Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.188988136_188988150del	CA2582342050	COL3A1	c.582+2_582+16del	ClinVar
2	g.188988138_188988141dup	CA1040403874	COL3A1	c.582+4_582+7dup (n.582+4_582+7dup)	ClinVar dbSNP gnomAD v3 gnomAD v4
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
2	g.188988213C>A	CA1315395625	COL3A1	c.582+79C>A (n.582+79C>A)	dbSNP gnomAD v4
2	g.188988213C=	CA1315395624	COL3A1	c.582+79C= (n.582+79C=)
2	g.188988214A>G	CA2577185112	COL3A1	c.582+80A>G (n.582+80A>G)
2	g.188988217C>A	CA2662286383	COL3A1	c.582+83C>A (n.582+83C>A)	gnomAD v4
2	g.188988218C=	CA1315395626	COL3A1	c.582+84C= (n.582+84C=)
2	g.188988218C>T	CA62588326	COL3A1	c.582+84C>T (n.582+84C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188988218_188988219delinsCA	CA1315395627	COL3A1	c.582+84_582+85delinsCA (n.582+84_582+85delinsCA)
2	g.188988219del	CA1040403905	COL3A1	c.582+85del (n.582+85del)	dbSNP gnomAD v3 gnomAD v4
2	g.188988219A=	CA1315395628	COL3A1	c.582+85A= (n.582+85A=)
2	g.188988219A>C	CA1315395629	COL3A1	c.582+85A>C (n.582+85A>C)	dbSNP
2	g.188988219A>G	CA1315395630	COL3A1	c.582+85A>G (n.582+85A>G)	dbSNP gnomAD v4
2	g.188988220G>A	CA1315395632	COL3A1	c.582+86G>A (n.582+86G>A)	dbSNP gnomAD v4
2	g.188988220G=	CA1315395631	COL3A1	c.582+86G= (n.582+86G=)
2	g.188988220G>T	CA2662286385	COL3A1	c.582+86G>T (n.582+86G>T)	gnomAD v4
2	g.188988221C>A	CA2662286386	COL3A1	c.582+87C>A (n.582+87C>A)	gnomAD v4
2	g.188988221C>T	CA2577185113	COL3A1	c.582+87C>T (n.582+87C>T)
2	g.188988222A=	CA1315395633	COL3A1	c.582+88A= (n.582+88A=)
2	g.188988222A>G	CA762251797	COL3A1	c.582+88A>G (n.582+88A>G)	dbSNP gnomAD v4
2	g.188988222A>T	CA762251792	COL3A1	c.582+88A>T (n.582+88A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188988223T>C	CA2662286388	COL3A1	c.582+89T>C (n.582+89T>C)	gnomAD v4
2	g.188988224G>A	CA762251803	COL3A1	c.582+90G>A (n.582+90G>A)	dbSNP gnomAD v4
2	g.188988224G=	CA1315395634	COL3A1	c.582+90G= (n.582+90G=)
2	g.188988225C>A	CA2577185114	COL3A1	c.582+91C>A (n.582+91C>A)	gnomAD v4
2	g.188988225C=	CA1315395635	COL3A1	c.582+91C= (n.582+91C=)
2	g.188988225C>G	CA2577185115	COL3A1	c.582+91C>G (n.582+91C>G)
2	g.188988225C>T	CA1315395636	COL3A1	c.582+91C>T (n.582+91C>T)	dbSNP
2	g.188988226A=	CA1315395637	COL3A1	c.582+92A= (n.582+92A=)
2	g.188988226A>G	CA1315395638	COL3A1	c.582+92A>G (n.582+92A>G)	dbSNP gnomAD v4
2	g.188988227T>A	CA2577185116	COL3A1	c.582+93T>A (n.582+93T>A)	gnomAD v4
2	g.188988228A>G	CA2662286389	COL3A1	c.582+94A>G (n.582+94A>G)	gnomAD v4
2	g.188988230T>A	CA2543314423	COL3A1	c.582+96T>A (n.582+96T>A)	gnomAD v4
2	g.188988231C>A	CA2577185117	COL3A1	c.582+97C>A (n.582+97C>A)	gnomAD v4
2	g.188988231C=	CA1315395639	COL3A1	c.582+97C= (n.582+97C=)
2	g.188988231C>G	CA762251804	COL3A1	c.582+97C>G (n.582+97C>G)	dbSNP
2	g.188988231C>T	CA2662286390	COL3A1	c.582+97C>T (n.582+97C>T)	gnomAD v4
2	g.188988232C>A	CA62588330	COL3A1	c.582+98C>A (n.582+98C>A)	dbSNP gnomAD v4
2	g.188988232C=	CA1315395640	COL3A1	c.582+98C= (n.582+98C=)
2	g.188988233C>A	CA2577185118	COL3A1	c.582+99C>A (n.582+99C>A)	gnomAD v4
2	g.188988233C=	CA1315395641	COL3A1	c.582+99C= (n.582+99C=)
2	g.188988233C>G	CA1315395642	COL3A1	c.582+99C>G (n.582+99C>G)	dbSNP gnomAD v4
2	g.188988233C>T	CA2662286391	COL3A1	c.582+99C>T (n.582+99C>T)	gnomAD v4
2	g.188988239A>C	CA2701314315	COL3A1	c.582+105A>C (n.582+105A>C)	dbSNP

Number of alleles fetched