Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
2	g.188991519T>A	CA430309176	COL3A1	c.885T>A (p.Ala295=)
2	g.188991519T>C	CA430309177	COL3A1	c.885T>C (p.Ala295=)	ClinVar dbSNP
2	g.188991519T>G	CA430309178	COL3A1	c.885T>G (p.Ala295=)
2	g.188991519T=	CA1315396640	COL3A1	c.885T= (p.Ala295=)
2	g.188991520C>A	CA349849933	COL3A1	c.886C>A (p.Pro296Thr)
2	g.188991520C>G	CA349849934	COL3A1	c.886C>G (p.Pro296Ala)

Number of alleles fetched