Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.188988189_188990680delinsTATGCAAAATCAAAC	CA913190219	COL3A1	c.582+55_798+320delinsTATGCAAAATCAAAC	ClinVar
2	g.188989409_188996315del	CA281702	COL3A1	c.650_1564-83del c.650_1663-83del	ClinVar
2	g.188990119A>C	CA430309048	COL3A1	c.714A>C (p.Arg238=)
2	g.188990119A>G	CA430309049	COL3A1	c.714A>G (p.Arg238=)
2	g.188990119A>T	CA430309050	COL3A1	c.714A>T (p.Arg238=)
2	g.188990120C>A	CA349849010	COL3A1	c.715C>A (p.Pro239Thr)	gnomAD v4
2	g.188990120C>G	CA349849011	COL3A1	c.715C>G (p.Pro239Ala)
2	g.188990120C>T	CA349849012	COL3A1	c.715C>T (p.Pro239Ser)
2	g.188990121C>A	CA349849013	COL3A1	c.716C>A (p.Pro239His)	ClinVar dbSNP
2	g.188990121C=	CA1315396656	COL3A1	c.716C= (p.Pro239=)
2	g.188990121C>G	CA349849014	COL3A1	c.716C>G (p.Pro239Arg)
2	g.188990121C>T	CA349849015	COL3A1	c.716C>T (p.Pro239Leu)
2	g.188990122T>A	CA430309051	COL3A1	c.717T>A (p.Pro239=)
2	g.188990122T>C	CA430309052	COL3A1	c.717T>C (p.Pro239=)	gnomAD v4
2	g.188990122T>G	CA430309053	COL3A1	c.717T>G (p.Pro239=)
2	g.188990123G>A	CA349849016	COL3A1	c.718G>A (p.Gly240Arg)	dbSNP gnomAD v2
2	g.188990123G>C	CA007322	COL3A1	c.718G>C (p.Gly240Arg)	ClinVar dbSNP
2	g.188990123G=	CA1315396659	COL3A1	c.718G= (p.Gly240=)
2	g.188990123G>T	CA349849017	COL3A1	c.718G>T (p.Gly240Ter)
2	g.188990124G>A	CA349849018	COL3A1	c.719G>A (p.Gly240Glu)	COSMIC COSMIC
2	g.188990124G>C	CA349849019	COL3A1	c.719G>C (p.Gly240Ala)
2	g.188990124G>T	CA349849020	COL3A1	c.719G>T (p.Gly240Val)
2	g.188990125A>C	CA430309055	COL3A1	c.720A>C (p.Gly240=)
2	g.188990125A>G	CA430309056	COL3A1	c.720A>G (p.Gly240=)
2	g.188990125A>T	CA430309054	COL3A1	c.720A>T (p.Gly240=)
2	g.188990126G>A	CA349849021	COL3A1	c.721G>A (p.Glu241Lys)	ClinVar dbSNP
2	g.188990126G>C	CA349849022	COL3A1	c.721G>C (p.Glu241Gln)	gnomAD v4
2	g.188990126G=	CA1315396666	COL3A1	c.721G= (p.Glu241=)
2	g.188990126G>T	CA349849023	COL3A1	c.721G>T (p.Glu241Ter)
2	g.188990127A=	CA1315396668	COL3A1	c.722A= (p.Glu241=)
2	g.188990127A>C	CA349849024	COL3A1	c.722A>C (p.Glu241Ala)
2	g.188990127A>G	CA62590260	COL3A1	c.722A>G (p.Glu241Gly)	dbSNP
2	g.188990127A>T	CA349849025	COL3A1	c.722A>T (p.Glu241Val)
2	g.188990128G>A	CA430309057	COL3A1	c.723G>A (p.Glu241=)
2	g.188990128G>C	CA349849026	COL3A1	c.723G>C (p.Glu241Asp)	gnomAD v4
2	g.188990128G>T	CA349849027	COL3A1	c.723G>T (p.Glu241Asp)	ClinVar
2	g.188990129C>A	CA430309058	COL3A1	c.724C>A (p.Arg242=)
2	g.188990129C=	CA1315396672	COL3A1	c.724C= (p.Arg242=)
2	g.188990129C>G	CA349849028	COL3A1	c.724C>G (p.Arg242Gly)	ClinVar dbSNP gnomAD v4
2	g.188990129C>T	CA349849029	COL3A1	c.724C>T (p.Arg242Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990130G>A	CA076833	COL3A1	c.725G>A (p.Arg242Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990130G>C	CA349849031	COL3A1	c.725G>C (p.Arg242Pro)
2	g.188990130G=	CA1315396677	COL3A1	c.725G= (p.Arg242=)
2	g.188990130G>T	CA349849030	COL3A1	c.725G>T (p.Arg242Leu)
2	g.188990131A>C	CA430309059	COL3A1	c.726A>C (p.Arg242=)
2	g.188990131A>G	CA430309061	COL3A1	c.726A>G (p.Arg242=)
2	g.188990131A>T	CA430309060	COL3A1	c.726A>T (p.Arg242=)
2	g.188990132G>A	CA349849032	COL3A1	c.727G>A (p.Gly243Arg)
2	g.188990132G>C	CA349849034	COL3A1	c.727G>C (p.Gly243Arg)	ClinVar
2	g.188990132G>T	CA349849033	COL3A1	c.727G>T (p.Gly243Ter)
2	g.188990133G>A	CA007327	COL3A1	c.728G>A (p.Gly243Glu)	ClinVar dbSNP COSMIC COSMIC
2	g.188990133G>C	CA349849035	COL3A1	c.728G>C (p.Gly243Ala)
2	g.188990133G=	CA1315396685	COL3A1	c.728G= (p.Gly243=)
2	g.188990133G>T	CA007335	COL3A1	c.728G>T (p.Gly243Val)	ClinVar dbSNP
2	g.188990134A>C	CA430309062	COL3A1	c.729A>C (p.Gly243=)
2	g.188990134A>G	CA430309063	COL3A1	c.729A>G (p.Gly243=)	ClinVar
2	g.188990134A>T	CA430309064	COL3A1	c.729A>T (p.Gly243=)
2	g.188990135T>A	CA349849036	COL3A1	c.730T>A (p.Leu244Met)
2	g.188990135T>C	CA430309065	COL3A1	c.730T>C (p.Leu244=)
2	g.188990135T>G	CA349849037	COL3A1	c.730T>G (p.Leu244Val)
2	g.188990136T>A	CA349849038	COL3A1	c.731T>A (p.Leu244Ter)
2	g.188990136T>C	CA349849039	COL3A1	c.731T>C (p.Leu244Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990136T>G	CA349849040	COL3A1	c.731T>G (p.Leu244Trp)
2	g.188990136T=	CA1315396691	COL3A1	c.731T= (p.Leu244=)
2	g.188990137G>A	CA430309066	COL3A1	c.732G>A (p.Leu244=)	gnomAD v4
2	g.188990137G>C	CA349849041	COL3A1	c.732G>C (p.Leu244Phe)
2	g.188990137G>T	CA349849043	COL3A1	c.732G>T (p.Leu244Phe)
2	g.188990138C>A	CA349849045	COL3A1	c.733C>A (p.Pro245Thr)
2	g.188990138C>G	CA349849047	COL3A1	c.733C>G (p.Pro245Ala)
2	g.188990138C>T	CA349849048	COL3A1	c.733C>T (p.Pro245Ser)
2	g.188990139C>A	CA349849049	COL3A1	c.734C>A (p.Pro245His)
2	g.188990139C>G	CA349849050	COL3A1	c.734C>G (p.Pro245Arg)
2	g.188990139C>T	CA349849052	COL3A1	c.734C>T (p.Pro245Leu)
2	g.188990140T>A	CA430309067	COL3A1	c.735T>A (p.Pro245=)
2	g.188990140T>C	CA430309068	COL3A1	c.735T>C (p.Pro245=)
2	g.188990140T>G	CA430309069	COL3A1	c.735T>G (p.Pro245=)
2	g.188990141G>A	CA349849054	COL3A1	c.736G>A (p.Gly246Arg)
2	g.188990141G>C	CA349849057	COL3A1	c.736G>C (p.Gly246Arg)
2	g.188990141G>T	CA349849056	COL3A1	c.736G>T (p.Gly246Ter)
2	g.188990142del	CA2586965486	COL3A1	c.737del (p.Gly246AspfsTer17)
2	g.188990142G>A	CA007342	COL3A1	c.737G>A (p.Gly246Glu)	ClinVar dbSNP
2	g.188990142G>C	CA349849060	COL3A1	c.737G>C (p.Gly246Ala)
2	g.188990142G=	CA1315396695	COL3A1	c.737G= (p.Gly246=)
2	g.188990142G>T	CA349849062	COL3A1	c.737G>T (p.Gly246Val)
2	g.188990143A>C	CA430309070	COL3A1	c.738A>C (p.Gly246=)
2	g.188990143A>G	CA430309071	COL3A1	c.738A>G (p.Gly246=)
2	g.188990143A>T	CA430309072	COL3A1	c.738A>T (p.Gly246=)
2	g.188990144C>A	CA349849063	COL3A1	c.739C>A (p.Pro247Thr)	ClinVar dbSNP
2	g.188990144C=	CA1315396704	COL3A1	c.739C= (p.Pro247=)
2	g.188990144C>G	CA349849064	COL3A1	c.739C>G (p.Pro247Ala)
2	g.188990144C>T	CA349849066	COL3A1	c.739C>T (p.Pro247Ser)
2	g.188990145C>A	CA349849067	COL3A1	c.740C>A (p.Pro247His)
2	g.188990145C>G	CA349849069	COL3A1	c.740C>G (p.Pro247Arg)	gnomAD v4
2	g.188990145C>T	CA349849070	COL3A1	c.740C>T (p.Pro247Leu)	ClinVar
2	g.188990146T>A	CA430309073	COL3A1	c.741T>A (p.Pro247=)
2	g.188990146T>C	CA430309075	COL3A1	c.741T>C (p.Pro247=)
2	g.188990146T>G	CA430309074	COL3A1	c.741T>G (p.Pro247=)
2	g.188990147C>A	CA62590291	COL3A1	c.742C>A (p.Pro248Thr)	dbSNP
2	g.188990147C=	CA1315396708	COL3A1	c.742C= (p.Pro248=)
2	g.188990147C>G	CA349849074	COL3A1	c.742C>G (p.Pro248Ala)
2	g.188990147C>T	CA349849072	COL3A1	c.742C>T (p.Pro248Ser)	gnomAD v4 COSMIC
2	g.188990148C>A	CA349849076	COL3A1	c.743C>A (p.Pro248Gln)
2	g.188990148C>G	CA349849077	COL3A1	c.743C>G (p.Pro248Arg)
2	g.188990148C>T	CA349849079	COL3A1	c.743C>T (p.Pro248Leu)	ClinVar gnomAD v4 COSMIC COSMIC
2	g.188990149A=	CA1315396711	COL3A1	c.744A= (p.Pro248=)
2	g.188990149A>C	CA430309076	COL3A1	c.744A>C (p.Pro248=)
2	g.188990149A>G	CA076849	COL3A1	c.744A>G (p.Pro248=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990149A>T	CA430309077	COL3A1	c.744A>T (p.Pro248=)
2	g.188990152_188990155dup	CA2586965487	COL3A1	c.744+3_744+6dup	gnomAD v4
2	g.188990150G>A	CA349849080	COL3A1	c.744+1G>A (n.744+1G>A)
2	g.188990150G>C	CA349849082	COL3A1	c.744+1G>C (n.744+1G>C)
2	g.188990150G>T	CA349849083	COL3A1	c.744+1G>T (n.744+1G>T)
2	g.188990151T>A	CA349849084	COL3A1	c.744+2T>A (n.744+2T>A)
2	g.188990151T>C	CA349849086	COL3A1	c.744+2T>C (n.744+2T>C)
2	g.188990151T>G	CA349849088	COL3A1	c.744+2T>G (n.744+2T>G)
2	g.188990156C=	CA1315396714	COL3A1	c.744+7C= (n.744+7C=)
2	g.188990156C>G	CA62590315	COL3A1	c.744+7C>G (n.744+7C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188990159C>A	CA076835	COL3A1	c.744+10C>A (n.744+10C>A)	dbSNP ExAC gnomAD v2
2	g.188990159C=	CA1315396716	COL3A1	c.744+10C= (n.744+10C=)
2	g.188990159C>T	CA538441091	COL3A1	c.744+10C>T (n.744+10C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.188990160A=	CA1315396718	COL3A1	c.744+11A= (n.744+11A=)
2	g.188990160A>G	CA076837	COL3A1	c.744+11A>G (n.744+11A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990161G>A	CA076838	COL3A1	c.744+12G>A (n.744+12G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990161G>C	CA2577185177	COL3A1	c.744+12G>C (n.744+12G>C)
2	g.188990161G=	CA1315396720	COL3A1	c.744+12G= (n.744+12G=)
2	g.188990163A=	CA1315396722	COL3A1	c.744+14A= (n.744+14A=)
2	g.188990163A>G	CA538441092	COL3A1	c.744+14A>G (n.744+14A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990164T>C	CA076840	COL3A1	c.744+15T>C (n.744+15T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990164T=	CA1315396725	COL3A1	c.744+15T= (n.744+15T=)
2	g.188990166T>C	CA2662287064	COL3A1	c.744+17T>C (n.744+17T>C)	gnomAD v4
2	g.188990167A>G	CA2662287066	COL3A1	c.744+18A>G (n.744+18A>G)	gnomAD v4
2	g.188990169T>C	CA076842	COL3A1	c.744+20T>C (n.744+20T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188990169T=	CA1315396727	COL3A1	c.744+20T= (n.744+20T=)
2	g.188990173T>C	CA62590361	COL3A1	c.744+24T>C (n.744+24T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990173T=	CA1315396730	COL3A1	c.744+24T= (n.744+24T=)
2	g.188990176A=	CA1315396732	COL3A1	c.744+27A= (n.744+27A=)
2	g.188990176A>C	CA076843	COL3A1	c.744+27A>C (n.744+27A>C)	dbSNP ExAC
2	g.188990176A>G	CA2577185178	COL3A1	c.744+27A>G (n.744+27A>G)	gnomAD v4
2	g.188990177T>C	CA2662287069	COL3A1	c.744+28T>C (n.744+28T>C)	gnomAD v4
2	g.188990178T>C	CA2662287071	COL3A1	c.744+29T>C (n.744+29T>C)	gnomAD v4
2	g.188990179G>A	CA762192166	COL3A1	c.744+30G>A (n.744+30G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.188990179G=	CA1315396734	COL3A1	c.744+30G= (n.744+30G=)
2	g.188990183T>G	CA1040404919	COL3A1	c.744+34T>G (n.744+34T>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188990183T=	CA1315396735	COL3A1	c.744+34T= (n.744+34T=)
2	g.188990186T>C	CA538441093	COL3A1	c.744+37T>C (n.744+37T>C)	dbSNP gnomAD v2 gnomAD v4
2	g.188990186T=	CA1315396737	COL3A1	c.744+37T= (n.744+37T=)
2	g.188990190A=	CA1315396738	COL3A1	c.744+41A= (n.744+41A=)
2	g.188990190A>G	CA076845	COL3A1	c.744+41A>G (n.744+41A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990191G>A	CA1315396741	COL3A1	c.744+42G>A (n.744+42G>A)	dbSNP gnomAD v4
2	g.188990191G=	CA1315396740	COL3A1	c.744+42G= (n.744+42G=)
