Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.188989409_188996315del	CA281702	COL3A1	c.650_1564-83del c.650_1663-83del	ClinVar
2	g.188991418C>A	CA1315396518	COL3A1	c.853-69C>A (n.853-69C>A)	dbSNP gnomAD v4
2	g.188991418C=	CA1315396516	COL3A1	c.853-69C= (n.853-69C=)
2	g.188991420G>T	CA2662287787	COL3A1	c.853-67G>T (n.853-67G>T)	gnomAD v4
2	g.188991422A>G	CA2662287788	COL3A1	c.853-65A>G (n.853-65A>G)	gnomAD v4
2	g.188991423T>A	CA2662287789	COL3A1	c.853-64T>A (n.853-64T>A)	gnomAD v4
2	g.188991423T>C	CA2662287790	COL3A1	c.853-64T>C (n.853-64T>C)	gnomAD v4
2	g.188991423T>G	CA2662287791	COL3A1	c.853-64T>G (n.853-64T>G)	gnomAD v4
2	g.188991425T=	CA1315396519	COL3A1	c.853-62T= (n.853-62T=)
2	g.188991426A=	CA1315396522	COL3A1	c.853-61A= (n.853-61A=)
2	g.188991426A>T	CA62592598	COL3A1	c.853-61A>T (n.853-61A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188991428_188991430dup	CA1315396523	COL3A1	c.853-59_853-57dup (n.853-59_853-57dup)	dbSNP
2	g.188991430del	CA2577185225	COL3A1	c.853-57del (n.853-57del)
2	g.188991429A>G	CA2577185226	COL3A1	c.853-58A>G (n.853-58A>G)
2	g.188991434_188991440dup	CA2662287792	COL3A1	c.853-53_853-47dup (n.853-53_853-47dup)	gnomAD v4
2	g.188991429_188991430insT	CA2662287793	COL3A1	c.853-58_853-57insT (n.853-58_853-57insT)	gnomAD v4
2	g.188991430A>G	CA2577185227	COL3A1	c.853-57A>G (n.853-57A>G)	gnomAD v4
2	g.188991431T>C	CA2662287794	COL3A1	c.853-56T>C (n.853-56T>C)	gnomAD v4
2	g.188991432A=	CA1315396528	COL3A1	c.853-55A= (n.853-55A=)
2	g.188991432A>T	CA62592611	COL3A1	c.853-55A>T (n.853-55A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188991433T>C	CA2577185228	COL3A1	c.853-54T>C (n.853-54T>C)	gnomAD v4
2	g.188991437_188991439del	CA2662287795	COL3A1	c.853-50_853-48del (n.853-50_853-48del)	gnomAD v4
2	g.188991436A=	CA1315396532	COL3A1	c.853-51A= (n.853-51A=)
2	g.188991436A>G	CA1315396534	COL3A1	c.853-51A>G (n.853-51A>G)	dbSNP gnomAD v4
2	g.188991437A>C	CA2701316312	COL3A1	c.853-50A>C (n.853-50A>C)	dbSNP
2	g.188991438T>C	CA2577185229	COL3A1	c.853-49T>C (n.853-49T>C)	gnomAD v4
2	g.188991439A>C	CA2662287796	COL3A1	c.853-48A>C (n.853-48A>C)	gnomAD v4
2	g.188991440T>C	CA077008	COL3A1	c.853-47T>C (n.853-47T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991440T=	CA1315396537	COL3A1	c.853-47T= (n.853-47T=)
2	g.188991442T>C	CA2662287797	COL3A1	c.853-45T>C (n.853-45T>C)	gnomAD v4
2	g.188991443T>C	CA538441140	COL3A1	c.853-44T>C (n.853-44T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991443T>G	CA077006	COL3A1	c.853-44T>G (n.853-44T>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991443T=	CA1315396543	COL3A1	c.853-44T= (n.853-44T=)
2	g.188991444C>A	CA2662287799	COL3A1	c.853-43C>A (n.853-43C>A)	gnomAD v4
2	g.188991444C=	CA1315396547	COL3A1	c.853-43C= (n.853-43C=)
