Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.188988189_188990680delinsTATGCAAAATCAAAC	CA913190219	COL3A1	c.582+55_798+320delinsTATGCAAAATCAAAC	ClinVar
2	g.188989302del	CA2577185147	COL3A1	c.637-94del (n.637-94del)	gnomAD v4
2	g.188989301_188989315delinsAAGGAGGTTCCTTCC	CA1315396128	COL3A1	c.637-95_637-81delinsAAGGAGGTTCCTTCC (n.637-95_637-81delinsAAGGAGGTTCCTTCC)
2	g.188989302A=	CA1315396129	COL3A1	c.637-94A= (n.637-94A=)
2	g.188989302A>G	CA1315396130	COL3A1	c.637-94A>G (n.637-94A>G)	dbSNP
2	g.188989306_188989319del	CA1040404452	COL3A1	c.637-90_637-77del (n.637-90_637-77del)	dbSNP gnomAD v3 gnomAD v4
2	g.188989303G>A	CA1315396132	COL3A1	c.637-93G>A (n.637-93G>A)	dbSNP
2	g.188989303G>C	CA2662286625	COL3A1	c.637-93G>C (n.637-93G>C)	gnomAD v4
2	g.188989303G=	CA1315396131	COL3A1	c.637-93G= (n.637-93G=)
2	g.188989304G>A	CA62589298	COL3A1	c.637-92G>A (n.637-92G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989304G=	CA1315396133	COL3A1	c.637-92G= (n.637-92G=)
2	g.188989304G>T	CA2577185148	COL3A1	c.637-92G>T (n.637-92G>T)
2	g.188989305A=	CA1315396134	COL3A1	c.637-91A= (n.637-91A=)
2	g.188989305A>T	CA1315396135	COL3A1	c.637-91A>T (n.637-91A>T)	dbSNP
2	g.188989306G>A	CA62589307	COL3A1	c.637-90G>A (n.637-90G>A)	dbSNP gnomAD v4
2	g.188989306G>C	CA2662286627	COL3A1	c.637-90G>C (n.637-90G>C)	gnomAD v4
2	g.188989306G=	CA1315396136	COL3A1	c.637-90G= (n.637-90G=)
2	g.188989307G>A	CA538441060	COL3A1	c.637-89G>A (n.637-89G>A)	gnomAD v2
2	g.188989307G=	CA1315396137	COL3A1	c.637-89G= (n.637-89G=)
2	g.188989307G>T	CA62589314	COL3A1	c.637-89G>T (n.637-89G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989308T>G	CA1040404455	COL3A1	c.637-88T>G (n.637-88T>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188989308T=	CA1315396138	COL3A1	c.637-88T= (n.637-88T=)
2	g.188989310C>A	CA2662286630	COL3A1	c.637-86C>A (n.637-86C>A)	gnomAD v4
2	g.188989311C>A	CA2662286631	COL3A1	c.637-85C>A (n.637-85C>A)	gnomAD v4
2	g.188989311C=	CA1315396139	COL3A1	c.637-85C= (n.637-85C=)
2	g.188989311C>G	CA762191720	COL3A1	c.637-85C>G (n.637-85C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188989311C>T	CA2662286632	COL3A1	c.637-85C>T (n.637-85C>T)	gnomAD v4
2	g.188989312T>C	CA538441061	COL3A1	c.637-84T>C (n.637-84T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989312T>G	CA2662286633	COL3A1	c.637-84T>G (n.637-84T>G)	gnomAD v4
2	g.188989312T=	CA1315396140	COL3A1	c.637-84T= (n.637-84T=)
2	g.188989313T>A	CA2662286634	COL3A1	c.637-83T>A (n.637-83T>A)	gnomAD v4
2	g.188989313T>C	CA62589315	COL3A1	c.637-83T>C (n.637-83T>C)	dbSNP gnomAD v4
2	g.188989313T=	CA1315396141	COL3A1	c.637-83T= (n.637-83T=)
2	g.188989314C>A	CA2662286635	COL3A1	c.637-82C>A (n.637-82C>A)	gnomAD v4
2	g.188989315C>A	CA2577185149	COL3A1	c.637-81C>A (n.637-81C>A)	gnomAD v4
2	g.188989318G>A	CA2577185150	COL3A1	c.637-78G>A (n.637-78G>A)	gnomAD v4
2	g.188989318G>T	CA2662286636	COL3A1	c.637-78G>T (n.637-78G>T)	gnomAD v4
2	g.188989319A=	CA1315396142	COL3A1	c.637-77A= (n.637-77A=)
2	g.188989319A>C	CA1040404460	COL3A1	c.637-77A>C (n.637-77A>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188989320A=	CA1315396143	COL3A1	c.637-76A= (n.637-76A=)
2	g.188989320A>C	CA762191723	COL3A1	c.637-76A>C (n.637-76A>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188989320A>G	CA62589316	COL3A1	c.637-76A>G (n.637-76A>G)	dbSNP
2	g.188989321T>C	CA2662286638	COL3A1	c.637-75T>C (n.637-75T>C)	gnomAD v4
2	g.188989322A=	CA1315396144	COL3A1	c.637-74A= (n.637-74A=)
2	g.188989322A>G	CA538441062	COL3A1	c.637-74A>G (n.637-74A>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989323C>A	CA62589324	COL3A1	c.637-73C>A (n.637-73C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989323C=	CA1315396145	COL3A1	c.637-73C= (n.637-73C=)
2	g.188989324A=	CA1315396146	COL3A1	c.637-72A= (n.637-72A=)
2	g.188989324A>C	CA62589339	COL3A1	c.637-72A>C (n.637-72A>C)	dbSNP
2	g.188989325T>A	CA1315396148	COL3A1	c.637-71T>A (n.637-71T>A)	dbSNP
2	g.188989325T>G	CA2662286639	COL3A1	c.637-71T>G (n.637-71T>G)	gnomAD v4
2	g.188989325T=	CA1315396147	COL3A1	c.637-71T= (n.637-71T=)
2	g.188989327C>A	CA2577185151	COL3A1	c.637-69C>A (n.637-69C>A)	gnomAD v4
2	g.188989327C=	CA1315396149	COL3A1	c.637-69C= (n.637-69C=)
2	g.188989327C>G	CA2662286640	COL3A1	c.637-69C>G (n.637-69C>G)	gnomAD v4
2	g.188989327C>T	CA538441063	COL3A1	c.637-69C>T (n.637-69C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989328A>T	CA2662286642	COL3A1	c.637-68A>T (n.637-68A>T)	gnomAD v4
2	g.188989329C>A	CA2662286643	COL3A1	c.637-67C>A (n.637-67C>A)	gnomAD v4
2	g.188989329C=	CA1315396150	COL3A1	c.637-67C= (n.637-67C=)
2	g.188989329C>G	CA62589345	COL3A1	c.637-67C>G (n.637-67C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188989329C>T	CA2662286644	COL3A1	c.637-67C>T (n.637-67C>T)	gnomAD v4
2	g.188989330T>G	CA1040404470	COL3A1	c.637-66T>G (n.637-66T>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188989330T=	CA1315396151	COL3A1	c.637-66T= (n.637-66T=)
2	g.188989332T>C	CA1315396152	COL3A1	c.637-64T>C (n.637-64T>C)	dbSNP gnomAD v4
2	g.188989332T=	CA1315396153	COL3A1	c.637-64T= (n.637-64T=)
2	g.188989333G>A	CA2662286647	COL3A1	c.637-63G>A (n.637-63G>A)	gnomAD v4
2	g.188989334T>A	CA2577185152	COL3A1	c.637-62T>A (n.637-62T>A)
2	g.188989335A>G	CA2577185153	COL3A1	c.637-61A>G (n.637-61A>G)	gnomAD v4
2	g.188989338A=	CA1315396154	COL3A1	c.637-58A= (n.637-58A=)
2	g.188989338A>T	CA62589347	COL3A1	c.637-58A>T (n.637-58A>T)	dbSNP gnomAD v2 gnomAD v4
2	g.188989339A>G	CA2662286648	COL3A1	c.637-57A>G (n.637-57A>G)	gnomAD v4
2	g.188989340T>C	CA762191727	COL3A1	c.637-56T>C (n.637-56T>C)	dbSNP gnomAD v4
2	g.188989340T>G	CA62589349	COL3A1	c.637-56T>G (n.637-56T>G)	dbSNP
2	g.188989340T=	CA1315396155	COL3A1	c.637-56T= (n.637-56T=)
2	g.188989344T>A	CA2577185154	COL3A1	c.637-52T>A (n.637-52T>A)
2	g.188989344T>C	CA62589356	COL3A1	c.637-52T>C (n.637-52T>C)	dbSNP gnomAD v2 gnomAD v4
2	g.188989344T=	CA1315396156	COL3A1	c.637-52T= (n.637-52T=)
2	g.188989348A>T	CA2662286653	COL3A1	c.637-48A>T (n.637-48A>T)	gnomAD v4
2	g.188989349A>C	CA2662286654	COL3A1	c.637-47A>C (n.637-47A>C)	gnomAD v4
2	g.188989350C>A	CA2662286655	COL3A1	c.637-46C>A (n.637-46C>A)	gnomAD v4
2	g.188989351A=	CA1315396157	COL3A1	c.637-45A= (n.637-45A=)
2	g.188989351A>C	CA1315396158	COL3A1	c.637-45A>C (n.637-45A>C)	dbSNP
2	g.188989351A>G	CA2662286656	COL3A1	c.637-45A>G (n.637-45A>G)	gnomAD v4
2	g.188989352G>T	CA2662286657	COL3A1	c.637-44G>T (n.637-44G>T)	gnomAD v4
2	g.188989354A>G	CA2662286658	COL3A1	c.637-42A>G (n.637-42A>G)	gnomAD v4
2	g.188989355A=	CA1315396159	COL3A1	c.637-41A= (n.637-41A=)
2	g.188989355A>C	CA076773	COL3A1	c.637-41A>C (n.637-41A>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989355A>G	CA2662286659	COL3A1	c.637-41A>G (n.637-41A>G)	gnomAD v4
2	g.188989357A>G	CA2662286661	COL3A1	c.637-39A>G (n.637-39A>G)	gnomAD v4
2	g.188989361_188989376del	CA2577185155	COL3A1	c.637-35_637-20del (n.637-35_637-20del)
2	g.188989358T>A	CA2662286663	COL3A1	c.637-38T>A (n.637-38T>A)	gnomAD v4
2	g.188989359T>C	CA2662286664	COL3A1	c.637-37T>C (n.637-37T>C)	gnomAD v4
2	g.188989359T>G	CA62589360	COL3A1	c.637-37T>G (n.637-37T>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989359T=	CA1315396160	COL3A1	c.637-37T= (n.637-37T=)
2	g.188989360T>C	CA2662286665	COL3A1	c.637-36T>C (n.637-36T>C)	gnomAD v4
2	g.188989361A=	CA1315396161	COL3A1	c.637-35A= (n.637-35A=)
2	g.188989361A>G	CA076772	COL3A1	c.637-35A>G (n.637-35A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188989361A>T	CA2662286667	COL3A1	c.637-35A>T (n.637-35A>T)	gnomAD v4
2	g.188989362C>A	CA538441064	COL3A1	c.637-34C>A (n.637-34C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989362C=	CA1315396162	COL3A1	c.637-34C= (n.637-34C=)
2	g.188989362C>G	CA2662286670	COL3A1	c.637-34C>G (n.637-34C>G)	gnomAD v4
2	g.188989362C>T	CA2662286668	COL3A1	c.637-34C>T (n.637-34C>T)	gnomAD v4
2	g.188989363A=	CA1315396163	COL3A1	c.637-33A= (n.637-33A=)
2	g.188989363A>C	CA076770	COL3A1	c.637-33A>C (n.637-33A>C)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989363A>G	CA2514417146	COL3A1	c.637-33A>G (n.637-33A>G)
2	g.188989363A>T	CA2662286677	COL3A1	c.637-33A>T (n.637-33A>T)	gnomAD v4
2	g.188989365del	CA2662286675	COL3A1	c.637-31del (n.637-31del)	dbSNP gnomAD v4
2	g.188989364A>G	CA2662286680	COL3A1	c.637-32A>G (n.637-32A>G)	gnomAD v4
2	g.188989366T>A	CA2662286682	COL3A1	c.637-30T>A (n.637-30T>A)	gnomAD v4
2	g.188989366T>G	CA538441065	COL3A1	c.637-30T>G (n.637-30T>G)	dbSNP gnomAD v2 gnomAD v4
2	g.188989366T=	CA1315396164	COL3A1	c.637-30T= (n.637-30T=)
2	g.188989367C>A	CA2577185156	COL3A1	c.637-29C>A (n.637-29C>A)	dbSNP gnomAD v4
2	g.188989367C=	CA1315396165	COL3A1	c.637-29C= (n.637-29C=)
2	g.188989367C>G	CA538441066	COL3A1	c.637-29C>G (n.637-29C>G)	dbSNP gnomAD v2
2	g.188989369A=	CA1315396166	COL3A1	c.637-27A= (n.637-27A=)
2	g.188989369A>G	CA762191737	COL3A1	c.637-27A>G (n.637-27A>G)	dbSNP gnomAD v4
2	g.188989369A>T	CA2577185157	COL3A1	c.637-27A>T (n.637-27A>T)	gnomAD v4
2	g.188989372C>A	CA2662286688	COL3A1	c.637-24C>A (n.637-24C>A)	gnomAD v4
2	g.188989373A=	CA1315396167	COL3A1	c.637-23A= (n.637-23A=)
2	g.188989373A>C	CA2662286689	COL3A1	c.637-23A>C (n.637-23A>C)	gnomAD v4
2	g.188989373A>G	CA913089598	COL3A1	c.637-23A>G (n.637-23A>G)	gnomAD v4
2	g.188989373A>T	CA62589382	COL3A1	c.637-23A>T (n.637-23A>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989374T>C	CA2662286691	COL3A1	c.637-22T>C (n.637-22T>C)	gnomAD v4
2	g.188989379dup	CA076769	COL3A1	c.637-17dup (n.637-17dup)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989379del	CA2662286690	COL3A1	c.637-17del (n.637-17del)	gnomAD v4
2	g.188989375T>C	CA2662286692	COL3A1	c.637-21T>C (n.637-21T>C)	gnomAD v4
2	g.188989376T>C	CA2753571966	COL3A1	c.637-20T>C (n.637-20T>C)
2	g.188989377T>C	CA62589396	COL3A1	c.637-19T>C (n.637-19T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188989377T=	CA1315396168	COL3A1	c.637-19T= (n.637-19T=)
2	g.188989379T>A	CA2504682465	COL3A1	c.637-17T>A (n.637-17T>A)
2	g.188989379T>C	CA2662286693	COL3A1	c.637-17T>C (n.637-17T>C)	gnomAD v4
2	g.188989380A=	CA1315396169	COL3A1	c.637-16A= (n.637-16A=)
2	g.188989380A>G	CA913089599	COL3A1	c.637-16A>G (n.637-16A>G)
2	g.188989380A>T	CA62589403	COL3A1	c.637-16A>T (n.637-16A>T)	dbSNP gnomAD v4
2	g.188989381T>A	CA2662286695	COL3A1	c.637-15T>A (n.637-15T>A)	gnomAD v4
2	g.188989381T>C	CA076767	COL3A1	c.637-15T>C (n.637-15T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989381T>G	CA1315396171	COL3A1	c.637-15T>G (n.637-15T>G)	dbSNP
2	g.188989381T=	CA1315396170	COL3A1	c.637-15T= (n.637-15T=)
2	g.188989383T>C	CA2662286696	COL3A1	c.637-13T>C (n.637-13T>C)	ClinVar gnomAD v4
2	g.188989384C>A	CA2662286698	COL3A1	c.637-12C>A (n.637-12C>A)	gnomAD v4
2	g.188989384C>T	CA2662286699	COL3A1	c.637-12C>T (n.637-12C>T)	ClinVar gnomAD v4
2	g.188989385C=	CA1315396172	COL3A1	c.637-11C= (n.637-11C=)
2	g.188989385C>T	CA762191742	COL3A1	c.637-11C>T (n.637-11C>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.188989386T>C	CA2662286700	COL3A1	c.637-10T>C (n.637-10T>C)	gnomAD v4
2	g.188989388A>T	CA2662286701	COL3A1	c.637-8A>T (n.637-8A>T)	gnomAD v4
2	g.188989389T>C	CA2662286702	COL3A1	c.637-7T>C (n.637-7T>C)	gnomAD v4
2	g.188989390T>A	CA2662286704	COL3A1	c.637-6T>A (n.637-6T>A)	gnomAD v4
2	g.188989390T>G	CA2577185158	COL3A1	c.637-6T>G (n.637-6T>G)	dbSNP
2	g.188989391T>C	CA2662286705	COL3A1	c.637-5T>C (n.637-5T>C)	gnomAD v4
2	g.188989391T>G	CA2662286707	COL3A1	c.637-5T>G (n.637-5T>G)	gnomAD v4
2	g.188989392T>C	CA2662286708	COL3A1	c.637-4T>C (n.637-4T>C)	gnomAD v4
2	g.188989392T>G	CA2697551437	COL3A1	c.637-4T>G (n.637-4T>G)	ClinVar
2	g.188989393C>A	CA62589436	COL3A1	c.637-3C>A (n.637-3C>A)	dbSNP gnomAD v4
2	g.188989393C=	CA1315396173	COL3A1	c.637-3C= (n.637-3C=)
2	g.188989394A>C	CA349848730	COL3A1	c.637-2A>C (n.637-2A>C)
2	g.188989394A>G	CA349848731	COL3A1	c.637-2A>G (n.637-2A>G)	gnomAD v4
2	g.188989394A>T	CA349848733	COL3A1	c.637-2A>T (n.637-2A>T)
2	g.188989395G>A	CA349848734	COL3A1	c.637-1G>A (n.637-1G>A)	COSMIC COSMIC
2	g.188989395G>C	CA349848736	COL3A1	c.637-1G>C (n.637-1G>C)
2	g.188989395G>T	CA349848738	COL3A1	c.637-1G>T (n.637-1G>T)	gnomAD v4
2	g.188989397del	CA2662286711	COL3A1	c.638del	dbSNP gnomAD v4
2	g.188989396G>A	CA007180	COL3A1	c.637G>A (p.Gly213Ser)	ClinVar dbSNP gnomAD v4
2	g.188989396G>C	CA349848739	COL3A1	c.637G>C (p.Gly213Arg)
2	g.188989396G=	CA1315396174	COL3A1	c.637G= (p.Gly213=)
2	g.188989396G>T	CA349848740	COL3A1	c.637G>T (p.Gly213Cys)	gnomAD v4
2	g.188989397G>A	CA349848742	COL3A1	c.638G>A (p.Gly213Asp)	ClinVar dbSNP gnomAD v4
2	g.188989397G>C	CA349848744	COL3A1	c.638G>C (p.Gly213Ala)
2	g.188989397G>T	CA349848745	COL3A1	c.638G>T (p.Gly213Val)	gnomAD v4
2	g.188989397_188989398delinsAA	CA658683277	COL3A1	c.638_639delinsAA (p.Gly213Glu)	ClinVar dbSNP
2	g.188989397_188989398delinsGC	CA1315396175	COL3A1	c.638_639delinsGC (p.Gly213=)
2	g.188989398C>A	CA430308984	COL3A1	c.639C>A (p.Gly213=)	ClinVar dbSNP gnomAD v4
2	g.188989398C>G	CA430308985	COL3A1	c.639C>G (p.Gly213=)
2	g.188989398C>T	CA430308986	COL3A1	c.639C>T (p.Gly213=)	gnomAD v4
2	g.188989400del	CA2662286718	COL3A1	c.641del (p.Pro214LeufsTer8)	gnomAD v4
2	g.188989399C>A	CA349848747	COL3A1	c.640C>A (p.Pro214Thr)	gnomAD v4
2	g.188989399C>G	CA349848749	COL3A1	c.640C>G (p.Pro214Ala)
2	g.188989399C>T	CA349848751	COL3A1	c.640C>T (p.Pro214Ser)
2	g.188989400C>A	CA349848752	COL3A1	c.641C>A (p.Pro214His)	gnomAD v4
2	g.188989400C=	CA1315396176	COL3A1	c.641C= (p.Pro214=)
2	g.188989400C>G	CA349848753	COL3A1	c.641C>G (p.Pro214Arg)
2	g.188989400C>T	CA62589457	COL3A1	c.641C>T (p.Pro214Leu)	ClinVar dbSNP gnomAD v4
2	g.188989401T>A	CA430308987	COL3A1	c.642T>A (p.Pro214=)	gnomAD v4
2	g.188989401T>C	CA430308989	COL3A1	c.642T>C (p.Pro214=)	dbSNP gnomAD v4
2	g.188989401T>G	CA430308988	COL3A1	c.642T>G (p.Pro214=)	gnomAD v4
2	g.188989401T=	CA1315396177	COL3A1	c.642T= (p.Pro214=)
2	g.188989402C>A	CA349848756	COL3A1	c.643C>A (p.Pro215Thr)
2	g.188989402C>G	CA349848757	COL3A1	c.643C>G (p.Pro215Ala)	gnomAD v4
2	g.188989402C>T	CA349848758	COL3A1	c.643C>T (p.Pro215Ser)	gnomAD v4

Number of alleles fetched