Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76346352A=	CA2047353266	BBS10	c.1633T= (p.Ser545=)
12	g.76346352A>C	CA385810721	BBS10	c.1633T>G (p.Ser545Ala)
12	g.76346352A>G	CA385810722	BBS10	c.1633T>C (p.Ser545Pro)
12	g.76346352A>T	CA6694133	BBS10	c.1633T>A (p.Ser545Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346353A>C	CA385810724	BBS10	c.1632T>G (p.Asn544Lys)
12	g.76346353A>G	CA481010590	BBS10	c.1632T>C (p.Asn544=)
12	g.76346353A>T	CA385810726	BBS10	c.1632T>A (p.Asn544Lys)
12	g.76346354T>A	CA385810731	BBS10	c.1631A>T (p.Asn544Ile)
12	g.76346354T>C	CA179766	BBS10	c.1631A>G (p.Asn544Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346354T>G	CA385810728	BBS10	c.1631A>C (p.Asn544Thr)
12	g.76346354T=	CA2047353267	BBS10	c.1631A= (p.Asn544=)
12	g.76346355T>A	CA385810733	BBS10	c.1630A>T (p.Asn544Tyr)
12	g.76346355T>C	CA385810735	BBS10	c.1630A>G (p.Asn544Asp)	dbSNP gnomAD v2 gnomAD v4
12	g.76346355T>G	CA385810737	BBS10	c.1630A>C (p.Asn544His)
12	g.76346355T=	CA2047353268	BBS10	c.1630A= (p.Asn544=)
12	g.76346356G>A	CA6694134	BBS10	c.1629C>T (p.Asn543=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346356G>C	CA385810740	BBS10	c.1629C>G (p.Asn543Lys)
12	g.76346356G=	CA2047353270	BBS10	c.1629C= (p.Asn543=)
12	g.76346356G>T	CA385810741	BBS10	c.1629C>A (p.Asn543Lys)
12	g.76346356_76346359delinsGTTC	CA2047353269	BBS10	c.1626_1629delinsGAAC (p.Lys542=)
12	g.76346357T>A	CA385810743	BBS10	c.1628A>T (p.Asn543Ile)
12	g.76346357T>C	CA385810745	BBS10	c.1628A>G (p.Asn543Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.76346357T>G	CA385810747	BBS10	c.1628A>C (p.Asn543Thr)
12	g.76346357T=	CA2047353271	BBS10	c.1628A= (p.Asn543=)
12	g.76346359_76346361del	CA691952990	BBS10	c.1626_1628del (p.Lys542del)	dbSNP
12	g.76346358T>A	CA385810749	BBS10	c.1627A>T (p.Asn543Tyr)
12	g.76346358T>C	CA385810750	BBS10	c.1627A>G (p.Asn543Asp)
12	g.76346358T>G	CA385810752	BBS10	c.1627A>C (p.Asn543His)
12	g.76346359C>A	CA385810754	BBS10	c.1626G>T (p.Lys542Asn)	gnomAD v4
12	g.76346359C>G	CA385810756	BBS10	c.1626G>C (p.Lys542Asn)
12	g.76346359C>T	CA481010606	BBS10	c.1626G>A (p.Lys542=)
12	g.76346360T>A	CA385810757	BBS10	c.1625A>T (p.Lys542Met)	dbSNP gnomAD v3 gnomAD v4
12	g.76346360T>C	CA385810759	BBS10	c.1625A>G (p.Lys542Arg)
12	g.76346360T>G	CA385810761	BBS10	c.1625A>C (p.Lys542Thr)
12	g.76346360T=	CA2047353272	BBS10	c.1625A= (p.Lys542=)
12	g.76346361T>A	CA385810763	BBS10	c.1624A>T (p.Lys542Ter)
12	g.76346361T>C	CA385810764	BBS10	c.1624A>G (p.Lys542Glu)
12	g.76346361T>G	CA385810766	BBS10	c.1624A>C (p.Lys542Gln)
12	g.76346361_76346362insAC	CA2695199112	BBS10	c.1623_1624insGT (p.Lys542ValfsTer15)	ClinVar
12	g.76346362G>A	CA481010631	BBS10	c.1623C>T (p.Leu541=)	ClinVar
12	g.76346362G>C	CA481010629	BBS10	c.1623C>G (p.Leu541=)	ClinVar dbSNP COSMIC
12	g.76346362G>T	CA481010626	BBS10	c.1623C>A (p.Leu541=)
12	g.76346363A=	CA2047353273	BBS10	c.1622T= (p.Leu541=)
12	g.76346363A>C	CA385810770	BBS10	c.1622T>G (p.Leu541Arg)
12	g.76346363A>G	CA6694135	BBS10	c.1622T>C (p.Leu541Pro)	dbSNP ExAC gnomAD v2
12	g.76346363A>T	CA385810769	BBS10	c.1622T>A (p.Leu541His)
12	g.76346364G>A	CA385810772	BBS10	c.1621C>T (p.Leu541Phe)
12	g.76346364G>C	CA385810773	BBS10	c.1621C>G (p.Leu541Val)
12	g.76346364G>T	CA385810774	BBS10	c.1621C>A (p.Leu541Ile)
12	g.76346365T>A	CA385810775	BBS10	c.1620A>T (p.Leu540Phe)

Number of alleles fetched