Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.188988012G=	CA1315395531	COL3A1	c.529-69G= (n.529-69G=)
2	g.188988012G>T	CA1040403834	COL3A1	c.529-69G>T (n.529-69G>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188988013C>A	CA2577185088	COL3A1	c.529-68C>A (n.529-68C>A)	gnomAD v4
2	g.188988015T>A	CA762251574	COL3A1	c.529-66T>A (n.529-66T>A)	dbSNP gnomAD v3 gnomAD v4
2	g.188988015T=	CA1315395532	COL3A1	c.529-66T= (n.529-66T=)
2	g.188988017G>T	CA2662286272	COL3A1	c.529-64G>T (n.529-64G>T)	gnomAD v4
2	g.188988018A=	CA1315395533	COL3A1	c.529-63A= (n.529-63A=)
2	g.188988018A>C	CA2662286273	COL3A1	c.529-63A>C (n.529-63A>C)	gnomAD v4
2	g.188988018A>G	CA1040403839	COL3A1	c.529-63A>G (n.529-63A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188988020G>A	CA2753571888	COL3A1	c.529-61G>A (n.529-61G>A)
2	g.188988020G>C	CA762251575	COL3A1	c.529-61G>C (n.529-61G>C)	dbSNP
2	g.188988020G=	CA1315395534	COL3A1	c.529-61G= (n.529-61G=)
2	g.188988021C>A	CA2662286275	COL3A1	c.529-60C>A (n.529-60C>A)	gnomAD v4
2	g.188988023T>C	CA2662286277	COL3A1	c.529-58T>C (n.529-58T>C)	gnomAD v4
2	g.188988024G>A	CA1315395536	COL3A1	c.529-57G>A (n.529-57G>A)	dbSNP
2	g.188988024G=	CA1315395535	COL3A1	c.529-57G= (n.529-57G=)
2	g.188988024G>T	CA2662286278	COL3A1	c.529-57G>T (n.529-57G>T)	gnomAD v4
2	g.188988025G>A	CA2577185089	COL3A1	c.529-56G>A (n.529-56G>A)
2	g.188988026A>C	CA2662286280	COL3A1	c.529-55A>C (n.529-55A>C)	gnomAD v4
2	g.188988026A>G	CA2662286281	COL3A1	c.529-55A>G (n.529-55A>G)	gnomAD v4
2	g.188988027T>C	CA2577185090	COL3A1	c.529-54T>C (n.529-54T>C)
2	g.188988030del	CA2577185091	COL3A1	c.529-51del (n.529-51del)
2	g.188988031G>A	CA2662286283	COL3A1	c.529-50G>A (n.529-50G>A)	gnomAD v4
2	g.188988032T>C	CA430308896	COL3A1	c.529-49T>C (n.529-49T>C)	dbSNP gnomAD v2 gnomAD v4
2	g.188988032T=	CA1315395537	COL3A1	c.529-49T= (n.529-49T=)
2	g.188988033G>A	CA538440994	COL3A1	c.529-48G>A (n.529-48G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988033G=	CA1315395538	COL3A1	c.529-48G= (n.529-48G=)
2	g.188988034T>A	CA1315395539	COL3A1	c.529-47T>A (n.529-47T>A)	dbSNP
2	g.188988034T=	CA1315395540	COL3A1	c.529-47T= (n.529-47T=)
2	g.188988035A>T	CA2577185092	COL3A1	c.529-46A>T (n.529-46A>T)
2	g.188988036T>C	CA076684	COL3A1	c.529-45T>C (n.529-45T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988036T=	CA1315395541	COL3A1	c.529-45T= (n.529-45T=)
2	g.188988038T>A	CA2662286285	COL3A1	c.529-43T>A (n.529-43T>A)	gnomAD v4
2	g.188988039T>G	CA2662286286	COL3A1	c.529-42T>G (n.529-42T>G)	gnomAD v4
2	g.188988041C>A	CA2662286287	COL3A1	c.529-40C>A (n.529-40C>A)	gnomAD v4
2	g.188988041C=	CA1315395542	COL3A1	c.529-40C= (n.529-40C=)
2	g.188988041C>T	CA1315395543	COL3A1	c.529-40C>T (n.529-40C>T)	dbSNP gnomAD v4
2	g.188988042A=	CA1315395544	COL3A1	c.529-39A= (n.529-39A=)
2	g.188988042A>G	CA538440995	COL3A1	c.529-39A>G (n.529-39A>G)	dbSNP gnomAD v2 gnomAD v4
2	g.188988042A>T	CA62588067	COL3A1	c.529-39A>T (n.529-39A>T)	dbSNP gnomAD v4
2	g.188988044T>G	CA076682	COL3A1	c.529-37T>G (n.529-37T>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988044T=	CA1315395545	COL3A1	c.529-37T= (n.529-37T=)
2	g.188988045C>A	CA2577185093	COL3A1	c.529-36C>A (n.529-36C>A)	gnomAD v4
2	g.188988045C=	CA1315395546	COL3A1	c.529-36C= (n.529-36C=)
2	g.188988045C>G	CA076680	COL3A1	c.529-36C>G (n.529-36C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988045C>T	CA2662286289	COL3A1	c.529-36C>T (n.529-36C>T)	gnomAD v4
2	g.188988046A>G	CA2662286292	COL3A1	c.529-35A>G (n.529-35A>G)	gnomAD v4
2	g.188988050_188988053del	CA2662286291	COL3A1	c.529-31_529-28del (n.529-31_529-28del)	gnomAD v4
2	g.188988047T>C	CA2662286293	COL3A1	c.529-34T>C (n.529-34T>C)	gnomAD v4
2	g.188988047T>G	CA1315395548	COL3A1	c.529-34T>G (n.529-34T>G)	dbSNP gnomAD v4
2	g.188988047T=	CA1315395547	COL3A1	c.529-34T= (n.529-34T=)
2	g.188988049T>A	CA62588068	COL3A1	c.529-32T>A (n.529-32T>A)	dbSNP
2	g.188988049T>C	CA2662286294	COL3A1	c.529-32T>C (n.529-32T>C)	gnomAD v4
2	g.188988049T=	CA1315395549	COL3A1	c.529-32T= (n.529-32T=)
2	g.188988050A>T	CA2662286295	COL3A1	c.529-31A>T (n.529-31A>T)	gnomAD v4
2	g.188988054dup	CA2662286296	COL3A1	c.529-27dup (n.529-27dup)	gnomAD v4
2	g.188988054del	CA2662286297	COL3A1	c.529-27del (n.529-27del)	gnomAD v4
2	g.188988054T>C	CA2577185094	COL3A1	c.529-27T>C (n.529-27T>C)	gnomAD v4
2	g.188988055G>A	CA538440996	COL3A1	c.529-26G>A (n.529-26G>A)	dbSNP gnomAD v2 gnomAD v4
2	g.188988055G=	CA1315395550	COL3A1	c.529-26G= (n.529-26G=)
2	g.188988055G>T	CA076678	COL3A1	c.529-26G>T (n.529-26G>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988056T>C	CA2662286298	COL3A1	c.529-25T>C (n.529-25T>C)	gnomAD v4
2	g.188988057T>C	CA2662286299	COL3A1	c.529-24T>C (n.529-24T>C)	gnomAD v4
2	g.188988059T>C	CA2577185095	COL3A1	c.529-22T>C (n.529-22T>C)	gnomAD v4
2	g.188988059T>G	CA2662286300	COL3A1	c.529-22T>G (n.529-22T>G)	gnomAD v4
2	g.188988060T>G	CA1315395552	COL3A1	c.529-21T>G (n.529-21T>G)	dbSNP
2	g.188988060T=	CA1315395551	COL3A1	c.529-21T= (n.529-21T=)
2	g.188988061C>T	CA2662286302	COL3A1	c.529-20C>T (n.529-20C>T)	gnomAD v4
2	g.188988062A=	CA1315395553	COL3A1	c.529-19A= (n.529-19A=)
2	g.188988062A>C	CA076676	COL3A1	c.529-19A>C (n.529-19A>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988062A>T	CA62588151	COL3A1	c.529-19A>T (n.529-19A>T)	dbSNP gnomAD v4
2	g.188988063T>C	CA2662286307	COL3A1	c.529-18T>C (n.529-18T>C)	gnomAD v4
2	g.188988065C>A	CA2662286308	COL3A1	c.529-16C>A (n.529-16C>A)	gnomAD v4
2	g.188988068A=	CA1315395554	COL3A1	c.529-13A= (n.529-13A=)
2	g.188988068A>T	CA538440997	COL3A1	c.529-13A>T (n.529-13A>T)	dbSNP gnomAD v2
2	g.188988070T>G	CA076675	COL3A1	c.529-11T>G (n.529-11T>G)	dbSNP ExAC gnomAD v2
2	g.188988070T=	CA1315395555	COL3A1	c.529-11T= (n.529-11T=)
2	g.188988071C>A	CA2580065265	COL3A1	c.529-10C>A (n.529-10C>A)	ClinVar dbSNP gnomAD v4
2	g.188988073del	CA2662286309	COL3A1	c.529-8del (n.529-8del)	ClinVar gnomAD v4
2	g.188988073C=	CA1315395556	COL3A1	c.529-8C= (n.529-8C=)
2	g.188988073C>T	CA62588159	COL3A1	c.529-8C>T (n.529-8C>T)	ClinVar dbSNP gnomAD v4
2	g.188988074A=	CA1315395558	COL3A1	c.529-7A= (n.529-7A=)
2	g.188988074A>T	CA1315395557	COL3A1	c.529-7A>T (n.529-7A>T)	dbSNP gnomAD v4
2	g.188988075T>A	CA1315395560	COL3A1	c.529-6T>A (n.529-6T>A)	dbSNP
2	g.188988075T=	CA1315395559	COL3A1	c.529-6T= (n.529-6T=)
2	g.188988076T>C	CA538440998	COL3A1	c.529-5T>C (n.529-5T>C)	dbSNP gnomAD v2 gnomAD v4
2	g.188988076T>G	CA10612160	COL3A1	c.529-5T>G (n.529-5T>G)	ClinVar dbSNP gnomAD v4
2	g.188988076T=	CA1315395561	COL3A1	c.529-5T= (n.529-5T=)
2	g.188988077C>A	CA2662286314	COL3A1	c.529-4C>A (n.529-4C>A)	gnomAD v4
2	g.188988077C=	CA1315395562	COL3A1	c.529-4C= (n.529-4C=)
2	g.188988077C>G	CA913187962	COL3A1	c.529-4C>G (n.529-4C>G)	ClinVar dbSNP
2	g.188988079A>C	CA349848204	COL3A1	c.529-2A>C (n.529-2A>C)
2	g.188988079A>G	CA349848202	COL3A1	c.529-2A>G (n.529-2A>G)
2	g.188988079A>T	CA349848203	COL3A1	c.529-2A>T (n.529-2A>T)
2	g.188988080G>A	CA349848205	COL3A1	c.529-1G>A (n.529-1G>A)
2	g.188988080G>C	CA349848206	COL3A1	c.529-1G>C (n.529-1G>C)
2	g.188988080G>T	CA349848207	COL3A1	c.529-1G>T (n.529-1G>T)
2	g.188988081G>A	CA349848208	COL3A1	c.529G>A (p.Gly177Ser)	ClinVar
2	g.188988081G>C	CA349848209	COL3A1	c.529G>C (p.Gly177Arg)
2	g.188988081G>T	CA349848210	COL3A1	c.529G>T (p.Gly177Cys)
2	g.188988082G>A	CA349848211	COL3A1	c.530G>A (p.Gly177Asp)
2	g.188988082G>C	CA349848212	COL3A1	c.530G>C (p.Gly177Ala)	ClinVar dbSNP
