Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76347083A>C	CA385813702	BBS10	c.902T>G (p.Leu301Arg)
12	g.76347083A>G	CA385813706	BBS10	c.902T>C (p.Leu301Pro)
12	g.76347083A>T	CA385813704	BBS10	c.902T>A (p.Leu301Gln)
12	g.76347083_76347086delinsAGAT	CA2047353618	BBS10	c.899_902delinsATCT (p.His300=)
12	g.76347084G>A	CA481011692	BBS10	c.901C>T (p.Leu301=)
12	g.76347084G>C	CA385813708	BBS10	c.901C>G (p.Leu301Val)	ClinVar dbSNP
12	g.76347084G=	CA2047353619	BBS10	c.901C= (p.Leu301=)
12	g.76347084G>T	CA385813710	BBS10	c.901C>A (p.Leu301Ile)
12	g.76347085_76347087del	CA658797935	BBS10	c.899_901del (p.His300del)	ClinVar dbSNP
12	g.76347085A>C	CA385813712	BBS10	c.900T>G (p.His300Gln)
12	g.76347085A>G	CA481011693	BBS10	c.900T>C (p.His300=)
12	g.76347085A>T	CA385813713	BBS10	c.900T>A (p.His300Gln)
12	g.76347086T>A	CA385813716	BBS10	c.899A>T (p.His300Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.76347086T>C	CA385813718	BBS10	c.899A>G (p.His300Arg)
12	g.76347086T>G	CA6694268	BBS10	c.899A>C (p.His300Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347086T=	CA2047353620	BBS10	c.899A= (p.His300=)
12	g.76347087G>A	CA385813721	BBS10	c.898C>T (p.His300Tyr)
12	g.76347087G>C	CA385813723	BBS10	c.898C>G (p.His300Asp)
12	g.76347087G=	CA2047353621	BBS10	c.898C= (p.His300=)
12	g.76347087G>T	CA385813724	BBS10	c.898C>A (p.His300Asn)
12	g.76347088T>A	CA385813727	BBS10	c.897A>T (p.Lys299Asn)
12	g.76347088T>C	CA481011696	BBS10	c.897A>G (p.Lys299=)
12	g.76347088T>G	CA385813728	BBS10	c.897A>C (p.Lys299Asn)
12	g.76347088_76347091dup	CA691960149	BBS10	c.894_897dup (p.His300GlufsTer5)	ClinVar dbSNP
12	g.76347089T>A	CA385813733	BBS10	c.896A>T (p.Lys299Ile)
12	g.76347089T>C	CA385813735	BBS10	c.896A>G (p.Lys299Arg)
12	g.76347089T>G	CA385813730	BBS10	c.896A>C (p.Lys299Thr)
12	g.76347090T>A	CA385813736	BBS10	c.895A>T (p.Lys299Ter)
12	g.76347090T>C	CA385813740	BBS10	c.895A>G (p.Lys299Glu)
12	g.76347090T>G	CA385813738	BBS10	c.895A>C (p.Lys299Gln)
12	g.76347091C>A	CA385813742	BBS10	c.894G>T (p.Met298Ile)
12	g.76347091C>G	CA385813746	BBS10	c.894G>C (p.Met298Ile)
12	g.76347091C>T	CA385813747	BBS10	c.894G>A (p.Met298Ile)
12	g.76347092A>C	CA385813748	BBS10	c.893T>G (p.Met298Arg)
12	g.76347092A>G	CA385813750	BBS10	c.893T>C (p.Met298Thr)
12	g.76347092A>T	CA385813751	BBS10	c.893T>A (p.Met298Lys)
12	g.76347093T>A	CA385813754	BBS10	c.892A>T (p.Met298Leu)
12	g.76347093T>C	CA385813756	BBS10	c.892A>G (p.Met298Val)	ClinVar
12	g.76347093T>G	CA385813757	BBS10	c.892A>C (p.Met298Leu)
12	g.76347094T>A	CA481011701	BBS10	c.891A>T (p.Ile297=)
12	g.76347094T>C	CA385813758	BBS10	c.891A>G (p.Ile297Met)
12	g.76347094T>G	CA481011702	BBS10	c.891A>C (p.Ile297=)
12	g.76347095A>C	CA385813766	BBS10	c.890T>G (p.Ile297Arg)	gnomAD v4
12	g.76347095A>G	CA385813767	BBS10	c.890T>C (p.Ile297Thr)
12	g.76347095A>T	CA385813770	BBS10	c.890T>A (p.Ile297Lys)
12	g.76347096T>A	CA385813776	BBS10	c.889A>T (p.Ile297Leu)
12	g.76347096T>C	CA385813772	BBS10	c.889A>G (p.Ile297Val)	dbSNP gnomAD v2 gnomAD v4
12	g.76347096T>G	CA385813775	BBS10	c.889A>C (p.Ile297Leu)
12	g.76347096T=	CA2047353622	BBS10	c.889A= (p.Ile297=)
12	g.76347097T>A	CA481011704	BBS10	c.888A>T (p.Ala296=)
12	g.76347097T>C	CA481011706	BBS10	c.888A>G (p.Ala296=)
12	g.76347097T>G	CA481011705	BBS10	c.888A>C (p.Ala296=)
12	g.76347098G>A	CA385813780	BBS10	c.887C>T (p.Ala296Val)
12	g.76347098G>C	CA385813782	BBS10	c.887C>G (p.Ala296Gly)
12	g.76347098G>T	CA385813784	BBS10	c.887C>A (p.Ala296Glu)	gnomAD v4
12	g.76347099C>A	CA385813789	BBS10	c.886G>T (p.Ala296Ser)
12	g.76347099C=	CA2047353623	BBS10	c.886G= (p.Ala296=)
12	g.76347099C>G	CA385813792	BBS10	c.886G>C (p.Ala296Pro)
12	g.76347099C>T	CA6694269	BBS10	c.886G>A (p.Ala296Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347100T>A	CA385813798	BBS10	c.885A>T (p.Lys295Asn)
12	g.76347100T>C	CA481011708	BBS10	c.885A>G (p.Lys295=)
12	g.76347100T>G	CA385813799	BBS10	c.885A>C (p.Lys295Asn)
12	g.76347101T>A	CA385813802	BBS10	c.884A>T (p.Lys295Ile)
12	g.76347101T>C	CA385813804	BBS10	c.884A>G (p.Lys295Arg)
12	g.76347101T>G	CA385813805	BBS10	c.884A>C (p.Lys295Thr)	dbSNP
12	g.76347101T=	CA2047353624	BBS10	c.884A= (p.Lys295=)
12	g.76347102T>A	CA385813812	BBS10	c.883A>T (p.Lys295Ter)	ClinVar dbSNP
12	g.76347102T>C	CA385813810	BBS10	c.883A>G (p.Lys295Glu)	gnomAD v4
12	g.76347102T>G	CA385813808	BBS10	c.883A>C (p.Lys295Gln)
12	g.76347103T>A	CA481011710	BBS10	c.882A>T (p.Thr294=)
12	g.76347103T>C	CA481011711	BBS10	c.882A>G (p.Thr294=)
12	g.76347103T>G	CA481011712	BBS10	c.882A>C (p.Thr294=)
12	g.76347104G>A	CA6694270	BBS10	c.881C>T (p.Thr294Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347104G>C	CA385813814	BBS10	c.881C>G (p.Thr294Arg)	gnomAD v4
12	g.76347104G=	CA2047353625	BBS10	c.881C= (p.Thr294=)
12	g.76347104G>T	CA385813816	BBS10	c.881C>A (p.Thr294Lys)
12	g.76347105T>A	CA385813818	BBS10	c.880A>T (p.Thr294Ser)
12	g.76347105T>C	CA385813819	BBS10	c.880A>G (p.Thr294Ala)
12	g.76347105T>G	CA385813820	BBS10	c.880A>C (p.Thr294Pro)
12	g.76347106C>A	CA385813821	BBS10	c.879G>T (p.Lys293Asn)
12	g.76347106C>G	CA385813822	BBS10	c.879G>C (p.Lys293Asn)	gnomAD v4
12	g.76347106C>T	CA481011717	BBS10	c.879G>A (p.Lys293=)	ClinVar dbSNP gnomAD v4
12	g.76347107T>A	CA385813823	BBS10	c.878A>T (p.Lys293Met)
12	g.76347107T>C	CA385813824	BBS10	c.878A>G (p.Lys293Arg)	gnomAD v4
12	g.76347107T>G	CA385813826	BBS10	c.878A>C (p.Lys293Thr)
12	g.76347108T>A	CA385813828	BBS10	c.877A>T (p.Lys293Ter)
12	g.76347108T>C	CA239332172	BBS10	c.877A>G (p.Lys293Glu)	dbSNP
12	g.76347108T>G	CA385813830	BBS10	c.877A>C (p.Lys293Gln)
12	g.76347108T=	CA2047353626	BBS10	c.877A= (p.Lys293=)
12	g.76347109T>A	CA385813831	BBS10	c.876A>T (p.Glu292Asp)
12	g.76347109T>C	CA481011721	BBS10	c.876A>G (p.Glu292=)	ClinVar dbSNP
12	g.76347109T>G	CA385813832	BBS10	c.876A>C (p.Glu292Asp)
12	g.76347110T>A	CA385813833	BBS10	c.875A>T (p.Glu292Val)
12	g.76347110T>C	CA385813835	BBS10	c.875A>G (p.Glu292Gly)
12	g.76347110T>G	CA385813836	BBS10	c.875A>C (p.Glu292Ala)
12	g.76347111C>A	CA385813837	BBS10	c.874G>T (p.Glu292Ter)	dbSNP gnomAD v2 gnomAD v4
12	g.76347111C=	CA2047353627	BBS10	c.874G= (p.Glu292=)
12	g.76347111C>G	CA385813839	BBS10	c.874G>C (p.Glu292Gln)
12	g.76347111C>T	CA385813840	BBS10	c.874G>A (p.Glu292Lys)
12	g.76347112C>A	CA385813842	BBS10	c.873G>T (p.Met291Ile)	gnomAD v4
12	g.76347112C>G	CA385813844	BBS10	c.873G>C (p.Met291Ile)
12	g.76347112C>T	CA385813846	BBS10	c.873G>A (p.Met291Ile)
12	g.76347113A>C	CA385813848	BBS10	c.872T>G (p.Met291Arg)
12	g.76347113A>G	CA385813851	BBS10	c.872T>C (p.Met291Thr)
12	g.76347113A>T	CA385813852	BBS10	c.872T>A (p.Met291Lys)
12	g.76347114_76347122del	CA2580086685	BBS10	c.864_872del (p.Phe288_Met291delinsLeu)	ClinVar
12	g.76347114T>A	CA385813854	BBS10	c.871A>T (p.Met291Leu)	gnomAD v4
12	g.76347114T>C	CA385813858	BBS10	c.871A>G (p.Met291Val)
12	g.76347114T>G	CA385813856	BBS10	c.871A>C (p.Met291Leu)
12	g.76347115A>C	CA385813859	BBS10	c.870T>G (p.Ile290Met)
12	g.76347115A>G	CA481011727	BBS10	c.870T>C (p.Ile290=)
12	g.76347115A>T	CA481011728	BBS10	c.870T>A (p.Ile290=)
12	g.76347116A>C	CA385813861	BBS10	c.869T>G (p.Ile290Ser)
12	g.76347116A>G	CA385813860	BBS10	c.869T>C (p.Ile290Thr)
12	g.76347116A>T	CA385813862	BBS10	c.869T>A (p.Ile290Asn)
12	g.76347117T>A	CA385813863	BBS10	c.868A>T (p.Ile290Phe)
12	g.76347117T>C	CA385813864	BBS10	c.868A>G (p.Ile290Val)	gnomAD v4
12	g.76347117T>G	CA385813865	BBS10	c.868A>C (p.Ile290Leu)
12	g.76347118C>A	CA385813866	BBS10	c.867G>T (p.Trp289Cys)
12	g.76347118C>G	CA385813867	BBS10	c.867G>C (p.Trp289Cys)
12	g.76347118C>T	CA385813868	BBS10	c.867G>A (p.Trp289Ter)
12	g.76347119C>A	CA385813869	BBS10	c.866G>T (p.Trp289Leu)
12	g.76347119C>G	CA385813870	BBS10	c.866G>C (p.Trp289Ser)
12	g.76347119C>T	CA385813871	BBS10	c.866G>A (p.Trp289Ter)
12	g.76347120A>C	CA385813872	BBS10	c.865T>G (p.Trp289Gly)
12	g.76347120A>G	CA385813873	BBS10	c.865T>C (p.Trp289Arg)
12	g.76347120A>T	CA385813874	BBS10	c.865T>A (p.Trp289Arg)
12	g.76347121A>C	CA385813876	BBS10	c.864T>G (p.Phe288Leu)
12	g.76347121A>G	CA481011403	BBS10	c.864T>C (p.Phe288=)	gnomAD v4
12	g.76347121A>T	CA385813875	BBS10	c.864T>A (p.Phe288Leu)
12	g.76347122A>C	CA385813877	BBS10	c.863T>G (p.Phe288Cys)
12	g.76347122A>G	CA385813878	BBS10	c.863T>C (p.Phe288Ser)
12	g.76347122A>T	CA385813879	BBS10	c.863T>A (p.Phe288Tyr)
12	g.76347122_76347123insCCAAACACACCCAACAC	CA2796591358	BBS10	c.862_863insGTGTTGGGTGTGTTTGG (p.Phe288CysfsTer16)
12	g.76347123A>C	CA385813880	BBS10	c.862T>G (p.Phe288Val)
12	g.76347123A>G	CA385813881	BBS10	c.862T>C (p.Phe288Leu)
12	g.76347123A>T	CA385813882	BBS10	c.862T>A (p.Phe288Ile)
12	g.76347124T>A	CA385813883	BBS10	c.861A>T (p.Gln287His)
12	g.76347124T>C	CA6694271	BBS10	c.861A>G (p.Gln287=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347124T>G	CA385813884	BBS10	c.861A>C (p.Gln287His)
12	g.76347124T=	CA2047353628	BBS10	c.861A= (p.Gln287=)
12	g.76347125T>A	CA385813885	BBS10	c.860A>T (p.Gln287Leu)
12	g.76347125T>C	CA6694272	BBS10	c.860A>G (p.Gln287Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347125T>G	CA385813886	BBS10	c.860A>C (p.Gln287Pro)
12	g.76347125T=	CA2047353629	BBS10	c.860A= (p.Gln287=)
12	g.76347126G>A	CA6694273	BBS10	c.859C>T (p.Gln287Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347126G>C	CA385813888	BBS10	c.859C>G (p.Gln287Glu)
12	g.76347126G=	CA2047353630	BBS10	c.859C= (p.Gln287=)
12	g.76347126G>T	CA385813887	BBS10	c.859C>A (p.Gln287Lys)	gnomAD v4
12	g.76347128_76347129dup	CA16041584	BBS10	c.858_859dup (p.Gln287LeufsTer12)	ClinVar dbSNP gnomAD v2
12	g.76347127A=	CA2047353631	BBS10	c.858T= (p.Ser286=)
12	g.76347127A>C	CA481011413	BBS10	c.858T>G (p.Ser286=)
12	g.76347127A>G	CA481011415	BBS10	c.858T>C (p.Ser286=)	ClinVar dbSNP gnomAD v4
12	g.76347127A>T	CA481011417	BBS10	c.858T>A (p.Ser286=)
12	g.76347128G>A	CA385813889	BBS10	c.857C>T (p.Ser286Phe)
12	g.76347128G>C	CA385813890	BBS10	c.857C>G (p.Ser286Cys)	gnomAD v4
12	g.76347128G>T	CA385813891	BBS10	c.857C>A (p.Ser286Tyr)	gnomAD v4
12	g.76347129A=	CA2047353632	BBS10	c.856T= (p.Ser286=)
12	g.76347129A>C	CA385813892	BBS10	c.856T>G (p.Ser286Ala)
12	g.76347129A>G	CA385813893	BBS10	c.856T>C (p.Ser286Pro)	dbSNP gnomAD v4
12	g.76347129A>T	CA385813894	BBS10	c.856T>A (p.Ser286Thr)
12	g.76347130T>A	CA481011420	BBS10	c.855A>T (p.Thr285=)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.76347130T>C	CA481011422	BBS10	c.855A>G (p.Thr285=)
12	g.76347130T>G	CA481011423	BBS10	c.855A>C (p.Thr285=)
12	g.76347130T=	CA2047353633	BBS10	c.855A= (p.Thr285=)
12	g.76347131G>A	CA385813895	BBS10	c.854C>T (p.Thr285Ile)	gnomAD v4
12	g.76347131G>C	CA385813896	BBS10	c.854C>G (p.Thr285Arg)
12	g.76347131G>T	CA385813897	BBS10	c.854C>A (p.Thr285Lys)
12	g.76347132T>A	CA385813898	BBS10	c.853A>T (p.Thr285Ser)
12	g.76347132T>C	CA385813899	BBS10	c.853A>G (p.Thr285Ala)
12	g.76347132T>G	CA385813900	BBS10	c.853A>C (p.Thr285Pro)
12	g.76347133C>A	CA385813902	BBS10	c.852G>T (p.Gln284His)	gnomAD v4
12	g.76347133C=	CA2047353634	BBS10	c.852G= (p.Gln284=)
12	g.76347133C>G	CA385813901	BBS10	c.852G>C (p.Gln284His)	COSMIC
12	g.76347133C>T	CA481011430	BBS10	c.852G>A (p.Gln284=)	dbSNP
12	g.76347134T>A	CA385813903	BBS10	c.851A>T (p.Gln284Leu)
12	g.76347134T>C	CA6694274	BBS10	c.851A>G (p.Gln284Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347134T>G	CA385813904	BBS10	c.851A>C (p.Gln284Pro)
12	g.76347134T=	CA2047353635	BBS10	c.851A= (p.Gln284=)
12	g.76347135G>A	CA6694275	BBS10	c.850C>T (p.Gln284Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347135G>C	CA385813905	BBS10	c.850C>G (p.Gln284Glu)
12	g.76347135G=	CA2047353636	BBS10	c.850C= (p.Gln284=)
12	g.76347135G>T	CA385813906	BBS10	c.850C>A (p.Gln284Lys)	gnomAD v4
12	g.76347136A>C	CA385813907	BBS10	c.849T>G (p.Phe283Leu)
12	g.76347136A>G	CA481011438	BBS10	c.849T>C (p.Phe283=)
12	g.76347136A>T	CA385813908	BBS10	c.849T>A (p.Phe283Leu)
12	g.76347137A>C	CA385813909	BBS10	c.848T>G (p.Phe283Cys)
12	g.76347137A>G	CA385813910	BBS10	c.848T>C (p.Phe283Ser)
12	g.76347137A>T	CA385813911	BBS10	c.848T>A (p.Phe283Tyr)
12	g.76347138A>C	CA385813912	BBS10	c.847T>G (p.Phe283Val)
12	g.76347138A>G	CA385813913	BBS10	c.847T>C (p.Phe283Leu)	gnomAD v4
12	g.76347138A>T	CA385813914	BBS10	c.847T>A (p.Phe283Ile)
12	g.76347139C>A	CA385813915	BBS10	c.846G>T (p.Gln282His)
12	g.76347139C=	CA2047353637	BBS10	c.846G= (p.Gln282=)
12	g.76347139C>G	CA385813916	BBS10	c.846G>C (p.Gln282His)
12	g.76347139C>T	CA481011445	BBS10	c.846G>A (p.Gln282=)	dbSNP
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)

Number of alleles fetched