Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76347054A=	CA2047353609	BBS10	c.931T= (p.Ser311=)
12	g.76347054A>C	CA251748	BBS10	c.931T>G (p.Ser311Ala)	ClinVar dbSNP gnomAD v4
12	g.76347054A>G	CA385813566	BBS10	c.931T>C (p.Ser311Pro)	gnomAD v4
12	g.76347054A>T	CA385813568	BBS10	c.931T>A (p.Ser311Thr)
12	g.76347055T>A	CA481011646	BBS10	c.930A>T (p.Ile310=)
12	g.76347055T>C	CA385813570	BBS10	c.930A>G (p.Ile310Met)	ClinVar
12	g.76347055T>G	CA481011647	BBS10	c.930A>C (p.Ile310=)
12	g.76347055dup	CA2796591357	BBS10	c.930dup (p.Ser311IlefsTer2)
12	g.76347056A>C	CA385813575	BBS10	c.929T>G (p.Ile310Arg)
12	g.76347056A>G	CA385813573	BBS10	c.929T>C (p.Ile310Thr)	gnomAD v4
12	g.76347056A>T	CA385813572	BBS10	c.929T>A (p.Ile310Lys)
12	g.76347057T>A	CA385813577	BBS10	c.928A>T (p.Ile310Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.76347057T>C	CA385813579	BBS10	c.928A>G (p.Ile310Val)	dbSNP gnomAD v4
12	g.76347057T>G	CA385813581	BBS10	c.928A>C (p.Ile310Leu)
12	g.76347057T=	CA2047353610	BBS10	c.928A= (p.Ile310=)
12	g.76347058G>A	CA481011650	BBS10	c.927C>T (p.Leu309=)	gnomAD v4
12	g.76347058G>C	CA481011651	BBS10	c.927C>G (p.Leu309=)	ClinVar gnomAD v4
12	g.76347058G>T	CA481011652	BBS10	c.927C>A (p.Leu309=)
12	g.76347059A=	CA2047353611	BBS10	c.926T= (p.Leu309=)
12	g.76347059A>C	CA385813584	BBS10	c.926T>G (p.Leu309Arg)
12	g.76347059A>G	CA385813588	BBS10	c.926T>C (p.Leu309Pro)	dbSNP gnomAD v2 gnomAD v4
12	g.76347059A>T	CA385813591	BBS10	c.926T>A (p.Leu309His)
12	g.76347060G>A	CA385813594	BBS10	c.925C>T (p.Leu309Phe)	ClinVar dbSNP gnomAD v4 COSMIC
12	g.76347060G>C	CA385813597	BBS10	c.925C>G (p.Leu309Val)
12	g.76347060G>T	CA385813595	BBS10	c.925C>A (p.Leu309Ile)
12	g.76347061C>A	CA385813599	BBS10	c.924G>T (p.Leu308Phe)	ClinVar gnomAD v4
12	g.76347061C>G	CA385813600	BBS10	c.924G>C (p.Leu308Phe)
12	g.76347061C>T	CA481011657	BBS10	c.924G>A (p.Leu308=)
12	g.76347062A>C	CA385813603	BBS10	c.923T>G (p.Leu308Trp)
12	g.76347062A>G	CA385813606	BBS10	c.923T>C (p.Leu308Ser)	ClinVar gnomAD v4
12	g.76347062A>T	CA385813604	BBS10	c.923T>A (p.Leu308Ter)
12	g.76347063A>C	CA385813609	BBS10	c.922T>G (p.Leu308Val)
12	g.76347063A>G	CA481011660	BBS10	c.922T>C (p.Leu308=)
12	g.76347063A>T	CA385813610	BBS10	c.922T>A (p.Leu308Met)
12	g.76347064T>A	CA385813613	BBS10	c.921A>T (p.Lys307Asn)
12	g.76347064T>C	CA481011661	BBS10	c.921A>G (p.Lys307=)
12	g.76347064T>G	CA385813615	BBS10	c.921A>C (p.Lys307Asn)
12	g.76347065T>A	CA385813618	BBS10	c.920A>T (p.Lys307Ile)
12	g.76347065T>C	CA385813619	BBS10	c.920A>G (p.Lys307Arg)
12	g.76347065T>G	CA385813621	BBS10	c.920A>C (p.Lys307Thr)	COSMIC
12	g.76347066T>A	CA385813623	BBS10	c.919A>T (p.Lys307Ter)
12	g.76347066T>C	CA385813624	BBS10	c.919A>G (p.Lys307Glu)
12	g.76347066T>G	CA385813626	BBS10	c.919A>C (p.Lys307Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347066T=	CA2047353612	BBS10	c.919A= (p.Lys307=)
12	g.76347067T>A	CA481011663	BBS10	c.918A>T (p.Val306=)
12	g.76347067T>C	CA481011665	BBS10	c.918A>G (p.Val306=)
12	g.76347067T>G	CA481011664	BBS10	c.918A>C (p.Val306=)
12	g.76347068A>C	CA385813628	BBS10	c.917T>G (p.Val306Gly)
12	g.76347068A>G	CA385813630	BBS10	c.917T>C (p.Val306Ala)
12	g.76347068A>T	CA385813632	BBS10	c.917T>A (p.Val306Glu)

Number of alleles fetched