COL1A1

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].

COL1A1 is located on chromosome 17q21.33 and contains 51 exons spanning ~18kb, and encodes a 1464 amino acid protein [3,4]. The primary functional domain of COL1A1 is a triple-helical domain, which allows two alpha 1 chains to pair with one alpha 2 chain, encoded by COL1A2, 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	Disease Subtype	Times Observed	PMID	Location	Present in ClinVar

COL1A1_0001	c.-98G>A	5UTR	SNV	UTR	Benign		<5		Exon 1	Yes
COL1A1_0002	c.1_25del	p.Met1_?9	Deletion	Initiator codon	Pathogenic		<5	25696019, 31447884, 36338653	Exon 1	No
COL1A1_0003	c.1del	p.Met1?	Deletion	Initiator codon	Pathogenic		<5	25696019, 31447884, 36338653	Exon 1	No
COL1A1_0004	c.1A>G	p.Met1?	SNV	Initiator codon	Pathogenic		<5	25696019, 31447884, 36338653	Exon 1	Yes
COL1A1_0005	c.1A>C	p.Met1?	SNV	Initiator codon	Pathogenic		<5	25696019, 31447884, 36338653	Exon 1	Yes
COL1A1_0006	c.2T>C	p.Met1?	SNV	Initiator codon	Pathogenic		<5	25696019, 31447884, 36338653	Exon 1	Yes
COL1A1_0007	c.2del	p.Met1?	Deletion	Initiator codon	Pathogenic		<5	25696019, 31447884, 36338653	Exon 1	No
COL1A1_0008	c.38T>G	p.Leu13*	SNV	Nonsense	Pathogenic	I	<5	25086671	Exon 1	No
COL1A1_0009	c.62A>C	p.His21Pro	SNV	Missense	Uncertain Significance	III	<5	30715774	Exon 1	No
COL1A1_0010	c.64G>A	p.Gly22Ser	SNV	Missense	Uncertain Significance		<5	33252176	Exon 1	No
COL1A1_0011	c.64G>C	p.Gly22Arg	SNV	Missense	Pathogenic	II	<5	16786509, 29101475, 30450527, Show More >>	Exon 1	Yes
COL1A1_0012	c.65_70del	p.Gly22_Gln23del	Deletion	Deletion	Likely Pathogenic	III	<5	25944380, 29101475	Exon 1	No
COL1A1_0013	c.67C>T	p.Gln23*	SNV	Nonsense	Pathogenic	I	<5	28725987	Exon 1	No
COL1A1_0014	c.74_77del	p.Glu25Alafs*48	Deletion	Frameshift	Pathogenic	I	<5	33070251	Exon 1	No
COL1A1_0015	c.77G>A	p.Gly26Asp	SNV	Missense	Uncertain Significance	I	<5	21884818, 33470886, 34107839	Exon 1	Yes
COL1A1_0016	c.81del	p.Val28Serfs*46	Deletion	Frameshift	Pathogenic		<5	26863094	Exon 1	No
COL1A1_0017	c.100G>A	p.Asp34Asn	SNV	Missense	Uncertain Significance	I	<5	21341209, 21863547	Exon 1	No
COL1A1_0018	c.103+2T>G	Intronic	SNV	Splice donor	Pathogenic	I	<5	30715774	Intron 1	No
COL1A1_0019	c.103+1G>A	Intronic	SNV	Splice donor	Pathogenic	I	<5	15241796, 35611473	Intron 1	No
COL1A1_0020	c.103+5G>C	Intronic	SNV	Splice region	Uncertain Significance	I	<5	37715362	Intron 1	Yes
COL1A1_0021	c.103+2T>C	Intronic	SNV	Splice donor	Pathogenic	I, IV	<5	27519266	Intron 1	Yes
COL1A1_0022	c.104-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	IV	<5	25742658, 30715774	Intron 1	No
COL1A1_0023	c.104-13_104-12delinsAA	Intronic	Delins	Intronic	Uncertain Significance		<5	27090748	Intron 1	No
COL1A1_0024	c.104-441G>T	Intronic	SNV	Intronic	Benign		<5		Intron 1	Yes
COL1A1_0025	c.104-2A>G	Intronic	SNV	Splice acceptor	Pathogenic		<5	30684648	Intron 1	Yes
COL1A1_0026	c.104-3C>G	Intronic	SNV	Splice region	Uncertain Significance	I	<5	15241796	Intron 1	No
COL1A1_0027	c.104-1G>T	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	25963598	Intron 1	Yes
COL1A1_0028	c.108del	p.Pro37Glnfs*37	Deletion	Frameshift	Pathogenic		<5	37908991	Exon 2	Yes
COL1A1_0029	c.108_109dup	p.Pro37Hisfs*38	Duplication	Frameshift	Pathogenic		<5	37908991	Exon 2	No
COL1A1_0030	c.120C>A	p.Cys40*	SNV	Nonsense	Pathogenic	I, III	<5	36709916, 38828893	Exon 2	Yes
COL1A1_0031	c.133C>G	p.Leu45Val	SNV	Missense	Uncertain Significance	III	<5	34025714, 34107839	Exon 2	Yes
COL1A1_0032	c.141C>G	p.Tyr47*	SNV	Nonsense	Pathogenic		<5	27132807, 29344653, 36951356	Exon 2	Yes
COL1A1_0033	c.141C>A	p.Tyr47*	SNV	Nonsense	Pathogenic		<5	27132807, 29344653, 36951356	Exon 2	No
COL1A1_0034	c.143dup	p.His48Glnfs*2	Duplication	Frameshift	Pathogenic		<5	27748872, 28725987	Exon 2	No
COL1A1_0035	c.144del	p.His48Glnfs*26	Deletion	Frameshift	Pathogenic		<5	27748872, 28725987	Exon 2	No
COL1A1_0036	c.148C>T	p.Arg50*	SNV	Nonsense	Pathogenic	I, IV	<5	28725987, 30715774, 33475155, Show More >>	Exon 2	Yes
COL1A1_0037	c.157_158del	p.Trp53Glufs*19	Deletion	Frameshift	Pathogenic		<5	27748872	Exon 2	No
COL1A1_0038	c.159G>C	p.Trp53Cys	SNV	Missense	Uncertain Significance		<5	30138938	Exon 2	No
COL1A1_0039	c.174C>A	p.Cys58*	SNV	Nonsense	Pathogenic	I	<5	29344653, 30715774, 33470886	Exon 2	No
COL1A1_0040	c.175C>T	p.Arg59Trp	SNV	Missense	Uncertain Significance	III	<5	30715774	Exon 2	No
COL1A1_0041	c.177G>T	p.Arg59=	SNV	Silent	Benign		<5		Exon 2	Yes
COL1A1_0042	c.177G>C	p.Arg59=	SNV	Silent	Benign		<5		Exon 2	No
COL1A1_0043	c.177_179delinsAG	p.Ile60Alafs*14	Delins	Frameshift	Pathogenic	I	<5	30715774	Exon 2	No
COL1A1_0044	c.178A>T	p.Ile60Phe	SNV	Missense	Uncertain Significance	I	<5	30715774	Exon 2	Yes
COL1A1_0045	c.182G>C	p.Cys61Ser	SNV	Missense	Likely Pathogenic		<5	17018525	Exon 2	No
COL1A1_0046	c.182G>T	p.Cys61Phe	SNV	Missense	Likely Pathogenic	I, III	<5	21667357, 27132807, 29344653	Exon 2	No
COL1A1_0047	c.187T>A	p.Cys63Ser	SNV	Missense	Likely Pathogenic	III	<5	30715774, 36734182	Exon 2	No
COL1A1_0048	c.189C>A	p.Cys63*	SNV	Nonsense	Pathogenic	I	<5	27335225, 29150909, 29344653, Show More >>	Exon 2	Yes
COL1A1_0049	c.198_204dup	p.Leu69Glnfs*6	Duplication	Frameshift	Pathogenic		<5	24767406, 28396251, 29344653, Show More >>	Exon 2	No
COL1A1_0050	c.199A>T	p.Lys67*	SNV	Nonsense	Pathogenic	I	<5	29344653	Exon 2	No
COL1A1_0051	c.206_208del	p.Leu69del	Deletion	Deletion	Likely Pathogenic	I	<5	31568717, 37076969	Exon 2	No
COL1A1_0052	c.206del	p.Leu69Cysfs*5	Deletion	Frameshift	Pathogenic		<5	24767406, 28396251, 29344653, Show More >>	Exon 2	No
COL1A1_0053	c.210C>A	p.Cys70*	SNV	Nonsense	Pathogenic		<5	33939306	Exon 2	Yes
COL1A1_0054	c.212del	p.Asp71Valfs*3	Deletion	Frameshift	Pathogenic		<5	30715774	Exon 2	No
COL1A1_0055	c.212dup	p.Asp71Glufs*2	Duplication	Frameshift	Pathogenic		<5	30715774	Exon 2	Yes
COL1A1_0056	c.229G>A	p.Glu77Lys	SNV	Missense	Uncertain Significance		<5		Exon 2	Yes
COL1A1_0057	c.231del	p.Thr78Profs*187	Deletion	Frameshift	Pathogenic	I	<5	29543922, 37895885	Exon 2	No
COL1A1_0058	c.243C>A	p.Cys81*	SNV	Nonsense	Likely Pathogenic		<5	24147872	Exon 2	Yes
COL1A1_0059	c.246del	p.Gly83Alafs*182	Deletion	Frameshift	Pathogenic		<5	15241796, 29344653, 30715774	Exon 2	No
COL1A1_0060	c.247_248insAAGGACT	p.Gly83Glufs*88	Insertion	Frameshift	Pathogenic		<5	15241796, 29344653, 30715774	Exon 2	No
COL1A1_0061	c.249_252dup	p.Glu85Argfs*85	Duplication	Frameshift	Likely Pathogenic		<5	31039433	Exon 2	Yes
COL1A1_0062	c.253G>T	p.Glu85*	SNV	Nonsense	Pathogenic		<5	29499418	Exon 2	No
COL1A1_0063	c.253dup	p.Glu85Glyfs*84	Duplication	Frameshift	Likely Pathogenic		<5	31039433	Exon 2	No
COL1A1_0064	c.262G>T	p.Glu88*	SNV	Nonsense	Pathogenic	I	<5	30715774	Exon 2	Yes
COL1A1_0065	c.266G>T	p.Gly89Val	SNV	Missense	Uncertain Significance	III, IV	<5	29344653	Exon 2	No
COL1A1_0066	c.266delinsCGCCGTCCCGGGGA	p.Gly89Alafs*84	Delins	Frameshift	Pathogenic	I	<5	29344653	Exon 2	No
COL1A1_0067	c.268G>T	p.Glu90*	SNV	Nonsense	Pathogenic	I	<5	27748872, 33775700	Exon 2	Yes
COL1A1_0068	c.276del	p.Val94Serfs*171	Deletion	Frameshift	Pathogenic		<5	30715774	Exon 2	No
COL1A1_0069	c.279del	p.Val94Serfs*171	Deletion	Frameshift	Pathogenic		<5	30715774	Exon 2	No
COL1A1_0070	c.281T>A	p.Val94Asp	SNV	Missense	Likely Pathogenic	IV	<5	29344653, 36951356	Exon 2	No
COL1A1_0071	c.285C>A	p.Cys95*	SNV	Nonsense	Pathogenic	I	<5	29344653	Exon 2	Yes
COL1A1_0072	c.288del	p.Asp97Thrfs*168	Deletion	Frameshift	Pathogenic		<5	30614853	Exon 2	No
COL1A1_0073	c.288dup	p.Asp97Argfs*72	Duplication	Frameshift	Pathogenic		<5	30614853	Exon 2	No
COL1A1_0074	c.291del	p.Asp97Glufs*168	Deletion	Frameshift	Pathogenic		<5	30614853	Exon 2	Yes
COL1A1_0075	c.299-9G>T	Intronic	SNV	Intronic	Uncertain Significance		<5	36396825	Intron 2	Yes
COL1A1_0076	c.299-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	I, IV	<5	25963598, 28725987	Intron 2	Yes
COL1A1_0077	c.299-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	25963598, 30715774	Intron 2	Yes
COL1A1_0078	c.299_300del	p.Glu100Valfs*68	Deletion	Frameshift	Pathogenic		<5	15241796, 36951356	Exon 3	No
COL1A1_0079	c.299-5_313del	Intronic	Deletion	Splice acceptor	Pathogenic	I	<5	29344653	Intron 2	No
COL1A1_0080	c.299-1G>C	Intronic	SNV	Splice acceptor	Pathogenic	I, IV	<5	25963598, 28810924, 29344653, Show More >>	Intron 2	Yes
COL1A1_0081	c.299_300insC	p.Glu100Aspfs*69	Insertion	Frameshift	Pathogenic		<5	15241796, 36951356	Exon 3	No
COL1A1_0082	c.299-20C>G	Intronic	SNV	Intronic	Benign		<5		Intron 2	Yes
COL1A1_0083	c.309del	p.Asp104Thrfs*161	Deletion	Frameshift	Pathogenic		<5	30715774	Exon 3	No
COL1A1_0084	c.310_313del	p.Asp104Lysfs*160	Deletion	Frameshift	Pathogenic		<5	30715774	Exon 3	No
COL1A1_0085	c.312_313insA	p.Gln105Thrfs*64	Insertion	Frameshift	Pathogenic		<5	21667357	Exon 3	No
COL1A1_0086	c.314_324del	p.Gln105Argfs*60	Deletion	Frameshift	Pathogenic		<5	21667357	Exon 3	No
COL1A1_0087	c.316G>T	p.Glu106*	SNV	Nonsense	Pathogenic		<5	32123938	Exon 3	Yes
COL1A1_0088	c.326G>A	p.Gly109Asp	SNV	Missense	Likely Pathogenic		<5	23692737, 31218159, 31794058, Show More >>	Exon 3	Yes
COL1A1_0089	c.333_333+1delinsTC	Intronic	Delins	Splice donor	Pathogenic	I	<5	15024745	Exon 3	No
COL1A1_0090	c.333G>T	p.Glu111Asp	SNV	Missense	Uncertain Significance		<5	37715362	Exon 3	No
COL1A1_0091	c.333+3A>T	Intronic	SNV	Splice region	Uncertain Significance	I	<5	37715362	Intron 3	Yes
COL1A1_0092	c.333G>C	p.Glu111Asp	SNV	Missense	Uncertain Significance		<5	37715362	Exon 3	No
COL1A1_0093	c.333+2T>C	Intronic	SNV	Splice donor	Pathogenic	I	<5	15241796, 39717845	Intron 3	Yes
COL1A1_0094	c.333+1G>A	Intronic	SNV	Splice donor	Pathogenic	IV	<5	30715774	Intron 3	Yes
COL1A1_0095	c.334-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	15241796	Intron 3	No
COL1A1_0096	c.334-9A>G	Intronic	SNV	Intronic	Uncertain Significance	I	<5	25963598, 26627451, 31363794, Show More >>	Intron 3	Yes
COL1A1_0097	c.334-1G>A	Intronic	SNV	Splice acceptor	Likely Pathogenic	IV	<5	31447884	Intron 3	Yes
COL1A1_0098	c.336_361dup	p.Gly121Aspfs*153	Duplication	Frameshift	Pathogenic	I	<5	37293821	Exon 4	No
COL1A1_0099	c.343G>T	p.Gly115*	SNV	Nonsense	Pathogenic		<5	33446253	Exon 4	No
COL1A1_0100	c.344G>A	p.Gly115Glu	SNV	Missense	Likely Benign		<5	36580209	Exon 4	Yes
COL1A1_0101	c.358C>T	p.Arg120*	SNV	Nonsense	Pathogenic	I	<5	30715774, 35052464	Exon 4	Yes
COL1A1_0102	c.370-2A>G	Intronic	SNV	Splice acceptor	Pathogenic		<5	34449476	Intron 4	Yes
COL1A1_0103	c.370-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	21667357, 30715774, 31447884	Intron 4	Yes
COL1A1_0104	c.370-9C>T	Intronic	SNV	Intronic	Uncertain Significance	III	<5	30715774, 31737030	Intron 4	Yes
COL1A1_0105	c.370-2A>T	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	37715362	Intron 4	Yes
COL1A1_0106	c.371del	p.Gly124Aspfs*141	Deletion	Frameshift	Pathogenic	I	<5	35044492	Exon 5	No
COL1A1_0107	c.375dup	p.Ala126Argfs*43	Duplication	Frameshift	Pathogenic	I	<5	35052464	Exon 5	No
COL1A1_0108	c.386del	p.Pro129Leufs*136	Deletion	Frameshift	Pathogenic	I, IV	<5	16786509, 30715774, 37810882	Exon 5	No
COL1A1_0109	c.386dup	p.Gly130Trpfs*39	Duplication	Frameshift	Pathogenic		<5	16786509, 26627451, 31363794, Show More >>	Exon 5	No
COL1A1_0110	c.387del	p.Gly130Alafs*135	Deletion	Frameshift	Pathogenic		<5	16786509, 26627451, 31363794, Show More >>	Exon 5	Yes
COL1A1_0111	c.389_390insA	p.Arg131Profs*38	Insertion	Frameshift	Pathogenic		<5	15241796	Exon 5	No
COL1A1_0112	c.390_391insA	p.Arg131Thrfs*38	Insertion	Frameshift	Pathogenic		<5	15241796	Exon 5	No
COL1A1_0113	c.391C>T	p.Arg131*	SNV	Nonsense	Pathogenic	I, IV	<5	26627451, 27132807, 27335225	Exon 5	Yes
COL1A1_0114	c.391del	p.Arg131Glufs*134	Deletion	Frameshift	Pathogenic		<5	15241796	Exon 5	No
COL1A1_0115	c.392G>C	p.Arg131Pro	SNV	Missense	Uncertain Significance	IV	<5	34107839	Exon 5	No
COL1A1_0116	c.407dup	p.Gln137Thrfs*32	Duplication	Frameshift	Pathogenic		<5	35052464	Exon 5	No
COL1A1_0117	c.410_413del	p.Gln137Leufs*127	Deletion	Frameshift	Pathogenic		<5	35052464	Exon 5	No
COL1A1_0118	c.416_419del	p.Gly139Valfs*125	Deletion	Frameshift	Pathogenic	I	<5	30715774	Exon 5	No
COL1A1_0119	c.423del	p.Gly142Aspfs*123	Deletion	Frameshift	Pathogenic		<5	36896471	Exon 5	No
COL1A1_0120	c.423_433delinsT	p.Gly142Aspfs*120	Delins	Frameshift	Pathogenic		<5	36896471	Exon 5	No
COL1A1_0121	c.432dup	p.Gly145Argfs*24	Duplication	Frameshift	Pathogenic		<5	16786509, 22753364, 27748872, Show More >>	Exon 5	No
COL1A1_0122	c.432del	p.Gly145Aspfs*120	Deletion	Frameshift	Pathogenic		<5	16786509, 22753364, 27748872, Show More >>	Exon 5	No
COL1A1_0123	c.436C>A	p.Pro146Thr	SNV	Missense	Uncertain Significance	II	<5	18996919, 28748566, 33161638	Exon 5	Yes
COL1A1_0124	c.440_441insT	p.Gly148Argfs*21	Insertion	Frameshift	Pathogenic		<5	21667357, 26627451, 26694865, Show More >>	Exon 5	No
COL1A1_0125	c.441del	p.Gly148Aspfs*117	Deletion	Frameshift	Pathogenic		<5	21667357, 26627451, 26694865, Show More >>	Exon 5	No
COL1A1_0126	c.441dup	p.Gly148Argfs*21	Duplication	Frameshift	Pathogenic		<5	21667357, 26627451, 26694865, Show More >>	Exon 5	No
COL1A1_0127	c.441_442insA	p.Gly148Argfs*21	Insertion	Frameshift	Pathogenic		<5	21667357, 26627451, 26694865, Show More >>	Exon 5	No
COL1A1_0128	c.449_465del	p.Pro150Argfs*13	Deletion	Frameshift	Pathogenic	I	<5	33070251	Exon 5	No
COL1A1_0129	c.452G>A	p.Gly151Glu	SNV	Missense	Uncertain Significance		<5	38715223	Exon 5	No
COL1A1_0130	c.455C>T	p.Pro152Leu	SNV	Missense	Uncertain Significance		<5	39397634	Exon 5	Yes
COL1A1_0131	c.458dup	p.Gly154Trpfs*15	Duplication	Frameshift	Pathogenic		<5	15024745, 31447884, 32166892, Show More >>	Exon 5	No
COL1A1_0132	c.459del	p.Gly154Alafs*111	Deletion	Frameshift	Pathogenic		<5	15024745, 31447884, 32166892, Show More >>	Exon 5	Yes
COL1A1_0133	c.461G>T	p.Gly154Val	SNV	Missense	Uncertain Significance		<5	27484908	Exon 5	No
COL1A1_0134	c.462C>T	p.Gly154=	SNV	Silent	Benign		<5		Exon 5	Yes
COL1A1_0135	c.471+1G>A	Intronic	SNV	Splice donor	Pathogenic	I	<5	16786509, 28901398	Intron 5	Yes
COL1A1_0136	c.471+195T>C	Intronic	SNV	Intronic	Benign		<5		Intron 5	No
COL1A1_0137	c.472-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	32091183, 36435507, 9443882	Intron 5	No
COL1A1_0138	c.472-1G>T	Intronic	SNV	Splice acceptor	Pathogenic		<5	35128800	Intron 5	Yes
COL1A1_0139	c.472-1G>C	Intronic	SNV	Splice acceptor	Pathogenic		<5	32338564	Intron 5	Yes
COL1A1_0140	c.472-2A>T	Intronic	SNV	Splice acceptor	Pathogenic		<5	18409203, 24440294	Intron 5	Yes
COL1A1_0141	c.472-1G>A	Intronic	SNV	Splice acceptor	Pathogenic		<5	24440294, 31218159, 32091183, Show More >>	Intron 5	Yes
COL1A1_0142	c.477dup	p.Ala160Cysfs*9	Duplication	Frameshift	Pathogenic	IV	<5	26627451	Exon 6	No
COL1A1_0143	c.484C>T	p.Gln162*	SNV	Nonsense	Pathogenic		<5	27748872, 39717845	Exon 6	No
COL1A1_0144	c.485A>C	p.Gln162Pro	SNV	Missense	Uncertain Significance		<5	32091183, 36435507	Exon 6	No
COL1A1_0145	c.495T>A	p.Tyr165*	SNV	Nonsense	Pathogenic		<5	31363794, 31447884, 33154166, Show More >>	Exon 6	No
COL1A1_0146	c.495T>G	p.Tyr165*	SNV	Nonsense	Pathogenic		<5	31363794, 31447884, 33154166, Show More >>	Exon 6	No
COL1A1_0147	c.505G>A	p.Glu169Lys	SNV	Missense	Uncertain Significance	I	<5	28810924	Exon 6	No
COL1A1_0148	c.517G>T	p.Gly173*	SNV	Nonsense	Pathogenic	I	<5	37929041	Exon 6	Yes
COL1A1_0149	c.517G>A	p.Gly173Arg	SNV	Missense	Uncertain Significance		<5	26432670, 35723357	Exon 6	Yes
COL1A1_0150	c.517G>C	p.Gly173Arg	SNV	Missense	Uncertain Significance		<5	26432670, 35723357	Exon 6	No
COL1A1_0151	c.529G>A	p.Val177Met	SNV	Missense	Uncertain Significance		<5	32214361	Exon 6	Yes
COL1A1_0152	c.533del	p.Pro178Leufs*87	Deletion	Frameshift	Pathogenic	I	<5	15241796	Exon 6	No
COL1A1_0153	c.540del	p.Met181Trpfs*84	Deletion	Frameshift	Pathogenic		<5	25324685, 28453375, 35693066, Show More >>	Exon 6	No
COL1A1_0154	c.540dup	p.Met181Hisfs*27	Duplication	Frameshift	Pathogenic		<5	25324685, 28453375, 35693066, Show More >>	Exon 6	No
COL1A1_0155	c.543G>A	p.Met181Ile	SNV	Missense	Pathogenic		<5	1867198, 24440294, 2767050, Show More >>	Exon 6	Yes
COL1A1_0156	c.543+1G>A	Intronic	SNV	Splice donor	Pathogenic		<5	38715223	Intron 6	Yes
COL1A1_0157	c.543+5G>A	Intronic	SNV	Splice region	Pathogenic	I	<5	25963598, 39521787	Intron 6	Yes
COL1A1_0158	c.544G>A	p.Gly182Ser	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 7	No
COL1A1_0159	c.544-1G>A	Intronic	SNV	Splice acceptor	Pathogenic		<5	39586789	Intron 6	No
COL1A1_0160	c.545G>T	p.Gly182Val	SNV	Missense	Likely Pathogenic		<5	19344236, 31039433, 35119775	Exon 7	Yes
COL1A1_0161	c.554G>T	p.Gly185Val	SNV	Missense	Likely Pathogenic		<5	19344236, 31039433	Exon 7	No
COL1A1_0162	c.559del	p.Arg187Valfs*78	Deletion	Frameshift	Pathogenic	I	<5	35822426	Exon 7	No
COL1A1_0163	c.563G>A	p.Gly188Asp	SNV	Missense	Likely Pathogenic		<5	19344236, 23692737, 29552444, Show More >>	Exon 7	Yes
COL1A1_0164	c.569del	p.Pro190Leufs*75	Deletion	Frameshift	Pathogenic		<5	27748872	Exon 7	No
COL1A1_0165	c.571G>T	p.Gly191Cys	SNV	Missense	Likely Pathogenic		<5	19344236, 35822426	Exon 7	No
COL1A1_0166	c.572G>A	p.Gly191Asp	SNV	Missense	Pathogenic	IV	<5	15728585, 19344236, 22589248, Show More >>	Exon 7	Yes
COL1A1_0167	c.572G>T	p.Gly191Val	SNV	Missense	Likely Pathogenic		<5	19344236, 35822426	Exon 7	Yes
COL1A1_0168	c.572G>C	p.Gly191Ala	SNV	Missense	Likely Pathogenic		<5	19344236, 23692737, 29709596, Show More >>	Exon 7	Yes
COL1A1_0169	c.572del	p.Gly191Alafs*74	Deletion	Frameshift	Pathogenic	I	<5	36709916	Exon 7	No
COL1A1_0170	c.573_574delinsG	p.Pro193Leufs*72	Delins	Frameshift	Pathogenic		<5	27748872, 32282353, 39717845	Exon 7	No
COL1A1_0171	c.577_578del	p.Pro193Trpfs*14	Deletion	Frameshift	Pathogenic		<5	27748872, 32282353, 39717845	Exon 7	No
COL1A1_0172	c.578dup	p.Gly194Trpfs*14	Duplication	Frameshift	Pathogenic		<5	16879195, 19358256, 21667357, Show More >>	Exon 7	No
COL1A1_0173	c.578del	p.Pro193Leufs*72	Deletion	Frameshift	Pathogenic		<5	27748872, 32282353, 39717845	Exon 7	No
COL1A1_0174	c.579del	p.Gly194Valfs*71	Deletion	Frameshift	Pathogenic		<5	16879195, 19358256, 21667357, Show More >>	Exon 7	Yes
COL1A1_0175	c.580G>C	p.Gly194Arg	SNV	Missense	Likely Pathogenic	I	<5	16705691, 19344236	Exon 7	Yes
COL1A1_0176	c.581G>T	p.Gly194Val	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 36709916	Exon 7	Yes
COL1A1_0177	c.581G>C	p.Gly194Ala	SNV	Missense	Pathogenic	I	<5	19344236, 22753364, 31794058, Show More >>	Exon 7	No
COL1A1_0178	c.581G>A	p.Gly194Asp	SNV	Missense	Pathogenic	I, III, IV	<5	19344236, 28116328, 32667677	Exon 7	Yes
COL1A1_0179	c.584C>T	p.Ala195Val	SNV	Missense	Uncertain Significance		<5	27011056	Exon 7	No
COL1A1_0180	c.588+1G>A	Intronic	SNV	Splice donor	Likely Pathogenic	I	<5	25963598, 33470886, 37715362	Intron 7	Yes
COL1A1_0181	c.588+4A>T	Intronic	SNV	Splice region	Likely Pathogenic		<5	15728585, 29552444, 34484741	Intron 7	No
COL1A1_0182	c.588+5G>A	Intronic	SNV	Splice region	Pathogenic	I	<5	25963598, 30715774	Intron 7	Yes
COL1A1_0183	c.588+33T>C	Intronic	SNV	Intronic	Benign		<5		Intron 7	Yes
COL1A1_0184	c.588+1G>T	Intronic	SNV	Splice donor	Pathogenic	IV	<5	28725987	Intron 7	No
COL1A1_0185	c.589-1G>T	Intronic	SNV	Splice acceptor	Pathogenic		<5	28967166, 37715362	Intron 7	No
COL1A1_0186	c.589-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	16786509	Intron 7	Yes
COL1A1_0187	c.589G>T	p.Gly197Cys	SNV	Missense	Likely Pathogenic		<5	1737847, 19344236, 24273577, Show More >>	Exon 8	Yes
COL1A1_0188	c.589G>C	p.Gly197Arg	SNV	Missense	Likely Pathogenic	IV	<5	16786509, 19344236	Exon 8	Yes
COL1A1_0189	c.590G>A	p.Gly197Asp	SNV	Missense	Pathogenic	I, III	<5	19344236, 26627451, 27519266, Show More >>	Exon 8	Yes
COL1A1_0190	c.590G>T	p.Gly197Val	SNV	Missense	Likely Pathogenic		<5	19344236, 30715774	Exon 8	Yes
COL1A1_0191	c.?	p.Gln199_Pro211dup		Duplication	Likely Pathogenic		<5	19344236, 26010070	Exon 8	Unknown
COL1A1_0192	c.595del	p.Gln199Lysfs*66	Deletion	Frameshift	Pathogenic		<5	29946973	Exon 8	No
COL1A1_0193	c.598G>A	p.Gly200Ser	SNV	Missense	Likely Pathogenic	I	<5	19344236, 33470886	Exon 8	Yes
COL1A1_0194	c.599G>T	p.Gly200Val	SNV	Missense	Pathogenic	I, III, IV	<5	18670065, 19344236, 24273577, Show More >>	Exon 8	Yes
COL1A1_0195	c.599G>C	p.Gly200Ala	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 8	No
COL1A1_0196	c.604C>T	p.Gln202*	SNV	Nonsense	Pathogenic	I	<5	30614853	Exon 8	No
COL1A1_0197	c.607G>A	p.Gly203Ser	SNV	Missense	Likely Pathogenic	I	<5	19344236, 21667357	Exon 8	Yes
COL1A1_0198	c.607G>T	p.Gly203Cys	SNV	Missense	Pathogenic	I	<5	19344236, 23692737, 29552444, Show More >>	Exon 8	No
COL1A1_0199	c.608G>T	p.Gly203Val	SNV	Missense	Pathogenic	III, IV	<5	15728585, 16879195, 18798308, Show More >>	Exon 8	Yes
COL1A1_0200	c.608G>A	p.Gly203Asp	SNV	Missense	Likely Pathogenic	II	<5	19344236, 30886339	Exon 8	Yes
COL1A1_0201	c.613C>G	p.Pro205Ala	SNV	Missense	Benign		<5		Exon 8	Yes
COL1A1_0202	c.614del	p.Pro205Leufs*60	Deletion	Frameshift	Pathogenic	I	<5	15241796, 30684648	Exon 8	No
COL1A1_0203	c.614dup	p.Gly206Trpfs*2	Duplication	Frameshift	Pathogenic	I	<5	30715774	Exon 8	No
COL1A1_0204	c.616G>A	p.Gly206Ser	SNV	Missense	Pathogenic	I	<5	19344236, 33470886	Exon 8	No
COL1A1_0205	c.617G>A	p.Gly206Asp	SNV	Missense	Likely Pathogenic		<5	19344236, 29552444	Exon 8	No
COL1A1_0206	c.625G>A	p.Gly209Ser	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 8	Yes
COL1A1_0207	c.626G>C	p.Gly209Ala	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 8	Yes
COL1A1_0208	c.626G>A	p.Gly209Asp	SNV	Missense	Pathogenic	I, III, IV	<5	19344236, 24668929, 30715774, Show More >>	Exon 8	Yes
COL1A1_0209	c.629del	p.Glu210Glyfs*55	Deletion	Frameshift	Pathogenic		<5	27519266	Exon 8	No
COL1A1_0210	c.630del	p.Glu210Aspfs*55	Deletion	Frameshift	Pathogenic		<5	27519266	Exon 8	No
COL1A1_0211	c.633del	p.Gly212Glufs*53	Deletion	Frameshift	Pathogenic		<5	33255631	Exon 8	No
COL1A1_0212	c.634G>A	p.Gly212Arg	SNV	Missense	Likely Pathogenic		<5	15728585, 19344236, 29552444, Show More >>	Exon 8	Yes
COL1A1_0213	c.634G>C	p.Gly212Arg	SNV	Missense	Likely Pathogenic		<5	15728585, 19344236, 29552444, Show More >>	Exon 8	No
COL1A1_0214	c.635G>A	p.Gly212Glu	SNV	Missense	Pathogenic	IV	<5	19344236, 21667357, 30715774, Show More >>	Exon 8	Yes
COL1A1_0215	c.642+1G>T	Intronic	SNV	Splice donor	Likely Pathogenic	IV	<5	25963598	Intron 8	Yes
COL1A1_0216	c.642+16A>G	Intronic	SNV	Intronic	Uncertain Significance		<5	39276275	Intron 8	Yes
COL1A1_0217	c.642+4del	Intronic	Deletion	Splice region	Likely Pathogenic	IV	<5	31737030	Intron 8	No
COL1A1_0218	c.642+5G>T	Intronic	SNV	Splice region	Uncertain Significance	IV	<5	30715774	Intron 8	No
COL1A1_0219	c.642+5G>A	Intronic	SNV	Splice region	Uncertain Significance	I, III	<5	16705691, 24668929	Intron 8	No
COL1A1_0220	c.642+1G>A	Intronic	SNV	Splice donor	Likely Pathogenic	III, IV	<5	10417276, 25963598, 26627451, Show More >>	Intron 8	Yes
COL1A1_0221	c.642+1G>C	Intronic	SNV	Splice donor	Pathogenic		<5	33939306	Intron 8	No
COL1A1_0222	c.642+18A>C	Intronic	SNV	Intronic	Benign		<5		Intron 8	Yes
COL1A1_0223	c.642+25T>C	Intronic	SNV	Intronic	Benign		<5		Intron 8	Yes
COL1A1_0224	c.643-13_662del	Intronic	Deletion	Splice acceptor	Pathogenic	I	<5	28725987	Intron 8	No
COL1A1_0225	c.643G>A	p.Gly215Ser	SNV	Missense	Pathogenic		<5	19344236, 24311407, 27011056, Show More >>	Exon 9	Yes
COL1A1_0226	c.643-2A>G	Intronic	SNV	Splice acceptor	Pathogenic		<5	22913777, 27748872, 32123938, Show More >>	Intron 8	Yes
COL1A1_0227	c.643-36del	Intronic	Deletion	Intronic	Benign		<5		Intron 8	No
COL1A1_0228	c.643G>C	p.Gly215Arg	SNV	Missense	Likely Pathogenic	I	<5	19344236, 24311407	Exon 9	No
COL1A1_0229	c.644G>A	p.Gly215Asp	SNV	Missense	Pathogenic	III	<5	19344236, 33070251, 35855989, Show More >>	Exon 9	Yes
COL1A1_0230	c.649A>T	p.Met217Leu	SNV	Missense	Uncertain Significance		<5		Exon 9	Yes
COL1A1_0231	c.649_658del	p.Met217Glufs*45	Deletion	Frameshift	Pathogenic	I	<5	25086671	Exon 9	No
COL1A1_0232	c.649A>C	p.Met217Leu	SNV	Missense	Uncertain Significance		<5		Exon 9	No
COL1A1_0233	c.652G>A	p.Gly218Ser	SNV	Missense	Likely Pathogenic	I	<5	19344236, 30614853	Exon 9	No
COL1A1_0234	c.653G>T	p.Gly218Val	SNV	Missense	Likely Pathogenic	III	<5	19344236, 30614853	Exon 9	Yes
COL1A1_0235	c.653G>A	p.Gly218Asp	SNV	Missense	Pathogenic	I, IV	<5	19344236, 31447884, 32166892	Exon 9	No
COL1A1_0236	c.658C>T	p.Arg220*	SNV	Nonsense	Pathogenic	I, IV	<5	21667357, 22753364, 24296239, Show More >>	Exon 9	Yes
COL1A1_0237	c.661G>T	p.Gly221Cys	SNV	Missense	Likely Pathogenic		<5	1737847, 19344236, 24273577, Show More >>	Exon 9	Yes
COL1A1_0238	c.661G>A	p.Gly221Ser	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 9	Yes
COL1A1_0239	c.662G>C	p.Gly221Ala	SNV	Missense	Pathogenic		<5	19344236, 27011056	Exon 9	No
COL1A1_0240	c.662G>T	p.Gly221Val	SNV	Missense	Likely Pathogenic		<5	19344236, 37895885	Exon 9	No
COL1A1_0241	c.668dup	p.Gly224Argfs*9	Duplication	Frameshift	Pathogenic		<5	21667357, 22753364	Exon 9	No
COL1A1_0242	c.669del	p.Gly224Valfs*41	Deletion	Frameshift	Pathogenic		<5	21667357, 22753364	Exon 9	No
COL1A1_0243	c.670G>T	p.Gly224Cys	SNV	Missense	Likely Pathogenic	I	<5	1895312, 19344236, 24273577	Exon 9	Yes
COL1A1_0244	c.670G>A	p.Gly224Ser	SNV	Missense	Pathogenic		<5	19344236, 31794058, 33939306, Show More >>	Exon 9	Yes
COL1A1_0245	c.671del	p.Gly224Valfs*41	Deletion	Frameshift	Pathogenic		<5	21667357, 22753364	Exon 9	No
COL1A1_0246	c.671G>A	p.Gly224Asp	SNV	Missense	Pathogenic	III, IV	<5	19344236, 29552444, 30715774, Show More >>	Exon 9	No
COL1A1_0247	c.671G>T	p.Gly224Val	SNV	Missense	Likely Pathogenic		<5	19344236, 30239531, 35242891	Exon 9	Yes
COL1A1_0248	c.672_673delinsA	p.Pro226Leufs*39	Delins	Frameshift	Pathogenic		<5	22753364	Exon 9	No
COL1A1_0249	c.677del	p.Pro226Leufs*39	Deletion	Frameshift	Pathogenic		<5	22753364	Exon 9	No
COL1A1_0250	c.691_692del	p.Asp231*	Deletion	Frameshift	Pathogenic	I	<5	28528406	Exon 9	No
COL1A1_0251	c.695del	p.Asp232Valfs*33	Deletion	Frameshift	Pathogenic	IV	<5	28725987	Exon 9	No
COL1A1_0252	c.696+2T>G	Intronic	SNV	Splice donor	Pathogenic	I	<5	25983617	Intron 9	No
COL1A1_0253	c.696+4del	Intronic	Deletion	Splice region	Uncertain Significance		<5	33939306	Intron 9	No
COL1A1_0254	c.696+3A>C	Intronic	SNV	Splice region	Pathogenic	III	<5	25963598	Intron 9	No
COL1A1_0255	c.696+1G>T	Intronic	SNV	Splice donor	Pathogenic	I	<5	30715774	Intron 9	No
COL1A1_0256	c.697-2A>G	Intronic	SNV	Splice acceptor	Likely Pathogenic	I, IV	<5	15241796, 25963598, 25983617, Show More >>	Intron 9	No
COL1A1_0257	c.697-2_697-1del	Intronic	Deletion	Splice acceptor	Pathogenic	I	<5	19358256, 25983617, 33470886	Intron 9	Yes
COL1A1_0258	c.697-1G>A	Intronic	SNV	Splice acceptor	Pathogenic		<5	33939306	Intron 9	Yes
COL1A1_0259	c.697-1G>C	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	24501682, 25983617	Intron 9	Yes
COL1A1_0260	c.697-30A>G	Intronic	SNV	Intronic	Benign		<5		Intron 9	Yes
COL1A1_0261	c.697-2A>T	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	25983617, 27044453	Intron 9	Yes
COL1A1_0262	c.697-1G>T	Intronic	SNV	Splice acceptor	Likely Pathogenic	IV	<5	25963598, 25983617, 9203215	Intron 9	No
COL1A1_0263	c.697-2del	Intronic	Deletion	Splice acceptor	Pathogenic	I	<5	16705691, 25983617, 27044453, Show More >>	Intron 9	Yes
COL1A1_0264	c.697G>C	p.Gly233Arg	SNV	Missense	Likely Pathogenic		<5	19344236, 29946973	Exon 10	No
COL1A1_0265	c.700dup	p.Glu234Glyfs*10	Duplication	Frameshift	Pathogenic		<5	25983617, 29354746, 33939306	Exon 10	No
COL1A1_0266	c.700del	p.Glu234Lysfs*31	Deletion	Frameshift	Pathogenic		<5	25983617, 29354746, 33939306	Exon 10	No
COL1A1_0267	c.716G>A	p.Gly239Asp	SNV	Missense	Likely Pathogenic		<5	19344236, 25983617	Exon 10	No
COL1A1_0268	c.725G>A	p.Gly242Asp	SNV	Missense	Likely Pathogenic		<5	16705691, 19344236, 25983617, Show More >>	Exon 10	No
COL1A1_0269	c.725G>T	p.Gly242Val	SNV	Missense	Pathogenic	I, IV	<5	19344236, 30715774, 38179771	Exon 10	Yes
COL1A1_0270	c.733G>T	p.Gly245Trp	SNV	Missense	Likely Pathogenic	III	<5	19344236, 35748117	Exon 10	Yes
COL1A1_0271	c.734G>A	p.Gly245Glu	SNV	Missense	Likely Pathogenic	I	<5	19344236, 31447884	Exon 10	Yes
COL1A1_0272	c.740del	p.Pro247Leufs*18	Deletion	Frameshift	Pathogenic		<5	32502767	Exon 10	No
COL1A1_0273	c.740C>T	p.Pro247Leu	SNV	Missense	Uncertain Significance	I	<5	25983617, 27044453	Exon 10	Yes
COL1A1_0274	c.742G>A	p.Gly248Arg	SNV	Missense	Pathogenic	III	<5	19344236, 25983617, 31447884, Show More >>	Exon 10	Yes
COL1A1_0275	c.743G>A	p.Gly248Glu	SNV	Missense	Likely Pathogenic	III	<5	19344236, 25983617	Exon 10	No
COL1A1_0276	c.748C>T	p.Gln250*	SNV	Nonsense	Pathogenic		<5	32123938	Exon 10	No
COL1A1_0277	c.750+2T>G	Intronic	SNV	Splice donor	Pathogenic	I	<5	36709916	Intron 10	Yes
COL1A1_0278	c.750+2T>A	Intronic	SNV	Splice donor	Pathogenic	I, III, IV	<5	28326186, 28810924, 32166892, Show More >>	Intron 10	Yes
COL1A1_0279	c.750+1G>C	Intronic	SNV	Splice donor	Likely Pathogenic	III	<5	25963598	Intron 10	No
COL1A1_0280	c.750+1G>A	Intronic	SNV	Splice donor	Likely Pathogenic	I, III, IV	<5	22753364, 25963598, 27335225, Show More >>	Intron 10	Yes
COL1A1_0281	c.750+1dup	Intronic	Duplication	Frameshift	Pathogenic	I	<5	33070251		No
COL1A1_0282	c.750+1G>T	Intronic	SNV	Splice donor	Pathogenic	I, III	<5	25086671, 38102329	Intron 10	Yes
COL1A1_0283	c.751-2A>C	Intronic	SNV	Splice acceptor	Pathogenic	I, IV	<5	30614853, 36339400	Intron 10	No
COL1A1_0284	c.751-2A>G	Intronic	SNV	Splice acceptor	Pathogenic		<5	35044492	Intron 10	Yes
COL1A1_0285	c.751G>C	p.Gly251Arg	SNV	Missense	Likely Pathogenic	III	<5	19344236, 24668929	Exon 11	No
COL1A1_0286	c.752G>A	p.Gly251Asp	SNV	Missense	Likely Pathogenic		<5	19344236, 39717845	Exon 11	Yes
COL1A1_0287	c.757C>T	p.Arg253*	SNV	Nonsense	Pathogenic	I, III, IV	<5	15024745, 16879195, 27484908, Show More >>	Exon 11	Yes
COL1A1_0288	c.761G>A	p.Gly254Glu	SNV	Missense	Pathogenic	III	<5	11286507, 15728585, 18798308, Show More >>	Exon 11	Yes
COL1A1_0289	c.768dup	p.Gly257Argfs*30	Duplication	Frameshift	Pathogenic		<5	26307460	Exon 11	No
COL1A1_0290	c.769G>A	p.Gly257Arg	SNV	Missense	Pathogenic		<5	12590186, 15024745, 16705691, Show More >>	Exon 11	Yes
COL1A1_0291	c.769G>C	p.Gly257Arg	SNV	Missense	Pathogenic		<5	12590186, 15024745, 16705691, Show More >>	Exon 11	Yes
COL1A1_0292	c.770G>T	p.Gly257Val	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 30715774	Exon 11	No
COL1A1_0293	c.770del	p.Gly257Glufs*8	Deletion	Frameshift	Pathogenic		<5	26307460	Exon 11	No
COL1A1_0294	c.770G>A	p.Gly257Glu	SNV	Missense	Likely Pathogenic	I	<5	19344236, 30614853	Exon 11	Yes
COL1A1_0295	c.775del	p.Ala259Leufs*6	Deletion	Frameshift	Pathogenic	I	<5	23729740, 8808594	Exon 11	No
COL1A1_0296	c.779G>A	p.Gly260Asp	SNV	Missense	Pathogenic	I	<5	19344236, 34367232, 35822426	Exon 11	Yes
COL1A1_0297	c.787G>A	p.Gly263Arg	SNV	Missense	Likely Pathogenic		<5	1718984, 19344236, 8223589, Show More >>	Exon 11	Yes
COL1A1_0298	c.788G>T	p.Gly263Val	SNV	Missense	Likely Pathogenic	I	<5	19344236, 8223589, 9067755	Exon 11	No
COL1A1_0299	c.788G>C	p.Gly263Ala	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 11	No
COL1A1_0300	c.790A>T	p.Met264Leu	SNV	Missense	Uncertain Significance		<5	27484908, 32742340	Exon 11	Yes
COL1A1_0301	c.796G>A	p.Gly266Arg	SNV	Missense	Likely Pathogenic		<5	19344236, 27090748, 29552444, Show More >>	Exon 11	Yes
COL1A1_0302	c.796G>C	p.Gly266Arg	SNV	Missense	Likely Pathogenic		<5	19344236, 27090748, 29552444, Show More >>	Exon 11	Yes
COL1A1_0303	c.797G>A	p.Gly266Glu	SNV	Missense	Pathogenic	I, II, IV	<5	15728585, 17875077, 19344236, Show More >>	Exon 11	No
COL1A1_0304	c.799_802del	p.His267Glufs*273	Deletion	Frameshift	Pathogenic		<5	30692697, 39251974	Exon 11	No
COL1A1_0305	c.800del	p.His267Profs*274	Deletion	Frameshift	Pathogenic		<5	30692697, 39251974	Exon 11	No
COL1A1_0306	c.801_802del	p.His267Glnfs*19	Deletion	Frameshift	Pathogenic		<5	30692697, 39251974	Exon 11	No
COL1A1_0307	c.802_804+9del	Intronic	Deletion	Splice donor	Pathogenic	III	<5	30614853	Exon 11	No
COL1A1_0308	c.804+62A>G	Intronic	SNV	Intronic	Benign		<5		Intron 11	Yes
COL1A1_0309	c.804+1G>A	Intronic	SNV	Splice donor	Pathogenic	I, IV	<5	31447884, 32166892	Intron 11	Yes
COL1A1_0310	c.804+80A>C	Intronic	SNV	Intronic	Benign		<5		Intron 11	Yes
COL1A1_0311	c.804+3_804+6del	Intronic	Deletion	Splice region	Uncertain Significance	III	<5	11317364	Intron 11	No
COL1A1_0312	c.804+2_804+3del	Intronic	Deletion	Splice donor	Pathogenic		<5	21884818	Intron 11	No
COL1A1_0313	c.805G>A	p.Gly269Ser	SNV	Missense	Likely Pathogenic		<5	19344236, 37715362	Exon 12	Yes
COL1A1_0314	c.805-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	IV	<5	35154279	Intron 11	No
COL1A1_0315	c.806G>C	p.Gly269Ala	SNV	Missense	Likely Pathogenic	I, IV	<5	19344236, 36951356	Exon 12	Yes
COL1A1_0316	c.809dup	p.Ser271Glnfs*16	Duplication	Frameshift	Pathogenic		<5	22753364, 30614853, 32123938	Exon 12	No
COL1A1_0317	c.809del	p.Phe270Serfs*271	Deletion	Frameshift	Pathogenic	I	<5	9443882	Exon 12	No
COL1A1_0318	c.813_814del	p.Ser271Argfs*15	Deletion	Frameshift	Pathogenic		<5	22753364, 30614853, 32123938	Exon 12	No
COL1A1_0319	c.814G>A	p.Gly272Ser	SNV	Missense	Pathogenic	I, IV	<5	19344236, 30715774, 34107839	Exon 12	Yes
COL1A1_0320	c.814G>T	p.Gly272Cys	SNV	Missense	Likely Pathogenic	I	<5	1613761, 1737847, 1770532, Show More >>	Exon 12	Yes
COL1A1_0321	c.815G>A	p.Gly272Asp	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 12	No
COL1A1_0322	c.823G>A	p.Gly275Ser	SNV	Missense	Likely Pathogenic	III	<5	19344236, 30715774	Exon 12	No
COL1A1_0323	c.824G>C	p.Gly275Ala	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 12	No
COL1A1_0324	c.824G>A	p.Gly275Asp	SNV	Missense	Pathogenic	II	<5	1460046, 19344236, 37875969	Exon 12	Yes
COL1A1_0325	c.841G>A	p.Gly281Ser	SNV	Missense	Likely Pathogenic		<5	19344236, 34591613	Exon 12	Yes
COL1A1_0326	c.851G>C	p.Gly284Ala	SNV	Missense	Likely Pathogenic		<5	19344236, 39717845	Exon 12	Yes
COL1A1_0327	c.858+1G>T	Intronic	SNV	Splice donor	Pathogenic	I	<5	36709916	Intron 12	No
COL1A1_0328	c.858+1_858+5del	Intronic	Deletion	Splice donor	Pathogenic	III	<5	21667357	Intron 12	No
COL1A1_0329	c.858+1G>A	Intronic	SNV	Splice donor	Pathogenic	I, IV	<5	30715774, 31447884, 32166892, Show More >>	Intron 12	Yes
COL1A1_0330	c.858+2T>A	Intronic	SNV	Splice donor	Pathogenic	I	<5	33070251	Intron 12	No
COL1A1_0331	c.858+24G>A	Intronic	SNV	Intronic	Likely Benign	IV	<5	26627451	Intron 12	Yes
COL1A1_0332	c.859G>A	p.Gly287Ser	SNV	Missense	Pathogenic	I, IV	<5	17875077, 19344236, 23869235	Exon 13	Yes
COL1A1_0333	c.859-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	31304589	Intron 12	Yes
COL1A1_0334	c.859G>C	p.Gly287Arg	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 13	No
COL1A1_0335	c.859-2A>C	Intronic	SNV	Splice acceptor	Likely Pathogenic	I, III	<5	16879195, 21667357	Intron 12	No
COL1A1_0336	c.859-14T>G	Intronic	SNV	Intronic	Benign		<5		Intron 12	Yes
COL1A1_0337	c.860G>T	p.Gly287Val	SNV	Missense	Likely Pathogenic	II	<5	19344236, 24863959	Exon 13	No
COL1A1_0338	c.862G>A	p.Glu288Lys	SNV	Missense	Uncertain Significance	I	<5	16786509, 18996919	Exon 13	Yes
COL1A1_0339	c.862G>T	p.Glu288*	SNV	Nonsense	Pathogenic	I	<5	28528406, 31363794, 33470886	Exon 13	Yes
COL1A1_0340	c.863A>C	p.Glu288Ala	SNV	Missense	Uncertain Significance	II	<5	18996919	Exon 13	No
COL1A1_0341	c.?	p.Gly290Glu		Missense	Likely Pathogenic	III	<5	19344236, 24767406, 27146342, Show More >>	Exon 13	Unknown
COL1A1_0342	c.868G>C	p.Gly290Arg	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 13	Yes
COL1A1_0343	c.?	p.Ser291Arg		Missense	Uncertain Significance		<5	32123938	Exon 13	Unknown
COL1A1_0344	c.878G>T	p.Gly293Val	SNV	Missense	Likely Pathogenic	III	<5	19344236, 22589248	Exon 13	No
COL1A1_0345	c.878G>A	p.Gly293Asp	SNV	Missense	Pathogenic	III	<5	19344236, 26627451, 32123938	Exon 13	Yes
COL1A1_0346	c.886G>T	p.Gly296*	SNV	Nonsense	Pathogenic	IV	<5	38828893	Exon 13	No
COL1A1_0347	c.?	p.Gly296Thr		Missense	Likely Pathogenic		<5	19344236	Exon 13	Unknown
COL1A1_0348	c.887G>C	p.Gly296Ala	SNV	Missense	Pathogenic		<5	19344236, 30692697	Exon 13	Yes
COL1A1_0349	c.887G>T	p.Gly296Val	SNV	Missense	Likely Pathogenic	I	<5	19344236, 31429852	Exon 13	Yes
COL1A1_0350	c.895G>C	p.Gly299Arg	SNV	Missense	Pathogenic	III, IV	<5	15241796, 19344236, 30715774	Exon 13	No
COL1A1_0351	c.896G>A	p.Gly299Asp	SNV	Missense	Pathogenic	III	<5	15728585, 19344236, 33939306, Show More >>	Exon 13	Yes
COL1A1_0352	c.898C>T	p.Gln300*	SNV	Nonsense	Pathogenic		<5	27748872, 33939306	Exon 13	No
COL1A1_0353	c.903+1G>A	Intronic	SNV	Splice donor	Pathogenic		<5	27748872, 31039433, 31427586	Intron 13	Yes
COL1A1_0354	c.904-9G>T	Intronic	SNV	Intronic	Benign		<5		Intron 13	Yes
COL1A1_0355	c.904G>C	p.Gly302Arg	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 14	Yes
COL1A1_0356	c.904-9G>A	Intronic	SNV	Intronic	Likely Pathogenic	I	<5	28810924, 31447884, 32166892	Intron 13	Yes
COL1A1_0357	c.904-14G>A	Intronic	SNV	Intronic	Pathogenic	IV	<5	25963598	Intron 13	No
COL1A1_0358	c.904-15T>A	Intronic	SNV	Intronic	Pathogenic	I	<5	30715774, 31737030	Intron 13	No
COL1A1_0359	c.904-10T>A	Intronic	SNV	Intronic	Pathogenic	I	<5	30715774, 31737030	Intron 13	Yes
COL1A1_0360	c.905G>A	p.Gly302Asp	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 36709916	Exon 14	No
COL1A1_0361	c.910dup	p.Arg304Profs*6	Duplication	Frameshift	Pathogenic		<5	30715774	Exon 14	No
COL1A1_0362	c.910del	p.Arg304Valfs*237	Deletion	Frameshift	Pathogenic		<5	30715774	Exon 14	No
COL1A1_0363	c.913G>C	p.Gly305Arg	SNV	Missense	Likely Pathogenic	I	<5	15241796, 19344236	Exon 14	No
COL1A1_0364	c.913G>A	p.Gly305Ser	SNV	Missense	Pathogenic	IV	<5	11317364, 19344236, 35113812	Exon 14	Yes
COL1A1_0365	c.923G>T	p.Gly308Val	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 30715774	Exon 14	No
COL1A1_0366	c.931G>C	p.Gly311Arg	SNV	Missense	Likely Pathogenic	IV	<5	11317364, 19344236	Exon 14	Yes
COL1A1_0367	c.932G>T	p.Gly311Val	SNV	Missense	Likely Pathogenic	III	<5	19344236, 27519266	Exon 14	Yes
COL1A1_0368	c.934C>T	p.Arg312Cys	SNV	Missense	Pathogenic		<5	10739762, 15864348, 17206620, Show More >>	Exon 14	Yes
COL1A1_0369	c.935G>T	p.Arg312Leu	SNV	Missense	Likely Pathogenic		<5	34484741	Exon 14	No
COL1A1_0370	c.940G>A	p.Gly314Arg	SNV	Missense	Likely Pathogenic	IV	<5	15728585, 19344236, 22589248	Exon 14	Yes
COL1A1_0371	c.941G>A	p.Gly314Glu	SNV	Missense	Pathogenic		<5	19344236, 39586789	Exon 14	No
COL1A1_0372	c.948del	p.Gly317Alafs*224	Deletion	Frameshift	Pathogenic		<5	30715774, 37715362	Exon 14	No
COL1A1_0373	c.949G>A	p.Gly317Ser	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 27519266	Exon 14	No
COL1A1_0374	c.950del	p.Gly317Alafs*224	Deletion	Frameshift	Pathogenic		<5	30715774, 37715362	Exon 14	No
COL1A1_0375	c.957+1G>T	Intronic	SNV	Splice donor	Pathogenic	I, II, III	<5	25963598, 36923788	Intron 14	No
COL1A1_0376	c.957+2dup	Intronic	Duplication	Splice donor	Pathogenic		<5	36896471	Intron 14	No
COL1A1_0377	c.957+5G>A	Intronic	SNV	Splice region	Likely Pathogenic	II	<5	18996919, 2298750	Intron 14	Yes
COL1A1_0378	c.957+2T>A	Intronic	SNV	Splice donor	Likely Pathogenic	II	<5	25963598	Intron 14	No
COL1A1_0379	c.958-18_958-15del	Intronic	Deletion	Intronic	Likely Pathogenic	III	<5	25963598	Intron 14	No
COL1A1_0380	c.958G>C	p.Gly320Arg	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 38828893	Exon 15	No
COL1A1_0381	c.959G>A	p.Gly320Asp	SNV	Missense	Pathogenic	I, IV	<5	19344236, 27519266, 32166892	Exon 15	Yes
COL1A1_0382	c.959G>T	p.Gly320Val	SNV	Missense	Likely Pathogenic	I	<5	16786509, 19344236	Exon 15	Yes
COL1A1_0383	c.967G>T	p.Gly323*	SNV	Nonsense	Pathogenic	I	<5	35052464	Exon 15	Yes
COL1A1_0384	c.967G>A	p.Gly323Arg	SNV	Missense	Pathogenic	IV	<5	19344236, 25742658, 30715774	Exon 15	No
COL1A1_0385	c.972_978dup	p.Ala327*	Duplication	Frameshift	Pathogenic	I	<5	28498836, 39717845	Exon 15	Yes
COL1A1_0386	c.974A>G	p.Asp325Gly	SNV	Missense	Uncertain Significance		<5		Exon 15	Yes
COL1A1_0387	c.976G>C	p.Gly326Arg	SNV	Missense	Pathogenic	I	<5	19344236, 28528406, 35575034	Exon 15	Yes
COL1A1_0388	c.?	p.Gly326Asn		Missense	Likely Pathogenic		<5	19344236, 28528406	Exon 15	Unknown
COL1A1_0389	c.976G>A	p.Gly326Ser	SNV	Missense	Likely Pathogenic		<5	19344236, 28528406	Exon 15	Yes
COL1A1_0390	c.977G>A	p.Gly326Asp	SNV	Missense	Pathogenic	I, III, IV	<5	19344236, 27519266, 32166892, Show More >>	Exon 15	Yes
COL1A1_0391	c.977G>T	p.Gly326Val	SNV	Missense	Likely Pathogenic	I	<5	19344236, 33070251	Exon 15	No
COL1A1_0392	c.982_983dup	p.Gly329Leufs*213	Duplication	Frameshift	Pathogenic		<5	25086671	Exon 15	No
COL1A1_0393	c.983_984dup	p.Gly329Leufs*213	Duplication	Frameshift	Pathogenic		<5	25086671	Exon 15	Yes
COL1A1_0394	c.983C>A	p.Thr328Asn	SNV	Missense	Uncertain Significance		<5	35234813	Exon 15	Yes
COL1A1_0395	c.984del	p.Gly329Valfs*212	Deletion	Frameshift	Pathogenic		<5	25086671	Exon 15	Yes
COL1A1_0396	c.986G>T	p.Gly329Val	SNV	Missense	Pathogenic		<5	19344236, 31994750	Exon 15	No
COL1A1_0397	c.992C>T	p.Ala331Val	SNV	Missense	Uncertain Significance	I	<5	37810882	Exon 15	Yes
COL1A1_0398	c.994G>A	p.Gly332Arg	SNV	Missense	Pathogenic	I, III, IV	<5	12362986, 1613761, 1718984, Show More >>	Exon 15	Yes
COL1A1_0399	c.996_998del	p.Pro334del	Deletion	Deletion	Likely Pathogenic		<5	19344236, 30715774	Exon 15	No
COL1A1_0400	c.997C>T	p.Pro333Ser	SNV	Missense	Uncertain Significance		<5		Exon 15	Yes
COL1A1_0401	c.997_998delinsG	p.Pro333Alafs*208	Delins	Frameshift	Pathogenic	I	<5	16705691	Exon 15	No
COL1A1_0402	c.1001dup	p.Gly335Trpfs*18	Duplication	Frameshift	Pathogenic	I	<5	15024745	Exon 15	No
COL1A1_0403	c.1001del	p.Pro334Leufs*207	Deletion	Frameshift	Pathogenic	I	<5	30614853, 36339400, 37810882	Exon 15	No
COL1A1_0404	c.1002+5G>T	Intronic	SNV	Splice region	Likely Pathogenic		<5	35855989	Intron 15	Yes
COL1A1_0405	c.1002+77A>G	Intronic	SNV	Intronic	Benign		<5		Intron 15	Yes
COL1A1_0406	c.1002+52A>G	Intronic	SNV	Intronic	Benign		<5		Intron 15	Yes
COL1A1_0407	c.1002+2T>C	Intronic	SNV	Splice donor	Pathogenic	I, IV	<5	27510842, 27519266, 32166892	Intron 15	Yes
COL1A1_0408	c.1003-43_1003-32del	Intronic	Deletion	Intronic	Uncertain Significance	I	<5	11317364, 37293821	Intron 15	No
COL1A1_0409	c.1003G>A	p.Gly335Ser	SNV	Missense	Pathogenic	IV	<5	19344236, 30614853, 30715774, Show More >>	Exon 16	Yes
COL1A1_0410	c.1003-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	36709916	Intron 15	No
COL1A1_0411	c.1005T>A	p.Gly335=	SNV	Silent	Likely Benign		<5	21884818	Exon 16	Yes
COL1A1_0412	c.1005T>G	p.Gly335=	SNV	Silent	Likely Benign		<5	21884818	Exon 16	No
COL1A1_0413	c.1008del	p.Thr337Profs*204	Deletion	Frameshift	Likely Pathogenic		<5	31039433	Exon 16	No
COL1A1_0414	c.1012G>A	p.Gly338Ser	SNV	Missense	Pathogenic	III	<5	19344236, 24668929, 28378289, Show More >>	Exon 16	Yes
COL1A1_0415	c.1012G>C	p.Gly338Arg	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 16	No
COL1A1_0416	c.1012G>T	p.Gly338Cys	SNV	Missense	Likely Pathogenic	IV	<5	16786509, 19344236	Exon 16	No
COL1A1_0417	c.1017del	p.Ala340Leufs*201	Deletion	Frameshift	Pathogenic		<5	33939306	Exon 16	No
COL1A1_0418	c.1018del	p.Ala340Leufs*201	Deletion	Frameshift	Pathogenic		<5	33939306	Exon 16	Yes
COL1A1_0419	c.1018G>A	p.Ala340Thr	SNV	Missense	Uncertain Significance		<5	35000503	Exon 16	Yes
COL1A1_0420	c.1021G>C	p.Gly341Arg	SNV	Missense	Likely Pathogenic	III	<5	19344236, 26627451	Exon 16	Yes
COL1A1_0421	c.1021_1023dup	p.Gly341dup	Duplication	Insertion	Likely Pathogenic	IV	<5	19344236, 36709916	Exon 16	No
COL1A1_0422	c.1028del	p.Pro343Leufs*198	Deletion	Frameshift	Pathogenic	I, IV	<5	30715774, 31414283	Exon 16	No
COL1A1_0423	c.1031G>A	p.Gly344Asp	SNV	Missense	Pathogenic	III	<5	19344236, 35223854	Exon 16	No
COL1A1_0424	c.1040G>A	p.Gly347Asp	SNV	Missense	Pathogenic	IV	<5	19344236, 33470886	Exon 16	Yes
COL1A1_0425	c.1042G>A	p.Ala348Thr	SNV	Missense	Uncertain Significance		<5	29543232	Exon 16	Yes
COL1A1_0426	c.1045G>T	p.Val349Phe	SNV	Missense	Uncertain Significance	I	<5	18670065, 26188975, 35396906	Exon 16	Yes
COL1A1_0427	c.1048G>C	p.Gly350Arg	SNV	Missense	Likely Pathogenic		<5	19344236, 8799376	Exon 16	No
COL1A1_0428	c.1049G>T	p.Gly350Val	SNV	Missense	Pathogenic	III	<5	19344236, 35616356	Exon 16	Yes
COL1A1_0429	c.1054_1056+2del	Intronic	Deletion	Splice donor	Pathogenic	II	<5	22987783, 29594386, 29946973, Show More >>	Exon 16	No
COL1A1_0430	c.1056+1G>A	Intronic	SNV	Splice donor	Pathogenic	III, IV	<5	24668929, 30715774, 31429852	Intron 16	Yes
COL1A1_0431	c.1056+2T>C	Intronic	SNV	Splice donor	Likely Pathogenic		<5	31039433	Intron 16	Yes
COL1A1_0432	c.1057G>T	p.Gly353Cys	SNV	Missense	Pathogenic	I, III, IV	<5	1613761, 1737847, 19344236, Show More >>	Exon 17	Yes
COL1A1_0433	c.1057-2A>C	Intronic	SNV	Splice acceptor	Pathogenic	I, III	<5	15502558, 38828893, 8456806	Intron 16	Yes
COL1A1_0434	c.1057-1G>T	Intronic	SNV	Splice acceptor	Pathogenic	I, IV	<5	27132807	Intron 16	No
COL1A1_0435	c.1057-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	29635034	Intron 16	Yes
COL1A1_0436	c.1057G>A	p.Gly353Ser	SNV	Missense	Likely Pathogenic	IV	<5	17875077, 19344236, 39717845	Exon 17	Yes
COL1A1_0437	c.1058G>A	p.Gly353Asp	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 17	No
COL1A1_0438	c.1065_1069del	p.Gly356Profs*7	Deletion	Frameshift	Pathogenic		<5	22795108, 23482337	Exon 17	No
COL1A1_0439	c.1065del	p.Gly356Valfs*185	Deletion	Frameshift	Pathogenic		<5	22795108, 23482337	Exon 17	No
COL1A1_0440	c.1065_1078del	p.Gly356Profs*4	Deletion	Frameshift	Pathogenic		<5	22795108, 23482337	Exon 17	No
COL1A1_0441	c.1066G>T	p.Gly356Cys	SNV	Missense	Pathogenic	I, III	<5	1613761, 19344236, 1988452, Show More >>	Exon 17	Yes
COL1A1_0442	c.1066G>A	p.Gly356Ser	SNV	Missense	Pathogenic	III	<5	19344236, 30715774	Exon 17	Yes
COL1A1_0443	c.1072C>T	p.Gln358*	SNV	Nonsense	Pathogenic	IV	<5	34107839	Exon 17	No
COL1A1_0444	c.1072del	p.Gln358Lysfs*183	Deletion	Frameshift	Pathogenic	III	<5	27519266	Exon 17	No
COL1A1_0445	c.1072C>G	p.Gln358Glu	SNV	Missense	Uncertain Significance		<5	34150014, 37696869	Exon 17	Yes
COL1A1_0446	c.1075G>A	p.Gly359Arg	SNV	Missense	Likely Pathogenic	II	<5	19344236, 24863959	Exon 17	No
COL1A1_0447	c.1077del	p.Arg361Glufs*180	Deletion	Frameshift	Pathogenic	I	<5	30614853	Exon 17	No
COL1A1_0448	c.1081C>T	p.Arg361*	SNV	Nonsense	Pathogenic	I, III, IV	<5	12590186, 15024745, 21667357, Show More >>	Exon 17	Yes
COL1A1_0449	c.1082_1099dup	p.Arg361_Pro366dup	Duplication	Insertion	Likely Pathogenic	III	<5	19344236, 38102329	Exon 17	No
COL1A1_0450	c.1084G>T	p.Gly362Cys	SNV	Missense	Pathogenic		<5	19344236, 31994750	Exon 17	No
COL1A1_0451	c.1084G>A	p.Gly362Ser	SNV	Missense	Pathogenic	IV	<5	19344236, 29499418, 30715774, Show More >>	Exon 17	Yes
COL1A1_0452	c.1085G>C	p.Gly362Ala	SNV	Missense	Likely Pathogenic	I	<5	19344236, 33070251	Exon 17	No
COL1A1_0453	c.1093G>A	p.Gly365Ser	SNV	Missense	Pathogenic	III	<5	19344236, 30715774, 33939306	Exon 17	No
COL1A1_0454	c.1094G>T	p.Gly365Val	SNV	Missense	Pathogenic		<5	19344236, 31994750, 36352425	Exon 17	Yes
COL1A1_0455	c.1094G>C	p.Gly365Ala	SNV	Missense	Pathogenic	III, IV	<5	18798308, 19344236, 22589248, Show More >>	Exon 17	No
COL1A1_0456	c.1099C>T	p.Gln367*	SNV	Nonsense	Pathogenic	I	<5	30715774	Exon 17	Yes
COL1A1_0457	c.1102G>A	p.Gly368Ser	SNV	Missense	Pathogenic	II, III, IV	<5	19344236, 24668929, 27519266, Show More >>	Exon 17	No
COL1A1_0458	c.1103G>C	p.Gly368Ala	SNV	Missense	Likely Pathogenic	I	<5	19344236, 30715774	Exon 17	Yes
COL1A1_0459	c.1103G>T	p.Gly368Val	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 17	Yes
COL1A1_0460	c.1111G>A	p.Gly371Ser	SNV	Missense	Pathogenic	III	<5	18798308, 19344236, 21667357, Show More >>	Exon 17	Yes
COL1A1_0461	c.1121G>C	p.Gly374Ala	SNV	Missense	Pathogenic	I, III, IV	<5	19344236, 24668929, 27748872, Show More >>	Exon 17	Yes
COL1A1_0462	c.1126_1127del	p.Pro376Trpfs*15	Deletion	Frameshift	Pathogenic		<5	23729740, 35253369, 37715362, Show More >>	Exon 17	No
COL1A1_0463	c.1127dup	p.Gly377Trpfs*15	Duplication	Frameshift	Pathogenic		<5	21667357, 23729740, 24501682, Show More >>	Exon 17	No
COL1A1_0464	c.1127del	p.Pro376Leufs*165	Deletion	Frameshift	Pathogenic		<5	23729740, 35253369, 37715362, Show More >>	Exon 17	No
COL1A1_0465	c.1128del	p.Gly377Alafs*164	Deletion	Frameshift	Pathogenic		<5	21667357, 23729740, 24501682, Show More >>	Exon 17	Yes
COL1A1_0466	c.1138G>T	p.Gly380Cys	SNV	Missense	Pathogenic	I	<5	19344236, 29499418, 31429852, Show More >>	Exon 17	No
COL1A1_0467	c.1138G>A	p.Gly380Ser	SNV	Missense	Pathogenic	III, IV	<5	19344236, 24668929, 30715774	Exon 17	Yes
COL1A1_0468	c.1138G>C	p.Gly380Arg	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 17	No
COL1A1_0469	c.1147G>T	p.Gly383Cys	SNV	Missense	Likely Pathogenic	II	<5	1895312, 19344236, 24273577	Exon 17	No
COL1A1_0470	c.1148G>C	p.Gly383Ala	SNV	Missense	Likely Pathogenic	III	<5	19344236, 33070251	Exon 17	Yes
COL1A1_0471	c.1155+4del	Intronic	Deletion	Splice region	Likely Pathogenic	I	<5	30715774, 31737030	Intron 17	No
COL1A1_0472	c.1155+1G>A	Intronic	SNV	Splice donor	Pathogenic	I, IV	<5	16879195, 25742658, 27748872, Show More >>	Intron 17	Yes
COL1A1_0473	c.1155+1G>C	Intronic	SNV	Splice donor	Pathogenic	I, III	<5	15241796, 16705691, 28116328, Show More >>	Intron 17	Yes
COL1A1_0474	c.1155+3_1155+6del	Intronic	Deletion	Splice region	Uncertain Significance	I, IV	<5	15241796, 26627451	Intron 17	No
COL1A1_0475	c.1155+2T>G	Intronic	SNV	Splice donor	Pathogenic	I	<5	28810924	Intron 17	No
COL1A1_0476	c.1156-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	25086671, 25963598, 38828893	Intron 17	No
COL1A1_0477	c.1162_1171delinsAGGT	p.Pro388_Asp391delinsArgTyr	Delins	Protein altering	Likely Pathogenic	II	<5	19344236, 36068917	Exon 18	No
COL1A1_0478	c.1165G>T	p.Gly389Cys	SNV	Missense	Pathogenic	I, III, IV	<5	19344236, 24273577, 27519266, Show More >>	Exon 18	Yes
COL1A1_0479	c.1165G>A	p.Gly389Ser	SNV	Missense	Pathogenic	III, IV	<5	19344236, 27519266, 30715774, Show More >>	Exon 18	No
COL1A1_0480	c.1168G>A	p.Ala390Thr	SNV	Missense	Benign		<5		Exon 18	Yes
COL1A1_0481	c.1171G>A	p.Asp391Asn	SNV	Missense	Uncertain Significance		<5	34850017	Exon 18	No
COL1A1_0482	c.1183G>A	p.Gly395Ser	SNV	Missense	Pathogenic	III	<5	18798308, 19344236, 22589248	Exon 18	Yes
COL1A1_0483	c.1186G>A	p.Ala396Thr	SNV	Missense	Uncertain Significance		<5	29637746	Exon 18	No
COL1A1_0484	c.1192G>T	p.Gly398Cys	SNV	Missense	Pathogenic	I, III	<5	19344236, 31447884, 34567078	Exon 18	Yes
COL1A1_0485	c.1192G>A	p.Gly398Ser	SNV	Missense	Likely Pathogenic	III	<5	19344236, 31447884	Exon 18	No
COL1A1_0486	c.1193G>A	p.Gly398Asp	SNV	Missense	Likely Pathogenic	II	<5	19344236, 7487936	Exon 18	No
COL1A1_0487	c.1193G>C	p.Gly398Ala	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 9600458	Exon 18	Yes
COL1A1_0488	c.1200+1G>C	Intronic	SNV	Splice donor	Pathogenic	I	<5	36709916	Intron 18	No
COL1A1_0489	c.1200+1G>T	Intronic	SNV	Splice donor	Pathogenic	I	<5	27519266, 30614853, 30715774	Intron 18	No
COL1A1_0490	c.1200+1G>A	Intronic	SNV	Splice donor	Likely Pathogenic	I	<5	27748872, 29150909, 7942841	Intron 18	Yes
COL1A1_0491	c.1201_1202del	p.Gly401Cysfs*31	Deletion	Frameshift	Pathogenic	I	<5	25086671	Exon 19	No
COL1A1_0492	c.1201-1G>C	Intronic	SNV	Splice acceptor	Pathogenic		<5	33942288	Intron 18	No
COL1A1_0493	c.1201-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	9443882	Intron 18	Yes
COL1A1_0494	c.1201G>T	p.Gly401Cys	SNV	Missense	Likely Pathogenic	II	<5	1895312, 19344236	Exon 19	No
COL1A1_0495	c.1201G>A	p.Gly401Ser	SNV	Missense	Pathogenic	I, III, IV	<5	19344236, 24863959, 30715774, Show More >>	Exon 19	Yes
COL1A1_0496	c.1208del	p.Pro403Leufs*138	Deletion	Frameshift	Pathogenic		<5	29499418	Exon 19	No
COL1A1_0497	c.1209T>A	p.Pro403=	SNV	Silent	Uncertain Significance	I	<5	21341209, 21863547	Exon 19	No
COL1A1_0498	c.1210G>A	p.Gly404Ser	SNV	Missense	Likely Pathogenic	III	<5	19344236, 29432813	Exon 19	No
COL1A1_0499	c.1210G>T	p.Gly404Cys	SNV	Missense	Likely Pathogenic		<5	19344236, 24273577	Exon 19	No
COL1A1_0500	c.1219G>A	p.Gly407Ser	SNV	Missense	Likely Pathogenic	III	<5	11317364, 19344236	Exon 19	Yes
COL1A1_0501	c.1219G>T	p.Gly407Cys	SNV	Missense	Likely Pathogenic		<5	19344236, 24273577	Exon 19	No
COL1A1_0502	c.1222_1224del	p.Ala408del	Deletion	Deletion	Likely Pathogenic		<5	19344236, 33939306	Exon 19	No
COL1A1_0503	c.1228G>A	p.Gly410Ser	SNV	Missense	Pathogenic	III	<5	18798308, 19344236, 22589248	Exon 19	Yes
COL1A1_0504	c.1238G>A	p.Gly413Asp	SNV	Missense	Likely Pathogenic		<5	19344236, 19781681	Exon 19	Yes
COL1A1_0505	c.1240G>T	p.Ala414Ser	SNV	Missense	Uncertain Significance		<5		Exon 19	Yes
COL1A1_0506	c.1243C>T	p.Arg415*	SNV	Nonsense	Pathogenic	I, III, IV	<5	15024745, 15741671, 27132807, Show More >>	Exon 19	Yes
COL1A1_0507	c.1247G>T	p.Gly416Val	SNV	Missense	Likely Pathogenic	II	<5	19344236, 37810882	Exon 19	Yes
COL1A1_0508	c.1249C>G	p.Pro417Ala	SNV	Missense	Benign	I	<5	15741671, 16786509, 18028452, Show More >>	Exon 19	Yes
COL1A1_0509	c.1249C>T	p.Pro417Ser	SNV	Missense	Uncertain Significance		<5	39148098	Exon 19	Yes
COL1A1_0510	c.1251del	p.Ser418Leufs*123	Deletion	Frameshift	Pathogenic		<5	33470886	Exon 19	No
COL1A1_0511	c.1252del	p.Ser418Leufs*123	Deletion	Frameshift	Pathogenic		<5	33470886	Exon 19	Yes
COL1A1_0512	c.1256G>A	p.Gly419Glu	SNV	Missense	Likely Pathogenic	II	<5	19344236, 25289482	Exon 19	No
COL1A1_0513	c.1265del	p.Gly422Alafs*119	Deletion	Frameshift	Pathogenic		<5	27011056	Exon 19	No
COL1A1_0514	c.1269del	p.Gly424Alafs*117	Deletion	Frameshift	Pathogenic		<5	33939306	Exon 19	No
COL1A1_0515	c.1269dup	p.Gly424Argfs*9	Duplication	Frameshift	Pathogenic		<5	33939306	Exon 19	No
COL1A1_0516	c.1273G>A	p.Gly425Ser	SNV	Missense	Pathogenic	I, II, III	<5	10408781, 18996919, 19344236, Show More >>	Exon 19	Yes
COL1A1_0517	c.1281del	p.Gly428Valfs*113	Deletion	Frameshift	Pathogenic		<5	38828893	Exon 19	Yes
COL1A1_0518	c.1283del	p.Gly428Valfs*113	Deletion	Frameshift	Pathogenic		<5	38828893	Exon 19	No
COL1A1_0519	c.1284_1291dup	p.Gly431Valfs*113	Duplication	Frameshift	Pathogenic		<5	28956891, 39717845	Exon 19	No
COL1A1_0520	c.1292G>T	p.Gly431Val	SNV	Missense	Likely Pathogenic	II	<5	19344236, 38102329	Exon 19	Yes
COL1A1_0521	c.1292del	p.Gly431Valfs*110	Deletion	Frameshift	Pathogenic		<5	28956891, 39717845	Exon 19	No
COL1A1_0522	c.1298_1299insT	p.Gly434Argfs*2	Insertion	Frameshift	Likely Pathogenic		<5	36456709	Exon 19	No
COL1A1_0523	c.1299+2T>C	Intronic	SNV	Splice donor	Pathogenic		<5	36896471, 38715223	Intron 19	No
COL1A1_0524	c.1299+1G>T	Intronic	SNV	Splice donor	Pathogenic	I	<5	33939306, 38828893	Intron 19	No
COL1A1_0525	c.1299+1G>A	Intronic	SNV	Splice donor	Pathogenic	I, IV	<5	12590186, 19358256, 22206639, Show More >>	Intron 19	Yes
COL1A1_0526	c.1299+1G>C	Intronic	SNV	Splice donor	Likely Pathogenic	I, IV	<5	15024692, 27519266, 28116328, Show More >>	Intron 19	Yes
COL1A1_0527	c.1300-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	30715774	Intron 19	Yes
COL1A1_0528	c.1300-8C>T	Intronic	SNV	Splice region	Benign		<5		Intron 19	Yes
COL1A1_0529	c.1301G>T	p.Gly434Val	SNV	Missense	Likely Pathogenic	II	<5	1613761, 19344236	Exon 20	Yes
COL1A1_0530	c.1309G>A	p.Gly437Ser	SNV	Missense	Pathogenic	II	<5	19344236, 38027129, 38495793	Exon 20	No
COL1A1_0531	c.1310G>A	p.Gly437Asp	SNV	Missense	Likely Pathogenic	II	<5	19344236, 21239989	Exon 20	No
COL1A1_0532	c.1310G>C	p.Gly437Ala	SNV	Missense	Likely Pathogenic	III	<5	19344236, 30715774	Exon 20	Yes
COL1A1_0533	c.1319G>C	p.Gly440Ala	SNV	Missense	Likely Pathogenic	III	<5	19344236, 31447884	Exon 20	No
COL1A1_0534	c.1322G>A	p.Ser441Asn	SNV	Missense	Uncertain Significance		<5		Exon 20	No
COL1A1_0535	c.1326del	p.Gly443Glufs*98	Deletion	Frameshift	Pathogenic	I	<5	35044492	Exon 20	No
COL1A1_0536	c.?	p.Glu450Asp		Missense	Uncertain Significance	III	<5	27519266	Exon 20	Unknown
COL1A1_0537	c.1353+5G>C	Intronic	SNV	Splice region	Likely Pathogenic	II	<5	25963598	Intron 20	No
COL1A1_0538	c.1353+6T>G	Intronic	SNV	Splice region	Uncertain Significance	II	<5	35611473	Intron 20	No
COL1A1_0539	c.1353+1G>T	Intronic	SNV	Splice donor	Pathogenic	II	<5	24863959	Intron 20	No
COL1A1_0540	c.1353+1G>A	Intronic	SNV	Splice donor	Pathogenic	II	<5	30886339	Intron 20	No
COL1A1_0541	c.1353+2T>C	Intronic	SNV	Splice donor	Pathogenic	I, III	<5	11317364, 38828893	Intron 20	Yes
COL1A1_0542	c.1354-12G>A	Intronic	SNV	Intronic	Likely Pathogenic	I	<5	25963598, 26627451, 30715774, Show More >>	Intron 20	Yes
COL1A1_0543	c.1354G>A	p.Gly452Ser	SNV	Missense	Likely Pathogenic		<5	19344236, 33939306	Exon 21	No
COL1A1_0544	c.1354-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	12590186, 28810924, 32166892	Intron 20	No
COL1A1_0545	c.1364G>C	p.Gly455Ala	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 21	No
COL1A1_0546	c.1364G>A	p.Gly455Asp	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 21	No
COL1A1_0547	c.1373del	p.Gly458Aspfs*83	Deletion	Frameshift	Pathogenic	I	<5	30614853	Exon 21	No
COL1A1_0548	c.1373G>A	p.Gly458Glu	SNV	Missense	Pathogenic	III	<5	19344236, 34567078	Exon 21	No
COL1A1_0549	c.1379dup	p.Gly461Trpfs*14	Duplication	Frameshift	Pathogenic		<5	16786509, 26627451, 30715774, Show More >>	Exon 21	No
COL1A1_0550	c.1380dup	p.Gly461Trpfs*14	Duplication	Frameshift	Pathogenic		<5	16786509, 26627451, 30715774, Show More >>	Exon 21	No
COL1A1_0551	c.1380del	p.Gly461Alafs*80	Deletion	Frameshift	Pathogenic		<5	16786509, 26627451, 30715774, Show More >>	Exon 21	Yes
COL1A1_0552	c.1382del	p.Gly461Alafs*80	Deletion	Frameshift	Pathogenic		<5	16786509, 26627451, 30715774, Show More >>	Exon 21	No
COL1A1_0553	c.1386del	p.Ala463Leufs*78	Deletion	Frameshift	Pathogenic		<5	35250876	Exon 21	No
COL1A1_0554	c.1390G>A	p.Gly464Arg	SNV	Missense	Pathogenic	III	<5	18798308, 19344236, 22589248, Show More >>	Exon 21	Yes
COL1A1_0555	c.1405C>T	p.Arg469*	SNV	Nonsense	Pathogenic	I, IV	<5	19358256, 25086671, 30715774, Show More >>	Exon 21	Yes
COL1A1_0556	c.1408G>T	p.Gly470*	SNV	Nonsense	Pathogenic	IV	<5	30614853	Exon 21	No
COL1A1_0557	c.1409G>T	p.Gly470Val	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 21	No
COL1A1_0558	c.1409G>C	p.Gly470Ala	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 21667357	Exon 21	No
COL1A1_0559	c.1414C>T	p.Arg472*	SNV	Nonsense	Pathogenic	I	<5	16786509, 22753364, 24296239, Show More >>	Exon 21	Yes
COL1A1_0560	c.1426G>T	p.Gly476*	SNV	Nonsense	Pathogenic	I	<5	31447884	Exon 21	No
COL1A1_0561	c.1426G>C	p.Gly476Arg	SNV	Missense	Likely Pathogenic		<5	19344236, 21239989, 24273577, Show More >>	Exon 21	No
COL1A1_0562	c.1426G>A	p.Gly476Arg	SNV	Missense	Likely Pathogenic		<5	19344236, 21239989, 24273577, Show More >>	Exon 21	Yes
COL1A1_0563	c.1436G>C	p.Gly479Ala	SNV	Missense	Pathogenic	I, II	<5	19344236, 38273042, 39521787	Exon 21	No
COL1A1_0564	c.?	p.Gly482Ser		Missense	Likely Pathogenic		<5	19344236	Exon 21	Unknown
COL1A1_0565	c.1451del	p.Pro484Leufs*57	Deletion	Frameshift	Pathogenic	I	<5	30614853, 30715774	Exon 21	No
COL1A1_0566	c.1452del	p.Gly485Alafs*56	Deletion	Frameshift	Pathogenic	I	<5	11317364, 36830994	Exon 21	Yes
COL1A1_0567	c.1454G>A	p.Gly485Asp	SNV	Missense	Pathogenic		<5	19344236, 36276971	Exon 21	No
COL1A1_0568	c.1454G>C	p.Gly485Ala	SNV	Missense	Likely Pathogenic	III	<5	19344236, 30614853, 36276971	Exon 21	Yes
COL1A1_0569	c.1459_1460insA	p.Arg487Glnfs*6	Insertion	Frameshift	Pathogenic	I	<5	38828893	Exon 21	No
COL1A1_0570	c.1459C>T	p.Arg487Cys	SNV	Missense	Uncertain Significance		<5	33059327	Exon 21	No
COL1A1_0571	c.1461+1G>C	Intronic	SNV	Splice donor	Pathogenic	I	<5	16879195	Intron 21	Yes
COL1A1_0572	c.1461+5G>A	Intronic	SNV	Splice region	Likely Pathogenic	IV	<5	25963598	Intron 21	Yes
COL1A1_0573	c.1461+27G>A	Intronic	SNV	Intronic	Benign		<5		Intron 21	Yes
COL1A1_0574	c.1461+1G>A	Intronic	SNV	Splice donor	Pathogenic	I	<5	30715774	Intron 21	Yes
COL1A1_0575	c.1462-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	II	<5	30886339	Intron 21	No
COL1A1_0576	c.1462-3C>G	Intronic	SNV	Splice region	Likely Pathogenic	II	<5	25963598	Intron 21	No
COL1A1_0577	c.1462-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	III	<5	36709916	Intron 21	No
COL1A1_0578	c.1463G>T	p.Gly488Val	SNV	Missense	Likely Pathogenic	III	<5	19344236, 36709916	Exon 22	No
COL1A1_0579	c.1463G>C	p.Gly488Ala	SNV	Missense	Likely Pathogenic		<5	19344236, 34249109, 39717845	Exon 22	No
COL1A1_0580	c.1471G>A	p.Gly491Ser	SNV	Missense	Pathogenic	I, II	<5	19344236, 30886339, 31236376	Exon 22	Yes
COL1A1_0581	c.1477dup	p.Arg493Profs*18	Duplication	Frameshift	Pathogenic	I	<5	32667677	Exon 22	No
COL1A1_0582	c.1486_1487del	p.Pro496Trpfs*14	Deletion	Frameshift	Pathogenic	I	<5	7942841	Exon 22	No
COL1A1_0583	c.1491del	p.Ala498Glnfs*43	Deletion	Frameshift	Pathogenic		<5	32667677	Exon 22	No
COL1A1_0584	c.1492del	p.Ala498Glnfs*43	Deletion	Frameshift	Pathogenic		<5	32667677	Exon 22	Yes
COL1A1_0585	c.1503del	p.Ala502Leufs*39	Deletion	Frameshift	Pathogenic	I	<5	29543922	Exon 22	No
COL1A1_0586	c.1507G>A	p.Gly503Ser	SNV	Missense	Likely Pathogenic	III	<5	19344236, 28528406	Exon 22	No
COL1A1_0587	c.1508G>C	p.Gly503Ala	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 31363794	Exon 22	Yes
COL1A1_0588	c.1515+30C>G	Intronic	SNV	Intronic	Benign		<5		Intron 22	Yes
COL1A1_0589	c.1515+3A>G	Intronic	SNV	Splice region	Uncertain Significance	I	<5	9443882	Intron 22	No
COL1A1_0590	c.1516-1G>T	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	12590186	Intron 22	No
COL1A1_0591	c.1516-5A>G	Intronic	SNV	Splice region	Uncertain Significance	IV	<5	30614853	Intron 22	Yes
COL1A1_0592	c.1522G>A	p.Ala508Thr	SNV	Missense	Uncertain Significance	III	<5	27748872, 36819366, 39717845	Exon 23	Yes
COL1A1_0593	c.1524del	p.Gly509Valfs*32	Deletion	Frameshift	Pathogenic	IV	<5	30614853	Exon 23	No
COL1A1_0594	c.1525G>A	p.Gly509Ser	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 23	No
COL1A1_0595	c.1526G>T	p.Gly509Val	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 23	No
COL1A1_0596	c.1535G>A	p.Gly512Asp	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 23	No
COL1A1_0597	c.1543G>C	p.Gly515Arg	SNV	Missense	Likely Pathogenic	II	<5	19344236, 37401248	Exon 23	No
COL1A1_0598	c.1562G>A	p.Gly521Glu	SNV	Missense	Likely Pathogenic	II	<5	19344236, 30886339	Exon 23	No
COL1A1_0599	c.1579G>T	p.Gly527Cys	SNV	Missense	Likely Pathogenic	IV	<5	10608859, 11001814, 19344236, Show More >>	Exon 23	No
COL1A1_0600	c.1580G>C	p.Gly527Ala	SNV	Missense	Pathogenic	I	<5	15241796, 19344236, 32123938	Exon 23	No
COL1A1_0601	c.1583G>A	p.Arg528His	SNV	Missense	Uncertain Significance		<5	32123938, 33195954	Exon 23	Yes
COL1A1_0602	c.1587del	p.Gly530Valfs*11	Deletion	Frameshift	Pathogenic		<5	36896471	Exon 23	No
COL1A1_0603	c.1588G>A	p.Gly530Ser	SNV	Missense	Pathogenic	II, III, IV	<5	1445258, 19344236, 22589248, Show More >>	Exon 23	Yes
COL1A1_0604	c.1588G>T	p.Gly530Cys	SNV	Missense	Likely Pathogenic		<5	19344236, 24273577	Exon 23	Yes
COL1A1_0605	c.1591G>A	p.Glu531Lys	SNV	Missense	Uncertain Significance	I	<5	30614853	Exon 23	No
COL1A1_0606	c.1597G>A	p.Gly533Ser	SNV	Missense	Pathogenic		<5	19344236, 39586789	Exon 23	No
COL1A1_0607	c.1598G>A	p.Gly533Asp	SNV	Missense	Pathogenic	II	<5	11113887, 19344236, 7816518	Exon 23	Yes
COL1A1_0608	c.1601T>A	p.Leu534Gln	SNV	Missense	Uncertain Significance	IV	<5	25944380	Exon 23	Yes
COL1A1_0609	c.1605_1611del	p.Gly536Argfs*3	Deletion	Frameshift	Pathogenic		<5	38379122	Exon 23	No
COL1A1_0610	c.1607del	p.Gly536Valfs*5	Deletion	Frameshift	Pathogenic		<5	38379122	Exon 23	No
COL1A1_0611	c.1611del	p.Lys538Argfs*3	Deletion	Frameshift	Pathogenic		<5	29946973	Exon 23	No
COL1A1_0612	c.1613del	p.Lys538Argfs*3	Deletion	Frameshift	Pathogenic		<5	29946973	Exon 23	No
COL1A1_0613	c.1614+1G>A	Intronic	SNV	Splice donor	Pathogenic	I, IV	<5	29946973, 31447884, 32166892, Show More >>	Intron 23	Yes
COL1A1_0614	c.1614+1G>C	Intronic	SNV	Splice donor	Pathogenic	I	<5	25963598	Intron 23	Yes
COL1A1_0615	c.1615-2A>T	Intronic	SNV	Splice acceptor	Pathogenic	III	<5	31363794, 33154166	Intron 23	No
COL1A1_0616	c.1615-1G>T	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	26627451, 39521787	Intron 23	No
COL1A1_0617	c.1631del	p.Pro544Leufs*36	Deletion	Frameshift	Pathogenic	III	<5	29807018	Exon 24	No
COL1A1_0618	c.?	p.Gly545Gly		Missense	Uncertain Significance		<5	31204718	Exon 24	Unknown
COL1A1_0619	c.1633G>T	p.Gly545Cys	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 24	No
COL1A1_0620	c.1634G>A	p.Gly545Asp	SNV	Missense	Likely Pathogenic		<5	19344236, 31204718, 39268228	Exon 24	No
COL1A1_0621	c.1643G>C	p.Gly548Ala	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 24	No
COL1A1_0622	c.1661del	p.Gly554Alafs*26	Deletion	Frameshift	Pathogenic	I	<5	28725987	Exon 24	No
COL1A1_0623	c.1661G>C	p.Gly554Ala	SNV	Missense	Likely Pathogenic	II	<5	19344236, 21239989	Exon 24	No
COL1A1_0624	c.1663C>T	p.Pro555Ser	SNV	Missense	Likely Pathogenic		<5	32214361, 39298385	Exon 24	Yes
COL1A1_0625	c.1664C>G	p.Pro555Arg	SNV	Missense	Likely Pathogenic	I	<5	16786509, 18028452	Exon 24	Yes
COL1A1_0626	c.1667dup	p.Gly557Trpfs*30	Duplication	Frameshift	Pathogenic		<5	12590186, 34394176, 37715362, Show More >>	Exon 24	No
COL1A1_0627	c.1667del	p.Pro556Leufs*24	Deletion	Frameshift	Pathogenic	I, IV	<5	20571774, 26627451, 27186171, Show More >>	Exon 24	No
COL1A1_0628	c.1668+1G>A	Intronic	SNV	Splice donor	Pathogenic	II	<5	25963598, 33939306	Intron 24	No
COL1A1_0629	c.1668del	p.Gly557Valfs*23	Deletion	Frameshift	Pathogenic		<5	12590186, 34394176, 37715362, Show More >>	Exon 24	Yes
COL1A1_0630	c.1668+4_1668+7del	Intronic	Deletion	Splice region	Likely Pathogenic	II	<5	25963598	Intron 24	No
COL1A1_0631	c.1669-1G>C	Intronic	SNV	Splice acceptor	Pathogenic	III	<5	22753364	Intron 24	No
COL1A1_0632	c.1669-1G>A	Intronic	SNV	Splice acceptor	Pathogenic		<5	33939306	Intron 24	No
COL1A1_0633	c.1669-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	II	<5	16705691, 32502767, 34367232	Intron 24	No
COL1A1_0634	c.1670G>A	p.Gly557Asp	SNV	Missense	Pathogenic		<5	19344236, 35726512, 36352425	Exon 25	Yes
COL1A1_0635	c.1675del	p.Ala559Profs*21	Deletion	Frameshift	Pathogenic	I	<5	31447884	Exon 25	No
COL1A1_0636	c.1678G>A	p.Gly560Ser	SNV	Missense	Pathogenic	I, II, III, IV	<5	15741671, 19344236, 19751715, Show More >>	Exon 25	Yes
COL1A1_0637	c.1678G>T	p.Gly560Cys	SNV	Missense	Pathogenic	IV	<5	1895312, 19344236, 27748872, Show More >>	Exon 25	Yes
COL1A1_0638	c.1678G>C	p.Gly560Arg	SNV	Missense	Likely Pathogenic	II	<5	19344236, 8799376	Exon 25	No
COL1A1_0639	c.1679del	p.Gly560Valfs*20	Deletion	Frameshift	Pathogenic	I	<5	35822426	Exon 25	No
COL1A1_0640	c.1690C>T	p.Arg564Cys	SNV	Missense	Uncertain Significance		<5	30719581	Exon 25	Yes
COL1A1_0641	c.1691G>A	p.Arg564His	SNV	Missense	Uncertain Significance		<5	24273577	Exon 25	Yes
COL1A1_0642	c.1696G>C	p.Gly566Arg	SNV	Missense	Likely Pathogenic		<5	19344236, 21884818	Exon 25	No
COL1A1_0643	c.1696G>A	p.Gly566Arg	SNV	Missense	Likely Pathogenic		<5	19344236, 21884818	Exon 25	Yes
COL1A1_0644	c.1699C>T	p.Pro567Ser	SNV	Missense	Uncertain Significance	IV	<5	38828893	Exon 25	No
COL1A1_0645	c.1703del	p.Pro568Glnfs*12	Deletion	Frameshift	Pathogenic	I	<5	33939306, 36709916	Exon 25	No
COL1A1_0646	c.1706G>C	p.Gly569Ala	SNV	Missense	Pathogenic		<5	19344236, 31898422, 34091931	Exon 25	No
COL1A1_0647	c.1714G>C	p.Gly572Arg	SNV	Missense	Likely Pathogenic	II	<5	19344236, 30886339	Exon 25	No
COL1A1_0648	c.1718_1719insAC	p.Arg574Profs*7	Insertion	Frameshift	Pathogenic		<5	9443882	Exon 25	No
COL1A1_0649	c.1719_1720insAC	p.Arg574Thrfs*7	Insertion	Frameshift	Pathogenic		<5	9443882	Exon 25	No
COL1A1_0650	c.1720C>T	p.Arg574Cys	SNV	Missense	Uncertain Significance		<5	17206620, 17211858, 18028452, Show More >>	Exon 25	No
COL1A1_0651	c.1720del	p.Arg574Valfs*6	Deletion	Frameshift	Pathogenic		<5	9443882	Exon 25	No
COL1A1_0652	c.1721G>A	p.Arg574His	SNV	Missense	Uncertain Significance	III	<5	35647203	Exon 25	Yes
COL1A1_0653	c.?	p.Gln576His		Missense	Uncertain Significance		<5		Exon 25	Unknown
COL1A1_0654	c.1726C>T	p.Gln576*	SNV	Nonsense	Pathogenic		<5	35873455	Exon 25	No
COL1A1_0655	c.1733G>A	p.Gly578Asp	SNV	Missense	Likely Pathogenic	III	<5	19344236, 36709916	Exon 25	Yes
COL1A1_0656	c.1741G>A	p.Gly581Arg	SNV	Missense	Likely Pathogenic	II	<5	16786509, 19344236	Exon 25	Yes
COL1A1_0657	c.1742G>C	p.Gly581Ala	SNV	Missense	Likely Pathogenic	III	<5	19344236, 36709916	Exon 25	No
COL1A1_0658	c.1751G>A	p.Gly584Glu	SNV	Missense	Pathogenic		<5	19344236, 34367232	Exon 25	No
COL1A1_0659	c.1760G>A	p.Gly587Asp	SNV	Missense	Likely Pathogenic	II	<5	19344236, 37401248	Exon 25	No
COL1A1_0660	c.1767+1G>A	Intronic	SNV	Splice donor	Pathogenic	I	<5	37929041	Intron 25	Yes
COL1A1_0661	c.1767+2T>C	Intronic	SNV	Splice donor	Pathogenic	II	<5	25963598	Intron 25	No
COL1A1_0662	c.1767+5G>A	Intronic	SNV	Splice region	Uncertain Significance	IV	<5	28810924	Intron 25	No
COL1A1_0663	c.1768-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	21667357, 35463886, 9443882	Intron 25	Yes
COL1A1_0664	c.1768-3del	Intronic	Deletion	Splice region	Uncertain Significance		<5	37293821	Intron 25	No
COL1A1_0665	c.1769G>A	p.Gly590Glu	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 34940998	Exon 26	No
COL1A1_0666	c.1771G>T	p.Glu591*	SNV	Nonsense	Pathogenic	I	<5	30715774	Exon 26	Yes
COL1A1_0667	c.1771G>A	p.Glu591Lys	SNV	Missense	Uncertain Significance		<5	24273577	Exon 26	No
COL1A1_0668	c.1772_1773del	p.Glu591Alafs*42	Deletion	Frameshift	Pathogenic	I	<5	35463886	Exon 26	No
COL1A1_0669	c.1777G>T	p.Gly593Cys	SNV	Missense	Pathogenic	III, IV	<5	11286811, 1737847, 1770532, Show More >>	Exon 26	Yes
COL1A1_0670	c.1777G>A	p.Gly593Ser	SNV	Missense	Pathogenic	II, III, IV	<5	1445258, 18798308, 19344236, Show More >>	Exon 26	Yes
COL1A1_0671	c.1778G>A	p.Gly593Asp	SNV	Missense	Pathogenic	II	<5	19344236, 21239989	Exon 26	No
COL1A1_0672	c.1778G>C	p.Gly593Ala	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 26	Yes
COL1A1_0673	c.1786G>A	p.Gly596Arg	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 26	No
COL1A1_0674	c.1787G>C	p.Gly596Ala	SNV	Missense	Likely Pathogenic		<5	19344236, 27748872	Exon 26	Yes
COL1A1_0675	c.1789G>T	p.Glu597*	SNV	Nonsense	Pathogenic	I, IV	<5	31447884, 32166892	Exon 26	Yes
COL1A1_0676	c.1792C>T	p.Arg598*	SNV	Nonsense	Pathogenic	I	<5	24501682, 27044453, 30614853, Show More >>	Exon 26	Yes
COL1A1_0677	c.1797del	p.Val600Phefs*166	Deletion	Frameshift	Pathogenic	I	<5	35463886	Exon 26	Yes
COL1A1_0678	c.1803C>T	p.Pro601=	SNV	Silent	Benign		<5		Exon 26	Yes
COL1A1_0679	c.1804_1805delinsCGT	p.Gly602Argfs*32	Delins	Frameshift	Pathogenic	I	<5	37678008	Exon 26	No
COL1A1_0680	c.1804G>A	p.Gly602Arg	SNV	Missense	Pathogenic	II	<5	18996919, 19344236, 22570641, Show More >>	Exon 26	Yes
COL1A1_0681	c.1804G>T	p.Gly602*	SNV	Nonsense	Pathogenic	I	<5	35463886	Exon 26	Yes
COL1A1_0682	c.1812del	p.Gly605Alafs*161	Deletion	Frameshift	Pathogenic		<5	16705691, 35463886	Exon 26	Yes
COL1A1_0683	c.1814G>A	p.Gly605Asp	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 26	No
COL1A1_0684	c.1814del	p.Gly605Alafs*161	Deletion	Frameshift	Pathogenic		<5	16705691, 35463886	Exon 26	No
COL1A1_0685	c.1814G>C	p.Gly605Ala	SNV	Missense	Likely Pathogenic		<5	19344236, 34015290	Exon 26	No
COL1A1_0686	c.1816_1817del	p.Ala606Cysfs*27	Deletion	Frameshift	Pathogenic	I, III	<5	31447884, 35647203	Exon 26	No
COL1A1_0687	c.1821+1G>A	Intronic	SNV	Splice donor	Pathogenic	I, III, IV	<5	10931857, 28810924, 30614853, Show More >>	Intron 26	Yes
COL1A1_0688	c.1821C>T	p.Val607=	SNV	Silent	Benign		<5		Exon 26	Yes
COL1A1_0689	c.1821+1G>C	Intronic	SNV	Splice donor	Pathogenic	I	<5	31653500, 35463886	Intron 26	Yes
COL1A1_0690	c.1821+4_1821+7del	Intronic	Deletion	Splice region	Uncertain Significance	II	<5	30886339	Intron 26	No
COL1A1_0691	c.1821+1del	Intronic	Deletion	Splice donor	Pathogenic	III	<5	35647203	Intron 26	Yes
COL1A1_0692	c.1821+1G>T	Intronic	SNV	Splice donor	Pathogenic	I	<5	35463886, 9067755	Intron 26	Yes
COL1A1_0693	c.1821del	p.Gly608Valfs*158	Deletion	Frameshift	Pathogenic		<5	35463886	Exon 26	Yes
COL1A1_0694	c.1822-2A>C	Intronic	SNV	Splice acceptor	Likely Pathogenic	II	<5	25963598, 9203215	Intron 26	Yes
COL1A1_0695	c.1822G>A	p.Gly608Ser	SNV	Missense	Pathogenic		<5	19344236, 33705765, 39268228	Exon 27	No
COL1A1_0696	c.1822-1G>T	Intronic	SNV	Splice acceptor	Pathogenic		<5	35044492	Intron 26	No
COL1A1_0697	c.1822-1G>A	Intronic	SNV	Splice acceptor	Pathogenic		<5	33939306	Intron 26	Yes
COL1A1_0698	c.1822-2A>T	Intronic	SNV	Splice acceptor	Pathogenic	III	<5	28725987	Intron 26	No
COL1A1_0699	c.1822-2del	Intronic	Deletion	Splice acceptor	Pathogenic	III	<5	28725987	Intron 26	Yes
COL1A1_0700	c.1823del	p.Gly608Valfs*158	Deletion	Frameshift	Pathogenic		<5	35463886	Exon 27	No
COL1A1_0701	c.1823G>C	p.Gly608Ala	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 27	No
COL1A1_0702	c.1823G>A	p.Gly608Asp	SNV	Missense	Pathogenic		<5	19344236, 39392797	Exon 27	No
COL1A1_0703	c.1840G>C	p.Gly614Arg	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236, 38003005	Exon 27	No
COL1A1_0704	c.1845_1847del	p.Glu615_Ala616delinsAsp	Deletion	Deletion	Pathogenic	IV	<5	11286811, 19344236, 29354746, Show More >>	Exon 27	Yes
COL1A1_0705	c.1856A>T	p.Gln619Leu	SNV	Missense	Uncertain Significance		<5	36456709	Exon 27	No
COL1A1_0706	c.1860del	p.Pro622Leufs*144	Deletion	Frameshift	Pathogenic		<5	16705691	Exon 27	Yes
COL1A1_0707	c.1861C>A	p.Pro621Thr	SNV	Missense	Uncertain Significance	I	<5	35123515	Exon 27	Yes
COL1A1_0708	c.1862_1865del	p.Pro621Leufs*144	Deletion	Frameshift	Likely Pathogenic		<5	30692697	Exon 27	No
COL1A1_0709	c.1865_1866delinsG	p.Pro622Argfs*144	Delins	Frameshift	Pathogenic		<5	16705691	Exon 27	No
COL1A1_0710	c.1865dup	p.Gly623Trpfs*11	Duplication	Frameshift	Pathogenic		<5	23729740, 27748872, 8613526	Exon 27	No
COL1A1_0711	c.1865del	p.Pro622Leufs*144	Deletion	Frameshift	Pathogenic		<5	16705691	Exon 27	No
COL1A1_0712	c.1866del	p.Gly623Alafs*143	Deletion	Frameshift	Pathogenic		<5	23729740, 27748872, 8613526	Exon 27	Yes
COL1A1_0713	c.1875+3G>T	Intronic	SNV	Splice region	Uncertain Significance		<5	35252483	Intron 27	Yes
COL1A1_0714	c.1875+1G>C	Intronic	SNV	Splice donor	Pathogenic	III	<5	19283684, 23800666	Intron 27	Yes
COL1A1_0715	c.1875+41G>C	Intronic	SNV	Intronic	Benign		<5		Intron 27	Yes
COL1A1_0716	c.1875+1G>A	Intronic	SNV	Splice donor	Pathogenic	I	<5	22913777, 25086671, 28518170	Intron 27	No
COL1A1_0717	c.1876G>A	p.Gly626Ser	SNV	Missense	Pathogenic	III, IV	<5	18798308, 19344236, 22589248, Show More >>	Exon 28	Yes
COL1A1_0718	c.1876-1G>T	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	36709916	Intron 27	No
COL1A1_0719	c.1876G>T	p.Gly626Cys	SNV	Missense	Likely Pathogenic		<5	19344236, 9203215	Exon 28	No
COL1A1_0720	c.1876-1G>C	Intronic	SNV	Splice acceptor	Pathogenic	IV	<5	19491628, 25963598, 28378289	Intron 27	No
COL1A1_0721	c.1876-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I, IV	<5	11317364, 25963598, 31039433, Show More >>	Intron 27	Yes
COL1A1_0722	c.1876-2del	Intronic	Deletion	Splice acceptor	Pathogenic	I	<5	16705691, 19491628	Intron 27	No
COL1A1_0723	c.1876-2_1876-1delinsTC	Intronic	Delins	Splice acceptor	Pathogenic	IV	<5	19491628	Intron 27	No
COL1A1_0724	c.1876-44C>T	Intronic	SNV	Intronic	Benign		<5		Intron 27	Yes
COL1A1_0725	c.1876G>C	p.Gly626Arg	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 28	No
COL1A1_0726	c.1876-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	IV	<5	16786509, 19491628	Intron 27	Yes
COL1A1_0727	c.1877G>A	p.Gly626Asp	SNV	Missense	Likely Pathogenic		<5	19344236, 30408610	Exon 28	Yes
COL1A1_0728	c.1884del	p.Gly629Alafs*137	Deletion	Frameshift	Pathogenic		<5	15741671	Exon 28	Yes
COL1A1_0729	c.1885G>A	p.Gly629Ser	SNV	Missense	Likely Pathogenic		<5	19344236, 9203215	Exon 28	No
COL1A1_0730	c.1886del	p.Gly629Alafs*137	Deletion	Frameshift	Pathogenic		<5	15741671	Exon 28	No
COL1A1_0731	c.1893_1894del	p.Gly632*	Deletion	Frameshift	Pathogenic	I	<5	21667357	Exon 28	No
COL1A1_0732	c.1897G>T	p.Glu633*	SNV	Nonsense	Pathogenic	IV	<5	28810924	Exon 28	No
COL1A1_0733	c.1900C>T	p.Gln634*	SNV	Nonsense	Pathogenic	I	<5	29807018	Exon 28	Yes
COL1A1_0734	c.1903G>A	p.Gly635Ser	SNV	Missense	Likely Pathogenic		<5	19344236, 23443412	Exon 28	No
COL1A1_0735	c.1912G>A	p.Gly638Ser	SNV	Missense	Likely Pathogenic	III, IV	<5	1895312, 19344236	Exon 28	No
COL1A1_0736	c.1920dup	p.Gly641Argfs*14	Duplication	Frameshift	Pathogenic		<5	16879195, 30614853	Exon 28	No
COL1A1_0737	c.1920del	p.Gly641Aspfs*125	Deletion	Frameshift	Pathogenic		<5	16879195, 30614853	Exon 28	No
COL1A1_0738	c.1921G>A	p.Gly641Arg	SNV	Missense	Pathogenic	II	<5	19344236, 33777089, 37401248	Exon 28	Yes
COL1A1_0739	c.1922del	p.Gly641Aspfs*125	Deletion	Frameshift	Pathogenic		<5	16879195, 30614853	Exon 28	No
COL1A1_0740	c.1922G>C	p.Gly641Ala	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 28725987	Exon 28	Yes
COL1A1_0741	c.1922G>A	p.Gly641Glu	SNV	Missense	Likely Pathogenic	II	<5	19344236, 35611473	Exon 28	No
COL1A1_0742	c.1929+1G>C	Intronic	SNV	Splice donor	Pathogenic	I	<5	25963598	Intron 28	No
COL1A1_0743	c.1929+1G>A	Intronic	SNV	Splice donor	Pathogenic	I	<5	25963598	Intron 28	Yes
COL1A1_0744	c.1930-14T>C	Intronic	SNV	Intronic	Benign		<5		Intron 28	Yes
COL1A1_0745	c.1930-2A>C	Intronic	SNV	Splice acceptor	Pathogenic		<5	27748872, 39717845	Intron 28	No
COL1A1_0746	c.1930G>A	p.Gly644Ser	SNV	Missense	Pathogenic	II, III, IV	<5	19344236, 34974531	Exon 29	Yes
COL1A1_0747	c.1939G>A	p.Gly647Ser	SNV	Missense	Pathogenic	I, IV	<5	16786509, 19344236, 21567925, Show More >>	Exon 29	No
COL1A1_0748	c.1944del	p.Ala649Leufs*117	Deletion	Frameshift	Pathogenic	I	<5	16786509	Exon 29	No
COL1A1_0749	c.1951C>T	p.Pro651Ser	SNV	Missense	Uncertain Significance		<5		Exon 29	Yes
COL1A1_0750	c.1955del	p.Pro652Glnfs*114	Deletion	Frameshift	Pathogenic		<5	33939306	Exon 29	No
COL1A1_0751	c.1963G>C	p.Ala655Pro	SNV	Missense	Uncertain Significance	I	<5	30477250	Exon 29	No
COL1A1_0752	c.1966G>A	p.Gly656Ser	SNV	Missense	Pathogenic	II	<5	10627137, 11471191, 19344236, Show More >>	Exon 29	No
COL1A1_0753	c.1976G>C	p.Gly659Ala	SNV	Missense	Pathogenic	III	<5	12590186, 19344236	Exon 29	No
COL1A1_0754	c.1981C>T	p.Gln661*	SNV	Nonsense	Pathogenic	I	<5	19929435, 21912751	Exon 29	Yes
COL1A1_0755	c.1982A>T	p.Gln661Leu	SNV	Missense	Uncertain Significance		<5	15024745, 18028452	Exon 29	No
COL1A1_0756	c.1982_1983delinsTT	p.Gln661Leu	Delins	Missense	Uncertain Significance		<5	15024745, 18028452	Exon 29	No
COL1A1_0757	c.1983+1G>A	Intronic	SNV	Splice donor	Pathogenic	I, IV	<5	33475155, 36951356, 37715362	Intron 29	No
COL1A1_0758	c.1984-7_1985del	Intronic	Deletion	Splice acceptor	Pathogenic	I	<5	35073670	Intron 29	No
COL1A1_0759	c.1984-1G>A	Intronic	SNV	Splice acceptor	Likely Pathogenic	I	<5	25963598	Intron 29	Yes
COL1A1_0760	c.1984-5C>A	Intronic	SNV	Splice region	Benign	I	<5	16879195, 32461654, 35723357	Intron 29	Yes
COL1A1_0761	c.1984-43G>C	Intronic	SNV	Intronic	Benign		<5		Intron 29	Yes
COL1A1_0762	c.1984-2A>G	Intronic	SNV	Splice acceptor	Likely Pathogenic	II	<5	25963598	Intron 29	Yes
COL1A1_0763	c.1984-5del	Intronic	Deletion	Splice region	Uncertain Significance		<5	28378289	Intron 29	No
COL1A1_0764	c.1984-41G>A	Intronic	SNV	Intronic	Benign		<5		Intron 29	Yes
COL1A1_0765	c.1985G>T	p.Gly662Val	SNV	Missense	Likely Pathogenic		<5	19344236, 19781681	Exon 30	No
COL1A1_0766	c.1985del	p.Gly662Valfs*104	Deletion	Frameshift	Pathogenic	I	<5	30614853	Exon 30	No
COL1A1_0767	c.1989del	p.Pro664Leufs*102	Deletion	Frameshift	Pathogenic	I	<5	34107839	Exon 30	No
COL1A1_0768	c.1994del	p.Gly665Glufs*101	Deletion	Frameshift	Pathogenic	I	<5	15241796	Exon 30	No
COL1A1_0769	c.2002G>A	p.Gly668Ser	SNV	Missense	Likely Pathogenic	II	<5	19344236, 21239989	Exon 30	No
COL1A1_0770	c.2005G>A	p.Ala669Thr	SNV	Missense	Uncertain Significance	I, IV	<5	27519266, 34422331	Exon 30	Yes
COL1A1_0771	c.2010del	p.Gly671Alafs*95	Deletion	Frameshift	Pathogenic	I	<5	11317364, 26863094, 30715774, Show More >>	Exon 30	Yes
COL1A1_0772	c.2023_2025dup	p.Ala675dup	Duplication	Insertion	Likely Pathogenic	II	<5	19344236, 24863959	Exon 30	No
COL1A1_0773	c.2024_2028+1del	Intronic	Deletion	Splice donor	Pathogenic		<5	29595812	Exon 30	No
COL1A1_0774	c.2026A>G	p.Arg676Gly	SNV	Missense	Uncertain Significance		<5	34530633	Exon 30	No
COL1A1_0775	c.2028+1G>A	Intronic	SNV	Splice donor	Pathogenic	III	<5	29807018	Intron 30	No
COL1A1_0776	c.2028+39C>T	Intronic	SNV	Intronic	Benign		<5		Intron 30	Yes
COL1A1_0777	c.2028+2T>G	Intronic	SNV	Splice donor	Pathogenic	I	<5	15241796	Intron 30	Yes
COL1A1_0778	c.2028+4A>G	Intronic	SNV	Splice region	Uncertain Significance		<5	35346302	Intron 30	No
COL1A1_0779	c.2029-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	III	<5	29807018	Intron 30	No
COL1A1_0780	c.2032G>A	p.Glu678Lys	SNV	Missense	Likely Pathogenic		<5	35128800	Exon 31	Yes
COL1A1_0781	c.2032G>T	p.Glu678*	SNV	Nonsense	Pathogenic	I	<5	12590186	Exon 31	Yes
COL1A1_0782	c.2037_2038del	p.Gly680Phefs*29	Deletion	Frameshift	Pathogenic		<5	22753364, 30715774	Exon 31	No
COL1A1_0783	c.2039del	p.Gly680Valfs*86	Deletion	Frameshift	Pathogenic		<5	22753364, 30715774	Exon 31	No
COL1A1_0784	c.2039G>A	p.Gly680Asp	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 31	Yes
COL1A1_0785	c.2046_2047insCTCTCTAG	p.Gly683Leufs*86	Insertion	Frameshift	Pathogenic	I	<5	12590186	Exon 31	No
COL1A1_0786	c.2047G>T	p.Gly683Cys	SNV	Missense	Likely Pathogenic	IV	<5	16879195, 19344236	Exon 31	No
COL1A1_0787	c.2050G>A	p.Glu684Lys	SNV	Missense	Uncertain Significance		<5	27023906, 31188027, 33693443	Exon 31	Yes
COL1A1_0788	c.2057G>C	p.Gly686Ala	SNV	Missense	Likely Pathogenic	III	<5	19344236, 19491628	Exon 31	No
COL1A1_0789	c.2066G>A	p.Gly689Asp	SNV	Missense	Likely Pathogenic	II	<5	19344236, 25289482	Exon 31	No
COL1A1_0790	c.2069C>T	p.Pro690Leu	SNV	Missense	Likely Benign	III	<5	35647203	Exon 31	Yes
COL1A1_0791	c.2072del	p.Pro691Leufs*75	Deletion	Frameshift	Pathogenic	I	<5	11317364	Exon 31	No
COL1A1_0792	c.2073del	p.Gly692Valfs*74	Deletion	Frameshift	Pathogenic	I	<5	29946973, 31039433, 31794058, Show More >>	Exon 31	Yes
COL1A1_0793	c.2075G>C	p.Gly692Ala	SNV	Missense	Pathogenic	III	<5	19344236, 32234057, 39717845	Exon 31	Yes
COL1A1_0794	c.2083G>A	p.Gly695Ser	SNV	Missense	Likely Pathogenic	II	<5	19344236, 25289482	Exon 31	No
COL1A1_0795	c.2084del	p.Gly695Valfs*71	Deletion	Frameshift	Pathogenic	I	<5	24296239	Exon 31	No
COL1A1_0796	c.2089C>T	p.Arg697*	SNV	Nonsense	Pathogenic	I, IV	<5	15095409, 21667357, 23729740, Show More >>	Exon 31	Yes
COL1A1_0797	c.2090G>A	p.Arg697Gln	SNV	Missense	Uncertain Significance		<5	35586626	Exon 31	Yes
COL1A1_0798	c.2097del	p.Asn700Thrfs*66	Deletion	Frameshift	Pathogenic	I	<5	15024745	Exon 31	No
COL1A1_0799	c.2101G>A	p.Gly701Ser	SNV	Missense	Pathogenic	III	<5	19344236, 25086671, 28528406, Show More >>	Exon 31	Yes
COL1A1_0800	c.2101G>T	p.Gly701Cys	SNV	Missense	Pathogenic	III, IV	<5	19344236, 22589248, 31447884, Show More >>	Exon 31	No
COL1A1_0801	c.2102G>T	p.Gly701Val	SNV	Missense	Pathogenic	II	<5	19344236, 32627857	Exon 31	No
COL1A1_0802	c.2110G>T	p.Gly704Cys	SNV	Missense	Pathogenic	III, IV	<5	1613761, 1737847, 1770532, Show More >>	Exon 31	Yes
COL1A1_0803	c.2110G>A	p.Gly704Ser	SNV	Missense	Pathogenic	II, III	<5	11317364, 19344236, 21239989, Show More >>	Exon 31	Yes
COL1A1_0804	c.2115C>T	p.Asn705=	SNV	Silent	Likely Benign		<5		Exon 31	Yes
COL1A1_0805	c.2127+2T>A	Intronic	SNV	Splice donor	Pathogenic		<5	23054245, 31427586	Intron 31	Yes
COL1A1_0806	c.2127+2T>G	Intronic	SNV	Splice donor	Pathogenic	I	<5	15241796	Intron 31	No
COL1A1_0807	c.2127+1G>C	Intronic	SNV	Splice donor	Pathogenic	IV	<5	30715774	Intron 31	No
COL1A1_0808	c.2127+128G>C	Intronic	SNV	Intronic	Benign		<5		Intron 31	Yes
COL1A1_0809	c.2128-2A>C	Intronic	SNV	Splice acceptor	Pathogenic		<5	37715362	Intron 31	No
COL1A1_0810	c.2128-14T>A	Intronic	SNV	Intronic	Uncertain Significance		<5	29499418	Intron 31	No
COL1A1_0811	c.2128-2del	Intronic	Deletion	Splice acceptor	Pathogenic		<5	35726512	Intron 31	No
COL1A1_0812	c.2137G>C	p.Gly713Arg	SNV	Missense	Pathogenic	II	<5	19344236, 36478645	Exon 32	No
COL1A1_0813	c.2145del	p.Gly716Glufs*50	Deletion	Frameshift	Pathogenic	I	<5	30715774	Exon 32	No
COL1A1_0814	c.2155G>A	p.Gly719Ser	SNV	Missense	Pathogenic	III	<5	19344236, 21667357, 24668929, Show More >>	Exon 32	Yes
COL1A1_0815	c.2155G>T	p.Gly719Cys	SNV	Missense	Likely Pathogenic		<5	19344236, 32123938	Exon 32	Yes
COL1A1_0816	c.2156G>A	p.Gly719Asp	SNV	Missense	Likely Pathogenic	II	<5	19344236, 2035536, 9067755	Exon 32	Yes
COL1A1_0817	c.2164G>A	p.Gly722Ser	SNV	Missense	Pathogenic	I	<5	16705691, 19344236, 30266093, Show More >>	Exon 32	Yes
COL1A1_0818	c.2165G>C	p.Gly722Ala	SNV	Missense	Likely Pathogenic	I	<5	19344236, 31429852	Exon 32	No
COL1A1_0819	c.2167G>A	p.Ala723Thr	SNV	Missense	Likely Benign		<5	36930409	Exon 32	Yes
COL1A1_0820	c.2168C>T	p.Ala723Val	SNV	Missense	Likely Benign	IV	<5	24668929	Exon 32	Yes
COL1A1_0821	c.2172del	p.Gly725Alafs*41	Deletion	Frameshift	Pathogenic		<5	33939306	Exon 32	Yes
COL1A1_0822	c.2174G>T	p.Gly725Val	SNV	Missense	Pathogenic	II	<5	19344236, 39268228	Exon 32	No
COL1A1_0823	c.2175C>T	p.Gly725=	SNV	Silent	Benign		<5		Exon 32	Yes
COL1A1_0824	c.2179C>T	p.Gln727*	SNV	Nonsense	Pathogenic	IV	<5	31447884	Exon 32	Yes
COL1A1_0825	c.2182G>A	p.Gly728Arg	SNV	Missense	Pathogenic	II	<5	1460046, 1613761, 1718984, Show More >>	Exon 32	No
COL1A1_0826	c.2183G>A	p.Gly728Glu	SNV	Missense	Likely Pathogenic		<5	19344236, 27748872	Exon 32	No
COL1A1_0827	c.2192G>T	p.Gly731Val	SNV	Missense	Pathogenic	II	<5	19344236, 21239989, 38226081	Exon 32	No
COL1A1_0828	c.2192G>C	p.Gly731Ala	SNV	Missense	Pathogenic	III	<5	19344236, 25742658, 30715774, Show More >>	Exon 32	Yes
COL1A1_0829	c.2192G>A	p.Gly731Asp	SNV	Missense	Likely Pathogenic	II	<5	19344236, 38226081	Exon 32	Yes
COL1A1_0830	c.2196del	p.Glu732Aspfs*34	Deletion	Frameshift	Likely Pathogenic	IV	<5	31447884	Exon 32	No
COL1A1_0831	c.2197C>T	p.Arg733Cys	SNV	Missense	Uncertain Significance		<5	36896471	Exon 32	Yes
COL1A1_0832	c.2201G>T	p.Gly734Val	SNV	Missense	Likely Pathogenic	II	<5	16786509, 19344236	Exon 32	No
COL1A1_0833	c.2209G>A	p.Gly737Ser	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 32	No
COL1A1_0834	c.2209G>T	p.Gly737Cys	SNV	Missense	Pathogenic	IV	<5	11286811, 19344236	Exon 32	No
COL1A1_0835	c.2210G>C	p.Gly737Ala	SNV	Missense	Likely Pathogenic		<5	19344236, 31039433	Exon 32	No
COL1A1_0836	c.2215C>G	p.Pro739Ala	SNV	Missense	Uncertain Significance		<5	35422809	Exon 32	Yes
COL1A1_0837	c.2216C>T	p.Pro739Leu	SNV	Missense	Uncertain Significance		<5		Exon 32	Yes
COL1A1_0838	c.2217dup	p.Gly740Argfs*3	Duplication	Frameshift	Likely Pathogenic		<5	36853784	Exon 32	No
COL1A1_0839	c.2218G>C	p.Gly740Arg	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 32	No
COL1A1_0840	c.2227G>A	p.Gly743Ser	SNV	Missense	Likely Pathogenic	II	<5	1445258, 1634225, 19344236, Show More >>	Exon 32	No
COL1A1_0841	c.2228G>A	p.Gly743Asp	SNV	Missense	Likely Pathogenic	II	<5	19344236, 21239989	Exon 32	No
COL1A1_0842	c.2228G>T	p.Gly743Val	SNV	Missense	Pathogenic	II	<5	19344236, 8100209, 9067755	Exon 32	Yes
COL1A1_0843	c.2235+1G>A	Intronic	SNV	Splice donor	Likely Pathogenic	I, II, III	<5	25963598, 27510842, 28498836, Show More >>	Intron 32	Yes
COL1A1_0844	c.2235+5G>C	Intronic	SNV	Splice region	Uncertain Significance	I, IV	<5	36951356	Intron 32	Yes
COL1A1_0845	c.2235_2235+1del	Intronic	Deletion	Splice donor	Pathogenic	I	<5	21667357, 31363794	Exon 32	No
COL1A1_0846	c.2236G>T	p.Gly746Cys	SNV	Missense	Likely Pathogenic		<5	19344236, 36622688	Exon 33	No
COL1A1_0847	c.2236-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	27519266	Intron 32	No
COL1A1_0848	c.2245G>A	p.Gly749Ser	SNV	Missense	Likely Pathogenic	I	<5	19344236, 25086671	Exon 33	Yes
COL1A1_0849	c.2250del	p.Gly752Valfs*14	Deletion	Frameshift	Pathogenic		<5	28725987	Exon 33	No
COL1A1_0850	c.2253del	p.Gly752Valfs*14	Deletion	Frameshift	Pathogenic		<5	28725987	Exon 33	No
COL1A1_0851	c.2263G>A	p.Gly755Ser	SNV	Missense	Pathogenic	II, III, IV	<5	19344236, 30715774, 34091931	Exon 33	No
COL1A1_0852	c.2268_2269del	p.Pro757Trpfs*23	Deletion	Frameshift	Pathogenic		<5	15241796	Exon 33	No
COL1A1_0853	c.2268_2269dup	p.Pro757Leufs*10	Duplication	Frameshift	Pathogenic		<5	15241796	Exon 33	No
COL1A1_0854	c.2270del	p.Pro757Leufs*9	Deletion	Frameshift	Pathogenic		<5	15241796	Exon 33	No
COL1A1_0855	c.2272G>A	p.Gly758Ser	SNV	Missense	Likely Pathogenic	I	<5	19344236, 33470886	Exon 33	No
COL1A1_0856	c.2273G>C	p.Gly758Ala	SNV	Missense	Likely Pathogenic		<5	19344236, 31039433	Exon 33	No
COL1A1_0857	c.2280T>A	p.Asp760Glu	SNV	Missense	Uncertain Significance	I	<5	28725987, 35586626	Exon 33	No
COL1A1_0858	c.2281G>C	p.Gly761Arg	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 33	No
COL1A1_0859	c.2281G>A	p.Gly761Ser	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 27519266	Exon 33	No
COL1A1_0860	c.2282G>A	p.Gly761Asp	SNV	Missense	Pathogenic		<5	19344236, 29955634	Exon 33	Yes
COL1A1_0861	c.2285del	p.Val762Alafs*4	Deletion	Frameshift	Pathogenic	I	<5	30614853	Exon 33	No
COL1A1_0862	c.2288G>C	p.Arg763Pro	SNV	Missense	Uncertain Significance		<5	31061748	Exon 33	No
COL1A1_0863	c.2288G>A	p.Arg763His	SNV	Missense	Uncertain Significance		<5	28087566	Exon 33	Yes
COL1A1_0864	c.2290G>A	p.Gly764Ser	SNV	Missense	Likely Pathogenic	II	<5	19344236, 21239989	Exon 33	No
COL1A1_0865	c.2291G>T	p.Gly764Val	SNV	Missense	Pathogenic	II, III	<5	19344236, 7881420, 9143923	Exon 33	Yes
COL1A1_0866	c.2297C>G	p.Thr766Ser	SNV	Missense	Uncertain Significance		<5	27748872, 39717845	Exon 33	No
COL1A1_0867	c.2298T>C	p.Thr766=	SNV	Silent	Benign		<5		Exon 33	Yes
COL1A1_0868	c.2298T>G	p.Thr766=	SNV	Silent	Benign		<5		Exon 33	No
COL1A1_0869	c.2299G>A	p.Gly767Ser	SNV	Missense	Pathogenic	I, II, III, IV	<5	12538651, 15024745, 15241796, Show More >>	Exon 33	Yes
COL1A1_0870	c.2300G>T	p.Gly767Val	SNV	Missense	Pathogenic		<5	19344236, 36140746, 39268228	Exon 33	No
COL1A1_0871	c.2300G>A	p.Gly767Asp	SNV	Missense	Likely Pathogenic	II	<5	19344236, 20946018	Exon 33	No
COL1A1_0872	c.2308G>A	p.Gly770Ser	SNV	Missense	Likely Pathogenic	III	<5	15741671, 19344236	Exon 33	No
COL1A1_0873	c.2308G>T	p.Gly770Cys	SNV	Missense	Likely Pathogenic	II	<5	19344236, 21239989, 25958000	Exon 33	No
COL1A1_0874	c.2317G>A	p.Gly773Ser	SNV	Missense	Pathogenic	III, IV	<5	19344236, 22031238, 25958000	Exon 33	No
COL1A1_0875	c.2317G>C	p.Gly773Arg	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 33	No
COL1A1_0876	c.2317G>T	p.Gly773Cys	SNV	Missense	Pathogenic	II	<5	19344236, 28810924	Exon 33	Yes
COL1A1_0877	c.2319_2320insAC	p.Pro774Thrfs*335	Insertion	Frameshift	Pathogenic		<5	26307460, 37715362	Exon 33	No
COL1A1_0878	c.2321del	p.Pro774Leufs*334	Deletion	Frameshift	Pathogenic		<5	26307460, 37715362	Exon 33	No
COL1A1_0879	c.2326G>A	p.Gly776Ser	SNV	Missense	Likely Pathogenic		<5	1445258, 1634225, 19344236	Exon 33	No
COL1A1_0880	c.2329del	p.Ala777Profs*331	Deletion	Frameshift	Pathogenic	I	<5	26634493	Exon 33	No
COL1A1_0881	c.2329G>C	p.Ala777Pro	SNV	Missense	Uncertain Significance		<5	18431533, 19797236, 20679339	Exon 33	No
COL1A1_0882	c.2334del	p.Gly779Valfs*329	Deletion	Frameshift	Pathogenic	III	<5	30614853	Exon 33	Yes
COL1A1_0883	c.2335G>A	p.Gly779Ser	SNV	Missense	Pathogenic	III, IV	<5	19344236, 21667357, 30715774, Show More >>	Exon 33	Yes
COL1A1_0884	c.2336G>A	p.Gly779Asp	SNV	Missense	Pathogenic	II	<5	19344236, 32690443	Exon 33	No
COL1A1_0885	c.2344-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	35855543	Intron 33	Yes
COL1A1_0886	c.2347G>T	p.Glu783*	SNV	Nonsense	Pathogenic	I	<5	31363794	Exon 34	No
COL1A1_0887	c.2362G>A	p.Gly788Ser	SNV	Missense	Pathogenic	I, II, III, IV	<5	19344236, 29595812, 30715774, Show More >>	Exon 34	Yes
COL1A1_0888	c.2362_2384del	p.Gly788Serfs*9	Deletion	Frameshift	Pathogenic	I	<5	22753364	Exon 34	No
COL1A1_0889	c.2362G>T	p.Gly788Cys	SNV	Missense	Likely Pathogenic	IV	<5	15241796, 19344236, 25958000	Exon 34	No
COL1A1_0890	c.?	p.Gly794Gly		Missense	Uncertain Significance	IV	<5	27132807	Exon 34	Unknown
COL1A1_0891	c.2385_2395del	p.Gly797Argfs*4	Deletion	Frameshift	Pathogenic		<5	24070816, 26627451	Exon 34	No
COL1A1_0892	c.2386C>T	p.Arg796Cys	SNV	Missense	Uncertain Significance		<5	35903967, 35918752	Exon 34	Yes
COL1A1_0893	c.2390del	p.Gly797Valfs*311	Deletion	Frameshift	Pathogenic		<5	24070816, 26627451	Exon 34	No
COL1A1_0894	c.2393C>T	p.Ala798Val	SNV	Missense	Uncertain Significance		<5		Exon 34	Yes
COL1A1_0895	c.2397del	p.Gly800Glufs*308	Deletion	Frameshift	Pathogenic		<5	31447884	Exon 34	No
COL1A1_0896	c.2397dup	p.Gly800Argfs*5	Duplication	Frameshift	Pathogenic		<5	31447884	Exon 34	No
COL1A1_0897	c.2397+2T>C	Intronic	SNV	Splice donor	Pathogenic	IV	<5	34940998	Intron 34	No
COL1A1_0898	c.2398-2_2406del	Intronic	Deletion	Splice acceptor	Likely Pathogenic	IV	<5	31737030	Intron 34	No
COL1A1_0899	c.2398-1G>C	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	36338653	Intron 34	Yes
COL1A1_0900	c.2399G>A	p.Gly800Glu	SNV	Missense	Pathogenic		<5	19344236, 31130284, 36352425	Exon 35	No
COL1A1_0901	c.2410G>T	p.Glu804*	SNV	Nonsense	Pathogenic		<5	27748872	Exon 35	No
COL1A1_0902	c.2418del	p.Gly809Alafs*299	Deletion	Frameshift	Pathogenic		<5	21667357, 30715774	Exon 35	Yes
COL1A1_0903	c.2424del	p.Gly809Alafs*299	Deletion	Frameshift	Pathogenic		<5	21667357, 30715774	Exon 35	No
COL1A1_0904	c.2424dup	p.Gly809Argfs*12	Duplication	Frameshift	Pathogenic		<5	21667357, 30715774	Exon 35	No
COL1A1_0905	c.2425G>A	p.Gly809Ser	SNV	Missense	Likely Pathogenic	II	<5	1634225, 18996919, 19344236	Exon 35	Yes
COL1A1_0906	c.2426dup	p.Ala811Cysfs*10	Duplication	Frameshift	Pathogenic	I	<5	29150909, 32667677	Exon 35	No
COL1A1_0907	c.2427C>G	p.Gly809=	SNV	Silent	Uncertain Significance		<5	27335225	Exon 35	Yes
COL1A1_0908	c.2434G>A	p.Gly812Ser	SNV	Missense	Pathogenic	III, IV	<5	19344236, 30614853, 31447884	Exon 35	Yes
COL1A1_0909	c.2443G>A	p.Gly815Ser	SNV	Missense	Pathogenic	III, IV	<5	19344236, 31414283, 35647203	Exon 35	No
COL1A1_0910	c.2444del	p.Gly815Alafs*293	Deletion	Frameshift	Pathogenic	I	<5	17875077, 35052464	Exon 35	No
COL1A1_0911	c.2444G>T	p.Gly815Val	SNV	Missense	Likely Pathogenic	II	<5	1874719, 19344236, 24273577	Exon 35	Yes
COL1A1_0912	c.2444G>C	p.Gly815Ala	SNV	Missense	Pathogenic		<5	19344236, 33942288, 39268228	Exon 35	Yes
COL1A1_0913	c.2449C>G	p.Pro817Ala	SNV	Missense	Uncertain Significance		<5		Exon 35	Yes
COL1A1_0914	c.2450del	p.Pro817Leufs*291	Deletion	Frameshift	Pathogenic	I	<5	27059743, 27748872, 28725987, Show More >>	Exon 35	No
COL1A1_0915	c.2450dup	p.Gly818Trpfs*3	Duplication	Frameshift	Pathogenic		<5	15241796, 34384838, 8808594	Exon 35	No
COL1A1_0916	c.2451del	p.Gly818Valfs*290	Deletion	Frameshift	Pathogenic		<5	15241796, 34384838, 8808594	Exon 35	Yes
COL1A1_0917	c.2451+1G>A	Intronic	SNV	Splice donor	Pathogenic	III	<5	35647203	Intron 35	No
COL1A1_0918	c.2451+77C>T	Intronic	SNV	Intronic	Likely Pathogenic	II	<5	20398331, 39711104	Intron 35	No
COL1A1_0919	c.2451dup	p.Gly818Trpfs*3	Duplication	Frameshift	Pathogenic		<5	15241796, 34384838, 8808594	Exon 35	No
COL1A1_0920	c.2451+5G>A	Intronic	SNV	Splice region	Likely Pathogenic	I, III	<5	25963598, 30715774, 37352859	Intron 35	Yes
COL1A1_0921	c.2451T>C	p.Pro817=	SNV	Silent	Likely Benign		<5	35723357	Exon 35	Yes
COL1A1_0922	c.2451+2T>G	Intronic	SNV	Splice donor	Pathogenic	I	<5	31363794	Intron 35	No
COL1A1_0923	c.2451+94G>T	Intronic	SNV	Intronic	Uncertain Significance		<5	19358256	Intron 35	No
COL1A1_0924	c.2452-2A>C	Intronic	SNV	Splice acceptor	Likely Pathogenic		<5		Intron 35	No
COL1A1_0925	c.2452G>T	p.Gly818Cys	SNV	Missense	Likely Pathogenic	II	<5	19344236, 28817112	Exon 36	No
COL1A1_0926	c.2452-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	16705691, 32123938, 33470886, Show More >>	Intron 35	Yes
COL1A1_0927	c.2452-2A>T	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	25324685, 25963598, 36305178	Intron 35	No
COL1A1_0928	c.2452-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	15241796, 25963598	Intron 35	Yes
COL1A1_0929	c.2452-1G>T	Intronic	SNV	Splice acceptor	Likely Pathogenic		<5		Intron 35	No
COL1A1_0930	c.2453del	p.Gly818Valfs*290	Deletion	Frameshift	Pathogenic		<5	15241796, 34384838, 8808594	Exon 36	No
COL1A1_0931	c.2461G>A	p.Gly821Ser	SNV	Missense	Pathogenic	I, III, IV	<5	16705691, 16879195, 19344236, Show More >>	Exon 36	Yes
COL1A1_0932	c.2461G>C	p.Gly821Arg	SNV	Missense	Pathogenic	II	<5	19344236, 21239989	Exon 36	No
COL1A1_0933	c.2464C>T	p.Gln822*	SNV	Nonsense	Pathogenic	I	<5	17392686, 33939306	Exon 36	No
COL1A1_0934	c.2467C>G	p.Pro823Ala	SNV	Missense	Uncertain Significance		<5	31914141, 33161638	Exon 36	Yes
COL1A1_0935	c.2470G>C	p.Gly824Arg	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 36	No
COL1A1_0936	c.2471G>C	p.Gly824Ala	SNV	Missense	Likely Pathogenic	II	<5	19344236, 21239989	Exon 36	No
COL1A1_0937	c.2477_2478del	p.Lys826Argfs*5	Deletion	Frameshift	Pathogenic		<5	33939306	Exon 36	No
COL1A1_0938	c.2480G>A	p.Gly827Asp	SNV	Missense	Likely Pathogenic	II	<5	15741671, 19344236	Exon 36	No
COL1A1_0939	c.2482G>A	p.Glu828Lys	SNV	Missense	Uncertain Significance	I	<5	30614853	Exon 36	Yes
COL1A1_0940	c.2483_2485delinsG	p.Glu828Glyfs*3	Delins	Frameshift	Pathogenic	I	<5	33475155, 36951356	Exon 36	No
COL1A1_0941	c.2497G>A	p.Gly833Ser	SNV	Missense	Likely Pathogenic		<5	19344236, 24486247	Exon 36	No
COL1A1_0942	c.2498G>A	p.Gly833Asp	SNV	Missense	Likely Pathogenic	II	<5	16566045, 19344236	Exon 36	No
COL1A1_0943	c.2498G>T	p.Gly833Val	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 36	No
COL1A1_0944	c.2509_2559+9del	Intronic	Deletion	Splice donor	Pathogenic	II	<5	18996919	Exon 36	No
COL1A1_0945	c.2510_2525del	p.Asp837Alafs*266	Deletion	Frameshift	Pathogenic	I	<5	23729740, 8808594	Exon 36	No
COL1A1_0946	c.2515G>C	p.Gly839Arg	SNV	Missense	Likely Pathogenic	II	<5	19344236, 30886339	Exon 36	No
COL1A1_0947	c.2515G>A	p.Gly839Ser	SNV	Missense	Pathogenic	III	<5	19344236, 39717845, 8786074	Exon 36	Yes
COL1A1_0948	c.2522del	p.Pro841Leufs*267	Deletion	Frameshift	Pathogenic	I	<5	28436160, 29552444	Exon 36	No
COL1A1_0949	c.2523del	p.Gly842Alafs*266	Deletion	Frameshift	Pathogenic		<5	11317364, 23729740, 26627451, Show More >>	Exon 36	Yes
COL1A1_0950	c.2524G>C	p.Gly842Arg	SNV	Missense	Likely Pathogenic	II	<5	19344236, 7487936	Exon 36	No
COL1A1_0951	c.2525del	p.Gly842Alafs*266	Deletion	Frameshift	Pathogenic		<5	11317364, 23729740, 26627451, Show More >>	Exon 36	No
COL1A1_0952	c.2533G>A	p.Gly845Arg	SNV	Missense	Pathogenic	II	<5	12538651, 1613761, 1718984, Show More >>	Exon 36	Yes
COL1A1_0953	c.2534G>A	p.Gly845Glu	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 36	No
COL1A1_0954	c.2542G>C	p.Gly848Arg	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 36	Yes
COL1A1_0955	c.2550dup	p.Gly851Trpfs*5	Duplication	Frameshift	Pathogenic		<5	15241796, 31447884	Exon 36	No
COL1A1_0956	c.2550del	p.Gly851Alafs*257	Deletion	Frameshift	Pathogenic		<5	15241796, 31447884	Exon 36	Yes
COL1A1_0957	c.2552G>A	p.Gly851Asp	SNV	Missense	Pathogenic	II	<5	19344236, 21239989	Exon 36	Yes
COL1A1_0958	c.2559+1G>A	Intronic	SNV	Splice donor	Pathogenic	I, III	<5	21667357, 31429852	Intron 36	Yes
COL1A1_0959	c.2559+5G>T	Intronic	SNV	Splice region	Uncertain Significance	I	<5	33475155, 36951356	Intron 36	Yes
COL1A1_0960	c.2560-18C>G	Intronic	SNV	Intronic	Benign		<5		Intron 36	Yes
COL1A1_0961	c.2560-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	25963598, 29807018	Intron 36	Yes
COL1A1_0962	c.2560G>A	p.Gly854Ser	SNV	Missense	Pathogenic	I, IV	<5	19344236, 27748872, 30715774, Show More >>	Exon 37	Yes
COL1A1_0963	c.2562_2565dup	p.Val856*	Duplication	Frameshift	Pathogenic	I	<5	30715774	Exon 37	No
COL1A1_0964	c.2563A>C	p.Asn855His	SNV	Missense	Uncertain Significance	II	<5	18996919	Exon 37	No
COL1A1_0965	c.2563_2565dup	p.Asn855dup	Duplication	Insertion	Likely Pathogenic	III, IV	<5	11668615, 19344236	Exon 37	No
COL1A1_0966	c.2569G>T	p.Gly857Cys	SNV	Missense	Pathogenic	III	<5	19344236, 25742658, 29499418, Show More >>	Exon 37	Yes
COL1A1_0967	c.2570G>C	p.Gly857Ala	SNV	Missense	Likely Pathogenic	III	<5	19344236, 36709916	Exon 37	No
COL1A1_0968	c.2573C>G	p.Ala858Gly	SNV	Missense	Uncertain Significance		<5	34422331	Exon 37	Yes
COL1A1_0969	c.2574del	p.Pro859Leufs*249	Deletion	Frameshift	Pathogenic	I	<5	31363794	Exon 37	No
COL1A1_0970	c.2588G>T	p.Gly863Val	SNV	Missense	Likely Pathogenic	II	<5	19344236, 21239989	Exon 37	Yes
COL1A1_0971	c.2594dup	p.Gly866Argfs*47	Duplication	Frameshift	Pathogenic	I	<5	22753364	Exon 37	No
COL1A1_0972	c.2596G>A	p.Gly866Ser	SNV	Missense	Pathogenic	II, III, IV	<5	10408781, 11286811, 18670065, Show More >>	Exon 37	Yes
COL1A1_0973	c.2596G>T	p.Gly866Cys	SNV	Missense	Likely Pathogenic	III	<5	11317364, 19344236, 24273577	Exon 37	No
COL1A1_0974	c.2605G>T	p.Gly869Cys	SNV	Missense	Pathogenic	II	<5	19344236, 1953667, 35583673, Show More >>	Exon 37	Yes
COL1A1_0975	c.2612dup	p.Gly872Trpfs*41	Duplication	Frameshift	Pathogenic		<5	9443882	Exon 37	No
COL1A1_0976	c.2612del	p.Pro871Leufs*237	Deletion	Frameshift	Pathogenic		<5	25086671, 29946973, 32123938	Exon 37	No
COL1A1_0977	c.2612_2613del	p.Pro871Argfs*41	Deletion	Frameshift	Pathogenic		<5	25086671, 29946973, 32123938	Exon 37	No
COL1A1_0978	c.2613+6T>C	Intronic	SNV	Splice region	Likely Pathogenic	III, IV	<5	30715774, 31447884, 31737030, Show More >>	Intron 37	No
COL1A1_0979	c.2613+5G>A	Intronic	SNV	Splice region	Likely Pathogenic		<5	34091931	Intron 37	No
COL1A1_0980	c.2613del	p.Gly872Valfs*236	Deletion	Frameshift	Pathogenic		<5	9443882	Exon 37	No
COL1A1_0981	c.2613+9C>T	Intronic	SNV	Intronic	Uncertain Significance	III	<5	31737030	Intron 37	No
COL1A1_0982	c.2614-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I, IV	<5	32166892, 32667677	Intron 37	No
COL1A1_0983	c.2614-1G>T	Intronic	SNV	Splice acceptor	Pathogenic		<5	33939306	Intron 37	No
COL1A1_0984	c.2615G>C	p.Gly872Ala	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 25086671	Exon 38	No
COL1A1_0985	c.2623G>A	p.Gly875Ser	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 38	No
COL1A1_0986	c.2633G>A	p.Gly878Asp	SNV	Missense	Likely Pathogenic	I	<5	19344236, 23918677, 28668235	Exon 38	No
COL1A1_0987	c.2644C>T	p.Arg882*	SNV	Nonsense	Pathogenic	I, IV	<5	15241796, 16786509, 21667357, Show More >>	Exon 38	Yes
COL1A1_0988	c.2645_2663dup	p.Gly890Argfs*29	Duplication	Frameshift	Pathogenic	I	<5	25086671	Exon 38	No
COL1A1_0989	c.2646_2647del	p.Val883Argfs*29	Deletion	Frameshift	Pathogenic	I	<5	15241796	Exon 38	No
COL1A1_0990	c.2650G>A	p.Gly884Ser	SNV	Missense	Pathogenic	II	<5	18996919, 19344236	Exon 38	Yes
COL1A1_0991	c.2655_2663del	p.Pro886_Pro888del	Deletion	Deletion	Likely Pathogenic	III	<5	15024745, 19344236	Exon 38	No
COL1A1_0992	c.2664dup	p.Ser889Leufs*24	Duplication	Frameshift	Likely Pathogenic		<5	36853784	Exon 38	No
COL1A1_0993	c.2667+2T>C	Intronic	SNV	Splice donor	Pathogenic	I	<5	36709916	Intron 38	No
COL1A1_0994	c.2667+1G>C	Intronic	SNV	Splice donor	Pathogenic	I	<5	31363794, 33154166	Intron 38	Yes
COL1A1_0995	c.2667+1G>A	Intronic	SNV	Splice donor	Pathogenic	I	<5	16879195, 35044492	Intron 38	Yes
COL1A1_0996	c.2668-1G>C	Intronic	SNV	Splice acceptor	Pathogenic		<5	33939306	Intron 38	No
COL1A1_0997	c.2669G>C	p.Gly890Ala	SNV	Missense	Likely Pathogenic		<5	19344236, 35909573	Exon 39	Yes
COL1A1_0998	c.2684dup	p.Gly896Trpfs*17	Duplication	Frameshift	Pathogenic		<5	29635034, 38666931	Exon 39	No
COL1A1_0999	c.2684del	p.Pro895Leufs*213	Deletion	Frameshift	Pathogenic	IV	<5	11317364	Exon 39	No
COL1A1_1000	c.2685del	p.Gly896Alafs*212	Deletion	Frameshift	Pathogenic		<5	29635034, 38666931	Exon 39	Yes
COL1A1_1001	c.2686G>T	p.Gly896Cys	SNV	Missense	Pathogenic	II	<5	1460046, 1613761, 1737847, Show More >>	Exon 39	Yes
COL1A1_1002	c.2687G>A	p.Gly896Asp	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 39	No
COL1A1_1003	c.2704G>A	p.Gly902Ser	SNV	Missense	Likely Pathogenic	I	<5	19344236, 30715774	Exon 39	Yes
COL1A1_1004	c.2709del	p.Glu904Lysfs*204	Deletion	Frameshift	Pathogenic		<5	32667677	Exon 39	No
COL1A1_1005	c.2710del	p.Glu904Lysfs*204	Deletion	Frameshift	Pathogenic		<5	32667677	Exon 39	No
COL1A1_1006	c.2716G>A	p.Gly906Ser	SNV	Missense	Likely Benign		<5	19344236, 35274497	Exon 39	Yes
COL1A1_1007	c.2717dup	p.Lys907Glnfs*6	Duplication	Frameshift	Pathogenic	I	<5	31363794	Exon 39	No
COL1A1_1008	c.2725_2733del	p.Pro909_Gly911del	Deletion	Deletion	Pathogenic	II	<5	19344236, 21239989	Exon 39	No
COL1A1_1009	c.2731G>A	p.Gly911Ser	SNV	Missense	Likely Pathogenic	III	<5	19344236, 24668929	Exon 39	No
COL1A1_1010	c.2739del	p.Gly914Alafs*194	Deletion	Frameshift	Pathogenic		<5	36339400	Exon 39	No
COL1A1_1011	c.2739delinsCA	p.Gly914Argfs*8	Delins	Frameshift	Pathogenic		<5	36339400	Exon 39	No
COL1A1_1012	c.2741del	p.Gly914Alafs*194	Deletion	Frameshift	Pathogenic		<5	36339400	Exon 39	No
COL1A1_1013	c.2750del	p.Gly917Aspfs*191	Deletion	Frameshift	Pathogenic	III	<5	31429852	Exon 39	No
COL1A1_1014	c.2752C>T	p.Arg918Cys	SNV	Missense	Likely Pathogenic		<5	34272483, 35587586	Exon 39	Yes
COL1A1_1015	c.2753G>A	p.Arg918His	SNV	Missense	Likely Pathogenic		<5		Exon 39	Yes
COL1A1_1016	c.2769del	p.Pro925Leufs*183	Deletion	Frameshift	Pathogenic		<5	36896471	Exon 39	No
COL1A1_1017	c.2774del	p.Pro925Leufs*183	Deletion	Frameshift	Pathogenic		<5	36896471	Exon 39	No
COL1A1_1018	c.2775del	p.Gly926Valfs*182	Deletion	Frameshift	Pathogenic	I, IV	<5	26627451, 27748872, 30715774, Show More >>	Exon 39	Yes
COL1A1_1019	c.2776G>T	p.Gly926Cys	SNV	Missense	Pathogenic		<5	1613761, 1737847, 19344236, Show More >>	Exon 39	Yes
COL1A1_1020	c.2782_2789del	p.Pro928Cysfs*10	Deletion	Frameshift	Pathogenic		<5	28512736, 36951356	Exon 39	No
COL1A1_1021	c.2783_2788delinsTGGCG	p.Pro928Leufs*180	Delins	Frameshift	Pathogenic		<5	28512736, 36951356	Exon 39	No
COL1A1_1022	c.2783del	p.Pro928Leufs*180	Deletion	Frameshift	Pathogenic		<5	28512736, 36951356	Exon 39	No
COL1A1_1023	c.2784del	p.Gly929Alafs*179	Deletion	Frameshift	Pathogenic	I	<5	11317364, 30715774	Exon 39	Yes
COL1A1_1024	c.2792C>A	p.Ala931Asp	SNV	Missense	Uncertain Significance		<5	35252483	Exon 39	No
COL1A1_1025	c.2813G>A	p.Gly938Asp	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 39	No
COL1A1_1026	c.2821G>A	p.Gly941Ser	SNV	Missense	Likely Pathogenic		<5	19344236, 29990383	Exon 39	Yes
COL1A1_1027	c.2822del	p.Gly941Valfs*167	Deletion	Frameshift	Pathogenic	IV	<5	31447884	Exon 39	No
COL1A1_1028	c.2829+2dup	Intronic	Duplication	Splice donor	Pathogenic	III	<5	38828893	Intron 39	Yes
COL1A1_1029	c.2829+5G>A	Intronic	SNV	Splice region	Uncertain Significance	I	<5	37293821	Intron 39	No
COL1A1_1030	c.2829+1G>T	Intronic	SNV	Splice donor	Pathogenic	I	<5	30715774	Intron 39	No
COL1A1_1031	c.2829+1G>A	Intronic	SNV	Splice donor	Pathogenic	I	<5	31363794, 35822426	Intron 39	Yes
COL1A1_1032	c.2829+4del	Intronic	Deletion	Splice region	Uncertain Significance	I	<5	30614853	Intron 39	No
COL1A1_1033	c.2829+3A>C	Intronic	SNV	Splice region	Uncertain Significance	I	<5	15241796	Intron 39	Yes
COL1A1_1034	c.2830-2A>C	Intronic	SNV	Splice acceptor	Pathogenic	II	<5	38102329	Intron 39	Yes
COL1A1_1035	c.2830-3A>G	Intronic	SNV	Splice region	Pathogenic	I	<5	25963598, 35073670	Intron 39	Yes
COL1A1_1036	c.2830-1G>A	Intronic	SNV	Splice acceptor	Pathogenic		<5	29946973	Intron 39	Yes
COL1A1_1037	c.2830G>T	p.Gly944Cys	SNV	Missense	Likely Pathogenic		<5	19344236, 29990383	Exon 40	No
COL1A1_1038	c.2831G>T	p.Gly944Val	SNV	Missense	Likely Pathogenic		<5	19344236, 35577939	Exon 40	No
COL1A1_1039	c.2838T>G	p.Pro946=	SNV	Silent	Uncertain Significance		<5	27090748	Exon 40	Yes
COL1A1_1040	c.2839G>T	p.Gly947Cys	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 40	No
COL1A1_1041	c.2850dup	p.Pro951Alafs*31	Duplication	Frameshift	Pathogenic		<5	29946973	Exon 40	No
COL1A1_1042	c.2867G>C	p.Gly956Ala	SNV	Missense	Likely Pathogenic		<5	19344236, 27748872, 39717845	Exon 40	Yes
COL1A1_1043	c.2867del	p.Gly956Aspfs*152	Deletion	Frameshift	Pathogenic	I	<5	32667677	Exon 40	No
COL1A1_1044	c.2869C>T	p.Gln957*	SNV	Nonsense	Pathogenic	I	<5	15024745, 16786509, 35052464	Exon 40	No
COL1A1_1045	c.2872C>T	p.Arg958Cys	SNV	Missense	Uncertain Significance		<5	29990383, 34272483, 35306228, Show More >>	Exon 40	Yes
COL1A1_1046	c.2873G>T	p.Arg958Leu	SNV	Missense	Uncertain Significance		<5	29990383	Exon 40	No
COL1A1_1047	c.2877del	p.Val960Trpfs*148	Deletion	Frameshift	Pathogenic	I	<5	29635034	Exon 40	Yes
COL1A1_1048	c.?	p.Gly962Valfs*74		Frameshift	Pathogenic		<5	31794058	Exon 40	Unknown
COL1A1_1049	c.2885G>A	p.Gly962Asp	SNV	Missense	Pathogenic		<5	19344236, 35855989, 39268228	Exon 40	No
COL1A1_1050	c.2890_2893del	p.Pro964Valfs*143	Deletion	Frameshift	Pathogenic	I	<5	37929041	Exon 40	No
COL1A1_1051	c.2893G>A	p.Gly965Ser	SNV	Missense	Likely Pathogenic	II	<5	19344236, 37401248	Exon 40	No
COL1A1_1052	c.2896C>T	p.Gln966*	SNV	Nonsense	Pathogenic	I	<5	37715362	Exon 40	Yes
COL1A1_1053	c.2908_2911del	p.Arg970Alafs*137	Deletion	Frameshift	Pathogenic	III	<5	30715774	Exon 40	No
COL1A1_1054	c.2910_2911del	p.Gly971Leufs*10	Deletion	Frameshift	Pathogenic		<5	33939306	Exon 40	No
COL1A1_1055	c.2910_2911insAG	p.Gly971Argfs*138	Insertion	Frameshift	Pathogenic		<5	33939306	Exon 40	No
COL1A1_1056	c.2920G>T	p.Gly974Cys	SNV	Missense	Likely Pathogenic		<5	19344236, 32401097	Exon 40	No
COL1A1_1057	c.2921G>C	p.Gly974Ala	SNV	Missense	Pathogenic	III	<5	19344236, 19358256, 30886339	Exon 40	No
COL1A1_1058	c.2930G>A	p.Gly977Asp	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 40	No
COL1A1_1059	c.2932C>T	p.Pro978Ser	SNV	Missense	Uncertain Significance		<5	16786509, 29543232, 31584903	Exon 40	Yes
COL1A1_1060	c.2938-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	36951356	Intron 40	Yes
COL1A1_1061	c.2939G>T	p.Gly980Val	SNV	Missense	Pathogenic	II	<5	1511982, 19344236	Exon 41	Yes
COL1A1_1062	c.2939G>A	p.Gly980Asp	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 41	No
COL1A1_1063	c.2956G>T	p.Gly986Cys	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 41	No
COL1A1_1064	c.2956G>A	p.Gly986Ser	SNV	Missense	Likely Pathogenic		<5	19344236, 28872564	Exon 41	Yes
COL1A1_1065	c.2980C>T	p.Arg994Cys	SNV	Missense	Uncertain Significance		<5	27011056, 34219226	Exon 41	Yes
COL1A1_1066	c.2984G>C	p.Gly995Ala	SNV	Missense	Pathogenic	III	<5	19344236, 34306033	Exon 41	Yes
COL1A1_1067	c.2985del	p.Pro997Leufs*111	Deletion	Frameshift	Pathogenic		<5	30886339	Exon 41	Yes
COL1A1_1068	c.2990del	p.Pro997Leufs*111	Deletion	Frameshift	Pathogenic		<5	30886339	Exon 41	No
COL1A1_1069	c.2991del	p.Gly998Valfs*110	Deletion	Frameshift	Pathogenic	I	<5	21667357, 22753364, 36951356	Exon 41	Yes
COL1A1_1070	c.2992G>T	p.Gly998Cys	SNV	Missense	Likely Pathogenic		<5	19344236, 29162237	Exon 41	No
COL1A1_1071	c.2993G>C	p.Gly998Ala	SNV	Missense	Pathogenic	III	<5	19344236, 34306033	Exon 41	Yes
COL1A1_1072	c.?	p.Met1000Ile		Missense	Likely Benign		<5		Exon 41	Unknown
COL1A1_1073	c.3001G>A	p.Gly1001Ser	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 38226081	Exon 41	Yes
COL1A1_1074	c.3001G>T	p.Gly1001Cys	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236, 38226081	Exon 41	No
COL1A1_1075	c.3002del	p.Gly1001Alafs*107	Deletion	Frameshift	Pathogenic		<5	36709916	Exon 41	No
COL1A1_1076	c.3002_3003del	p.Gly1001Alafs*10	Deletion	Frameshift	Pathogenic		<5	36709916	Exon 41	No
COL1A1_1077	c.3004C>T	p.Pro1002Ser	SNV	Missense	Uncertain Significance	IV	<5	35044492	Exon 41	No
COL1A1_1078	c.3008del	p.Pro1003Leufs*105	Deletion	Frameshift	Pathogenic	I, IV	<5	16786509, 30715774, 35123515, Show More >>	Exon 41	No
COL1A1_1079	c.3019G>T	p.Gly1007*	SNV	Nonsense	Pathogenic	I	<5	36709916	Exon 41	No
COL1A1_1080	c.3026del	p.Pro1009Leufs*99	Deletion	Frameshift	Pathogenic	I	<5	37715362, 39717845	Exon 41	No
COL1A1_1081	c.3027del	p.Gly1010Valfs*98	Deletion	Frameshift	Pathogenic		<5	19358256	Exon 41	No
COL1A1_1082	c.3028G>A	p.Gly1010Ser	SNV	Missense	Pathogenic	III, IV	<5	11286811, 12538651, 1634225, Show More >>	Exon 41	Yes
COL1A1_1083	c.3036_3045+2del	Intronic	Deletion	Splice donor	Likely Pathogenic	IV	<5	31737030	Exon 41	No
COL1A1_1084	c.3038G>A	p.Gly1013Glu	SNV	Missense	Likely Pathogenic	II	<5	19344236, 30886339	Exon 41	No
COL1A1_1085	c.3040C>T	p.Arg1014Cys	SNV	Missense	Pathogenic		<5	15864348, 17206620, 17211858, Show More >>	Exon 41	Yes
COL1A1_1086	c.3043G>A	p.Glu1015Lys	SNV	Missense	Uncertain Significance	II	<5	20946018	Exon 41	No
COL1A1_1087	c.3045+1G>A	Intronic	SNV	Splice donor	Pathogenic	I, IV	<5	28810924, 32166892	Intron 41	Yes
COL1A1_1088	c.3045+2T>A	Intronic	SNV	Splice donor	Pathogenic		<5	33939306	Intron 41	No
COL1A1_1089	c.3046-5_3046-4dup	Intronic	Duplication	Splice region	Uncertain Significance		<5	21884818	Intron 41	No
COL1A1_1090	c.3046-1G>A	Intronic	SNV	Splice acceptor	Pathogenic		<5	36622688	Intron 41	No
COL1A1_1091	c.3046-6_3046-5del	Intronic	Deletion	Splice region	Uncertain Significance		<5	31204718, 33694043	Intron 41	No
COL1A1_1092	c.3046-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	15241796	Intron 41	No
COL1A1_1093	c.3054del	p.Gly1019Valfs*89	Deletion	Frameshift	Pathogenic	IV	<5	35044492	Exon 42	No
COL1A1_1094	c.3055G>T	p.Gly1019Cys	SNV	Missense	Likely Pathogenic	III	<5	19344236, 32770541	Exon 42	No
COL1A1_1095	c.3056G>C	p.Gly1019Ala	SNV	Missense	Likely Pathogenic		<5	19344236, 24273577	Exon 42	No
COL1A1_1096	c.3063_3064del	p.Gly1022Phefs*13	Deletion	Frameshift	Pathogenic		<5	15241796, 30614853	Exon 42	No
COL1A1_1097	c.3064G>T	p.Gly1022Cys	SNV	Missense	Likely Pathogenic	II	<5	19344236, 35535755	Exon 42	No
COL1A1_1098	c.3064G>A	p.Gly1022Ser	SNV	Missense	Pathogenic	II, III	<5	1634225, 18670065, 19344236, Show More >>	Exon 42	No
COL1A1_1099	c.3065G>T	p.Gly1022Val	SNV	Missense	Pathogenic	II	<5	18996919, 19344236, 21239989, Show More >>	Exon 42	No
COL1A1_1100	c.3065G>C	p.Gly1022Ala	SNV	Missense	Pathogenic	III, IV	<5	18798308, 19344236, 22589248, Show More >>	Exon 42	No
COL1A1_1101	c.3065del	p.Gly1022Valfs*86	Deletion	Frameshift	Pathogenic		<5	15241796, 30614853	Exon 42	No
COL1A1_1102	c.3072del	p.Gly1025Aspfs*83	Deletion	Frameshift	Pathogenic	I	<5	36709916	Exon 42	No
COL1A1_1103	c.3073G>A	p.Gly1025Arg	SNV	Missense	Pathogenic	II	<5	1613761, 1718984, 19344236, Show More >>	Exon 42	No
COL1A1_1104	c.3076C>T	p.Arg1026*	SNV	Nonsense	Pathogenic	I, IV	<5	11113887, 15024745, 15241796, Show More >>	Exon 42	No
COL1A1_1105	c.3079del	p.Asp1027Thrfs*81	Deletion	Frameshift	Pathogenic	I	<5	24501682, 9443882	Exon 42	No
COL1A1_1106	c.3082G>A	p.Gly1028Ser	SNV	Missense	Pathogenic	I, IV	<5	17078022, 19344236, 36951356	Exon 42	No
COL1A1_1107	c.3088_3090del	p.Pro1030del	Deletion	Deletion	Likely Pathogenic	III	<5	19344236, 36709916	Exon 42	No
COL1A1_1108	c.3100-2A>G	Intronic	SNV	Splice acceptor	Likely Pathogenic	II	<5	25963598	Intron 42	Yes
COL1A1_1109	c.3100-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	25963598	Intron 42	Yes
COL1A1_1110	c.3100-2A>C	Intronic	SNV	Splice acceptor	Likely Pathogenic	II	<5	25963598	Intron 42	No
COL1A1_1111	c.3101G>A	p.Gly1034Asp	SNV	Missense	Likely Pathogenic		<5	19344236, 31039433	Exon 43	No
COL1A1_1112	c.3106C>T	p.Arg1036Cys	SNV	Missense	Uncertain Significance		<5	18028452, 24443025, 26002060, Show More >>	Exon 43	Yes
COL1A1_1113	c.3109G>T	p.Gly1037Cys	SNV	Missense	Likely Pathogenic		<5	11001814, 1613761, 19344236	Exon 43	No
COL1A1_1114	c.3112del	p.Glu1038Argfs*70	Deletion	Frameshift	Pathogenic	I	<5	31363794	Exon 43	No
COL1A1_1115	c.3114del	p.Thr1039Profs*69	Deletion	Frameshift	Pathogenic		<5	21884818	Exon 43	No
COL1A1_1116	c.3114dup	p.Thr1039Aspfs*27	Duplication	Frameshift	Pathogenic		<5	21884818	Exon 43	Yes
COL1A1_1117	c.3118G>C	p.Gly1040Arg	SNV	Missense	Likely Pathogenic	II	<5	19344236, 26264579	Exon 43	Yes
COL1A1_1118	c.3118G>A	p.Gly1040Ser	SNV	Missense	Pathogenic	II, III	<5	18670065, 18798308, 19344236, Show More >>	Exon 43	Yes
COL1A1_1119	c.3119G>C	p.Gly1040Ala	SNV	Missense	Likely Pathogenic	III	<5	19344236, 36951356	Exon 43	Yes
COL1A1_1120	c.3123del	p.Ala1042Leufs*66	Deletion	Frameshift	Pathogenic		<5	26627451	Exon 43	No
COL1A1_1121	c.3124_3160del	p.Ala1042Leufs*54	Deletion	Frameshift	Pathogenic		<5	26627451	Exon 43	No
COL1A1_1122	c.3124_3134del	p.Ala1042Trpfs*20	Deletion	Frameshift	Pathogenic		<5	26627451	Exon 43	No
COL1A1_1123	c.3129_3137del	p.Pro1044_Gly1046del	Deletion	Deletion	Likely Pathogenic	II	<5	11668615, 19344236, 22795119	Exon 43	No
COL1A1_1124	c.3132_3140del	p.Ala1053_Gly1055del	Deletion	Deletion	Pathogenic		<5	11668615, 17875077, 19344236, Show More >>	Exon 43	No
COL1A1_1125	c.3133_3134dup	p.Gly1046Leufs*63	Duplication	Frameshift	Pathogenic		<5	35647203	Exon 43	No
COL1A1_1126	c.3135del	p.Gly1046Valfs*62	Deletion	Frameshift	Pathogenic		<5	35647203	Exon 43	Yes
COL1A1_1127	c.3136G>A	p.Gly1046Ser	SNV	Missense	Pathogenic	III, IV	<5	19344236, 19491628	Exon 43	No
COL1A1_1128	c.3136G>T	p.Gly1046Cys	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 19491628, 25086671, Show More >>	Exon 43	Yes
COL1A1_1129	c.3145G>A	p.Gly1049Ser	SNV	Missense	Likely Pathogenic	III	<5	19344236, 9101304	Exon 43	Yes
COL1A1_1130	c.3150_3158del	p.Ala1053_Gly1055del	Deletion	Deletion	Pathogenic		<5	11668615, 17875077, 19344236, Show More >>	Exon 43	No
COL1A1_1131	c.3150_3158dup	p.Ala1053_Gly1055dup	Duplication	Insertion	Pathogenic	II	<5	11668615, 12538651, 18996919, Show More >>	Exon 43	No
COL1A1_1132	c.3154G>A	p.Gly1052Ser	SNV	Missense	Likely Pathogenic	III	<5	19344236, 36709916	Exon 43	No
COL1A1_1133	c.3154G>T	p.Gly1052Cys	SNV	Missense	Likely Pathogenic		<5	19344236, 33939306	Exon 43	No
COL1A1_1134	c.3155G>C	p.Gly1052Ala	SNV	Missense	Likely Pathogenic	III	<5	19344236, 30614853	Exon 43	Yes
COL1A1_1135	c.3156_3164del	p.Ala1053_Gly1055del	Deletion	Deletion	Pathogenic		<5	11668615, 17875077, 19344236, Show More >>	Exon 43	No
COL1A1_1136	c.3158_3159insTCCTGGTCC	p.Pro1054_Pro1056dup	Insertion	Insertion	Likely Pathogenic	II	<5	11317364, 19344236	Exon 43	No
COL1A1_1137	c.3162del	p.Gly1055Alafs*53	Deletion	Frameshift	Pathogenic	I	<5	15241796, 25361913, 31429852, Show More >>	Exon 43	Yes
COL1A1_1138	c.3163G>C	p.Gly1055Arg	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 43	No
COL1A1_1139	c.3164dup	p.Val1057Argfs*9	Duplication	Frameshift	Pathogenic		<5	22753364, 33942288, 36951356	Exon 43	No
COL1A1_1140	c.3164G>A	p.Gly1055Asp	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 43	Yes
COL1A1_1141	c.3168dup	p.Val1057Argfs*9	Duplication	Frameshift	Pathogenic		<5	22753364, 33942288, 36951356	Exon 43	No
COL1A1_1142	c.3168del	p.Val1057Leufs*51	Deletion	Frameshift	Pathogenic		<5	22753364, 33942288, 36951356	Exon 43	No
COL1A1_1143	c.3169G>A	p.Val1057Ile	SNV	Missense	Uncertain Significance		<5		Exon 43	Yes
COL1A1_1144	c.3172G>A	p.Gly1058Ser	SNV	Missense	Pathogenic	IV	<5	16705691, 19344236, 29499418, Show More >>	Exon 43	Yes
COL1A1_1145	c.3178del	p.Ala1060Leufs*48	Deletion	Frameshift	Likely Pathogenic		<5	29499418	Exon 43	No
COL1A1_1146	c.3181G>A	p.Gly1061Ser	SNV	Missense	Likely Pathogenic	IV	<5	11286811, 19344236, 37810882, Show More >>	Exon 43	No
COL1A1_1147	c.3182G>A	p.Gly1061Asp	SNV	Missense	Pathogenic	II	<5	1460046, 19344236, 2309707, Show More >>	Exon 43	Yes
COL1A1_1148	c.3182G>T	p.Gly1061Val	SNV	Missense	Pathogenic	III	<5	19344236, 37810882	Exon 43	Yes
COL1A1_1149	c.3195T>G	p.Asp1065Glu	SNV	Missense	Uncertain Significance		<5	29946973	Exon 43	No
COL1A1_1150	c.3196C>T	p.Arg1066Cys	SNV	Missense	Likely Pathogenic	I	<5	17206620, 17211858, 18028452, Show More >>	Exon 43	Yes
COL1A1_1151	c.3197G>A	p.Arg1066His	SNV	Missense	Likely Pathogenic		<5	37715362	Exon 43	Yes
COL1A1_1152	c.3201_3207del	p.Glu1068Valfs*38	Deletion	Frameshift	Pathogenic		<5	16879195	Exon 43	No
COL1A1_1153	c.3201del	p.Glu1068Argfs*40	Deletion	Frameshift	Pathogenic		<5	16879195	Exon 43	No
COL1A1_1154	c.3207+1G>A	Intronic	SNV	Splice donor	Pathogenic	I	<5	22565191, 23800666, 33939306, Show More >>	Intron 43	Yes
COL1A1_1155	c.3207+5G>T	Intronic	SNV	Splice region	Uncertain Significance	I	<5	15241796	Intron 43	No
COL1A1_1156	c.3207+1_3207+2del	Intronic	Deletion	Splice donor	Pathogenic		<5	33939306	Intron 43	No
COL1A1_1157	c.3207+2T>C	Intronic	SNV	Splice donor	Pathogenic	I	<5	25963598	Intron 43	Yes
COL1A1_1158	c.3208-1G>C	Intronic	SNV	Splice acceptor	Pathogenic	IV	<5	25963598, 35052464	Intron 43	No
COL1A1_1159	c.3208-6C>T	Intronic	SNV	Splice region	Uncertain Significance	III	<5	32234057, 39717845	Intron 43	Yes
COL1A1_1160	c.3208-32C>A	Intronic	SNV	Intronic	Benign		<5		Intron 43	Yes
COL1A1_1161	c.3208G>T	p.Gly1070Cys	SNV	Missense	Likely Pathogenic	III	<5	19344236, 31363794	Exon 44	No
COL1A1_1162	c.3208-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	28810924	Intron 43	No
COL1A1_1163	c.3208-2A>C	Intronic	SNV	Splice acceptor	Pathogenic	III	<5	15241796	Intron 43	Yes
COL1A1_1164	c.3209_3218del	p.Gly1070Valfs*35	Deletion	Frameshift	Pathogenic	I	<5	30614853	Exon 44	No
COL1A1_1165	c.3217G>A	p.Gly1073Ser	SNV	Missense	Likely Pathogenic	III	<5	19344236, 28810924	Exon 44	No
COL1A1_1166	c.3222del	p.Thr1075Profs*33	Deletion	Frameshift	Pathogenic	III	<5	33070251	Exon 44	No
COL1A1_1167	c.3223G>A	p.Ala1075Thr	SNV	Missense	Benign		<5	10976985, 15164160, 18272325, Show More >>	Exon 44	Yes
COL1A1_1168	c.3226G>A	p.Gly1076Ser	SNV	Missense	Pathogenic	III, IV	<5	12538651, 18798308, 19344236, Show More >>	Exon 44	Yes
COL1A1_1169	c.3226G>T	p.Gly1076Cys	SNV	Missense	Likely Pathogenic		<5	19344236, 21594610	Exon 44	No
COL1A1_1170	c.3226G>C	p.Gly1076Arg	SNV	Missense	Likely Pathogenic	III	<5	19344236, 34107839	Exon 44	No
COL1A1_1171	c.3230_3231del	p.Pro1077Argfs*18	Deletion	Frameshift	Pathogenic		<5	32502767	Exon 44	No
COL1A1_1172	c.3235G>A	p.Gly1079Ser	SNV	Missense	Pathogenic	I, III, IV	<5	15241796, 1634225, 18670065, Show More >>	Exon 44	Yes
COL1A1_1173	c.3235G>C	p.Gly1079Arg	SNV	Missense	Pathogenic	I, II	<5	19344236, 30886339	Exon 44	No
COL1A1_1174	c.3239del	p.Pro1080Leufs*28	Deletion	Frameshift	Pathogenic	III	<5	31429852	Exon 44	No
COL1A1_1175	c.3241del	p.Val1081Leufs*27	Deletion	Frameshift	Pathogenic		<5	19358256	Exon 44	No
COL1A1_1176	c.3243T>C	p.Val1081=	SNV	Silent	Benign		<5		Exon 44	Yes
COL1A1_1177	c.3244G>T	p.Gly1082Cys	SNV	Missense	Pathogenic	II	<5	1613761, 1634225, 1737847, Show More >>	Exon 44	Yes
COL1A1_1178	c.3245G>C	p.Gly1082Ala	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 44	No
COL1A1_1179	c.3247G>T	p.Ala1083Ser	SNV	Missense	Uncertain Significance		<5	32895354	Exon 44	No
COL1A1_1180	c.3247G>A	p.Ala1083Thr	SNV	Missense	Uncertain Significance		<5	27484908, 28436160, 30867749, Show More >>	Exon 44	Yes
COL1A1_1181	c.3253G>A	p.Gly1085Ser	SNV	Missense	Likely Pathogenic		<5	19344236, 21594610	Exon 44	No
COL1A1_1182	c.3256_3259delinsGC	p.Pro1086Alafs*9	Delins	Frameshift	Pathogenic	IV	<5	30715774	Exon 44	No
COL1A1_1183	c.3258del	p.Ala1087Profs*21	Deletion	Frameshift	Pathogenic	I	<5	24501682, 30614853	Exon 44	No
COL1A1_1184	c.3261+2T>C	Intronic	SNV	Splice donor	Likely Pathogenic	II	<5	25963598	Intron 44	No
COL1A1_1185	c.3261+1G>A	Intronic	SNV	Splice donor	Pathogenic	II	<5	18996919	Intron 44	Yes
COL1A1_1186	c.3261+31T>C	Intronic	SNV	Intronic	Benign		<5		Intron 44	Yes
COL1A1_1187	c.3262-1G>C	Intronic	SNV	Splice acceptor	Pathogenic		<5	33939306	Intron 44	No
COL1A1_1188	c.3262-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	IV	<5	28725987	Intron 44	Yes
COL1A1_1189	c.3262G>T	p.Gly1088*	SNV	Nonsense	Pathogenic	I, IV	<5	28810924	Exon 45	No
COL1A1_1190	c.3262-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	31363794	Intron 44	Yes
COL1A1_1191	c.3263G>A	p.Gly1088Glu	SNV	Missense	Pathogenic	I	<5	19344236, 24682174	Exon 45	No
COL1A1_1192	c.3263G>C	p.Gly1088Ala	SNV	Missense	Pathogenic	II	<5	11113887, 19344236, 24682174, Show More >>	Exon 45	No
COL1A1_1193	c.3268del	p.Gln1090Lysfs*18	Deletion	Frameshift	Pathogenic	I	<5	30715774	Exon 45	No
COL1A1_1194	c.3268C>T	p.Gln1090*	SNV	Nonsense	Pathogenic	I, IV	<5	33475155, 36951356	Exon 45	Yes
COL1A1_1195	c.3271G>A	p.Gly1091Ser	SNV	Missense	Likely Pathogenic		<5	1634225, 18845533, 19344236	Exon 45	Yes
COL1A1_1196	c.3277dup	p.Arg1093Profs*3	Duplication	Frameshift	Pathogenic		<5	30715774	Exon 45	No
COL1A1_1197	c.3277del	p.Arg1093Valfs*15	Deletion	Frameshift	Pathogenic		<5	30715774	Exon 45	No
COL1A1_1198	c.3277C>T	p.Arg1093Cys	SNV	Missense	Uncertain Significance		<5	17206620, 17211858, 18028452, Show More >>	Exon 45	Yes
COL1A1_1199	c.3278G>A	p.Arg1093His	SNV	Missense	Uncertain Significance	III	<5	27549894	Exon 45	Yes
COL1A1_1200	c.3280G>A	p.Gly1094Ser	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 45	No
COL1A1_1201	c.3281G>A	p.Gly1094Asp	SNV	Missense	Likely Pathogenic		<5	19344236, 31680973	Exon 45	No
COL1A1_1202	c.3285dup	p.Lys1096Glnfs*3	Duplication	Frameshift	Pathogenic	I	<5	7942841	Exon 45	Yes
COL1A1_1203	c.3289G>C	p.Gly1097Arg	SNV	Missense	Likely Pathogenic		<5	19344236, 31680973	Exon 45	Yes
COL1A1_1204	c.3289G>A	p.Gly1097Ser	SNV	Missense	Likely Pathogenic		<5	19344236, 31680973	Exon 45	No
COL1A1_1205	c.3290G>T	p.Gly1097Val	SNV	Missense	Pathogenic		<5	19344236, 28812463, 39268228	Exon 45	No
COL1A1_1206	c.3290G>A	p.Gly1097Asp	SNV	Missense	Likely Pathogenic		<5	19344236, 31680973	Exon 45	No
COL1A1_1207	c.3291_3294dup	p.Thr1099*	Duplication	Frameshift	Pathogenic	III	<5	35044492	Exon 45	No
COL1A1_1208	c.3299G>A	p.Gly1100Asp	SNV	Missense	Likely Pathogenic	II	<5	18996919, 19344236	Exon 45	No
COL1A1_1209	c.3301G>A	p.Glu1101Lys	SNV	Missense	Uncertain Significance		<5	27011056	Exon 45	Yes
COL1A1_1210	c.3304C>T	p.Gln1102*	SNV	Nonsense	Pathogenic	I	<5	30715774	Exon 45	Yes
COL1A1_1211	c.3307G>C	p.Gly1103Arg	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 45	No
COL1A1_1212	c.3307G>A	p.Gly1103Ser	SNV	Missense	Likely Pathogenic		<5	19344236, 31898422	Exon 45	No
COL1A1_1213	c.3307_3314del	p.Gly1103Argfs*23	Deletion	Frameshift	Pathogenic	IV	<5	16705691	Exon 45	No
COL1A1_1214	c.3310G>A	p.Asp1104Asn	SNV	Missense	Uncertain Significance		<5	38737102	Exon 45	Yes
COL1A1_1215	c.3313del	p.Arg1105Glufs*3	Deletion	Frameshift	Pathogenic	I	<5	16272059, 29506241, 9067755	Exon 45	No
COL1A1_1216	c.3317G>C	p.Gly1106Ala	SNV	Missense	Pathogenic	II	<5	19344236, 2777764, 8456808	Exon 45	No
COL1A1_1217	c.3318_3325del	p.Ile1107Serfs*19	Deletion	Frameshift	Pathogenic		<5	33939306	Exon 45	No
COL1A1_1218	c.3325G>A	p.Gly1109Ser	SNV	Missense	Likely Pathogenic	II	<5	19344236, 21239989	Exon 45	No
COL1A1_1219	c.3328del	p.His1110Thrfs*129	Deletion	Frameshift	Pathogenic		<5	27748872	Exon 45	No
COL1A1_1220	c.3349C>T	p.Gln1117*	SNV	Nonsense	Pathogenic	I	<5	21667357, 35044492	Exon 45	No
COL1A1_1221	c.3360del	p.Gly1121Alafs*118	Deletion	Frameshift	Pathogenic	IV	<5	33939306, 36951356	Exon 45	Yes
COL1A1_1222	c.3369+1G>C	Intronic	SNV	Splice donor	Pathogenic	I	<5	27519266	Intron 45	Yes
COL1A1_1223	c.3369+1G>T	Intronic	SNV	Splice donor	Pathogenic	I	<5	25963598	Intron 45	No
COL1A1_1224	c.3370G>T	p.Gly1124Cys	SNV	Missense	Likely Pathogenic		<5	19344236, 24273577	Exon 46	No
COL1A1_1225	c.3380G>A	p.Gly1127Asp	SNV	Missense	Pathogenic	I	<5	19344236, 28668235	Exon 46	No
COL1A1_1226	c.3389G>A	p.Gly1130Asp	SNV	Missense	Pathogenic		<5	19344236, 33777089	Exon 46	Yes
COL1A1_1227	c.3398G>C	p.Gly1133Ala	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 20087402	Exon 46	No
COL1A1_1228	c.3399del	p.Ala1134Profs*105	Deletion	Frameshift	Pathogenic	I	<5	32144589, 35984462, 35984463	Exon 46	Yes
COL1A1_1229	c.3402del	p.Ser1135Leufs*104	Deletion	Frameshift	Pathogenic	I	<5	7942841	Exon 46	No
COL1A1_1230	c.3403T>G	p.Ser1135Ala	SNV	Missense	Uncertain Significance	I	<5	30715774	Exon 46	No
COL1A1_1231	c.3407G>C	p.Gly1136Ala	SNV	Missense	Pathogenic		<5	19344236, 31994750, 36566310	Exon 46	Yes
COL1A1_1232	c.3421C>T	p.Arg1141*	SNV	Nonsense	Pathogenic	I	<5	15095409, 16705691, 16879195, Show More >>	Exon 46	Yes
COL1A1_1233	c.3422G>A	p.Arg1141Gln	SNV	Missense	Uncertain Significance		<5	18272325, 24273577	Exon 46	Yes
COL1A1_1234	c.3423+2T>A	Intronic	SNV	Splice donor	Pathogenic	II	<5	18996919	Intron 46	No
COL1A1_1235	c.3423+1G>A	Intronic	SNV	Splice donor	Likely Pathogenic	II	<5	10417276, 18996919, 25963598	Intron 46	No
COL1A1_1236	c.3423+1G>T	Intronic	SNV	Splice donor	Likely Pathogenic	II	<5	25963598	Intron 46	No
COL1A1_1237	c.3424-1G>A	Intronic	SNV	Splice acceptor	Pathogenic		<5	36987741	Intron 46	No
COL1A1_1238	c.3424-1G>C	Intronic	SNV	Splice acceptor	Pathogenic	II	<5	18996919	Intron 46	No
COL1A1_1239	c.3424-3C>G	Intronic	SNV	Splice region	Likely Pathogenic	III, IV	<5	25963598, 9203215	Intron 46	No
COL1A1_1240	c.3424-6C>G	Intronic	SNV	Splice region	Uncertain Significance	I	<5	28498836, 39717845	Intron 46	Yes
COL1A1_1241	c.3425G>T	p.Gly1142Val	SNV	Missense	Pathogenic		<5	19344236, 30692697	Exon 47	Yes
COL1A1_1242	c.3431dup	p.Gly1145Trpfs*29	Duplication	Frameshift	Pathogenic		<5	33070251	Exon 47	No
COL1A1_1243	c.3432del	p.Gly1145Alafs*94	Deletion	Frameshift	Pathogenic		<5	33070251	Exon 47	Yes
COL1A1_1244	c.3433G>T	p.Gly1145Cys	SNV	Missense	Pathogenic		<5	19344236, 24273577, 25742658, Show More >>	Exon 47	No
COL1A1_1245	c.3433G>C	p.Gly1145Arg	SNV	Missense	Likely Pathogenic		<5	1718984, 19344236	Exon 47	No
COL1A1_1246	c.3445G>T	p.Ala1149Ser	SNV	Missense	Uncertain Significance		<5		Exon 47	Yes
COL1A1_1247	c.3450dup	p.Gly1151Trpfs*23	Duplication	Frameshift	Pathogenic		<5	29499418	Exon 47	No
COL1A1_1248	c.3451G>A	p.Gly1151Ser	SNV	Missense	Pathogenic	III, IV	<5	19344236, 25086671, 9067755	Exon 47	Yes
COL1A1_1249	c.3452G>T	p.Gly1151Val	SNV	Missense	Likely Pathogenic	II	<5	19344236, 24273577, 2777764, Show More >>	Exon 47	Yes
COL1A1_1250	c.3452del	p.Gly1151Alafs*88	Deletion	Frameshift	Pathogenic		<5	29499418	Exon 47	No
COL1A1_1251	c.3459T>C	p.Asp1153=	SNV	Silent	Benign		<5		Exon 47	Yes
COL1A1_1252	c.3460G>C	p.Gly1154Arg	SNV	Missense	Pathogenic		<5	1613761, 19344236, 2777764, Show More >>	Exon 47	No
COL1A1_1253	c.3460G>A	p.Gly1154Arg	SNV	Missense	Pathogenic		<5	1613761, 19344236, 2777764, Show More >>	Exon 47	No
COL1A1_1254	c.3466_3472del	p.Asn1156Serfs*81	Deletion	Frameshift	Pathogenic		<5	33070251	Exon 47	No
COL1A1_1255	c.3466A>G	p.Asn1156Asp	SNV	Missense	Uncertain Significance		<5	27011056	Exon 47	No
COL1A1_1256	c.3467dup	p.Asn1156Lysfs*18	Duplication	Frameshift	Pathogenic		<5	33070251	Exon 47	No
COL1A1_1257	c.3469G>A	p.Gly1157Ser	SNV	Missense	Likely Pathogenic		<5	19344236, 31039433, 36360323	Exon 47	Yes
COL1A1_1258	c.3470G>T	p.Gly1157Val	SNV	Missense	Pathogenic		<5	19344236, 31994750, 37715362	Exon 47	No
COL1A1_1259	c.3470G>A	p.Gly1157Asp	SNV	Missense	Likely Pathogenic	IV	<5	19344236, 22913777, 30715774	Exon 47	Yes
COL1A1_1260	c.3477del	p.Gly1160Alafs*79	Deletion	Frameshift	Pathogenic		<5	19358256	Exon 47	No
COL1A1_1261	c.3480_3497del	p.Ile1162_Pro1167del	Deletion	Deletion	Likely Pathogenic	II	<5	17875077, 19344236	Exon 47	No
COL1A1_1262	c.3486dup	p.Gly1163Trpfs*11	Duplication	Frameshift	Pathogenic	I	<5	39664930	Exon 47	No
COL1A1_1263	c.3488G>A	p.Gly1163Glu	SNV	Missense	Pathogenic	II, III	<5	19344236, 38386321	Exon 47	No
COL1A1_1264	c.3489del	p.Pro1165Leufs*74	Deletion	Frameshift	Pathogenic		<5	31447884	Exon 47	No
COL1A1_1265	c.3494del	p.Pro1165Leufs*74	Deletion	Frameshift	Pathogenic		<5	31447884	Exon 47	No
COL1A1_1266	c.3494dup	p.Gly1166Trpfs*8	Duplication	Frameshift	Pathogenic		<5	19491628, 24501682	Exon 47	No
COL1A1_1267	c.3495del	p.Gly1166Valfs*73	Deletion	Frameshift	Pathogenic		<5	19491628, 24501682	Exon 47	Yes
COL1A1_1268	c.3496G>T	p.Gly1166Cys	SNV	Missense	Likely Pathogenic	II	<5	1613761, 1737847, 19344236, Show More >>	Exon 47	Yes
COL1A1_1269	c.3505G>A	p.Gly1169Ser	SNV	Missense	Pathogenic	III, IV	<5	19344236, 22753364, 23443412, Show More >>	Exon 47	Yes
COL1A1_1270	c.3515dup	p.Asp1173*	Duplication	Frameshift	Pathogenic		<5	29158550	Exon 47	No
COL1A1_1271	c.3515G>A	p.Gly1172Asp	SNV	Missense	Pathogenic	II	<5	10627137, 19344236, 29432813	Exon 47	No
COL1A1_1272	c.3521C>T	p.Ala1174Val	SNV	Missense	Likely Pathogenic	I, III	<5	21667357, 25674388, 29552444, Show More >>	Exon 47	No
COL1A1_1273	c.3523G>A	p.Gly1175Ser	SNV	Missense	Pathogenic	III	<5	12538651, 18798308, 19344236, Show More >>	Exon 47	No
COL1A1_1274	c.3529G>A	p.Val1177Ile	SNV	Missense	Uncertain Significance		<5	18272325, 24273577	Exon 47	Yes
COL1A1_1275	c.3531+5G>A	Intronic	SNV	Splice region	Likely Pathogenic	I, IV	<5	17078022, 30715774, 37352859	Intron 47	Yes
COL1A1_1276	c.3531+1G>T	Intronic	SNV	Splice donor	Pathogenic	I	<5	29150909, 30715774	Intron 47	Yes
COL1A1_1277	c.3531+2T>C	Intronic	SNV	Splice donor	Pathogenic	I	<5	25963598, 30715774	Intron 47	Yes
COL1A1_1278	c.3531+3A>T	Intronic	SNV	Splice region	Likely Pathogenic	I	<5	29635034, 37352859	Intron 47	Yes
COL1A1_1279	c.3532-3_3532-1del	Intronic	Deletion	Splice acceptor	Pathogenic	I	<5	16705691	Intron 47	No
COL1A1_1280	c.3532-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	IV	<5	24070816	Intron 47	No
COL1A1_1281	c.3533G>C	p.Gly1178Ala	SNV	Missense	Likely Pathogenic	III	<5	19344236, 36951356	Exon 48	No
COL1A1_1282	c.3533del	p.Gly1178Valfs*61	Deletion	Frameshift	Pathogenic		<5	29946973, 30715774	Exon 48	No
COL1A1_1283	c.3533G>T	p.Gly1178Val	SNV	Missense	Likely Pathogenic		<5	19344236, 24273577	Exon 48	No
COL1A1_1284	c.3533_3542del	p.Gly1178Alafs*58	Deletion	Frameshift	Pathogenic		<5	29946973, 30715774	Exon 48	No
COL1A1_1285	c.3535C>T	p.Pro1179Ser	SNV	Missense	Uncertain Significance		<5	35274497	Exon 48	Yes
COL1A1_1286	c.3536_3540del	p.Pro1179Argfs*39	Deletion	Frameshift	Pathogenic	I	<5	32667677	Exon 48	No
COL1A1_1287	c.3540dup	p.Gly1181Argfs*39	Duplication	Frameshift	Pathogenic		<5	28725987, 32667677, 33070251	Exon 48	No
COL1A1_1288	c.3540del	p.Gly1181Alafs*58	Deletion	Frameshift	Pathogenic		<5	28725987, 32667677, 33070251	Exon 48	No
COL1A1_1289	c.3541G>A	p.Gly1181Ser	SNV	Missense	Pathogenic	II	<5	1634225, 19344236, 2037280, Show More >>	Exon 48	Yes
COL1A1_1290	c.3541G>T	p.Gly1181Cys	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 48	No
COL1A1_1291	c.3548C>T	p.Pro1183Leu	SNV	Missense	Uncertain Significance	II	<5	32519829	Exon 48	No
COL1A1_1292	c.3551G>T	p.Gly1184Val	SNV	Missense	Likely Pathogenic	II	<5	19344236, 24273577, 2777764	Exon 48	Yes
COL1A1_1293	c.3556C>G	p.Pro1186Ala	SNV	Missense	Uncertain Significance	I	<5	27132807, 36140746	Exon 48	Yes
COL1A1_1294	c.3557C>T	p.Pro1186Leu	SNV	Missense	Uncertain Significance		<5	36140746, 39268228	Exon 48	No
COL1A1_1295	c.3559G>A	p.Gly1187Ser	SNV	Missense	Likely Pathogenic		<5	1634225, 19344236, 9067755, Show More >>	Exon 48	Yes
COL1A1_1296	c.3559G>C	p.Gly1187Arg	SNV	Missense	Likely Pathogenic	III	<5	19344236, 25289482	Exon 48	No
COL1A1_1297	c.3559G>T	p.Gly1187Cys	SNV	Missense	Pathogenic	I, IV	<5	19344236, 27748872, 30715774	Exon 48	Yes
COL1A1_1298	c.3560G>T	p.Gly1187Val	SNV	Missense	Likely Pathogenic		<5	19344236, 24273577, 9067755	Exon 48	No
COL1A1_1299	c.3560del	p.Gly1187Valfs*52	Deletion	Frameshift	Pathogenic	I	<5	15241796	Exon 48	No
COL1A1_1300	c.3564_3572dup	p.Gly1190_Pro1192dup	Duplication	Insertion	Likely Pathogenic	III, IV	<5	11668615, 19344236	Exon 48	No
COL1A1_1301	c.3567del	p.Gly1190Valfs*49	Deletion	Frameshift	Pathogenic	I	<5	24311407, 27510842, 29150909, Show More >>	Exon 48	Yes
COL1A1_1302	c.3568G>C	p.Gly1190Arg	SNV	Missense	Likely Pathogenic		<5	19344236	Exon 48	No
COL1A1_1303	c.3571delinsTTCGA	p.Pro1191Phefs*30	Delins	Frameshift	Pathogenic	I	<5	34107839	Exon 48	No
COL1A1_1304	c.3578_3654delinsTCATCAGCC	p.Ser1193Ilefs*5	Delins	Frameshift	Pathogenic	I	<5	35928384	Exon 48	No
COL1A1_1305	c.3580_3581del	p.Ala1194Trpfs*25	Deletion	Frameshift	Pathogenic	III	<5	16786509	Exon 48	No
COL1A1_1306	c.3580G>A	p.Ala1194Thr	SNV	Missense	Uncertain Significance		<5	24325359	Exon 48	Yes
COL1A1_1307	c.3583_3584del	p.Gly1195Phefs*24	Deletion	Frameshift	Pathogenic		<5	16786509, 34277895	Exon 48	No
COL1A1_1308	c.3583G>T	p.Gly1195Cys	SNV	Missense	Uncertain Significance	I	<5	1988452, 3170557	Exon 48	Yes
COL1A1_1309	c.3584del	p.Gly1195Valfs*44	Deletion	Frameshift	Pathogenic		<5	16786509, 34277895	Exon 48	No
COL1A1_1310	c.3589_3590del	p.Asp1197Leufs*22	Deletion	Frameshift	Pathogenic	I	<5	7942841	Exon 48	Yes
COL1A1_1311	c.3595A>G	p.Ser1199Gly	SNV	Missense	Uncertain Significance	I	<5	21667357	Exon 48	Yes
COL1A1_1312	c.3627del	p.His1210Thrfs*29	Deletion	Frameshift	Pathogenic	IV	<5	30614853	Exon 48	No
COL1A1_1313	c.3631G>A	p.Asp1211Asn	SNV	Missense	Uncertain Significance		<5	38515263	Exon 48	No
COL1A1_1314	c.3633dup	p.Gly1212Trpfs*8	Duplication	Frameshift	Pathogenic	I	<5	30614853	Exon 48	No
COL1A1_1315	c.3638del	p.Gly1213Alafs*26	Deletion	Frameshift	Pathogenic		<5	24501682, 27748872	Exon 48	No
COL1A1_1316	c.3642del	p.Tyr1215Thrfs*24	Deletion	Frameshift	Pathogenic	I	<5	37715362	Exon 48	No
COL1A1_1317	c.3646del	p.Tyr1216Thrfs*23	Deletion	Frameshift	Pathogenic		<5	29946973	Exon 48	No
COL1A1_1318	c.3647A>G	p.Tyr1216Cys	SNV	Missense	Likely Pathogenic	III, IV	<5	23929220, 38828893	Exon 48	Yes
COL1A1_1319	c.3652G>C	p.Ala1218Pro	SNV	Missense	Likely Pathogenic		<5	29669177	Exon 48	Yes
COL1A1_1320	c.3652G>A	p.Ala1218Thr	SNV	Missense	Likely Pathogenic	IV	<5	24891183, 26542481, 28173822, Show More >>	Exon 48	Yes
COL1A1_1321	c.3652del	p.Ala1218Leufs*21	Deletion	Frameshift	Pathogenic		<5	30886339	Exon 48	No
COL1A1_1322	c.3653del	p.Ala1218Valfs*21	Deletion	Frameshift	Pathogenic		<5	30886339	Exon 48	No
COL1A1_1323	c.3655G>T	p.Asp1219Tyr	SNV	Missense	Likely Pathogenic	IV	<5	31447884	Exon 48	No
COL1A1_1324	c.3655G>A	p.Asp1219Asn	SNV	Missense	Pathogenic	IV	<5	21344539, 24891183, 26542481, Show More >>	Exon 48	Yes
COL1A1_1325	c.3656A>G	p.Asp1219Gly	SNV	Missense	Likely Pathogenic		<5	35243755	Exon 48	Yes
COL1A1_1326	c.3657T>G	p.Asp1219Glu	SNV	Missense	Likely Pathogenic	I	<5	16786509, 18996919, 24891183	Exon 48	No
COL1A1_1327	c.3664A>G	p.Asn1222Asp	SNV	Missense	Uncertain Significance	IV	<5	36951356	Exon 48	Yes
COL1A1_1328	c.3665A>G	p.Asn1222Ser	SNV	Missense	Uncertain Significance		<5	33161638	Exon 48	Yes
COL1A1_1329	c.3677A>G	p.Asp1226Gly	SNV	Missense	Uncertain Significance	IV	<5	38828893	Exon 48	Yes
COL1A1_1330	c.3688G>A	p.Glu1230Lys	SNV	Missense	Uncertain Significance		<5	30567240	Exon 48	Yes
COL1A1_1331	c.3699dup	p.Thr1234Hisfs*28	Duplication	Frameshift	Pathogenic	I	<5	25146735	Exon 48	No
COL1A1_1332	c.3702C>T	p.Thr1234=	SNV	Silent	Uncertain Significance	II	<5	21341209, 21863547	Exon 48	No
COL1A1_1333	c.3709_3716del	p.Ser1237Profs*22	Deletion	Frameshift	Pathogenic		<5	31349857, 8613526	Exon 48	No
COL1A1_1334	c.3711_3712delinsG	p.Ser1237Argfs*2	Delins	Frameshift	Pathogenic		<5	31349857, 8613526	Exon 48	No
COL1A1_1335	c.3715_3716dup	p.Ser1239Argfs*93	Duplication	Frameshift	Pathogenic	I	<5	37715362	Exon 48	No
COL1A1_1336	c.3716G>A	p.Ser1239Asn	SNV	Missense	Uncertain Significance		<5		Exon 48	No
COL1A1_1337	c.3718C>T	p.Gln1240*	SNV	Nonsense	Pathogenic		<5	33939306	Exon 48	No
COL1A1_1338	c.3727G>T	p.Glu1243*	SNV	Nonsense	Pathogenic	IV	<5	30886339	Exon 48	No
COL1A1_1339	c.3727G>A	p.Glu1243Lys	SNV	Missense	Uncertain Significance		<5		Exon 48	Yes
COL1A1_1340	c.3736C>T	p.Arg1246Trp	SNV	Missense	Uncertain Significance	IV	<5	30715774	Exon 48	No
COL1A1_1341	c.3741_3747del	p.Ser1247Argfs*82	Deletion	Frameshift	Pathogenic	I	<5	25146735	Exon 48	No
COL1A1_1342	c.3746A>G	p.Glu1249Gly	SNV	Missense	Uncertain Significance		<5	33772059	Exon 48	No
COL1A1_1343	c.3749del	p.Gly1250Alafs*81	Deletion	Frameshift	Pathogenic	I	<5	29150909, 33470886	Exon 48	No
COL1A1_1344	c.3754C>A	p.Arg1252Ser	SNV	Missense	Uncertain Significance		<5		Exon 48	Yes
COL1A1_1345	c.3755G>A	p.Arg1252His	SNV	Missense	Uncertain Significance		<5	27011056	Exon 48	Yes
COL1A1_1346	c.3758dup	p.Asn1254Glufs*8	Duplication	Frameshift	Pathogenic	I	<5	29946973, 31447884	Exon 48	No
COL1A1_1347	c.3765del	p.Ala1256Profs*75	Deletion	Frameshift	Pathogenic		<5	24501682, 25146735	Exon 48	No
COL1A1_1348	c.3766G>A	p.Ala1256Thr	SNV	Missense	Likely Benign	I	<5	21667357, 27519266, 30715774, Show More >>	Exon 48	Yes
COL1A1_1349	c.3766del	p.Ala1256Profs*75	Deletion	Frameshift	Pathogenic		<5	24501682, 25146735	Exon 48	No
COL1A1_1350	c.3782_3794del	p.Asp1261Alafs*66	Deletion	Frameshift	Pathogenic	I	<5	23729740, 8808594	Exon 48	No
COL1A1_1351	c.3790_3814del	p.Met1264Glufs*59	Deletion	Frameshift	Pathogenic		<5	35052464	Exon 48	No
COL1A1_1352	c.3790A>G	p.Met1264Val	SNV	Missense	Pathogenic		<5	15235039, 24273577, 25674388, Show More >>	Exon 48	Yes
COL1A1_1353	c.3792del	p.Met1264Ilefs*67	Deletion	Frameshift	Pathogenic		<5	35052464	Exon 48	No
COL1A1_1354	c.3803A>T	p.Asp1268Val	SNV	Missense	Uncertain Significance	II	<5	35154279	Exon 48	No
COL1A1_1355	c.3803_3806del	p.Asp1268Glyfs*62	Deletion	Frameshift	Pathogenic	I	<5	25146735	Exon 48	No
COL1A1_1356	c.3806G>A	p.Trp1269*	SNV	Nonsense	Pathogenic		<5	16786509, 17392686, 30886339, Show More >>	Exon 48	Yes
COL1A1_1357	c.3807G>A	p.Trp1269*	SNV	Nonsense	Pathogenic		<5	16786509, 17392686, 30886339, Show More >>	Exon 48	Yes
COL1A1_1358	c.3814+4A>T	Intronic	SNV	Splice region	Uncertain Significance		<5	21884818	Intron 48	No
COL1A1_1359	c.3814+2T>C	Intronic	SNV	Splice donor	Pathogenic	I	<5	25963598	Intron 48	Yes
COL1A1_1360	c.3814+2T>G	Intronic	SNV	Splice donor	Pathogenic	I	<5	25963598	Intron 48	No
COL1A1_1361	c.3814+1G>T	Intronic	SNV	Splice donor	Pathogenic	I	<5	30614853, 32588564	Intron 48	Yes
COL1A1_1362	c.3814+1G>A	Intronic	SNV	Splice donor	Pathogenic	I	<5	10417276, 7942841, 9203215	Intron 48	Yes
COL1A1_1363	c.3814+1G>C	Intronic	SNV	Splice donor	Pathogenic	I	<5	25963598	Intron 48	Yes
COL1A1_1364	c.3815-2A>G	Intronic	SNV	Splice acceptor	Pathogenic	I	<5	30715774	Intron 48	No
COL1A1_1365	c.3815-1G>A	Intronic	SNV	Splice acceptor	Pathogenic	IV	<5	31447884	Intron 48	Yes
COL1A1_1366	c.3815G>T	p.Gly1272Val	SNV	Missense	Uncertain Significance	IV	<5	25146735, 39717845	Exon 49	Yes
COL1A1_1367	c.3823T>A	p.Trp1275Arg	SNV	Missense	Uncertain Significance	III, IV	<5	25146735	Exon 49	No
COL1A1_1368	c.3825G>T	p.Trp1275Cys	SNV	Missense	Uncertain Significance	III	<5	31055083	Exon 49	Yes
COL1A1_1369	c.3829G>C	p.Asp1277His	SNV	Missense	Uncertain Significance	II	<5	11826020, 15235039, 24147872, Show More >>	Exon 49	No
COL1A1_1370	c.3830A>T	p.Asp1277Val	SNV	Missense	Uncertain Significance	II	<5	37401248	Exon 49	No
COL1A1_1371	c.3831C>G	p.Asp1277Glu	SNV	Missense	Uncertain Significance	II	<5	21239989, 24616757	Exon 49	No
COL1A1_1372	c.3835A>C	p.Asn1279His	SNV	Missense	Uncertain Significance	III	<5	24147872, 27549894	Exon 49	No
COL1A1_1373	c.3839_3841delinsCA	p.Gln1280Profs*51	Delins	Frameshift	Pathogenic	II	<5	34394176	Exon 49	No
COL1A1_1374	c.3839A>C	p.Gln1280Pro	SNV	Missense	Uncertain Significance		<5	32123938	Exon 49	No
COL1A1_1375	c.3842G>T	p.Gly1281Val	SNV	Missense	Uncertain Significance	II	<5	31055083	Exon 49	Yes
COL1A1_1376	c.3855T>G	p.Asp1285Glu	SNV	Missense	Uncertain Significance		<5	30715774	Exon 49	No
COL1A1_1377	c.3855T>A	p.Asp1285Glu	SNV	Missense	Uncertain Significance		<5	30715774	Exon 49	Yes
COL1A1_1378	c.3857C>A	p.Ala1286Asp	SNV	Missense	Likely Pathogenic	I, IV	<5	25146735, 36951356, 37270749	Exon 49	No
COL1A1_1379	c.3865G>C	p.Val1289Leu	SNV	Missense	Uncertain Significance	II	<5	25289482	Exon 49	Yes
COL1A1_1380	c.3880dup	p.Glu1294Glyfs*4	Duplication	Frameshift	Pathogenic	I, III	<5	29543922, 36951356, 37895885	Exon 49	No
COL1A1_1381	c.3880_3883dup	p.Thr1295Argfs*4	Duplication	Frameshift	Pathogenic		<5	24616757	Exon 49	No
COL1A1_1382	c.3882_3891del	p.Thr1295Profs*33	Deletion	Frameshift	Pathogenic		<5	24616757	Exon 49	No
COL1A1_1383	c.3885del	p.Gly1296Valfs*35	Deletion	Frameshift	Pathogenic		<5	30715774, 37929041	Exon 49	No
COL1A1_1384	c.3887del	p.Gly1296Valfs*35	Deletion	Frameshift	Pathogenic		<5	30715774, 37929041	Exon 49	No
COL1A1_1385	c.3893C>T	p.Thr1298Ile	SNV	Missense	Likely Pathogenic	III, IV	<5	18798308, 22589248, 27748872, Show More >>	Exon 49	Yes
COL1A1_1386	c.3893C>A	p.Thr1298Asn	SNV	Missense	Likely Pathogenic	II, III, IV	<5	2014, 24147872, 27549894, Show More >>	Exon 49	Yes
COL1A1_1387	c.3895T>C	p.Cys1299Arg	SNV	Missense	Likely Pathogenic	III	<5	26371943	Exon 49	No
COL1A1_1388	c.3897C>G	p.Cys1299Trp	SNV	Missense	Likely Pathogenic	I	<5	11432962, 11826020, 24616757, Show More >>	Exon 49	Yes
COL1A1_1389	c.3897C>A	p.Cys1299*	SNV	Nonsense	Pathogenic	I, IV	<5	24147872, 25146735	Exon 49	Yes
COL1A1_1390	c.3898del	p.Val1300Cysfs*31	Deletion	Frameshift	Pathogenic	I	<5	30614853	Exon 49	No
COL1A1_1391	c.3900del	p.Tyr1301Thrfs*30	Deletion	Frameshift	Pathogenic		<5	33939306	Exon 49	No
COL1A1_1392	c.3903C>A	p.Tyr1301*	SNV	Nonsense	Pathogenic	I	<5	36709916	Exon 49	Yes
COL1A1_1393	c.3904C>T	p.Pro1302Ser	SNV	Missense	Uncertain Significance	I	<5	31363794	Exon 49	No
COL1A1_1394	c.3910C>T	p.Gln1304*	SNV	Nonsense	Pathogenic	I	<5	19358256, 24616757, 25146735, Show More >>	Exon 49	Yes
COL1A1_1395	c.3915_3916del	p.Ser1306Cysfs*122	Deletion	Frameshift	Pathogenic		<5	36896471	Exon 49	No
COL1A1_1396	c.?	p.Ala1308Ala		Missense	Uncertain Significance		<5	31082677	Exon 49	Unknown
COL1A1_1397	c.3925C>T	p.Gln1309*	SNV	Nonsense	Pathogenic	I	<5	22753364, 30886339	Exon 49	Yes
COL1A1_1398	c.3931_3935dup	p.Trp1312*	Duplication	Frameshift	Pathogenic		<5	33070251	Exon 49	No
COL1A1_1399	c.3935G>A	p.Trp1312*	SNV	Nonsense	Pathogenic		<5	33070251	Exon 49	Yes
COL1A1_1400	c.3936G>T	p.Trp1312Cys	SNV	Missense	Likely Pathogenic	II	<5	11826020, 24273577, 25146735, Show More >>	Exon 49	Yes
COL1A1_1401	c.3936G>A	p.Trp1312*	SNV	Nonsense	Pathogenic		<5	33070251	Exon 49	Yes
COL1A1_1402	c.?	p.Asp1320Glu		Missense	Uncertain Significance		<5	25583476	Exon 49	Unknown
COL1A1_1403	c.3961A>T	p.Lys1321*	SNV	Nonsense	Pathogenic	I	<5	33475155	Exon 49	No
COL1A1_1404	c.3967C>T	p.His1323Tyr	SNV	Missense	Likely Pathogenic	I	<5	15024745, 24273577, 38226081	Exon 49	Yes
COL1A1_1405	c.3969dup	p.Val1324Cysfs*105	Duplication	Frameshift	Likely Pathogenic	II	<5	2500431, 25146735, 31075690, Show More >>	Exon 49	Yes
COL1A1_1406	c.3974G>A	p.Trp1325*	SNV	Nonsense	Pathogenic		<5	15241796, 17392686	Exon 49	No
COL1A1_1407	c.3975G>A	p.Trp1325*	SNV	Nonsense	Pathogenic		<5	15241796, 17392686	Exon 49	No
COL1A1_1408	c.3977T>G	p.Phe1326Cys	SNV	Missense	Likely Pathogenic		<5	37880672	Exon 49	Yes
COL1A1_1409	c.3987C>T	p.Ser1329Ser	SNV	Silent	Uncertain Significance		<5	31082677	Exon 49	Yes
COL1A1_1410	c.3987del	p.Ser1329Argfs*2	Deletion	Frameshift	Pathogenic		<5	25146735	Exon 49	No
COL1A1_1411	c.3994del	p.Asp1332Metfs*21	Deletion	Frameshift	Pathogenic	I	<5	36951356	Exon 49	Yes
COL1A1_1412	c.4005+1G>C	Intronic	SNV	Splice donor	Pathogenic	I	<5	25963598	Intron 49	Yes
COL1A1_1413	c.4005+1G>A	Intronic	SNV	Splice donor	Pathogenic	IV	<5	30614853	Intron 49	Yes
COL1A1_1414	c.4006-1G>A	Intronic	SNV	Splice acceptor	Likely Pathogenic		<5	26799614, 31218159	Intron 49	Yes
COL1A1_1415	c.4008_4013del	p.Glu1337_Tyr1338del	Deletion	Deletion	Likely Pathogenic	II	<5	25146735, 8349697	Exon 50	No
COL1A1_1416	c.4009G>T	p.Glu1337*	SNV	Nonsense	Pathogenic	I, IV	<5	25146735, 31363794	Exon 50	No
COL1A1_1417	c.4014del	p.Tyr1338*	Deletion	Frameshift	Pathogenic		<5	30715774, 39126373	Exon 50	Yes
COL1A1_1418	c.4014T>A	p.Tyr1338*	SNV	Nonsense	Pathogenic		<5	30715774, 39126373	Exon 50	No
COL1A1_1419	c.4018G>A	p.Gly1340Ser	SNV	Missense	Likely Benign	III, IV	<5	27380894, 28748566, 33161638	Exon 50	Yes
COL1A1_1420	c.4021C>T	p.Gln1341*	SNV	Nonsense	Pathogenic	I	<5	24147872, 27132807	Exon 50	No
COL1A1_1421	c.4024G>A	p.Gly1342Ser	SNV	Missense	Uncertain Significance	I	<5	33100332	Exon 50	No
COL1A1_1422	c.4051C>T	p.Gln1351*	SNV	Nonsense	Pathogenic	I, III	<5	37293821, 38828893	Exon 50	Yes
COL1A1_1423	c.4054del	p.Leu1352*	Deletion	Frameshift	Pathogenic	I	<5	16786509	Exon 50	No
COL1A1_1424	c.4067G>A	p.Arg1356His	SNV	Missense	Uncertain Significance	II, III	<5	16786509	Exon 50	Yes
COL1A1_1425	c.4081G>A	p.Glu1361Lys	SNV	Missense	Uncertain Significance	III	<5	28281531, 33451138, 37810882	Exon 50	Yes
COL1A1_1426	c.4100C>A	p.Thr1367Asn	SNV	Missense	Uncertain Significance		<5	32595695	Exon 50	Yes
COL1A1_1427	c.4105del	p.His1369Thrfs*58	Deletion	Frameshift	Pathogenic	II	<5	25146735	Exon 50	No
COL1A1_1428	c.4108T>A	p.Cys1370Ser	SNV	Missense	Likely Pathogenic		<5	34091931	Exon 50	No
COL1A1_1429	c.4113G>A	p.Lys1371Lys	SNV	Silent	Benign		<5		Exon 50	Yes
COL1A1_1430	c.4114A>T	p.Asn1372Tyr	SNV	Missense	Uncertain Significance	III	<5	38785520	Exon 50	No
COL1A1_1431	c.4123G>A	p.Ala1375Thr	SNV	Missense	Pathogenic	I, III	<5	33939306, 36830994, 38785520	Exon 50	Yes
COL1A1_1432	c.4154A>G	p.Lys1385Arg	SNV	Missense	Uncertain Significance	III	<5	25146735	Exon 50	Yes
COL1A1_1433	c.4159G>T	p.Ala1387Ser	SNV	Missense	Uncertain Significance		<5		Exon 50	No
COL1A1_1434	c.4160C>T	p.Ala1387Val	SNV	Missense	Likely Pathogenic	II, III	<5	21834035, 24147872, 27081514, Show More >>	Exon 50	Yes
COL1A1_1435	c.4163T>G	p.Leu1388Arg	SNV	Missense	Likely Pathogenic	II	<5	11826020, 25146735, 8349697	Exon 50	No
COL1A1_1436	c.4163T>C	p.Leu1388Pro	SNV	Missense	Likely Pathogenic	IV	<5	38102329	Exon 50	Yes
COL1A1_1437	c.4166T>C	p.Leu1389Pro	SNV	Missense	Likely Pathogenic	II	<5	29499418	Exon 50	Yes
COL1A1_1438	c.4171C>T	p.Gln1391*	SNV	Nonsense	Pathogenic	I	<5	37810882	Exon 50	Yes
COL1A1_1439	c.4171C>A	p.Gln1391Lys	SNV	Missense	Uncertain Significance		<5	21884818	Exon 50	No
COL1A1_1440	c.4179C>T	p.Ser1393=	SNV	Silent	Benign		<5		Exon 50	Yes
COL1A1_1441	c.4181A>G	p.Asn1394Ser	SNV	Missense	Likely Benign		<5	25146735, 26188975, 26235824, Show More >>	Exon 50	Yes
COL1A1_1442	c.4183G>T	p.Glu1395*	SNV	Nonsense	Pathogenic	I, III	<5	33475155, 36951356	Exon 50	Yes
COL1A1_1443	c.4201G>A	p.Glu1401Lys	SNV	Missense	Uncertain Significance		<5		Exon 50	Yes
COL1A1_1444	c.4229_4237del	p.Val1410_Val1412del	Deletion	Deletion	Uncertain Significance	IV	<5	26371943	Exon 50	No
COL1A1_1445	c.4229T>A	p.Val1410Asp	SNV	Missense	Uncertain Significance	III	<5	24668929	Exon 50	No
COL1A1_1446	c.4237G>A	p.Asp1413Asn	SNV	Missense	Likely Pathogenic	II, III	<5	16786509, 18996919, 21239989, Show More >>	Exon 50	Yes
COL1A1_1447	c.4239_4249dup	p.Ser1417Metfs*5	Duplication	Frameshift	Likely Pathogenic	II	<5	21239989	Exon 50	No
COL1A1_1448	c.4239T>A	p.Asp1413Glu	SNV	Missense	Likely Pathogenic		<5	30715774	Exon 50	Yes
COL1A1_1449	c.4243_4248+2delinsCA	Intronic	Delins	Splice donor	Pathogenic	II	<5	31055083	Exon 50	No
COL1A1_1450	c.4247del	p.Thr1416Argfs*11	Deletion	Frameshift	Uncertain Significance	II	<5	21834035, 24147872, 27081514	Exon 50	Yes
COL1A1_1451	c.4248+1G>A	Intronic	SNV	Splice donor	Pathogenic	III	<5	25963598, 29543922, 33939306	Intron 50	Yes
COL1A1_1452	c.4248+1G>C	Intronic	SNV	Splice donor	Pathogenic	III	<5	25963598	Intron 50	No
COL1A1_1453	c.4249-12G>A	Intronic	SNV	Intronic	Benign		<5		Intron 50	Yes
COL1A1_1454	c.4249-3_4249-2del	Intronic	Deletion	Splice acceptor	Pathogenic	I	<5	30715774, 31737030, 31994750	Intron 50	No
COL1A1_1455	c.4249-26_4249-8del	Intronic	Deletion	Splice region	Uncertain Significance	IV	<5	30715774, 31737030	Intron 50	No
COL1A1_1456	c.4257C>T	p.Thr1419=	SNV	Silent	Benign		<5		Exon 51	Yes
COL1A1_1457	c.4261G>A	p.Ala1421Thr	SNV	Missense	Uncertain Significance		<5		Exon 51	No
COL1A1_1458	c.4262C>A	p.Ala1421Asp	SNV	Missense	Uncertain Significance		<5	35586626	Exon 51	No
COL1A1_1459	c.4263dup	p.Trp1422Leufs*7	Duplication	Frameshift	Likely Pathogenic		<5	36853784	Exon 51	No
COL1A1_1460	c.4265G>A	p.Trp1422*	SNV	Nonsense	Pathogenic	II	<5	25146735	Exon 51	No
COL1A1_1461	c.4274C>T	p.Thr1425Ile	SNV	Missense	Uncertain Significance	III	<5	26371943	Exon 51	Yes
COL1A1_1462	c.4280_4283del	p.Ile1427Asnfs*98	Deletion	Frameshift	Likely Pathogenic		<5	33800913	Exon 51	No
COL1A1_1463	c.4291A>C	p.Thr1431Pro	SNV	Missense	Likely Pathogenic		<5	24273577	Exon 51	No
COL1A1_1464	c.4292C>T	p.Thr1431Ile	SNV	Missense	Likely Pathogenic	IV	<5	21884818, 23548228, 25146735, Show More >>	Exon 51	Yes
COL1A1_1465	c.4308_4309insA	p.Leu1437Thrfs*114	Insertion	Frameshift	Likely Pathogenic		<5	23548228, 26627451, 27081514	Exon 51	No
COL1A1_1466	c.4309del	p.Leu1437Cysfs*89	Deletion	Frameshift	Likely Pathogenic		<5	23548228, 26627451, 27081514	Exon 51	No
COL1A1_1467	c.4310T>A	p.Leu1437Gln	SNV	Missense	Uncertain Significance	II	<5	23548228	Exon 51	No
COL1A1_1468	c.4313C>G	p.Pro1438Arg	SNV	Missense	Uncertain Significance		<5	24273577, 27335225	Exon 51	No
COL1A1_1469	c.4315A>G	p.Ile1439Val	SNV	Missense	Uncertain Significance		<5	27011056	Exon 51	No
COL1A1_1470	c.4316T>C	p.Ile1439Thr	SNV	Missense	Uncertain Significance	III, IV	<5	25146735	Exon 51	Yes
COL1A1_1471	c.4321G>T	p.Asp1441Tyr	SNV	Missense	Likely Pathogenic	II, III	<5	11826020, 15339338, 16786509, Show More >>	Exon 51	Yes
COL1A1_1472	c.4321G>C	p.Asp1441His	SNV	Missense	Likely Pathogenic		<5	22913777, 23548228, 30715774	Exon 51	Yes
COL1A1_1473	c.4325_4335del	p.Val1442Glyfs*105	Deletion	Frameshift	Uncertain Significance		<5	37293821	Exon 51	No
COL1A1_1474	c.4325_4347del	p.Val1442Alafs*101	Deletion	Frameshift	Uncertain Significance		<5	37293821	Exon 51	Yes
COL1A1_1475	c.4325T>G	p.Val1442Gly	SNV	Missense	Uncertain Significance	III	<5	26371943	Exon 51	No
COL1A1_1476	c.4328C>T	p.Ala1443Val	SNV	Missense	Likely Pathogenic	III	<5	30614853, 33939306	Exon 51	Yes
COL1A1_1477	c.4329_4340delinsAGACCAGGTC	p.Pro1444Aspfs*106	Delins	Frameshift	Likely Pathogenic		<5	23548228, 25146735, 30715774	Exon 51	No
COL1A1_1478	c.4329_4340delinsAGACCAGG	p.Pro1444Aspfs*81	Delins	Frameshift	Likely Pathogenic		<5	23548228, 25146735, 30715774	Exon 51	No
COL1A1_1479	c.4329_4332dup	p.Leu1445Profs*107	Duplication	Frameshift	Uncertain Significance		<5	36229437	Exon 51	No
COL1A1_1480	c.4330_4331insAAGGATGTGGCCC	p.Pro1444Glnfs*111	Insertion	Frameshift	Likely Pathogenic		<5	23548228, 25146735, 30715774	Exon 51	No
COL1A1_1481	c.4331C>A	p.Pro1444His	SNV	Missense	Likely Pathogenic	IV	<5	22589248, 31055083	Exon 51	No
COL1A1_1482	c.4331_4365del	p.Pro1444Leufs*95	Deletion	Frameshift	Likely Pathogenic		<5	23548228, 25146735, 30715774	Exon 51	No
COL1A1_1483	c.4332del	p.Leu1445Trpfs*81	Deletion	Frameshift	Uncertain Significance		<5	36229437	Exon 51	No
COL1A1_1484	c.4332dup	p.Asp1446Glyfs*105	Duplication	Frameshift	Likely Pathogenic		<5	30886339, 37810882	Exon 51	No
COL1A1_1485	c.4334del	p.Leu1445Trpfs*81	Deletion	Frameshift	Uncertain Significance		<5	36229437	Exon 51	No
COL1A1_1486	c.4335_4336del	p.Asp1446Argfs*104	Deletion	Frameshift	Likely Pathogenic		<5	30886339, 37810882	Exon 51	Yes
COL1A1_1487	c.4338dup	p.Val1447Argfs*104	Duplication	Frameshift	Likely Pathogenic		<5	12590186, 23548228, 30692697, Show More >>	Exon 51	No
COL1A1_1488	c.4339_4364del	p.Val1447Leufs*95	Deletion	Frameshift	Likely Pathogenic		<5	12590186, 23548228, 30692697, Show More >>	Exon 51	No
COL1A1_1489	c.4339del	p.Val1447Leufs*79	Deletion	Frameshift	Likely Pathogenic		<5	12590186, 23548228, 30692697, Show More >>	Exon 51	Yes
COL1A1_1490	c.4343G>T	p.Gly1448Val	SNV	Missense	Uncertain Significance	III	<5	36142253	Exon 51	No
COL1A1_1491	c.4343G>A	p.Gly1448Asp	SNV	Missense	Uncertain Significance		<5	23548228, 34277895	Exon 51	Yes
COL1A1_1492	c.4351G>T	p.Asp1451Tyr	SNV	Missense	Uncertain Significance		<5	32028018	Exon 51	Yes
COL1A1_1493	c.4352_4356del	p.Asp1451Glyfs*98	Deletion	Frameshift	Likely Pathogenic		<5	27519266, 36951356	Exon 51	No
COL1A1_1494	c.4352dup	p.Asp1451Glufs*100	Duplication	Frameshift	Likely Pathogenic		<5	27519266, 36951356	Exon 51	No
COL1A1_1495	c.4356G>C	p.Gln1452His	SNV	Missense	Uncertain Significance	III	<5	31447884	Exon 51	No
COL1A1_1496	c.4357_4361del	p.Glu1453Argfs*96	Deletion	Frameshift	Likely Pathogenic		<5	2295701, 23548228, 29354746	Exon 51	No
COL1A1_1497	c.4358_4362del	p.Glu1453Glyfs*96	Deletion	Frameshift	Likely Pathogenic		<5	2295701, 23548228, 29354746	Exon 51	Yes
COL1A1_1498	c.4363G>A	p.Gly1455Ser	SNV	Missense	Uncertain Significance		<5	25146735, 27748872	Exon 51	Yes
COL1A1_1499	c.4364G>T	p.Gly1455Val	SNV	Missense	Uncertain Significance	I	<5	30715774	Exon 51	Yes
COL1A1_1500	c.4367T>C	p.Phe1456Ser	SNV	Missense	Uncertain Significance	III	<5	30715774	Exon 51	No
COL1A1_1501	c.4369G>A	p.Asp1457Asn	SNV	Missense	Uncertain Significance		<5	37019085	Exon 51	Yes
COL1A1_1502	c.4379C>A	p.Pro1460His	SNV	Missense	Uncertain Significance		<5	24273577	Exon 51	No
COL1A1_1503	c.4381G>T	p.Val1461Phe	SNV	Missense	Uncertain Significance	III, IV	<5	29635034	Exon 51	No
COL1A1_1504	c.4386del	p.Phe1463Serfs*63	Deletion	Frameshift	Pathogenic	I	<5	28498836, 39717845	Exon 51	Yes
COL1A1_1505	c.4387T>C	p.Phe1463Leu	SNV	Missense	Benign		<5		Exon 51	Yes
COL1A1_1506	c.4391T>C	p.Leu1464Pro	SNV	Missense	Likely Pathogenic	I, III	<5	11826020, 23548228, 27519266, Show More >>	Exon 51	Yes
COL1A1_1507	c.*88T>C	3UTR	SNV	UTR	Benign		<5		Exon 51	Yes
COL1A1_1508	c.*744C>T	3UTR	SNV	UTR	Benign		<5		Exon 51	Yes

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Column Name	Table View	Detail View
Variant ID
Variant
Amino Acid Change
Variant(Protein)
Gene Symbol
Times Observed
Variant Type
Effect Type
Display Variant Classification
Variant Classification Evidence Codes
Disease Subtype
Phenotype
PMID
Location
Article Count
Present in ClinVar
Protein Domain
Laboratory Classification Last Revised Date
Clinvar AlleleID
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_000088.4.
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/
COL1A1 [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/1277. 
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Osteogenesis Imperfecta

Introduction

Variant List

Gene Structure

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