Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76346126_76346135del	CA356963	BBS10	c.1856_1865del (p.Lys619IlefsTer10)	ClinVar dbSNP
12	g.76346133C>A	CA385809534	BBS10	c.1852G>T (p.Ala618Ser)
12	g.76346133C>G	CA385809531	BBS10	c.1852G>C (p.Ala618Pro)
12	g.76346133C>T	CA385809529	BBS10	c.1852G>A (p.Ala618Thr)
12	g.76346134A>C	CA385809540	BBS10	c.1851T>G (p.Tyr617Ter)
12	g.76346134A>G	CA481010749	BBS10	c.1851T>C (p.Tyr617=)	ClinVar gnomAD v4
12	g.76346134A>T	CA385809537	BBS10	c.1851T>A (p.Tyr617Ter)
12	g.76346135T>A	CA385809549	BBS10	c.1850A>T (p.Tyr617Phe)
12	g.76346135T>C	CA6694095	BBS10	c.1850A>G (p.Tyr617Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346135T>G	CA385809547	BBS10	c.1850A>C (p.Tyr617Ser)
12	g.76346135T=	CA2047353178	BBS10	c.1850A= (p.Tyr617=)
12	g.76346136A>C	CA385809552	BBS10	c.1849T>G (p.Tyr617Asp)
12	g.76346136A>G	CA385809555	BBS10	c.1849T>C (p.Tyr617His)
12	g.76346136A>T	CA385809558	BBS10	c.1849T>A (p.Tyr617Asn)
12	g.76346137A=	CA2047353179	BBS10	c.1848T= (p.Asn616=)
12	g.76346137A>C	CA385809561	BBS10	c.1848T>G (p.Asn616Lys)	dbSNP gnomAD v2 gnomAD v4
12	g.76346137A>G	CA481010757	BBS10	c.1848T>C (p.Asn616=)	gnomAD v4
12	g.76346137A>T	CA385809563	BBS10	c.1848T>A (p.Asn616Lys)
12	g.76346138T>A	CA385809566	BBS10	c.1847A>T (p.Asn616Ile)
12	g.76346138T>C	CA6694096	BBS10	c.1847A>G (p.Asn616Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346138T>G	CA385809570	BBS10	c.1847A>C (p.Asn616Thr)
12	g.76346138T=	CA2047353180	BBS10	c.1847A= (p.Asn616=)
12	g.76346139T>A	CA385809575	BBS10	c.1846A>T (p.Asn616Tyr)
12	g.76346139T>C	CA385809578	BBS10	c.1846A>G (p.Asn616Asp)
12	g.76346139T>G	CA6694097	BBS10	c.1846A>C (p.Asn616His)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346139T=	CA2047353181	BBS10	c.1846A= (p.Asn616=)
12	g.76346140G>A	CA481010766	BBS10	c.1845C>T (p.Leu615=)
12	g.76346140G>C	CA481010767	BBS10	c.1845C>G (p.Leu615=)
12	g.76346140G>T	CA481010764	BBS10	c.1845C>A (p.Leu615=)	gnomAD v4
12	g.76346140_76346142del	CA2619945589	BBS10	c.1843_1845del (p.Leu615del)	gnomAD v4
12	g.76346141A>C	CA385809588	BBS10	c.1844T>G (p.Leu615Arg)
12	g.76346141A>G	CA385809582	BBS10	c.1844T>C (p.Leu615Pro)
12	g.76346141A>T	CA385809585	BBS10	c.1844T>A (p.Leu615His)
12	g.76346142G>A	CA385809591	BBS10	c.1843C>T (p.Leu615Phe)
12	g.76346142G>C	CA385809592	BBS10	c.1843C>G (p.Leu615Val)
12	g.76346142G>T	CA385809594	BBS10	c.1843C>A (p.Leu615Ile)
12	g.76346143A>C	CA481010776	BBS10	c.1842T>G (p.Leu614=)
12	g.76346143A>G	CA481010774	BBS10	c.1842T>C (p.Leu614=)
12	g.76346143A>T	CA481010775	BBS10	c.1842T>A (p.Leu614=)
12	g.76346144A>C	CA385809598	BBS10	c.1841T>G (p.Leu614Arg)
12	g.76346144A>G	CA385809601	BBS10	c.1841T>C (p.Leu614Pro)
12	g.76346144A>T	CA385809604	BBS10	c.1841T>A (p.Leu614His)
12	g.76346145G>A	CA385809607	BBS10	c.1840C>T (p.Leu614Phe)
12	g.76346145G>C	CA385809618	BBS10	c.1840C>G (p.Leu614Val)
12	g.76346145G>T	CA385809621	BBS10	c.1840C>A (p.Leu614Ile)
12	g.76346146A=	CA2047353182	BBS10	c.1839T= (p.Tyr613=)
12	g.76346146A>C	CA385809625	BBS10	c.1839T>G (p.Tyr613Ter)
12	g.76346146A>G	CA481010791	BBS10	c.1839T>C (p.Tyr613=)
12	g.76346146A>T	CA385809627	BBS10	c.1839T>A (p.Tyr613Ter)	ClinVar dbSNP
12	g.76346147T>A	CA385809633	BBS10	c.1838A>T (p.Tyr613Phe)
12	g.76346147T>C	CA241802	BBS10	c.1838A>G (p.Tyr613Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346147T>G	CA385809630	BBS10	c.1838A>C (p.Tyr613Ser)
12	g.76346147T=	CA2047353183	BBS10	c.1838A= (p.Tyr613=)
12	g.76346148A=	CA2047353184	BBS10	c.1837T= (p.Tyr613=)
12	g.76346148A>C	CA385809638	BBS10	c.1837T>G (p.Tyr613Asp)	gnomAD v4
12	g.76346148A>G	CA6694098	BBS10	c.1837T>C (p.Tyr613His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346148A>T	CA385809643	BBS10	c.1837T>A (p.Tyr613Asn)
12	g.76346149G>A	CA481010797	BBS10	c.1836C>T (p.Tyr612=)
12	g.76346149G>C	CA385809646	BBS10	c.1836C>G (p.Tyr612Ter)
12	g.76346149G>T	CA385809649	BBS10	c.1836C>A (p.Tyr612Ter)
12	g.76346150T>A	CA385809653	BBS10	c.1835A>T (p.Tyr612Phe)
12	g.76346150T>C	CA385809655	BBS10	c.1835A>G (p.Tyr612Cys)	gnomAD v4
12	g.76346150T>G	CA385809659	BBS10	c.1835A>C (p.Tyr612Ser)
12	g.76346151A>C	CA385809666	BBS10	c.1834T>G (p.Tyr612Asp)
12	g.76346151A>G	CA385809671	BBS10	c.1834T>C (p.Tyr612His)
12	g.76346151A>T	CA385809675	BBS10	c.1834T>A (p.Tyr612Asn)
12	g.76346152del	CA2573148986	BBS10	c.1834del (p.Tyr612ThrfsTer20)	ClinVar dbSNP
12	g.76346152A>C	CA385809678	BBS10	c.1833T>G (p.His611Gln)
12	g.76346152A>G	CA481010816	BBS10	c.1833T>C (p.His611=)
12	g.76346152A>T	CA385809681	BBS10	c.1833T>A (p.His611Gln)
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)
12	g.76346167A>C	CA385809799	BBS10	c.1818T>G (p.Phe606Leu)
12	g.76346167A>G	CA481010868	BBS10	c.1818T>C (p.Phe606=)
12	g.76346167A>T	CA385809802	BBS10	c.1818T>A (p.Phe606Leu)
12	g.76346168A>C	CA385809806	BBS10	c.1817T>G (p.Phe606Cys)
12	g.76346168A>G	CA385809808	BBS10	c.1817T>C (p.Phe606Ser)
12	g.76346168A>T	CA385809812	BBS10	c.1817T>A (p.Phe606Tyr)
12	g.76346169A>C	CA385809817	BBS10	c.1816T>G (p.Phe606Val)
12	g.76346169A>G	CA385809819	BBS10	c.1816T>C (p.Phe606Leu)
12	g.76346169A>T	CA385809826	BBS10	c.1816T>A (p.Phe606Ile)
12	g.76346170A>C	CA385809828	BBS10	c.1815T>G (p.Asn605Lys)
12	g.76346170A>G	CA481010875	BBS10	c.1815T>C (p.Asn605=)	gnomAD v4
12	g.76346170A>T	CA385809831	BBS10	c.1815T>A (p.Asn605Lys)
12	g.76346170_76346171del	CA2573148987	BBS10	c.1814_1815del (p.Asn605IlefsTer2)	ClinVar dbSNP
12	g.76346171T>A	CA385809832	BBS10	c.1814A>T (p.Asn605Ile)
12	g.76346171T>C	CA385809833	BBS10	c.1814A>G (p.Asn605Ser)
12	g.76346171T>G	CA385809834	BBS10	c.1814A>C (p.Asn605Thr)
12	g.76346172T>A	CA385809837	BBS10	c.1813A>T (p.Asn605Tyr)
12	g.76346172T>C	CA385809840	BBS10	c.1813A>G (p.Asn605Asp)
12	g.76346172T>G	CA385809836	BBS10	c.1813A>C (p.Asn605His)
12	g.76346173A=	CA2047353192	BBS10	c.1812T= (p.Gly604=)
12	g.76346173A>C	CA481010884	BBS10	c.1812T>G (p.Gly604=)
12	g.76346173A>G	CA239331608	BBS10	c.1812T>C (p.Gly604=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346173A>T	CA481010885	BBS10	c.1812T>A (p.Gly604=)
12	g.76346173dup	CA2739272194	BBS10	c.1812dup (p.Asn605Ter)	ClinVar
12	g.76346174C>A	CA385809843	BBS10	c.1811G>T (p.Gly604Val)
12	g.76346174C=	CA2047353193	BBS10	c.1811G= (p.Gly604=)
12	g.76346174C>G	CA385809844	BBS10	c.1811G>C (p.Gly604Ala)	ClinVar dbSNP
12	g.76346174C>T	CA385809846	BBS10	c.1811G>A (p.Gly604Asp)
12	g.76346175C>A	CA385809848	BBS10	c.1810G>T (p.Gly604Cys)
12	g.76346175C>G	CA385809849	BBS10	c.1810G>C (p.Gly604Arg)
12	g.76346175C>T	CA385809851	BBS10	c.1810G>A (p.Gly604Ser)
12	g.76346176A>C	CA481010893	BBS10	c.1809T>G (p.Gly603=)
12	g.76346176A>G	CA481010895	BBS10	c.1809T>C (p.Gly603=)	ClinVar dbSNP gnomAD v4
12	g.76346176A>T	CA481010896	BBS10	c.1809T>A (p.Gly603=)
12	g.76346177C>A	CA385809853	BBS10	c.1808G>T (p.Gly603Val)
12	g.76346177C>G	CA385809854	BBS10	c.1808G>C (p.Gly603Ala)
12	g.76346177C>T	CA385809857	BBS10	c.1808G>A (p.Gly603Asp)
12	g.76346178C>A	CA6694101	BBS10	c.1807G>T (p.Gly603Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346178C=	CA2047353194	BBS10	c.1807G= (p.Gly603=)
12	g.76346178C>G	CA385809861	BBS10	c.1807G>C (p.Gly603Arg)	dbSNP
12	g.76346178C>T	CA385809862	BBS10	c.1807G>A (p.Gly603Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.76346179T>A	CA481010910	BBS10	c.1806A>T (p.Val602=)
12	g.76346179T>C	CA481010912	BBS10	c.1806A>G (p.Val602=)	ClinVar dbSNP gnomAD v4
12	g.76346179T>G	CA481010913	BBS10	c.1806A>C (p.Val602=)
12	g.76346179T=	CA2047353195	BBS10	c.1806A= (p.Val602=)
12	g.76346180A>C	CA385809866	BBS10	c.1805T>G (p.Val602Gly)
12	g.76346180A>G	CA385809863	BBS10	c.1805T>C (p.Val602Ala)
12	g.76346180A>T	CA385809864	BBS10	c.1805T>A (p.Val602Glu)
12	g.76346181C>A	CA385809868	BBS10	c.1804G>T (p.Val602Leu)	ClinVar dbSNP
12	g.76346181C=	CA2047353196	BBS10	c.1804G= (p.Val602=)
12	g.76346181C>G	CA6694102	BBS10	c.1804G>C (p.Val602Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346181C>T	CA385809870	BBS10	c.1804G>A (p.Val602Ile)	gnomAD v4
12	g.76346181dup	CA2796591353	BBS10	c.1804dup (p.Val602GlyfsTer4)
12	g.76346182T>A	CA481010921	BBS10	c.1803A>T (p.Pro601=)
12	g.76346182T>C	CA481010922	BBS10	c.1803A>G (p.Pro601=)	COSMIC
12	g.76346182T>G	CA481010923	BBS10	c.1803A>C (p.Pro601=)
12	g.76346183G>A	CA385809872	BBS10	c.1802C>T (p.Pro601Leu)	ClinVar gnomAD v4
12	g.76346183G>C	CA385809874	BBS10	c.1802C>G (p.Pro601Arg)
12	g.76346183G>T	CA385809876	BBS10	c.1802C>A (p.Pro601Gln)
12	g.76346184G>A	CA385809877	BBS10	c.1801C>T (p.Pro601Ser)
12	g.76346184G>C	CA385809878	BBS10	c.1801C>G (p.Pro601Ala)
12	g.76346184G>T	CA385809879	BBS10	c.1801C>A (p.Pro601Thr)
12	g.76346185C>A	CA385809882	BBS10	c.1800G>T (p.Leu600Phe)
12	g.76346185C>G	CA385809883	BBS10	c.1800G>C (p.Leu600Phe)
12	g.76346185C>T	CA481010926	BBS10	c.1800G>A (p.Leu600=)	gnomAD v4
12	g.76346186A>C	CA385809887	BBS10	c.1799T>G (p.Leu600Trp)
12	g.76346186A>G	CA385809886	BBS10	c.1799T>C (p.Leu600Ser)	ClinVar gnomAD v4
12	g.76346186A>T	CA385809885	BBS10	c.1799T>A (p.Leu600Ter)
12	g.76346187A=	CA2047353197	BBS10	c.1798T= (p.Leu600=)
12	g.76346187A>C	CA385809888	BBS10	c.1798T>G (p.Leu600Val)
12	g.76346187A>G	CA481010930	BBS10	c.1798T>C (p.Leu600=)
12	g.76346187A>T	CA6694103	BBS10	c.1798T>A (p.Leu600Met)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346188A>C	CA481010932	BBS10	c.1797T>G (p.Val599=)
12	g.76346188A>G	CA481010933	BBS10	c.1797T>C (p.Val599=)
12	g.76346188A>T	CA481010937	BBS10	c.1797T>A (p.Val599=)
12	g.76346189A=	CA2047353198	BBS10	c.1796T= (p.Val599=)
12	g.76346189A>C	CA6694104	BBS10	c.1796T>G (p.Val599Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346189A>G	CA385809889	BBS10	c.1796T>C (p.Val599Ala)
12	g.76346189A>T	CA385809890	BBS10	c.1796T>A (p.Val599Asp)
12	g.76346192_76346193del	CA2580616817	BBS10	c.1795_1796del (p.Val599PhefsTer6)	ClinVar
12	g.76346190C>A	CA385809891	BBS10	c.1795G>T (p.Val599Phe)
12	g.76346190C=	CA2047353199	BBS10	c.1795G= (p.Val599=)
12	g.76346190C>G	CA385809892	BBS10	c.1795G>C (p.Val599Leu)
12	g.76346190C>T	CA239331622	BBS10	c.1795G>A (p.Val599Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346191A>C	CA385809893	BBS10	c.1794T>G (p.Cys598Trp)
12	g.76346191A>G	CA481010948	BBS10	c.1794T>C (p.Cys598=)
12	g.76346191A>T	CA385809894	BBS10	c.1794T>A (p.Cys598Ter)
12	g.76346192C>A	CA385809895	BBS10	c.1793G>T (p.Cys598Phe)
12	g.76346192C>G	CA385809896	BBS10	c.1793G>C (p.Cys598Ser)
12	g.76346192C>T	CA385809897	BBS10	c.1793G>A (p.Cys598Tyr)
12	g.76346193A>C	CA385809900	BBS10	c.1792T>G (p.Cys598Gly)
12	g.76346193A>G	CA385809899	BBS10	c.1792T>C (p.Cys598Arg)
12	g.76346193A>T	CA385809898	BBS10	c.1792T>A (p.Cys598Ser)
12	g.76346194A>C	CA481010963	BBS10	c.1791T>G (p.Gly597=)
12	g.76346194A>G	CA481010962	BBS10	c.1791T>C (p.Gly597=)
12	g.76346194A>T	CA481010960	BBS10	c.1791T>A (p.Gly597=)	gnomAD v4 COSMIC
12	g.76346195C>A	CA385809901	BBS10	c.1790G>T (p.Gly597Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346195C=	CA2047353200	BBS10	c.1790G= (p.Gly597=)
12	g.76346195C>G	CA385809902	BBS10	c.1790G>C (p.Gly597Ala)
12	g.76346195C>T	CA385809903	BBS10	c.1790G>A (p.Gly597Asp)	dbSNP gnomAD v4
12	g.76346196C>A	CA385809904	BBS10	c.1789G>T (p.Gly597Cys)
12	g.76346196C>G	CA385809905	BBS10	c.1789G>C (p.Gly597Arg)
12	g.76346196C>T	CA385809906	BBS10	c.1789G>A (p.Gly597Ser)
12	g.76346197A>C	CA481010971	BBS10	c.1788T>G (p.Ala596=)
12	g.76346197A>G	CA481010974	BBS10	c.1788T>C (p.Ala596=)
12	g.76346197A>T	CA481010975	BBS10	c.1788T>A (p.Ala596=)
12	g.76346198G>A	CA385809907	BBS10	c.1787C>T (p.Ala596Val)
12	g.76346198G>C	CA385809908	BBS10	c.1787C>G (p.Ala596Gly)
12	g.76346198G>T	CA385809909	BBS10	c.1787C>A (p.Ala596Asp)
12	g.76346199C>A	CA385809910	BBS10	c.1786G>T (p.Ala596Ser)
12	g.76346199C>G	CA385809911	BBS10	c.1786G>C (p.Ala596Pro)
12	g.76346199C>T	CA385809912	BBS10	c.1786G>A (p.Ala596Thr)
12	g.76346200T>A	CA481010982	BBS10	c.1785A>T (p.Pro595=)
12	g.76346200T>C	CA481010983	BBS10	c.1785A>G (p.Pro595=)	gnomAD v4
12	g.76346200T>G	CA481010984	BBS10	c.1785A>C (p.Pro595=)
12	g.76346201G>A	CA385809914	BBS10	c.1784C>T (p.Pro595Leu)
12	g.76346201G>C	CA385809915	BBS10	c.1784C>G (p.Pro595Arg)
12	g.76346201G>T	CA385809913	BBS10	c.1784C>A (p.Pro595Gln)
12	g.76346202G>A	CA385809916	BBS10	c.1783C>T (p.Pro595Ser)
12	g.76346202G>C	CA385809917	BBS10	c.1783C>G (p.Pro595Ala)
12	g.76346202G>T	CA385809918	BBS10	c.1783C>A (p.Pro595Thr)
12	g.76346203C>A	CA385809919	BBS10	c.1782G>T (p.Met594Ile)
12	g.76346203C=	CA2047353201	BBS10	c.1782G= (p.Met594=)
12	g.76346203C>G	CA385809920	BBS10	c.1782G>C (p.Met594Ile)
12	g.76346203C>T	CA6694105	BBS10	c.1782G>A (p.Met594Ile)	dbSNP ExAC gnomAD v2
12	g.76346204A>C	CA385809921	BBS10	c.1781T>G (p.Met594Arg)
12	g.76346204A>G	CA385809922	BBS10	c.1781T>C (p.Met594Thr)
12	g.76346204A>T	CA385809923	BBS10	c.1781T>A (p.Met594Lys)
12	g.76346205T>A	CA385809924	BBS10	c.1780A>T (p.Met594Leu)
12	g.76346205T>C	CA385809925	BBS10	c.1780A>G (p.Met594Val)	ClinVar dbSNP
12	g.76346205T>G	CA385809928	BBS10	c.1780A>C (p.Met594Leu)
12	g.76346205T=	CA2047353202	BBS10	c.1780A= (p.Met594=)
12	g.76346206A>C	CA481010994	BBS10	c.1779T>G (p.Ser593=)
12	g.76346206A>G	CA481010995	BBS10	c.1779T>C (p.Ser593=)
12	g.76346206A>T	CA481010996	BBS10	c.1779T>A (p.Ser593=)
12	g.76346207G>A	CA385809931	BBS10	c.1778C>T (p.Ser593Phe)	gnomAD v4
12	g.76346207G>C	CA385809933	BBS10	c.1778C>G (p.Ser593Cys)
12	g.76346207G>T	CA385809929	BBS10	c.1778C>A (p.Ser593Tyr)
12	g.76346208A=	CA2047353203	BBS10	c.1777T= (p.Ser593=)
12	g.76346208A>C	CA385809936	BBS10	c.1777T>G (p.Ser593Ala)
12	g.76346208A>G	CA385809939	BBS10	c.1777T>C (p.Ser593Pro)
12	g.76346208A>T	CA6694106	BBS10	c.1777T>A (p.Ser593Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346209T>A	CA481010998	BBS10	c.1776A>T (p.Ser592=)
12	g.76346209T>C	CA6694107	BBS10	c.1776A>G (p.Ser592=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346209T>G	CA481011001	BBS10	c.1776A>C (p.Ser592=)	dbSNP gnomAD v2 gnomAD v4
12	g.76346209T=	CA2047353204	BBS10	c.1776A= (p.Ser592=)
12	g.76346210G>A	CA385809956	BBS10	c.1775C>T (p.Ser592Leu)
12	g.76346210G>C	CA385809954	BBS10	c.1775C>G (p.Ser592Ter)
12	g.76346210G=	CA2047353205	BBS10	c.1775C= (p.Ser592=)
12	g.76346210G>T	CA385809951	BBS10	c.1775C>A (p.Ser592Ter)	dbSNP
12	g.76346211A>C	CA385809960	BBS10	c.1774T>G (p.Ser592Ala)	COSMIC
12	g.76346211A>G	CA385809963	BBS10	c.1774T>C (p.Ser592Pro)
12	g.76346211A>T	CA385809964	BBS10	c.1774T>A (p.Ser592Thr)
12	g.76346212G>A	CA481011005	BBS10	c.1773C>T (p.Ser591=)	dbSNP
12	g.76346212G>C	CA481011006	BBS10	c.1773C>G (p.Ser591=)	ClinVar
12	g.76346212G=	CA2047353206	BBS10	c.1773C= (p.Ser591=)
12	g.76346212G>T	CA481011007	BBS10	c.1773C>A (p.Ser591=)
12	g.76346213G>A	CA385809969	BBS10	c.1772C>T (p.Ser591Phe)
12	g.76346213G>C	CA385809972	BBS10	c.1772C>G (p.Ser591Cys)
12	g.76346213G>T	CA385809973	BBS10	c.1772C>A (p.Ser591Tyr)
12	g.76346214A>C	CA385809974	BBS10	c.1771T>G (p.Ser591Ala)
12	g.76346214A>G	CA385809976	BBS10	c.1771T>C (p.Ser591Pro)
12	g.76346214A>T	CA385809975	BBS10	c.1771T>A (p.Ser591Thr)
12	g.76346215A>C	CA481011009	BBS10	c.1770T>G (p.Leu590=)
12	g.76346215A>G	CA481011011	BBS10	c.1770T>C (p.Leu590=)
12	g.76346215A>T	CA481011010	BBS10	c.1770T>A (p.Leu590=)
12	g.76346216A=	CA2047353207	BBS10	c.1769T= (p.Leu590=)
12	g.76346216A>C	CA6694108	BBS10	c.1769T>G (p.Leu590Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346216A>G	CA385809982	BBS10	c.1769T>C (p.Leu590Pro)	gnomAD v4
12	g.76346216A>T	CA385809978	BBS10	c.1769T>A (p.Leu590His)
12	g.76346217G>A	CA385809987	BBS10	c.1768C>T (p.Leu590Phe)
12	g.76346217G>C	CA385809994	BBS10	c.1768C>G (p.Leu590Val)	gnomAD v4
12	g.76346217G>T	CA385809989	BBS10	c.1768C>A (p.Leu590Ile)
12	g.76346218G>A	CA481011019	BBS10	c.1767C>T (p.Tyr589=)	gnomAD v4
12	g.76346218G>C	CA385809997	BBS10	c.1767C>G (p.Tyr589Ter)	ClinVar gnomAD v4
12	g.76346218G=	CA2047353208	BBS10	c.1767C= (p.Tyr589=)
12	g.76346218G>T	CA385810000	BBS10	c.1767C>A (p.Tyr589Ter)	ClinVar dbSNP
12	g.76346219T>A	CA385810008	BBS10	c.1766A>T (p.Tyr589Phe)
12	g.76346219T>C	CA385810011	BBS10	c.1766A>G (p.Tyr589Cys)
12	g.76346219T>G	CA385810014	BBS10	c.1766A>C (p.Tyr589Ser)
12	g.76346219dup	CA2796591354	BBS10	c.1766dup (p.Tyr589Ter)
12	g.76346220A=	CA2047353209	BBS10	c.1765T= (p.Tyr589=)
12	g.76346220A>C	CA385810017	BBS10	c.1765T>G (p.Tyr589Asp)	dbSNP gnomAD v2 gnomAD v4
12	g.76346220A>G	CA385810019	BBS10	c.1765T>C (p.Tyr589His)
12	g.76346220A>T	CA385810022	BBS10	c.1765T>A (p.Tyr589Asn)
12	g.76346221A>C	CA385810028	BBS10	c.1764T>G (p.Ser588Arg)
12	g.76346221A>G	CA481011021	BBS10	c.1764T>C (p.Ser588=)
12	g.76346221A>T	CA385810030	BBS10	c.1764T>A (p.Ser588Arg)
12	g.76346222C>A	CA385810034	BBS10	c.1763G>T (p.Ser588Ile)
12	g.76346222C>G	CA385810038	BBS10	c.1763G>C (p.Ser588Thr)
12	g.76346222C>T	CA385810041	BBS10	c.1763G>A (p.Ser588Asn)
12	g.76346223T>A	CA385810050	BBS10	c.1762A>T (p.Ser588Cys)
12	g.76346223T>C	CA385810048	BBS10	c.1762A>G (p.Ser588Gly)	gnomAD v4
12	g.76346223T>G	CA385810045	BBS10	c.1762A>C (p.Ser588Arg)
12	g.76346224C>A	CA385810052	BBS10	c.1761G>T (p.Gln587His)
12	g.76346224C>G	CA385810055	BBS10	c.1761G>C (p.Gln587His)
12	g.76346224C>T	CA481011026	BBS10	c.1761G>A (p.Gln587=)
12	g.76346225T>A	CA385810058	BBS10	c.1760A>T (p.Gln587Leu)
12	g.76346225T>C	CA385810066	BBS10	c.1760A>G (p.Gln587Arg)	dbSNP
12	g.76346225T>G	CA385810071	BBS10	c.1760A>C (p.Gln587Pro)
12	g.76346225T=	CA2047353210	BBS10	c.1760A= (p.Gln587=)
12	g.76346226G>A	CA385810073	BBS10	c.1759C>T (p.Gln587Ter)
12	g.76346226G>C	CA385810076	BBS10	c.1759C>G (p.Gln587Glu)	dbSNP gnomAD v2 gnomAD v4
12	g.76346226G=	CA2047353211	BBS10	c.1759C= (p.Gln587=)
12	g.76346226G>T	CA385810080	BBS10	c.1759C>A (p.Gln587Lys)	COSMIC
12	g.76346228del	CA2619945591	BBS10	c.1759del (p.Gln587ArgfsTer16)	gnomAD v4
12	g.76346227G>A	CA6694109	BBS10	c.1758C>T (p.Ser586=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346227G>C	CA481011033	BBS10	c.1758C>G (p.Ser586=)	dbSNP gnomAD v2 gnomAD v4
12	g.76346227G=	CA2047353212	BBS10	c.1758C= (p.Ser586=)
12	g.76346227G>T	CA481011031	BBS10	c.1758C>A (p.Ser586=)
12	g.76346228G>A	CA385810088	BBS10	c.1757C>T (p.Ser586Phe)	dbSNP gnomAD v2
12	g.76346228G>C	CA385810090	BBS10	c.1757C>G (p.Ser586Cys)	dbSNP gnomAD v2 gnomAD v4
12	g.76346228G=	CA2047353213	BBS10	c.1757C= (p.Ser586=)
12	g.76346228G>T	CA385810094	BBS10	c.1757C>A (p.Ser586Tyr)
12	g.76346229A>C	CA385810104	BBS10	c.1756T>G (p.Ser586Ala)
12	g.76346229A>G	CA385810102	BBS10	c.1756T>C (p.Ser586Pro)
12	g.76346229A>T	CA385810099	BBS10	c.1756T>A (p.Ser586Thr)
12	g.76346230A>C	CA481011036	BBS10	c.1755T>G (p.Thr585=)	COSMIC
12	g.76346230A>G	CA481011038	BBS10	c.1755T>C (p.Thr585=)
12	g.76346230A>T	CA481011040	BBS10	c.1755T>A (p.Thr585=)
12	g.76346231G>A	CA385810108	BBS10	c.1754C>T (p.Thr585Ile)	gnomAD v4
12	g.76346231G>C	CA385810110	BBS10	c.1754C>G (p.Thr585Ser)	dbSNP
12	g.76346231G=	CA2047353214	BBS10	c.1754C= (p.Thr585=)
12	g.76346231G>T	CA385810112	BBS10	c.1754C>A (p.Thr585Asn)
12	g.76346232T>A	CA385810116	BBS10	c.1753A>T (p.Thr585Ser)
12	g.76346232T>C	CA385810117	BBS10	c.1753A>G (p.Thr585Ala)	dbSNP gnomAD v3 gnomAD v4
12	g.76346232T>G	CA385810128	BBS10	c.1753A>C (p.Thr585Pro)
12	g.76346232T=	CA2047353215	BBS10	c.1753A= (p.Thr585=)
12	g.76346233A=	CA2047353216	BBS10	c.1752T= (p.Gly584=)
12	g.76346233A>C	CA481011041	BBS10	c.1752T>G (p.Gly584=)
12	g.76346233A>G	CA481011042	BBS10	c.1752T>C (p.Gly584=)
12	g.76346233A>T	CA481011043	BBS10	c.1752T>A (p.Gly584=)	dbSNP

Number of alleles fetched