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.188991502C>A	CA349849895	COL3A1	c.868C>A (p.Pro290Thr)
2	g.188991502C=	CA1315396614	COL3A1	c.868C= (p.Pro290=)
2	g.188991502C>G	CA349849896	COL3A1	c.868C>G (p.Pro290Ala)
2	g.188991502C>T	CA349849897	COL3A1	c.868C>T (p.Pro290Ser)	dbSNP gnomAD v3 gnomAD v4
2	g.188991503C>A	CA349849900	COL3A1	c.869C>A (p.Pro290Gln)	gnomAD v4
2	g.188991503C=	CA1315396615	COL3A1	c.869C= (p.Pro290=)
2	g.188991503C>G	CA349849898	COL3A1	c.869C>G (p.Pro290Arg)
2	g.188991503C>T	CA349849899	COL3A1	c.869C>T (p.Pro290Leu)	ClinVar dbSNP gnomAD v4
2	g.188991504A>C	CA430309167	COL3A1	c.870A>C (p.Pro290=)
2	g.188991504A>G	CA430309168	COL3A1	c.870A>G (p.Pro290=)	gnomAD v4
2	g.188991504A>T	CA430309169	COL3A1	c.870A>T (p.Pro290=)
2	g.188991505G>A	CA349849901	COL3A1	c.871G>A (p.Gly291Ser)
2	g.188991505G>C	CA349849902	COL3A1	c.871G>C (p.Gly291Arg)
2	g.188991505G>T	CA349849903	COL3A1	c.871G>T (p.Gly291Cys)
2	g.188991506G>A	CA349849904	COL3A1	c.872G>A (p.Gly291Asp)
2	g.188991506G>C	CA349849905	COL3A1	c.872G>C (p.Gly291Ala)
2	g.188991506G>T	CA349849906	COL3A1	c.872G>T (p.Gly291Val)
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)
2	g.188991520C>T	CA349849935	COL3A1	c.886C>T (p.Pro296Ser)	gnomAD v4
2	g.188991521C>A	CA349849936	COL3A1	c.887C>A (p.Pro296His)
2	g.188991521C>G	CA349849937	COL3A1	c.887C>G (p.Pro296Arg)
2	g.188991521C>T	CA349849938	COL3A1	c.887C>T (p.Pro296Leu)
2	g.188991522T>A	CA430309180	COL3A1	c.888T>A (p.Pro296=)
2	g.188991522T>C	CA430309181	COL3A1	c.888T>C (p.Pro296=)
2	g.188991522T>G	CA430309179	COL3A1	c.888T>G (p.Pro296=)
2	g.188991523G>A	CA349849940	COL3A1	c.889G>A (p.Gly297Arg)	ClinVar dbSNP
2	g.188991523G>C	CA349849941	COL3A1	c.889G>C (p.Gly297Arg)
2	g.188991523G=	CA1315396643	COL3A1	c.889G= (p.Gly297=)
2	g.188991523G>T	CA349849939	COL3A1	c.889G>T (p.Gly297Ter)
2	g.188991524G>A	CA349849943	COL3A1	c.890G>A (p.Gly297Glu)
2	g.188991524G>C	CA349849942	COL3A1	c.890G>C (p.Gly297Ala)	gnomAD v4
2	g.188991524G>T	CA349849944	COL3A1	c.890G>T (p.Gly297Val)
2	g.188991525A=	CA1315396645	COL3A1	c.891A= (p.Gly297=)
2	g.188991525A>C	CA077025	COL3A1	c.891A>C (p.Gly297=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991525A>G	CA430309183	COL3A1	c.891A>G (p.Gly297=)	dbSNP gnomAD v2 gnomAD v4
2	g.188991525A>T	CA430309182	COL3A1	c.891A>T (p.Gly297=)
2	g.188991526C>A	CA349849945	COL3A1	c.892C>A (p.Pro298Thr)	dbSNP
2	g.188991526C=	CA1315396647	COL3A1	c.892C= (p.Pro298=)
2	g.188991526C>G	CA349849946	COL3A1	c.892C>G (p.Pro298Ala)
2	g.188991526C>T	CA349849947	COL3A1	c.892C>T (p.Pro298Ser)	gnomAD v4 COSMIC
2	g.188991527C>A	CA349849948	COL3A1	c.893C>A (p.Pro298His)
2	g.188991527C>G	CA349849949	COL3A1	c.893C>G (p.Pro298Arg)
2	g.188991527C>T	CA349849950	COL3A1	c.893C>T (p.Pro298Leu)
