pathogenic	<5		36896471	Exon 23	Yes
COL1A2_0287	c.1350+11A>T	Intronic	SNV	Intronic	Benign	<5		32461654	Intron 23	Yes
COL1A2_0288	c.1352G>A	p.Gly451Asp	SNV	Missense	Pathogenic	<5		19344236, 34974531	Exon 24	Yes
COL1A2_0289	c.1360G>T	p.Gly454Cys	SNV	Missense	Pathogenic	<5	II	18996919, 19344236, 21239989, Show More >>	Exon 24	Yes
COL1A2_0290	c.1361G>T	p.Gly454Val	SNV	Missense	Pathogenic	<5	II	19344236, 26147564	Exon 24	Yes
COL1A2_0291	c.1361G>C	p.Gly454Ala	SNV	Missense	Likely Pathogenic	<5		19344236, 30886339	Exon 24	No
COL1A2_0292	c.1369_1370delinsCT	p.Gly457Leu	Delins	Missense	Likely Pathogenic	<5	II	18996919, 19344236	Exon 24	No
COL1A2_0293	c.1378G>A	p.Gly460Ser	SNV	Missense	Pathogenic	<5	II, III, IV	15241796, 16882741, 19344236, Show More >>	Exon 24	Yes
COL1A2_0294	c.1380_1397del	p.Ala462_Pro467del	Deletion	Deletion	Likely Pathogenic	<5	II	18996919, 19344236	Exon 24	No
COL1A2_0295	c.1404+1G>A	Intronic	SNV	Splice donor	Pathogenic	<5		15077201, 16816023, 28306225, Show More >>	Intron 24	Yes
COL1A2_0296	c.1404+1G>C	Intronic	SNV	Splice donor	Pathogenic	<5		15077201, 16816023, 30821104	Intron 24	Yes
COL1A2_0297	c.1406G>T	p.Gly469Val	SNV	Missense	Likely Pathogenic	<5	II	19344236, 24863959	Exon 25	No
COL1A2_0298	c.1406G>C	p.Gly469Ala	SNV	Missense	Pathogenic	<5	IV	11836364, 19344236, 28116328, Show More >>	Exon 25	Yes
COL1A2_0299	c.1412C>T	p.Pro471Leu	SNV	Missense	Uncertain Significance	<5		30283887	Exon 25	Yes
COL1A2_0300	c.1423G>A	p.Gly475Ser	SNV	Missense	Likely Pathogenic	<5		19344236, 31039433	Exon 25	Yes
COL1A2_0301	c.1432G>A	p.Gly478Ser	SNV	Missense	Likely Pathogenic	<5		19344236	Exon 25	No
COL1A2_0302	c.1433G>A	p.Gly478Asp	SNV	Missense	Pathogenic	<5	III	19344236, 30405713, 33942288, Show More >>	Exon 25	No
COL1A2_0303	c.1442G>C	p.Gly481Ala	SNV	Missense	Likely Pathogenic	<5		19344236	Exon 25	No
COL1A2_0304	c.1446A>C	p.Pro482=	SNV	Silent	Benign	<5			Exon 25	Yes
COL1A2_0305	c.1451G>T	p.Gly484Val	SNV	Missense	Likely Pathogenic	<5	III, IV	19344236, 9240878	Exon 25	Yes
COL1A2_0306	c.1451G>C	p.Gly484Ala	SNV	Missense	Likely Pathogenic	<5		19344236	Exon 25	No
COL1A2_0307	c.1451G>A	p.Gly484Glu	SNV	Missense	Pathogenic	<5	I, IV	19344236, 29636545, 32166892, Show More >>	Exon 25	No
COL1A2_0308	c.1459G>A	p.Gly487Arg	SNV	Missense	Pathogenic	<5	III	19344236, 24501682, 38102329	Exon 25	Yes
COL1A2_0309	c.1460G>A	p.Gly487Glu	SNV	Missense	Likely Pathogenic	<5		19344236, 30886339	Exon 25	No
COL1A2_0310	c.1478G>T	p.Gly493Val	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 24668929	Exon 25	Yes
COL1A2_0311	c.1478G>A	p.Gly493Glu	SNV	Missense	Likely Pathogenic	<5	IV	17078022, 19344236	Exon 25	Yes
COL1A2_0312	c.1480_1488dup	p.Phe494_Gly496dup	Duplication	Insertion	Likely Pathogenic	<5	IV	19344236, 30715774	Exon 25	No
COL1A2_0313	c.1486G>A	p.Gly496Arg	SNV	Missense	Likely Pathogenic	<5		19344236, 33939306	Exon 25	No
COL1A2_0314	c.1487G>C	p.Gly496Ala	SNV	Missense	Likely Pathogenic	<5		19344236, 26235824, 31039433, Show More >>	Exon 25	No
COL1A2_0315	c.1496G>A	p.Gly499Asp	SNV	Missense	Pathogenic	<5	II	19344236, 32360156	Exon 25	No
COL1A2_0316	c.1496G>T	p.Gly499Val	SNV	Missense	Likely Pathogenic	<5	II	17078022, 19344236, 32360156	Exon 25	Yes
COL1A2_0317	c.1503+12_1503+14del	Intronic	Deletion	Intronic	Uncertain Significance	<5	IV	31363794	Intron 25	No
COL1A2_0318	c.1522G>A	p.Gly508Ser	SNV	Missense	Likely Pathogenic	<5		19344236, 31039433, 39033325	Exon 26	Yes
COL1A2_0319	c.1523G>A	p.Gly508Asp	SNV	Missense	Likely Pathogenic	<5	III	17078022, 19344236, 39033325	Exon 26	No
COL1A2_0320	c.1523G>C	p.Gly508Ala	SNV	Missense	Likely Pathogenic	<5		19344236, 28378289, 38536562	Exon 26	No
COL1A2_0321	c.1523G>T	p.Gly508Val	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 30715774	Exon 26	Yes
COL1A2_0322	c.1531G>T	p.Gly511Cys	SNV	Missense	Pathogenic	<5		19344236, 32071780, 39717845	Exon 26	Yes
COL1A2_0323	c.1532G>A	p.Gly511Asp	SNV	Missense	Pathogenic	<5	II	10027910, 15172002, 16882741, Show More >>	Exon 26	Yes
COL1A2_0324	c.1541G>T	p.Gly514Val	SNV	Missense	Likely Pathogenic	<5		19344236, 30886339	Exon 26	No
COL1A2_0325	c.1541G>C	p.Gly514Ala	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 35154279	Exon 26	Yes
COL1A2_0326	c.1549G>A	p.Gly517Ser	SNV	Missense	Pathogenic	<5	III, IV	19344236, 24668929, 36951356	Exon 26	Yes
COL1A2_0327	c.1549G>C	p.Gly517Arg	SNV	Missense	Likely Pathogenic	<5	III	10027910, 19344236, 7520724	Exon 26	No
COL1A2_0328	c.1557+3A>G	Intronic	SNV	Splice region	Likely Pathogenic	<5	I, III, IV	16317551, 21667357, 22795107, Show More >>	Intron 26	Yes
COL1A2_0329	c.1576G>A	p.Gly526Arg	SNV	Missense	Pathogenic	<5	IV	10027910, 16882741, 18487610, Show More >>	Exon 27	Yes
COL1A2_0330	c.1577G>A	p.Gly526Glu	SNV	Missense	Pathogenic	<5	II, III	11317364, 18996919, 19344236	Exon 27	No
COL1A2_0331	c.1583A>G	p.Asn528Ser	SNV	Missense	Uncertain Significance	<5		18272325	Exon 27	Yes
COL1A2_0332	c.1586G>A	p.Gly529Asp	SNV	Missense	Pathogenic	<5	I	19344236, 28725987, 33939306	Exon 27	Yes
COL1A2_0333	c.1595G>A	p.Gly532Glu	SNV	Missense	Pathogenic	<5	IV	11317364, 19344236, 28378289, Show More >>	Exon 27	No
COL1A2_0334	c.1604G>A	p.Gly535Glu	SNV	Missense	Pathogenic	<5		19344236, 34091931	Exon 27	No
COL1A2_0335	c.1612G>A	p.Gly538Ser	SNV	Missense	Pathogenic	<5	I, III, IV	19344236, 31737030, 36951356	Exon 28	Yes
COL1A2_0336	c.1612-2A>G	Intronic	SNV	Splice acceptor	Likely Pathogenic	<5	II	16141195, 2839839	Intron 27	Yes
COL1A2_0337	c.1612G>T	p.Gly538Cys	SNV	Missense	Likely Pathogenic	<5	II	19344236, 37829592	Exon 28	No
COL1A2_0338	c.1613G>A	p.Gly538Asp	SNV	Missense	Likely Pathogenic	<5	III, IV	19344236, 32770541	Exon 28	Yes
COL1A2_0339	c.1613G>T	p.Gly538Val	SNV	Missense	Likely Pathogenic	<5	III	19344236, 32667677	Exon 28	No
COL1A2_0340	c.?	p.Gly542Cys		Missense	Likely Pathogenic	<5	II	19344236, 9203215	Exon 28	Unknown
COL1A2_0341	c.1630G>A	p.Gly544Ser	SNV	Missense	Pathogenic	<5	IV	19344236, 27519266, 32166892	Exon 28	Yes
COL1A2_0342	c.1630G>T	p.Gly544Cys	SNV	Missense	Likely Pathogenic	<5	III	19344236, 28810924	Exon 28	Yes
COL1A2_0343	c.1631G>T	p.Gly544Val	SNV	Missense	Likely Pathogenic	<5	II	19344236, 21239989	Exon 28	No
COL1A2_0344	c.1639G>C	p.Gly547Arg	SNV	Missense	Likely Pathogenic	<5	II	10027910, 19344236, 8456808	Exon 28	No
COL1A2_0345	c.1642C>G	p.Pro548Ala	SNV	Missense	Uncertain Significance	<5		21884818	Exon 28	No
COL1A2_0346	c.1645C>G	p.Pro549Ala	SNV	Missense	Benign	<5			Exon 28	Yes
COL1A2_0347	c.1648G>A	p.Gly550Ser	SNV	Missense	Likely Pathogenic	<5		19344236, 27748872	Exon 28	Yes
COL1A2_0348	c.1649G>C	p.Gly550Ala	SNV	Missense	Likely Pathogenic	<5		19344236, 38475860	Exon 28	No
COL1A2_0349	c.1657G>T	p.Gly553Cys	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 36951356	Exon 28	Yes
COL1A2_0350	c.1658G>T	p.Gly553Val	SNV	Missense	Likely Pathogenic	<5	III	19344236, 24668929	Exon 28	Yes
COL1A2_0351	c.1665+15A>G	Intronic	SNV	Intronic	Benign	<5			Intron 28	Yes
COL1A2_0352	c.1666G>A	p.Gly556Ser	SNV	Missense	Likely Pathogenic	<5		19344236, 35252483	Exon 29	Yes
COL1A2_0353	c.1666G>T	p.Gly556Cys	SNV	Missense	Pathogenic	<5	IV	19344236, 26627451, 27748872	Exon 29	Yes
COL1A2_0354	c.1666-41G>A	Intronic	SNV	Intronic	Benign	<5			Intron 28	Yes
COL1A2_0355	c.1667G>T	p.Gly556Val	SNV	Missense	Likely Pathogenic	<5	III	19344236, 34306033	Exon 29	Yes
COL1A2_0356	c.1675G>A	p.Gly559Ser	SNV	Missense	Likely Pathogenic	<5	III	19344236, 36709916	Exon 29	Yes
COL1A2_0357	c.1684G>T	p.Gly562Cys	SNV	Missense	Likely Pathogenic	<5	II	10027910, 11113887, 1301191, Show More >>	Exon 29	No
COL1A2_0358	c.1684G>A	p.Gly562Ser	SNV	Missense	Pathogenic	<5	IV	19344236, 37293821	Exon 29	Yes
COL1A2_0359	c.1685G>T	p.Gly562Val	SNV	Missense	Pathogenic	<5	II	18996919, 19344236, 33942572	Exon 29	No
COL1A2_0360	c.1685G>A	p.Gly562Asp	SNV	Missense	Likely Pathogenic	<5		19344236, 30886339	Exon 29	Yes
COL1A2_0361	c.1690G>A	p.Ala564Thr	SNV	Missense	Uncertain Significance	<5		18272325	Exon 29	Yes
COL1A2_0362	c.1693G>A	p.Gly565Ser	SNV	Missense	Likely Pathogenic	<5		19344236	Exon 29	Yes
COL1A2_0363	c.1694G>C	p.Gly565Ala	SNV	Missense	Likely Pathogenic	<5	I	19344236, 35073670	Exon 29	Yes
COL1A2_0364	c.1701_1719+6del	Intronic	Deletion	Splice donor	Pathogenic	<5	II	18996919	Exon 29	No
COL1A2_0365	c.1702G>A	p.Gly568Ser	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 36709916	Exon 29	Yes
COL1A2_0366	c.1711G>A	p.Gly571Arg	SNV	Missense	Pathogenic	<5	III, IV	11317364, 19344236, 20087402	Exon 29	No
COL1A2_0367	c.1719+3G>T	Intronic	SNV	Splice region	Uncertain Significance	<5	IV	37293821	Intron 29	No
COL1A2_0368	c.1720G>A	p.Gly574Ser	SNV	Missense	Likely Pathogenic	<5	II	19344236, 22570641	Exon 30	No
COL1A2_0369	c.1720-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	<5	II	18996919	Intron 29	No
COL1A2_0370	c.1727A>G	p.His576Arg	SNV	Missense	Uncertain Significance	<5	III	25944380	Exon 30	Yes
COL1A2_0371	c.1729G>A	p.Gly577Ser	SNV	Missense	Likely Pathogenic	<5	III	19344236, 27519266	Exon 30	No
COL1A2_0372	c.1730G>A	p.Gly577Asp	SNV	Missense	Likely Pathogenic	<5		19344236, 30886339	Exon 30	No
COL1A2_0373	c.1739G>T	p.Gly580Val	SNV	Missense	Pathogenic	<5	II	19344236, 35627109	Exon 30	No
COL1A2_0374	c.1748G>C	p.Gly583Ala	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 28725987	Exon 30	Yes
COL1A2_0375	c.1755_1756insGCT	p.Ala585dup	Duplication	Insertion	Likely Pathogenic	<5		19344236, 33939306	Exon 30	No
COL1A2_0376	c.1756G>A	p.Gly586Ser	SNV	Missense	Likely Pathogenic	<5	III	19344236, 25086671	Exon 30	No
COL1A2_0377	c.1764+3_1764+6del	Intronic	Deletion	Splice region	Uncertain Significance	<5		33777089	Intron 30	No
COL1A2_0378	c.1764+6T>C	Intronic	SNV	Splice region	Uncertain Significance	<5		27380894	Intron 30	Yes
COL1A2_0379	c.1764+162G>A	Intronic	SNV	Intronic	Uncertain Significance	<5		21341209, 21863547	Intron 30	No
COL1A2_0380	c.?	p.Gly589Ser		Missense	Likely Pathogenic	<5		19344236	Exon 31	Unknown
COL1A2_0381	c.1774G>A	p.Gly592Ser	SNV	Missense	Pathogenic	<5	II	11359465, 12870654, 17078022, Show More >>	Exon 31	Yes
COL1A2_0382	c.1783G>A	p.Gly595Ser	SNV	Missense	Likely Pathogenic	<5	IV	15241796, 17078022, 19344236	Exon 31	No
COL1A2_0383	c.1793G>T	p.Gly598Val	SNV	Missense	Likely Pathogenic	<5	III, IV	17078022, 19344236, 39033325	Exon 31	Yes
COL1A2_0384	c.1795G>A	p.Ala599Thr	SNV	Missense	Uncertain Significance	<5		36619171	Exon 31	No
COL1A2_0385	c.1801G>A	p.Gly601Ser	SNV	Missense	Pathogenic	<5	I, III, IV	11317364, 16705691, 16882741, Show More >>	Exon 31	Yes
COL1A2_0386	c.1802G>T	p.Gly601Val	SNV	Missense	Likely Pathogenic	<5		19344236, 33939306	Exon 31	No
COL1A2_0387	c.1808C>T	p.Thr603Ile	SNV	Missense	Uncertain Significance	<5		32214361	Exon 31	No
COL1A2_0388	c.1826G>A	p.Arg609Gln	SNV	Missense	Uncertain Significance	<5	I	35052464	Exon 31	Yes
COL1A2_0389	c.1828G>A	p.Gly610Ser	SNV	Missense	Likely Pathogenic	<5		19344236, 37895885	Exon 31	Yes
COL1A2_0390	c.1829G>T	p.Gly610Val	SNV	Missense	Pathogenic	<5	II, III	19344236, 31428121	Exon 31	No
COL1A2_0391	c.1846G>A	p.Gly616Arg	SNV	Missense	Likely Pathogenic	<5		19344236	Exon 31	Yes
COL1A2_0392	c.1856G>A	p.Gly619Glu	SNV	Missense	Likely Pathogenic	<5	II	19344236, 37401248	Exon 31	No
COL1A2_0393	c.1863G>A	p.Lys621=	SNV	Silent	Likely Pathogenic	<5	II	27761249	Exon 31	Yes
COL1A2_0394	c.1874G>C	p.Gly625Ala	SNV	Missense	Likely Pathogenic	<5		19344236, 31039433	Exon 32	Yes
COL1A2_0395	c.1874G>A	p.Gly625Asp	SNV	Missense	Pathogenic	<5	II	16879195, 19344236, 24863959	Exon 32	No
COL1A2_0396	c.1878G>T	p.Val626=	SNV	Silent	Benign	<5			Exon 32	Yes
COL1A2_0397	c.1882G>C	p.Gly628Arg	SNV	Missense	Likely Pathogenic	<5	IV	11317364, 19344236	Exon 32	No
COL1A2_0398	c.1892G>A	p.Gly631Asp	SNV	Missense	Likely Pathogenic	<5	III	19344236, 34107839	Exon 32	Yes
COL1A2_0399	c.1892G>T	p.Gly631Val	SNV	Missense	Pathogenic	<5	IV	19344236, 38102329	Exon 32	Yes
COL1A2_0400	c.1897_1902dup	p.Ala633_Gly634dup	Duplication	Insertion	Likely Pathogenic	<5	I	19344236, 35052464	Exon 32	No
COL1A2_0401	c.1900G>C	p.Gly634Arg	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 30715774	Exon 32	No
COL1A2_0402	c.1901G>A	p.Gly634Asp	SNV	Missense	Likely Pathogenic	<5	I	19344236, 36900016	Exon 32	No
COL1A2_0403	c.1901G>T	p.Gly634Val	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 8401517	Exon 32	Yes
COL1A2_0404	c.1910G>A	p.Gly637Asp	SNV	Missense	Likely Pathogenic	<5		19344236, 2010058	Exon 32	No
COL1A2_0405	c.1913C>T	p.Pro638Leu	SNV	Missense	Uncertain Significance	<5		30715774	Exon 32	No
COL1A2_0406	c.1927G>A	p.Gly643Arg	SNV	Missense	Pathogenic	<5	IV	19344236, 35616356	Exon 32	Yes
COL1A2_0407	c.1928G>A	p.Gly643Glu	SNV	Missense	Pathogenic	<5		19344236, 36352425	Exon 32	No
COL1A2_0408	c.1937G>T	p.Gly646Val	SNV	Missense	Pathogenic	<5	III	19344236, 25944380, 39717845	Exon 32	Yes
COL1A2_0409	c.1946G>A	p.Gly649Asp	SNV	Missense	Pathogenic	<5	IV	19344236, 30886339, 36709916	Exon 32	No
COL1A2_0410	c.1963G>A	p.Gly655Arg	SNV	Missense	Likely Pathogenic	<5		19344236, 35822426	Exon 32	Yes
COL1A2_0411	c.1964G>A	p.Gly655Glu	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 30715774	Exon 32	Yes
COL1A2_0412	c.1964G>T	p.Gly655Val	SNV	Missense	Pathogenic	<5	IV	19344236, 27519266, 32166892	Exon 32	No
COL1A2_0413	c.1971+1G>C	Intronic	SNV	Splice donor	Pathogenic	<5	III	35611473	Intron 32	No
COL1A2_0414	c.1971+2_1971+33del	Intronic	Deletion	Splice donor	Pathogenic	<5	II	21239989	Intron 32	No
COL1A2_0415	c.1972G>A	p.Gly658Ser	SNV	Missense	Pathogenic	<5	III	19344236, 29807018, 38828893	Exon 33	No
COL1A2_0416	c.1976A>G	p.Glu659Gly	SNV	Missense	Uncertain Significance	<5		34150014	Exon 33	Yes
COL1A2_0417	c.1981G>T	p.Gly661Cys	SNV	Missense	Pathogenic	<5	I, IV	19344236, 21667357, 30715774, Show More >>	Exon 33	Yes
COL1A2_0418	c.1981G>A	p.Gly661Ser	SNV	Missense	Likely Pathogenic	<5	III	19344236, 27519266	Exon 33	Yes
COL1A2_0419	c.1982G>A	p.Gly661Asp	SNV	Missense	Likely Pathogenic	<5		19344236, 30886339	Exon 33	No
COL1A2_0420	c.1991G>T	p.Gly664Val	SNV	Missense	Likely Pathogenic	<5		19344236, 29150909	Exon 33	Yes
COL1A2_0421	c.1991G>A	p.Gly664Asp	SNV	Missense	Pathogenic	<5	III, IV	11317364, 19344236, 20087402	Exon 33	Yes
COL1A2_0422	c.1997T>C	p.Ile666Thr	SNV	Missense	Uncertain Significance	<5		25742658, 34958866	Exon 33	No
COL1A2_0423	c.1999G>A	p.Gly667Ser	SNV	Missense	Likely Pathogenic	<5		19344236, 37715362	Exon 33	No
COL1A2_0424	c.2008G>C	p.Gly670Arg	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 36709916	Exon 33	No
COL1A2_0425	c.2009G>A	p.Gly670Asp	SNV	Missense	Likely Pathogenic	<5	II	1385413, 19344236, 2010058	Exon 33	No
COL1A2_0426	c.2009del	p.Gly670Alafs*12	Deletion	Frameshift	Pathogenic	<5		19344236, 36896471	Exon 33	No
COL1A2_0427	c.2010_2013delinsG	p.Arg671del	Delins	Protein altering	Likely Pathogenic	<5	III	19344236, 36951356	Exon 33	No
COL1A2_0428	c.2018G>A	p.Gly673Asp	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 26627451	Exon 33	Yes
COL1A2_0429	c.2024G>A	p.Arg675His	SNV	Missense	Uncertain Significance	<5		39169360	Exon 33	Yes
COL1A2_0430	c.2025+5G>A	Intronic	SNV	Splice region	Likely Pathogenic	<5	II	1711048	Intron 33	Yes
COL1A2_0431	c.2025+4A>G	Intronic	SNV	Splice region	Likely Pathogenic	<5	III, IV	30715774, 8456807	Intron 33	Yes
COL1A2_0432	c.2026G>C	p.Gly676Arg	SNV	Missense	Likely Pathogenic	<5	I	11317364, 19344236	Exon 34	No
COL1A2_0433	c.2026-1_2042dup	Intronic	Duplication	Splice acceptor	Uncertain Significance	<5	III, IV	30715774, 31737030, 32770541	Intron 33	Yes
COL1A2_0434	c.2026-1_2031dup	Intronic	Duplication	Splice acceptor	Pathogenic	<5	III, IV	28810924	Intron 33	No
COL1A2_0435	c.2027G>T	p.Gly676Val	SNV	Missense	Pathogenic	<5	III, IV	11113887, 11359465, 12538651, Show More >>	Exon 34	Yes
COL1A2_0436	c.2027G>C	p.Gly676Ala	SNV	Missense	Likely Pathogenic	<5		19344236, 31039433	Exon 34	No
COL1A2_0437	c.2027G>A	p.Gly676Asp	SNV	Missense	Pathogenic	<5	I, III, IV	16705691, 17955022, 19344236, Show More >>	Exon 34	Yes
COL1A2_0438	c.2035G>A	p.Gly679Ser	SNV	Missense	Pathogenic	<5	III	19344236, 38785520	Exon 34	Yes
COL1A2_0439	c.2038_2055dup	p.Ala680_Gly685dup	Duplication	Insertion	Likely Pathogenic	<5	III, IV	11668615, 19344236	Exon 34	No
COL1A2_0440	c.2045G>T	p.Gly682Val	SNV	Missense	Likely Pathogenic	<5	III	19344236, 31447884	Exon 34	No
COL1A2_0441	c.2045G>A	p.Gly682Asp	SNV	Missense	Likely Pathogenic	<5	III	17078022, 19344236	Exon 34	Yes
COL1A2_0442	c.2071G>C	p.Gly691Arg	SNV	Missense	Likely Pathogenic	<5		19344236, 31039433	Exon 34	No
COL1A2_0443	c.2072G>A	p.Gly691Asp	SNV	Missense	Likely Pathogenic	<5		19344236, 27335225	Exon 34	Yes
COL1A2_0444	c.2077C>T	p.Arg693Trp	SNV	Missense	Uncertain Significance	<5		35903967	Exon 34	Yes
COL1A2_0445	c.2081G>A	p.Gly694Asp	SNV	Missense	Pathogenic	<5	I, III, IV	19344236, 27748872, 30715774, Show More >>	Exon 35	Yes
COL1A2_0446	c.2089G>T	p.Gly697Trp	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 30715774	Exon 35	Yes
COL1A2_0447	c.2098G>C	p.Gly700Arg	SNV	Missense	Likely Pathogenic	<5		19344236, 33939306	Exon 35	Yes
COL1A2_0448	c.2098G>T	p.Gly700Cys	SNV	Missense	Pathogenic	<5		19331686, 19344236, 19594296, Show More >>	Exon 35	Yes
COL1A2_0449	c.2104_2121dup	p.Ala702_Pro707dup	Duplication	Insertion	Likely Pathogenic	<5	III	19344236, 31447884	Exon 35	No
COL1A2_0450	c.2107G>A	p.Gly703Ser	SNV	Missense	Likely Pathogenic	<5		19344236, 26235824, 31039433, Show More >>	Exon 35	No
COL1A2_0451	c.2108G>T	p.Gly703Val	SNV	Missense	Pathogenic	<5	IV	19344236, 30715774, 33939306, Show More >>	Exon 35	No
COL1A2_0452	c.2113_2121dup	p.Ala705_Pro707dup	Duplication	Insertion	Likely Pathogenic	<5		19344236, 35250876	Exon 35	No
COL1A2_0453	c.2113_2121del	p.Ala705_Pro707del	Deletion	Deletion	Likely Pathogenic	<5	II	11668615, 19344236	Exon 35	No
COL1A2_0454	c.2122C>T	p.Arg708Trp	SNV	Missense	Uncertain Significance	<5		31322791	Exon 35	Yes
COL1A2_0455	c.2123G>A	p.Arg708Gln	SNV	Missense	Likely Benign	<5		17206620, 17211858, 18028452, Show More >>	Exon 35	Yes
COL1A2_0456	c.2133+8A>C	Intronic	SNV	Intronic	Uncertain Significance	<5	IV	16705691	Intron 35	Yes
COL1A2_0457	c.2133+5G>A	Intronic	SNV	Splice region	Pathogenic	<5	II	21239989, 36577754	Intron 35	No
COL1A2_0458	c.2133+6T>A	Intronic	SNV	Splice region	Pathogenic	<5	I, IV	16705691, 30715774, 35223854, Show More >>	Intron 35	Yes
COL1A2_0459	c.2134G>A	p.Gly712Ser	SNV	Missense	Pathogenic	<5	III, IV	17078022, 19344236, 36709916, Show More >>	Exon 36	Yes
COL1A2_0460	c.2135G>A	p.Gly712Asp	SNV	Missense	Likely Pathogenic	<5		18487610, 19344236	Exon 36	No
COL1A2_0461	c.2141G>T	p.Arg714Leu	SNV	Missense	Uncertain Significance	<5	I	30715774	Exon 36	Yes
COL1A2_0462	c.2143G>A	p.Gly715Ser	SNV	Missense	Likely Pathogenic	<5	III, IV	19344236, 20087402	Exon 36	No
COL1A2_0463	c.2144G>A	p.Gly715Asp	SNV	Missense	Pathogenic	<5	II	19344236, 21239989, 9367795	Exon 36	Yes
COL1A2_0464	c.2152G>A	p.Gly718Ser	SNV	Missense	Likely Pathogenic	<5	II	17078022, 19344236	Exon 36	Yes
COL1A2_0465	c.2152G>T	p.Gly718Cys	SNV	Missense	Pathogenic	<5	II, III, IV	19344236, 32333414	Exon 36	No
COL1A2_0466	c.2161G>A	p.Gly721Ser	SNV	Missense	Likely Pathogenic	<5	II	17078022, 19344236	Exon 36	No
COL1A2_0467	c.2171G>A	p.Gly724Glu	SNV	Missense	Likely Pathogenic	<5		19344236, 29946973	Exon 36	No
COL1A2_0468	c.2179G>T	p.Gly727Cys	SNV	Missense	Likely Pathogenic	<5		19344236, 36396825	Exon 36	Yes
COL1A2_0469	c.2187+2T>C	Intronic	SNV	Splice donor	Pathogenic	<5		16705691	Intron 36	No
COL1A2_0470	c.2188G>T	p.Gly730Cys	SNV	Missense	Pathogenic	<5	II, III	11113887, 11471191, 19344236, Show More >>	Exon 37	No
COL1A2_0471	c.2188G>C	p.Gly730Arg	SNV	Missense	Likely Pathogenic	<5	II	19344236, 22911485, 33777089	Exon 37	No
COL1A2_0472	c.2189G>A	p.Gly730Asp	SNV	Missense	Pathogenic	<5		19344236, 36352425	Exon 37	No
COL1A2_0473	c.2189G>T	p.Gly730Val	SNV	Missense	Pathogenic	<5		19344236, 33777089	Exon 37	Yes
COL1A2_0474	c.2197G>T	p.Gly733Cys	SNV	Missense	Pathogenic	<5	I, IV	16786509, 19344236, 22795107, Show More >>	Exon 37	No
COL1A2_0475	c.2198G>T	p.Gly733Val	SNV	Missense	Pathogenic	<5	IV	19344236, 25086671, 36140746	Exon 37	No
COL1A2_0476	c.2206G>T	p.Gly736Cys	SNV	Missense	Pathogenic	<5		11359465, 18487610, 19344236, Show More >>	Exon 37	Yes
COL1A2_0477	c.2207G>A	p.Gly736Asp	SNV	Missense	Likely Pathogenic	<5		19344236	Exon 37	No
COL1A2_0478	c.2215G>A	p.Gly739Arg	SNV	Missense	Pathogenic	<5		18996919, 19344236, 33939306, Show More >>	Exon 37	Yes
COL1A2_0479	c.2215G>C	p.Gly739Arg	SNV	Missense	Pathogenic	<5		18996919, 19344236, 33939306, Show More >>	Exon 37	Yes
COL1A2_0480	c.2224G>A	p.Gly742Arg	SNV	Missense	Likely Pathogenic	<5	I	19344236, 31447884	Exon 37	No
COL1A2_0481	c.2233G>A	p.Gly745Arg	SNV	Missense	Pathogenic	<5		19344236, 30715774, 31447884, Show More >>	Exon 37	Yes
COL1A2_0482	c.2233G>C	p.Gly745Arg	SNV	Missense	Pathogenic	<5		19344236, 30715774, 31447884, Show More >>	Exon 37	No
COL1A2_0483	c.2234G>A	p.Gly745Glu	SNV	Missense	Pathogenic	<5	II, III	11286507, 19344236, 21239989, Show More >>	Exon 37	Yes
COL1A2_0484	c.2242G>A	p.Gly748Ser	SNV	Missense	Pathogenic	<5	I, IV	19344236, 24668929, 30715774	Exon 37	Yes
COL1A2_0485	c.2243G>T	p.Gly748Val	SNV	Missense	Likely Pathogenic	<5	II	18996919, 19344236	Exon 37	No
COL1A2_0486	c.2251G>A	p.Gly751Ser	SNV	Missense	Pathogenic	<5		12173309, 1463018, 1737847, Show More >>	Exon 37	Yes
COL1A2_0487	c.2252G>T	p.Gly751Val	SNV	Missense	Pathogenic	<5	III	19344236, 24668929, 36709916	Exon 37	Yes
COL1A2_0488	c.2260G>T	p.Gly754Cys	SNV	Missense	Pathogenic	<5	II, III, IV	16879195, 19344236, 31428121	Exon 37	Yes
COL1A2_0489	c.2261G>T	p.Gly754Val	SNV	Missense	Pathogenic	<5	III	19344236, 27519266, 36709916	Exon 37	No
COL1A2_0490	c.2279G>A	p.Gly760Glu	SNV	Missense	Pathogenic	<5	IV	11286507, 19344236, 23548243, Show More >>	Exon 37	No
COL1A2_0491	c.2288G>T	p.Gly763Val	SNV	Missense	Pathogenic	<5	III, IV	17955022, 19344236, 22031238, Show More >>	Exon 37	No
COL1A2_0492	c.2288G>A	p.Gly763Asp	SNV	Missense	Pathogenic	<5	I, III	19344236, 26627451, 33470886, Show More >>	Exon 37	Yes
COL1A2_0493	c.2295+1G>A	Intronic	SNV	Splice donor	Pathogenic	<5		36896471	Intron 37	Yes
COL1A2_0494	c.2295+1G>C	Intronic	SNV	Splice donor	Pathogenic	<5		36140746	Intron 37	No
COL1A2_0495	c.2296-82C>T	Intronic	SNV	Intronic	Uncertain Significance	<5		21602843	Intron 37	No
COL1A2_0496	c.2296-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	<5	IV	9203215	Intron 37	Yes
COL1A2_0497	c.2296G>T	p.Gly766Cys	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 31414283	Exon 38	No
COL1A2_0498	c.2296G>A	p.Gly766Ser	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 31737030	Exon 38	Yes
COL1A2_0499	c.2296G>C	p.Gly766Arg	SNV	Missense	Likely Pathogenic	<5		19344236, 38828893	Exon 38	Yes
COL1A2_0500	c.2297G>T	p.Gly766Val	SNV	Missense	Pathogenic	<5	IV	19344236, 7693712	Exon 38	Yes
COL1A2_0501	c.2305G>C	p.Gly769Arg	SNV	Missense	Pathogenic	<5	I, IV	19344236, 30684648, 30715774, Show More >>	Exon 38	No
COL1A2_0502	c.2309C>T	p.Pro770Leu	SNV	Missense	Uncertain Significance	<5		26264438	Exon 38	Yes
COL1A2_0503	c.2314G>A	p.Gly772Ser	SNV	Missense	Pathogenic	<5	I, III, IV	19344236, 23934635, 26471105, Show More >>	Exon 38	Yes
COL1A2_0504	c.2314G>C	p.Gly772Arg	SNV	Missense	Pathogenic	<5	III, IV	19344236, 31794058, 36951356, Show More >>	Exon 38	Yes
COL1A2_0505	c.2314G>T	p.Gly772Cys	SNV	Missense	Likely Pathogenic	<5	III	19344236, 23934635	Exon 38	Yes
COL1A2_0506	c.2323G>A	p.Gly775Arg	SNV	Missense	Pathogenic	<5		19344236, 30715774, 31414283	Exon 38	Yes
COL1A2_0507	c.2323G>C	p.Gly775Arg	SNV	Missense	Pathogenic	<5		19344236, 30715774, 31414283	Exon 38	Yes
COL1A2_0508	c.2324G>A	p.Gly775Glu	SNV	Missense	Pathogenic	<5	III, IV	19344236, 28725987, 31414283, Show More >>	Exon 38	Yes
COL1A2_0509	c.2329_2331del	p.Arg777del	Deletion	Deletion	Likely Pathogenic	<5		19344236, 33262486	Exon 38	No
COL1A2_0510	c.2330G>A	p.Arg777His	SNV	Missense	Uncertain Significance	<5	III	28725987, 31566912	Exon 38	Yes
COL1A2_0511	c.2332G>A	p.Gly778Ser	SNV	Missense	Pathogenic	<5	III, IV	18487610, 19344236, 21667357, Show More >>	Exon 38	Yes
COL1A2_0512	c.2332G>T	p.Gly778Cys	SNV	Missense	Likely Pathogenic	<5		19344236, 31680973	Exon 38	No
COL1A2_0513	c.2333G>A	p.Gly778Asp	SNV	Missense	Likely Pathogenic	<5		19344236, 30886339	Exon 38	Yes
COL1A2_0514	c.2341G>A	p.Gly781Ser	SNV	Missense	Pathogenic	<5	I, IV	19344236, 28725987, 36709916	Exon 38	No
COL1A2_0515	c.2341G>T	p.Gly781Cys	SNV	Missense	Likely Pathogenic	<5		19344236, 31680973	Exon 38	No
COL1A2_0516	c.2341G>C	p.Gly781Arg	SNV	Missense	Pathogenic	<5	I, III, IV	19344236, 30715774, 35052464, Show More >>	Exon 38	Yes
COL1A2_0517	c.2350G>C	p.Gly784Arg	SNV	Missense	Likely Pathogenic	<5	II	1874719, 19344236, 2010058	Exon 39	No
COL1A2_0518	c.2350-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	<5		34775388	Intron 38	No
COL1A2_0519	c.2350G>A	p.Gly784Ser	SNV	Missense	Pathogenic	<5	III	17078022, 17955022, 19344236, Show More >>	Exon 39	No
COL1A2_0520	c.2359G>T	p.Gly787Cys	SNV	Missense	Pathogenic	<5	II	10627137, 11471191, 19344236, Show More >>	Exon 39	Yes
COL1A2_0521	c.2360G>A	p.Gly787Asp	SNV	Missense	Pathogenic	<5	II	19344236, 21239989	Exon 39	No
COL1A2_0522	c.2369G>C	p.Gly790Ala	SNV	Missense	Pathogenic	<5	I	19344236, 20087402, 28378289, Show More >>	Exon 39	No
COL1A2_0523	c.2369G>A	p.Gly790Asp	SNV	Missense	Pathogenic	<5	II	18996919, 19344236, 8182080	Exon 39	No
COL1A2_0524	c.2375C>A	p.Ala792Asp	SNV	Missense	Uncertain Significance	<5		30719581	Exon 39	No
COL1A2_0525	c.2377G>C	p.Gly793Arg	SNV	Missense	Pathogenic	<5		15241796, 18798308, 19344236, Show More >>	Exon 39	No
COL1A2_0526	c.2377G>A	p.Gly793Arg	SNV	Missense	Pathogenic	<5		15241796, 18798308, 19344236, Show More >>	Exon 39	No
COL1A2_0527	c.2381G>A	p.Arg794Gln	SNV	Missense	Uncertain Significance	<5		34958866	Exon 39	Yes
COL1A2_0528	c.2386G>T	p.Gly796Cys	SNV	Missense	Likely Pathogenic	<5	II	17875077, 19344236	Exon 39	No
COL1A2_0529	c.2386G>A	p.Gly796Ser	SNV	Missense	Pathogenic	<5	II	17078022, 17875077, 18487610, Show More >>	Exon 39	No
COL1A2_0530	c.2387G>C	p.Gly796Ala	SNV	Missense	Pathogenic	<5	I, IV	17078022, 19344236, 30715774	Exon 39	Yes
COL1A2_0531	c.2391_2393dup	p.Pro798dup	Duplication	Insertion	Likely Pathogenic	<5	II	18996919, 19344236	Exon 39	No
COL1A2_0532	c.2404G>A	p.Gly802Ser	SNV	Missense	Pathogenic	<5	I	19344236, 30715774, 31737030	Exon 40	Yes
COL1A2_0533	c.2405G>T	p.Gly802Val	SNV	Missense	Pathogenic	<5	II	19344236, 35896820	Exon 40	Yes
COL1A2_0534	c.2406T>C	p.Gly802=	SNV	Silent	Uncertain Significance	<5		29162237	Exon 40	Yes
COL1A2_0535	c.2413G>C	p.Gly805Arg	SNV	Missense	Likely Pathogenic	<5	I	19344236, 31304589	Exon 40	No
COL1A2_0536	c.2414G>T	p.Gly805Val	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 30715774	Exon 40	No
COL1A2_0537	c.2415_2432del	p.Pro807_Pro812del	Deletion	Deletion	Likely Pathogenic	<5	II	18996919, 19344236	Exon 40	No
COL1A2_0538	c.2422G>T	p.Gly808Cys	SNV	Missense	Pathogenic	<5	I, III	19344236, 34567078	Exon 40	No
COL1A2_0539	c.2422G>A	p.Gly808Ser	SNV	Missense	Likely Pathogenic	<5	III	19344236, 36709916	Exon 40	Yes
COL1A2_0540	c.2425C>T	p.Pro809Ser	SNV	Missense	Uncertain Significance	<5		34317605	Exon 40	Yes
COL1A2_0541	c.2427_2435dup	p.Pro810_Pro812dup	Duplication	Insertion	Pathogenic	<5	IV	16705691, 19344236, 31363794	Exon 40	No
COL1A2_0542	c.2428C>T	p.Pro810Ser	SNV	Missense	Uncertain Significance	<5		21884818	Exon 40	Yes
COL1A2_0543	c.2434C>T	p.Pro812Ser	SNV	Missense	Uncertain Significance	<5	III, IV	32770541	Exon 40	Yes
COL1A2_0544	c.2441G>A	p.Gly814Glu	SNV	Missense	Likely Pathogenic	<5		19344236, 27748872	Exon 40	Yes
COL1A2_0545	c.2450G>T	p.Gly817Val	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 21667357	Exon 40	No
COL1A2_0546	c.2456G>A	p.Arg819His	SNV	Missense	Uncertain Significance	<5		34422331	Exon 40	Yes
COL1A2_0547	c.2458G>A	p.Gly820Ser	SNV	Missense	Pathogenic	<5	III	16705691, 19344236, 31429852	Exon 40	No
COL1A2_0548	c.2461C>T	p.Pro821Ser	SNV	Missense	Uncertain Significance	<5	I	30715774	Exon 40	No
COL1A2_0549	c.2465G>A	p.Arg822His	SNV	Missense	Uncertain Significance	<5	I	8829649	Exon 40	Yes
COL1A2_0550	c.2467G>A	p.Gly823Ser	SNV	Missense	Likely Pathogenic	<5		19344236, 25742658	Exon 40	No
COL1A2_0551	c.2482G>T	p.Val828Phe	SNV	Missense	Uncertain Significance	<5		35855989, 38737102	Exon 40	Yes
COL1A2_0552	c.2486G>A	p.Gly829Asp	SNV	Missense	Likely Pathogenic	<5	II	19344236, 35627109	Exon 40	Yes
COL1A2_0553	c.2495G>T	p.Gly832Val	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 30715774	Exon 40	No
COL1A2_0554	c.2503G>T	p.Gly835Cys	SNV	Missense	Pathogenic	<5	III	16879195, 19344236, 29432813, Show More >>	Exon 40	No
COL1A2_0555	c.2503G>A	p.Gly835Ser	SNV	Missense	Pathogenic	<5	I, III, IV	19344236, 24767406, 27146342, Show More >>	Exon 40	Yes
COL1A2_0556	c.2506G>A	p.Ala836Thr	SNV	Missense	Uncertain Significance	<5		39502218	Exon 40	Yes
COL1A2_0557	c.2512G>A	p.Gly838Ser	SNV	Missense	Pathogenic	<5		19344236, 26938784	Exon 40	Yes
COL1A2_0558	c.2521G>A	p.Gly841Ser	SNV	Missense	Pathogenic	<5	III	19344236, 9099837, 9272740, Show More >>	Exon 40	Yes
COL1A2_0559	c.2531G>A	p.Gly844Asp	SNV	Missense	Pathogenic	<5	I	16470573, 19344236, 22795107, Show More >>	Exon 40	No
COL1A2_0560	c.?	p.Lys846Asp		Missense	Uncertain Significance	<5	I	27519266	Exon 40	Unknown
COL1A2_0561	c.2539G>A	p.Gly847Ser	SNV	Missense	Pathogenic	<5	IV	19344236, 30715774, 34306033, Show More >>	Exon 40	Yes
COL1A2_0562	c.2563G>A	p.Ala855Thr	SNV	Missense	Likely Benign	<5		29499418	Exon 40	Yes
COL1A2_0563	c.2565+5G>A	Intronic	SNV	Splice region	Likely Pathogenic	<5	II	11317364	Intron 40	No
COL1A2_0564	c.2565+1G>A	Intronic	SNV	Splice donor	Pathogenic	<5	IV	16705691, 29499418, 31429852, Show More >>	Intron 40	Yes
COL1A2_0565	c.2566G>A	p.Gly856Arg	SNV	Missense	Likely Pathogenic	<5	III	16705691, 19344236	Exon 41	No
COL1A2_0566	c.2567G>T	p.Gly856Val	SNV	Missense	Likely Pathogenic	<5	II	18996919, 19344236	Exon 41	No
COL1A2_0567	c.2569C>A	p.Pro857Thr	SNV	Missense	Likely Benign	<5	III, IV	27519266, 30715774, 30984112	Exon 41	Yes
COL1A2_0568	c.2575G>A	p.Gly859Ser	SNV	Missense	Pathogenic	<5	I, III	15241796, 19344236, 24863959	Exon 41	Yes
COL1A2_0569	c.2576G>A	p.Gly859Asp	SNV	Missense	Pathogenic	<5		19344236, 30266093	Exon 41	Yes
COL1A2_0570	c.2584G>A	p.Gly862Ser	SNV	Missense	Likely Pathogenic	<5		19344236	Exon 41	Yes
COL1A2_0571	c.2599_2601del	p.Leu867del	Deletion	Deletion	Likely Pathogenic	<5	IV	19344236, 22753364	Exon 41	No
COL1A2_0572	c.2621G>C	p.Gly874Ala	SNV	Missense	Likely Pathogenic	<5		19344236, 37035737	Exon 41	Yes
COL1A2_0573	c.2621G>A	p.Gly874Asp	SNV	Missense	Likely Pathogenic	<5		19344236, 30886339	Exon 41	No
COL1A2_0574	c.2642A>C	p.Glu881Ala	SNV	Missense	Uncertain Significance	<5	I	31447884, 35723357, 37810882	Exon 41	Yes
COL1A2_0575	c.2644C>T	p.Arg882Cys	SNV	Missense	Uncertain Significance	<5		33064175	Exon 41	Yes
COL1A2_0576	c.2656G>A	p.Gly886Ser	SNV	Missense	Likely Pathogenic	<5		19344236, 37715362	Exon 41	Yes
COL1A2_0577	c.2657G>T	p.Gly886Val	SNV	Missense	Pathogenic	<5		19344236, 30692697	Exon 41	Yes
COL1A2_0578	c.2673G>A	p.Val891=	SNV	Silent	Uncertain Significance	<5		36647814	Exon 41	Yes
COL1A2_0579	c.2673+5G>A	Intronic	SNV	Splice region	Likely Pathogenic	<5	II	35627109	Intron 41	No
COL1A2_0580	c.2673+1G>A	Intronic	SNV	Splice donor	Pathogenic	<5	II	18996919	Intron 41	Yes
COL1A2_0581	c.2674-3T>G	Intronic	SNV	Splice region	Uncertain Significance	<5	II	17078022	Intron 41	Yes
COL1A2_0582	c.2675G>A	p.Gly892Asp	SNV	Missense	Pathogenic	<5	III, IV	11113887, 15024692, 19344236, Show More >>	Exon 42	Yes
COL1A2_0583	c.2684G>A	p.Gly895Asp	SNV	Missense	Pathogenic	<5	II	1696002, 19344236, 30692697, Show More >>	Exon 42	Yes
COL1A2_0584	c.2693G>T	p.Gly898Val	SNV	Missense	Likely Pathogenic	<5	III	19344236, 36951356	Exon 42	Yes
COL1A2_0585	c.2701G>A	p.Gly901Ser	SNV	Missense	Pathogenic	<5	II, IV	17078022, 19344236, 21239989, Show More >>	Exon 42	Yes
COL1A2_0586	c.2710G>C	p.Gly904Arg	SNV	Missense	Likely Pathogenic	<5	I	15241796, 19344236	Exon 42	Yes
COL1A2_0587	c.2711G>C	p.Gly904Ala	SNV	Missense	Likely Pathogenic	<5		31039433	Exon 42	Yes
COL1A2_0588	c.2712_2729del	p.Arg906_Ala911del	Deletion	Deletion	Likely Pathogenic	<5	II	11668615, 19344236	Exon 42	No
COL1A2_0589	c.2717G>A	p.Arg906His	SNV	Missense	Uncertain Significance	<5	III	25289482, 39148098	Exon 42	Yes
COL1A2_0590	c.2720del	p.Gly907Valfs*116	Deletion	Frameshift	Pathogenic	<5		19344236, 31061748	Exon 42	No
COL1A2_0591	c.2727dup	p.Gly910Trpfs*5	Duplication	Frameshift	Likely Pathogenic	<5		37021343	Exon 42	No
COL1A2_0592	c.2738G>A	p.Gly913Asp	SNV	Missense	Likely Pathogenic	<5	I, IV	19344236, 36951356	Exon 42	Yes
COL1A2_0593	c.2740A>G	p.Ser914Gly	SNV	Missense	Uncertain Significance	<5	I	32989910	Exon 42	Yes
COL1A2_0594	c.2746G>C	p.Gly916Arg	SNV	Missense	Pathogenic	<5		19344236, 25835785	Exon 42	No
COL1A2_0595	c.2746G>A	p.Gly916Arg	SNV	Missense	Pathogenic	<5		19344236, 25835785	Exon 42	Yes
COL1A2_0596	c.2747G>A	p.Gly916Glu	SNV	Missense	Likely Pathogenic	<5	II	19344236, 24863959	Exon 42	No
COL1A2_0597	c.2755G>A	p.Gly919Ser	SNV	Missense	Pathogenic	<5	IV	19344236, 31039433, 31414283, Show More >>	Exon 42	Yes
COL1A2_0598	c.2755G>C	p.Gly919Arg	SNV	Missense	Likely Pathogenic	<5		31039433	Exon 42	No
COL1A2_0599	c.2756G>A	p.Gly919Asp	SNV	Missense	Pathogenic	<5	II, III	19344236, 24863959, 35052464	Exon 42	Yes
COL1A2_0600	c.2764G>A	p.Gly922Ser	SNV	Missense	Likely Pathogenic	<5		19344236, 27748872	Exon 42	No
COL1A2_0601	c.2765G>T	p.Gly922Val	SNV	Missense	Likely Pathogenic	<5	III	19344236, 31414283	Exon 42	No
COL1A2_0602	c.2774G>A	p.Gly925Asp	SNV	Missense	Pathogenic	<5	IV	19344236, 30715774, 31363794	Exon 42	Yes
COL1A2_0603	c.2776C>T	p.Arg926Cys	SNV	Missense	Uncertain Significance	<5		35723357	Exon 42	Yes
COL1A2_0604	c.2777G>A	p.Arg926His	SNV	Missense	Uncertain Significance	<5		29499418	Exon 42	Yes
COL1A2_0605	c.2783G>A	p.Gly928Asp	SNV	Missense	Pathogenic	<5		19344236, 36140746	Exon 43	No
COL1A2_0606	c.2783G>T	p.Gly928Val	SNV	Missense	Likely Pathogenic	<5	II	19344236, 24863959	Exon 43	Yes
COL1A2_0607	c.2791G>A	p.Gly931Arg	SNV	Missense	Pathogenic	<5	IV	19344236, 27519266, 33939306	Exon 43	Yes
COL1A2_0608	c.2797G>A	p.Asp933Asn	SNV	Missense	Uncertain Significance	<5	I	32667677	Exon 43	Yes
COL1A2_0609	c.2819G>T	p.Gly940Val	SNV	Missense	Likely Pathogenic	<5		19344236	Exon 43	Yes
COL1A2_0610	c.2821C>A	p.Gln941Lys	SNV	Missense	Uncertain Significance	<5		35252483	Exon 43	No
COL1A2_0611	c.2827G>A	p.Gly943Arg	SNV	Missense	Pathogenic	<5	IV	19344236, 35830949, 36896471, Show More >>	Exon 43	Yes
COL1A2_0612	c.2835+1G>A	Intronic	SNV	Splice donor	Pathogenic	<5	I, IV	15241796, 28498836, 29595812, Show More >>	Intron 43	Yes
COL1A2_0613	c.2835+1G>T	Intronic	SNV	Splice donor	Pathogenic	<5		36352425	Intron 43	Yes
COL1A2_0614	c.2845G>A	p.Gly949Ser	SNV	Missense	Pathogenic	<5	II, III, IV	10608859, 11359465, 17078022, Show More >>	Exon 44	Yes
COL1A2_0615	c.2854G>A	p.Gly952Ser	SNV	Missense	Likely Pathogenic	<5	III	19344236, 36951356	Exon 44	Yes
COL1A2_0616	c.2861T>C	p.Ile954Thr	SNV	Missense	Likely Benign	<5		27011056	Exon 44	Yes
COL1A2_0617	c.2863G>A	p.Gly955Ser	SNV	Missense	Pathogenic	<5	II, III, IV	19344236, 20087402, 2777764, Show More >>	Exon 44	Yes
COL1A2_0618	c.2864G>A	p.Gly955Asp	SNV	Missense	Likely Pathogenic	<5	II	18996919, 19344236	Exon 44	Yes
COL1A2_0619	c.2873G>A	p.Gly958Asp	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 30715774	Exon 44	No
COL1A2_0620	c.2881G>A	p.Gly961Ser	SNV	Missense	Likely Pathogenic	<5		19344236, 31039433	Exon 44	No
COL1A2_0621	c.2882G>A	p.Gly961Asp	SNV	Missense	Likely Pathogenic	<5	I	19344236, 36951356	Exon 44	Yes
COL1A2_0622	c.2882G>T	p.Gly961Val	SNV	Missense	Likely Pathogenic	<5		19344236, 31039433	Exon 44	Yes
COL1A2_0623	c.2905G>A	p.Val969Met	SNV	Missense	Uncertain Significance	<5		34422331	Exon 44	Yes
COL1A2_0624	c.2908G>A	p.Gly970Ser	SNV	Missense	Likely Pathogenic	<5		19344236, 31039433	Exon 44	No
COL1A2_0625	c.2918G>T	p.Gly973Val	SNV	Missense	Pathogenic	<5	III	10408781, 19344236, 25944380, Show More >>	Exon 44	Yes
COL1A2_0626	c.2918G>A	p.Gly973Asp	SNV	Missense	Pathogenic	<5	III	19344236, 24668929, 27748872	Exon 44	Yes
COL1A2_0627	c.2933G>A	p.Arg978His	SNV	Missense	Likely Pathogenic	<5	III, IV	29807018, 37076969	Exon 44	Yes
COL1A2_0628	c.2943+21C>T	Intronic	SNV	Intronic	Uncertain Significance	<5		34740356	Intron 44	No
COL1A2_0629	c.2943del	p.Gly982Valfs*41	Deletion	Frameshift	Pathogenic	<5	I, IV	35154279, 39126373	Exon 44	No
COL1A2_0630	c.2943+1_2943+2del	Intronic	Deletion	Splice donor	Likely Pathogenic	<5	III	30715774, 31737030	Intron 44	No
COL1A2_0631	c.2944-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	<5	II	16786509	Intron 44	No
COL1A2_0632	c.2944G>A	p.Gly982Ser	SNV	Missense	Pathogenic	<5	III, IV	19344236, 20087402, 31737030	Exon 45	Yes
COL1A2_0633	c.2945G>A	p.Gly982Asp	SNV	Missense	Likely Pathogenic	<5	II	16786509, 19344236	Exon 45	No
COL1A2_0634	c.2957C>T	p.Pro986Leu	SNV	Missense	Uncertain Significance	<5		31061748	Exon 45	Yes
COL1A2_0635	c.2958del	p.Val987Leufs*36	Deletion	Frameshift	Pathogenic	<5		36896471	Exon 45	Yes
COL1A2_0636	c.2960_2968dup	p.Val987_Pro989dup	Duplication	Insertion	Pathogenic	<5	I, IV	16705691, 19344236, 21667357, Show More >>	Exon 45	No
COL1A2_0637	c.2963G>T	p.Gly988Val	SNV	Missense	Pathogenic	<5	III	18798308, 19344236, 22589248	Exon 45	No
COL1A2_0638	c.2964_2981dup	p.Ala990_Pro995dup	Duplication	Insertion	Likely Pathogenic	<5		11668615, 19344236	Exon 45	No
COL1A2_0639	c.2967_2984dup	p.Ala990_Pro995dup	Duplication	Insertion	Likely Pathogenic	<5		11668615, 19344236	Exon 45	No
COL1A2_0640	c.2971G>C	p.Gly991Arg	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 35052464	Exon 45	No
COL1A2_0641	c.2972G>T	p.Gly991Val	SNV	Missense	Likely Pathogenic	<5	III	16879195, 19344236	Exon 45	No
COL1A2_0642	c.2981G>A	p.Gly994Asp	SNV	Missense	Pathogenic	<5	II	19344236, 21239989, 30693677	Exon 45	No
COL1A2_0643	c.2989G>A	p.Gly997Ser	SNV	Missense	Likely Pathogenic	<5		19344236, 29499418	Exon 45	Yes
COL1A2_0644	c.2990G>A	p.Gly997Asp	SNV	Missense	Likely Pathogenic	<5	II	19344236, 2010058, 2914942, Show More >>	Exon 45	No
COL1A2_0645	c.3008G>A	p.Gly1003Asp	SNV	Missense	Pathogenic	<5	II, III	16786509, 19344236, 24342908, Show More >>	Exon 46	Yes
COL1A2_0646	c.3014G>A	p.Arg1005His	SNV	Missense	Uncertain Significance	<5	III	38828893	Exon 46	Yes
COL1A2_0647	c.3016G>A	p.Gly1006Ser	SNV	Missense	Pathogenic	<5	III, IV	17078022, 19344236, 35073670	Exon 46	Yes
COL1A2_0648	c.3034G>T	p.Gly1012Cys	SNV	Missense	Likely Pathogenic	<5		19344236, 33939306	Exon 46	No
COL1A2_0649	c.3034G>A	p.Gly1012Ser	SNV	Missense	Pathogenic	<5	I, III, IV	11359465, 15241796, 16705691, Show More >>	Exon 46	Yes
COL1A2_0650	c.3047C>A	p.Pro1016His	SNV	Missense	Uncertain Significance	<5	IV	25944380	Exon 46	Yes
COL1A2_0651	c.3052G>A	p.Gly1018Ser	SNV	Missense	Pathogenic	<5		19344236, 36140746	Exon 46	No
COL1A2_0652	c.3055C>T	p.Leu1019Phe	SNV	Missense	Uncertain Significance	<5		35903967, 35918752	Exon 46	No
COL1A2_0653	c.3070G>C	p.Gly1024Arg	SNV	Missense	Likely Pathogenic	<5		19344236, 21239989	Exon 46	No
COL1A2_0654	c.3070G>A	p.Gly1024Arg	SNV	Missense	Likely Pathogenic	<5		19344236, 21239989	Exon 46	Yes
COL1A2_0655	c.3080G>A	p.Gly1027Glu	SNV	Missense	Likely Pathogenic	<5	II	18996919, 19344236	Exon 46	Yes
COL1A2_0656	c.3089G>C	p.Gly1030Ala	SNV	Missense	Pathogenic	<5	I, III	19344236, 25944380, 27510842, Show More >>	Exon 46	Yes
COL1A2_0657	c.3089G>T	p.Gly1030Val	SNV	Missense	Pathogenic	<5	II	19344236, 38268232	Exon 46	No
COL1A2_0658	c.3089G>A	p.Gly1030Asp	SNV	Missense	Likely Pathogenic	<5	I	19344236, 21344539	Exon 46	Yes
COL1A2_0659	c.3105+15G>C	Intronic	SNV	Intronic	Uncertain Significance	<5		21602843	Intron 46	No
COL1A2_0660	c.3105+43G>A	Intronic	SNV	Intronic	Benign	<5			Intron 46	Yes
COL1A2_0661	c.3106G>T	p.Gly1036Cys	SNV	Missense	Likely Pathogenic	<5	I	19344236, 30715774, 31737030	Exon 47	Yes
COL1A2_0662	c.3106G>C	p.Gly1036Arg	SNV	Missense	Pathogenic	<5	III, IV	19344236, 25944380, 27510842, Show More >>	Exon 47	Yes
COL1A2_0663	c.3115_3116delinsTT	p.Gly1039Phe	Delins	Missense	Likely Pathogenic	<5	II	19344236, 21239989	Exon 47	No
COL1A2_0664	c.3124G>A	p.Gly1042Ser	SNV	Missense	Likely Pathogenic	<5	III	19344236, 25289482	Exon 47	Yes
COL1A2_0665	c.3134G>A	p.Gly1045Asp	SNV	Missense	Pathogenic	<5		19344236, 36352425	Exon 47	Yes
COL1A2_0666	c.3135C>A	p.Gly1045=	SNV	Silent	Benign	<5			Exon 47	Yes
COL1A2_0667	c.3135C>T	p.Gly1045=	SNV	Silent	Benign	<5			Exon 47	Yes
