Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.188988189_188990680delinsTATGCAAAATCAAAC	CA913190219	COL3A1	c.582+55_798+320delinsTATGCAAAATCAAAC	ClinVar
2	g.188989407_188989424del	CA2499215527	COL3A1	c.648_665del (p.Pro217_Gly222del)	ClinVar dbSNP
2	g.188989407A>C	CA430308994	COL3A1	c.648A>C (p.Gly216=)
2	g.188989407A>G	CA430308992	COL3A1	c.648A>G (p.Gly216=)
2	g.188989407A>T	CA430308993	COL3A1	c.648A>T (p.Gly216=)
2	g.188989409_188996315del	CA281702	COL3A1	c.650_1564-83del c.650_1663-83del	ClinVar
2	g.188989408C>A	CA349848772	COL3A1	c.649C>A (p.Pro217Thr)
2	g.188989408C>G	CA349848773	COL3A1	c.649C>G (p.Pro217Ala)
2	g.188989408C>T	CA349848774	COL3A1	c.649C>T (p.Pro217Ser)	gnomAD v4
2	g.188989409C>A	CA349848775	COL3A1	c.650C>A (p.Pro217His)	gnomAD v4
2	g.188989409C>G	CA349848776	COL3A1	c.650C>G (p.Pro217Arg)
2	g.188989409C>T	CA349848778	COL3A1	c.650C>T (p.Pro217Leu)
2	g.188989410T>A	CA430308995	COL3A1	c.651T>A (p.Pro217=)
2	g.188989410T>C	CA430308996	COL3A1	c.651T>C (p.Pro217=)
2	g.188989410T>G	CA430308997	COL3A1	c.651T>G (p.Pro217=)
2	g.188989411C>A	CA349848779	COL3A1	c.652C>A (p.Pro218Thr)
2	g.188989411C>G	CA349848781	COL3A1	c.652C>G (p.Pro218Ala)
2	g.188989411C>T	CA349848783	COL3A1	c.652C>T (p.Pro218Ser)
2	g.188989412C>A	CA349848787	COL3A1	c.653C>A (p.Pro218His)	gnomAD v4
2	g.188989412C=	CA1315396181	COL3A1	c.653C= (p.Pro218=)
2	g.188989412C>G	CA349848784	COL3A1	c.653C>G (p.Pro218Arg)	dbSNP
2	g.188989412C>T	CA349848785	COL3A1	c.653C>T (p.Pro218Leu)
2	g.188989413T>A	CA430308998	COL3A1	c.654T>A (p.Pro218=)
2	g.188989413T>C	CA430308999	COL3A1	c.654T>C (p.Pro218=)
2	g.188989413T>G	CA430309000	COL3A1	c.654T>G (p.Pro218=)
2	g.188989414G>A	CA349848789	COL3A1	c.655G>A (p.Gly219Ser)
2	g.188989414G>C	CA349848790	COL3A1	c.655G>C (p.Gly219Arg)
2	g.188989414G=	CA1315396182	COL3A1	c.655G= (p.Gly219=)
2	g.188989414G>T	CA007196	COL3A1	c.655G>T (p.Gly219Cys)	ClinVar dbSNP
2	g.188989415G>A	CA007202	COL3A1	c.656G>A (p.Gly219Asp)	ClinVar dbSNP
2	g.188989415G>C	CA007209	COL3A1	c.656G>C (p.Gly219Ala)	ClinVar dbSNP gnomAD v4
2	g.188989415G=	CA1315396183	COL3A1	c.656G= (p.Gly219=)
2	g.188989415G>T	CA349848794	COL3A1	c.656G>T (p.Gly219Val)	gnomAD v4
2	g.188989416T>A	CA430309003	COL3A1	c.657T>A (p.Gly219=)
2	g.188989416T>C	CA430309002	COL3A1	c.657T>C (p.Gly219=)
2	g.188989416T>G	CA430309001	COL3A1	c.657T>G (p.Gly219=)
2	g.188989417G>A	CA349848795	COL3A1	c.658G>A (p.Ala220Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.188989417G>C	CA349848796	COL3A1	c.658G>C (p.Ala220Pro)	gnomAD v4
2	g.188989417G=	CA1315396184	COL3A1	c.658G= (p.Ala220=)
2	g.188989417G>T	CA349848798	COL3A1	c.658G>T (p.Ala220Ser)
2	g.188989418_188989423del	CA2586965480	COL3A1	c.659_664del (p.Ala220_Ile221del)
2	g.188989418C>A	CA349848800	COL3A1	c.659C>A (p.Ala220Asp)	gnomAD v4
2	g.188989418C=	CA1315396185	COL3A1	c.659C= (p.Ala220=)
2	g.188989418C>G	CA349848802	COL3A1	c.659C>G (p.Ala220Gly)
2	g.188989418C>T	CA62589496	COL3A1	c.659C>T (p.Ala220Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.188989419T>A	CA430309004	COL3A1	c.660T>A (p.Ala220=)
2	g.188989419T>C	CA430309005	COL3A1	c.660T>C (p.Ala220=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.188989419T>G	CA430309006	COL3A1	c.660T>G (p.Ala220=)	dbSNP gnomAD v2 gnomAD v4
2	g.188989419T=	CA1315396186	COL3A1	c.660T= (p.Ala220=)
2	g.188989421_188989422dup	CA2739278522	COL3A1	c.662_663dup (p.Gly222Ter)	ClinVar
2	g.188989420A=	CA1315396187	COL3A1	c.661A= (p.Ile221=)
2	g.188989420A>C	CA349848804	COL3A1	c.661A>C (p.Ile221Leu)
2	g.188989420A>G	CA349848807	COL3A1	c.661A>G (p.Ile221Val)	ClinVar dbSNP gnomAD v4
2	g.188989420A>T	CA349848806	COL3A1	c.661A>T (p.Ile221Leu)
2	g.188989421T>A	CA349848809	COL3A1	c.662T>A (p.Ile221Lys)
2	g.188989421T>C	CA349848810	COL3A1	c.662T>C (p.Ile221Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.188989421T>G	CA349848812	COL3A1	c.662T>G (p.Ile221Arg)
2	g.188989421T=	CA1315396188	COL3A1	c.662T= (p.Ile221=)
2	g.188989422A>C	CA430309007	COL3A1	c.663A>C (p.Ile221=)	gnomAD v4
2	g.188989422A>G	CA349848813	COL3A1	c.663A>G (p.Ile221Met)	gnomAD v4
2	g.188989422A>T	CA430309008	COL3A1	c.663A>T (p.Ile221=)
2	g.188989423G>A	CA349848815	COL3A1	c.664G>A (p.Gly222Ser)	dbSNP
2	g.188989423G>C	CA349848816	COL3A1	c.664G>C (p.Gly222Arg)
2	g.188989423G=	CA1315396189	COL3A1	c.664G= (p.Gly222=)
2	g.188989423G>T	CA349848818	COL3A1	c.664G>T (p.Gly222Cys)	gnomAD v4
2	g.188989424G>A	CA007217	COL3A1	c.665G>A (p.Gly222Asp)	ClinVar dbSNP gnomAD v4
2	g.188989424G>C	CA349848820	COL3A1	c.665G>C (p.Gly222Ala)
2	g.188989424G=	CA1315396190	COL3A1	c.665G= (p.Gly222=)
2	g.188989424G>T	CA007226	COL3A1	c.665G>T (p.Gly222Val)	ClinVar dbSNP
2	g.188989425T>A	CA430309009	COL3A1	c.666T>A (p.Gly222=)
2	g.188989425T>C	CA430309010	COL3A1	c.666T>C (p.Gly222=)
2	g.188989425T>G	CA430309011	COL3A1	c.666T>G (p.Gly222=)
2	g.188989426C>A	CA349848825	COL3A1	c.667C>A (p.Pro223Thr)	gnomAD v4
2	g.188989426C=	CA1315396191	COL3A1	c.667C= (p.Pro223=)
2	g.188989426C>G	CA349848823	COL3A1	c.667C>G (p.Pro223Ala)	ClinVar dbSNP
2	g.188989426C>T	CA349848821	COL3A1	c.667C>T (p.Pro223Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.188989427C>A	CA62589520	COL3A1	c.668C>A (p.Pro223Gln)	dbSNP gnomAD v4
2	g.188989427C=	CA1315396192	COL3A1	c.668C= (p.Pro223=)
2	g.188989427C>G	CA349848827	COL3A1	c.668C>G (p.Pro223Arg)
2	g.188989427C>T	CA349848828	COL3A1	c.668C>T (p.Pro223Leu)
2	g.188989428A=	CA1315396193	COL3A1	c.669A= (p.Pro223=)
2	g.188989428A>C	CA62589526	COL3A1	c.669A>C (p.Pro223=)	dbSNP
2	g.188989428A>G	CA430309012	COL3A1	c.669A>G (p.Pro223=)	dbSNP gnomAD v4
2	g.188989428A>T	CA430309013	COL3A1	c.669A>T (p.Pro223=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989429T>A	CA349848830	COL3A1	c.670T>A (p.Ser224Thr)
2	g.188989429T>C	CA349848832	COL3A1	c.670T>C (p.Ser224Pro)	ClinVar dbSNP
2	g.188989429T>G	CA349848833	COL3A1	c.670T>G (p.Ser224Ala)	dbSNP
2	g.188989429T=	CA1315396194	COL3A1	c.670T= (p.Ser224=)
2	g.188989430C>A	CA349848835	COL3A1	c.671C>A (p.Ser224Tyr)
2	g.188989430C>G	CA349848837	COL3A1	c.671C>G (p.Ser224Cys)
2	g.188989430C>T	CA349848838	COL3A1	c.671C>T (p.Ser224Phe)	gnomAD v4
2	g.188989431T>A	CA430309014	COL3A1	c.672T>A (p.Ser224=)
2	g.188989431T>C	CA430309015	COL3A1	c.672T>C (p.Ser224=)	gnomAD v4
2	g.188989431T>G	CA430309016	COL3A1	c.672T>G (p.Ser224=)
2	g.188989432G>A	CA349848839	COL3A1	c.673G>A (p.Gly225Ser)
2	g.188989432G>C	CA349848840	COL3A1	c.673G>C (p.Gly225Arg)
2	g.188989432G>T	CA349848842	COL3A1	c.673G>T (p.Gly225Cys)	gnomAD v4
2	g.188989433G>A	CA349848844	COL3A1	c.674G>A (p.Gly225Asp)	ClinVar dbSNP gnomAD v4
2	g.188989433G>C	CA007233	COL3A1	c.674G>C (p.Gly225Ala)	ClinVar dbSNP
2	g.188989433G=	CA1315396195	COL3A1	c.674G= (p.Gly225=)
2	g.188989433G>T	CA007242	COL3A1	c.674G>T (p.Gly225Val)	ClinVar dbSNP
2	g.188989434T>A	CA430309017	COL3A1	c.675T>A (p.Gly225=)	dbSNP
2	g.188989434T>C	CA430309018	COL3A1	c.675T>C (p.Gly225=)	gnomAD v4
2	g.188989434T>G	CA430309019	COL3A1	c.675T>G (p.Gly225=)
2	g.188989434T=	CA1315396196	COL3A1	c.675T= (p.Gly225=)
2	g.188989435C>A	CA349848848	COL3A1	c.676C>A (p.Pro226Thr)	gnomAD v4
2	g.188989435C=	CA1315396197	COL3A1	c.676C= (p.Pro226=)
2	g.188989435C>G	CA076775	COL3A1	c.676C>G (p.Pro226Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188989435C>T	CA349848847	COL3A1	c.676C>T (p.Pro226Ser)	ClinVar gnomAD v4
2	g.188989436C>A	CA349848850	COL3A1	c.677C>A (p.Pro226His)	gnomAD v4
2	g.188989436C=	CA1315396198	COL3A1	c.677C= (p.Pro226=)
2	g.188989436C>G	CA349848852	COL3A1	c.677C>G (p.Pro226Arg)
2	g.188989436C>T	CA349848853	COL3A1	c.677C>T (p.Pro226Leu)	ClinVar dbSNP COSMIC COSMIC
2	g.188989437T>A	CA430309022	COL3A1	c.678T>A (p.Pro226=)
2	g.188989437T>C	CA430309021	COL3A1	c.678T>C (p.Pro226=)	ClinVar dbSNP gnomAD v2
2	g.188989437T>G	CA430309020	COL3A1	c.678T>G (p.Pro226=)
2	g.188989437T=	CA1315396199	COL3A1	c.678T= (p.Pro226=)
2	g.188989438G>A	CA349848858	COL3A1	c.679G>A (p.Ala227Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.188989438G>C	CA349848856	COL3A1	c.679G>C (p.Ala227Pro)	COSMIC
2	g.188989438G=	CA1315396200	COL3A1	c.679G= (p.Ala227=)
2	g.188989438G>T	CA349848854	COL3A1	c.679G>T (p.Ala227Ser)	ClinVar gnomAD v4
2	g.188989439C>A	CA349848859	COL3A1	c.680C>A (p.Ala227Asp)	gnomAD v4
2	g.188989439C>G	CA349848861	COL3A1	c.680C>G (p.Ala227Gly)
2	g.188989439C>T	CA349848862	COL3A1	c.680C>T (p.Ala227Val)	gnomAD v4
2	g.188989440T>A	CA430309023	COL3A1	c.681T>A (p.Ala227=)
2	g.188989440T>C	CA62589530	COL3A1	c.681T>C (p.Ala227=)	dbSNP gnomAD v4
2	g.188989440T>G	CA430309024	COL3A1	c.681T>G (p.Ala227=)	gnomAD v4
2	g.188989440T=	CA1315396201	COL3A1	c.681T= (p.Ala227=)
2	g.188989441G>A	CA349848864	COL3A1	c.682G>A (p.Gly228Arg)
2	g.188989441G>C	CA007250	COL3A1	c.682G>C (p.Gly228Arg)	ClinVar dbSNP
2	g.188989441G=	CA1315396202	COL3A1	c.682G= (p.Gly228=)
2	g.188989441G>T	CA349848866	COL3A1	c.682G>T (p.Gly228Ter)	COSMIC COSMIC
2	g.188989442del	CA2662286782	COL3A1	c.683del (p.Gly228GlufsTer?)	gnomAD v4
2	g.188989442G>A	CA007257	COL3A1	c.683G>A (p.Gly228Glu)	ClinVar dbSNP COSMIC
2	g.188989442G>C	CA349848870	COL3A1	c.683G>C (p.Gly228Ala)
2	g.188989442G=	CA1315396203	COL3A1	c.683G= (p.Gly228=)
2	g.188989442G>T	CA349848868	COL3A1	c.683G>T (p.Gly228Val)
2	g.188989443A>C	CA430309025	COL3A1	c.684A>C (p.Gly228=)
2	g.188989443A>G	CA430309027	COL3A1	c.684A>G (p.Gly228=)	gnomAD v4
2	g.188989443A>T	CA430309026	COL3A1	c.684A>T (p.Gly228=)
2	g.188989444A>C	CA349848872	COL3A1	c.685A>C (p.Lys229Gln)
2	g.188989444A>G	CA349848873	COL3A1	c.685A>G (p.Lys229Glu)
2	g.188989444A>T	CA349848875	COL3A1	c.685A>T (p.Lys229Ter)
2	g.188989445A>C	CA349848876	COL3A1	c.686A>C (p.Lys229Thr)
2	g.188989445A>G	CA349848878	COL3A1	c.686A>G (p.Lys229Arg)
2	g.188989445A>T	CA349848879	COL3A1	c.686A>T (p.Lys229Ile)
2	g.188989446A>C	CA349848881	COL3A1	c.687A>C (p.Lys229Asn)
2	g.188989446A>G	CA430309028	COL3A1	c.687A>G (p.Lys229=)	gnomAD v4
2	g.188989446A>T	CA349848882	COL3A1	c.687A>T (p.Lys229Asn)	ClinVar
2	g.188989447G>A	CA349848884	COL3A1	c.688G>A (p.Asp230Asn)
2	g.188989447G>C	CA349848886	COL3A1	c.688G>C (p.Asp230His)
2	g.188989447G>T	CA349848887	COL3A1	c.688G>T (p.Asp230Tyr)
2	g.188989448A=	CA1315396205	COL3A1	c.689A= (p.Asp230=)
2	g.188989448A>C	CA349848891	COL3A1	c.689A>C (p.Asp230Ala)
2	g.188989448A>G	CA349848890	COL3A1	c.689A>G (p.Asp230Gly)	dbSNP
2	g.188989448A>T	CA349848888	COL3A1	c.689A>T (p.Asp230Val)
2	g.188989448_188989449delinsAT	CA1315396204	COL3A1	c.689_690delinsAT (p.Asp230=)
2	g.188989449del	CA076792	COL3A1	c.690del (p.Asp230GlufsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188989449T>A	CA349848892	COL3A1	c.690T>A (p.Asp230Glu)
2	g.188989449T>C	CA430309029	COL3A1	c.690T>C (p.Asp230=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.188989449T>G	CA349848894	COL3A1	c.690T>G (p.Asp230Glu)	gnomAD v4
2	g.188989449T=	CA1315396206	COL3A1	c.690T= (p.Asp230=)
2	g.188989450G>A	CA007265	COL3A1	c.690+1G>A (n.690+1G>A)	ClinVar dbSNP gnomAD v4
2	g.188989450G>C	CA349848897	COL3A1	c.690+1G>C (n.690+1G>C)	gnomAD v4
2	g.188989450G=	CA1315396207	COL3A1	c.690+1G= (n.690+1G=)
2	g.188989450G>T	CA349848898	COL3A1	c.690+1G>T (n.690+1G>T)	gnomAD v4
2	g.188989451T>A	CA007273	COL3A1	c.690+2T>A (n.690+2T>A)	ClinVar dbSNP
2	g.188989451T>C	CA349848900	COL3A1	c.690+2T>C (n.690+2T>C)
2	g.188989451T>G	CA007280	COL3A1	c.690+2T>G (n.690+2T>G)	ClinVar dbSNP
2	g.188989451T=	CA1315396208	COL3A1	c.690+2T= (n.690+2T=)
2	g.188989452A=	CA1315396209	COL3A1	c.690+3A= (n.690+3A=)
2	g.188989452A>G	CA538441067	COL3A1	c.690+3A>G (n.690+3A>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989453del	CA2662286798	COL3A1	c.690+4del (n.690+4del)	gnomAD v4
2	g.188989453A>C	CA2662286801	COL3A1	c.690+4A>C (n.690+4A>C)	gnomAD v4
2	g.188989455T>A	CA762191858	COL3A1	c.690+6T>A (n.690+6T>A)	dbSNP gnomAD v4
2	g.188989455T>C	CA2662286803	COL3A1	c.690+6T>C (n.690+6T>C)	gnomAD v4
2	g.188989455T=	CA1315396210	COL3A1	c.690+6T= (n.690+6T=)
2	g.188989459del	CA2662286802	COL3A1	c.690+10del (n.690+10del)	gnomAD v4
2	g.188989456T>C	CA2573133050	COL3A1	c.690+7T>C (n.690+7T>C)	ClinVar dbSNP
2	g.188989457T>A	CA2753571970	COL3A1	c.690+8T>A (n.690+8T>A)
2	g.188989458T>A	CA2753571971	COL3A1	c.690+9T>A (n.690+9T>A)
2	g.188989458T>C	CA076790	COL3A1	c.690+9T>C (n.690+9T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989458T=	CA1315396211	COL3A1	c.690+9T= (n.690+9T=)
2	g.188989459T>A	CA2577185159	COL3A1	c.690+10T>A (n.690+10T>A)	gnomAD v4
2	g.188989459T>C	CA2662286809	COL3A1	c.690+10T>C (n.690+10T>C)	gnomAD v4
2	g.188989460A=	CA1315396212	COL3A1	c.690+11A= (n.690+11A=)
2	g.188989460A>G	CA076777	COL3A1	c.690+11A>G (n.690+11A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188989460A>T	CA076779	COL3A1	c.690+11A>T (n.690+11A>T)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.188989461A>G	CA2580065290	COL3A1	c.690+12A>G (n.690+12A>G)	ClinVar
2	g.188989462A=	CA1315396213	COL3A1	c.690+13A= (n.690+13A=)
2	g.188989462A>T	CA076781	COL3A1	c.690+13A>T (n.690+13A>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989463A>C	CA2577185160	COL3A1	c.690+14A>C (n.690+14A>C)
2	g.188989463A>G	CA2662286816	COL3A1	c.690+14A>G (n.690+14A>G)	gnomAD v4
2	g.188989464C>A	CA2662286820	COL3A1	c.690+15C>A (n.690+15C>A)	gnomAD v4
2	g.188989464C=	CA1315396214	COL3A1	c.690+15C= (n.690+15C=)
2	g.188989464C>T	CA076782	COL3A1	c.690+15C>T (n.690+15C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989465T>C	CA1040404514	COL3A1	c.690+16T>C (n.690+16T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188989465T>G	CA1040404511	COL3A1	c.690+16T>G (n.690+16T>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188989465T=	CA1315396215	COL3A1	c.690+16T= (n.690+16T=)
2	g.188989467_188989468insTTTA	CA2701314768	COL3A1	c.690+18_690+19insTTTA (n.690+18_690+19insTTTA)	dbSNP
2	g.188989466T>C	CA2662286822	COL3A1	c.690+17T>C (n.690+17T>C)	gnomAD v4
2	g.188989468A>C	CA2577185161	COL3A1	c.690+19A>C (n.690+19A>C)	gnomAD v4
2	g.188989468A>G	CA2662286824	COL3A1	c.690+19A>G (n.690+19A>G)	gnomAD v4
2	g.188989469A>G	CA2662286825	COL3A1	c.690+20A>G (n.690+20A>G)	gnomAD v4
2	g.188989469A>T	CA2662286826	COL3A1	c.690+20A>T (n.690+20A>T)	gnomAD v4
2	g.188989470T>A	CA1315396217	COL3A1	c.690+21T>A (n.690+21T>A)	dbSNP
2	g.188989470T=	CA1315396216	COL3A1	c.690+21T= (n.690+21T=)
2	g.188989472del	CA2662286827	COL3A1	c.690+23del (n.690+23del)	gnomAD v4
2	g.188989472A=	CA1315396218	COL3A1	c.690+23A= (n.690+23A=)
2	g.188989472A>G	CA538441068	COL3A1	c.690+23A>G (n.690+23A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.188989473G>A	CA62589629	COL3A1	c.690+24G>A (n.690+24G>A)	dbSNP gnomAD v4
2	g.188989473G>C	CA2581798772	COL3A1	c.690+24G>C (n.690+24G>C)
2	g.188989473G=	CA1315396219	COL3A1	c.690+24G= (n.690+24G=)
2	g.188989473G>T	CA076784	COL3A1	c.690+24G>T (n.690+24G>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989474A>T	CA2662286832	COL3A1	c.690+25A>T (n.690+25A>T)	gnomAD v4
2	g.188989475A=	CA1315396220	COL3A1	c.690+26A= (n.690+26A=)
2	g.188989475A>T	CA1040404525	COL3A1	c.690+26A>T (n.690+26A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188989476T>C	CA2662286834	COL3A1	c.690+27T>C (n.690+27T>C)	gnomAD v4
2	g.188989477A=	CA1315396221	COL3A1	c.690+28A= (n.690+28A=)
2	g.188989477A>G	CA076786	COL3A1	c.690+28A>G (n.690+28A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188989478C>A	CA2662286836	COL3A1	c.690+29C>A (n.690+29C>A)	gnomAD v4
2	g.188989478C=	CA1315396222	COL3A1	c.690+29C= (n.690+29C=)
2	g.188989478C>T	CA62589649	COL3A1	c.690+29C>T (n.690+29C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188989479A=	CA1315396223	COL3A1	c.690+30A= (n.690+30A=)
2	g.188989479A>C	CA1315396224	COL3A1	c.690+30A>C (n.690+30A>C)	dbSNP gnomAD v4
2	g.188989479A>G	CA2662286837	COL3A1	c.690+30A>G (n.690+30A>G)	gnomAD v4
2	g.188989480G>A	CA2662286838	COL3A1	c.690+31G>A (n.690+31G>A)	gnomAD v4
2	g.188989480G>T	CA2662286839	COL3A1	c.690+31G>T (n.690+31G>T)	gnomAD v4
2	g.188989481C>A	CA2662286840	COL3A1	c.690+32C>A (n.690+32C>A)	gnomAD v4
2	g.188989481C>G	CA2662286841	COL3A1	c.690+32C>G (n.690+32C>G)	gnomAD v4
2	g.188989481C>T	CA2662286842	COL3A1	c.690+32C>T (n.690+32C>T)	gnomAD v4
2	g.188989482A>G	CA2662286843	COL3A1	c.690+33A>G (n.690+33A>G)	gnomAD v4
2	g.188989483A>C	CA2662286844	COL3A1	c.690+34A>C (n.690+34A>C)	gnomAD v4
2	g.188989483A>G	CA2662286845	COL3A1	c.690+34A>G (n.690+34A>G)	gnomAD v4
2	g.188989487T>G	CA1315396226	COL3A1	c.690+38T>G (n.690+38T>G)	dbSNP gnomAD v4
2	g.188989487T=	CA1315396225	COL3A1	c.690+38T= (n.690+38T=)
2	g.188989488T>A	CA2662286846	COL3A1	c.690+39T>A (n.690+39T>A)	gnomAD v4
2	g.188989489A>G	CA2662286847	COL3A1	c.690+40A>G (n.690+40A>G)	gnomAD v4
