Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.188984947A=	CA1315394209	COL3A1	c.267A= (p.Pro89=) n.363A=
2	g.188984947A>C	CA430466676	COL3A1	c.267A>C (p.Pro89=) n.363A>C
2	g.188984947A>G	CA62585481	COL3A1	c.267A>G (p.Pro89=) n.363A>G	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.188984947A>T	CA430466677	COL3A1	c.267A>T (p.Pro89=) n.363A>T
2	g.188984948C>A	CA349847420	COL3A1	c.268C>A (p.Gln90Lys) n.364C>A
2	g.188984948C>G	CA349847422	COL3A1	c.268C>G (p.Gln90Glu) n.364C>G
2	g.188984948C>T	CA349847423	COL3A1	c.268C>T (p.Gln90Ter) n.364C>T
2	g.188984949A>C	CA349847425	COL3A1	c.269A>C (p.Gln90Pro) n.365A>C
2	g.188984949A>G	CA349847426	COL3A1	c.269A>G (p.Gln90Arg) n.365A>G	gnomAD v4
2	g.188984949A>T	CA349847427	COL3A1	c.269A>T (p.Gln90Leu) n.365A>T
2	g.188984950G>A	CA430466678	COL3A1	c.270G>A (p.Gln90=) n.366G>A
2	g.188984950G>C	CA349847429	COL3A1	c.270G>C (p.Gln90His) n.366G>C
2	g.188984950G>T	CA349847431	COL3A1	c.270G>T (p.Gln90His) n.366G>T	gnomAD v4
2	g.188984951C>A	CA349847433	COL3A1	c.271C>A (p.Pro91Thr) n.367C>A
2	g.188984951C>G	CA349847434	COL3A1	c.271C>G (p.Pro91Ala) n.367C>G
2	g.188984951C>T	CA349847435	COL3A1	c.271C>T (p.Pro91Ser) n.367C>T
2	g.188984951_188984952insAGTTGGAGGCTGTGGGCAAACTGCACAACATT	CA2753572392	COL3A1	c.271_272insAGTTGGAGGCTGTGGGCAAACTGCACAACATT (p.Pro91GlnfsTer?) n.367_368insAGTTGGAGGCTGTGGGCAAACTGCACAACATT
2	g.188984952C>A	CA349847439	COL3A1	c.272C>A (p.Pro91His) n.368C>A
2	g.188984952C=	CA1315394210	COL3A1	c.272C= (p.Pro91=) n.368C=
2	g.188984952C>G	CA349847437	COL3A1	c.272C>G (p.Pro91Arg) n.368C>G	gnomAD v4
2	g.188984952C>T	CA62585482	COL3A1	c.272C>T (p.Pro91Leu) n.368C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.188984953T>A	CA430466679	COL3A1	c.273T>A (p.Pro91=) n.369T>A
2	g.188984953T>C	CA430466680	COL3A1	c.273T>C (p.Pro91=) n.369T>C
2	g.188984953T>G	CA430466681	COL3A1	c.273T>G (p.Pro91=) n.369T>G
2	g.188984954C>A	CA349847440	COL3A1	c.274C>A (p.Pro92Thr) n.370C>A
2	g.188984954C=	CA1315394211	COL3A1	c.274C= (p.Pro92=) n.370C=
2	g.188984954C>G	CA349847442	COL3A1	c.274C>G (p.Pro92Ala) n.370C>G	ClinVar
2	g.188984954C>T	CA075579	COL3A1	c.274C>T (p.Pro92Ser) n.370C>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188984955C>A	CA349847444	COL3A1	c.275C>A (p.Pro92Gln) n.371C>A
2	g.188984955C=	CA1315394212	COL3A1	c.275C= (p.Pro92=) n.371C=
2	g.188984955C>G	CA349847445	COL3A1	c.275C>G (p.Pro92Arg) n.371C>G
2	g.188984955C>T	CA075585	COL3A1	c.275C>T (p.Pro92Leu) n.371C>T	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
2	g.188984956A>C	CA430466682	COL3A1	c.276A>C (p.Pro92=) n.372A>C
2	g.188984956A>G	CA430466683	COL3A1	c.276A>G (p.Pro92=) n.372A>G
2	g.188984956A>T	CA430466684	COL3A1	c.276A>T (p.Pro92=) n.372A>T
2	g.188984957A>C	CA349847447	COL3A1	c.277A>C (p.Thr93Pro) n.373A>C
2	g.188984957A>G	CA349847448	COL3A1	c.277A>G (p.Thr93Ala) n.373A>G
2	g.188984957A>T	CA349847450	COL3A1	c.277A>T (p.Thr93Ser) n.373A>T
2	g.188984958C>A	CA349847452	COL3A1	c.278C>A (p.Thr93Asn) n.374C>A	ClinVar dbSNP
2	g.188984958C>G	CA349847453	COL3A1	c.278C>G (p.Thr93Ser) n.374C>G
2	g.188984958C>T	CA349847455	COL3A1	c.278C>T (p.Thr93Ile) n.374C>T
2	g.188984959T>A	CA430466685	COL3A1	c.279T>A (p.Thr93=) n.375T>A
2	g.188984959T>C	CA430466686	COL3A1	c.279T>C (p.Thr93=) n.375T>C
2	g.188984959T>G	CA430466687	COL3A1	c.279T>G (p.Thr93=) n.375T>G
2	g.188984960G>A	CA349847456	COL3A1	c.280G>A (p.Ala94Thr) n.376G>A
2	g.188984960G>C	CA349847459	COL3A1	c.280G>C (p.Ala94Pro) n.376G>C
2	g.188984960G=	CA1315394213	COL3A1	c.280G= (p.Ala94=) n.376G=
2	g.188984960G>T	CA075602	COL3A1	c.280G>T (p.Ala94Ser) n.376G>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2	g.188984961C>A	CA349847460	COL3A1	c.281C>A (p.Ala94Asp) n.377C>A
2	g.188984961C>G	CA349847463	COL3A1	c.281C>G (p.Ala94Gly) n.377C>G

Number of alleles fetched