Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.188989409_188996315del	CA281702	COL3A1	c.650_1564-83del c.650_1663-83del	ClinVar
2	g.188991533_188991669del	CA2753572047	COL3A1	c.897+2_898del
2	g.188991591dup	CA1315396687	COL3A1	c.897+60dup (n.897+60dup)	dbSNP
2	g.188991588_188991606del	CA2577185241	COL3A1	c.897+57_898-63del (n.897+57_898-63del)
2	g.188991591A=	CA1315396688	COL3A1	c.897+60A= (n.897+60A=)
2	g.188991591A>G	CA62592869	COL3A1	c.897+60A>G (n.897+60A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188991592C=	CA1315396689	COL3A1	c.897+61C= (n.897+61C=)
2	g.188991592C>G	CA1040405452	COL3A1	c.897+61C>G (n.897+61C>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188991592C>T	CA2662287854	COL3A1	c.897+61C>T (n.897+61C>T)	gnomAD v4
2	g.188991593T>C	CA2662287855	COL3A1	c.897+62T>C (n.897+62T>C)	gnomAD v4
2	g.188991596_188991598delinsCTT	CA1315396690	COL3A1	c.897+65_897+67delinsCTT (n.897+65_897+67delinsCTT)
2	g.188991598_188991599del	CA62592874	COL3A1	c.897+67_897+68del (n.897+67_897+68del)	dbSNP gnomAD v3 gnomAD v4
2	g.188991600G>A	CA62592898	COL3A1	c.898-69G>A (n.898-69G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991600G>C	CA62592904	COL3A1	c.898-69G>C (n.898-69G>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188991600G=	CA1315396692	COL3A1	c.898-69G= (n.898-69G=)
2	g.188991601C=	CA1315396693	COL3A1	c.898-68C= (n.898-68C=)
2	g.188991601C>G	CA62592910	COL3A1	c.898-68C>G (n.898-68C>G)	dbSNP
2	g.188991601C>T	CA1315396694	COL3A1	c.898-68C>T (n.898-68C>T)	dbSNP gnomAD v4
2	g.188991602T>G	CA2541590577	COL3A1	c.898-67T>G (n.898-67T>G)
2	g.188991603C>A	CA2526215303	COL3A1	c.898-66C>A (n.898-66C>A)
2	g.188991603C=	CA1315396696	COL3A1	c.898-66C= (n.898-66C=)
2	g.188991603C>T	CA1315396697	COL3A1	c.898-66C>T (n.898-66C>T)	dbSNP gnomAD v4
2	g.188991605dup	CA2662287857	COL3A1	c.898-64dup (n.898-64dup)	gnomAD v4
2	g.188991605C=	CA1315396698	COL3A1	c.898-64C= (n.898-64C=)
2	g.188991605C>T	CA1040405460	COL3A1	c.898-64C>T (n.898-64C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188991606_188991607delinsAC	CA1315396699	COL3A1	c.898-63_898-62delinsAC (n.898-63_898-62delinsAC)
2	g.188991607C>A	CA62592916	COL3A1	c.898-62C>A (n.898-62C>A)	dbSNP gnomAD v4
2	g.188991607C=	CA1315396700	COL3A1	c.898-62C= (n.898-62C=)
2	g.188991607C>T	CA762192981	COL3A1	c.898-62C>T (n.898-62C>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188991610del	CA1315396701	COL3A1	c.898-59del (n.898-59del)	dbSNP
2	g.188991608C>A	CA2577185242	COL3A1	c.898-61C>A (n.898-61C>A)
2	g.188991609C>A	CA62592920	COL3A1	c.898-60C>A (n.898-60C>A)	dbSNP
2	g.188991609C=	CA1315396702	COL3A1	c.898-60C= (n.898-60C=)
2	g.188991610C=	CA1315396703	COL3A1	c.898-59C= (n.898-59C=)
2	g.188991610C>T	CA2662287858	COL3A1	c.898-59C>T (n.898-59C>T)	gnomAD v4
2	g.188991612_188991633dup	CA1315396705	COL3A1	c.898-57_898-36dup (n.898-57_898-36dup)	dbSNP
2	g.188991612A>G	CA2662287859	COL3A1	c.898-57A>G (n.898-57A>G)	gnomAD v4
2	g.188991612_188991614del	CA2505740970	COL3A1	c.898-57_898-55del (n.898-57_898-55del)
2	g.188991615G>A	CA2662287860	COL3A1	c.898-54G>A (n.898-54G>A)	gnomAD v4
2	g.188991616T>A	CA2547253335	COL3A1	c.898-53T>A (n.898-53T>A)
2	g.188991616T>C	CA62592932	COL3A1	c.898-53T>C (n.898-53T>C)	dbSNP gnomAD v3 gnomAD v4
2	g.188991616T=	CA1315396706	COL3A1	c.898-53T= (n.898-53T=)
2	g.188991620del	CA2499686281	COL3A1	c.898-49del (n.898-49del)
2	g.188991620T>G	CA538441145	COL3A1	c.898-49T>G (n.898-49T>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991620T=	CA1315396707	COL3A1	c.898-49T= (n.898-49T=)
2	g.188991622C=	CA1315396709	COL3A1	c.898-47C= (n.898-47C=)
2	g.188991622C>T	CA538441146	COL3A1	c.898-47C>T (n.898-47C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991623A=	CA1315396710	COL3A1	c.898-46A= (n.898-46A=)
2	g.188991623A>G	CA077058	COL3A1	c.898-46A>G (n.898-46A>G)	dbSNP ExAC gnomAD v2
2	g.188991624C=	CA1315396712	COL3A1	c.898-45C= (n.898-45C=)
2	g.188991624C>T	CA1315396713	COL3A1	c.898-45C>T (n.898-45C>T)	dbSNP gnomAD v4
2	g.188991625A=	CA1315396715	COL3A1	c.898-44A= (n.898-44A=)
2	g.188991625A>G	CA2662287861	COL3A1	c.898-44A>G (n.898-44A>G)	gnomAD v4
2	g.188991625A>T	CA077056	COL3A1	c.898-44A>T (n.898-44A>T)	dbSNP ExAC gnomAD v4
2	g.188991626T>A	CA2701024342	COL3A1	c.898-43T>A (n.898-43T>A)	dbSNP
2	g.188991626T>C	CA077054	COL3A1	c.898-43T>C (n.898-43T>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991626T=	CA1315396717	COL3A1	c.898-43T= (n.898-43T=)
2	g.188991627G>C	CA077052	COL3A1	c.898-42G>C (n.898-42G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991627G=	CA1315396719	COL3A1	c.898-42G= (n.898-42G=)
2	g.188991629C>T	CA2662287862	COL3A1	c.898-40C>T (n.898-40C>T)	gnomAD v4
2	g.188991630A=	CA1315396721	COL3A1	c.898-39A= (n.898-39A=)
2	g.188991630A>G	CA762192995	COL3A1	c.898-39A>G (n.898-39A>G)	dbSNP gnomAD v3 gnomAD v4
2	g.188991631A>G	CA2662287863	COL3A1	c.898-38A>G (n.898-38A>G)	gnomAD v4
2	g.188991632G>A	CA2662287864	COL3A1	c.898-37G>A (n.898-37G>A)	gnomAD v4
2	g.188991634T>A	CA2701316514	COL3A1	c.898-35T>A (n.898-35T>A)	dbSNP
2	g.188991635T>C	CA2662287865	COL3A1	c.898-34T>C (n.898-34T>C)	gnomAD v4
2	g.188991636A>C	CA2662287866	COL3A1	c.898-33A>C (n.898-33A>C)	gnomAD v4
2	g.188991637G>C	CA2662287867	COL3A1	c.898-32G>C (n.898-32G>C)	gnomAD v4
2	g.188991639G=	CA1315396723	COL3A1	c.898-30G= (n.898-30G=)
2	g.188991639G>T	CA1315396724	COL3A1	c.898-30G>T (n.898-30G>T)	dbSNP gnomAD v3 gnomAD v4
2	g.188991643A=	CA1315396726	COL3A1	c.898-26A= (n.898-26A=)
2	g.188991643A>C	CA62592977	COL3A1	c.898-26A>C (n.898-26A>C)	dbSNP gnomAD v4
2	g.188991644A>G	CA2662287868	COL3A1	c.898-25A>G (n.898-25A>G)	gnomAD v4
2	g.188991645C=	CA1315396728	COL3A1	c.898-24C= (n.898-24C=)
2	g.188991645C>G	CA2662287869	COL3A1	c.898-24C>G (n.898-24C>G)	gnomAD v4
2	g.188991645C>T	CA1315396729	COL3A1	c.898-24C>T (n.898-24C>T)	dbSNP
2	g.188991647A=	CA1315396731	COL3A1	c.898-22A= (n.898-22A=)
2	g.188991647A>G	CA077050	COL3A1	c.898-22A>G (n.898-22A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991648T>A	CA077048	COL3A1	c.898-21T>A (n.898-21T>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991648T>C	CA2662287870	COL3A1	c.898-21T>C (n.898-21T>C)	gnomAD v4
2	g.188991648T=	CA1315396733	COL3A1	c.898-21T= (n.898-21T=)
2	g.188991649A=	CA1315396736	COL3A1	c.898-20A= (n.898-20A=)
2	g.188991649A>G	CA077046	COL3A1	c.898-20A>G (n.898-20A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991650T>C	CA62592983	COL3A1	c.898-19T>C (n.898-19T>C)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.188991650T=	CA1315396739	COL3A1	c.898-19T= (n.898-19T=)
2	g.188991651T>A	CA2662287871	COL3A1	c.898-18T>A (n.898-18T>A)	gnomAD v4
2	g.188991653C>A	CA2507017742	COL3A1	c.898-16C>A (n.898-16C>A)	gnomAD v4
2	g.188991653C>T	CA2577185243	COL3A1	c.898-16C>T (n.898-16C>T)	dbSNP
2	g.188991654A>C	CA2701316626	COL3A1	c.898-15A>C (n.898-15A>C)	dbSNP
2	g.188991654A>G	CA2701316516	COL3A1	c.898-15A>G (n.898-15A>G)	dbSNP
2	g.188991655A=	CA1315396743	COL3A1	c.898-14A= (n.898-14A=)
2	g.188991655A>C	CA2662287872	COL3A1	c.898-14A>C (n.898-14A>C)	gnomAD v4
2	g.188991655A>G	CA077044	COL3A1	c.898-14A>G (n.898-14A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991661C>A	CA077061	COL3A1	c.898-8C>A (n.898-8C>A)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991661C=	CA1315396752	COL3A1	c.898-8C= (n.898-8C=)
2	g.188991661C>T	CA762193012	COL3A1	c.898-8C>T (n.898-8C>T)	ClinVar dbSNP gnomAD v4
2	g.188991663C>G	CA2701316660	COL3A1	c.898-6C>G (n.898-6C>G)	dbSNP
2	g.188991664T>C	CA077059	COL3A1	c.898-5T>C (n.898-5T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991664T=	CA1315396755	COL3A1	c.898-5T= (n.898-5T=)
2	g.188991665G>A	CA538441147	COL3A1	c.898-4G>A (n.898-4G>A)	dbSNP gnomAD v2 gnomAD v4
2	g.188991665G=	CA1315396760	COL3A1	c.898-4G= (n.898-4G=)
2	g.188991665G>T	CA538441148	COL3A1	c.898-4G>T (n.898-4G>T)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991667A=	CA1315396762	COL3A1	c.898-2A= (n.898-2A=)
2	g.188991667A>C	CA349849965	COL3A1	c.898-2A>C (n.898-2A>C)
2	g.188991667A>G	CA349849966	COL3A1	c.898-2A>G (n.898-2A>G)	ClinVar dbSNP
2	g.188991667A>T	CA349849967	COL3A1	c.898-2A>T (n.898-2A>T)
2	g.188991668G>A	CA349849968	COL3A1	c.898-1G>A (n.898-1G>A)	ClinVar
2	g.188991668G>C	CA007525	COL3A1	c.898-1G>C (n.898-1G>C)	ClinVar dbSNP
2	g.188991668G=	CA1315396768	COL3A1	c.898-1G= (n.898-1G=)
2	g.188991668G>T	CA349849969	COL3A1	c.898-1G>T (n.898-1G>T)	COSMIC COSMIC
2	g.188991669G>A	CA349849970	COL3A1	c.898G>A (p.Gly300Ser)	gnomAD v4
2	g.188991669G>C	CA007534	COL3A1	c.898G>C (p.Gly300Arg)	ClinVar dbSNP
2	g.188991669G=	CA1315396774	COL3A1	c.898G= (p.Gly300=)
2	g.188991669G>T	CA349849971	COL3A1	c.898G>T (p.Gly300Cys)
2	g.188991670G>A	CA007546	COL3A1	c.899G>A (p.Gly300Asp)	ClinVar dbSNP
2	g.188991670G>C	CA349849972	COL3A1	c.899G>C (p.Gly300Ala)
2	g.188991670G=	CA1315396777	COL3A1	c.899G= (p.Gly300=)
2	g.188991670G>T	CA007555	COL3A1	c.899G>T (p.Gly300Val)	ClinVar dbSNP
2	g.188991671T>A	CA430309187	COL3A1	c.900T>A (p.Gly300=)
2	g.188991671T>C	CA430309188	COL3A1	c.900T>C (p.Gly300=)
2	g.188991671T>G	CA430309189	COL3A1	c.900T>G (p.Gly300=)	gnomAD v4
2	g.188991672C>A	CA077063	COL3A1	c.901C>A (p.Pro301Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991672C=	CA1315396784	COL3A1	c.901C= (p.Pro301=)
2	g.188991672C>G	CA077065	COL3A1	c.901C>G (p.Pro301Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991672C>T	CA349849973	COL3A1	c.901C>T (p.Pro301Ser)
2	g.188991673C>A	CA349849974	COL3A1	c.902C>A (p.Pro301Gln)
2	g.188991673C=	CA1315396791	COL3A1	c.902C= (p.Pro301=)
2	g.188991673C>G	CA349849975	COL3A1	c.902C>G (p.Pro301Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.188991673C>T	CA349849976	COL3A1	c.902C>T (p.Pro301Leu)	ClinVar dbSNP
2	g.188991674A=	CA1315396793	COL3A1	c.903A= (p.Pro301=) c.1A=
2	g.188991674A>C	CA430309190	COL3A1	c.903A>C (p.Pro301=) c.1A>C
2	g.188991674A>G	CA430309192	COL3A1	c.903A>G (p.Pro301=) c.1A>G	gnomAD v4
2	g.188991674A>T	CA430309191	COL3A1	c.903A>T (p.Pro301=) c.1A>T	dbSNP
2	g.188991675A>C	CA430309193	COL3A1	c.904A>C (p.Arg302=) c.2A>C
2	g.188991675A>G	CA349849977	COL3A1	c.904A>G (p.Arg302Gly) c.2A>G	ClinVar
2	g.188991675A>T	CA349849978	COL3A1	c.904A>T (p.Arg302Ter) c.2A>T
2	g.188991676G>A	CA349849979	COL3A1	c.905G>A (p.Arg302Lys) c.3G>A
2	g.188991676G>C	CA349849980	COL3A1	c.905G>C (p.Arg302Thr) c.3G>C
2	g.188991676G>T	CA349849981	COL3A1	c.905G>T (p.Arg302Ile) c.3G>T
2	g.188991677A>C	CA349849982	COL3A1	c.906A>C (p.Arg302Ser) c.4A>C
2	g.188991677A>G	CA430309194	COL3A1	c.906A>G (p.Arg302=) c.4A>G
2	g.188991677A>T	CA349849983	COL3A1	c.906A>T (p.Arg302Ser) c.4A>T
2	g.188991678G>A	CA007568	COL3A1	c.907G>A (p.Gly303Arg) c.5G>A	ClinVar dbSNP
2	g.188991678G>C	CA349849985	COL3A1	c.907G>C (p.Gly303Arg) c.5G>C
2	g.188991678G=	CA1315396797	COL3A1	c.907G= (p.Gly303=) c.5G=
2	g.188991678G>T	CA349849984	COL3A1	c.907G>T (p.Gly303Trp) c.5G>T
2	g.188991681dup	CA2739292302	COL3A1	c.910dup (p.Ala304GlyfsTer4) c.8dup
2	g.188991679G>A	CA349849986	COL3A1	c.908G>A (p.Gly303Glu) c.6G>A	COSMIC COSMIC
2	g.188991679G>C	CA349849987	COL3A1	c.908G>C (p.Gly303Ala) c.6G>C
2	g.188991679G>T	CA349849988	COL3A1	c.908G>T (p.Gly303Val) c.6G>T
2	g.188991680G>A	CA077067	COL3A1	c.909G>A (p.Gly303=) c.7G>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991680G>C	CA430309195	COL3A1	c.909G>C (p.Gly303=) c.7G>C
2	g.188991680G=	CA1315396801	COL3A1	c.909G= (p.Gly303=) c.7G=
2	g.188991680G>T	CA430309196	COL3A1	c.909G>T (p.Gly303=) c.7G>T
2	g.188991681G>A	CA349849989	COL3A1	c.910G>A (p.Ala304Thr) c.8G>A	gnomAD v4
2	g.188991681G>C	CA077071	COL3A1	c.910G>C (p.Ala304Pro) c.8G>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.188991681G=	CA1315396804	COL3A1	c.910G= (p.Ala304=) c.8G=
2	g.188991681G>T	CA349849990	COL3A1	c.910G>T (p.Ala304Ser) c.8G>T	ClinVar
2	g.188991681_188991698del	CA645527369	COL3A1	c.910_927del (p.Ala304_Gly309del) c.8_25del	COSMIC
2	g.188991682C>A	CA007579	COL3A1	c.911C>A (p.Ala304Asp) c.9C>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991682C=	CA1315396807	COL3A1	c.911C= (p.Ala304=) c.9C=
2	g.188991682C>G	CA349849991	COL3A1	c.911C>G (p.Ala304Gly) c.9C>G
2	g.188991682C>T	CA349849992	COL3A1	c.911C>T (p.Ala304Val) c.9C>T	ClinVar dbSNP
2	g.188991683T>A	CA430309199	COL3A1	c.912T>A (p.Ala304=) c.10T>A
2	g.188991683T>C	CA430309197	COL3A1	c.912T>C (p.Ala304=) c.10T>C	dbSNP gnomAD v2 gnomAD v4
2	g.188991683T>G	CA430309198	COL3A1	c.912T>G (p.Ala304=) c.10T>G
2	g.188991683T=	CA1315396809	COL3A1	c.912T= (p.Ala304=) c.10T=
2	g.188991684C>A	CA349849993	COL3A1	c.913C>A (p.Pro305Thr) c.11C>A
2	g.188991684C=	CA1315396811	COL3A1	c.913C= (p.Pro305=) c.11C=
2	g.188991684C>G	CA349849994	COL3A1	c.913C>G (p.Pro305Ala) c.11C>G
2	g.188991684C>T	CA349849995	COL3A1	c.913C>T (p.Pro305Ser) c.11C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.188991685C>A	CA349849997	COL3A1	c.914C>A (p.Pro305His) c.12C>A
2	g.188991685C>G	CA349849998	COL3A1	c.914C>G (p.Pro305Arg) c.12C>G
2	g.188991685C>T	CA349849996	COL3A1	c.914C>T (p.Pro305Leu) c.12C>T
2	g.188991686T>A	CA430309200	COL3A1	c.915T>A (p.Pro305=) c.13T>A
2	g.188991686T>C	CA430309201	COL3A1	c.915T>C (p.Pro305=) c.13T>C	gnomAD v4
2	g.188991686T>G	CA430309202	COL3A1	c.915T>G (p.Pro305=) c.13T>G	ClinVar dbSNP gnomAD v4
2	g.188991687G>A	CA349849999	COL3A1	c.916G>A (p.Gly306Ser) c.14G>A
2	g.188991687G>C	CA349850000	COL3A1	c.916G>C (p.Gly306Arg) c.14G>C
2	g.188991687G>T	CA349850001	COL3A1	c.916G>T (p.Gly306Cys) c.14G>T
2	g.188991688G>A	CA349850002	COL3A1	c.917G>A (p.Gly306Asp) c.15G>A
2	g.188991688G>C	CA349850003	COL3A1	c.917G>C (p.Gly306Ala) c.15G>C
2	g.188991688G>T	CA349850004	COL3A1	c.917G>T (p.Gly306Val) c.15G>T
2	g.188991689T>A	CA430309204	COL3A1	c.918T>A (p.Gly306=) c.16T>A
2	g.188991689T>C	CA430309203	COL3A1	c.918T>C (p.Gly306=) c.16T>C
2	g.188991689T>G	CA430309205	COL3A1	c.918T>G (p.Gly306=) c.16T>G

Number of alleles fetched