2	g.188991444C>T	CA077005	COL3A1	c.853-43C>T (n.853-43C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991445T>A	CA2577185230	COL3A1	c.853-42T>A (n.853-42T>A)
2	g.188991445T>C	CA2662287800	COL3A1	c.853-42T>C (n.853-42T>C)	gnomAD v4
2	g.188991446T>C	CA2662287801	COL3A1	c.853-41T>C (n.853-41T>C)	gnomAD v4
2	g.188991447C>A	CA2662287802	COL3A1	c.853-40C>A (n.853-40C>A)	gnomAD v4
2	g.188991447C=	CA1315396549	COL3A1	c.853-40C= (n.853-40C=)
2	g.188991447C>T	CA077003	COL3A1	c.853-40C>T (n.853-40C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991448C>A	CA762192812	COL3A1	c.853-39C>A (n.853-39C>A)	dbSNP gnomAD v4
2	g.188991448C=	CA1315396550	COL3A1	c.853-39C= (n.853-39C=)
2	g.188991448C>T	CA2662287803	COL3A1	c.853-39C>T (n.853-39C>T)	gnomAD v4
2	g.188991449T>C	CA1315396553	COL3A1	c.853-38T>C (n.853-38T>C)	dbSNP gnomAD v4
2	g.188991449T=	CA1315396552	COL3A1	c.853-38T= (n.853-38T=)
2	g.188991450C>A	CA2662287804	COL3A1	c.853-37C>A (n.853-37C>A)	gnomAD v4
2	g.188991450C=	CA1315396557	COL3A1	c.853-37C= (n.853-37C=)
2	g.188991450C>G	CA62592656	COL3A1	c.853-37C>G (n.853-37C>G)	dbSNP gnomAD v2 gnomAD v4
2	g.188991451T>C	CA2577185231	COL3A1	c.853-36T>C (n.853-36T>C)	gnomAD v4
2	g.188991454del	CA2662287805	COL3A1	c.853-33del (n.853-33del)	gnomAD v4
2	g.188991453T>C	CA2662287806	COL3A1	c.853-34T>C (n.853-34T>C)	gnomAD v4
2	g.188991455G>A	CA2662287807	COL3A1	c.853-32G>A (n.853-32G>A)	gnomAD v4
2	g.188991458_188991477del	CA2662287808	COL3A1	c.853-29_853-10del (n.853-29_853-10del)	gnomAD v4
2	g.188991457A>C	CA2662287810	COL3A1	c.853-30A>C (n.853-30A>C)	gnomAD v4
2	g.188991457A>G	CA2662287811	COL3A1	c.853-30A>G (n.853-30A>G)	gnomAD v4
2	g.188991460del	CA2662287809	COL3A1	c.853-27del (n.853-27del)	gnomAD v4
2	g.188991458A>G	CA2662287812	COL3A1	c.853-29A>G (n.853-29A>G)	gnomAD v4
2	g.188991460A=	CA1315396559	COL3A1	c.853-27A= (n.853-27A=)
2	g.188991460A>G	CA077001	COL3A1	c.853-27A>G (n.853-27A>G)	dbSNP ExAC gnomAD v3 gnomAD v4
2	g.188991460A>T	CA1040405390	COL3A1	c.853-27A>T (n.853-27A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188991461T>C	CA2662287813	COL3A1	c.853-26T>C (n.853-26T>C)	gnomAD v4
2	g.188991462A=	CA1315396560	COL3A1	c.853-25A= (n.853-25A=)
2	g.188991462A>G	CA076999	COL3A1	c.853-25A>G (n.853-25A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991462_188991463insT	CA2662287814	COL3A1	c.853-25_853-24insT (n.853-25_853-24insT)	gnomAD v4
2	g.188991463G>A	CA076998	COL3A1	c.853-24G>A (n.853-24G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991463G>C	CA2662287815	COL3A1	c.853-24G>C (n.853-24G>C)	gnomAD v4
2	g.188991463G=	CA1315396562	COL3A1	c.853-24G= (n.853-24G=)
2	g.188991464T>A	CA2662287816	COL3A1	c.853-23T>A (n.853-23T>A)	gnomAD v4
2	g.188991464T>C	CA538441141	COL3A1	c.853-23T>C (n.853-23T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991464T=	CA1315396565	COL3A1	c.853-23T= (n.853-23T=)
