Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.188988189_188990680delinsTATGCAAAATCAAAC	CA913190219	COL3A1	c.582+55_798+320delinsTATGCAAAATCAAAC	ClinVar
2	g.188989409_188996315del	CA281702	COL3A1	c.650_1564-83del c.650_1663-83del	ClinVar
2	g.188990020G>A	CA62590105	COL3A1	c.691-76G>A (n.691-76G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990020G>C	CA2581798773	COL3A1	c.691-76G>C (n.691-76G>C)
2	g.188990020G=	CA1315396578	COL3A1	c.691-76G= (n.691-76G=)
2	g.188990020G>T	CA1315396575	COL3A1	c.691-76G>T (n.691-76G>T)	dbSNP gnomAD v4
2	g.188990022A>T	CA2662287011	COL3A1	c.691-74A>T (n.691-74A>T)	gnomAD v4
2	g.188990023A=	CA1315396579	COL3A1	c.691-73A= (n.691-73A=)
2	g.188990023A>C	CA2662287013	COL3A1	c.691-73A>C (n.691-73A>C)	gnomAD v4
2	g.188990023A>T	CA762192024	COL3A1	c.691-73A>T (n.691-73A>T)	dbSNP
2	g.188990023_188990024delinsAC	CA1315396581	COL3A1	c.691-73_691-72delinsAC (n.691-73_691-72delinsAC)
2	g.188990024C>A	CA2662287014	COL3A1	c.691-72C>A (n.691-72C>A)	gnomAD v4
2	g.188990024C>G	CA2662287015	COL3A1	c.691-72C>G (n.691-72C>G)	gnomAD v4
2	g.188990025del	CA916734453	COL3A1	c.691-71del (n.691-71del)	dbSNP
2	g.188990025C>A	CA2662287016	COL3A1	c.691-71C>A (n.691-71C>A)	gnomAD v4
2	g.188990025C>T	CA2662287017	COL3A1	c.691-71C>T (n.691-71C>T)	gnomAD v4
2	g.188990026A>G	CA2662287018	COL3A1	c.691-70A>G (n.691-70A>G)	gnomAD v4
2	g.188990030dup	CA2753571989	COL3A1	c.691-66dup (n.691-66dup)
2	g.188990028T>C	CA2662287019	COL3A1	c.691-68T>C (n.691-68T>C)	gnomAD v4
2	g.188990028T>G	CA1040404848	COL3A1	c.691-68T>G (n.691-68T>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188990028T=	CA1315396583	COL3A1	c.691-68T= (n.691-68T=)
2	g.188990029T>C	CA62590110	COL3A1	c.691-67T>C (n.691-67T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990029T=	CA1315396585	COL3A1	c.691-67T= (n.691-67T=)
2	g.188990030T>C	CA2662287020	COL3A1	c.691-66T>C (n.691-66T>C)	gnomAD v4
2	g.188990031G>C	CA62590111	COL3A1	c.691-65G>C (n.691-65G>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188990031G=	CA1315396586	COL3A1	c.691-65G= (n.691-65G=)
2	g.188990032C>A	CA2662287021	COL3A1	c.691-64C>A (n.691-64C>A)	gnomAD v4
2	g.188990032C>T	CA2662287022	COL3A1	c.691-64C>T (n.691-64C>T)	gnomAD v4
2	g.188990034T>C	CA62590112	COL3A1	c.691-62T>C (n.691-62T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188990034T>G	CA2662287023	COL3A1	c.691-62T>G (n.691-62T>G)	gnomAD v4
2	g.188990034T=	CA1315396588	COL3A1	c.691-62T= (n.691-62T=)
2	g.188990035A>G	CA2662287024	COL3A1	c.691-61A>G (n.691-61A>G)	gnomAD v4
2	g.188990036T>A	CA2662287025	COL3A1	c.691-60T>A (n.691-60T>A)	gnomAD v4
