Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.188988189_188990680delinsTATGCAAAATCAAAC	CA913190219	COL3A1	c.582+55_798+320delinsTATGCAAAATCAAAC	ClinVar
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
2	g.188989403C>A	CA349848759	COL3A1	c.644C>A (p.Pro215Gln)	gnomAD v4
2	g.188989403C=	CA1315396178	COL3A1	c.644C= (p.Pro215=)
2	g.188989403C>G	CA349848762	COL3A1	c.644C>G (p.Pro215Arg)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.188989403C>T	CA349848760	COL3A1	c.644C>T (p.Pro215Leu)	dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2	g.188989404A=	CA1315396179	COL3A1	c.645A= (p.Pro215=)
2	g.188989404A>C	CA430308990	COL3A1	c.645A>C (p.Pro215=)	ClinVar dbSNP
2	g.188989404A>G	CA62589466	COL3A1	c.645A>G (p.Pro215=)	dbSNP gnomAD v2 gnomAD v4
2	g.188989404A>T	CA430308991	COL3A1	c.645A>T (p.Pro215=)
2	g.188989407_188989424del	CA2499215527	COL3A1	c.648_665del (p.Pro217_Gly222del)	ClinVar dbSNP
2	g.188989405G>A	CA349848764	COL3A1	c.646G>A (p.Gly216Arg)
2	g.188989405G>C	CA349848767	COL3A1	c.646G>C (p.Gly216Arg)
2	g.188989405G>T	CA349848766	COL3A1	c.646G>T (p.Gly216Ter)	gnomAD v4
2	g.188989406G>A	CA007188	COL3A1	c.647G>A (p.Gly216Glu)	ClinVar dbSNP
2	g.188989406G>C	CA349848768	COL3A1	c.647G>C (p.Gly216Ala)
2	g.188989406G=	CA1315396180	COL3A1	c.647G= (p.Gly216=)
2	g.188989406G>T	CA349848769	COL3A1	c.647G>T (p.Gly216Val)
2	g.188989407A>C	CA430308994	COL3A1	c.648A>C (p.Gly216=)
2	g.188989407A>G	CA430308992	COL3A1	c.648A>G (p.Gly216=)
2	g.188989407A>T	CA430308993	COL3A1	c.648A>T (p.Gly216=)
2	g.188989409_188996315del	CA281702	COL3A1	c.650_1564-83del c.650_1663-83del	ClinVar
2	g.188989408C>A	CA349848772	COL3A1	c.649C>A (p.Pro217Thr)
2	g.188989408C>G	CA349848773	COL3A1	c.649C>G (p.Pro217Ala)
2	g.188989408C>T	CA349848774	COL3A1	c.649C>T (p.Pro217Ser)	gnomAD v4
2	g.188989409C>A	CA349848775	COL3A1	c.650C>A (p.Pro217His)	gnomAD v4
2	g.188989409C>G	CA349848776	COL3A1	c.650C>G (p.Pro217Arg)
2	g.188989409C>T	CA349848778	COL3A1	c.650C>T (p.Pro217Leu)
2	g.188989410T>A	CA430308995	COL3A1	c.651T>A (p.Pro217=)
2	g.188989410T>C	CA430308996	COL3A1	c.651T>C (p.Pro217=)
2	g.188989410T>G	CA430308997	COL3A1	c.651T>G (p.Pro217=)
2	g.188989411C>A	CA349848779	COL3A1	c.652C>A (p.Pro218Thr)
2	g.188989411C>G	CA349848781	COL3A1	c.652C>G (p.Pro218Ala)
2	g.188989411C>T	CA349848783	COL3A1	c.652C>T (p.Pro218Ser)
2	g.188989412C>A	CA349848787	COL3A1	c.653C>A (p.Pro218His)	gnomAD v4
2	g.188989412C=	CA1315396181	COL3A1	c.653C= (p.Pro218=)
2	g.188989412C>G	CA349848784	COL3A1	c.653C>G (p.Pro218Arg)	dbSNP
2	g.188989412C>T	CA349848785	COL3A1	c.653C>T (p.Pro218Leu)
2	g.188989413T>A	CA430308998	COL3A1	c.654T>A (p.Pro218=)
2	g.188989413T>C	CA430308999	COL3A1	c.654T>C (p.Pro218=)
2	g.188989413T>G	CA430309000	COL3A1	c.654T>G (p.Pro218=)
2	g.188989414G>A	CA349848789	COL3A1	c.655G>A (p.Gly219Ser)
2	g.188989414G>C	CA349848790	COL3A1	c.655G>C (p.Gly219Arg)
2	g.188989414G=	CA1315396182	COL3A1	c.655G= (p.Gly219=)
2	g.188989414G>T	CA007196	COL3A1	c.655G>T (p.Gly219Cys)	ClinVar dbSNP
2	g.188989415G>A	CA007202	COL3A1	c.656G>A (p.Gly219Asp)	ClinVar dbSNP
2	g.188989415G>C	CA007209	COL3A1	c.656G>C (p.Gly219Ala)	ClinVar dbSNP gnomAD v4
2	g.188989415G=	CA1315396183	COL3A1	c.656G= (p.Gly219=)
2	g.188989415G>T	CA349848794	COL3A1	c.656G>T (p.Gly219Val)	gnomAD v4
2	g.188989416T>A	CA430309003	COL3A1	c.657T>A (p.Gly219=)
2	g.188989416T>C	CA430309002	COL3A1	c.657T>C (p.Gly219=)
2	g.188989416T>G	CA430309001	COL3A1	c.657T>G (p.Gly219=)
2	g.188989417G>A	CA349848795	COL3A1	c.658G>A (p.Ala220Thr)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.188989417G>C	CA349848796	COL3A1	c.658G>C (p.Ala220Pro)	gnomAD v4
2	g.188989417G=	CA1315396184	COL3A1	c.658G= (p.Ala220=)
2	g.188989417G>T	CA349848798	COL3A1	c.658G>T (p.Ala220Ser)
2	g.188989418_188989423del	CA2586965480	COL3A1	c.659_664del (p.Ala220_Ile221del)
2	g.188989418C>A	CA349848800	COL3A1	c.659C>A (p.Ala220Asp)	gnomAD v4
2	g.188989418C=	CA1315396185	COL3A1	c.659C= (p.Ala220=)
2	g.188989418C>G	CA349848802	COL3A1	c.659C>G (p.Ala220Gly)
2	g.188989418C>T	CA62589496	COL3A1	c.659C>T (p.Ala220Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.188989419T>A	CA430309004	COL3A1	c.660T>A (p.Ala220=)
2	g.188989419T>C	CA430309005	COL3A1	c.660T>C (p.Ala220=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.188989419T>G	CA430309006	COL3A1	c.660T>G (p.Ala220=)	dbSNP gnomAD v2 gnomAD v4
2	g.188989419T=	CA1315396186	COL3A1	c.660T= (p.Ala220=)
2	g.188989421_188989422dup	CA2739278522	COL3A1	c.662_663dup (p.Gly222Ter)	ClinVar
2	g.188989420A=	CA1315396187	COL3A1	c.661A= (p.Ile221=)
2	g.188989420A>C	CA349848804	COL3A1	c.661A>C (p.Ile221Leu)
2	g.188989420A>G	CA349848807	COL3A1	c.661A>G (p.Ile221Val)	ClinVar dbSNP gnomAD v4
2	g.188989420A>T	CA349848806	COL3A1	c.661A>T (p.Ile221Leu)
2	g.188989421T>A	CA349848809	COL3A1	c.662T>A (p.Ile221Lys)
2	g.188989421T>C	CA349848810	COL3A1	c.662T>C (p.Ile221Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.188989421T>G	CA349848812	COL3A1	c.662T>G (p.Ile221Arg)
2	g.188989421T=	CA1315396188	COL3A1	c.662T= (p.Ile221=)
2	g.188989422A>C	CA430309007	COL3A1	c.663A>C (p.Ile221=)	gnomAD v4
2	g.188989422A>G	CA349848813	COL3A1	c.663A>G (p.Ile221Met)	gnomAD v4
2	g.188989422A>T	CA430309008	COL3A1	c.663A>T (p.Ile221=)
2	g.188989423G>A	CA349848815	COL3A1	c.664G>A (p.Gly222Ser)	dbSNP
2	g.188989423G>C	CA349848816	COL3A1	c.664G>C (p.Gly222Arg)
2	g.188989423G=	CA1315396189	COL3A1	c.664G= (p.Gly222=)
2	g.188989423G>T	CA349848818	COL3A1	c.664G>T (p.Gly222Cys)	gnomAD v4
2	g.188989424G>A	CA007217	COL3A1	c.665G>A (p.Gly222Asp)	ClinVar dbSNP gnomAD v4
2	g.188989424G>C	CA349848820	COL3A1	c.665G>C (p.Gly222Ala)
2	g.188989424G=	CA1315396190	COL3A1	c.665G= (p.Gly222=)
2	g.188989424G>T	CA007226	COL3A1	c.665G>T (p.Gly222Val)	ClinVar dbSNP
2	g.188989425T>A	CA430309009	COL3A1	c.666T>A (p.Gly222=)
2	g.188989425T>C	CA430309010	COL3A1	c.666T>C (p.Gly222=)
2	g.188989425T>G	CA430309011	COL3A1	c.666T>G (p.Gly222=)
2	g.188989426C>A	CA349848825	COL3A1	c.667C>A (p.Pro223Thr)	gnomAD v4
2	g.188989426C=	CA1315396191	COL3A1	c.667C= (p.Pro223=)
2	g.188989426C>G	CA349848823	COL3A1	c.667C>G (p.Pro223Ala)	ClinVar dbSNP
2	g.188989426C>T	CA349848821	COL3A1	c.667C>T (p.Pro223Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.188989427C>A	CA62589520	COL3A1	c.668C>A (p.Pro223Gln)	dbSNP gnomAD v4
2	g.188989427C=	CA1315396192	COL3A1	c.668C= (p.Pro223=)
2	g.188989427C>G	CA349848827	COL3A1	c.668C>G (p.Pro223Arg)
2	g.188989427C>T	CA349848828	COL3A1	c.668C>T (p.Pro223Leu)
2	g.188989428A=	CA1315396193	COL3A1	c.669A= (p.Pro223=)
2	g.188989428A>C	CA62589526	COL3A1	c.669A>C (p.Pro223=)	dbSNP
2	g.188989428A>G	CA430309012	COL3A1	c.669A>G (p.Pro223=)	dbSNP gnomAD v4
2	g.188989428A>T	CA430309013	COL3A1	c.669A>T (p.Pro223=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188989429T>A	CA349848830	COL3A1	c.670T>A (p.Ser224Thr)
2	g.188989429T>C	CA349848832	COL3A1	c.670T>C (p.Ser224Pro)	ClinVar dbSNP
2	g.188989429T>G	CA349848833	COL3A1	c.670T>G (p.Ser224Ala)	dbSNP
2	g.188989429T=	CA1315396194	COL3A1	c.670T= (p.Ser224=)
2	g.188989430C>A	CA349848835	COL3A1	c.671C>A (p.Ser224Tyr)
2	g.188989430C>G	CA349848837	COL3A1	c.671C>G (p.Ser224Cys)
2	g.188989430C>T	CA349848838	COL3A1	c.671C>T (p.Ser224Phe)	gnomAD v4
2	g.188989431T>A	CA430309014	COL3A1	c.672T>A (p.Ser224=)
2	g.188989431T>C	CA430309015	COL3A1	c.672T>C (p.Ser224=)	gnomAD v4
2	g.188989431T>G	CA430309016	COL3A1	c.672T>G (p.Ser224=)
2	g.188989432G>A	CA349848839	COL3A1	c.673G>A (p.Gly225Ser)
2	g.188989432G>C	CA349848840	COL3A1	c.673G>C (p.Gly225Arg)
2	g.188989432G>T	CA349848842	COL3A1	c.673G>T (p.Gly225Cys)	gnomAD v4
2	g.188989433G>A	CA349848844	COL3A1	c.674G>A (p.Gly225Asp)	ClinVar dbSNP gnomAD v4
2	g.188989433G>C	CA007233	COL3A1	c.674G>C (p.Gly225Ala)	ClinVar dbSNP
2	g.188989433G=	CA1315396195	COL3A1	c.674G= (p.Gly225=)
2	g.188989433G>T	CA007242	COL3A1	c.674G>T (p.Gly225Val)	ClinVar dbSNP
2	g.188989434T>A	CA430309017	COL3A1	c.675T>A (p.Gly225=)	dbSNP
2	g.188989434T>C	CA430309018	COL3A1	c.675T>C (p.Gly225=)	gnomAD v4
2	g.188989434T>G	CA430309019	COL3A1	c.675T>G (p.Gly225=)
2	g.188989434T=	CA1315396196	COL3A1	c.675T= (p.Gly225=)
2	g.188989435C>A	CA349848848	COL3A1	c.676C>A (p.Pro226Thr)	gnomAD v4
2	g.188989435C=	CA1315396197	COL3A1	c.676C= (p.Pro226=)
2	g.188989435C>G	CA076775	COL3A1	c.676C>G (p.Pro226Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188989435C>T	CA349848847	COL3A1	c.676C>T (p.Pro226Ser)	ClinVar gnomAD v4
2	g.188989436C>A	CA349848850	COL3A1	c.677C>A (p.Pro226His)	gnomAD v4
2	g.188989436C=	CA1315396198	COL3A1	c.677C= (p.Pro226=)
2	g.188989436C>G	CA349848852	COL3A1	c.677C>G (p.Pro226Arg)
2	g.188989436C>T	CA349848853	COL3A1	c.677C>T (p.Pro226Leu)	ClinVar dbSNP COSMIC COSMIC
2	g.188989437T>A	CA430309022	COL3A1	c.678T>A (p.Pro226=)
2	g.188989437T>C	CA430309021	COL3A1	c.678T>C (p.Pro226=)	ClinVar dbSNP gnomAD v2
2	g.188989437T>G	CA430309020	COL3A1	c.678T>G (p.Pro226=)
2	g.188989437T=	CA1315396199	COL3A1	c.678T= (p.Pro226=)
2	g.188989438G>A	CA349848858	COL3A1	c.679G>A (p.Ala227Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.188989438G>C	CA349848856	COL3A1	c.679G>C (p.Ala227Pro)	COSMIC
2	g.188989438G=	CA1315396200	COL3A1	c.679G= (p.Ala227=)
2	g.188989438G>T	CA349848854	COL3A1	c.679G>T (p.Ala227Ser)	ClinVar gnomAD v4
2	g.188989439C>A	CA349848859	COL3A1	c.680C>A (p.Ala227Asp)	gnomAD v4
2	g.188989439C>G	CA349848861	COL3A1	c.680C>G (p.Ala227Gly)
2	g.188989439C>T	CA349848862	COL3A1	c.680C>T (p.Ala227Val)	gnomAD v4
2	g.188989440T>A	CA430309023	COL3A1	c.681T>A (p.Ala227=)
2	g.188989440T>C	CA62589530	COL3A1	c.681T>C (p.Ala227=)	dbSNP gnomAD v4
2	g.188989440T>G	CA430309024	COL3A1	c.681T>G (p.Ala227=)	gnomAD v4
2	g.188989440T=	CA1315396201	COL3A1	c.681T= (p.Ala227=)
2	g.188989441G>A	CA349848864	COL3A1	c.682G>A (p.Gly228Arg)
2	g.188989441G>C	CA007250	COL3A1	c.682G>C (p.Gly228Arg)	ClinVar dbSNP
2	g.188989441G=	CA1315396202	COL3A1	c.682G= (p.Gly228=)
2	g.188989441G>T	CA349848866	COL3A1	c.682G>T (p.Gly228Ter)	COSMIC COSMIC
2	g.188989442del	CA2662286782	COL3A1	c.683del (p.Gly228GlufsTer?)	gnomAD v4
2	g.188989442G>A	CA007257	COL3A1	c.683G>A (p.Gly228Glu)	ClinVar dbSNP COSMIC
2	g.188989442G>C	CA349848870	COL3A1	c.683G>C (p.Gly228Ala)
2	g.188989442G=	CA1315396203	COL3A1	c.683G= (p.Gly228=)
2	g.188989442G>T	CA349848868	COL3A1	c.683G>T (p.Gly228Val)
2	g.188989443A>C	CA430309025	COL3A1	c.684A>C (p.Gly228=)
2	g.188989443A>G	CA430309027	COL3A1	c.684A>G (p.Gly228=)	gnomAD v4
2	g.188989443A>T	CA430309026	COL3A1	c.684A>T (p.Gly228=)
2	g.188989444A>C	CA349848872	COL3A1	c.685A>C (p.Lys229Gln)
2	g.188989444A>G	CA349848873	COL3A1	c.685A>G (p.Lys229Glu)
2	g.188989444A>T	CA349848875	COL3A1	c.685A>T (p.Lys229Ter)
2	g.188989445A>C	CA349848876	COL3A1	c.686A>C (p.Lys229Thr)
2	g.188989445A>G	CA349848878	COL3A1	c.686A>G (p.Lys229Arg)
2	g.188989445A>T	CA349848879	COL3A1	c.686A>T (p.Lys229Ile)
2	g.188989446A>C	CA349848881	COL3A1	c.687A>C (p.Lys229Asn)
2	g.188989446A>G	CA430309028	COL3A1	c.687A>G (p.Lys229=)	gnomAD v4
2	g.188989446A>T	CA349848882	COL3A1	c.687A>T (p.Lys229Asn)	ClinVar
2	g.188989447G>A	CA349848884	COL3A1	c.688G>A (p.Asp230Asn)
2	g.188989447G>C	CA349848886	COL3A1	c.688G>C (p.Asp230His)
2	g.188989447G>T	CA349848887	COL3A1	c.688G>T (p.Asp230Tyr)
2	g.188989448A=	CA1315396205	COL3A1	c.689A= (p.Asp230=)
2	g.188989448A>C	CA349848891	COL3A1	c.689A>C (p.Asp230Ala)
2	g.188989448A>G	CA349848890	COL3A1	c.689A>G (p.Asp230Gly)	dbSNP
2	g.188989448A>T	CA349848888	COL3A1	c.689A>T (p.Asp230Val)
2	g.188989448_188989449delinsAT	CA1315396204	COL3A1	c.689_690delinsAT (p.Asp230=)
2	g.188989449del	CA076792	COL3A1	c.690del (p.Asp230GlufsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188989449T>A	CA349848892	COL3A1	c.690T>A (p.Asp230Glu)
2	g.188989449T>C	CA430309029	COL3A1	c.690T>C (p.Asp230=)	ClinVar dbSNP gnomAD v3 gnomAD v4
2	g.188989449T>G	CA349848894	COL3A1	c.690T>G (p.Asp230Glu)	gnomAD v4
2	g.188989449T=	CA1315396206	COL3A1	c.690T= (p.Asp230=)
2	g.188989450G>A	CA007265	COL3A1	c.690+1G>A (n.690+1G>A)	ClinVar dbSNP gnomAD v4
2	g.188989450G>C	CA349848897	COL3A1	c.690+1G>C (n.690+1G>C)	gnomAD v4
2	g.188989450G=	CA1315396207	COL3A1	c.690+1G= (n.690+1G=)
2	g.188989450G>T	CA349848898	COL3A1	c.690+1G>T (n.690+1G>T)	gnomAD v4
2	g.188989451T>A	CA007273	COL3A1	c.690+2T>A (n.690+2T>A)	ClinVar dbSNP
2	g.188989451T>C	CA349848900	COL3A1	c.690+2T>C (n.690+2T>C)
2	g.188989451T>G	CA007280	COL3A1	c.690+2T>G (n.690+2T>G)	ClinVar dbSNP
2	g.188989451T=	CA1315396208	COL3A1	c.690+2T= (n.690+2T=)

Number of alleles fetched