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.188989409_188996315del	CA281702	COL3A1	c.650_1564-83del c.650_1663-83del	ClinVar
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)	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)

Number of alleles fetched