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.188990106G>A	CA007294	COL3A1	c.701G>A (p.Gly234Asp)	ClinVar dbSNP
2	g.188990106G>C	CA349848983	COL3A1	c.701G>C (p.Gly234Ala)
2	g.188990106G=	CA1315396639	COL3A1	c.701G= (p.Gly234=)
2	g.188990106G>T	CA349848985	COL3A1	c.701G>T (p.Gly234Val)
2	g.188990107T>A	CA430309037	COL3A1	c.702T>A (p.Gly234=)
2	g.188990107T>C	CA430309038	COL3A1	c.702T>C (p.Gly234=)	gnomAD v4
2	g.188990107T>G	CA430309039	COL3A1	c.702T>G (p.Gly234=)
2	g.188990108A>C	CA430309040	COL3A1	c.703A>C (p.Arg235=)
2	g.188990108A>G	CA349848988	COL3A1	c.703A>G (p.Arg235Gly)
2	g.188990108A>T	CA349848987	COL3A1	c.703A>T (p.Arg235Ter)
2	g.188990109G>A	CA349848989	COL3A1	c.704G>A (p.Arg235Lys)
2	g.188990109G>C	CA349848990	COL3A1	c.704G>C (p.Arg235Thr)	dbSNP gnomAD v3 gnomAD v4
2	g.188990109G=	CA1315396641	COL3A1	c.704G= (p.Arg235=)
2	g.188990109G>T	CA076825	COL3A1	c.704G>T (p.Arg235Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990110A>C	CA349848992	COL3A1	c.705A>C (p.Arg235Ser)
2	g.188990110A>G	CA430309041	COL3A1	c.705A>G (p.Arg235=)
2	g.188990110A>T	CA349848994	COL3A1	c.705A>T (p.Arg235Ser)
2	g.188990111C>A	CA349848996	COL3A1	c.706C>A (p.Pro236Thr)
2	g.188990111C=	CA1315396642	COL3A1	c.706C= (p.Pro236=)
2	g.188990111C>G	CA349848997	COL3A1	c.706C>G (p.Pro236Ala)
2	g.188990111C>T	CA007305	COL3A1	c.706C>T (p.Pro236Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.188990112C>A	CA349848998	COL3A1	c.707C>A (p.Pro236His)
2	g.188990112C=	CA1315396644	COL3A1	c.707C= (p.Pro236=)
2	g.188990112C>G	CA349848999	COL3A1	c.707C>G (p.Pro236Arg)	ClinVar dbSNP
2	g.188990112C>T	CA349849000	COL3A1	c.707C>T (p.Pro236Leu)	ClinVar
2	g.188990113C>A	CA430309042	COL3A1	c.708C>A (p.Pro236=)
2	g.188990113C=	CA1315396646	COL3A1	c.708C= (p.Pro236=)
2	g.188990113C>G	CA076829	COL3A1	c.708C>G (p.Pro236=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188990113C>T	CA430309043	COL3A1	c.708C>T (p.Pro236=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.188990114G>A	CA007314	COL3A1	c.709G>A (p.Gly237Arg)	ClinVar dbSNP gnomAD v4
2	g.188990114G>C	CA349849002	COL3A1	c.709G>C (p.Gly237Arg)
2	g.188990114G=	CA1315396649	COL3A1	c.709G= (p.Gly237=)
2	g.188990114G>T	CA349849001	COL3A1	c.709G>T (p.Gly237Ter)
2	g.188990115G>A	CA349849003	COL3A1	c.710G>A (p.Gly237Glu)
2	g.188990115G>C	CA349849004	COL3A1	c.710G>C (p.Gly237Ala)
2	g.188990115G>T	CA349849005	COL3A1	c.710G>T (p.Gly237Val)
2	g.188990116A>C	CA430309044	COL3A1	c.711A>C (p.Gly237=)
2	g.188990116A>G	CA430309045	COL3A1	c.711A>G (p.Gly237=)	ClinVar dbSNP
2	g.188990116A>T	CA430309046	COL3A1	c.711A>T (p.Gly237=)
2	g.188990117C>A	CA430309047	COL3A1	c.712C>A (p.Arg238=)
2	g.188990117C=	CA1315396651	COL3A1	c.712C= (p.Arg238=)
2	g.188990117C>G	CA349849006	COL3A1	c.712C>G (p.Arg238Gly)
2	g.188990117C>T	CA349849007	COL3A1	c.712C>T (p.Arg238Ter)	ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2	g.188990118G>A	CA076831	COL3A1	c.713G>A (p.Arg238Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2	g.188990118G>C	CA349849009	COL3A1	c.713G>C (p.Arg238Pro)
2	g.188990118G=	CA1315396653	COL3A1	c.713G= (p.Arg238=)
2	g.188990118G>T	CA349849008	COL3A1	c.713G>T (p.Arg238Leu)
2	g.188990119A>C	CA430309048	COL3A1	c.714A>C (p.Arg238=)

Number of alleles fetched