COL1A2_0668	c.3142G>A	p.Gly1048Ser	SNV	Missense	Likely Pathogenic	<5	I	19344236, 31039433, 36951356	Exon 47	Yes
COL1A2_0669	c.3159G>A	p.Arg1053=	SNV	Silent	Uncertain Significance	<5	IV	36951356	Exon 47	Yes
COL1A2_0670	c.?	p.Gly1054Gly		Missense	Uncertain Significance	<5		18272325	Exon 48	Unknown
COL1A2_0671	c.3171_3188del	p.Pro1058_Gly1063del	Deletion	Deletion	Likely Pathogenic	<5	II	18996919, 19344236	Exon 48	No
COL1A2_0672	c.3187G>A	p.Gly1063Arg	SNV	Missense	Uncertain Significance	<5		31039433	Exon 48	No
COL1A2_0673	c.3196G>A	p.Gly1066Ser	SNV	Missense	Likely Pathogenic	<5		31039433, 36896471	Exon 48	Yes
COL1A2_0674	c.3197G>T	p.Gly1066Val	SNV	Missense	Pathogenic	<5	I, IV	19344236, 26307460, 27748872, Show More >>	Exon 48	Yes
COL1A2_0675	c.3200G>A	p.Arg1067His	SNV	Missense	Uncertain Significance	<5		23656646	Exon 48	Yes
COL1A2_0676	c.3215G>T	p.Gly1072Val	SNV	Missense	Pathogenic	<5	I, IV	19344236, 34306033, 37810882	Exon 48	Yes
COL1A2_0677	c.3227C>A	p.Pro1076His	SNV	Missense	Uncertain Significance	<5	III	30715774, 33942288	Exon 48	Yes
COL1A2_0678	c.3233G>A	p.Gly1078Asp	SNV	Missense	Pathogenic	<5	I, IV	19344236, 34201399, 35113812, Show More >>	Exon 48	Yes
COL1A2_0679	c.3239_3256dup	p.Arg1080_His1085dup	Duplication	Insertion	Likely Pathogenic	<5		19344236, 36655627	Exon 48	No
COL1A2_0680	c.3239_3265dup	p.Pro1088_Ala1089insGlyGlyProGlnGlyHisGlnGlyPro	Duplication	Insertion	Likely Pathogenic	<5	III	19344236, 31363794	Exon 48	No
COL1A2_0681	c.3239_3247dup	p.Arg1080_Pro1082dup	Duplication	Insertion	Likely Pathogenic	<5		19344236, 36655627	Exon 48	No
COL1A2_0682	c.3241G>A	p.Gly1081Ser	SNV	Missense	Uncertain Significance	<5		31039433	Exon 48	No
COL1A2_0683	c.3250G>T	p.Gly1084Cys	SNV	Missense	Pathogenic	<5	IV	19344236, 38461804, 38828893	Exon 48	Yes
COL1A2_0684	c.3251G>A	p.Gly1084Asp	SNV	Missense	Likely Pathogenic	<5	IV	19344236, 36709916	Exon 48	Yes
COL1A2_0685	c.3256C>T	p.Gln1086*	SNV	Nonsense	Pathogenic	<5	IV	38933926	Exon 48	Yes
COL1A2_0686	c.3260G>T	p.Gly1087Val	SNV	Missense	Likely Pathogenic	<5		19344236, 33939306	Exon 48	Yes
COL1A2_0687	c.3260G>A	p.Gly1087Asp	SNV	Missense	Pathogenic	<5	II, III	16786509, 19344236, 21239989	Exon 48	Yes
COL1A2_0688	c.3268G>T	p.Gly1090Cys	SNV	Missense	Likely Pathogenic	<5	III, IV	17078022, 19344236, 21530898	Exon 49	No
COL1A2_0689	c.3269G>A	p.Gly1090Asp	SNV	Missense	Pathogenic	<5	III	19208385, 19344236, 21530898, Show More >>	Exon 49	Yes
COL1A2_0690	c.3269G>T	p.Gly1090Val	SNV	Missense	Pathogenic	<5	III	19344236, 35627109	Exon 49	No
COL1A2_0691	c.3277G>C	p.Gly1093Arg	SNV	Missense	Likely Pathogenic	<5		19344236, 33939306	Exon 49	Yes
COL1A2_0692	c.3277G>A	p.Gly1093Ser	SNV	Missense	Pathogenic	<5	I, III	19344236, 35052464, 36923788	Exon 49	Yes
COL1A2_0693	c.3278G>C	p.Gly1093Ala	SNV	Missense	Likely Pathogenic	<5	III	19344236, 25086671	Exon 49	Yes
COL1A2_0694	c.3278G>A	p.Gly1093Asp	SNV	Missense	Likely Pathogenic	<5	III	19344236, 31429852	Exon 49	Yes
COL1A2_0695	c.3279_3287del	p.Pro1100_Gly1102del	Deletion	Deletion	Pathogenic	<5		11668615, 16705691, 19344236, Show More >>	Exon 49	No
COL1A2_0696	c.3279_3287dup	p.Pro1100_Gly1102dup	Duplication	Insertion	Likely Pathogenic	<5		19344236, 39239625	Exon 49	No
COL1A2_0697	c.3287G>C	p.Gly1096Ala	SNV	Missense	Pathogenic	<5	II, III	19208385, 19344236, 21530898, Show More >>	Exon 49	Yes
COL1A2_0698	c.3294_3302del	p.Pro1100_Gly1102del	Deletion	Deletion	Pathogenic	<5		11668615, 16705691, 19344236, Show More >>	Exon 49	No
COL1A2_0699	c.3295G>A	p.Gly1099Arg	SNV	Missense	Likely Pathogenic	<5	III	19208385, 19344236, 21530898, Show More >>	Exon 49	Yes
COL1A2_0700	c.3296G>A	p.Gly1099Glu	SNV	Missense	Pathogenic	<5	III	19344236, 31193991, 34025714, Show More >>	Exon 49	No
COL1A2_0701	c.3296G>C	p.Gly1099Ala	SNV	Missense	Likely Pathogenic	<5	III	19344236, 31429852	Exon 49	No
COL1A2_0702	c.3304G>C	p.Gly1102Arg	SNV	Missense	Pathogenic	<5	I, IV	18311573, 19208385, 19344236, Show More >>	Exon 49	No
COL1A2_0703	c.3304G>T	p.Gly1102Cys	SNV	Missense	Pathogenic	<5	I	19344236, 25944380	Exon 49	Yes
COL1A2_0704	c.3304G>A	p.Gly1102Ser	SNV	Missense	Pathogenic	<5	I	15241796, 19344236, 21530898, Show More >>	Exon 49	Yes
COL1A2_0705	c.3305G>T	p.Gly1102Val	SNV	Missense	Pathogenic	<5	I, III, IV	19344236, 21530898, 29499418, Show More >>	Exon 49	Yes
COL1A2_0706	c.3305G>C	p.Gly1102Ala	SNV	Missense	Pathogenic	<5	I, III, IV	19344236, 21530898, 22913777, Show More >>	Exon 49	Yes
COL1A2_0707	c.3305G>A	p.Gly1102Asp	SNV	Missense	Pathogenic	<5	I, II, IV	19344236, 21530898, 29150909, Show More >>	Exon 49	Yes
COL1A2_0708	c.3313G>A	p.Gly1105Ser	SNV	Missense	Likely Benign	<5	I, III	21667357, 24668929, 29499418, Show More >>	Exon 49	Yes
COL1A2_0709	c.3335A>T	p.Tyr1112Phe	SNV	Missense	Uncertain Significance	<5		31467126	Exon 49	No
COL1A2_0710	c.3338A>T	p.Asp1113Val	SNV	Missense	Uncertain Significance	<5		34150014	Exon 49	No
COL1A2_0711	c.3350A>G	p.Tyr1117Cys	SNV	Missense	Likely Pathogenic	<5	I, III, IV	21530898, 22913777, 26845496, Show More >>	Exon 49	Yes
COL1A2_0712	c.3355G>C	p.Ala1119Pro	SNV	Missense	Likely Pathogenic	<5		36622688	Exon 49	Yes
COL1A2_0713	c.3355G>A	p.Ala1119Thr	SNV	Missense	Pathogenic	<5	I	21344539, 24891183, 26542481, Show More >>	Exon 49	Yes
COL1A2_0714	c.3358G>C	p.Asp1120His	SNV	Missense	Likely Pathogenic	<5		29669177	Exon 49	No
COL1A2_0715	c.3358G>A	p.Asp1120Asn	SNV	Missense	Likely Pathogenic	<5		27264419, 28916840, 29669177	Exon 49	Yes
COL1A2_0716	c.3359A>T	p.Asp1120Val	SNV	Missense	Likely Pathogenic	<5	I	33070251	Exon 49	No
COL1A2_0717	c.3359A>C	p.Asp1120Ala	SNV	Missense	Likely Pathogenic	<5		21530898, 24891183, 26542481, Show More >>	Exon 49	No
COL1A2_0718	c.3359A>G	p.Asp1120Gly	SNV	Missense	Likely Pathogenic	<5		28916840, 29669177, 33716164, Show More >>	Exon 49	Yes
COL1A2_0719	c.3442A>C	p.Thr1148Pro	SNV	Missense	Uncertain Significance	<5	III	8723681	Exon 49	No
COL1A2_0720	c.3467G>A	p.Arg1156Lys	SNV	Missense	Uncertain Significance	<5	III	23869235	Exon 49	No
COL1A2_0721	c.3473A>C	p.Asn1158Thr	SNV	Missense	Uncertain Significance	<5		33470886	Exon 49	Yes
COL1A2_0722	c.3487T>C	p.Cys1163Arg	SNV	Missense	Likely Pathogenic	<5	IV	18375391, 21530898, 32482890, Show More >>	Exon 49	No
COL1A2_0723	c.3495C>G	p.Asp1165Glu	SNV	Missense	Uncertain Significance	<5	I	21530898	Exon 49	Yes
COL1A2_0724	c.3505A>T	p.Ser1169Cys	SNV	Missense	Uncertain Significance	<5		30310058, 31243143	Exon 49	No
COL1A2_0725	c.3527G>T	p.Gly1176Val	SNV	Missense	Uncertain Significance	<5	IV	18375391, 32482890	Exon 50	Yes
COL1A2_0726	c.3545C>G	p.Pro1182Arg	SNV	Missense	Likely Pathogenic	<5	IV	25146735, 32482890	Exon 50	No
COL1A2_0727	c.3583T>C	p.Cys1195Arg	SNV	Missense	Likely Pathogenic	<5	I, IV	30715774, 35250876, 35909573, Show More >>	Exon 50	Yes
COL1A2_0728	c.3584G>A	p.Cys1195Tyr	SNV	Missense	Likely Pathogenic	<5	I	16786509, 36951356	Exon 50	No
COL1A2_0729	c.3597T>A	p.Thr1199=	SNV	Silent	Likely Pathogenic	<5	I	34381850	Exon 50	No
COL1A2_0730	c.3601G>T	p.Glu1201*	SNV	Nonsense	Pathogenic	<5		15077201, 16816023, 25146735, Show More >>	Exon 50	Yes
COL1A2_0731	c.3613C>T	p.Arg1205Trp	SNV	Missense	Likely Benign	<5		27090748	Exon 50	Yes
COL1A2_0732	c.3673C>T	p.His1225Tyr	SNV	Missense	Uncertain Significance	<5		28636882	Exon 50	Yes
COL1A2_0733	c.3706A>G	p.Ser1236Gly	SNV	Missense	Uncertain Significance	<5		35723357	Exon 50	Yes
COL1A2_0734	c.3712-13C>T	Intronic	SNV	Intronic	Benign	<5			Intron 50	Yes
COL1A2_0735	c.3712-32A>C	Intronic	SNV	Intronic	Uncertain Significance	<5		26432670	Intron 50	No
COL1A2_0736	c.3733G>A	p.Val1245Met	SNV	Missense	Uncertain Significance	<5		29552444, 33064175	Exon 51	Yes
COL1A2_0737	c.3769A>G	p.Met1257Val	SNV	Missense	Uncertain Significance	<5		25456301	Exon 51	Yes
COL1A2_0738	c.3773G>A	p.Arg1258His	SNV	Missense	Uncertain Significance	<5		27748872	Exon 51	Yes
COL1A2_0739	c.3788A>G	p.Tyr1263Cys	SNV	Missense	Uncertain Significance	<5	I	25146735, 32482890	Exon 51	No
COL1A2_0740	c.3794C>G	p.Ser1265Cys	SNV	Missense	Likely Pathogenic	<5	I	30715774, 32803813	Exon 51	Yes
COL1A2_0741	c.3805A>C	p.Thr1269Pro	SNV	Missense	Uncertain Significance	<5		25146735	Exon 51	No
COL1A2_0742	c.3814T>C	p.Cys1272Arg	SNV	Missense	Likely Pathogenic	<5	III, IV	28725987, 32667677	Exon 51	Yes
COL1A2_0743	c.3815G>A	p.Cys1272Tyr	SNV	Missense	Likely Pathogenic	<5	III, IV	31414283, 36819366	Exon 51	No
COL1A2_0744	c.3815G>T	p.Cys1272Phe	SNV	Missense	Likely Pathogenic	<5	I	33070251	Exon 51	Yes
COL1A2_0745	c.3815G>C	p.Cys1272Ser	SNV	Missense	Likely Pathogenic	<5	IV	26627451	Exon 51	Yes
COL1A2_0746	c.3826A>T	p.Ile1276Phe	SNV	Missense	Uncertain Significance	<5	I	30715774	Exon 51	No
COL1A2_0747	c.3853A>C	p.Asn1285His	SNV	Missense	Uncertain Significance	<5		16786509, 31780602, 31794058	Exon 51	Yes
COL1A2_0748	c.3863del	p.Lys1288Argfs*27	Deletion	Frameshift	Uncertain Significance	<5		29946973	Exon 51	No
COL1A2_0749	c.3879G>T	p.Gln1293His	SNV	Missense	Uncertain Significance	<5		30719581	Exon 51	Yes
COL1A2_0750	c.3883T>C	p.Ser1295Pro	SNV	Missense	Uncertain Significance	<5	I	33939306	Exon 51	Yes
COL1A2_0751	c.3938T>C	p.Leu1313Pro	SNV	Missense	Uncertain Significance	<5	IV	23443412	Exon 51	Yes
COL1A2_0752	c.3944A>T	p.Asp1315Val	SNV	Missense	Likely Pathogenic	<5	IV	18375391, 32482890	Exon 51	No
COL1A2_0753	c.3952dup	p.Ser1318Phefs*2	Duplication	Frameshift	Likely Pathogenic	<5	IV	18375391, 34098919	Exon 51	No
COL1A2_0754	c.3972G>A	p.Trp1324*	SNV	Nonsense	Pathogenic	<5	I	25146735	Exon 52	No
COL1A2_0755	c.3973G>T	p.Gly1325*	SNV	Nonsense	Pathogenic	<5		37076969	Exon 52	No
COL1A2_0756	c.3974G>A	p.Gly1325Glu	SNV	Missense	Uncertain Significance	<5	IV	36709916	Exon 52	Yes
COL1A2_0757	c.3977A>G	p.Lys1326Arg	SNV	Missense	Uncertain Significance	<5	IV	35052464	Exon 52	No
COL1A2_0758	c.3994A>G	p.Lys1332Glu	SNV	Missense	Uncertain Significance	<5	I	25146735	Exon 52	No
COL1A2_0759	c.3997A>G	p.Thr1333Ala	SNV	Missense	Uncertain Significance	<5		35250876	Exon 52	No
COL1A2_0760	c.4001_4004del	p.Asn1334Serfs*34	Deletion	Frameshift	Uncertain Significance	<5		25146735, 36106514, 36613624, Show More >>	Exon 52	No
COL1A2_0761	c.4009T>C	p.Ser1337Pro	SNV	Missense	Uncertain Significance	<5		34958866	Exon 52	No
COL1A2_0762	c.4012C>T	p.Arg1338Cys	SNV	Missense	Uncertain Significance	<5		27011056	Exon 52	Yes
COL1A2_0763	c.4016T>G	p.Leu1339Arg	SNV	Missense	Uncertain Significance	<5	I	25146735	Exon 52	No
COL1A2_0764	c.4040T>A	p.Leu1347*	SNV	Nonsense	Pathogenic	<5	I	25146735	Exon 52	No
COL1A2_0765	c.4048G>A	p.Gly1350Ser	SNV	Missense	Likely Benign	<5	I	25742658, 29225276, 34098919	Exon 52	Yes
COL1A2_0766	c.4060C>T	p.Gln1354*	SNV	Nonsense	Pathogenic	<5	I	24140640	Exon 52	Yes
COL1A2_0767	c.4078A>G	p.Ile1360Val	SNV	Missense	Uncertain Significance	<5		25146735	Exon 52	Yes
COL1A2_0768	c.4082G>T	p.Gly1361Val	SNV	Missense	Likely Pathogenic	<5	I, IV	25146735, 27282461	Exon 52	No
COL1A2_0769	c.4095C>A	p.Phe1365Leu	SNV	Missense	Uncertain Significance	<5	I	21667357	Exon 52	Yes
COL1A2_0770	c.4099T>C	p.1367Glnext5	SNV	Extension	Uncertain Significance	<5	IV	16879195	Exon 52	No
COL1A2_0771	c.*156C>A	3UTR	SNV	UTR	Uncertain Significance	<5		8456809	Exon 52	No
COL1A2_0772	c.*194C>T	3UTR	SNV	UTR	Benign	<5			Exon 52	Yes

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Column Name	Table View	Detail View
Variant ID
Variant
Variant(Protein)
Gene Symbol
Times Observed
Amino Acid Change
Variant Type
Effect Type
Display Variant Classification
Variant Classification Evidence Codes
Disease Subtype
PMID
Location
Present in ClinVar
Clinvar AlleleID
Article Count
Protein Domain
Laboratory Classification Last Revised Date
Record Last Revised Date
Laboratory Classification
Predicted Variant Classification
Associated Geography
Variants Seen With

Notes:

Click the PMID number to go to the corresponding publication.
All variants are referencing NM_000089.4.
Genomic coordinates are calculated based on variant data provided: in some cases coordinates are estimated in order to allow users to sort the variants linearly, by approximation.
Don’t see a variant of interest? Contribute data through the Register Variant form.
Explore considerations about Variants of Uncertain Significance (VUS)

Definition of acronyms:

"*": Referenced a stop codon insertion when listed under amino acid change.
CNV: Copy number variant which here describes a change 100 DNA nucleotides or larger.
SNV: Single DNA nucleotide variant
del: Deletion
dup: Duplication
fs: Frameshift
ins: Insertion

References:

Jovanovic M, Guterman-Ram G, and Marini JC. Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types. Endocr Rev. 2022; 43(1):61–90.
Marini JC, Dang Do AN. Osteogenesis Imperfecta. [Updated 2020 Jul 26]. In: Feingold KR, Ahmed SF, Anawalt B, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK279109/
COL1A2 [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [cited 2025 October 6]. Available from: https://www.ncbi.nlm.nih.gov/gene/1278.
Stelzer, G., Rosen, N., Plaschkes, I., Zimmerman, S., Twik, M., Fishilevich, S., Iny Stein, T., Nudel, R., Lieder, I., Mazor, Y., Kaplan, S., Dahary, D., Warshawsky, D., Guan-Golan, Y., Kohn, A., Rappaport, N., Safran, M., & Lancet, D. (2016). The GeneCards Suite: From Gene Data Mining to Disease Genome Sequence Analyses. In Current Protocols in Bioinformatics (54:1.30.1 - 1.30.33). Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=COL1A2&keywords=COL1A2.

Osteogenesis Imperfecta

Introduction

Variant List

Gene Structure

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