2	g.188991465A=	CA1315396567	COL3A1	c.853-22A= (n.853-22A=)
2	g.188991465A>G	CA1040405396	COL3A1	c.853-22A>G (n.853-22A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188991465A>T	CA2662287817	COL3A1	c.853-22A>T (n.853-22A>T)	gnomAD v4
2	g.188991466A>G	CA2662287818	COL3A1	c.853-21A>G (n.853-21A>G)	gnomAD v4
2	g.188991467C>A	CA2662287819	COL3A1	c.853-20C>A (n.853-20C>A)	gnomAD v4
2	g.188991467C=	CA1315396570	COL3A1	c.853-20C= (n.853-20C=)
2	g.188991467C>G	CA076996	COL3A1	c.853-20C>G (n.853-20C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991467_188991469delinsCAT	CA1315396572	COL3A1	c.853-20_853-18delinsCAT (n.853-20_853-18delinsCAT)
2	g.188991468del	CA2662287820	COL3A1	c.853-19del (n.853-19del)	gnomAD v4
2	g.188991468A>G	CA2577185232	COL3A1	c.853-19A>G (n.853-19A>G)	ClinVar gnomAD v4
2	g.188991470_188991471del	CA538441142	COL3A1	c.853-17_853-16del (n.853-17_853-16del)	dbSNP gnomAD v2 gnomAD v4
2	g.188991469T>C	CA076994	COL3A1	c.853-18T>C (n.853-18T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991469T=	CA1315396574	COL3A1	c.853-18T= (n.853-18T=)
2	g.188991470A=	CA1315396576	COL3A1	c.853-17A= (n.853-17A=)
2	g.188991470A>C	CA2577185233	COL3A1	c.853-17A>C (n.853-17A>C)
2	g.188991470A>G	CA762192825	COL3A1	c.853-17A>G (n.853-17A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188991471T>A	CA2662287822	COL3A1	c.853-16T>A (n.853-16T>A)	gnomAD v4
2	g.188991471T>C	CA076993	COL3A1	c.853-16T>C (n.853-16T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991471T=	CA1315396577	COL3A1	c.853-16T= (n.853-16T=)
2	g.188991474dup	CA2753572045	COL3A1	c.853-13dup (n.853-13dup)
2	g.188991474del	CA2662287821	COL3A1	c.853-13del (n.853-13del)	gnomAD v4
2	g.188991473T>A	CA62592705	COL3A1	c.853-14T>A (n.853-14T>A)	dbSNP gnomAD v3 gnomAD v4
2	g.188991473T>C	CA2662287823	COL3A1	c.853-14T>C (n.853-14T>C)	gnomAD v4
2	g.188991473T>G	CA2662287824	COL3A1	c.853-14T>G (n.853-14T>G)	gnomAD v4
2	g.188991473T=	CA1315396580	COL3A1	c.853-14T= (n.853-14T=)
2	g.188991474T>C	CA762192829	COL3A1	c.853-13T>C (n.853-13T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188991474T=	CA1315396582	COL3A1	c.853-13T= (n.853-13T=)
2	g.188991475A=	CA1315396584	COL3A1	c.853-12A= (n.853-12A=)
2	g.188991475A>C	CA62592709	COL3A1	c.853-12A>C (n.853-12A>C)	dbSNP
2	g.188991475A>G	CA2662287825	COL3A1	c.853-12A>G (n.853-12A>G)	gnomAD v4
2	g.188991475A>T	CA2662287826	COL3A1	c.853-12A>T (n.853-12A>T)	gnomAD v4
2	g.188991477A=	CA1315396587	COL3A1	c.853-10A= (n.853-10A=)
2	g.188991477A>C	CA913187969	COL3A1	c.853-10A>C (n.853-10A>C)	ClinVar dbSNP
2	g.188991477A>G	CA2662287827	COL3A1	c.853-10A>G (n.853-10A>G)	gnomAD v4
2	g.188991477A>T	CA2662287828	COL3A1	c.853-10A>T (n.853-10A>T)	gnomAD v4
2	g.188991478T>C	CA2662287829	COL3A1	c.853-9T>C (n.853-9T>C)	gnomAD v4
2	g.188991479G>A	CA077011	COL3A1	c.853-8G>A (n.853-8G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991479G=	CA1315396589	COL3A1	c.853-8G= (n.853-8G=)
2	g.188991480T>C	CA077009	COL3A1	c.853-7T>C (n.853-7T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991480T=	CA1315396593	COL3A1	c.853-7T= (n.853-7T=)
2	g.188991481A>G	CA2662287830	COL3A1	c.853-6A>G (n.853-6A>G)	gnomAD v4
2	g.188991482T>C	CA2577185234	COL3A1	c.853-5T>C (n.853-5T>C)
2	g.188991482T>G	CA2662287831	COL3A1	c.853-5T>G (n.853-5T>G)	gnomAD v4
2	g.188991483C>A	CA2662287832	COL3A1	c.853-4C>A (n.853-4C>A)	gnomAD v4
2	g.188991483C=	CA1315396600	COL3A1	c.853-4C= (n.853-4C=)
2	g.188991483C>G	CA913187970	COL3A1	c.853-4C>G (n.853-4C>G)	ClinVar dbSNP
2	g.188991483C>T	CA913187971	COL3A1	c.853-4C>T (n.853-4C>T)	ClinVar dbSNP gnomAD v4
2	g.188991484T>C	CA2662287833	COL3A1	c.853-3T>C (n.853-3T>C)	gnomAD v4
2	g.188991485A>C	CA349849856	COL3A1	c.853-2A>C (n.853-2A>C)
2	g.188991485A>G	CA349849857	COL3A1	c.853-2A>G (n.853-2A>G)	gnomAD v4
2	g.188991485A>T	CA349849858	COL3A1	c.853-2A>T (n.853-2A>T)
2	g.188991486G>A	CA349849861	COL3A1	c.853-1G>A (n.853-1G>A)
2	g.188991486G>C	CA349849860	COL3A1	c.853-1G>C (n.853-1G>C)
2	g.188991486G>T	CA349849859	COL3A1	c.853-1G>T (n.853-1G>T)
2	g.188991487G>A	CA349849862	COL3A1	c.853G>A (p.Gly285Ser)
2	g.188991487G>C	CA349849863	COL3A1	c.853G>C (p.Gly285Arg)
2	g.188991487G>T	CA349849864	COL3A1	c.853G>T (p.Gly285Cys)
2	g.188991488G>A	CA349849865	COL3A1	c.854G>A (p.Gly285Asp)
2	g.188991488G>C	CA349849866	COL3A1	c.854G>C (p.Gly285Ala)
2	g.188991488G>T	CA349849867	COL3A1	c.854G>T (p.Gly285Val)
2	g.188991489T>A	CA430309156	COL3A1	c.855T>A (p.Gly285=)
2	g.188991489T>C	CA430309157	COL3A1	c.855T>C (p.Gly285=)
2	g.188991489T>G	CA430309158	COL3A1	c.855T>G (p.Gly285=)	gnomAD v4
2	g.188991490G>A	CA349849868	COL3A1	c.856G>A (p.Glu286Lys)	gnomAD v4
2	g.188991490G>C	CA349849870	COL3A1	c.856G>C (p.Glu286Gln)
2	g.188991490G>T	CA349849869	COL3A1	c.856G>T (p.Glu286Ter)
2	g.188991491A>C	CA349849871	COL3A1	c.857A>C (p.Glu286Ala)
2	g.188991491A>G	CA349849872	COL3A1	c.857A>G (p.Glu286Gly)
2	g.188991491A>T	CA349849873	COL3A1	c.857A>T (p.Glu286Val)
2	g.188991494del	CA2662287834	COL3A1	c.860del (p.Asn287MetfsTer?)	gnomAD v4
2	g.188991492A=	CA1315396605	COL3A1	c.858A= (p.Glu286=)
2	g.188991492A>C	CA077013	COL3A1	c.858A>C (p.Glu286Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991492A>G	CA430309159	COL3A1	c.858A>G (p.Glu286=)
2	g.188991492A>T	CA349849874	COL3A1	c.858A>T (p.Glu286Asp)
2	g.188991493A>C	CA349849875	COL3A1	c.859A>C (p.Asn287His)
2	g.188991493A>G	CA349849876	COL3A1	c.859A>G (p.Asn287Asp)	gnomAD v4
2	g.188991493A>T	CA349849877	COL3A1	c.859A>T (p.Asn287Tyr)
2	g.188991494A>C	CA349849878	COL3A1	c.860A>C (p.Asn287Thr)
2	g.188991494A>G	CA349849879	COL3A1	c.860A>G (p.Asn287Ser)
2	g.188991494A>T	CA349849880	COL3A1	c.860A>T (p.Asn287Ile)
2	g.188991495T>A	CA349849881	COL3A1	c.861T>A (p.Asn287Lys)
2	g.188991495T>C	CA430309160	COL3A1	c.861T>C (p.Asn287=)
2	g.188991495T>G	CA349849882	COL3A1	c.861T>G (p.Asn287Lys)
2	g.188991496G>A	CA349849883	COL3A1	c.862G>A (p.Gly288Ser)	ClinVar dbSNP COSMIC COSMIC
2	g.188991496G>C	CA349849885	COL3A1	c.862G>C (p.Gly288Arg)
2	g.188991496G=	CA1315396610	COL3A1	c.862G= (p.Gly288=)
2	g.188991496G>T	CA349849884	COL3A1	c.862G>T (p.Gly288Cys)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.188991497G>A	CA349849886	COL3A1	c.863G>A (p.Gly288Asp)
2	g.188991497G>C	CA349849887	COL3A1	c.863G>C (p.Gly288Ala)
2	g.188991497G>T	CA349849888	COL3A1	c.863G>T (p.Gly288Val)
2	g.188991498T>A	CA430309162	COL3A1	c.864T>A (p.Gly288=)
2	g.188991498T>C	CA430309163	COL3A1	c.864T>C (p.Gly288=)
2	g.188991498T>G	CA430309161	COL3A1	c.864T>G (p.Gly288=)
2	g.188991499C>A	CA349849889	COL3A1	c.865C>A (p.Leu289Ile)	COSMIC
2	g.188991499C>G	CA349849890	COL3A1	c.865C>G (p.Leu289Val)
2	g.188991499C>T	CA349849891	COL3A1	c.865C>T (p.Leu289Phe)
2	g.188991500T>A	CA349849892	COL3A1	c.866T>A (p.Leu289His)
2	g.188991500T>C	CA349849893	COL3A1	c.866T>C (p.Leu289Pro)
2	g.188991500T>G	CA349849894	COL3A1	c.866T>G (p.Leu289Arg)
2	g.188991501T>A	CA430309164	COL3A1	c.867T>A (p.Leu289=)
2	g.188991501T>C	CA430309166	COL3A1	c.867T>C (p.Leu289=)
2	g.188991501T>G	CA430309165	COL3A1	c.867T>G (p.Leu289=)
2	g.188991502C>A	CA349849895	COL3A1	c.868C>A (p.Pro290Thr)
2	g.188991502C=	CA1315396614	COL3A1	c.868C= (p.Pro290=)
2	g.188991502C>G	CA349849896	COL3A1	c.868C>G (p.Pro290Ala)
2	g.188991502C>T	CA349849897	COL3A1	c.868C>T (p.Pro290Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.188991503C>A	CA349849900	COL3A1	c.869C>A (p.Pro290Gln)	gnomAD v4
2	g.188991503C=	CA1315396615	COL3A1	c.869C= (p.Pro290=)
2	g.188991503C>G	CA349849898	COL3A1	c.869C>G (p.Pro290Arg)
2	g.188991503C>T	CA349849899	COL3A1	c.869C>T (p.Pro290Leu)	ClinVar dbSNP gnomAD v4
2	g.188991504A>C	CA430309167	COL3A1	c.870A>C (p.Pro290=)
2	g.188991504A>G	CA430309168	COL3A1	c.870A>G (p.Pro290=)	gnomAD v4
2	g.188991504A>T	CA430309169	COL3A1	c.870A>T (p.Pro290=)
2	g.188991505G>A	CA349849901	COL3A1	c.871G>A (p.Gly291Ser)
2	g.188991505G>C	CA349849902	COL3A1	c.871G>C (p.Gly291Arg)
2	g.188991505G>T	CA349849903	COL3A1	c.871G>T (p.Gly291Cys)
2	g.188991506G>A	CA349849904	COL3A1	c.872G>A (p.Gly291Asp)
2	g.188991506G>C	CA349849905	COL3A1	c.872G>C (p.Gly291Ala)
2	g.188991506G>T	CA349849906	COL3A1	c.872G>T (p.Gly291Val)
2	g.188991507C>A	CA430309170	COL3A1	c.873C>A (p.Gly291=)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.188991507C=	CA1315396621	COL3A1	c.873C= (p.Gly291=)
2	g.188991507C>G	CA077015	COL3A1	c.873C>G (p.Gly291=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991507C>T	CA077017	COL3A1	c.873C>T (p.Gly291=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991508G>A	CA077019	COL3A1	c.874G>A (p.Glu292Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991508G>C	CA349849907	COL3A1	c.874G>C (p.Glu292Gln)	dbSNP gnomAD v2
2	g.188991508G=	CA1315396629	COL3A1	c.874G= (p.Glu292=)
2	g.188991508G>T	CA349849908	COL3A1	c.874G>T (p.Glu292Ter)
2	g.188991509A>C	CA349849911	COL3A1	c.875A>C (p.Glu292Ala)
2	g.188991509A>G	CA349849910	COL3A1	c.875A>G (p.Glu292Gly)
2	g.188991509A>T	CA349849909	COL3A1	c.875A>T (p.Glu292Val)
2	g.188991510A=	CA1315396630	COL3A1	c.876A= (p.Glu292=)
2	g.188991510A>C	CA349849912	COL3A1	c.876A>C (p.Glu292Asp)
2	g.188991510A>G	CA430309171	COL3A1	c.876A>G (p.Glu292=)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.188991510A>T	CA349849913	COL3A1	c.876A>T (p.Glu292Asp)
2	g.188991511A=	CA1315396631	COL3A1	c.877A= (p.Asn293=)
2	g.188991511A>C	CA349849914	COL3A1	c.877A>C (p.Asn293His)
2	g.188991511A>G	CA349849915	COL3A1	c.877A>G (p.Asn293Asp)	ClinVar dbSNP
2	g.188991511A>T	CA349849916	COL3A1	c.877A>T (p.Asn293Tyr)
2	g.188991512A=	CA1315396633	COL3A1	c.878A= (p.Asn293=)
2	g.188991512A>C	CA349849917	COL3A1	c.878A>C (p.Asn293Thr)
2	g.188991512A>G	CA349849918	COL3A1	c.878A>G (p.Asn293Ser)	dbSNP gnomAD v2 gnomAD v4
2	g.188991512A>T	CA349849919	COL3A1	c.878A>T (p.Asn293Ile)
2	g.188991513T>A	CA349849920	COL3A1	c.879T>A (p.Asn293Lys)	ClinVar dbSNP gnomAD v4
2	g.188991513T>C	CA430309172	COL3A1	c.879T>C (p.Asn293=)
2	g.188991513T>G	CA349849921	COL3A1	c.879T>G (p.Asn293Lys)
2	g.188991513T=	CA1315396635	COL3A1	c.879T= (p.Asn293=)
2	g.188991514G>A	CA349849922	COL3A1	c.880G>A (p.Gly294Arg)	ClinVar dbSNP
2	g.188991514G>C	CA349849923	COL3A1	c.880G>C (p.Gly294Arg)
2	g.188991514G>T	CA349849924	COL3A1	c.880G>T (p.Gly294Ter)
2	g.188991515G>A	CA349849927	COL3A1	c.881G>A (p.Gly294Glu)	gnomAD v4 COSMIC
2	g.188991515G>C	CA349849925	COL3A1	c.881G>C (p.Gly294Ala)
2	g.188991515G>T	CA349849926	COL3A1	c.881G>T (p.Gly294Val)
2	g.188991516A>C	CA430309173	COL3A1	c.882A>C (p.Gly294=)
2	g.188991516A>G	CA430309174	COL3A1	c.882A>G (p.Gly294=)
2	g.188991516A>T	CA430309175	COL3A1	c.882A>T (p.Gly294=)
2	g.188991517G>A	CA349849928	COL3A1	c.883G>A (p.Ala295Thr)
2	g.188991517G>C	CA349849929	COL3A1	c.883G>C (p.Ala295Pro)	dbSNP gnomAD v4
2	g.188991517G=	CA1315396636	COL3A1	c.883G= (p.Ala295=)
2	g.188991517G>T	CA349849930	COL3A1	c.883G>T (p.Ala295Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.188991518C>A	CA349849931	COL3A1	c.884C>A (p.Ala295Asp)
2	g.188991518C=	CA1315396638	COL3A1	c.884C= (p.Ala295=)
2	g.188991518C>G	CA349849932	COL3A1	c.884C>G (p.Ala295Gly)
2	g.188991518C>T	CA62592729	COL3A1	c.884C>T (p.Ala295Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC

Number of alleles fetched