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.188989525_188989568del	CA2662286878	COL3A1	c.690+76_690+119del (n.690+76_690+119del)	gnomAD v4
2	g.188989529_188989534del	CA2753571972	COL3A1	c.690+80_690+85del (n.690+80_690+85del)
2	g.188989532_188989537del	CA2753571973	COL3A1	c.690+83_690+88del (n.690+83_690+88del)
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=)
2	g.188989599G>T	CA2662286939	COL3A1	c.690+150G>T (n.690+150G>T)	gnomAD v4
2	g.188989600A>G	CA2701314774	COL3A1	c.690+151A>G (n.690+151A>G)	dbSNP
2	g.188989601G>A	CA762191905	COL3A1	c.690+152G>A (n.690+152G>A)	dbSNP gnomAD v3 gnomAD v4
2	g.188989601G=	CA1315396273	COL3A1	c.690+152G= (n.690+152G=)
2	g.188989605C=	CA1315396274	COL3A1	c.690+156C= (n.690+156C=)
2	g.188989605C>T	CA762191909	COL3A1	c.690+156C>T (n.690+156C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188989606T>C	CA762191910	COL3A1	c.690+157T>C (n.690+157T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188989606T=	CA1315396275	COL3A1	c.690+157T= (n.690+157T=)
2	g.188989607A=	CA1315396276	COL3A1	c.690+158A= (n.690+158A=)
2	g.188989607A>C	CA762191911	COL3A1	c.690+158A>C (n.690+158A>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188989611A=	CA1315396277	COL3A1	c.690+162A= (n.690+162A=)
2	g.188989611A>G	CA62589758	COL3A1	c.690+162A>G (n.690+162A>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989612G>A	CA430309030	COL3A1	c.690+163G>A (n.690+163G>A)
2	g.188989614A=	CA1315396278	COL3A1	c.690+165A= (n.690+165A=)
2	g.188989614A>T	CA62589767	COL3A1	c.690+165A>T (n.690+165A>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188989617T>C	CA2701315059	COL3A1	c.690+168T>C (n.690+168T>C)	dbSNP
2	g.188989618G>A	CA762191915	COL3A1	c.690+169G>A (n.690+169G>A)	dbSNP
2	g.188989618G=	CA1315396279	COL3A1	c.690+169G= (n.690+169G=)
2	g.188989619C=	CA1315396280	COL3A1	c.690+170C= (n.690+170C=)
2	g.188989619C>T	CA62589774	COL3A1	c.690+170C>T (n.690+170C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989620G>A	CA62589777	COL3A1	c.690+171G>A (n.690+171G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.188989620G=	CA1315396281	COL3A1	c.690+171G= (n.690+171G=)
2	g.188989623dup	CA62589782	COL3A1	c.690+174dup (n.690+174dup)	dbSNP
2	g.188989622T>A	CA62589788	COL3A1	c.690+173T>A (n.690+173T>A)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989622T=	CA1315396282	COL3A1	c.690+173T= (n.690+173T=)
2	g.188989622_188989623delinsAC	CA62589793	COL3A1	c.690+173_690+174delinsAC (n.690+173_690+174delinsAC)	dbSNP
2	g.188989622_188989623delinsTT	CA1315396283	COL3A1	c.690+173_690+174delinsTT (n.690+173_690+174delinsTT)
2	g.188989623T>C	CA62589798	COL3A1	c.690+174T>C (n.690+174T>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989623T=	CA1315396284	COL3A1	c.690+174T= (n.690+174T=)
2	g.188989623delinsAC	CA62589799	COL3A1	c.690+174delinsAC (n.690+174delinsAC)	dbSNP
2	g.188989626A=	CA1315396285	COL3A1	c.690+177A= (n.690+177A=)
2	g.188989626A>G	CA1315396286	COL3A1	c.690+177A>G (n.690+177A>G)	dbSNP
2	g.188989627_188989628delinsTA	CA1315396287	COL3A1	c.690+178_690+179delinsTA (n.690+178_690+179delinsTA)
2	g.188989628del	CA1040404612	COL3A1	c.690+179del (n.690+179del)	dbSNP gnomAD v3 gnomAD v4
2	g.188989628A=	CA1315396288	COL3A1	c.690+179A= (n.690+179A=)
2	g.188989628A>G	CA1315396289	COL3A1	c.690+179A>G (n.690+179A>G)	dbSNP
2	g.188989629T>C	CA62589800	COL3A1	c.690+180T>C (n.690+180T>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989629T=	CA1315396290	COL3A1	c.690+180T= (n.690+180T=)
2	g.188989630A=	CA1315396292	COL3A1	c.690+181A= (n.690+181A=)
2	g.188989630A>C	CA762191922	COL3A1	c.690+181A>C (n.690+181A>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188989630A>G	CA2553787895	COL3A1	c.690+181A>G (n.690+181A>G)
2	g.188989630_188989636delinsATATCAT	CA1315396291	COL3A1	c.690+181_690+187delinsATATCAT (n.690+181_690+187delinsATATCAT)
2	g.188989631T>C	CA2701315098	COL3A1	c.690+182T>C (n.690+182T>C)	dbSNP
2	g.188989632_188989637del	CA762191924	COL3A1	c.690+183_690+188del (n.690+183_690+188del)	dbSNP gnomAD v3 gnomAD v4
2	g.188989632A=	CA1315396293	COL3A1	c.690+183A= (n.690+183A=)
2	g.188989632A>G	CA538441076	COL3A1	c.690+183A>G (n.690+183A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989633T>C	CA62589806	COL3A1	c.690+184T>C (n.690+184T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989633T=	CA1315396294	COL3A1	c.690+184T= (n.690+184T=)
2	g.188989634C=	CA1315396295	COL3A1	c.690+185C= (n.690+185C=)
2	g.188989634C>G	CA762191926	COL3A1	c.690+185C>G (n.690+185C>G)	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched