Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.188988189_188990680delinsTATGCAAAATCAAAC	CA913190219	COL3A1	c.582+55_798+320delinsTATGCAAAATCAAAC	ClinVar
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)

Number of alleles fetched