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.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
2	g.188991690G>A	CA349850005	COL3A1	c.919G>A (p.Glu307Lys) c.17G>A	dbSNP gnomAD v2 gnomAD v4
2	g.188991690G>C	CA349850006	COL3A1	c.919G>C (p.Glu307Gln) c.17G>C
2	g.188991690G=	CA1315396813	COL3A1	c.919G= (p.Glu307=) c.17G=
2	g.188991690G>T	CA349850007	COL3A1	c.919G>T (p.Glu307Ter) c.17G>T	gnomAD v4
2	g.188991691A>C	CA349850008	COL3A1	c.920A>C (p.Glu307Ala) c.18A>C
2	g.188991691A>G	CA349850009	COL3A1	c.920A>G (p.Glu307Gly) c.18A>G
2	g.188991691A>T	CA349850010	COL3A1	c.920A>T (p.Glu307Val) c.18A>T
2	g.188991692G>A	CA430309206	COL3A1	c.921G>A (p.Glu307=) c.19G>A
2	g.188991692G>C	CA349850011	COL3A1	c.921G>C (p.Glu307Asp) c.19G>C
2	g.188991692G>T	CA349850012	COL3A1	c.921G>T (p.Glu307Asp) c.19G>T
2	g.188991693C>A	CA430309207	COL3A1	c.922C>A (p.Arg308=) c.20C>A
2	g.188991693C>G	CA349850014	COL3A1	c.922C>G (p.Arg308Gly) c.20C>G
2	g.188991693C>T	CA349850013	COL3A1	c.922C>T (p.Arg308Ter) c.20C>T	ClinVar gnomAD v4 COSMIC COSMIC
2	g.188991694G>A	CA077076	COL3A1	c.923G>A (p.Arg308Gln) c.21G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2	g.188991694G>C	CA349850015	COL3A1	c.923G>C (p.Arg308Pro) c.21G>C
2	g.188991694G=	CA1315396814	COL3A1	c.923G= (p.Arg308=) c.21G=
2	g.188991694G>T	CA349850016	COL3A1	c.923G>T (p.Arg308Leu) c.21G>T
2	g.188991695A>C	CA430309208	COL3A1	c.924A>C (p.Arg308=) c.22A>C
2	g.188991695A>G	CA430309209	COL3A1	c.924A>G (p.Arg308=) c.22A>G
2	g.188991695A>T	CA430309210	COL3A1	c.924A>T (p.Arg308=) c.22A>T
2	g.188991696G>A	CA349850017	COL3A1	c.925G>A (p.Gly309Arg) c.23G>A
2	g.188991696G>C	CA349850018	COL3A1	c.925G>C (p.Gly309Arg) c.23G>C
2	g.188991696G>T	CA349850019	COL3A1	c.925G>T (p.Gly309Ter) c.23G>T
2	g.188991697G>A	CA007592	COL3A1	c.926G>A (p.Gly309Glu) c.24G>A	ClinVar dbSNP
2	g.188991697G>C	CA349850020	COL3A1	c.926G>C (p.Gly309Ala) c.24G>C
2	g.188991697G=	CA1315396816	COL3A1	c.926G= (p.Gly309=) c.24G=
2	g.188991697G>T	CA349850021	COL3A1	c.926G>T (p.Gly309Val) c.24G>T
2	g.188991698A>C	CA430309211	COL3A1	c.927A>C (p.Gly309=) c.25A>C
2	g.188991698A>G	CA430309212	COL3A1	c.927A>G (p.Gly309=) c.25A>G	ClinVar
2	g.188991698A>T	CA430309213	COL3A1	c.927A>T (p.Gly309=) c.25A>T
2	g.188991699C>A	CA430309214	COL3A1	c.928C>A (p.Arg310=) c.26C>A
2	g.188991699C=	CA1315396819	COL3A1	c.928C= (p.Arg310=) c.26C=
2	g.188991699C>G	CA349850022	COL3A1	c.928C>G (p.Arg310Gly) c.26C>G
2	g.188991699C>T	CA077079	COL3A1	c.928C>T (p.Arg310Trp) c.26C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2	g.188991700G>A	CA077081	COL3A1	c.929G>A (p.Arg310Gln) c.27G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.188991700G>C	CA349850023	COL3A1	c.929G>C (p.Arg310Pro) c.27G>C
2	g.188991700G=	CA1315396821	COL3A1	c.929G= (p.Arg310=) c.27G=
2	g.188991700G>T	CA349850024	COL3A1	c.929G>T (p.Arg310Leu) c.27G>T	dbSNP gnomAD v2 gnomAD v4
2	g.188991701G>A	CA430309215	COL3A1	c.930G>A (p.Arg310=) c.28G>A	gnomAD v4
2	g.188991701G>C	CA430309216	COL3A1	c.930G>C (p.Arg310=) c.28G>C
2	g.188991701G>T	CA430309217	COL3A1	c.930G>T (p.Arg310=) c.28G>T
2	g.188991702C>A	CA349850027	COL3A1	c.931C>A (p.Pro311Thr) c.29C>A	gnomAD v4
2	g.188991702C>G	CA349850026	COL3A1	c.931C>G (p.Pro311Ala) c.29C>G
2	g.188991702C>T	CA349850025	COL3A1	c.931C>T (p.Pro311Ser) c.29C>T	ClinVar dbSNP
2	g.188991703C>A	CA349850028	COL3A1	c.932C>A (p.Pro311Gln) c.30C>A
2	g.188991703C>G	CA349850030	COL3A1	c.932C>G (p.Pro311Arg) c.30C>G
2	g.188991703C>T	CA349850029	COL3A1	c.932C>T (p.Pro311Leu) c.30C>T
2	g.188991704A>C	CA430309220	COL3A1	c.933A>C (p.Pro311=) c.31A>C
2	g.188991704A>G	CA430309219	COL3A1	c.933A>G (p.Pro311=) c.31A>G
2	g.188991704A>T	CA430309218	COL3A1	c.933A>T (p.Pro311=) c.31A>T
2	g.188991705G>A	CA349850031	COL3A1	c.934G>A (p.Gly312Arg) c.32G>A
2	g.188991705G>C	CA349850033	COL3A1	c.934G>C (p.Gly312Arg) c.32G>C
2	g.188991705G>T	CA349850032	COL3A1	c.934G>T (p.Gly312Ter) c.32G>T
2	g.188991706G>A	CA349850034	COL3A1	c.935G>A (p.Gly312Glu) c.33G>A
2	g.188991706G>C	CA349850036	COL3A1	c.935G>C (p.Gly312Ala) c.33G>C
2	g.188991706G>T	CA349850035	COL3A1	c.935G>T (p.Gly312Val) c.33G>T
2	g.188991707A=	CA1315396823	COL3A1	c.936A= (p.Gly312=) c.34A=
2	g.188991707A>C	CA430309221	COL3A1	c.936A>C (p.Gly312=) c.34A>C
2	g.188991707A>G	CA430309222	COL3A1	c.936A>G (p.Gly312=) c.34A>G
2	g.188991707A>T	CA430309223	COL3A1	c.936A>T (p.Gly312=) c.34A>T
2	g.188991708C>A	CA077086	COL3A1	c.937C>A (p.Leu313Ile) c.35C>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991708C=	CA1315396825	COL3A1	c.937C= (p.Leu313=) c.35C=
2	g.188991708C>G	CA349850037	COL3A1	c.937C>G (p.Leu313Val) c.35C>G
2	g.188991708C>T	CA349850038	COL3A1	c.937C>T (p.Leu313Phe) c.35C>T
2	g.188991708_188991709dup	CA077085	COL3A1	c.937_938dup (p.Pro314PhefsTer?) c.35_36dup	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991709T>A	CA349850039	COL3A1	c.938T>A (p.Leu313His) c.36T>A
2	g.188991709T>C	CA62593019	COL3A1	c.938T>C (p.Leu313Pro) c.36T>C	dbSNP
2	g.188991709T>G	CA349850040	COL3A1	c.938T>G (p.Leu313Arg) c.36T>G	gnomAD v4
2	g.188991709T=	CA1315396828	COL3A1	c.938T= (p.Leu313=) c.36T=
2	g.188991710T>A	CA077089	COL3A1	c.939T>A (p.Leu313=) c.37T>A	dbSNP ExAC gnomAD v4
2	g.188991710T>C	CA430309225	COL3A1	c.939T>C (p.Leu313=) c.37T>C
2	g.188991710T>G	CA430309224	COL3A1	c.939T>G (p.Leu313=) c.37T>G
2	g.188991710T=	CA1315396830	COL3A1	c.939T= (p.Leu313=) c.37T=
2	g.188991711C>A	CA349850041	COL3A1	c.940C>A (p.Pro314Thr) c.38C>A
2	g.188991711C=	CA1315396832	COL3A1	c.940C= (p.Pro314=) c.38C=
2	g.188991711C>G	CA349850042	COL3A1	c.940C>G (p.Pro314Ala) c.38C>G	dbSNP gnomAD v3 gnomAD v4
2	g.188991711C>T	CA349850043	COL3A1	c.940C>T (p.Pro314Ser) c.38C>T	gnomAD v4 COSMIC COSMIC
2	g.188991712C>A	CA349850044	COL3A1	c.941C>A (p.Pro314His) c.39C>A
2	g.188991712C>G	CA349850045	COL3A1	c.941C>G (p.Pro314Arg) c.39C>G	ClinVar
2	g.188991712C>T	CA349850046	COL3A1	c.941C>T (p.Pro314Leu) c.39C>T
2	g.188991713T>A	CA430309226	COL3A1	c.942T>A (p.Pro314=) c.40T>A
2	g.188991713T>C	CA430309227	COL3A1	c.942T>C (p.Pro314=) c.40T>C
2	g.188991713T>G	CA430309228	COL3A1	c.942T>G (p.Pro314=) c.40T>G
2	g.188991714G>A	CA349850047	COL3A1	c.943G>A (p.Gly315Arg) c.41G>A
2	g.188991714G>C	CA349850049	COL3A1	c.943G>C (p.Gly315Arg) c.41G>C
2	g.188991714G>T	CA349850048	COL3A1	c.943G>T (p.Gly315Trp) c.41G>T
2	g.188991715G>A	CA349850050	COL3A1	c.944G>A (p.Gly315Glu) c.42G>A
2	g.188991715G>C	CA007600	COL3A1	c.944G>C (p.Gly315Ala) c.42G>C	ClinVar dbSNP gnomAD v4
2	g.188991715G=	CA1315396834	COL3A1	c.944G= (p.Gly315=) c.42G=
2	g.188991715G>T	CA16610591	COL3A1	c.944G>T (p.Gly315Val) c.42G>T	ClinVar dbSNP
2	g.188991716G>A	CA077091	COL3A1	c.945G>A (p.Gly315=) c.43G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991716G>C	CA430309229	COL3A1	c.945G>C (p.Gly315=) c.43G>C	gnomAD v4
2	g.188991716G=	CA1315396839	COL3A1	c.945G= (p.Gly315=) c.43G=
2	g.188991716G>T	CA430309230	COL3A1	c.945G>T (p.Gly315=) c.43G>T	gnomAD v4
2	g.188991716_188991731delinsGGCTGCAGTGAGTATA	CA1315396837	COL3A1	c.945_951+9delinsGGCTGCAGTGAGTATA c.43_49+9delinsGGCTGCAGTGAGTATA
2	g.188991717G>A	CA349850051	COL3A1	c.946G>A (p.Ala316Thr) c.44G>A
2	g.188991717G>C	CA349850052	COL3A1	c.946G>C (p.Ala316Pro) c.44G>C	dbSNP gnomAD v3 gnomAD v4
2	g.188991717G=	CA1315396844	COL3A1	c.946G= (p.Ala316=) c.44G=
2	g.188991717G>T	CA62593048	COL3A1	c.946G>T (p.Ala316Ser) c.44G>T	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.188991717_188991718delinsGC	CA1315396842	COL3A1	c.946_947delinsGC (p.Ala316=) c.44_45delinsGC
2	g.188991722_188991736del	CA285849	COL3A1	c.951_951+14del c.49_49+14del	ClinVar dbSNP
2	g.188991718del	CA077094	COL3A1	c.947del (p.Ala316ValfsTer?) c.45del	dbSNP ExAC
2	g.188991718C>A	CA349850053	COL3A1	c.947C>A (p.Ala316Asp) c.45C>A
2	g.188991718C>G	CA349850054	COL3A1	c.947C>G (p.Ala316Gly) c.45C>G
2	g.188991718C>T	CA349850055	COL3A1	c.947C>T (p.Ala316Val) c.45C>T	ClinVar dbSNP gnomAD v4
2	g.188991719del	CA349850056	COL3A1	c.948del (p.Ala317GlnfsTer?) c.46del
2	g.188991719T>A	CA430309231	COL3A1	c.948T>A (p.Ala316=) c.46T>A	ClinVar dbSNP gnomAD v4
2	g.188991719T>C	CA430309232	COL3A1	c.948T>C (p.Ala316=) c.46T>C
2	g.188991719T>G	CA430309233	COL3A1	c.948T>G (p.Ala316=) c.46T>G
2	g.188991719T=	CA1315396846	COL3A1	c.948T= (p.Ala316=) c.46T=
2	g.188991720G>A	CA349850058	COL3A1	c.949G>A (p.Ala317Thr) c.47G>A
2	g.188991720G>C	CA349850059	COL3A1	c.949G>C (p.Ala317Pro) c.47G>C
2	g.188991720G=	CA1315396847	COL3A1	c.949G= (p.Ala317=) c.47G=
2	g.188991720G>T	CA349850057	COL3A1	c.949G>T (p.Ala317Ser) c.47G>T	dbSNP
2	g.188991721C>A	CA349850060	COL3A1	c.950C>A (p.Ala317Glu) c.48C>A
2	g.188991721C>G	CA349850061	COL3A1	c.950C>G (p.Ala317Gly) c.48C>G
2	g.188991721C>T	CA349850062	COL3A1	c.950C>T (p.Ala317Val) c.48C>T
2	g.188991722A>C	CA430309234	COL3A1	c.951A>C (p.Ala317=) c.49A>C
2	g.188991722A>G	CA430309235	COL3A1	c.951A>G (p.Ala317=) c.49A>G
2	g.188991722A>T	CA430309236	COL3A1	c.951A>T (p.Ala317=) c.49A>T
2	g.188991723G>A	CA007607	COL3A1	c.951+1G>A (n.951+1G>A) c.49+1G>A	ClinVar dbSNP
2	g.188991723G>C	CA349850063	COL3A1	c.951+1G>C (n.951+1G>C) c.49+1G>C
2	g.188991723G=	CA1315396849	COL3A1	c.951+1G= (n.951+1G=) c.49+1G=
2	g.188991723G>T	CA349850064	COL3A1	c.951+1G>T (n.951+1G>T) c.49+1G>T
2	g.188991724T>A	CA007616	COL3A1	c.951+2T>A (n.951+2T>A) c.49+2T>A	ClinVar dbSNP
2	g.188991724T>C	CA007623	COL3A1	c.951+2T>C (n.951+2T>C) c.49+2T>C	ClinVar dbSNP
2	g.188991724T>G	CA349850065	COL3A1	c.951+2T>G (n.951+2T>G) c.49+2T>G
2	g.188991724T=	CA1315396852	COL3A1	c.951+2T= (n.951+2T=) c.49+2T=
2	g.188991724_188991726delinsTGA	CA1315396856	COL3A1	c.951+2_951+4delinsTGA (n.951+2_951+4delinsTGA) c.49+2_49+4delinsTGA
2	g.188991725G=	CA1315396864	COL3A1	c.951+3G= (n.951+3G=) c.49+3G=
2	g.188991725G>T	CA007635	COL3A1	c.951+3G>T (n.951+3G>T) c.49+3G>T	ClinVar dbSNP
2	g.188991726_188991727del	CA913189391	COL3A1	c.951+4_951+5del (n.951+4_951+5del) c.49+4_49+5del	ClinVar dbSNP
2	g.188991726A=	CA1315396870	COL3A1	c.951+4A= (n.951+4A=) c.49+4A=
2	g.188991726A>C	CA2662287885	COL3A1	c.951+4A>C (n.951+4A>C) c.49+4A>C	gnomAD v4
2	g.188991726A>G	CA2586965496	COL3A1	c.951+4A>G (n.951+4A>G) c.49+4A>G
2	g.188991726A>T	CA007643	COL3A1	c.951+4A>T (n.951+4A>T) c.49+4A>T	ClinVar dbSNP
2	g.188991727G>A	CA007651	COL3A1	c.951+5G>A (n.951+5G>A) c.49+5G>A	ClinVar dbSNP
2	g.188991727G>C	CA2586965497	COL3A1	c.951+5G>C (n.951+5G>C) c.49+5G>C
2	g.188991727G=	CA1315396875	COL3A1	c.951+5G= (n.951+5G=) c.49+5G=
2	g.188991727_188991728insGTTAATAA	CA1315396891	COL3A1	c.951+5_951+6insGTTAATAA (n.951+5_951+6insGTTAATAA) c.49+5_49+6insGTTAATAA	dbSNP
2	g.188991728T>A	CA007659	COL3A1	c.951+6T>A (n.951+6T>A) c.49+6T>A	ClinVar dbSNP
2	g.188991728T>C	CA007669	COL3A1	c.951+6T>C (n.951+6T>C) c.49+6T>C	ClinVar dbSNP
2	g.188991728T>G	CA1315396897	COL3A1	c.951+6T>G (n.951+6T>G) c.49+6T>G	dbSNP
2	g.188991728T=	CA1315396892	COL3A1	c.951+6T= (n.951+6T=) c.49+6T=
2	g.188991729A=	CA1315396900	COL3A1	c.951+7A= (n.951+7A=) c.49+7A=
2	g.188991729A>G	CA1040405522	COL3A1	c.951+7A>G (n.951+7A>G) c.49+7A>G	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.188991730T>A	CA1315396903	COL3A1	c.951+8T>A (n.951+8T>A) c.49+8T>A	dbSNP
2	g.188991730T>C	CA077112	COL3A1	c.951+8T>C (n.951+8T>C) c.49+8T>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188991730T=	CA1315396902	COL3A1	c.951+8T= (n.951+8T=) c.49+8T=
2	g.188991730_188991731insTCTT	CA2508953320	COL3A1	c.951+8_951+9insTCTT (n.951+8_951+9insTCTT) c.49+8_49+9insTCTT
2	g.188991731A>T	CA2701316794	COL3A1	c.951+9A>T (n.951+9A>T) c.49+9A>T	dbSNP
2	g.188991732del	CA2559470187	COL3A1	c.951+10del (n.951+10del) c.49+10del
2	g.188991732G>A	CA1315396908	COL3A1	c.951+10G>A (n.951+10G>A) c.49+10G>A	dbSNP gnomAD v4
2	g.188991732G>C	CA077096	COL3A1	c.951+10G>C (n.951+10G>C) c.49+10G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188991732G=	CA1315396907	COL3A1	c.951+10G= (n.951+10G=) c.49+10G=
2	g.188991732G>T	CA538441149	COL3A1	c.951+10G>T (n.951+10G>T) c.49+10G>T	dbSNP gnomAD v2

Number of alleles fetched