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.188989497G>A	CA2662286855	COL3A1	c.690+48G>A (n.690+48G>A)	gnomAD v4
2	g.188989498T>A	CA2662286856	COL3A1	c.690+49T>A (n.690+49T>A)	gnomAD v4
2	g.188989498T>G	CA076788	COL3A1	c.690+49T>G (n.690+49T>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989498T=	CA1315396233	COL3A1	c.690+49T= (n.690+49T=)
2	g.188989499A=	CA1315396234	COL3A1	c.690+50A= (n.690+50A=)
2	g.188989499A>G	CA762191876	COL3A1	c.690+50A>G (n.690+50A>G)	dbSNP
2	g.188989500T>C	CA2577185162	COL3A1	c.690+51T>C (n.690+51T>C)
2	g.188989502C>A	CA2662286857	COL3A1	c.690+53C>A (n.690+53C>A)	gnomAD v4
2	g.188989502C>G	CA2662286858	COL3A1	c.690+53C>G (n.690+53C>G)	gnomAD v4
2	g.188989503T>A	CA2577185163	COL3A1	c.690+54T>A (n.690+54T>A)
2	g.188989504A=	CA1315396235	COL3A1	c.690+55A= (n.690+55A=)
2	g.188989504A>G	CA1315396236	COL3A1	c.690+55A>G (n.690+55A>G)	dbSNP gnomAD v4
2	g.188989506A=	CA1315396237	COL3A1	c.690+57A= (n.690+57A=)
2	g.188989506A>G	CA62589664	COL3A1	c.690+57A>G (n.690+57A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989507C>A	CA2662286860	COL3A1	c.690+58C>A (n.690+58C>A)	gnomAD v4
2	g.188989507C=	CA1315396238	COL3A1	c.690+58C= (n.690+58C=)
2	g.188989507C>T	CA62589695	COL3A1	c.690+58C>T (n.690+58C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188989507dup	CA2662286859	COL3A1	c.690+58dup (n.690+58dup)	gnomAD v4
2	g.188989508A>T	CA2662286861	COL3A1	c.690+59A>T (n.690+59A>T)	gnomAD v4
2	g.188989509G>A	CA62589702	COL3A1	c.690+60G>A (n.690+60G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.188989509G=	CA1315396239	COL3A1	c.690+60G= (n.690+60G=)
2	g.188989509G>T	CA1315396240	COL3A1	c.690+60G>T (n.690+60G>T)	dbSNP gnomAD v4
2	g.188989510T>A	CA2662286863	COL3A1	c.690+61T>A (n.690+61T>A)	gnomAD v4
2	g.188989510T>C	CA2662286865	COL3A1	c.690+61T>C (n.690+61T>C)	gnomAD v4
2	g.188989511A=	CA1315396241	COL3A1	c.690+62A= (n.690+62A=)
2	g.188989511A>T	CA62589708	COL3A1	c.690+62A>T (n.690+62A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188989512T>C	CA2662286866	COL3A1	c.690+63T>C (n.690+63T>C)	gnomAD v4
2	g.188989513A>G	CA2662286867	COL3A1	c.690+64A>G (n.690+64A>G)	gnomAD v4
2	g.188989516C>A	CA2662286869	COL3A1	c.690+67C>A (n.690+67C>A)	gnomAD v4
2	g.188989516C>G	CA2662286870	COL3A1	c.690+67C>G (n.690+67C>G)	gnomAD v4
2	g.188989517T>C	CA2560872561	COL3A1	c.690+68T>C (n.690+68T>C)
2	g.188989517_188989519del	CA2662286872	COL3A1	c.690+68_690+70del (n.690+68_690+70del)	gnomAD v4
2	g.188989519del	CA2577185164	COL3A1	c.690+70del (n.690+70del)
2	g.188989518_188989519del	CA2662286871	COL3A1	c.690+69_690+70del (n.690+69_690+70del)	gnomAD v4
2	g.188989518T>A	CA2662286873	COL3A1	c.690+69T>A (n.690+69T>A)	gnomAD v4
2	g.188989518T>C	CA2662286874	COL3A1	c.690+69T>C (n.690+69T>C)	gnomAD v4
2	g.188989519T>C	CA2662286875	COL3A1	c.690+70T>C (n.690+70T>C)	gnomAD v4
2	g.188989520A>C	CA2662286877	COL3A1	c.690+71A>C (n.690+71A>C)	gnomAD v4
2	g.188989521T>C	CA762191879	COL3A1	c.690+72T>C (n.690+72T>C)	dbSNP gnomAD v4
2	g.188989521T=	CA1315396242	COL3A1	c.690+72T= (n.690+72T=)
2	g.188989525_188989568del	CA2662286878	COL3A1	c.690+76_690+119del (n.690+76_690+119del)	gnomAD v4
2	g.188989522G>A	CA2662286880	COL3A1	c.690+73G>A (n.690+73G>A)	gnomAD v4
2	g.188989522G>C	CA62589711	COL3A1	c.690+73G>C (n.690+73G>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188989522G=	CA1315396243	COL3A1	c.690+73G= (n.690+73G=)
2	g.188989523T>A	CA2577185165	COL3A1	c.690+74T>A (n.690+74T>A)	gnomAD v4
2	g.188989524C>A	CA2662286881	COL3A1	c.690+75C>A (n.690+75C>A)	gnomAD v4
2	g.188989525A>G	CA2662286883	COL3A1	c.690+76A>G (n.690+76A>G)	gnomAD v4
2	g.188989526G>A	CA2662286886	COL3A1	c.690+77G>A (n.690+77G>A)	gnomAD v4
2	g.188989526G>T	CA2662286884	COL3A1	c.690+77G>T (n.690+77G>T)	gnomAD v4
2	g.188989529T>A	CA2662286887	COL3A1	c.690+80T>A (n.690+80T>A)	gnomAD v4
2	g.188989529T>C	CA2662286889	COL3A1	c.690+80T>C (n.690+80T>C)	gnomAD v4
2	g.188989529_188989532del	CA2662286888	COL3A1	c.690+80_690+83del (n.690+80_690+83del)	gnomAD v4
2	g.188989529_188989534del	CA2753571972	COL3A1	c.690+80_690+85del (n.690+80_690+85del)
2	g.188989530C>A	CA2577185167	COL3A1	c.690+81C>A (n.690+81C>A)	gnomAD v4
2	g.188989530C=	CA1315396244	COL3A1	c.690+81C= (n.690+81C=)
2	g.188989530C>T	CA762191883	COL3A1	c.690+81C>T (n.690+81C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188989532del	CA2577185166	COL3A1	c.690+83del (n.690+83del)
2	g.188989531_188989532del	CA2662286890	COL3A1	c.690+82_690+83del (n.690+82_690+83del)	gnomAD v4
2	g.188989531C>A	CA538441071	COL3A1	c.690+82C>A (n.690+82C>A)	dbSNP gnomAD v2 gnomAD v4
2	g.188989531C=	CA1315396245	COL3A1	c.690+82C= (n.690+82C=)
2	g.188989531C>T	CA2662286892	COL3A1	c.690+82C>T (n.690+82C>T)	gnomAD v4
2	g.188989532C>A	CA538441072	COL3A1	c.690+83C>A (n.690+83C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989532C=	CA1315396246	COL3A1	c.690+83C= (n.690+83C=)
2	g.188989532_188989537del	CA2753571973	COL3A1	c.690+83_690+88del (n.690+83_690+88del)
2	g.188989533A>G	CA2662286894	COL3A1	c.690+84A>G (n.690+84A>G)	gnomAD v4
2	g.188989533dup	CA2662286893	COL3A1	c.690+84dup (n.690+84dup)	gnomAD v4
2	g.188989534G>A	CA538441073	COL3A1	c.690+85G>A (n.690+85G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989534G=	CA1315396247	COL3A1	c.690+85G= (n.690+85G=)
2	g.188989536A>G	CA2544734343	COL3A1	c.690+87A>G (n.690+87A>G)
2	g.188989537G>A	CA1040404552	COL3A1	c.690+88G>A (n.690+88G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.188989537G=	CA1315396249	COL3A1	c.690+88G= (n.690+88G=)
2	g.188989537_188989538delinsGA	CA1315396248	COL3A1	c.690+88_690+89delinsGA (n.690+88_690+89delinsGA)
2	g.188989538A>G	CA2662286899	COL3A1	c.690+89A>G (n.690+89A>G)	gnomAD v4
2	g.188989546_188989547insAAAAAAAAAAA	CA2753571976	COL3A1	c.690+97_690+98insAAAAAAAAAAA (n.690+97_690+98insAAAAAAAAAAA)
2	g.188989546dup	CA62589713	COL3A1	c.690+97dup (n.690+97dup)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989545_188989546dup	CA2662286901	COL3A1	c.690+96_690+97dup (n.690+96_690+97dup)	gnomAD v4
2	g.188989544_188989546dup	CA2662286900	COL3A1	c.690+95_690+97dup (n.690+95_690+97dup)	gnomAD v4
2	g.188989546del	CA62589719	COL3A1	c.690+97del (n.690+97del)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989545_188989546del	CA2662286898	COL3A1	c.690+96_690+97del (n.690+96_690+97del)	gnomAD v4
2	g.188989541A>T	CA2662286904	COL3A1	c.690+92A>T (n.690+92A>T)	gnomAD v4
2	g.188989543A>G	CA2662286906	COL3A1	c.690+94A>G (n.690+94A>G)	gnomAD v4
2	g.188989544A>G	CA2662286907	COL3A1	c.690+95A>G (n.690+95A>G)	gnomAD v4
2	g.188989546_188989547insCCAAACACACCCAACACA	CA2753571977	COL3A1	c.690+97_690+98insCCAAACACACCCAACACA (n.690+97_690+98insCCAAACACACCCAACACA)
2	g.188989546_188989547delinsAT	CA1315396250	COL3A1	c.690+97_690+98delinsAT (n.690+97_690+98delinsAT)
2	g.188989547del	CA762191891	COL3A1	c.690+98del (n.690+98del)	dbSNP gnomAD v4
2	g.188989547T>A	CA762191894	COL3A1	c.690+98T>A (n.690+98T>A)	dbSNP gnomAD v3 gnomAD v4
2	g.188989547T>C	CA538441074	COL3A1	c.690+98T>C (n.690+98T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989547T=	CA1315396251	COL3A1	c.690+98T= (n.690+98T=)
2	g.188989548G>A	CA62589723	COL3A1	c.690+99G>A (n.690+99G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989548G=	CA1315396252	COL3A1	c.690+99G= (n.690+99G=)
2	g.188989549T>G	CA2662286910	COL3A1	c.690+100T>G (n.690+100T>G)	gnomAD v4
2	g.188989550T>C	CA1315396254	COL3A1	c.690+101T>C (n.690+101T>C)	dbSNP gnomAD v4
2	g.188989550T=	CA1315396253	COL3A1	c.690+101T= (n.690+101T=)
2	g.188989551del	CA2662286913	COL3A1	c.690+102del (n.690+102del)	gnomAD v4
2	g.188989551A>G	CA2662286914	COL3A1	c.690+102A>G (n.690+102A>G)	gnomAD v4
2	g.188989552T>C	CA1315396256	COL3A1	c.690+103T>C (n.690+103T>C)	dbSNP gnomAD v4
2	g.188989552T=	CA1315396255	COL3A1	c.690+103T= (n.690+103T=)
2	g.188989554C>A	CA2662286916	COL3A1	c.690+105C>A (n.690+105C>A)	gnomAD v4
2	g.188989554C=	CA1315396258	COL3A1	c.690+105C= (n.690+105C=)
2	g.188989554C>T	CA1315396257	COL3A1	c.690+105C>T (n.690+105C>T)	dbSNP gnomAD v4
2	g.188989556A>G	CA2662286918	COL3A1	c.690+107A>G (n.690+107A>G)	gnomAD v4
2	g.188989560_188989563delinsATTG	CA1315396259	COL3A1	c.690+111_690+114delinsATTG (n.690+111_690+114delinsATTG)
2	g.188989565_188989567del	CA538441075	COL3A1	c.690+116_690+118del (n.690+116_690+118del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989562T>A	CA2662286920	COL3A1	c.690+113T>A (n.690+113T>A)	gnomAD v4
2	g.188989563G>A	CA762191900	COL3A1	c.690+114G>A (n.690+114G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.188989563G=	CA1315396260	COL3A1	c.690+114G= (n.690+114G=)
2	g.188989563G>T	CA2662286921	COL3A1	c.690+114G>T (n.690+114G>T)	gnomAD v4
2	g.188989564T>C	CA62589739	COL3A1	c.690+115T>C (n.690+115T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188989564T=	CA1315396261	COL3A1	c.690+115T= (n.690+115T=)
2	g.188989565del	CA2662286922	COL3A1	c.690+116del (n.690+116del)	gnomAD v4
2	g.188989565T>C	CA2662286923	COL3A1	c.690+116T>C (n.690+116T>C)	gnomAD v4
2	g.188989566G>A	CA2662286924	COL3A1	c.690+117G>A (n.690+117G>A)	gnomAD v4
2	g.188989566G>C	CA2662286926	COL3A1	c.690+117G>C (n.690+117G>C)	gnomAD v4
2	g.188989566G=	CA1315396262	COL3A1	c.690+117G= (n.690+117G=)
2	g.188989566G>T	CA1040404566	COL3A1	c.690+117G>T (n.690+117G>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188989567T>A	CA2753571978	COL3A1	c.690+118T>A (n.690+118T>A)
2	g.188989567T>C	CA2606991696	COL3A1	c.690+118T>C (n.690+118T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188989569T>C	CA2517424193	COL3A1	c.690+120T>C (n.690+120T>C)
2	g.188989570T>A	CA2662286927	COL3A1	c.690+121T>A (n.690+121T>A)	gnomAD v4
2	g.188989570_188989573delinsTAAC	CA1315396263	COL3A1	c.690+121_690+124delinsTAAC (n.690+121_690+124delinsTAAC)
2	g.188989575_188989577del	CA62589743	COL3A1	c.690+126_690+128del (n.690+126_690+128del)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989573C>A	CA2662286929	COL3A1	c.690+124C>A (n.690+124C>A)	gnomAD v4
2	g.188989574A>G	CA2662286930	COL3A1	c.690+125A>G (n.690+125A>G)	gnomAD v4
2	g.188989575A>G	CA2662286931	COL3A1	c.690+126A>G (n.690+126A>G)	gnomAD v4
2	g.188989576C>A	CA2662286933	COL3A1	c.690+127C>A (n.690+127C>A)	gnomAD v4
2	g.188989576C=	CA1315396265	COL3A1	c.690+127C= (n.690+127C=)
2	g.188989576C>T	CA1315396264	COL3A1	c.690+127C>T (n.690+127C>T)	dbSNP
2	g.188989577A=	CA1315396266	COL3A1	c.690+128A= (n.690+128A=)
2	g.188989577A>G	CA62589753	COL3A1	c.690+128A>G (n.690+128A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188989578_188989581del	CA2662286934	COL3A1	c.690+129_690+132del (n.690+129_690+132del)	gnomAD v4
2	g.188989581T>C	CA1040404574	COL3A1	c.690+132T>C (n.690+132T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188989581T=	CA1315396267	COL3A1	c.690+132T= (n.690+132T=)
2	g.188989583_188989584del	CA2662286935	COL3A1	c.690+134_690+135del (n.690+134_690+135del)	gnomAD v4
2	g.188989584T>C	CA2662286936	COL3A1	c.690+135T>C (n.690+135T>C)	gnomAD v4
2	g.188989585T>A	CA2662286937	COL3A1	c.690+136T>A (n.690+136T>A)	gnomAD v4
2	g.188989588T>C	CA1040404584	COL3A1	c.690+139T>C (n.690+139T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188989588T=	CA1315396268	COL3A1	c.690+139T= (n.690+139T=)
2	g.188989590C>T	CA2557494943	COL3A1	c.690+141C>T (n.690+141C>T)
2	g.188989591T>A	CA762191903	COL3A1	c.690+142T>A (n.690+142T>A)	dbSNP
2	g.188989591T=	CA1315396269	COL3A1	c.690+142T= (n.690+142T=)
2	g.188989592_188989599delinsAATTTTTG	CA1315396270	COL3A1	c.690+143_690+150delinsAATTTTTG (n.690+143_690+150delinsAATTTTTG)
2	g.188989594_188989600del	CA1315396271	COL3A1	c.690+145_690+151del (n.690+145_690+151del)	dbSNP
2	g.188989594T>C	CA762191904	COL3A1	c.690+145T>C (n.690+145T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188989594T=	CA1315396272	COL3A1	c.690+145T= (n.690+145T=)

Number of alleles fetched