2	g.188988082G>T	CA349848213	COL3A1	c.530G>T (p.Gly177Val)	ClinVar dbSNP
2	g.188988082_188988083delinsGC	CA1315395563	COL3A1	c.530_531delinsGC (p.Gly177=)
2	g.188988083C>A	CA076688	COL3A1	c.531C>A (p.Gly177=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988083C=	CA1315395564	COL3A1	c.531C= (p.Gly177=)
2	g.188988083C>G	CA430308897	COL3A1	c.531C>G (p.Gly177=)
2	g.188988083C>T	CA62588161	COL3A1	c.531C>T (p.Gly177=)	ClinVar dbSNP gnomAD v4
2	g.188988088dup	CA2573051815	COL3A1	c.536dup (p.Gly180ArgfsTer26)	ClinVar dbSNP gnomAD v4
2	g.188988088del	CA645527364	COL3A1	c.536del (p.Pro179GlnfsTer?)	ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2	g.188988084C>A	CA349848214	COL3A1	c.532C>A (p.Pro178Thr)
2	g.188988084C>G	CA349848215	COL3A1	c.532C>G (p.Pro178Ala)
2	g.188988084C>T	CA349848216	COL3A1	c.532C>T (p.Pro178Ser)	ClinVar gnomAD v4 COSMIC
2	g.188988085C>A	CA349848219	COL3A1	c.533C>A (p.Pro178His)
2	g.188988085C>G	CA349848217	COL3A1	c.533C>G (p.Pro178Arg)
2	g.188988085C>T	CA349848218	COL3A1	c.533C>T (p.Pro178Leu)	gnomAD v4
2	g.188988086C>A	CA430308898	COL3A1	c.534C>A (p.Pro178=)
2	g.188988086C>G	CA430308899	COL3A1	c.534C>G (p.Pro178=)
2	g.188988086C>T	CA430308900	COL3A1	c.534C>T (p.Pro178=)
2	g.188988087C>A	CA349848220	COL3A1	c.535C>A (p.Pro179Thr)
2	g.188988087C>G	CA349848221	COL3A1	c.535C>G (p.Pro179Ala)
2	g.188988087C>T	CA349848222	COL3A1	c.535C>T (p.Pro179Ser)	gnomAD v4
2	g.188988088C>A	CA349848223	COL3A1	c.536C>A (p.Pro179Gln)
2	g.188988088C>G	CA349848224	COL3A1	c.536C>G (p.Pro179Arg)
2	g.188988088C>T	CA349848225	COL3A1	c.536C>T (p.Pro179Leu)
2	g.188988089A=	CA1315395565	COL3A1	c.537A= (p.Pro179=)
2	g.188988089A>C	CA430308901	COL3A1	c.537A>C (p.Pro179=)
2	g.188988089A>G	CA076691	COL3A1	c.537A>G (p.Pro179=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988089A>T	CA430308902	COL3A1	c.537A>T (p.Pro179=)
2	g.188988090G>A	CA349848226	COL3A1	c.538G>A (p.Gly180Ser)
2	g.188988090G>C	CA076693	COL3A1	c.538G>C (p.Gly180Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988090G=	CA1315395566	COL3A1	c.538G= (p.Gly180=)
2	g.188988090G>T	CA349848227	COL3A1	c.538G>T (p.Gly180Cys)
2	g.188988091G>A	CA006917	COL3A1	c.539G>A (p.Gly180Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988091G>C	CA349848228	COL3A1	c.539G>C (p.Gly180Ala)
2	g.188988091G=	CA1315395567	COL3A1	c.539G= (p.Gly180=)
2	g.188988091G>T	CA349848229	COL3A1	c.539G>T (p.Gly180Val)
2	g.188988092C>A	CA430308903	COL3A1	c.540C>A (p.Gly180=)	ClinVar dbSNP gnomAD v4
2	g.188988092C=	CA1315395568	COL3A1	c.540C= (p.Gly180=)
2	g.188988092C>G	CA430308905	COL3A1	c.540C>G (p.Gly180=)
2	g.188988092C>T	CA430308904	COL3A1	c.540C>T (p.Gly180=)
2	g.188988093C>A	CA349848232	COL3A1	c.541C>A (p.Pro181Thr)
2	g.188988093C>G	CA349848231	COL3A1	c.541C>G (p.Pro181Ala)
2	g.188988093C>T	CA349848230	COL3A1	c.541C>T (p.Pro181Ser)
2	g.188988094C>A	CA349848233	COL3A1	c.542C>A (p.Pro181His)
2	g.188988094C=	CA1315395569	COL3A1	c.542C= (p.Pro181=)
2	g.188988094C>G	CA349848234	COL3A1	c.542C>G (p.Pro181Arg)
2	g.188988094C>T	CA076697	COL3A1	c.542C>T (p.Pro181Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988095T>A	CA430308906	COL3A1	c.543T>A (p.Pro181=)
2	g.188988095T>C	CA430308907	COL3A1	c.543T>C (p.Pro181=)	gnomAD v4
2	g.188988095T>G	CA430308908	COL3A1	c.543T>G (p.Pro181=)
2	g.188988096C>A	CA349848235	COL3A1	c.544C>A (p.Pro182Thr)
2	g.188988096C>G	CA349848236	COL3A1	c.544C>G (p.Pro182Ala)
2	g.188988096C>T	CA349848237	COL3A1	c.544C>T (p.Pro182Ser)
2	g.188988097C>A	CA349848238	COL3A1	c.545C>A (p.Pro182His)
2	g.188988097C>G	CA349848239	COL3A1	c.545C>G (p.Pro182Arg)
2	g.188988097C>T	CA349848240	COL3A1	c.545C>T (p.Pro182Leu)	COSMIC COSMIC
2	g.188988098C>A	CA62588192	COL3A1	c.546C>A (p.Pro182=)	ClinVar dbSNP gnomAD v4
2	g.188988098C=	CA1315395570	COL3A1	c.546C= (p.Pro182=)
2	g.188988098C>G	CA430308909	COL3A1	c.546C>G (p.Pro182=)
2	g.188988098C>T	CA076699	COL3A1	c.546C>T (p.Pro182=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.188988099G>A	CA006927	COL3A1	c.547G>A (p.Gly183Ser)	ClinVar dbSNP
2	g.188988099G>C	CA006935	COL3A1	c.547G>C (p.Gly183Arg)	ClinVar dbSNP
2	g.188988099G=	CA1315395571	COL3A1	c.547G= (p.Gly183=)
2	g.188988099G>T	CA006945	COL3A1	c.547G>T (p.Gly183Cys)	ClinVar dbSNP COSMIC COSMIC
2	g.188988100del	CA2662286338	COL3A1	c.548del (p.Gly183ValfsTer?)	gnomAD v4
2	g.188988100G>A	CA006956	COL3A1	c.548G>A (p.Gly183Asp)	ClinVar dbSNP
2	g.188988100G>C	CA006965	COL3A1	c.548G>C (p.Gly183Ala)	ClinVar dbSNP
2	g.188988100G=	CA1315395572	COL3A1	c.548G= (p.Gly183=)
2	g.188988100G>T	CA349848241	COL3A1	c.548G>T (p.Gly183Val)	ClinVar dbSNP
2	g.188988101T>A	CA430308910	COL3A1	c.549T>A (p.Gly183=)
2	g.188988101T>C	CA430308911	COL3A1	c.549T>C (p.Gly183=)
2	g.188988101T>G	CA430308912	COL3A1	c.549T>G (p.Gly183=)
2	g.188988102C>A	CA349848242	COL3A1	c.550C>A (p.Pro184Thr)	ClinVar dbSNP
2	g.188988102C>G	CA349848243	COL3A1	c.550C>G (p.Pro184Ala)
