Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76346153T>A	CA385809691	BBS10	c.1832A>T (p.His611Leu)
12	g.76346153T>C	CA385809685	BBS10	c.1832A>G (p.His611Arg)	dbSNP
12	g.76346153T>G	CA385809688	BBS10	c.1832A>C (p.His611Pro)
12	g.76346153T=	CA2047353185	BBS10	c.1832A= (p.His611=)
12	g.76346154G>A	CA385809694	BBS10	c.1831C>T (p.His611Tyr)
12	g.76346154G>C	CA385809696	BBS10	c.1831C>G (p.His611Asp)	gnomAD v4
12	g.76346154G>T	CA385809698	BBS10	c.1831C>A (p.His611Asn)
12	g.76346155T>A	CA385809703	BBS10	c.1830A>T (p.Leu610Phe)
12	g.76346155T>C	CA481010825	BBS10	c.1830A>G (p.Leu610=)
12	g.76346155T>G	CA385809706	BBS10	c.1830A>C (p.Leu610Phe)
12	g.76346155_76346156insTT	CA2619945590	BBS10	c.1830_1831insAA (p.His611AsnfsTer22)	gnomAD v4
12	g.76346156A=	CA2047353186	BBS10	c.1829T= (p.Leu610=)
12	g.76346156A>C	CA385809712	BBS10	c.1829T>G (p.Leu610Ter)	ClinVar dbSNP gnomAD v4
12	g.76346156A>G	CA385809715	BBS10	c.1829T>C (p.Leu610Ser)
12	g.76346156A>T	CA385809718	BBS10	c.1829T>A (p.Leu610Ter)
12	g.76346157A>C	CA385809721	BBS10	c.1828T>G (p.Leu610Val)	gnomAD v4
12	g.76346157A>G	CA481010834	BBS10	c.1828T>C (p.Leu610=)	ClinVar
12	g.76346157A>T	CA385809724	BBS10	c.1828T>A (p.Leu610Ile)
12	g.76346158C>A	CA6694099	BBS10	c.1827G>T (p.Leu609Phe)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346158C=	CA2047353187	BBS10	c.1827G= (p.Leu609=)
12	g.76346158C>G	CA385809730	BBS10	c.1827G>C (p.Leu609Phe)
12	g.76346158C>T	CA481010837	BBS10	c.1827G>A (p.Leu609=)	ClinVar dbSNP gnomAD v4
12	g.76346159A=	CA2047353188	BBS10	c.1826T= (p.Leu609=)
12	g.76346159A>C	CA385809737	BBS10	c.1826T>G (p.Leu609Trp)	dbSNP gnomAD v3 gnomAD v4
12	g.76346159A>G	CA385809740	BBS10	c.1826T>C (p.Leu609Ser)	ClinVar gnomAD v4
12	g.76346159A>T	CA385809735	BBS10	c.1826T>A (p.Leu609Ter)
12	g.76346160A>C	CA385809743	BBS10	c.1825T>G (p.Leu609Val)
12	g.76346160A>G	CA481010845	BBS10	c.1825T>C (p.Leu609=)	ClinVar dbSNP gnomAD v4
12	g.76346160A>T	CA385809746	BBS10	c.1825T>A (p.Leu609Met)
12	g.76346161G>A	CA6694100	BBS10	c.1824C>T (p.Ile608=)	ClinVar dbSNP ExAC gnomAD v2
12	g.76346161G>C	CA385809750	BBS10	c.1824C>G (p.Ile608Met)
12	g.76346161G=	CA2047353189	BBS10	c.1824C= (p.Ile608=)
12	g.76346161G>T	CA481010849	BBS10	c.1824C>A (p.Ile608=)	gnomAD v4
12	g.76346162A>C	CA385809754	BBS10	c.1823T>G (p.Ile608Ser)
12	g.76346162A>G	CA385809756	BBS10	c.1823T>C (p.Ile608Thr)
12	g.76346162A>T	CA385809759	BBS10	c.1823T>A (p.Ile608Asn)	gnomAD v4
12	g.76346163T>A	CA385809762	BBS10	c.1822A>T (p.Ile608Phe)
12	g.76346163T>C	CA16606610	BBS10	c.1822A>G (p.Ile608Val)	ClinVar dbSNP gnomAD v4
12	g.76346163T>G	CA385809767	BBS10	c.1822A>C (p.Ile608Leu)
12	g.76346163T=	CA2047353190	BBS10	c.1822A= (p.Ile608=)
12	g.76346164C>A	CA239331605	BBS10	c.1821G>T (p.Glu607Asp)	dbSNP
12	g.76346164C=	CA2047353191	BBS10	c.1821G= (p.Glu607=)
12	g.76346164C>G	CA385809773	BBS10	c.1821G>C (p.Glu607Asp)
12	g.76346164C>T	CA481010860	BBS10	c.1821G>A (p.Glu607=)
12	g.76346165T>A	CA385809776	BBS10	c.1820A>T (p.Glu607Val)
12	g.76346165T>C	CA385809778	BBS10	c.1820A>G (p.Glu607Gly)
12	g.76346165T>G	CA385809782	BBS10	c.1820A>C (p.Glu607Ala)
12	g.76346166C>A	CA385809795	BBS10	c.1819G>T (p.Glu607Ter)
12	g.76346166C>G	CA385809790	BBS10	c.1819G>C (p.Glu607Gln)
12	g.76346166C>T	CA385809787	BBS10	c.1819G>A (p.Glu607Lys)

Number of alleles fetched