2	g.188991528C>A	CA430309184	COL3A1	c.894C>A (p.Pro298=)
2	g.188991528C>G	CA430309186	COL3A1	c.894C>G (p.Pro298=)
2	g.188991528C>T	CA430309185	COL3A1	c.894C>T (p.Pro298=)	gnomAD v4
2	g.188991528_188991529delinsAT	CA645527367	COL3A1	c.894_895delinsAT (p.Met299Leu)	COSMIC COSMIC
2	g.188991529A=	CA1315396648	COL3A1	c.895A= (p.Met299=)
2	g.188991529A>C	CA349849951	COL3A1	c.895A>C (p.Met299Leu)
2	g.188991529A>G	CA349849952	COL3A1	c.895A>G (p.Met299Val)	ClinVar gnomAD v4 COSMIC
2	g.188991529A>T	CA349849953	COL3A1	c.895A>T (p.Met299Leu)	dbSNP gnomAD v4
2	g.188991530T>A	CA349849954	COL3A1	c.896T>A (p.Met299Lys)
2	g.188991530T>C	CA349849955	COL3A1	c.896T>C (p.Met299Thr)	gnomAD v4
2	g.188991530T>G	CA349849956	COL3A1	c.896T>G (p.Met299Arg)
2	g.188991531G>A	CA349849957	COL3A1	c.897G>A (p.Met299Ile)
2	g.188991531G>C	CA349849959	COL3A1	c.897G>C (p.Met299Ile)
2	g.188991531G>T	CA349849958	COL3A1	c.897G>T (p.Met299Ile)
2	g.188991533_188991669del	CA2753572047	COL3A1	c.897+2_898del
2	g.188991532G>A	CA16042456	COL3A1	c.897+1G>A (n.897+1G>A)	ClinVar dbSNP
2	g.188991532G>C	CA349849960	COL3A1	c.897+1G>C (n.897+1G>C)
2	g.188991532G=	CA1315396650	COL3A1	c.897+1G= (n.897+1G=)
2	g.188991532G>T	CA349849961	COL3A1	c.897+1G>T (n.897+1G>T)
2	g.188991533T>A	CA349849962	COL3A1	c.897+2T>A (n.897+2T>A)
2	g.188991533T>C	CA349849963	COL3A1	c.897+2T>C (n.897+2T>C)
2	g.188991533T>G	CA349849964	COL3A1	c.897+2T>G (n.897+2T>G)
2	g.188991534A>G	CA2662287838	COL3A1	c.897+3A>G (n.897+3A>G)	gnomAD v4
2	g.188991535A=	CA1315396652	COL3A1	c.897+4A= (n.897+4A=)
2	g.188991535A>G	CA10587527	COL3A1	c.897+4A>G (n.897+4A>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991537T>G	CA2662287840	COL3A1	c.897+6T>G (n.897+6T>G)	gnomAD v4
2	g.188991538A>C	CA2662287841	COL3A1	c.897+7A>C (n.897+7A>C)	gnomAD v4
2	g.188991539T>C	CA2662287842	COL3A1	c.897+8T>C (n.897+8T>C)	gnomAD v4
2	g.188991541T>C	CA077027	COL3A1	c.897+10T>C (n.897+10T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991541T=	CA1315396654	COL3A1	c.897+10T= (n.897+10T=)
2	g.188991543T>A	CA2739278526	COL3A1	c.897+12T>A (n.897+12T>A)	ClinVar
2	g.188991546T>G	CA077029	COL3A1	c.897+15T>G (n.897+15T>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991546T=	CA1315396655	COL3A1	c.897+15T= (n.897+15T=)
2	g.188991547dup	CA2021741	COL3A1	c.897+16dup (n.897+16dup)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991548T>A	CA1315396658	COL3A1	c.897+17T>A (n.897+17T>A)	dbSNP
2	g.188991548T>C	CA077031	COL3A1	c.897+17T>C (n.897+17T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991548T>G	CA2662287845	COL3A1	c.897+17T>G (n.897+17T>G)	gnomAD v4
2	g.188991548T=	CA1315396657	COL3A1	c.897+17T= (n.897+17T=)
2	g.188991550T>C	CA538441143	COL3A1	c.897+19T>C (n.897+19T>C)	dbSNP gnomAD v2 gnomAD v4
