Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.188988189_188990680delinsTATGCAAAATCAAAC	CA913190219	COL3A1	c.582+55_798+320delinsTATGCAAAATCAAAC	ClinVar
2	g.188988536G=	CA1315395774	COL3A1	c.583-54G= (n.583-54G=)
2	g.188988536G>T	CA1315395775	COL3A1	c.583-54G>T (n.583-54G>T)	dbSNP
2	g.188988537A>T	CA2662286460	COL3A1	c.583-53A>T (n.583-53A>T)	gnomAD v4
2	g.188988540T>C	CA076727	COL3A1	c.583-50T>C (n.583-50T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988540T=	CA1315395776	COL3A1	c.583-50T= (n.583-50T=)
2	g.188988541A=	CA1315395777	COL3A1	c.583-49A= (n.583-49A=)
2	g.188988541A>G	CA1315395778	COL3A1	c.583-49A>G (n.583-49A>G)	dbSNP gnomAD v4
2	g.188988542T>C	CA076726	COL3A1	c.583-48T>C (n.583-48T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988542T=	CA1315395779	COL3A1	c.583-48T= (n.583-48T=)
2	g.188988543A=	CA1315395780	COL3A1	c.583-47A= (n.583-47A=)
2	g.188988543A>G	CA2662286461	COL3A1	c.583-47A>G (n.583-47A>G)	gnomAD v4
2	g.188988543A>T	CA076724	COL3A1	c.583-47A>T (n.583-47A>T)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988544T>C	CA2662286462	COL3A1	c.583-46T>C (n.583-46T>C)	gnomAD v4
2	g.188988545G>A	CA2662286463	COL3A1	c.583-45G>A (n.583-45G>A)	gnomAD v4
2	g.188988549A>C	CA2662286464	COL3A1	c.583-41A>C (n.583-41A>C)	gnomAD v4
2	g.188988549A>G	CA2662286465	COL3A1	c.583-41A>G (n.583-41A>G)	gnomAD v4
2	g.188988550T>C	CA2662286466	COL3A1	c.583-40T>C (n.583-40T>C)	gnomAD v4
2	g.188988552T>C	CA2662286467	COL3A1	c.583-38T>C (n.583-38T>C)	gnomAD v4
2	g.188988552T>G	CA430308941	COL3A1	c.583-38T>G (n.583-38T>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988552T=	CA1315395781	COL3A1	c.583-38T= (n.583-38T=)
2	g.188988554G=	CA1315395782	COL3A1	c.583-36G= (n.583-36G=)
2	g.188988554G>T	CA538441014	COL3A1	c.583-36G>T (n.583-36G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988555T>C	CA2662286468	COL3A1	c.583-35T>C (n.583-35T>C)	gnomAD v4
2	g.188988556del	CA2577185126	COL3A1	c.583-34del (n.583-34del)
2	g.188988556T>A	CA2662286469	COL3A1	c.583-34T>A (n.583-34T>A)	gnomAD v4
2	g.188988556T>C	CA2662286470	COL3A1	c.583-34T>C (n.583-34T>C)	gnomAD v4
2	g.188988557del	CA2662286471	COL3A1	c.583-33del (n.583-33del)	gnomAD v4
2	g.188988557A>G	CA2662286472	COL3A1	c.583-33A>G (n.583-33A>G)	gnomAD v4
2	g.188988557A>T	CA2662286473	COL3A1	c.583-33A>T (n.583-33A>T)	gnomAD v4
2	g.188988558del	CA2577185127	COL3A1	c.583-32del (n.583-32del)
2	g.188988558C>A	CA2662286474	COL3A1	c.583-32C>A (n.583-32C>A)	gnomAD v4
2	g.188988558C>T	CA2662286475	COL3A1	c.583-32C>T (n.583-32C>T)	gnomAD v4
2	g.188988560T>C	CA538441015	COL3A1	c.583-30T>C (n.583-30T>C)	dbSNP gnomAD v2 gnomAD v4
2	g.188988560T=	CA1315395783	COL3A1	c.583-30T= (n.583-30T=)
2	g.188988561T>C	CA2662286476	COL3A1	c.583-29T>C (n.583-29T>C)	gnomAD v4
2	g.188988562A>G	CA2662286478	COL3A1	c.583-28A>G (n.583-28A>G)	gnomAD v4
2	g.188988565del	CA2662286477	COL3A1	c.583-25del (n.583-25del)	gnomAD v4
2	g.188988563A>G	CA2662286479	COL3A1	c.583-27A>G (n.583-27A>G)	gnomAD v4
2	g.188988567T>A	CA2662286480	COL3A1	c.583-23T>A (n.583-23T>A)	gnomAD v4
2	g.188988567T>C	CA2577185128	COL3A1	c.583-23T>C (n.583-23T>C)
2	g.188988568A=	CA1315395784	COL3A1	c.583-22A= (n.583-22A=)
2	g.188988568A>G	CA076722	COL3A1	c.583-22A>G (n.583-22A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988569T>C	CA538441016	COL3A1	c.583-21T>C (n.583-21T>C)	dbSNP gnomAD v2 gnomAD v4
2	g.188988569T=	CA1315395785	COL3A1	c.583-21T= (n.583-21T=)
2	g.188988570T>C	CA2662286481	COL3A1	c.583-20T>C (n.583-20T>C)	gnomAD v4
2	g.188988570T>G	CA2662286482	COL3A1	c.583-20T>G (n.583-20T>G)	gnomAD v4
2	g.188988572A=	CA1315395786	COL3A1	c.583-18A= (n.583-18A=)
2	g.188988572A>G	CA538441017	COL3A1	c.583-18A>G (n.583-18A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.188988572A>T	CA2662286483	COL3A1	c.583-18A>T (n.583-18A>T)	gnomAD v4
2	g.188988573C>A	CA2662286484	COL3A1	c.583-17C>A (n.583-17C>A)	gnomAD v4
2	g.188988573C>T	CA2662286485	COL3A1	c.583-17C>T (n.583-17C>T)	gnomAD v4
2	g.188988574A=	CA1315395787	COL3A1	c.583-16A= (n.583-16A=)
2	g.188988574A>C	CA2739278520	COL3A1	c.583-16A>C (n.583-16A>C)	ClinVar
2	g.188988574A>G	CA538441018	COL3A1	c.583-16A>G (n.583-16A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.188988574A>T	CA1315395788	COL3A1	c.583-16A>T (n.583-16A>T)	dbSNP gnomAD v4
2	g.188988575T>C	CA538441019	COL3A1	c.583-15T>C (n.583-15T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988575T=	CA1315395789	COL3A1	c.583-15T= (n.583-15T=)
2	g.188988576A=	CA1315395790	COL3A1	c.583-14A= (n.583-14A=)
2	g.188988576A>T	CA076720	COL3A1	c.583-14A>T (n.583-14A>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988578T>C	CA2662286486	COL3A1	c.583-12T>C (n.583-12T>C)	gnomAD v4
2	g.188988578T>G	CA2662286487	COL3A1	c.583-12T>G (n.583-12T>G)	gnomAD v4
2	g.188988579C>A	CA2662286488	COL3A1	c.583-11C>A (n.583-11C>A)	gnomAD v4
2	g.188988579C>T	CA2662286489	COL3A1	c.583-11C>T (n.583-11C>T)	ClinVar gnomAD v4
2	g.188988580T>C	CA2662286490	COL3A1	c.583-10T>C (n.583-10T>C)	gnomAD v4
2	g.188988581A>G	CA2662286492	COL3A1	c.583-9A>G (n.583-9A>G)	gnomAD v4
2	g.188988581A>T	CA2662286491	COL3A1	c.583-9A>T (n.583-9A>T)	gnomAD v4
2	g.188988582C>A	CA2581798770	COL3A1	c.583-8C>A (n.583-8C>A)	gnomAD v4
2	g.188988582C=	CA1315395791	COL3A1	c.583-8C= (n.583-8C=)
2	g.188988582C>G	CA2581798771	COL3A1	c.583-8C>G (n.583-8C>G)
2	g.188988582C>T	CA007081	COL3A1	c.583-8C>T (n.583-8C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988583T>C	CA10613438	COL3A1	c.583-7T>C (n.583-7T>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988583T=	CA1315395792	COL3A1	c.583-7T= (n.583-7T=)
2	g.188988584C>A	CA2662286493	COL3A1	c.583-6C>A (n.583-6C>A)	gnomAD v4
2	g.188988585A>G	CA2662286494	COL3A1	c.583-5A>G (n.583-5A>G)	gnomAD v4
2	g.188988586C>A	CA2662286495	COL3A1	c.583-4C>A (n.583-4C>A)	gnomAD v4
2	g.188988586C>G	CA2739278521	COL3A1	c.583-4C>G (n.583-4C>G)	ClinVar
2	g.188988587T>C	CA2586965477	COL3A1	c.583-3T>C (n.583-3T>C)
2	g.188988588A>C	CA349848306	COL3A1	c.583-2A>C (n.583-2A>C)
2	g.188988588A>G	CA349848307	COL3A1	c.583-2A>G (n.583-2A>G)
2	g.188988588A>T	CA349848308	COL3A1	c.583-2A>T (n.583-2A>T)
2	g.188988589G>A	CA349848309	COL3A1	c.583-1G>A (n.583-1G>A)	gnomAD v4
2	g.188988589G>C	CA349848310	COL3A1	c.583-1G>C (n.583-1G>C)
2	g.188988589G>T	CA349848311	COL3A1	c.583-1G>T (n.583-1G>T)
2	g.188988590G>A	CA62588603	COL3A1	c.583G>A (p.Gly195Arg)	ClinVar dbSNP
2	g.188988590G>C	CA007089	COL3A1	c.583G>C (p.Gly195Arg)	ClinVar dbSNP
2	g.188988590G=	CA1315395793	COL3A1	c.583G= (p.Gly195=)
2	g.188988590G>T	CA349848312	COL3A1	c.583G>T (p.Gly195Ter)
2	g.188988591G>A	CA349848313	COL3A1	c.584G>A (p.Gly195Glu)
2	g.188988591G>C	CA349848314	COL3A1	c.584G>C (p.Gly195Ala)
2	g.188988591G=	CA1315395794	COL3A1	c.584G= (p.Gly195=)
2	g.188988591G>T	CA349848315	COL3A1	c.584G>T (p.Gly195Val)	ClinVar dbSNP
2	g.188988592A=	CA1315395795	COL3A1	c.585A= (p.Gly195=)
2	g.188988592A>C	CA430308942	COL3A1	c.585A>C (p.Gly195=)
2	g.188988592A>G	CA430308943	COL3A1	c.585A>G (p.Gly195=)	gnomAD v4
2	g.188988592A>T	CA430308944	COL3A1	c.585A>T (p.Gly195=)	dbSNP
2	g.188988593T>A	CA349848317	COL3A1	c.586T>A (p.Ser196Thr)
2	g.188988593T>C	CA007097	COL3A1	c.586T>C (p.Ser196Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988593T>G	CA349848316	COL3A1	c.586T>G (p.Ser196Ala)
2	g.188988593T=	CA1315395796	COL3A1	c.586T= (p.Ser196=)
2	g.188988594C>A	CA349848318	COL3A1	c.587C>A (p.Ser196Tyr)	gnomAD v4
2	g.188988594C>G	CA349848320	COL3A1	c.587C>G (p.Ser196Cys)
2	g.188988594C>T	CA349848319	COL3A1	c.587C>T (p.Ser196Phe)
2	g.188988595T>A	CA430308945	COL3A1	c.588T>A (p.Ser196=)	gnomAD v4
2	g.188988595T>C	CA076730	COL3A1	c.588T>C (p.Ser196=)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988595T>G	CA430308946	COL3A1	c.588T>G (p.Ser196=)
2	g.188988595T=	CA1315395797	COL3A1	c.588T= (p.Ser196=)
2	g.188988596C>A	CA349848321	COL3A1	c.589C>A (p.Pro197Thr)	dbSNP gnomAD v2 gnomAD v4
2	g.188988596C=	CA1315395798	COL3A1	c.589C= (p.Pro197=)
2	g.188988596C>G	CA349848322	COL3A1	c.589C>G (p.Pro197Ala)
2	g.188988596C>T	CA349848323	COL3A1	c.589C>T (p.Pro197Ser)
2	g.188988597C>A	CA349848324	COL3A1	c.590C>A (p.Pro197Gln)	gnomAD v4
2	g.188988597C>G	CA349848325	COL3A1	c.590C>G (p.Pro197Arg)	gnomAD v4
2	g.188988597C>T	CA349848326	COL3A1	c.590C>T (p.Pro197Leu)
2	g.188988598A=	CA1315395799	COL3A1	c.591A= (p.Pro197=)
2	g.188988598A>C	CA430308947	COL3A1	c.591A>C (p.Pro197=)
2	g.188988598A>G	CA430308948	COL3A1	c.591A>G (p.Pro197=)	ClinVar dbSNP gnomAD v4
2	g.188988598A>T	CA430308949	COL3A1	c.591A>T (p.Pro197=)	dbSNP gnomAD v2 gnomAD v4
2	g.188988599G>A	CA007105	COL3A1	c.592G>A (p.Gly198Arg)	ClinVar dbSNP
2	g.188988599G>C	CA349848327	COL3A1	c.592G>C (p.Gly198Arg)
2	g.188988599G=	CA1315395800	COL3A1	c.592G= (p.Gly198=)
2	g.188988599G>T	CA349848328	COL3A1	c.592G>T (p.Gly198Ter)	gnomAD v4
2	g.188988600G>A	CA007113	COL3A1	c.593G>A (p.Gly198Glu)	ClinVar dbSNP gnomAD v4
2	g.188988600G>C	CA349848329	COL3A1	c.593G>C (p.Gly198Ala)
2	g.188988600G=	CA1315395801	COL3A1	c.593G= (p.Gly198=)
2	g.188988600G>T	CA349848330	COL3A1	c.593G>T (p.Gly198Val)
2	g.188988601A>C	CA430308950	COL3A1	c.594A>C (p.Gly198=)
2	g.188988601A>G	CA430308951	COL3A1	c.594A>G (p.Gly198=)
2	g.188988601A>T	CA430308952	COL3A1	c.594A>T (p.Gly198=)
2	g.188988602T>A	CA349848331	COL3A1	c.595T>A (p.Tyr199Asn)
2	g.188988602T>C	CA349848333	COL3A1	c.595T>C (p.Tyr199His)
2	g.188988602T>G	CA349848332	COL3A1	c.595T>G (p.Tyr199Asp)
2	g.188988603A>C	CA349848334	COL3A1	c.596A>C (p.Tyr199Ser)
2	g.188988603A>G	CA349848335	COL3A1	c.596A>G (p.Tyr199Cys)
2	g.188988603A>T	CA349848336	COL3A1	c.596A>T (p.Tyr199Phe)
2	g.188988604C>A	CA349848337	COL3A1	c.597C>A (p.Tyr199Ter)
2	g.188988604C=	CA1315395802	COL3A1	c.597C= (p.Tyr199=)
2	g.188988604C>G	CA349848338	COL3A1	c.597C>G (p.Tyr199Ter)
2	g.188988604C>T	CA430308953	COL3A1	c.597C>T (p.Tyr199=)	dbSNP gnomAD v2 gnomAD v4
2	g.188988605C>A	CA349848339	COL3A1	c.598C>A (p.Gln200Lys)	ClinVar
2	g.188988605C>G	CA349848340	COL3A1	c.598C>G (p.Gln200Glu)	gnomAD v4
2	g.188988605C>T	CA349848341	COL3A1	c.598C>T (p.Gln200Ter)
2	g.188988606A=	CA1315395803	COL3A1	c.599A= (p.Gln200=)
2	g.188988606A>C	CA076733	COL3A1	c.599A>C (p.Gln200Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988606A>G	CA349848342	COL3A1	c.599A>G (p.Gln200Arg)	dbSNP gnomAD v2 gnomAD v4
2	g.188988606A>T	CA349848343	COL3A1	c.599A>T (p.Gln200Leu)
2	g.188988607A>C	CA349848344	COL3A1	c.600A>C (p.Gln200His)
2	g.188988607A>G	CA430308954	COL3A1	c.600A>G (p.Gln200=)
2	g.188988607A>T	CA349848345	COL3A1	c.600A>T (p.Gln200His)
2	g.188988608G>A	CA349848346	COL3A1	c.601G>A (p.Gly201Arg)
2	g.188988608G>C	CA007121	COL3A1	c.601G>C (p.Gly201Arg)	ClinVar dbSNP
2	g.188988608G=	CA1315395804	COL3A1	c.601G= (p.Gly201=)
2	g.188988608G>T	CA349848347	COL3A1	c.601G>T (p.Gly201Ter)	ClinVar dbSNP
2	g.188988609G>A	CA349848348	COL3A1	c.602G>A (p.Gly201Glu)	gnomAD v4
2	g.188988609G>C	CA349848349	COL3A1	c.602G>C (p.Gly201Ala)
2	g.188988609G>T	CA349848350	COL3A1	c.602G>T (p.Gly201Val)
2	g.188988610A>C	CA430308955	COL3A1	c.603A>C (p.Gly201=)
2	g.188988610A>G	CA430308956	COL3A1	c.603A>G (p.Gly201=)
2	g.188988610A>T	CA430308957	COL3A1	c.603A>T (p.Gly201=)
2	g.188988610_188988611delinsAC	CA1315395805	COL3A1	c.603_604delinsAC (p.Gly201=)
2	g.188988611C>A	CA349848351	COL3A1	c.604C>A (p.Pro202Thr)	COSMIC COSMIC
2	g.188988611C>G	CA349848352	COL3A1	c.604C>G (p.Pro202Ala)
2	g.188988611C>T	CA349848353	COL3A1	c.604C>T (p.Pro202Ser)	gnomAD v4
2	g.188988615del	CA658657183	COL3A1	c.608del (p.Pro203LeufsTer19)	ClinVar dbSNP gnomAD v4
2	g.188988612C>A	CA349848354	COL3A1	c.605C>A (p.Pro202His)	gnomAD v4
2	g.188988612C=	CA1315395806	COL3A1	c.605C= (p.Pro202=)
2	g.188988612C>G	CA349848355	COL3A1	c.605C>G (p.Pro202Arg)
2	g.188988612C>T	CA349848356	COL3A1	c.605C>T (p.Pro202Leu)	ClinVar dbSNP
2	g.188988613C>A	CA430308958	COL3A1	c.606C>A (p.Pro202=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.188988613C=	CA1315395807	COL3A1	c.606C= (p.Pro202=)
2	g.188988613C>G	CA430308959	COL3A1	c.606C>G (p.Pro202=)	dbSNP gnomAD v2 gnomAD v4
2	g.188988613C>T	CA430308960	COL3A1	c.606C>T (p.Pro202=)
2	g.188988614C>A	CA349848359	COL3A1	c.607C>A (p.Pro203Thr)
2	g.188988614C=	CA1315395808	COL3A1	c.607C= (p.Pro203=)
2	g.188988614C>G	CA349848358	COL3A1	c.607C>G (p.Pro203Ala)	ClinVar dbSNP
2	g.188988614C>T	CA349848357	COL3A1	c.607C>T (p.Pro203Ser)	ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2	g.188988615C>A	CA349848360	COL3A1	c.608C>A (p.Pro203His)
2	g.188988615C>G	CA349848361	COL3A1	c.608C>G (p.Pro203Arg)
2	g.188988615C>T	CA349848362	COL3A1	c.608C>T (p.Pro203Leu)
2	g.188988616T>A	CA430308961	COL3A1	c.609T>A (p.Pro203=)
2	g.188988616T>C	CA076735	COL3A1	c.609T>C (p.Pro203=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988616T>G	CA430308962	COL3A1	c.609T>G (p.Pro203=)
2	g.188988616T=	CA1315395809	COL3A1	c.609T= (p.Pro203=)
2	g.188988617G>A	CA007131	COL3A1	c.610G>A (p.Gly204Ser)	ClinVar dbSNP
2	g.188988617G>C	CA349848363	COL3A1	c.610G>C (p.Gly204Arg)
2	g.188988617G=	CA1315395810	COL3A1	c.610G= (p.Gly204=)
2	g.188988617G>T	CA349848364	COL3A1	c.610G>T (p.Gly204Cys)
2	g.188988618del	CA2662286497	COL3A1	c.611del (p.Gly204ValfsTer18)	gnomAD v4
2	g.188988618G>A	CA007139	COL3A1	c.611G>A (p.Gly204Asp)	ClinVar dbSNP
2	g.188988618G>C	CA349848365	COL3A1	c.611G>C (p.Gly204Ala)
2	g.188988618G=	CA1315395811	COL3A1	c.611G= (p.Gly204=)
2	g.188988618G>T	CA349848366	COL3A1	c.611G>T (p.Gly204Val)
2	g.188988619T>A	CA430308963	COL3A1	c.612T>A (p.Gly204=)	gnomAD v4
2	g.188988619T>C	CA430308964	COL3A1	c.612T>C (p.Gly204=)
2	g.188988619T>G	CA430308965	COL3A1	c.612T>G (p.Gly204=)
2	g.188988620G>A	CA349848367	COL3A1	c.613G>A (p.Glu205Lys)
2	g.188988620G>C	CA349848368	COL3A1	c.613G>C (p.Glu205Gln)
2	g.188988620G>T	CA349848369	COL3A1	c.613G>T (p.Glu205Ter)
2	g.188988621A=	CA1315395812	COL3A1	c.614A= (p.Glu205=)
2	g.188988621A>C	CA076737	COL3A1	c.614A>C (p.Glu205Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988621A>G	CA349848371	COL3A1	c.614A>G (p.Glu205Gly)
2	g.188988621A>T	CA349848370	COL3A1	c.614A>T (p.Glu205Val)
2	g.188988622A>C	CA349848373	COL3A1	c.615A>C (p.Glu205Asp)
2	g.188988622A>G	CA430308966	COL3A1	c.615A>G (p.Glu205=)
2	g.188988622A>T	CA349848372	COL3A1	c.615A>T (p.Glu205Asp)
2	g.188988622_188988636dup	CA286268	COL3A1	c.615_629dup (p.Gly210_Pro211insProGlyGlnAlaGly)	ClinVar dbSNP
2	g.188988623C>A	CA349848374	COL3A1	c.616C>A (p.Pro206Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.188988623C=	CA1315395813	COL3A1	c.616C= (p.Pro206=)
2	g.188988623C>G	CA349848376	COL3A1	c.616C>G (p.Pro206Ala)
2	g.188988623C>T	CA349848375	COL3A1	c.616C>T (p.Pro206Ser)	ClinVar dbSNP gnomAD v4
2	g.188988624C>A	CA349848377	COL3A1	c.617C>A (p.Pro206His)	dbSNP
2	g.188988624C=	CA1315395814	COL3A1	c.617C= (p.Pro206=)
2	g.188988624C>G	CA349848379	COL3A1	c.617C>G (p.Pro206Arg)	ClinVar dbSNP gnomAD v2 COSMIC COSMIC
2	g.188988624C>T	CA349848378	COL3A1	c.617C>T (p.Pro206Leu)
2	g.188988625T>A	CA430308967	COL3A1	c.618T>A (p.Pro206=)
2	g.188988625T>C	CA430308968	COL3A1	c.618T>C (p.Pro206=)	gnomAD v4
2	g.188988625T>G	CA430308969	COL3A1	c.618T>G (p.Pro206=)
2	g.188988626G>A	CA349848380	COL3A1	c.619G>A (p.Gly207Arg)	ClinVar
2	g.188988626G>C	CA349848381	COL3A1	c.619G>C (p.Gly207Arg)
2	g.188988626G=	CA1315395815	COL3A1	c.619G= (p.Gly207=)
2	g.188988626G>T	CA349848382	COL3A1	c.619G>T (p.Gly207Trp)	ClinVar dbSNP
2	g.188988627G>A	CA349848383	COL3A1	c.620G>A (p.Gly207Glu)	COSMIC COSMIC
2	g.188988627G>C	CA349848384	COL3A1	c.620G>C (p.Gly207Ala)
2	g.188988627G=	CA1315395816	COL3A1	c.620G= (p.Gly207=)
2	g.188988627G>T	CA007150	COL3A1	c.620G>T (p.Gly207Val)	ClinVar dbSNP
2	g.188988628G>A	CA076739	COL3A1	c.621G>A (p.Gly207=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988628G>C	CA430308971	COL3A1	c.621G>C (p.Gly207=)
2	g.188988628G=	CA1315395817	COL3A1	c.621G= (p.Gly207=)
2	g.188988628G>T	CA430308970	COL3A1	c.621G>T (p.Gly207=)
2	g.188988629C>A	CA076740	COL3A1	c.622C>A (p.Gln208Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988629C=	CA1315395818	COL3A1	c.622C= (p.Gln208=)
2	g.188988629C>G	CA349848385	COL3A1	c.622C>G (p.Gln208Glu)
2	g.188988629C>T	CA349848386	COL3A1	c.622C>T (p.Gln208Ter)	ClinVar dbSNP
2	g.188988630A>C	CA349848389	COL3A1	c.623A>C (p.Gln208Pro)
2	g.188988630A>G	CA349848388	COL3A1	c.623A>G (p.Gln208Arg)
2	g.188988630A>T	CA349848387	COL3A1	c.623A>T (p.Gln208Leu)
2	g.188988631A=	CA1315395819	COL3A1	c.624A= (p.Gln208=)
2	g.188988631A>C	CA349848390	COL3A1	c.624A>C (p.Gln208His)
2	g.188988631A>G	CA076742	COL3A1	c.624A>G (p.Gln208=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988631A>T	CA349848391	COL3A1	c.624A>T (p.Gln208His)
2	g.188988632G>A	CA349848392	COL3A1	c.625G>A (p.Ala209Thr)	ClinVar dbSNP gnomAD v4
2	g.188988632G>C	CA349848393	COL3A1	c.625G>C (p.Ala209Pro)
2	g.188988632G=	CA1315395820	COL3A1	c.625G= (p.Ala209=)
2	g.188988632G>T	CA349848394	COL3A1	c.625G>T (p.Ala209Ser)
2	g.188988633C>A	CA349848395	COL3A1	c.626C>A (p.Ala209Asp)
2	g.188988633C>G	CA349848396	COL3A1	c.626C>G (p.Ala209Gly)	gnomAD v4
2	g.188988633C>T	CA349848397	COL3A1	c.626C>T (p.Ala209Val)	gnomAD v4
2	g.188988634T>A	CA430308972	COL3A1	c.627T>A (p.Ala209=)	ClinVar
2	g.188988634T>C	CA430308973	COL3A1	c.627T>C (p.Ala209=)	dbSNP
2	g.188988634T>G	CA430308974	COL3A1	c.627T>G (p.Ala209=)
2	g.188988634T=	CA1315395821	COL3A1	c.627T= (p.Ala209=)
2	g.188988635G>A	CA349848398	COL3A1	c.628G>A (p.Gly210Ser)
2	g.188988635G>C	CA349848399	COL3A1	c.628G>C (p.Gly210Arg)
2	g.188988635G>T	CA349848400	COL3A1	c.628G>T (p.Gly210Cys)
2	g.188988636G>A	CA349848401	COL3A1	c.629G>A (p.Gly210Asp)
2	g.188988636G>C	CA349848402	COL3A1	c.629G>C (p.Gly210Ala)
2	g.188988636G=	CA1315395822	COL3A1	c.629G= (p.Gly210=)
2	g.188988636G>T	CA007157	COL3A1	c.629G>T (p.Gly210Val)	ClinVar dbSNP

Number of alleles fetched