Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76347140T>A	CA385813917	BBS10	c.845A>T (p.Gln282Leu)
12	g.76347140T>C	CA385813919	BBS10	c.845A>G (p.Gln282Arg)
12	g.76347140T>G	CA385813918	BBS10	c.845A>C (p.Gln282Pro)
12	g.76347142_76347143del	CA2575230731	BBS10	c.844_845del (p.Gln282ValfsTer21)	ClinVar gnomAD v4
12	g.76347141G>A	CA385813920	BBS10	c.844C>T (p.Gln282Ter)
12	g.76347141G>C	CA385813921	BBS10	c.844C>G (p.Gln282Glu)
12	g.76347141G>T	CA385813922	BBS10	c.844C>A (p.Gln282Lys)	gnomAD v4
12	g.76347142T>A	CA481011449	BBS10	c.843A>T (p.Ala281=)
12	g.76347142T>C	CA481011450	BBS10	c.843A>G (p.Ala281=)
12	g.76347142T>G	CA481011451	BBS10	c.843A>C (p.Ala281=)	ClinVar
12	g.76347143G>A	CA385813923	BBS10	c.842C>T (p.Ala281Val)
12	g.76347143G>C	CA385813924	BBS10	c.842C>G (p.Ala281Gly)
12	g.76347143G>T	CA385813925	BBS10	c.842C>A (p.Ala281Glu)
12	g.76347144C>A	CA385813926	BBS10	c.841G>T (p.Ala281Ser)
12	g.76347144C=	CA2047353638	BBS10	c.841G= (p.Ala281=)
12	g.76347144C>G	CA385813927	BBS10	c.841G>C (p.Ala281Pro)
12	g.76347144C>T	CA6694276	BBS10	c.841G>A (p.Ala281Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347145T>A	CA385813928	BBS10	c.840A>T (p.Glu280Asp)
12	g.76347145T>C	CA6694277	BBS10	c.840A>G (p.Glu280=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347145T>G	CA385813929	BBS10	c.840A>C (p.Glu280Asp)
12	g.76347145T=	CA2047353639	BBS10	c.840A= (p.Glu280=)
12	g.76347146T>A	CA385813932	BBS10	c.839A>T (p.Glu280Val)
12	g.76347146T>C	CA385813930	BBS10	c.839A>G (p.Glu280Gly)	dbSNP gnomAD v2 gnomAD v4
12	g.76347146T>G	CA385813931	BBS10	c.839A>C (p.Glu280Ala)
12	g.76347146T=	CA2047353640	BBS10	c.839A= (p.Glu280=)
12	g.76347147C>A	CA385813933	BBS10	c.838G>T (p.Glu280Ter)	dbSNP gnomAD v2 gnomAD v4
12	g.76347147C=	CA2047353641	BBS10	c.838G= (p.Glu280=)
12	g.76347147C>G	CA385813934	BBS10	c.838G>C (p.Glu280Gln)
12	g.76347147C>T	CA385813935	BBS10	c.838G>A (p.Glu280Lys)	gnomAD v4
12	g.76347148T>A	CA481011456	BBS10	c.837A>T (p.Ser279=)
12	g.76347148T>C	CA481011457	BBS10	c.837A>G (p.Ser279=)	ClinVar dbSNP gnomAD v4
12	g.76347148T>G	CA481011458	BBS10	c.837A>C (p.Ser279=)
12	g.76347149G>A	CA385813936	BBS10	c.836C>T (p.Ser279Leu)
12	g.76347149G>C	CA385813938	BBS10	c.836C>G (p.Ser279Ter)	gnomAD v4
12	g.76347149G>T	CA385813939	BBS10	c.836C>A (p.Ser279Ter)	gnomAD v4
12	g.76347150A>C	CA385813942	BBS10	c.835T>G (p.Ser279Ala)
12	g.76347150A>G	CA385813943	BBS10	c.835T>C (p.Ser279Pro)
12	g.76347150A>T	CA385813944	BBS10	c.835T>A (p.Ser279Thr)
12	g.76347151A>C	CA385813947	BBS10	c.834T>G (p.Asn278Lys)
12	g.76347151A>G	CA481011460	BBS10	c.834T>C (p.Asn278=)
12	g.76347151A>T	CA385813948	BBS10	c.834T>A (p.Asn278Lys)
12	g.76347152T>A	CA385813952	BBS10	c.833A>T (p.Asn278Ile)	dbSNP
12	g.76347152T>C	CA385813951	BBS10	c.833A>G (p.Asn278Ser)
12	g.76347152T>G	CA385813949	BBS10	c.833A>C (p.Asn278Thr)
12	g.76347152T=	CA2047353642	BBS10	c.833A= (p.Asn278=)
12	g.76347153T>A	CA385813954	BBS10	c.832A>T (p.Asn278Tyr)
12	g.76347153T>C	CA385813956	BBS10	c.832A>G (p.Asn278Asp)
12	g.76347153T>G	CA385813957	BBS10	c.832A>C (p.Asn278His)
12	g.76347154T>A	CA481011466	BBS10	c.831A>T (p.Leu277=)
12	g.76347154T>C	CA481011465	BBS10	c.831A>G (p.Leu277=)
12	g.76347154T>G	CA481011464	BBS10	c.831A>C (p.Leu277=)
12	g.76347155A=	CA2047353643	BBS10	c.830T= (p.Leu277=)
12	g.76347155A>C	CA385813959	BBS10	c.830T>G (p.Leu277Arg)
12	g.76347155A>G	CA385813961	BBS10	c.830T>C (p.Leu277Pro)	gnomAD v4
12	g.76347155A>T	CA385813963	BBS10	c.830T>A (p.Leu277Gln)	dbSNP
12	g.76347156G>A	CA481011467	BBS10	c.829C>T (p.Leu277=)
12	g.76347156G>C	CA385813965	BBS10	c.829C>G (p.Leu277Val)
12	g.76347156G>T	CA385813967	BBS10	c.829C>A (p.Leu277Ile)	gnomAD v4
12	g.76347157A>C	CA385813968	BBS10	c.828T>G (p.Ile276Met)
12	g.76347157A>G	CA481011472	BBS10	c.828T>C (p.Ile276=)
12	g.76347157A>T	CA481011471	BBS10	c.828T>A (p.Ile276=)
12	g.76347158A=	CA2047353644	BBS10	c.827T= (p.Ile276=)
12	g.76347158A>C	CA385813970	BBS10	c.827T>G (p.Ile276Ser)
12	g.76347158A>G	CA6694278	BBS10	c.827T>C (p.Ile276Thr)	dbSNP ExAC gnomAD v2
12	g.76347158A>T	CA385813973	BBS10	c.827T>A (p.Ile276Asn)
12	g.76347159T>A	CA385813977	BBS10	c.826A>T (p.Ile276Phe)
12	g.76347159T>C	CA385813980	BBS10	c.826A>G (p.Ile276Val)
12	g.76347159T>G	CA385813975	BBS10	c.826A>C (p.Ile276Leu)
12	g.76347160A>C	CA385813985	BBS10	c.825T>G (p.Phe275Leu)
12	g.76347160A>G	CA481011474	BBS10	c.825T>C (p.Phe275=)	gnomAD v4
12	g.76347160A>T	CA385813986	BBS10	c.825T>A (p.Phe275Leu)
12	g.76347161A>C	CA385813989	BBS10	c.824T>G (p.Phe275Cys)
12	g.76347161A>G	CA385813990	BBS10	c.824T>C (p.Phe275Ser)
12	g.76347161A>T	CA385813992	BBS10	c.824T>A (p.Phe275Tyr)
12	g.76347162A>C	CA385813996	BBS10	c.823T>G (p.Phe275Val)
12	g.76347162A>G	CA385813994	BBS10	c.823T>C (p.Phe275Leu)
12	g.76347162A>T	CA385813995	BBS10	c.823T>A (p.Phe275Ile)
12	g.76347163C>A	CA385813997	BBS10	c.822G>T (p.Glu274Asp)
12	g.76347163C>G	CA385813999	BBS10	c.822G>C (p.Glu274Asp)
12	g.76347163C>T	CA481011477	BBS10	c.822G>A (p.Glu274=)
12	g.76347165_76347166del	CA2619945596	BBS10	c.821_822del (p.Glu274ValfsTer29)	gnomAD v4
12	g.76347164_76347171dup	CA2695217037	BBS10	c.815_822dup (p.Phe275AspfsTer6)
12	g.76347164T>A	CA385814001	BBS10	c.821A>T (p.Glu274Val)
12	g.76347164T>C	CA385814003	BBS10	c.821A>G (p.Glu274Gly)
12	g.76347164T>G	CA385814005	BBS10	c.821A>C (p.Glu274Ala)
12	g.76347165C>A	CA385814006	BBS10	c.820G>T (p.Glu274Ter)
12	g.76347165C=	CA2047353645	BBS10	c.820G= (p.Glu274=)
12	g.76347165C>G	CA385814009	BBS10	c.820G>C (p.Glu274Gln)
12	g.76347165C>T	CA385814008	BBS10	c.820G>A (p.Glu274Lys)	dbSNP gnomAD v3 gnomAD v4
12	g.76347166T>A	CA481011478	BBS10	c.819A>T (p.Ser273=)
12	g.76347166T>C	CA481011479	BBS10	c.819A>G (p.Ser273=)
12	g.76347166T>G	CA481011480	BBS10	c.819A>C (p.Ser273=)
12	g.76347167G>A	CA385814011	BBS10	c.818C>T (p.Ser273Leu)
12	g.76347167G>C	CA385814014	BBS10	c.818C>G (p.Ser273Ter)
12	g.76347167G>T	CA385814013	BBS10	c.818C>A (p.Ser273Ter)
12	g.76347168A>C	CA385814016	BBS10	c.817T>G (p.Ser273Ala)
12	g.76347168A>G	CA385814020	BBS10	c.817T>C (p.Ser273Pro)
12	g.76347168A>T	CA385814018	BBS10	c.817T>A (p.Ser273Thr)
12	g.76347169T>A	CA481011481	BBS10	c.816A>T (p.Gly272=)
12	g.76347169T>C	CA481011482	BBS10	c.816A>G (p.Gly272=)	ClinVar
12	g.76347169T>G	CA481011483	BBS10	c.816A>C (p.Gly272=)
12	g.76347170C>A	CA385814022	BBS10	c.815G>T (p.Gly272Val)	dbSNP gnomAD v2 gnomAD v4
12	g.76347170C=	CA2047353646	BBS10	c.815G= (p.Gly272=)
12	g.76347170C>G	CA6694279	BBS10	c.815G>C (p.Gly272Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347170C>T	CA385814032	BBS10	c.815G>A (p.Gly272Glu)	gnomAD v4
12	g.76347171C>A	CA385814039	BBS10	c.814G>T (p.Gly272Ter)
12	g.76347171C>G	CA385814042	BBS10	c.814G>C (p.Gly272Arg)
12	g.76347171C>T	CA385814043	BBS10	c.814G>A (p.Gly272Arg)	COSMIC
12	g.76347172A=	CA2047353647	BBS10	c.813T= (p.Ser271=)
12	g.76347172A>C	CA481011484	BBS10	c.813T>G (p.Ser271=)	dbSNP
12	g.76347172A>G	CA481011486	BBS10	c.813T>C (p.Ser271=)	ClinVar
12	g.76347172A>T	CA481011485	BBS10	c.813T>A (p.Ser271=)
12	g.76347173G>A	CA385814048	BBS10	c.812C>T (p.Ser271Phe)
12	g.76347173G>C	CA385814049	BBS10	c.812C>G (p.Ser271Cys)	dbSNP gnomAD v2 gnomAD v4
12	g.76347173G=	CA2047353648	BBS10	c.812C= (p.Ser271=)
12	g.76347173G>T	CA385814050	BBS10	c.812C>A (p.Ser271Tyr)
12	g.76347174A>C	CA385814051	BBS10	c.811T>G (p.Ser271Ala)
12	g.76347174A>G	CA385814052	BBS10	c.811T>C (p.Ser271Pro)
12	g.76347174A>T	CA385814054	BBS10	c.811T>A (p.Ser271Thr)
12	g.76347174_76347175del	CA2619945597	BBS10	c.810_811del (p.Ser271TrpfsTer?)	gnomAD v4
12	g.76347175A>C	CA481011487	BBS10	c.810T>G (p.Thr270=)
12	g.76347175A>G	CA481011488	BBS10	c.810T>C (p.Thr270=)
12	g.76347175A>T	CA481011489	BBS10	c.810T>A (p.Thr270=)
12	g.76347176G>A	CA385814059	BBS10	c.809C>T (p.Thr270Ile)	gnomAD v4
12	g.76347176G>C	CA385814058	BBS10	c.809C>G (p.Thr270Ser)
12	g.76347176G>T	CA385814056	BBS10	c.809C>A (p.Thr270Asn)
12	g.76347177T>A	CA385814061	BBS10	c.808A>T (p.Thr270Ser)
12	g.76347177T>C	CA6694280	BBS10	c.808A>G (p.Thr270Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347177T>G	CA385814064	BBS10	c.808A>C (p.Thr270Pro)
12	g.76347177T=	CA2047353649	BBS10	c.808A= (p.Thr270=)
12	g.76347178G>A	CA481011490	BBS10	c.807C>T (p.Ser269=)
12	g.76347178G>C	CA481011492	BBS10	c.807C>G (p.Ser269=)
12	g.76347178G>T	CA481011491	BBS10	c.807C>A (p.Ser269=)
12	g.76347179dup	CA2695199116	BBS10	c.807dup (p.Thr270HisfsTer?)	ClinVar
12	g.76347179G>A	CA385814066	BBS10	c.806C>T (p.Ser269Phe)
12	g.76347179G>C	CA385814068	BBS10	c.806C>G (p.Ser269Cys)
12	g.76347179G=	CA2047353650	BBS10	c.806C= (p.Ser269=)
12	g.76347179G>T	CA385814069	BBS10	c.806C>A (p.Ser269Tyr)
12	g.76347180A>C	CA385814073	BBS10	c.805T>G (p.Ser269Ala)
12	g.76347180A>G	CA385814074	BBS10	c.805T>C (p.Ser269Pro)
12	g.76347180A>T	CA385814075	BBS10	c.805T>A (p.Ser269Thr)
12	g.76347185dup	CA606185945	BBS10	c.805dup (p.Ser269PhefsTer?)	ClinVar dbSNP gnomAD v2
12	g.76347184_76347185del	CA2573053759	BBS10	c.804_805del (p.Ser269HisfsTer?)	ClinVar dbSNP
12	g.76347181A=	CA2047353651	BBS10	c.804T= (p.Phe268=)
12	g.76347181A>C	CA6694281	BBS10	c.804T>G (p.Phe268Leu)	dbSNP ExAC gnomAD v2 COSMIC
12	g.76347181A>G	CA481011493	BBS10	c.804T>C (p.Phe268=)	ClinVar dbSNP
12	g.76347181A>T	CA385814076	BBS10	c.804T>A (p.Phe268Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.76347182A>C	CA385814080	BBS10	c.803T>G (p.Phe268Cys)	gnomAD v4
12	g.76347182A>G	CA385814082	BBS10	c.803T>C (p.Phe268Ser)
12	g.76347182A>T	CA385814077	BBS10	c.803T>A (p.Phe268Tyr)
12	g.76347183A>C	CA385814086	BBS10	c.802T>G (p.Phe268Val)
12	g.76347183A>G	CA385814089	BBS10	c.802T>C (p.Phe268Leu)
12	g.76347183A>T	CA385814092	BBS10	c.802T>A (p.Phe268Ile)
12	g.76347184A>C	CA481011494	BBS10	c.801T>G (p.Leu267=)	ClinVar
12	g.76347184A>G	CA481011495	BBS10	c.801T>C (p.Leu267=)
12	g.76347184A>T	CA481011496	BBS10	c.801T>A (p.Leu267=)
12	g.76347185A=	CA2047353652	BBS10	c.800T= (p.Leu267=)
12	g.76347185A>C	CA385814097	BBS10	c.800T>G (p.Leu267Arg)
12	g.76347185A>G	CA385814099	BBS10	c.800T>C (p.Leu267Pro)	dbSNP COSMIC
12	g.76347185A>T	CA385814102	BBS10	c.800T>A (p.Leu267His)	ClinVar dbSNP
12	g.76347185_76347186insC	CA2619945598	BBS10	c.799_800insG (p.Leu267ArgfsTer?)	gnomAD v4
12	g.76347186G>A	CA385814115	BBS10	c.799C>T (p.Leu267Phe)	dbSNP gnomAD v2 gnomAD v4
12	g.76347186G>C	CA385814117	BBS10	c.799C>G (p.Leu267Val)
12	g.76347186G=	CA2047353653	BBS10	c.799C= (p.Leu267=)
12	g.76347186G>T	CA385814120	BBS10	c.799C>A (p.Leu267Ile)
12	g.76347187A>C	CA481011499	BBS10	c.798T>G (p.Pro266=)
12	g.76347187A>G	CA481011497	BBS10	c.798T>C (p.Pro266=)
12	g.76347187A>T	CA481011498	BBS10	c.798T>A (p.Pro266=)
12	g.76347188G>A	CA6694282	BBS10	c.797C>T (p.Pro266Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347188G>C	CA385814123	BBS10	c.797C>G (p.Pro266Arg)
12	g.76347188G=	CA2047353654	BBS10	c.797C= (p.Pro266=)
12	g.76347188G>T	CA385814124	BBS10	c.797C>A (p.Pro266His)
12	g.76347189G>A	CA385814131	BBS10	c.796C>T (p.Pro266Ser)
12	g.76347189G>C	CA6694283	BBS10	c.796C>G (p.Pro266Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347189G=	CA2047353655	BBS10	c.796C= (p.Pro266=)
12	g.76347189G>T	CA385814128	BBS10	c.796C>A (p.Pro266Thr)	gnomAD v4
12	g.76347190_76347196del	CA2619945599	BBS10	c.790_796del (p.Ile264LeufsTer12)	gnomAD v4
12	g.76347190C>A	CA385814142	BBS10	c.795G>T (p.Gln265His)
12	g.76347190C>G	CA385814145	BBS10	c.795G>C (p.Gln265His)
12	g.76347190C>T	CA481011500	BBS10	c.795G>A (p.Gln265=)
12	g.76347190_76347194delinsCTGAA	CA2047353656	BBS10	c.791_795delinsTTCAG (p.Ile264=)
12	g.76347191T>A	CA385814148	BBS10	c.794A>T (p.Gln265Leu)
12	g.76347191T>C	CA385814151	BBS10	c.794A>G (p.Gln265Arg)
12	g.76347191T>G	CA6694284	BBS10	c.794A>C (p.Gln265Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347191T=	CA2047353658	BBS10	c.794A= (p.Gln265=)
12	g.76347193_76347196del	CA2047353657	BBS10	c.791_794del (p.Ile264SerfsTer13)	dbSNP gnomAD v4
12	g.76347192G>A	CA239332225	BBS10	c.793C>T (p.Gln265Ter)	ClinVar dbSNP
12	g.76347192G>C	CA6694285	BBS10	c.793C>G (p.Gln265Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347192G=	CA2047353659	BBS10	c.793C= (p.Gln265=)
12	g.76347192G>T	CA385814157	BBS10	c.793C>A (p.Gln265Lys)
12	g.76347193A>C	CA385814169	BBS10	c.792T>G (p.Ile264Met)
12	g.76347193A>G	CA481011501	BBS10	c.792T>C (p.Ile264=)
12	g.76347193A>T	CA481011502	BBS10	c.792T>A (p.Ile264=)
12	g.76347194A=	CA2047353660	BBS10	c.791T= (p.Ile264=)
12	g.76347194A>C	CA385814172	BBS10	c.791T>G (p.Ile264Ser)	ClinVar dbSNP COSMIC
12	g.76347194A>G	CA385814175	BBS10	c.791T>C (p.Ile264Thr)
12	g.76347194A>T	CA385814178	BBS10	c.791T>A (p.Ile264Asn)
12	g.76347195T>A	CA385814186	BBS10	c.790A>T (p.Ile264Phe)
12	g.76347195T>C	CA385814188	BBS10	c.790A>G (p.Ile264Val)
12	g.76347195T>G	CA385814180	BBS10	c.790A>C (p.Ile264Leu)
12	g.76347196G>A	CA481011503	BBS10	c.789C>T (p.Thr263=)
12	g.76347196G>C	CA481011504	BBS10	c.789C>G (p.Thr263=)
12	g.76347196G>T	CA481011505	BBS10	c.789C>A (p.Thr263=)
12	g.76347196_76347197insTAAA	CA2551758807	BBS10	c.788_789insTTTA (p.Ile264LeufsTer?)
12	g.76347197G>A	CA6694286	BBS10	c.788C>T (p.Thr263Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347197G>C	CA385814191	BBS10	c.788C>G (p.Thr263Ser)
12	g.76347197G=	CA2047353661	BBS10	c.788C= (p.Thr263=)
12	g.76347197G>T	CA385814194	BBS10	c.788C>A (p.Thr263Asn)
12	g.76347198T>A	CA385814198	BBS10	c.787A>T (p.Thr263Ser)
12	g.76347198T>C	CA385814201	BBS10	c.787A>G (p.Thr263Ala)
12	g.76347198T>G	CA385814203	BBS10	c.787A>C (p.Thr263Pro)
12	g.76347199T>A	CA385814205	BBS10	c.786A>T (p.Glu262Asp)
12	g.76347199T>C	CA481011506	BBS10	c.786A>G (p.Glu262=)
12	g.76347199T>G	CA385814208	BBS10	c.786A>C (p.Glu262Asp)
12	g.76347199_76347201delinsTTC	CA2047353662	BBS10	c.784_786delinsGAA (p.Glu262=)
12	g.76347200_76347202del	CA912974172	BBS10	c.784_786del (p.Glu262del)
12	g.76347200T>A	CA385814212	BBS10	c.785A>T (p.Glu262Val)
12	g.76347200T>C	CA385814215	BBS10	c.785A>G (p.Glu262Gly)
12	g.76347200T>G	CA385814216	BBS10	c.785A>C (p.Glu262Ala)	gnomAD v4
12	g.76347201_76347202del	CA658823432	BBS10	c.784_785del (p.Glu262AsnfsTer?)	ClinVar dbSNP
12	g.76347201C>A	CA385814217	BBS10	c.784G>T (p.Glu262Ter)
12	g.76347201C>G	CA385814219	BBS10	c.784G>C (p.Glu262Gln)
12	g.76347201C>T	CA385814220	BBS10	c.784G>A (p.Glu262Lys)	gnomAD v4
12	g.76347202T>A	CA481011507	BBS10	c.783A>T (p.Thr261=)
12	g.76347202T>C	CA6694287	BBS10	c.783A>G (p.Thr261=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347202T>G	CA481011508	BBS10	c.783A>C (p.Thr261=)
12	g.76347202T=	CA2047353663	BBS10	c.783A= (p.Thr261=)
12	g.76347203G>A	CA385814223	BBS10	c.782C>T (p.Thr261Ile)
12	g.76347203G>C	CA385814225	BBS10	c.782C>G (p.Thr261Arg)
12	g.76347203G>T	CA385814226	BBS10	c.782C>A (p.Thr261Lys)
12	g.76347204T>A	CA385814228	BBS10	c.781A>T (p.Thr261Ser)
12	g.76347204T>C	CA385814230	BBS10	c.781A>G (p.Thr261Ala)
12	g.76347204T>G	CA385814238	BBS10	c.781A>C (p.Thr261Pro)
12	g.76347205T>A	CA481011509	BBS10	c.780A>T (p.Val260=)
12	g.76347205T>C	CA481011510	BBS10	c.780A>G (p.Val260=)	dbSNP
12	g.76347205T>G	CA481011511	BBS10	c.780A>C (p.Val260=)
12	g.76347205T=	CA2047353664	BBS10	c.780A= (p.Val260=)
12	g.76347206A>C	CA385814241	BBS10	c.779T>G (p.Val260Gly)
12	g.76347206A>G	CA385814242	BBS10	c.779T>C (p.Val260Ala)
12	g.76347206A>T	CA385814243	BBS10	c.779T>A (p.Val260Glu)
12	g.76347207C>A	CA385814244	BBS10	c.778G>T (p.Val260Leu)	gnomAD v4
12	g.76347207C=	CA2047353665	BBS10	c.778G= (p.Val260=)
12	g.76347207C>G	CA385814246	BBS10	c.778G>C (p.Val260Leu)
12	g.76347207C>T	CA385814247	BBS10	c.778G>A (p.Val260Ile)	dbSNP gnomAD v4
12	g.76347208T>A	CA481011513	BBS10	c.777A>T (p.Ile259=)
12	g.76347208T>C	CA385814249	BBS10	c.777A>G (p.Ile259Met)	gnomAD v4
12	g.76347208T>G	CA481011512	BBS10	c.777A>C (p.Ile259=)
12	g.76347209A>C	CA385814255	BBS10	c.776T>G (p.Ile259Arg)
12	g.76347209A>G	CA385814256	BBS10	c.776T>C (p.Ile259Thr)
12	g.76347209A>T	CA385814254	BBS10	c.776T>A (p.Ile259Lys)
12	g.76347210T>A	CA385814257	BBS10	c.775A>T (p.Ile259Leu)
12	g.76347210T>C	CA385814258	BBS10	c.775A>G (p.Ile259Val)	gnomAD v4
12	g.76347210T>G	CA385814260	BBS10	c.775A>C (p.Ile259Leu)
12	g.76347211C>A	CA481011514	BBS10	c.774G>T (p.Val258=)
12	g.76347211C>G	CA481011515	BBS10	c.774G>C (p.Val258=)	gnomAD v4
12	g.76347211C>T	CA481011516	BBS10	c.774G>A (p.Val258=)
12	g.76347212del	CA2619945601	BBS10	c.773del (p.Val258GlyfsTer2)	gnomAD v4
12	g.76347212A=	CA2047353666	BBS10	c.773T= (p.Val258=)
12	g.76347212A>C	CA385814263	BBS10	c.773T>G (p.Val258Gly)
12	g.76347212A>G	CA385814265	BBS10	c.773T>C (p.Val258Ala)	dbSNP
12	g.76347212A>T	CA385814268	BBS10	c.773T>A (p.Val258Glu)
12	g.76347213C>A	CA385814271	BBS10	c.772G>T (p.Val258Leu)
12	g.76347213C=	CA2047353667	BBS10	c.772G= (p.Val258=)
12	g.76347213C>G	CA385814273	BBS10	c.772G>C (p.Val258Leu)
12	g.76347213C>T	CA385814275	BBS10	c.772G>A (p.Val258Met)	dbSNP gnomAD v3 gnomAD v4
12	g.76347214C>A	CA385814279	BBS10	c.771G>T (p.Met257Ile)
12	g.76347214C=	CA2047353668	BBS10	c.771G= (p.Met257=)
12	g.76347214C>G	CA385814281	BBS10	c.771G>C (p.Met257Ile)
12	g.76347214C>T	CA239332229	BBS10	c.771G>A (p.Met257Ile)	dbSNP
12	g.76347215A=	CA2047353669	BBS10	c.770T= (p.Met257=)
12	g.76347215A>C	CA385814294	BBS10	c.770T>G (p.Met257Arg)
12	g.76347215A>G	CA385814302	BBS10	c.770T>C (p.Met257Thr)
12	g.76347215A>T	CA385814291	BBS10	c.770T>A (p.Met257Lys)	dbSNP
12	g.76347216T>A	CA385814306	BBS10	c.769A>T (p.Met257Leu)	dbSNP gnomAD v3 gnomAD v4
12	g.76347216T>C	CA6694288	BBS10	c.769A>G (p.Met257Val)	dbSNP ExAC gnomAD v2
12	g.76347216T>G	CA385814310	BBS10	c.769A>C (p.Met257Leu)
12	g.76347216T=	CA2047353670	BBS10	c.769A= (p.Met257=)
12	g.76347217T>A	CA481011517	BBS10	c.768A>T (p.Arg256=)
12	g.76347217T>C	CA481011518	BBS10	c.768A>G (p.Arg256=)
12	g.76347217T>G	CA481011519	BBS10	c.768A>C (p.Arg256=)	dbSNP gnomAD v3 gnomAD v4
12	g.76347217T=	CA2047353671	BBS10	c.768A= (p.Arg256=)
12	g.76347218C>A	CA6694289	BBS10	c.767G>T (p.Arg256Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347218C=	CA2047353672	BBS10	c.767G= (p.Arg256=)
12	g.76347218C>G	CA385814314	BBS10	c.767G>C (p.Arg256Pro)	dbSNP
12	g.76347218C>T	CA385814315	BBS10	c.767G>A (p.Arg256Gln)	gnomAD v4
12	g.76347219G>A	CA501144	BBS10	c.766C>T (p.Arg256Ter)	ClinVar dbSNP COSMIC
12	g.76347219G>C	CA385814320	BBS10	c.766C>G (p.Arg256Gly)	dbSNP
12	g.76347219G=	CA2047353673	BBS10	c.766C= (p.Arg256=)
12	g.76347219G>T	CA481011520	BBS10	c.766C>A (p.Arg256=)
12	g.76347220C>A	CA385814323	BBS10	c.765G>T (p.Met255Ile)
12	g.76347220C=	CA2047353674	BBS10	c.765G= (p.Met255=)
12	g.76347220C>G	CA385814325	BBS10	c.765G>C (p.Met255Ile)
12	g.76347220C>T	CA6694290	BBS10	c.765G>A (p.Met255Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347221A=	CA2047353675	BBS10	c.764T= (p.Met255=)
12	g.76347221A>C	CA385814330	BBS10	c.764T>G (p.Met255Arg)
12	g.76347221A>G	CA385814331	BBS10	c.764T>C (p.Met255Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.76347221A>T	CA385814332	BBS10	c.764T>A (p.Met255Lys)
12	g.76347222T>A	CA385814348	BBS10	c.763A>T (p.Met255Leu)
12	g.76347222T>C	CA6694291	BBS10	c.763A>G (p.Met255Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347222T>G	CA385814335	BBS10	c.763A>C (p.Met255Leu)
12	g.76347222T=	CA2047353676	BBS10	c.763A= (p.Met255=)
12	g.76347223G>A	CA481011521	BBS10	c.762C>T (p.Asp254=)	ClinVar dbSNP gnomAD v4
12	g.76347223G>C	CA385814356	BBS10	c.762C>G (p.Asp254Glu)
12	g.76347223G>T	CA385814358	BBS10	c.762C>A (p.Asp254Glu)
12	g.76347224T>A	CA385814361	BBS10	c.761A>T (p.Asp254Val)
12	g.76347224T>C	CA385814363	BBS10	c.761A>G (p.Asp254Gly)	COSMIC
12	g.76347224T>G	CA385814367	BBS10	c.761A>C (p.Asp254Ala)
12	g.76347225C>A	CA385814371	BBS10	c.760G>T (p.Asp254Tyr)
12	g.76347225C>G	CA385814373	BBS10	c.760G>C (p.Asp254His)
12	g.76347225C>T	CA385814374	BBS10	c.760G>A (p.Asp254Asn)
12	g.76347226A>C	CA481011522	BBS10	c.759T>G (p.Gly253=)
12	g.76347226A>G	CA481011523	BBS10	c.759T>C (p.Gly253=)
12	g.76347226A>T	CA481011524	BBS10	c.759T>A (p.Gly253=)
12	g.76347226_76347227delinsAC	CA2047353677	BBS10	c.758_759delinsGT (p.Gly253=)
12	g.76347227C>A	CA385814380	BBS10	c.758G>T (p.Gly253Val)
12	g.76347227C=	CA2047353678	BBS10	c.758G= (p.Gly253=)
12	g.76347227C>G	CA385814383	BBS10	c.758G>C (p.Gly253Ala)
12	g.76347227C>T	CA385814385	BBS10	c.758G>A (p.Gly253Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347228del	CA6694292	BBS10	c.758del (p.Gly253ValfsTer6)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347228C>A	CA385814388	BBS10	c.757G>T (p.Gly253Cys)
12	g.76347228C=	CA2047353679	BBS10	c.757G= (p.Gly253=)
12	g.76347228C>G	CA385814391	BBS10	c.757G>C (p.Gly253Arg)
12	g.76347228C>T	CA385814392	BBS10	c.757G>A (p.Gly253Ser)	dbSNP gnomAD v3 gnomAD v4
12	g.76347229A=	CA2047353680	BBS10	c.756T= (p.Asp252=)
12	g.76347229A>C	CA385814411	BBS10	c.756T>G (p.Asp252Glu)
12	g.76347229A>G	CA6694293	BBS10	c.756T>C (p.Asp252=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347229A>T	CA385814396	BBS10	c.756T>A (p.Asp252Glu)
12	g.76347230T>A	CA385814415	BBS10	c.755A>T (p.Asp252Val)
12	g.76347230T>C	CA385814417	BBS10	c.755A>G (p.Asp252Gly)	gnomAD v4
12	g.76347230T>G	CA385814419	BBS10	c.755A>C (p.Asp252Ala)
12	g.76347231C>A	CA385814422	BBS10	c.754G>T (p.Asp252Tyr)
12	g.76347231C>G	CA385814425	BBS10	c.754G>C (p.Asp252His)
12	g.76347231C>T	CA385814427	BBS10	c.754G>A (p.Asp252Asn)
12	g.76347232T>A	CA481011525	BBS10	c.753A>T (p.Ala251=)
12	g.76347232T>C	CA6694294	BBS10	c.753A>G (p.Ala251=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347232T>G	CA481011526	BBS10	c.753A>C (p.Ala251=)
12	g.76347232T=	CA2047353681	BBS10	c.753A= (p.Ala251=)
12	g.76347233G>A	CA6694295	BBS10	c.752C>T (p.Ala251Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347233G>C	CA385814432	BBS10	c.752C>G (p.Ala251Gly)
12	g.76347233G=	CA2047353682	BBS10	c.752C= (p.Ala251=)
12	g.76347233G>T	CA385814435	BBS10	c.752C>A (p.Ala251Glu)	ClinVar gnomAD v4
12	g.76347234C>A	CA385814437	BBS10	c.751G>T (p.Ala251Ser)
12	g.76347234C>G	CA385814438	BBS10	c.751G>C (p.Ala251Pro)
12	g.76347234C>T	CA385814440	BBS10	c.751G>A (p.Ala251Thr)
12	g.76347235T>A	CA481011527	BBS10	c.750A>T (p.Pro250=)
12	g.76347235T>C	CA481011529	BBS10	c.750A>G (p.Pro250=)	ClinVar dbSNP gnomAD v4
12	g.76347235T>G	CA481011528	BBS10	c.750A>C (p.Pro250=)
12	g.76347236G>A	CA385814444	BBS10	c.749C>T (p.Pro250Leu)	gnomAD v4
12	g.76347236G>C	CA385814447	BBS10	c.749C>G (p.Pro250Arg)
12	g.76347236G>T	CA385814442	BBS10	c.749C>A (p.Pro250Gln)
12	g.76347237G>A	CA385814450	BBS10	c.748C>T (p.Pro250Ser)	dbSNP
12	g.76347237G>C	CA385814451	BBS10	c.748C>G (p.Pro250Ala)
12	g.76347237G>T	CA385814454	BBS10	c.748C>A (p.Pro250Thr)
12	g.76347238G>A	CA481011530	BBS10	c.747C>T (p.Arg249=)
12	g.76347238G>C	CA481011531	BBS10	c.747C>G (p.Arg249=)
12	g.76347238G>T	CA481011532	BBS10	c.747C>A (p.Arg249=)
12	g.76347239C>A	CA385814459	BBS10	c.746G>T (p.Arg249Leu)
12	g.76347239C=	CA2047353683	BBS10	c.746G= (p.Arg249=)
12	g.76347239C>G	CA385814461	BBS10	c.746G>C (p.Arg249Pro)
12	g.76347239C>T	CA385814464	BBS10	c.746G>A (p.Arg249His)	gnomAD v4 COSMIC
12	g.76347239_76347240insTA	CA658823433	BBS10	c.745_746insTA (p.Arg249LeufsTer11)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.76347240G>A	CA385814468	BBS10	c.745C>T (p.Arg249Cys)	ClinVar dbSNP gnomAD v4
12	g.76347240G>C	CA385814469	BBS10	c.745C>G (p.Arg249Gly)
12	g.76347240G=	CA2047353684	BBS10	c.745C= (p.Arg249=)
12	g.76347240G>T	CA385814470	BBS10	c.745C>A (p.Arg249Ser)	COSMIC

Number of alleles fetched