2	g.188991550T=	CA1315396660	COL3A1	c.897+19T= (n.897+19T=)
2	g.188991551del	CA2739278527	COL3A1	c.897+20del (n.897+20del)	ClinVar
2	g.188991551A>G	CA2740096378	COL3A1	c.897+20A>G (n.897+20A>G)	ClinVar
2	g.188991552T>A	CA077032	COL3A1	c.897+21T>A (n.897+21T>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991552T>C	CA913089601	COL3A1	c.897+21T>C (n.897+21T>C)	gnomAD v4
2	g.188991552T=	CA1315396661	COL3A1	c.897+21T= (n.897+21T=)
2	g.188991554A>C	CA647380765	COL3A1	c.897+23A>C (n.897+23A>C)	COSMIC
2	g.188991554_188991555delinsAT	CA1315396662	COL3A1	c.897+23_897+24delinsAT (n.897+23_897+24delinsAT)
2	g.188991555T>G	CA1315396665	COL3A1	c.897+24T>G (n.897+24T>G)	dbSNP
2	g.188991555T=	CA1315396664	COL3A1	c.897+24T= (n.897+24T=)
2	g.188991558del	CA1315396663	COL3A1	c.897+27del (n.897+27del)	dbSNP
2	g.188991559C>T	CA2662287846	COL3A1	c.897+28C>T (n.897+28C>T)	gnomAD v4
2	g.188991560A=	CA1315396667	COL3A1	c.897+29A= (n.897+29A=)
2	g.188991560A>G	CA2662287847	COL3A1	c.897+29A>G (n.897+29A>G)	gnomAD v4
2	g.188991560A>T	CA62592789	COL3A1	c.897+29A>T (n.897+29A>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991561G>A	CA62592823	COL3A1	c.897+30G>A (n.897+30G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.188991561G=	CA1315396669	COL3A1	c.897+30G= (n.897+30G=)
2	g.188991563T>G	CA077034	COL3A1	c.897+32T>G (n.897+32T>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991563T=	CA1315396670	COL3A1	c.897+32T= (n.897+32T=)
2	g.188991570_188991572del	CA2577185235	COL3A1	c.897+39_897+41del (n.897+39_897+41del)
2	g.188991565T>G	CA2577185236	COL3A1	c.897+34T>G (n.897+34T>G)
2	g.188991566_188991567del	CA077037	COL3A1	c.897+35_897+36del (n.897+35_897+36del)
2	g.188991566A=	CA1315396671	COL3A1	c.897+35A= (n.897+35A=)
2	g.188991566A>G	CA2021742	COL3A1	c.897+35A>G (n.897+35A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991566A>T	CA2577185237	COL3A1	c.897+35A>T (n.897+35A>T)
2	g.188991566_188991567delinsAT	CA1315396673	COL3A1	c.897+35_897+36delinsAT (n.897+35_897+36delinsAT)
2	g.188991568del	CA2021743	COL3A1	c.897+37del (n.897+37del)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991570T>A	CA1040405440	COL3A1	c.897+39T>A (n.897+39T>A)	dbSNP gnomAD v3 gnomAD v4
2	g.188991570T>C	CA2577185238	COL3A1	c.897+39T>C (n.897+39T>C)	gnomAD v4
2	g.188991570T=	CA1315396674	COL3A1	c.897+39T= (n.897+39T=)
2	g.188991571T>A	CA1040405445	COL3A1	c.897+40T>A (n.897+40T>A)	dbSNP gnomAD v3 gnomAD v4
2	g.188991571T=	CA1315396675	COL3A1	c.897+40T= (n.897+40T=)
2	g.188991573A=	CA1315396678	COL3A1	c.897+42A= (n.897+42A=)
2	g.188991573A>T	CA1315396676	COL3A1	c.897+42A>T (n.897+42A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188991574C>A	CA077041	COL3A1	c.897+43C>A (n.897+43C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991574C=	CA1315396679	COL3A1	c.897+43C= (n.897+43C=)
