Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.188989409_188996315del	CA281702	COL3A1	c.650_1564-83del c.650_1663-83del	ClinVar
2	g.188992223_188992237del	CA2586965498	COL3A1	c.991_996+9del c.89_94+9del
2	g.188992233_188992236del	CA2586965500	COL3A1	c.996+5_996+8del c.94+5_94+8del
2	g.188992229G>A	CA007738	COL3A1	c.996+1G>A (n.996+1G>A) c.94+1G>A	ClinVar dbSNP
2	g.188992229G>C	CA349850158	COL3A1	c.996+1G>C (n.996+1G>C) c.94+1G>C
2	g.188992229G=	CA1315397390	COL3A1	c.996+1G= (n.996+1G=) c.94+1G=
2	g.188992229G>T	CA349850159	COL3A1	c.996+1G>T (n.996+1G>T) c.94+1G>T
2	g.188992229_188992230insGCCC	CA2753572060	COL3A1	c.996+1_996+2insGCCC (n.996+1_996+2insGCCC) c.94+1_94+2insGCCC
2	g.188992230T>A	CA007746	COL3A1	c.996+2T>A (n.996+2T>A) c.94+2T>A	ClinVar dbSNP
2	g.188992230T>C	CA349850160	COL3A1	c.996+2T>C (n.996+2T>C) c.94+2T>C
2	g.188992230T>G	CA349850161	COL3A1	c.996+2T>G (n.996+2T>G) c.94+2T>G
2	g.188992230T=	CA1315397394	COL3A1	c.996+2T= (n.996+2T=) c.94+2T=
2	g.188992230_188992231insCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGGTGAAGTTGGACCTGCAGGGTCTCCTGGTTCAAATGGTGCCCCTGGACA	CA2753572061	COL3A1	c.996+2_996+3insCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGGTGAAGTTGGACCTGCAGGGTCTCCTGGTTCAAATGGTGCCCCTGGACA (n.996+2_996+3insCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGGTGAAGTTGGACCTGCAGGGTCTCCTGGTTCAAATGGTGCCCCTGGACA) c.94+2_94+3insCCTGGTCCTCCTGGAACTGCCGGATTCCCTGGATCCCCTGGTGCTAAGGGTGAAGTTGGACCTGCAGGGTCTCCTGGTTCAAATGGTGCCCCTGGACA
2	g.188992233G>A	CA645527371	COL3A1	c.996+5G>A (n.996+5G>A) c.94+5G>A	COSMIC COSMIC
2	g.188992233_188992237del	CA2586965501	COL3A1	c.996+5_996+9del (n.996+5_996+9del) c.94+5_94+9del
2	g.188992234T>A	CA538441167	COL3A1	c.996+6T>A (n.996+6T>A) c.94+6T>A	dbSNP gnomAD v2 gnomAD v4
2	g.188992234T=	CA1315397395	COL3A1	c.996+6T= (n.996+6T=) c.94+6T=
2	g.188992235A>G	CA2577185269	COL3A1	c.996+7A>G (n.996+7A>G) c.94+7A>G	gnomAD v4
2	g.188992236A>C	CA2662288054	COL3A1	c.996+8A>C (n.996+8A>C) c.94+8A>C	gnomAD v4
2	g.188992237C>A	CA538441168	COL3A1	c.996+9C>A (n.996+9C>A) c.94+9C>A	dbSNP gnomAD v2 gnomAD v4
2	g.188992237C=	CA1315397397	COL3A1	c.996+9C= (n.996+9C=) c.94+9C=
2	g.188992238T>A	CA077149	COL3A1	c.996+10T>A (n.996+10T>A) c.94+10T>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188992238T>C	CA077151	COL3A1	c.996+10T>C (n.996+10T>C) c.94+10T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188992238T=	CA1315397399	COL3A1	c.996+10T= (n.996+10T=) c.94+10T=
2	g.188992240T>C	CA538441169	COL3A1	c.996+12T>C (n.996+12T>C) c.94+12T>C	dbSNP gnomAD v2 gnomAD v4
2	g.188992240T=	CA1315397401	COL3A1	c.996+12T= (n.996+12T=) c.94+12T=
2	g.188992241C>A	CA2662288058	COL3A1	c.996+13C>A (n.996+13C>A) c.94+13C>A	gnomAD v4
2	g.188992241C=	CA1315397403	COL3A1	c.996+13C= (n.996+13C=) c.94+13C=
2	g.188992241C>G	CA538441170	COL3A1	c.996+13C>G (n.996+13C>G) c.94+13C>G	dbSNP gnomAD v2 gnomAD v4
2	g.188992241C>T	CA62593519	COL3A1	c.996+13C>T (n.996+13C>T) c.94+13C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188992243A>G	CA2662288060	COL3A1	c.996+15A>G (n.996+15A>G) c.94+15A>G	gnomAD v4
2	g.188992245C>A	CA2662288061	COL3A1	c.996+17C>A (n.996+17C>A) c.94+17C>A	gnomAD v4
2	g.188992247C>T	CA2662288062	COL3A1	c.996+19C>T (n.996+19C>T) c.94+19C>T	gnomAD v4
2	g.188992248T>G	CA2577185270	COL3A1	c.996+20T>G (n.996+20T>G) c.94+20T>G	gnomAD v4
2	g.188992249_188992250delinsTA	CA1315397404	COL3A1	c.996+21_996+22delinsTA (n.996+21_996+22delinsTA) c.94+21_94+22delinsTA
2	g.188992250del	CA077153	COL3A1	c.996+22del (n.996+22del) c.94+22del	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188992251T>A	CA1315397407	COL3A1	c.996+23T>A (n.996+23T>A) c.94+23T>A	dbSNP
2	g.188992251T>C	CA077155	COL3A1	c.996+23T>C (n.996+23T>C) c.94+23T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188992251T>G	CA2662288064	COL3A1	c.996+23T>G (n.996+23T>G) c.94+23T>G	gnomAD v4
2	g.188992251T=	CA1315397405	COL3A1	c.996+23T= (n.996+23T=) c.94+23T=
2	g.188992254G>A	CA077157	COL3A1	c.996+26G>A (n.996+26G>A) c.94+26G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188992254G=	CA1315397408	COL3A1	c.996+26G= (n.996+26G=) c.94+26G=
2	g.188992254G>T	CA2662288066	COL3A1	c.996+26G>T (n.996+26G>T) c.94+26G>T	gnomAD v4
2	g.188992255T>G	CA538441171	COL3A1	c.996+27T>G (n.996+27T>G) c.94+27T>G	dbSNP gnomAD v2 gnomAD v4
2	g.188992255T=	CA1315397409	COL3A1	c.996+27T= (n.996+27T=) c.94+27T=
2	g.188992257G>A	CA077158	COL3A1	c.996+29G>A (n.996+29G>A) c.94+29G>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188992257G=	CA1315397410	COL3A1	c.996+29G= (n.996+29G=) c.94+29G=
2	g.188992257G>T	CA538441172	COL3A1	c.996+29G>T (n.996+29G>T) c.94+29G>T	dbSNP gnomAD v2 gnomAD v4
2	g.188992258del	CA2577185271	COL3A1	c.996+30del (n.996+30del) c.94+30del
2	g.188992258T>C	CA2662288071	COL3A1	c.996+30T>C (n.996+30T>C) c.94+30T>C	gnomAD v4

Number of alleles fetched