2	g.188990192C>A	CA2662287075	COL3A1	c.744+43C>A (n.744+43C>A)	gnomAD v4
2	g.188990193T>G	CA538441094	COL3A1	c.744+44T>G (n.744+44T>G)	dbSNP gnomAD v2 gnomAD v4
2	g.188990193T=	CA1315396742	COL3A1	c.744+44T= (n.744+44T=)
2	g.188990195G>A	CA2662287076	COL3A1	c.744+46G>A (n.744+46G>A)	gnomAD v4
2	g.188990195G>C	CA2701315181	COL3A1	c.744+46G>C (n.744+46G>C)	dbSNP
2	g.188990196A=	CA1315396744	COL3A1	c.744+47A= (n.744+47A=)
2	g.188990196A>C	CA2662287078	COL3A1	c.744+47A>C (n.744+47A>C)	gnomAD v4
2	g.188990196A>G	CA076847	COL3A1	c.744+47A>G (n.744+47A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990197A>G	CA2662287079	COL3A1	c.744+48A>G (n.744+48A>G)	gnomAD v4
2	g.188990200C>A	CA2662287083	COL3A1	c.744+51C>A (n.744+51C>A)	gnomAD v4
2	g.188990200C>G	CA2662287084	COL3A1	c.744+51C>G (n.744+51C>G)	gnomAD v4
2	g.188990200C>T	CA2577185179	COL3A1	c.744+51C>T (n.744+51C>T)
2	g.188990202A=	CA1315396745	COL3A1	c.744+53A= (n.744+53A=)
2	g.188990202A>G	CA62590370	COL3A1	c.744+53A>G (n.744+53A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188990203T>C	CA2662287086	COL3A1	c.744+54T>C (n.744+54T>C)	gnomAD v4
2	g.188990205A>G	CA2662287088	COL3A1	c.744+56A>G (n.744+56A>G)	gnomAD v4
2	g.188990206T>C	CA2662287089	COL3A1	c.744+57T>C (n.744+57T>C)	gnomAD v4
2	g.188990207G=	CA1315396746	COL3A1	c.744+58G= (n.744+58G=)
2	g.188990207G>T	CA62590371	COL3A1	c.744+58G>T (n.744+58G>T)	dbSNP
2	g.188990208T>G	CA2662287090	COL3A1	c.744+59T>G (n.744+59T>G)	gnomAD v4
2	g.188990210dup	CA2662287092	COL3A1	c.744+61dup (n.744+61dup)	gnomAD v4
2	g.188990210A=	CA1315396747	COL3A1	c.744+61A= (n.744+61A=)
2	g.188990210A>T	CA762192171	COL3A1	c.744+61A>T (n.744+61A>T)	dbSNP gnomAD v4
2	g.188990212T>G	CA1315396749	COL3A1	c.744+63T>G (n.744+63T>G)	dbSNP gnomAD v4
2	g.188990212T=	CA1315396748	COL3A1	c.744+63T= (n.744+63T=)
2	g.188990213C>A	CA2662287100	COL3A1	c.744+64C>A (n.744+64C>A)	gnomAD v4
2	g.188990214A>C	CA2577185180	COL3A1	c.744+65A>C (n.744+65A>C)
2	g.188990215A=	CA1315396750	COL3A1	c.744+66A= (n.744+66A=)
2	g.188990215A>G	CA538441095	COL3A1	c.744+66A>G (n.744+66A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990215A>T	CA2662287101	COL3A1	c.744+66A>T (n.744+66A>T)	gnomAD v4
2	g.188990216T>C	CA2662287103	COL3A1	c.744+67T>C (n.744+67T>C)	gnomAD v4
2	g.188990216T>G	CA2662287104	COL3A1	c.744+67T>G (n.744+67T>G)	gnomAD v4
2	g.188990217G=	CA1315396751	COL3A1	c.744+68G= (n.744+68G=)
2	g.188990217G>T	CA62590376	COL3A1	c.744+68G>T (n.744+68G>T)	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched