Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
2	g.188988113A=	CA1315395579	COL3A1	c.561A= (p.Thr187=)
2	g.188988113A>C	CA430308922	COL3A1	c.561A>C (p.Thr187=)	ClinVar dbSNP gnomAD v4
2	g.188988113A>G	CA076704	COL3A1	c.561A>G (p.Thr187=)	dbSNP ExAC gnomAD v2
2	g.188988113A>T	CA430308921	COL3A1	c.561A>T (p.Thr187=)
2	g.188988114T>A	CA349848263	COL3A1	c.562T>A (p.Ser188Thr)	gnomAD v4
2	g.188988114T>C	CA349848264	COL3A1	c.562T>C (p.Ser188Pro)
2	g.188988114T>G	CA349848265	COL3A1	c.562T>G (p.Ser188Ala)
2	g.188988115C>A	CA349848267	COL3A1	c.563C>A (p.Ser188Tyr)	gnomAD v4
2	g.188988115C>G	CA349848268	COL3A1	c.563C>G (p.Ser188Cys)
2	g.188988115C>T	CA349848266	COL3A1	c.563C>T (p.Ser188Phe)
2	g.188988116T>A	CA430308923	COL3A1	c.564T>A (p.Ser188=)
2	g.188988116T>C	CA430308924	COL3A1	c.564T>C (p.Ser188=)
2	g.188988116T>G	CA430308925	COL3A1	c.564T>G (p.Ser188=)
2	g.188988117G>A	CA007000	COL3A1	c.565G>A (p.Gly189Ser)	ClinVar dbSNP
2	g.188988117G>C	CA007010	COL3A1	c.565G>C (p.Gly189Arg)	ClinVar dbSNP
2	g.188988117G=	CA1315395580	COL3A1	c.565G= (p.Gly189=)
2	g.188988117G>T	CA349848269	COL3A1	c.565G>T (p.Gly189Cys)
2	g.188988118G>A	CA349848270	COL3A1	c.566G>A (p.Gly189Asp)
2	g.188988118G>C	CA349848271	COL3A1	c.566G>C (p.Gly189Ala)
2	g.188988118G>T	CA349848272	COL3A1	c.566G>T (p.Gly189Val)
2	g.188988119T>A	CA430308926	COL3A1	c.567T>A (p.Gly189=)	gnomAD v4
2	g.188988119T>C	CA62588250	COL3A1	c.567T>C (p.Gly189=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988119T>G	CA430308927	COL3A1	c.567T>G (p.Gly189=)
2	g.188988119T=	CA1315395581	COL3A1	c.567T= (p.Gly189=)
2	g.188988120C>A	CA349848273	COL3A1	c.568C>A (p.His190Asn)	gnomAD v4
2	g.188988120C>G	CA349848274	COL3A1	c.568C>G (p.His190Asp)
2	g.188988120C>T	CA349848275	COL3A1	c.568C>T (p.His190Tyr)	ClinVar COSMIC
2	g.188988121A=	CA1315395582	COL3A1	c.569A= (p.His190=)
2	g.188988121A>C	CA349848276	COL3A1	c.569A>C (p.His190Pro)	ClinVar
2	g.188988121A>G	CA076707	COL3A1	c.569A>G (p.His190Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988121A>T	CA349848277	COL3A1	c.569A>T (p.His190Leu)
2	g.188988122del	CA913187963	COL3A1	c.570del (p.Pro191LeufsTer?)	ClinVar
2	g.188988122T>A	CA349848279	COL3A1	c.570T>A (p.His190Gln)
2	g.188988122T>C	CA430308928	COL3A1	c.570T>C (p.His190=)	ClinVar dbSNP
2	g.188988122T>G	CA349848278	COL3A1	c.570T>G (p.His190Gln)
2	g.188988123C>A	CA349848280	COL3A1	c.571C>A (p.Pro191Thr)
2	g.188988123C>G	CA349848281	COL3A1	c.571C>G (p.Pro191Ala)
2	g.188988123C>T	CA349848282	COL3A1	c.571C>T (p.Pro191Ser)	gnomAD v4
2	g.188988124C>A	CA349848283	COL3A1	c.572C>A (p.Pro191His)
2	g.188988124C>G	CA349848284	COL3A1	c.572C>G (p.Pro191Arg)
2	g.188988124C>T	CA349848285	COL3A1	c.572C>T (p.Pro191Leu)
2	g.188988125T>A	CA430308929	COL3A1	c.573T>A (p.Pro191=)
2	g.188988125T>C	CA430308930	COL3A1	c.573T>C (p.Pro191=)	gnomAD v4
2	g.188988125T>G	CA430308931	COL3A1	c.573T>G (p.Pro191=)
2	g.188988126G>A	CA349848286	COL3A1	c.574G>A (p.Gly192Ser)
2	g.188988126G>C	CA349848287	COL3A1	c.574G>C (p.Gly192Arg)
2	g.188988126G=	CA1315395583	COL3A1	c.574G= (p.Gly192=)
2	g.188988126G>T	CA349848288	COL3A1	c.574G>T (p.Gly192Cys)	dbSNP
2	g.188988127G>A	CA349848289	COL3A1	c.575G>A (p.Gly192Asp)
2	g.188988127G>C	CA349848290	COL3A1	c.575G>C (p.Gly192Ala)
2	g.188988127G=	CA1315395584	COL3A1	c.575G= (p.Gly192=)
2	g.188988127G>T	CA007020	COL3A1	c.575G>T (p.Gly192Val)	ClinVar dbSNP
2	g.188988128T>A	CA430308932	COL3A1	c.576T>A (p.Gly192=)
2	g.188988128T>C	CA430308933	COL3A1	c.576T>C (p.Gly192=)	ClinVar gnomAD v4
2	g.188988128T>G	CA430308934	COL3A1	c.576T>G (p.Gly192=)
2	g.188988129T>A	CA349848293	COL3A1	c.577T>A (p.Ser193Thr)
2	g.188988129T>C	CA349848292	COL3A1	c.577T>C (p.Ser193Pro)
2	g.188988129T>G	CA349848291	COL3A1	c.577T>G (p.Ser193Ala)	gnomAD v4
2	g.188988130C>A	CA62588255	COL3A1	c.578C>A (p.Ser193Tyr)	dbSNP
2	g.188988130C=	CA1315395585	COL3A1	c.578C= (p.Ser193=)
2	g.188988130C>G	CA349848294	COL3A1	c.578C>G (p.Ser193Cys)
2	g.188988130C>T	CA076708	COL3A1	c.578C>T (p.Ser193Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.188988131C>A	CA430308935	COL3A1	c.579C>A (p.Ser193=)
2	g.188988131C>G	CA430308936	COL3A1	c.579C>G (p.Ser193=)
2	g.188988131C>T	CA430308937	COL3A1	c.579C>T (p.Ser193=)	gnomAD v4
2	g.188988132C>A	CA349848295	COL3A1	c.580C>A (p.Pro194Thr)
2	g.188988132C>G	CA349848297	COL3A1	c.580C>G (p.Pro194Ala)
2	g.188988132C>T	CA349848296	COL3A1	c.580C>T (p.Pro194Ser)
2	g.188988133C>A	CA349848298	COL3A1	c.581C>A (p.Pro194His)
2	g.188988133C>G	CA349848299	COL3A1	c.581C>G (p.Pro194Arg)	gnomAD v4
2	g.188988133C>T	CA349848300	COL3A1	c.581C>T (p.Pro194Leu)	gnomAD v4
2	g.188988134T>A	CA430308938	COL3A1	c.582T>A (p.Pro194=)
2	g.188988134T>C	CA430308940	COL3A1	c.582T>C (p.Pro194=)
2	g.188988134T>G	CA430308939	COL3A1	c.582T>G (p.Pro194=)
2	g.188988134T=	CA1315395586	COL3A1	c.582T= (p.Pro194=)
2	g.188988136_188988150del	CA2582342050	COL3A1	c.582+2_582+16del	ClinVar
2	g.188988135G>A	CA349848301	COL3A1	c.582+1G>A (n.582+1G>A)
2	g.188988135G>C	CA007027	COL3A1	c.582+1G>C (n.582+1G>C)	ClinVar dbSNP
2	g.188988135G=	CA1315395587	COL3A1	c.582+1G= (n.582+1G=)
2	g.188988135G>T	CA349848302	COL3A1	c.582+1G>T (n.582+1G>T)
2	g.188988138_188988141dup	CA1040403874	COL3A1	c.582+4_582+7dup (n.582+4_582+7dup)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.188988136T>A	CA349848303	COL3A1	c.582+2T>A (n.582+2T>A)
2	g.188988136T>C	CA349848304	COL3A1	c.582+2T>C (n.582+2T>C)	ClinVar
2	g.188988136T>G	CA349848305	COL3A1	c.582+2T>G (n.582+2T>G)
2	g.188988136dup	CA007035	COL3A1	c.582+2dup (n.582+2dup)	ClinVar dbSNP
2	g.188988136_188988137del	CA2577185096	COL3A1	c.582+2_582+3del (n.582+2_582+3del)
2	g.188988138_188988145delinsAGTATAGC	CA1315395588	COL3A1	c.582+4_582+11delinsAGTATAGC (n.582+4_582+11delinsAGTATAGC)
2	g.188988139G>A	CA007049	COL3A1	c.582+5G>A (n.582+5G>A)	ClinVar dbSNP
2	g.188988139G=	CA1315395589	COL3A1	c.582+5G= (n.582+5G=)
2	g.188988139G>T	CA007056	COL3A1	c.582+5G>T (n.582+5G>T)	ClinVar dbSNP
2	g.188988139_188988145delinsACA	CA913189389	COL3A1	c.582+5_582+11delinsACA (n.582+5_582+11delinsACA)	ClinVar dbSNP
2	g.188988140T>A	CA007064	COL3A1	c.582+6T>A (n.582+6T>A)	ClinVar dbSNP
2	g.188988140T>C	CA007073	COL3A1	c.582+6T>C (n.582+6T>C)	ClinVar dbSNP
2	g.188988140T=	CA1315395590	COL3A1	c.582+6T= (n.582+6T=)
2	g.188988140dup	CA2662286353	COL3A1	c.582+6dup (n.582+6dup)	ClinVar gnomAD v4
2	g.188988141A>G	CA2662286355	COL3A1	c.582+7A>G (n.582+7A>G)	dbSNP gnomAD v4
2	g.188988142T>C	CA2577185097	COL3A1	c.582+8T>C (n.582+8T>C)	gnomAD v4
2	g.188988144G>A	CA658796113	COL3A1	c.582+10G>A (n.582+10G>A)	ClinVar dbSNP
2	g.188988144G=	CA1315395591	COL3A1	c.582+10G= (n.582+10G=)
2	g.188988145C>A	CA2662286356	COL3A1	c.582+11C>A (n.582+11C>A)	gnomAD v4
2	g.188988145C=	CA1315395592	COL3A1	c.582+11C= (n.582+11C=)
2	g.188988145C>T	CA538440999	COL3A1	c.582+11C>T (n.582+11C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.188988146C=	CA1315395593	COL3A1	c.582+12C= (n.582+12C=)
2	g.188988146C>T	CA076711	COL3A1	c.582+12C>T (n.582+12C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988147A=	CA1315395594	COL3A1	c.582+13A= (n.582+13A=)
2	g.188988147A>G	CA62588290	COL3A1	c.582+13A>G (n.582+13A>G)	dbSNP gnomAD v4
2	g.188988148T>C	CA076713	COL3A1	c.582+14T>C (n.582+14T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988148T=	CA1315395595	COL3A1	c.582+14T= (n.582+14T=)
2	g.188988154_188988156del	CA2577185098	COL3A1	c.582+20_582+22del (n.582+20_582+22del)
2	g.188988150G>A	CA076715	COL3A1	c.582+16G>A (n.582+16G>A)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2	g.188988150G=	CA1315395596	COL3A1	c.582+16G= (n.582+16G=)
2	g.188988152T>C	CA2577185099	COL3A1	c.582+18T>C (n.582+18T>C)
2	g.188988153G>A	CA2577185100	COL3A1	c.582+19G>A (n.582+19G>A)	ClinVar gnomAD v4
2	g.188988154G>A	CA538441000	COL3A1	c.582+20G>A (n.582+20G>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988154G=	CA1315395597	COL3A1	c.582+20G= (n.582+20G=)
2	g.188988155T>C	CA2662286358	COL3A1	c.582+21T>C (n.582+21T>C)	gnomAD v4
2	g.188988157T>A	CA1315395598	COL3A1	c.582+23T>A (n.582+23T>A)	dbSNP gnomAD v4
2	g.188988157T>G	CA762251745	COL3A1	c.582+23T>G (n.582+23T>G)	dbSNP
2	g.188988157T=	CA1315395599	COL3A1	c.582+23T= (n.582+23T=)
2	g.188988158T>C	CA2662286359	COL3A1	c.582+24T>C (n.582+24T>C)	gnomAD v4
2	g.188988159T>G	CA762251746	COL3A1	c.582+25T>G (n.582+25T>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188988159T=	CA1315395600	COL3A1	c.582+25T= (n.582+25T=)
2	g.188988160T>A	CA1315395602	COL3A1	c.582+26T>A (n.582+26T>A)	dbSNP gnomAD v4
2	g.188988160T=	CA1315395601	COL3A1	c.582+26T= (n.582+26T=)
2	g.188988162T>G	CA647380657	COL3A1	c.582+28T>G (n.582+28T>G)	COSMIC
2	g.188988163T>G	CA1315395604	COL3A1	c.582+29T>G (n.582+29T>G)	dbSNP gnomAD v4
2	g.188988163T=	CA1315395603	COL3A1	c.582+29T= (n.582+29T=)
2	g.188988164_188988165insACAA	CA2753571894	COL3A1	c.582+30_582+31insACAA (n.582+30_582+31insACAA)
2	g.188988165C>A	CA2662286361	COL3A1	c.582+31C>A (n.582+31C>A)	gnomAD v4
2	g.188988165C=	CA1315395605	COL3A1	c.582+31C= (n.582+31C=)
2	g.188988165C>T	CA538441001	COL3A1	c.582+31C>T (n.582+31C>T)	dbSNP gnomAD v2 gnomAD v4
2	g.188988166T>A	CA762251750	COL3A1	c.582+32T>A (n.582+32T>A)	dbSNP gnomAD v4
2	g.188988166T>C	CA2662286364	COL3A1	c.582+32T>C (n.582+32T>C)	gnomAD v4
2	g.188988166T=	CA1315395606	COL3A1	c.582+32T= (n.582+32T=)
2	g.188988167C>A	CA2662286366	COL3A1	c.582+33C>A (n.582+33C>A)	gnomAD v4
2	g.188988167C>T	CA2662286367	COL3A1	c.582+33C>T (n.582+33C>T)	gnomAD v4
2	g.188988168A>G	CA2577185101	COL3A1	c.582+34A>G (n.582+34A>G)
2	g.188988169T>A	CA076717	COL3A1	c.582+35T>A (n.582+35T>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188988169T>G	CA1315395608	COL3A1	c.582+35T>G (n.582+35T>G)	dbSNP
2	g.188988169T=	CA1315395607	COL3A1	c.582+35T= (n.582+35T=)
2	g.188988173del	CA2577185102	COL3A1	c.582+39del (n.582+39del)	gnomAD v4
2	g.188988172T>C	CA076719	COL3A1	c.582+38T>C (n.582+38T>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988172T=	CA1315395609	COL3A1	c.582+38T= (n.582+38T=)
2	g.188988172_188988173insACA	CA2753571895	COL3A1	c.582+38_582+39insACA (n.582+38_582+39insACA)
2	g.188988175G>A	CA2662286369	COL3A1	c.582+41G>A (n.582+41G>A)	gnomAD v4
2	g.188988176A>G	CA2577185103	COL3A1	c.582+42A>G (n.582+42A>G)	gnomAD v4
2	g.188988177A=	CA1315395610	COL3A1	c.582+43A= (n.582+43A=)
2	g.188988177A>T	CA538441002	COL3A1	c.582+43A>T (n.582+43A>T)	dbSNP gnomAD v2
2	g.188988178A>G	CA2662286370	COL3A1	c.582+44A>G (n.582+44A>G)	gnomAD v4
2	g.188988181T>C	CA2662286371	COL3A1	c.582+47T>C (n.582+47T>C)	gnomAD v4
2	g.188988182C>A	CA2662286372	COL3A1	c.582+48C>A (n.582+48C>A)	gnomAD v4
2	g.188988183A>G	CA2753571896	COL3A1	c.582+49A>G (n.582+49A>G)
2	g.188988186T>A	CA1315395612	COL3A1	c.582+52T>A (n.582+52T>A)	dbSNP
2	g.188988186T=	CA1315395611	COL3A1	c.582+52T= (n.582+52T=)
2	g.188988187T>A	CA2577185104	COL3A1	c.582+53T>A (n.582+53T>A)	gnomAD v4
2	g.188988187T>C	CA1040403899	COL3A1	c.582+53T>C (n.582+53T>C)	gnomAD v3 gnomAD v4
2	g.188988189A=	CA1315395613	COL3A1	c.582+55A= (n.582+55A=)
2	g.188988189A>T	CA1315395614	COL3A1	c.582+55A>T (n.582+55A>T)	dbSNP gnomAD v4
2	g.188988189_188990680delinsTATGCAAAATCAAAC	CA913190219	COL3A1	c.582+55_798+320delinsTATGCAAAATCAAAC	ClinVar
2	g.188988190T>A	CA2577185105	COL3A1	c.582+56T>A (n.582+56T>A)
2	g.188988191A=	CA1315395615	COL3A1	c.582+57A= (n.582+57A=)
2	g.188988191A>C	CA538441003	COL3A1	c.582+57A>C (n.582+57A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988191A>G	CA762251758	COL3A1	c.582+57A>G (n.582+57A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188988193A=	CA1315395616	COL3A1	c.582+59A= (n.582+59A=)
2	g.188988193A>G	CA762251781	COL3A1	c.582+59A>G (n.582+59A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188988193A>T	CA2662286373	COL3A1	c.582+59A>T (n.582+59A>T)	gnomAD v4
2	g.188988194T>C	CA2550516181	COL3A1	c.582+60T>C (n.582+60T>C)
2	g.188988195A=	CA1315395617	COL3A1	c.582+61A= (n.582+61A=)
2	g.188988195A>C	CA1315395618	COL3A1	c.582+61A>C (n.582+61A>C)	dbSNP gnomAD v4
2	g.188988196T>C	CA2577185106	COL3A1	c.582+62T>C (n.582+62T>C)
2	g.188988197T>A	CA2662286374	COL3A1	c.582+63T>A (n.582+63T>A)	gnomAD v4
2	g.188988197T>C	CA2662286376	COL3A1	c.582+63T>C (n.582+63T>C)	gnomAD v4
2	g.188988197T>G	CA2662286375	COL3A1	c.582+63T>G (n.582+63T>G)	gnomAD v4
2	g.188988198C>A	CA2662286377	COL3A1	c.582+64C>A (n.582+64C>A)	gnomAD v4
2	g.188988198C=	CA1315395619	COL3A1	c.582+64C= (n.582+64C=)
2	g.188988198C>T	CA1040403902	COL3A1	c.582+64C>T (n.582+64C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188988200G>A	CA2662286378	COL3A1	c.582+66G>A (n.582+66G>A)	gnomAD v4
2	g.188988201C>A	CA2577185107	COL3A1	c.582+67C>A (n.582+67C>A)	gnomAD v4
2	g.188988201C>T	CA2662286379	COL3A1	c.582+67C>T (n.582+67C>T)	gnomAD v4
2	g.188988202T>C	CA1315395621	COL3A1	c.582+68T>C (n.582+68T>C)	dbSNP
2	g.188988202T=	CA1315395620	COL3A1	c.582+68T= (n.582+68T=)
2	g.188988203A>G	CA2662286380	COL3A1	c.582+69A>G (n.582+69A>G)	gnomAD v4
2	g.188988204T>A	CA2577185108	COL3A1	c.582+70T>A (n.582+70T>A)
2	g.188988204T>C	CA2753571897	COL3A1	c.582+70T>C (n.582+70T>C)
2	g.188988207T>C	CA62588321	COL3A1	c.582+73T>C (n.582+73T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188988207T>G	CA2662286381	COL3A1	c.582+73T>G (n.582+73T>G)	gnomAD v4
2	g.188988207T=	CA1315395622	COL3A1	c.582+73T= (n.582+73T=)
2	g.188988208T>C	CA2577185109	COL3A1	c.582+74T>C (n.582+74T>C)
2	g.188988209C>A	CA2577185110	COL3A1	c.582+75C>A (n.582+75C>A)	gnomAD v4
2	g.188988211G>T	CA2662286382	COL3A1	c.582+77G>T (n.582+77G>T)	gnomAD v4
2	g.188988212C>A	CA2577185111	COL3A1	c.582+78C>A (n.582+78C>A)	gnomAD v4
2	g.188988212C=	CA1315395623	COL3A1	c.582+78C= (n.582+78C=)
2	g.188988212C>T	CA1040403903	COL3A1	c.582+78C>T (n.582+78C>T)	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched