Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76347030_76347033del	CA6694256	BBS10	c.959_962del (p.Ser320IlefsTer5)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347032A>C	CA385813459	BBS10	c.953T>G (p.Leu318Ter)
12	g.76347032A>G	CA385813461	BBS10	c.953T>C (p.Leu318Ser)
12	g.76347032A>T	CA385813463	BBS10	c.953T>A (p.Leu318Ter)
12	g.76347034del	CA2573148993	BBS10	c.953del (p.Leu318Ter)	ClinVar dbSNP
12	g.76347033A=	CA2047353602	BBS10	c.952T= (p.Leu318=)
12	g.76347033A>C	CA6694261	BBS10	c.952T>G (p.Leu318Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347033A>G	CA481011621	BBS10	c.952T>C (p.Leu318=)
12	g.76347033A>T	CA385813466	BBS10	c.952T>A (p.Leu318Ile)
12	g.76347034A>C	CA385813469	BBS10	c.951T>G (p.Asp317Glu)
12	g.76347034A>G	CA481011623	BBS10	c.951T>C (p.Asp317=)	ClinVar
12	g.76347034A>T	CA385813468	BBS10	c.951T>A (p.Asp317Glu)
12	g.76347035T>A	CA385813472	BBS10	c.950A>T (p.Asp317Val)	gnomAD v4
12	g.76347035T>C	CA385813475	BBS10	c.950A>G (p.Asp317Gly)
12	g.76347035T>G	CA385813474	BBS10	c.950A>C (p.Asp317Ala)
12	g.76347036C>A	CA385813478	BBS10	c.949G>T (p.Asp317Tyr)	COSMIC
12	g.76347036C>G	CA385813480	BBS10	c.949G>C (p.Asp317His)
12	g.76347036C>T	CA385813481	BBS10	c.949G>A (p.Asp317Asn)
12	g.76347037T>A	CA481011624	BBS10	c.948A>T (p.Pro316=)
12	g.76347037T>C	CA481011625	BBS10	c.948A>G (p.Pro316=)
12	g.76347037T>G	CA481011626	BBS10	c.948A>C (p.Pro316=)
12	g.76347038G>A	CA385813484	BBS10	c.947C>T (p.Pro316Leu)	gnomAD v4
12	g.76347038G>C	CA385813486	BBS10	c.947C>G (p.Pro316Arg)	gnomAD v4
12	g.76347038G>T	CA385813488	BBS10	c.947C>A (p.Pro316Gln)
12	g.76347039G>A	CA385813494	BBS10	c.946C>T (p.Pro316Ser)
12	g.76347039G>C	CA385813490	BBS10	c.946C>G (p.Pro316Ala)	ClinVar dbSNP
12	g.76347039G>T	CA385813492	BBS10	c.946C>A (p.Pro316Thr)	gnomAD v4
12	g.76347042_76347044del	CA2575230730	BBS10	c.944_946del (p.Gln315del)
12	g.76347040T>A	CA385813496	BBS10	c.945A>T (p.Gln315His)
12	g.76347040T>C	CA481011628	BBS10	c.945A>G (p.Gln315=)	ClinVar dbSNP gnomAD v4
12	g.76347040T>G	CA385813499	BBS10	c.945A>C (p.Gln315His)
12	g.76347041T>A	CA385813500	BBS10	c.944A>T (p.Gln315Leu)
12	g.76347041T>C	CA385813502	BBS10	c.944A>G (p.Gln315Arg)	gnomAD v4
12	g.76347041T>G	CA385813504	BBS10	c.944A>C (p.Gln315Pro)
12	g.76347042G>A	CA385813506	BBS10	c.943C>T (p.Gln315Ter)	ClinVar dbSNP
12	g.76347042G>C	CA385813510	BBS10	c.943C>G (p.Gln315Glu)
12	g.76347042G=	CA2047353603	BBS10	c.943C= (p.Gln315=)
12	g.76347042G>T	CA385813508	BBS10	c.943C>A (p.Gln315Lys)
12	g.76347043T>A	CA385813512	BBS10	c.942A>T (p.Lys314Asn)
12	g.76347043T>C	CA6694262	BBS10	c.942A>G (p.Lys314=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347043T>G	CA385813514	BBS10	c.942A>C (p.Lys314Asn)
12	g.76347043T=	CA2047353604	BBS10	c.942A= (p.Lys314=)
12	g.76347044T>A	CA385813517	BBS10	c.941A>T (p.Lys314Ile)
12	g.76347044T>C	CA385813518	BBS10	c.941A>G (p.Lys314Arg)
12	g.76347044T>G	CA385813520	BBS10	c.941A>C (p.Lys314Thr)	COSMIC
12	g.76347045T>A	CA385813523	BBS10	c.940A>T (p.Lys314Ter)
12	g.76347045T>C	CA385813524	BBS10	c.940A>G (p.Lys314Glu)	dbSNP
12	g.76347045T>G	CA385813525	BBS10	c.940A>C (p.Lys314Gln)
12	g.76347046C>A	CA481011636	BBS10	c.939G>T (p.Val313=)
12	g.76347046C=	CA2047353605	BBS10	c.939G= (p.Val313=)
12	g.76347046C>G	CA481011637	BBS10	c.939G>C (p.Val313=)
12	g.76347046C>T	CA6694263	BBS10	c.939G>A (p.Val313=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347047A>C	CA385813533	BBS10	c.938T>G (p.Val313Gly)
12	g.76347047A>G	CA385813532	BBS10	c.938T>C (p.Val313Ala)
12	g.76347047A>T	CA385813529	BBS10	c.938T>A (p.Val313Glu)
12	g.76347048C>A	CA385813536	BBS10	c.937G>T (p.Val313Leu)
12	g.76347048C>G	CA385813538	BBS10	c.937G>C (p.Val313Leu)
12	g.76347048C>T	CA385813539	BBS10	c.937G>A (p.Val313Met)
12	g.76347049A=	CA2047353606	BBS10	c.936T= (p.Ser312=)
12	g.76347049A>C	CA385813540	BBS10	c.936T>G (p.Ser312Arg)
12	g.76347049A>G	CA6694264	BBS10	c.936T>C (p.Ser312=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347049A>T	CA385813542	BBS10	c.936T>A (p.Ser312Arg)
12	g.76347050C>A	CA385813545	BBS10	c.935G>T (p.Ser312Ile)
12	g.76347050C>G	CA385813547	BBS10	c.935G>C (p.Ser312Thr)
12	g.76347050C>T	CA385813548	BBS10	c.935G>A (p.Ser312Asn)
12	g.76347051T>A	CA385813554	BBS10	c.934A>T (p.Ser312Cys)
12	g.76347051T>C	CA6694265	BBS10	c.934A>G (p.Ser312Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347051T>G	CA385813556	BBS10	c.934A>C (p.Ser312Arg)
12	g.76347051T=	CA2047353607	BBS10	c.934A= (p.Ser312=)
12	g.76347052A>C	CA481011641	BBS10	c.933T>G (p.Ser311=)
12	g.76347052A>G	CA481011642	BBS10	c.933T>C (p.Ser311=)	ClinVar
12	g.76347052A>T	CA481011643	BBS10	c.933T>A (p.Ser311=)
12	g.76347053G>A	CA385813560	BBS10	c.932C>T (p.Ser311Phe)	ClinVar dbSNP gnomAD v4
12	g.76347053G>C	CA385813562	BBS10	c.932C>G (p.Ser311Cys)
12	g.76347053G=	CA2047353608	BBS10	c.932C= (p.Ser311=)
12	g.76347053G>T	CA385813559	BBS10	c.932C>A (p.Ser311Tyr)
12	g.76347054A=	CA2047353609	BBS10	c.931T= (p.Ser311=)
12	g.76347054A>C	CA251748	BBS10	c.931T>G (p.Ser311Ala)	ClinVar dbSNP gnomAD v4
12	g.76347054A>G	CA385813566	BBS10	c.931T>C (p.Ser311Pro)	gnomAD v4
12	g.76347054A>T	CA385813568	BBS10	c.931T>A (p.Ser311Thr)
12	g.76347055T>A	CA481011646	BBS10	c.930A>T (p.Ile310=)
12	g.76347055T>C	CA385813570	BBS10	c.930A>G (p.Ile310Met)	ClinVar
12	g.76347055T>G	CA481011647	BBS10	c.930A>C (p.Ile310=)
12	g.76347055dup	CA2796591357	BBS10	c.930dup (p.Ser311IlefsTer2)
12	g.76347056A>C	CA385813575	BBS10	c.929T>G (p.Ile310Arg)
12	g.76347056A>G	CA385813573	BBS10	c.929T>C (p.Ile310Thr)	gnomAD v4
12	g.76347056A>T	CA385813572	BBS10	c.929T>A (p.Ile310Lys)
12	g.76347057T>A	CA385813577	BBS10	c.928A>T (p.Ile310Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.76347057T>C	CA385813579	BBS10	c.928A>G (p.Ile310Val)	dbSNP gnomAD v4
12	g.76347057T>G	CA385813581	BBS10	c.928A>C (p.Ile310Leu)
12	g.76347057T=	CA2047353610	BBS10	c.928A= (p.Ile310=)
12	g.76347058G>A	CA481011650	BBS10	c.927C>T (p.Leu309=)	gnomAD v4
12	g.76347058G>C	CA481011651	BBS10	c.927C>G (p.Leu309=)	ClinVar gnomAD v4
12	g.76347058G>T	CA481011652	BBS10	c.927C>A (p.Leu309=)
12	g.76347059A=	CA2047353611	BBS10	c.926T= (p.Leu309=)
12	g.76347059A>C	CA385813584	BBS10	c.926T>G (p.Leu309Arg)
12	g.76347059A>G	CA385813588	BBS10	c.926T>C (p.Leu309Pro)	dbSNP gnomAD v2 gnomAD v4
12	g.76347059A>T	CA385813591	BBS10	c.926T>A (p.Leu309His)
12	g.76347060G>A	CA385813594	BBS10	c.925C>T (p.Leu309Phe)	ClinVar dbSNP gnomAD v4 COSMIC
12	g.76347060G>C	CA385813597	BBS10	c.925C>G (p.Leu309Val)
12	g.76347060G>T	CA385813595	BBS10	c.925C>A (p.Leu309Ile)
12	g.76347061C>A	CA385813599	BBS10	c.924G>T (p.Leu308Phe)	ClinVar gnomAD v4
12	g.76347061C>G	CA385813600	BBS10	c.924G>C (p.Leu308Phe)
12	g.76347061C>T	CA481011657	BBS10	c.924G>A (p.Leu308=)
12	g.76347062A>C	CA385813603	BBS10	c.923T>G (p.Leu308Trp)
12	g.76347062A>G	CA385813606	BBS10	c.923T>C (p.Leu308Ser)	ClinVar gnomAD v4
12	g.76347062A>T	CA385813604	BBS10	c.923T>A (p.Leu308Ter)
12	g.76347063A>C	CA385813609	BBS10	c.922T>G (p.Leu308Val)
12	g.76347063A>G	CA481011660	BBS10	c.922T>C (p.Leu308=)
12	g.76347063A>T	CA385813610	BBS10	c.922T>A (p.Leu308Met)
12	g.76347064T>A	CA385813613	BBS10	c.921A>T (p.Lys307Asn)
12	g.76347064T>C	CA481011661	BBS10	c.921A>G (p.Lys307=)
12	g.76347064T>G	CA385813615	BBS10	c.921A>C (p.Lys307Asn)
12	g.76347065T>A	CA385813618	BBS10	c.920A>T (p.Lys307Ile)
12	g.76347065T>C	CA385813619	BBS10	c.920A>G (p.Lys307Arg)
12	g.76347065T>G	CA385813621	BBS10	c.920A>C (p.Lys307Thr)	COSMIC
12	g.76347066T>A	CA385813623	BBS10	c.919A>T (p.Lys307Ter)
12	g.76347066T>C	CA385813624	BBS10	c.919A>G (p.Lys307Glu)
12	g.76347066T>G	CA385813626	BBS10	c.919A>C (p.Lys307Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347066T=	CA2047353612	BBS10	c.919A= (p.Lys307=)
12	g.76347067T>A	CA481011663	BBS10	c.918A>T (p.Val306=)
12	g.76347067T>C	CA481011665	BBS10	c.918A>G (p.Val306=)
12	g.76347067T>G	CA481011664	BBS10	c.918A>C (p.Val306=)
12	g.76347068A>C	CA385813628	BBS10	c.917T>G (p.Val306Gly)
12	g.76347068A>G	CA385813630	BBS10	c.917T>C (p.Val306Ala)
12	g.76347068A>T	CA385813632	BBS10	c.917T>A (p.Val306Glu)
12	g.76347069C>A	CA385813633	BBS10	c.916G>T (p.Val306Leu)
12	g.76347069C>G	CA385813635	BBS10	c.916G>C (p.Val306Leu)
12	g.76347069C>T	CA385813637	BBS10	c.916G>A (p.Val306Ile)
