Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76347726_76347728del	CA912974176	BBS10	c.261_263del (p.Ile88del)	dbSNP gnomAD v4
12	g.76347723_76347727delinsTAATA	CA2047353909	BBS10	c.258_262delinsTATTA (p.Phe86=)
12	g.76347723_76347728delinsTAATAA	CA2047353908	BBS10	c.257_262delinsTTATTA (p.Phe86=)
12	g.76347725_76347729del	CA16614066	BBS10	c.257_261del (p.Phe86TyrfsTer8)	ClinVar dbSNP
12	g.76347727_76347730del	CA2047353910	BBS10	c.258_261del (p.Phe86LeufsTer22)	dbSNP gnomAD v4
12	g.76347725A>C	CA385815893	BBS10	c.260T>G (p.Ile87Ser)
12	g.76347725A>G	CA385815894	BBS10	c.260T>C (p.Ile87Thr)
12	g.76347725A>T	CA385815895	BBS10	c.260T>A (p.Ile87Asn)
12	g.76347726T>A	CA385815896	BBS10	c.259A>T (p.Ile87Phe)
12	g.76347726T>C	CA385815897	BBS10	c.259A>G (p.Ile87Val)
12	g.76347726T>G	CA385815898	BBS10	c.259A>C (p.Ile87Leu)
12	g.76347726_76347727delinsTA	CA2047353911	BBS10	c.258_259delinsTA (p.Phe86=)
12	g.76347727A=	CA2047353913	BBS10	c.258T= (p.Phe86=)
12	g.76347727A>C	CA385815899	BBS10	c.258T>G (p.Phe86Leu)
12	g.76347727A>G	CA480794099	BBS10	c.258T>C (p.Phe86=)	dbSNP
12	g.76347727A>T	CA385815900	BBS10	c.258T>A (p.Phe86Leu)	gnomAD v4
12	g.76347729dup	CA912974177	BBS10	c.258dup (p.Ile87TyrfsTer9)
12	g.76347729del	CA2047353912	BBS10	c.258del (p.Phe86LeufsTer23)	ClinVar dbSNP
12	g.76347728A>C	CA385815901	BBS10	c.257T>G (p.Phe86Cys)	COSMIC
12	g.76347728A>G	CA385815902	BBS10	c.257T>C (p.Phe86Ser)
12	g.76347728A>T	CA385815903	BBS10	c.257T>A (p.Phe86Tyr)
12	g.76347728_76347734dup	CA658823437	BBS10	c.251_257dup (p.Phe86LeufsTer12)	ClinVar dbSNP
12	g.76347729A=	CA2047353914	BBS10	c.256T= (p.Phe86=)
12	g.76347729A>C	CA385815904	BBS10	c.256T>G (p.Phe86Val)
12	g.76347729A>G	CA385815905	BBS10	c.256T>C (p.Phe86Leu)	dbSNP gnomAD v2
12	g.76347729A>T	CA385815906	BBS10	c.256T>A (p.Phe86Ile)
12	g.76347730T>A	CA480794100	BBS10	c.255A>T (p.Thr85=)
12	g.76347730T>C	CA480794101	BBS10	c.255A>G (p.Thr85=)	dbSNP gnomAD v4
12	g.76347730T>G	CA480794102	BBS10	c.255A>C (p.Thr85=)
12	g.76347730T=	CA2047353915	BBS10	c.255A= (p.Thr85=)
12	g.76347730_76347731insC	CA6694377	BBS10	c.254_255insG (p.Phe86IlefsTer10)	ClinVar dbSNP ExAC gnomAD v2
12	g.76347731G>A	CA385815907	BBS10	c.254C>T (p.Thr85Ile)	gnomAD v4
12	g.76347731G>C	CA385815908	BBS10	c.254C>G (p.Thr85Arg)	gnomAD v4
12	g.76347731G=	CA2047353916	BBS10	c.254C= (p.Thr85=)
12	g.76347731G>T	CA6694378	BBS10	c.254C>A (p.Thr85Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347732T>A	CA385815909	BBS10	c.253A>T (p.Thr85Ser)
12	g.76347732T>C	CA385815910	BBS10	c.253A>G (p.Thr85Ala)	gnomAD v4
12	g.76347732T>G	CA385815911	BBS10	c.253A>C (p.Thr85Pro)	gnomAD v4
12	g.76347736del	CA2695199118	BBS10	c.253del (p.Thr85HisfsTer24)	ClinVar
12	g.76347733T>A	CA385815913	BBS10	c.252A>T (p.Lys84Asn)
12	g.76347733T>C	CA480794103	BBS10	c.252A>G (p.Lys84=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76347733T>G	CA385815912	BBS10	c.252A>C (p.Lys84Asn)
12	g.76347733T=	CA2047353917	BBS10	c.252A= (p.Lys84=)
12	g.76347734T>A	CA385815914	BBS10	c.251A>T (p.Lys84Ile)
12	g.76347734T>C	CA385815915	BBS10	c.251A>G (p.Lys84Arg)
12	g.76347734T>G	CA385815916	BBS10	c.251A>C (p.Lys84Thr)
12	g.76347735T>A	CA385815917	BBS10	c.250A>T (p.Lys84Ter)
12	g.76347735T>C	CA385815918	BBS10	c.250A>G (p.Lys84Glu)	dbSNP gnomAD v4
12	g.76347735T>G	CA385815919	BBS10	c.250A>C (p.Lys84Gln)
12	g.76347736T>A	CA480794104	BBS10	c.249A>T (p.Ala83=)

Number of alleles fetched