2	g.188990039G>C	CA2662287026	COL3A1	c.691-57G>C (n.691-57G>C)	gnomAD v4
2	g.188990040C>A	CA2662287027	COL3A1	c.691-56C>A (n.691-56C>A)	gnomAD v4
2	g.188990041T>C	CA1315396591	COL3A1	c.691-55T>C (n.691-55T>C)	dbSNP gnomAD v4
2	g.188990041T>G	CA2753571990	COL3A1	c.691-55T>G (n.691-55T>G)
2	g.188990041T=	CA1315396590	COL3A1	c.691-55T= (n.691-55T=)
2	g.188990042A>T	CA2662287028	COL3A1	c.691-54A>T (n.691-54A>T)	gnomAD v4
2	g.188990043C>A	CA62590113	COL3A1	c.691-53C>A (n.691-53C>A)	dbSNP gnomAD v4
2	g.188990043C=	CA1315396592	COL3A1	c.691-53C= (n.691-53C=)
2	g.188990044A=	CA1315396595	COL3A1	c.691-52A= (n.691-52A=)
2	g.188990044A>C	CA1315396594	COL3A1	c.691-52A>C (n.691-52A>C)	dbSNP gnomAD v4
2	g.188990044A>G	CA2662287029	COL3A1	c.691-52A>G (n.691-52A>G)	gnomAD v4
2	g.188990045del	CA2662287030	COL3A1	c.691-51del (n.691-51del)	gnomAD v4
2	g.188990045A=	CA1315396596	COL3A1	c.691-51A= (n.691-51A=)
2	g.188990045A>G	CA076815	COL3A1	c.691-51A>G (n.691-51A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188990046T>A	CA076813	COL3A1	c.691-50T>A (n.691-50T>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990046T>C	CA2565199494	COL3A1	c.691-50T>C (n.691-50T>C)
2	g.188990046T=	CA1315396597	COL3A1	c.691-50T= (n.691-50T=)
2	g.188990047G=	CA1315396598	COL3A1	c.691-49G= (n.691-49G=)
2	g.188990047G>T	CA538441088	COL3A1	c.691-49G>T (n.691-49G>T)	dbSNP gnomAD v2
2	g.188990048T>C	CA2662287031	COL3A1	c.691-48T>C (n.691-48T>C)	gnomAD v4
2	g.188990049A>G	CA2662287032	COL3A1	c.691-47A>G (n.691-47A>G)	gnomAD v4
2	g.188990051T>C	CA2662287033	COL3A1	c.691-45T>C (n.691-45T>C)	gnomAD v4
2	g.188990052T>G	CA2662287034	COL3A1	c.691-44T>G (n.691-44T>G)	gnomAD v4
2	g.188990053T>C	CA076812	COL3A1	c.691-43T>C (n.691-43T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990053T=	CA1315396599	COL3A1	c.691-43T= (n.691-43T=)
2	g.188990054C>A	CA2577185172	COL3A1	c.691-42C>A (n.691-42C>A)	gnomAD v4
2	g.188990054C=	CA1315396601	COL3A1	c.691-42C= (n.691-42C=)
2	g.188990054C>T	CA076810	COL3A1	c.691-42C>T (n.691-42C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188990055T>C	CA2662287035	COL3A1	c.691-41T>C (n.691-41T>C)	gnomAD v4
2	g.188990056C>A	CA2662287036	COL3A1	c.691-40C>A (n.691-40C>A)	gnomAD v4
2	g.188990056C>T	CA2701315126	COL3A1	c.691-40C>T (n.691-40C>T)	dbSNP
2	g.188990058T>C	CA2577185173	COL3A1	c.691-38T>C (n.691-38T>C)	gnomAD v4
2	g.188990059A=	CA1315396602	COL3A1	c.691-37A= (n.691-37A=)
2	g.188990059A>G	CA538441089	COL3A1	c.691-37A>G (n.691-37A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.188990060C>A	CA2662287037	COL3A1	c.691-36C>A (n.691-36C>A)	gnomAD v4
2	g.188990060C=	CA1315396603	COL3A1	c.691-36C= (n.691-36C=)
2	g.188990060C>T	CA1315396604	COL3A1	c.691-36C>T (n.691-36C>T)	dbSNP
2	g.188990061A>G	CA2577185174	COL3A1	c.691-35A>G (n.691-35A>G)	gnomAD v4
2	g.188990062T>C	CA1040404856	COL3A1	c.691-34T>C (n.691-34T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188990062T=	CA1315396606	COL3A1	c.691-34T= (n.691-34T=)
2	g.188990065G>A	CA076808	COL3A1	c.691-31G>A (n.691-31G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990065G=	CA1315396607	COL3A1	c.691-31G= (n.691-31G=)
2	g.188990066C=	CA1315396608	COL3A1	c.691-30C= (n.691-30C=)
2	g.188990066C>G	CA2662287038	COL3A1	c.691-30C>G (n.691-30C>G)	gnomAD v4
2	g.188990066C>T	CA076806	COL3A1	c.691-30C>T (n.691-30C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990068C>A	CA2701020739	COL3A1	c.691-28C>A (n.691-28C>A)	dbSNP
2	g.188990068C=	CA1315396609	COL3A1	c.691-28C= (n.691-28C=)
2	g.188990068C>G	CA2577185175	COL3A1	c.691-28C>G (n.691-28C>G)	gnomAD v4
2	g.188990068C>T	CA076805	COL3A1	c.691-28C>T (n.691-28C>T)	dbSNP ExAC gnomAD v3 gnomAD v4
2	g.188990069_188990088del	CA2580065291	COL3A1	c.691-27_691-8del (n.691-27_691-8del)	ClinVar
2	g.188990070T>A	CA647380686	COL3A1	c.691-26T>A (n.691-26T>A)	COSMIC
2	g.188990070T>C	CA1315396612	COL3A1	c.691-26T>C (n.691-26T>C)	dbSNP
2	g.188990070T>G	CA2753571993	COL3A1	c.691-26T>G (n.691-26T>G)
2	g.188990070T=	CA1315396611	COL3A1	c.691-26T= (n.691-26T=)
2	g.188990071A=	CA1315396613	COL3A1	c.691-25A= (n.691-25A=)
2	g.188990071A>T	CA762192039	COL3A1	c.691-25A>T (n.691-25A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188990072C>A	CA762192042	COL3A1	c.691-24C>A (n.691-24C>A)	dbSNP gnomAD v3 gnomAD v4
2	g.188990072C=	CA1315396616	COL3A1	c.691-24C= (n.691-24C=)
2	g.188990072C>G	CA076801	COL3A1	c.691-24C>G (n.691-24C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990072C>T	CA076803	COL3A1	c.691-24C>T (n.691-24C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990073G>A	CA076797	COL3A1	c.691-23G>A (n.691-23G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.188990073G>C	CA076799	COL3A1	c.691-23G>C (n.691-23G>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990073G=	CA1315396617	COL3A1	c.691-23G= (n.691-23G=)
2	g.188990073G>T	CA2662287039	COL3A1	c.691-23G>T (n.691-23G>T)	gnomAD v4
2	g.188990074T>C	CA2662287040	COL3A1	c.691-22T>C (n.691-22T>C)	gnomAD v4
2	g.188990075A>G	CA2662287041	COL3A1	c.691-21A>G (n.691-21A>G)	gnomAD v4
2	g.188990075A>T	CA2662287042	COL3A1	c.691-21A>T (n.691-21A>T)	gnomAD v4
2	g.188990076T>A	CA2662287043	COL3A1	c.691-20T>A (n.691-20T>A)	gnomAD v4
2	g.188990077T>C	CA2662287044	COL3A1	c.691-19T>C (n.691-19T>C)	gnomAD v4
2	g.188990078C>A	CA647380692	COL3A1	c.691-18C>A (n.691-18C>A)	COSMIC
2	g.188990078C>G	CA2662287045	COL3A1	c.691-18C>G (n.691-18C>G)	gnomAD v4
2	g.188990079T>C	CA762192045	COL3A1	c.691-17T>C (n.691-17T>C)	dbSNP gnomAD v4
2	g.188990079T=	CA1315396618	COL3A1	c.691-17T= (n.691-17T=)
2	g.188990081T>C	CA076795	COL3A1	c.691-15T>C (n.691-15T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188990081T=	CA1315396619	COL3A1	c.691-15T= (n.691-15T=)
2	g.188990083_188990098del	CA1139768232	COL3A1	c.691-13_693del
2	g.188990083T>A	CA538441090	COL3A1	c.691-13T>A (n.691-13T>A)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.188990083T>G	CA2701041186	COL3A1	c.691-13T>G (n.691-13T>G)	dbSNP
2	g.188990083T=	CA1315396620	COL3A1	c.691-13T= (n.691-13T=)
2	g.188990084T>G	CA913187966	COL3A1	c.691-12T>G (n.691-12T>G)	ClinVar dbSNP gnomAD v4
2	g.188990084T=	CA1315396622	COL3A1	c.691-12T= (n.691-12T=)
2	g.188990086C>A	CA2662287046	COL3A1	c.691-10C>A (n.691-10C>A)	gnomAD v4
2	g.188990087T>C	CA076818	COL3A1	c.691-9T>C (n.691-9T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990087T=	CA1315396623	COL3A1	c.691-9T= (n.691-9T=)
2	g.188990088C=	CA1315396624	COL3A1	c.691-8C= (n.691-8C=)
2	g.188990088C>G	CA076816	COL3A1	c.691-8C>G (n.691-8C>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990088C>T	CA1315396625	COL3A1	c.691-8C>T (n.691-8C>T)	dbSNP gnomAD v4
2	g.188990090A>C	CA2662287048	COL3A1	c.691-6A>C (n.691-6A>C)	gnomAD v4
2	g.188990091C>A	CA2586965482	COL3A1	c.691-5C>A (n.691-5C>A)	gnomAD v4
2	g.188990091C=	CA1315396626	COL3A1	c.691-5C= (n.691-5C=)
2	g.188990091C>T	CA1315396627	COL3A1	c.691-5C>T (n.691-5C>T)	dbSNP
2	g.188990092C>A	CA2662287049	COL3A1	c.691-4C>A (n.691-4C>A)	gnomAD v4
2	g.188990092C>G	CA2577185176	COL3A1	c.691-4C>G (n.691-4C>G)	ClinVar
2	g.188990094A=	CA1315396628	COL3A1	c.691-2A= (n.691-2A=)
2	g.188990094A>C	CA349848940	COL3A1	c.691-2A>C (n.691-2A>C)
2	g.188990094A>G	CA349848939	COL3A1	c.691-2A>G (n.691-2A>G)	ClinVar dbSNP
2	g.188990094A>T	CA349848937	COL3A1	c.691-2A>T (n.691-2A>T)
2	g.188990095G>A	CA349848941	COL3A1	c.691-1G>A (n.691-1G>A)	ClinVar
2	g.188990095G>C	CA349848943	COL3A1	c.691-1G>C (n.691-1G>C)
2	g.188990095G>T	CA349848944	COL3A1	c.691-1G>T (n.691-1G>T)
2	g.188990096G>A	CA349848945	COL3A1	c.691G>A (p.Gly231Arg)
2	g.188990096G>C	CA349848947	COL3A1	c.691G>C (p.Gly231Arg)
2	g.188990096G>T	CA349848949	COL3A1	c.691G>T (p.Gly231Ter)
2	g.188990097G>A	CA349848950	COL3A1	c.692G>A (p.Gly231Glu)	COSMIC COSMIC
2	g.188990097G>C	CA349848952	COL3A1	c.692G>C (p.Gly231Ala)
2	g.188990097G>T	CA349848953	COL3A1	c.692G>T (p.Gly231Val)
2	g.188990098A=	CA1315396632	COL3A1	c.693A= (p.Gly231=)
2	g.188990098A>C	CA430309032	COL3A1	c.693A>C (p.Gly231=)
2	g.188990098A>G	CA076821	COL3A1	c.693A>G (p.Gly231=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188990098A>T	CA430309033	COL3A1	c.693A>T (p.Gly231=)
2	g.188990099G>A	CA349848956	COL3A1	c.694G>A (p.Glu232Lys)
2	g.188990099G>C	CA349848958	COL3A1	c.694G>C (p.Glu232Gln)	gnomAD v4
2	g.188990099G>T	CA349848959	COL3A1	c.694G>T (p.Glu232Ter)	COSMIC COSMIC
2	g.188990100A=	CA1315396634	COL3A1	c.695A= (p.Glu232=)
2	g.188990100A>C	CA076823	COL3A1	c.695A>C (p.Glu232Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990100A>G	CA349848963	COL3A1	c.695A>G (p.Glu232Gly)
2	g.188990100A>T	CA349848961	COL3A1	c.695A>T (p.Glu232Val)
2	g.188990101A=	CA1315396637	COL3A1	c.696A= (p.Glu232=)
2	g.188990101A>C	CA349848965	COL3A1	c.696A>C (p.Glu232Asp)
2	g.188990101A>G	CA007287	COL3A1	c.696A>G (p.Glu232=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990101A>T	CA349848966	COL3A1	c.696A>T (p.Glu232Asp)
2	g.188990102T>A	CA349848968	COL3A1	c.697T>A (p.Ser233Thr)
2	g.188990102T>C	CA349848970	COL3A1	c.697T>C (p.Ser233Pro)
2	g.188990102T>G	CA349848971	COL3A1	c.697T>G (p.Ser233Ala)
2	g.188990103C>A	CA349848973	COL3A1	c.698C>A (p.Ser233Ter)
2	g.188990103C>G	CA349848975	COL3A1	c.698C>G (p.Ser233Ter)	ClinVar dbSNP
2	g.188990103C>T	CA349848977	COL3A1	c.698C>T (p.Ser233Leu)
2	g.188990104A>C	CA430309034	COL3A1	c.699A>C (p.Ser233=)
2	g.188990104A>G	CA430309036	COL3A1	c.699A>G (p.Ser233=)	gnomAD v4
2	g.188990104A>T	CA430309035	COL3A1	c.699A>T (p.Ser233=)
2	g.188990105G>A	CA349848978	COL3A1	c.700G>A (p.Gly234Ser)
2	g.188990105G>C	CA349848980	COL3A1	c.700G>C (p.Gly234Arg)
2	g.188990105G>T	CA349848982	COL3A1	c.700G>T (p.Gly234Cys)
2	g.188990106G>A	CA007294	COL3A1	c.701G>A (p.Gly234Asp)	ClinVar dbSNP
2	g.188990106G>C	CA349848983	COL3A1	c.701G>C (p.Gly234Ala)
2	g.188990106G=	CA1315396639	COL3A1	c.701G= (p.Gly234=)
2	g.188990106G>T	CA349848985	COL3A1	c.701G>T (p.Gly234Val)
2	g.188990107T>A	CA430309037	COL3A1	c.702T>A (p.Gly234=)
2	g.188990107T>C	CA430309038	COL3A1	c.702T>C (p.Gly234=)	gnomAD v4
2	g.188990107T>G	CA430309039	COL3A1	c.702T>G (p.Gly234=)
2	g.188990108A>C	CA430309040	COL3A1	c.703A>C (p.Arg235=)
2	g.188990108A>G	CA349848988	COL3A1	c.703A>G (p.Arg235Gly)
2	g.188990108A>T	CA349848987	COL3A1	c.703A>T (p.Arg235Ter)
2	g.188990109G>A	CA349848989	COL3A1	c.704G>A (p.Arg235Lys)
2	g.188990109G>C	CA349848990	COL3A1	c.704G>C (p.Arg235Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.188990109G=	CA1315396641	COL3A1	c.704G= (p.Arg235=)
2	g.188990109G>T	CA076825	COL3A1	c.704G>T (p.Arg235Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990110A>C	CA349848992	COL3A1	c.705A>C (p.Arg235Ser)
2	g.188990110A>G	CA430309041	COL3A1	c.705A>G (p.Arg235=)
2	g.188990110A>T	CA349848994	COL3A1	c.705A>T (p.Arg235Ser)
2	g.188990111C>A	CA349848996	COL3A1	c.706C>A (p.Pro236Thr)
2	g.188990111C=	CA1315396642	COL3A1	c.706C= (p.Pro236=)
2	g.188990111C>G	CA349848997	COL3A1	c.706C>G (p.Pro236Ala)
2	g.188990111C>T	CA007305	COL3A1	c.706C>T (p.Pro236Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990112C>A	CA349848998	COL3A1	c.707C>A (p.Pro236His)
2	g.188990112C=	CA1315396644	COL3A1	c.707C= (p.Pro236=)
2	g.188990112C>G	CA349848999	COL3A1	c.707C>G (p.Pro236Arg)	ClinVar dbSNP
2	g.188990112C>T	CA349849000	COL3A1	c.707C>T (p.Pro236Leu)	ClinVar
2	g.188990113C>A	CA430309042	COL3A1	c.708C>A (p.Pro236=)
2	g.188990113C=	CA1315396646	COL3A1	c.708C= (p.Pro236=)
2	g.188990113C>G	CA076829	COL3A1	c.708C>G (p.Pro236=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188990113C>T	CA430309043	COL3A1	c.708C>T (p.Pro236=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.188990114G>A	CA007314	COL3A1	c.709G>A (p.Gly237Arg)	ClinVar dbSNP gnomAD v4
2	g.188990114G>C	CA349849002	COL3A1	c.709G>C (p.Gly237Arg)
2	g.188990114G=	CA1315396649	COL3A1	c.709G= (p.Gly237=)
2	g.188990114G>T	CA349849001	COL3A1	c.709G>T (p.Gly237Ter)
2	g.188990115G>A	CA349849003	COL3A1	c.710G>A (p.Gly237Glu)
2	g.188990115G>C	CA349849004	COL3A1	c.710G>C (p.Gly237Ala)
2	g.188990115G>T	CA349849005	COL3A1	c.710G>T (p.Gly237Val)
2	g.188990116A>C	CA430309044	COL3A1	c.711A>C (p.Gly237=)
2	g.188990116A>G	CA430309045	COL3A1	c.711A>G (p.Gly237=)	ClinVar dbSNP
2	g.188990116A>T	CA430309046	COL3A1	c.711A>T (p.Gly237=)
2	g.188990117C>A	CA430309047	COL3A1	c.712C>A (p.Arg238=)
2	g.188990117C=	CA1315396651	COL3A1	c.712C= (p.Arg238=)
2	g.188990117C>G	CA349849006	COL3A1	c.712C>G (p.Arg238Gly)
2	g.188990117C>T	CA349849007	COL3A1	c.712C>T (p.Arg238Ter)	ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2	g.188990118G>A	CA076831	COL3A1	c.713G>A (p.Arg238Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.188990118G>C	CA349849009	COL3A1	c.713G>C (p.Arg238Pro)
2	g.188990118G=	CA1315396653	COL3A1	c.713G= (p.Arg238=)
2	g.188990118G>T	CA349849008	COL3A1	c.713G>T (p.Arg238Leu)
2	g.188990119A>C	CA430309048	COL3A1	c.714A>C (p.Arg238=)
2	g.188990119A>G	CA430309049	COL3A1	c.714A>G (p.Arg238=)
2	g.188990119A>T	CA430309050	COL3A1	c.714A>T (p.Arg238=)

Number of alleles fetched