2	g.188991575C=	CA1315396680	COL3A1	c.897+44C= (n.897+44C=)
2	g.188991575C>G	CA077043	COL3A1	c.897+44C>G (n.897+44C>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991575C>T	CA2662287848	COL3A1	c.897+44C>T (n.897+44C>T)	gnomAD v4
2	g.188991576T>A	CA2662287849	COL3A1	c.897+45T>A (n.897+45T>A)	gnomAD v4
2	g.188991576T>G	CA2753572048	COL3A1	c.897+45T>G (n.897+45T>G)
2	g.188991577C=	CA1315396681	COL3A1	c.897+46C= (n.897+46C=)
2	g.188991577C>T	CA1315396682	COL3A1	c.897+46C>T (n.897+46C>T)	dbSNP
2	g.188991579T>C	CA2577185239	COL3A1	c.897+48T>C (n.897+48T>C)	gnomAD v4
2	g.188991580T>C	CA2662287851	COL3A1	c.897+49T>C (n.897+49T>C)	gnomAD v4
2	g.188991581G>A	CA538441144	COL3A1	c.897+50G>A (n.897+50G>A)	dbSNP gnomAD v2 gnomAD v4
2	g.188991581G=	CA1315396683	COL3A1	c.897+50G= (n.897+50G=)
2	g.188991582T>C	CA2577185240	COL3A1	c.897+51T>C (n.897+51T>C)
2	g.188991585C=	CA1315396684	COL3A1	c.897+54C= (n.897+54C=)
2	g.188991585C>G	CA62592850	COL3A1	c.897+54C>G (n.897+54C>G)	dbSNP gnomAD v4
2	g.188991586del	CA2662287852	COL3A1	c.897+55del (n.897+55del)	gnomAD v4
2	g.188991587T>C	CA2662287853	COL3A1	c.897+56T>C (n.897+56T>C)	gnomAD v4
2	g.188991587T=	CA1315396686	COL3A1	c.897+56T= (n.897+56T=)
2	g.188991591dup	CA1315396687	COL3A1	c.897+60dup (n.897+60dup)	dbSNP
2	g.188991588_188991606del	CA2577185241	COL3A1	c.897+57_898-63del (n.897+57_898-63del)
2	g.188991591A=	CA1315396688	COL3A1	c.897+60A= (n.897+60A=)
2	g.188991591A>G	CA62592869	COL3A1	c.897+60A>G (n.897+60A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188991592C=	CA1315396689	COL3A1	c.897+61C= (n.897+61C=)
2	g.188991592C>G	CA1040405452	COL3A1	c.897+61C>G (n.897+61C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188991592C>T	CA2662287854	COL3A1	c.897+61C>T (n.897+61C>T)	gnomAD v4
2	g.188991593T>C	CA2662287855	COL3A1	c.897+62T>C (n.897+62T>C)	gnomAD v4
2	g.188991596_188991598delinsCTT	CA1315396690	COL3A1	c.897+65_897+67delinsCTT (n.897+65_897+67delinsCTT)
2	g.188991598_188991599del	CA62592874	COL3A1	c.897+67_897+68del (n.897+67_897+68del)	dbSNP gnomAD v3 gnomAD v4
2	g.188991600G>A	CA62592898	COL3A1	c.898-69G>A (n.898-69G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991600G>C	CA62592904	COL3A1	c.898-69G>C (n.898-69G>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188991600G=	CA1315396692	COL3A1	c.898-69G= (n.898-69G=)
2	g.188991601C=	CA1315396693	COL3A1	c.898-68C= (n.898-68C=)
2	g.188991601C>G	CA62592910	COL3A1	c.898-68C>G (n.898-68C>G)	dbSNP
2	g.188991601C>T	CA1315396694	COL3A1	c.898-68C>T (n.898-68C>T)	dbSNP gnomAD v4
2	g.188991602T>G	CA2541590577	COL3A1	c.898-67T>G (n.898-67T>G)

Number of alleles fetched