2	g.188988102C>T	CA349848244	COL3A1	c.550C>T (p.Pro184Ser)	COSMIC
2	g.188988103C>A	CA349848245	COL3A1	c.551C>A (p.Pro184His)
2	g.188988103C>G	CA349848246	COL3A1	c.551C>G (p.Pro184Arg)
2	g.188988103C>T	CA349848247	COL3A1	c.551C>T (p.Pro184Leu)	gnomAD v4
2	g.188988104C>A	CA430308913	COL3A1	c.552C>A (p.Pro184=)
2	g.188988104C=	CA1315395573	COL3A1	c.552C= (p.Pro184=)
2	g.188988104C>G	CA430308914	COL3A1	c.552C>G (p.Pro184=)
2	g.188988104C>T	CA16604071	COL3A1	c.552C>T (p.Pro184=)	ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2	g.188988105C>A	CA349848248	COL3A1	c.553C>A (p.Pro185Thr)	COSMIC
2	g.188988105C=	CA1315395574	COL3A1	c.553C= (p.Pro185=)
2	g.188988105C>G	CA349848249	COL3A1	c.553C>G (p.Pro185Ala)	ClinVar dbSNP
2	g.188988105C>T	CA349848250	COL3A1	c.553C>T (p.Pro185Ser)	dbSNP
2	g.188988106C>A	CA349848251	COL3A1	c.554C>A (p.Pro185His)	gnomAD v4
2	g.188988106C=	CA1315395576	COL3A1	c.554C= (p.Pro185=)
2	g.188988106C>G	CA10587528	COL3A1	c.554C>G (p.Pro185Arg)	ClinVar dbSNP gnomAD v4
2	g.188988106C>T	CA349848252	COL3A1	c.554C>T (p.Pro185Leu)
2	g.188988106_188988107delinsCT	CA1315395575	COL3A1	c.554_555delinsCT (p.Pro185=)
2	g.188988107del	CA006973	COL3A1	c.555del (p.Gly186ValfsTer?)	ClinVar dbSNP gnomAD v4
2	g.188988107T>A	CA430308915	COL3A1	c.555T>A (p.Pro185=)
2	g.188988107T>C	CA430308916	COL3A1	c.555T>C (p.Pro185=)	ClinVar
2	g.188988107T>G	CA430308917	COL3A1	c.555T>G (p.Pro185=)
2	g.188988108G>A	CA006982	COL3A1	c.556G>A (p.Gly186Ser)	ClinVar dbSNP
2	g.188988108G>C	CA349848254	COL3A1	c.556G>C (p.Gly186Arg)
2	g.188988108G=	CA1315395577	COL3A1	c.556G= (p.Gly186=)
2	g.188988108G>T	CA349848253	COL3A1	c.556G>T (p.Gly186Cys)
2	g.188988109G>A	CA349848255	COL3A1	c.557G>A (p.Gly186Asp)	COSMIC COSMIC
2	g.188988109G>C	CA349848256	COL3A1	c.557G>C (p.Gly186Ala)
2	g.188988109G>T	CA349848257	COL3A1	c.557G>T (p.Gly186Val)
2	g.188988110T>A	CA430308918	COL3A1	c.558T>A (p.Gly186=)
2	g.188988110T>C	CA430308919	COL3A1	c.558T>C (p.Gly186=)
2	g.188988110T>G	CA430308920	COL3A1	c.558T>G (p.Gly186=)
2	g.188988111A>C	CA349848258	COL3A1	c.559A>C (p.Thr187Pro)
2	g.188988111A>G	CA349848259	COL3A1	c.559A>G (p.Thr187Ala)
2	g.188988111A>T	CA349848260	COL3A1	c.559A>T (p.Thr187Ser)
2	g.188988112C>A	CA349848261	COL3A1	c.560C>A (p.Thr187Lys)
2	g.188988112C=	CA1315395578	COL3A1	c.560C= (p.Thr187=)
2	g.188988112C>G	CA349848262	COL3A1	c.560C>G (p.Thr187Arg)
2	g.188988112C>T	CA006991	COL3A1	c.560C>T (p.Thr187Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched