Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76347039G>A	CA385813494	BBS10	c.946C>T (p.Pro316Ser)
12	g.76347039G>C	CA385813490	BBS10	c.946C>G (p.Pro316Ala)	ClinVar dbSNP
12	g.76347039G>T	CA385813492	BBS10	c.946C>A (p.Pro316Thr)	gnomAD v4
12	g.76347042_76347044del	CA2575230730	BBS10	c.944_946del (p.Gln315del)
12	g.76347040T>A	CA385813496	BBS10	c.945A>T (p.Gln315His)
12	g.76347040T>C	CA481011628	BBS10	c.945A>G (p.Gln315=)	ClinVar dbSNP gnomAD v4
12	g.76347040T>G	CA385813499	BBS10	c.945A>C (p.Gln315His)
12	g.76347041T>A	CA385813500	BBS10	c.944A>T (p.Gln315Leu)
12	g.76347041T>C	CA385813502	BBS10	c.944A>G (p.Gln315Arg)	gnomAD v4
12	g.76347041T>G	CA385813504	BBS10	c.944A>C (p.Gln315Pro)
12	g.76347042G>A	CA385813506	BBS10	c.943C>T (p.Gln315Ter)	ClinVar dbSNP
12	g.76347042G>C	CA385813510	BBS10	c.943C>G (p.Gln315Glu)
12	g.76347042G=	CA2047353603	BBS10	c.943C= (p.Gln315=)
12	g.76347042G>T	CA385813508	BBS10	c.943C>A (p.Gln315Lys)
12	g.76347043T>A	CA385813512	BBS10	c.942A>T (p.Lys314Asn)
12	g.76347043T>C	CA6694262	BBS10	c.942A>G (p.Lys314=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347043T>G	CA385813514	BBS10	c.942A>C (p.Lys314Asn)
12	g.76347043T=	CA2047353604	BBS10	c.942A= (p.Lys314=)
12	g.76347044T>A	CA385813517	BBS10	c.941A>T (p.Lys314Ile)
12	g.76347044T>C	CA385813518	BBS10	c.941A>G (p.Lys314Arg)
12	g.76347044T>G	CA385813520	BBS10	c.941A>C (p.Lys314Thr)	COSMIC
12	g.76347045T>A	CA385813523	BBS10	c.940A>T (p.Lys314Ter)
12	g.76347045T>C	CA385813524	BBS10	c.940A>G (p.Lys314Glu)	dbSNP
12	g.76347045T>G	CA385813525	BBS10	c.940A>C (p.Lys314Gln)
12	g.76347046C>A	CA481011636	BBS10	c.939G>T (p.Val313=)
12	g.76347046C=	CA2047353605	BBS10	c.939G= (p.Val313=)
12	g.76347046C>G	CA481011637	BBS10	c.939G>C (p.Val313=)
12	g.76347046C>T	CA6694263	BBS10	c.939G>A (p.Val313=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347047A>C	CA385813533	BBS10	c.938T>G (p.Val313Gly)
12	g.76347047A>G	CA385813532	BBS10	c.938T>C (p.Val313Ala)
12	g.76347047A>T	CA385813529	BBS10	c.938T>A (p.Val313Glu)
12	g.76347048C>A	CA385813536	BBS10	c.937G>T (p.Val313Leu)
12	g.76347048C>G	CA385813538	BBS10	c.937G>C (p.Val313Leu)
12	g.76347048C>T	CA385813539	BBS10	c.937G>A (p.Val313Met)
12	g.76347049A=	CA2047353606	BBS10	c.936T= (p.Ser312=)
12	g.76347049A>C	CA385813540	BBS10	c.936T>G (p.Ser312Arg)
12	g.76347049A>G	CA6694264	BBS10	c.936T>C (p.Ser312=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347049A>T	CA385813542	BBS10	c.936T>A (p.Ser312Arg)
12	g.76347050C>A	CA385813545	BBS10	c.935G>T (p.Ser312Ile)
12	g.76347050C>G	CA385813547	BBS10	c.935G>C (p.Ser312Thr)
12	g.76347050C>T	CA385813548	BBS10	c.935G>A (p.Ser312Asn)
12	g.76347051T>A	CA385813554	BBS10	c.934A>T (p.Ser312Cys)
12	g.76347051T>C	CA6694265	BBS10	c.934A>G (p.Ser312Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347051T>G	CA385813556	BBS10	c.934A>C (p.Ser312Arg)
12	g.76347051T=	CA2047353607	BBS10	c.934A= (p.Ser312=)
12	g.76347052A>C	CA481011641	BBS10	c.933T>G (p.Ser311=)
12	g.76347052A>G	CA481011642	BBS10	c.933T>C (p.Ser311=)	ClinVar
12	g.76347052A>T	CA481011643	BBS10	c.933T>A (p.Ser311=)
12	g.76347053G>A	CA385813560	BBS10	c.932C>T (p.Ser311Phe)	ClinVar dbSNP gnomAD v4
12	g.76347053G>C	CA385813562	BBS10	c.932C>G (p.Ser311Cys)

Number of alleles fetched