Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76346049T>A	CA385808924	BBS10	c.1936A>T (p.Lys646Ter)
12	g.76346049T>C	CA6694079	BBS10	c.1936A>G (p.Lys646Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346049T>G	CA385808928	BBS10	c.1936A>C (p.Lys646Gln)
12	g.76346049T=	CA2047353137	BBS10	c.1936A= (p.Lys646=)
12	g.76346050A>C	CA385808930	BBS10	c.1935T>G (p.Tyr645Ter)
12	g.76346050A>G	CA481011072	BBS10	c.1935T>C (p.Tyr645=)
12	g.76346050A>T	CA385808931	BBS10	c.1935T>A (p.Tyr645Ter)
12	g.76346051T>A	CA385808935	BBS10	c.1934A>T (p.Tyr645Phe)
12	g.76346051T>C	CA385808937	BBS10	c.1934A>G (p.Tyr645Cys)	gnomAD v4
12	g.76346051T>G	CA385808939	BBS10	c.1934A>C (p.Tyr645Ser)
12	g.76346052A>C	CA385808944	BBS10	c.1933T>G (p.Tyr645Asp)
12	g.76346052A>G	CA385808946	BBS10	c.1933T>C (p.Tyr645His)
12	g.76346052A>T	CA385808949	BBS10	c.1933T>A (p.Tyr645Asn)
12	g.76346053A>C	CA481011077	BBS10	c.1932T>G (p.Leu644=)
12	g.76346053A>G	CA481011078	BBS10	c.1932T>C (p.Leu644=)
12	g.76346053A>T	CA481011079	BBS10	c.1932T>A (p.Leu644=)
12	g.76346054A>C	CA385808958	BBS10	c.1931T>G (p.Leu644Arg)
12	g.76346054A>G	CA385808954	BBS10	c.1931T>C (p.Leu644Pro)
12	g.76346054A>T	CA385808952	BBS10	c.1931T>A (p.Leu644His)
12	g.76346055G>A	CA385808963	BBS10	c.1930C>T (p.Leu644Phe)	ClinVar gnomAD v4
12	g.76346055G>C	CA385808961	BBS10	c.1930C>G (p.Leu644Val)	gnomAD v4
12	g.76346055G>T	CA385808967	BBS10	c.1930C>A (p.Leu644Ile)
12	g.76346056G>A	CA6694080	BBS10	c.1929C>T (p.Val643=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346056G>C	CA481011085	BBS10	c.1929C>G (p.Val643=)
12	g.76346056G=	CA2047353138	BBS10	c.1929C= (p.Val643=)
12	g.76346056G>T	CA481011087	BBS10	c.1929C>A (p.Val643=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346057A=	CA2047353139	BBS10	c.1928T= (p.Val643=)
12	g.76346057A>C	CA385808972	BBS10	c.1928T>G (p.Val643Gly)
12	g.76346057A>G	CA385808976	BBS10	c.1928T>C (p.Val643Ala)	dbSNP gnomAD v3 gnomAD v4
12	g.76346057A>T	CA385808978	BBS10	c.1928T>A (p.Val643Asp)
12	g.76346058C>A	CA385808979	BBS10	c.1927G>T (p.Val643Phe)
12	g.76346058C=	CA2047353140	BBS10	c.1927G= (p.Val643=)
12	g.76346058C>G	CA385808980	BBS10	c.1927G>C (p.Val643Leu)
12	g.76346058C>T	CA6694081	BBS10	c.1927G>A (p.Val643Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346059T>A	CA385808982	BBS10	c.1926A>T (p.Lys642Asn)
12	g.76346059T>C	CA481011100	BBS10	c.1926A>G (p.Lys642=)
12	g.76346059T>G	CA385808983	BBS10	c.1926A>C (p.Lys642Asn)
12	g.76346060T>A	CA385808987	BBS10	c.1925A>T (p.Lys642Ile)
12	g.76346060T>C	CA6694082	BBS10	c.1925A>G (p.Lys642Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346060T>G	CA385808990	BBS10	c.1925A>C (p.Lys642Thr)
12	g.76346060T=	CA2047353141	BBS10	c.1925A= (p.Lys642=)
12	g.76346061T>A	CA385808995	BBS10	c.1924A>T (p.Lys642Ter)
12	g.76346061T>C	CA385808996	BBS10	c.1924A>G (p.Lys642Glu)
12	g.76346061T>G	CA385808993	BBS10	c.1924A>C (p.Lys642Gln)
12	g.76346062G>A	CA6694083	BBS10	c.1923C>T (p.Pro641=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346062G>C	CA481011107	BBS10	c.1923C>G (p.Pro641=)	dbSNP
12	g.76346062G=	CA2047353142	BBS10	c.1923C= (p.Pro641=)
12	g.76346062G>T	CA481011108	BBS10	c.1923C>A (p.Pro641=)
12	g.76346063G>A	CA385809001	BBS10	c.1922C>T (p.Pro641Leu)	gnomAD v4
12	g.76346063G>C	CA385809003	BBS10	c.1922C>G (p.Pro641Arg)

Number of alleles fetched