2	g.188989489A>T	CA2662286848	COL3A1	c.690+40A>T (n.690+40A>T)	gnomAD v4
2	g.188989490A=	CA1315396227	COL3A1	c.690+41A= (n.690+41A=)
2	g.188989490A>G	CA1315396228	COL3A1	c.690+41A>G (n.690+41A>G)	dbSNP gnomAD v4
2	g.188989491C>A	CA2662286849	COL3A1	c.690+42C>A (n.690+42C>A)	gnomAD v4
2	g.188989491C=	CA1315396229	COL3A1	c.690+42C= (n.690+42C=)
2	g.188989491C>G	CA538441069	COL3A1	c.690+42C>G (n.690+42C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989491C>T	CA2662286850	COL3A1	c.690+42C>T (n.690+42C>T)	gnomAD v4
2	g.188989492T>C	CA2662286851	COL3A1	c.690+43T>C (n.690+43T>C)	gnomAD v4
2	g.188989492T>G	CA538441070	COL3A1	c.690+43T>G (n.690+43T>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989492T=	CA1315396230	COL3A1	c.690+43T= (n.690+43T=)
2	g.188989494G>A	CA1040404533	COL3A1	c.690+45G>A (n.690+45G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.188989494G>C	CA2662286852	COL3A1	c.690+45G>C (n.690+45G>C)	gnomAD v4
2	g.188989494G=	CA1315396231	COL3A1	c.690+45G= (n.690+45G=)
2	g.188989494G>T	CA2662286853	COL3A1	c.690+45G>T (n.690+45G>T)	gnomAD v4
2	g.188989495G>A	CA2662286854	COL3A1	c.690+46G>A (n.690+46G>A)	gnomAD v4
2	g.188989495G=	CA1315396232	COL3A1	c.690+46G= (n.690+46G=)
2	g.188989495G>T	CA1040404538	COL3A1	c.690+46G>T (n.690+46G>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188989496T>C	CA2539374236	COL3A1	c.690+47T>C (n.690+47T>C)	gnomAD v4
2	g.188989497G>A	CA2662286855	COL3A1	c.690+48G>A (n.690+48G>A)	gnomAD v4
2	g.188989498T>A	CA2662286856	COL3A1	c.690+49T>A (n.690+49T>A)	gnomAD v4
2	g.188989498T>G	CA076788	COL3A1	c.690+49T>G (n.690+49T>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989498T=	CA1315396233	COL3A1	c.690+49T= (n.690+49T=)
2	g.188989499A=	CA1315396234	COL3A1	c.690+50A= (n.690+50A=)
2	g.188989499A>G	CA762191876	COL3A1	c.690+50A>G (n.690+50A>G)	dbSNP
2	g.188989500T>C	CA2577185162	COL3A1	c.690+51T>C (n.690+51T>C)
2	g.188989502C>A	CA2662286857	COL3A1	c.690+53C>A (n.690+53C>A)	gnomAD v4
2	g.188989502C>G	CA2662286858	COL3A1	c.690+53C>G (n.690+53C>G)	gnomAD v4
2	g.188989503T>A	CA2577185163	COL3A1	c.690+54T>A (n.690+54T>A)
2	g.188989504A=	CA1315396235	COL3A1	c.690+55A= (n.690+55A=)
2	g.188989504A>G	CA1315396236	COL3A1	c.690+55A>G (n.690+55A>G)	dbSNP gnomAD v4
2	g.188989506A=	CA1315396237	COL3A1	c.690+57A= (n.690+57A=)
2	g.188989506A>G	CA62589664	COL3A1	c.690+57A>G (n.690+57A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989507C>A	CA2662286860	COL3A1	c.690+58C>A (n.690+58C>A)	gnomAD v4
2	g.188989507C=	CA1315396238	COL3A1	c.690+58C= (n.690+58C=)
2	g.188989507C>T	CA62589695	COL3A1	c.690+58C>T (n.690+58C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188989507dup	CA2662286859	COL3A1	c.690+58dup (n.690+58dup)	gnomAD v4

Number of alleles fetched