12	g.76347070A>C	CA385813639	BBS10	c.915T>G (p.Asn305Lys)
12	g.76347070A>G	CA481011667	BBS10	c.915T>C (p.Asn305=)
12	g.76347070A>T	CA385813641	BBS10	c.915T>A (p.Asn305Lys)
12	g.76347071T>A	CA385813643	BBS10	c.914A>T (p.Asn305Ile)
12	g.76347071T>C	CA385813645	BBS10	c.914A>G (p.Asn305Ser)
12	g.76347071T>G	CA385813647	BBS10	c.914A>C (p.Asn305Thr)
12	g.76347072T>A	CA385813648	BBS10	c.913A>T (p.Asn305Tyr)
12	g.76347072T>C	CA385813649	BBS10	c.913A>G (p.Asn305Asp)	dbSNP gnomAD v2 gnomAD v4
12	g.76347072T>G	CA385813651	BBS10	c.913A>C (p.Asn305His)
12	g.76347072T=	CA2047353614	BBS10	c.913A= (p.Asn305=)
12	g.76347072_76347076delinsTCTGA	CA2047353613	BBS10	c.909_913delinsTCAGA (p.Ser303=)
12	g.76347073C>A	CA385813654	BBS10	c.912G>T (p.Gln304His)
12	g.76347073C>G	CA385813655	BBS10	c.912G>C (p.Gln304His)
12	g.76347073C>T	CA481011671	BBS10	c.912G>A (p.Gln304=)	ClinVar
12	g.76347075_76347078del	CA6694266	BBS10	c.909_912del (p.Ser303ArgfsTer3)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347074T>A	CA385813658	BBS10	c.911A>T (p.Gln304Leu)
12	g.76347074T>C	CA385813659	BBS10	c.911A>G (p.Gln304Arg)
12	g.76347074T>G	CA385813662	BBS10	c.911A>C (p.Gln304Pro)
12	g.76347075G>A	CA385813668	BBS10	c.910C>T (p.Gln304Ter)
12	g.76347075G>C	CA385813667	BBS10	c.910C>G (p.Gln304Glu)
12	g.76347075G>T	CA385813665	BBS10	c.910C>A (p.Gln304Lys)
12	g.76347076A>C	CA385813672	BBS10	c.909T>G (p.Ser303Arg)
12	g.76347076A>G	CA481011677	BBS10	c.909T>C (p.Ser303=)
12	g.76347076A>T	CA385813670	BBS10	c.909T>A (p.Ser303Arg)
12	g.76347077C>A	CA385813675	BBS10	c.908G>T (p.Ser303Ile)
12	g.76347077C=	CA2047353615	BBS10	c.908G= (p.Ser303=)
12	g.76347077C>G	CA385813678	BBS10	c.908G>C (p.Ser303Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347077C>T	CA385813681	BBS10	c.908G>A (p.Ser303Asn)
12	g.76347078T>A	CA385813683	BBS10	c.907A>T (p.Ser303Cys)
12	g.76347078T>C	CA385813685	BBS10	c.907A>G (p.Ser303Gly)	gnomAD v4
12	g.76347078T>G	CA385813687	BBS10	c.907A>C (p.Ser303Arg)
12	g.76347079A>C	CA385813690	BBS10	c.906T>G (p.His302Gln)	gnomAD v4
12	g.76347079A>G	CA481011683	BBS10	c.906T>C (p.His302=)
12	g.76347079A>T	CA385813688	BBS10	c.906T>A (p.His302Gln)
12	g.76347080T>A	CA385813692	BBS10	c.905A>T (p.His302Leu)
12	g.76347080T>C	CA6694267	BBS10	c.905A>G (p.His302Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347080T>G	CA385813695	BBS10	c.905A>C (p.His302Pro)
12	g.76347080T=	CA2047353616	BBS10	c.905A= (p.His302=)
12	g.76347081G>A	CA239332161	BBS10	c.904C>T (p.His302Tyr)	ClinVar dbSNP gnomAD v4
12	g.76347081G>C	CA385813697	BBS10	c.904C>G (p.His302Asp)
12	g.76347081G=	CA2047353617	BBS10	c.904C= (p.His302=)
12	g.76347081G>T	CA385813700	BBS10	c.904C>A (p.His302Asn)	gnomAD v4
12	g.76347082T>A	CA481011685	BBS10	c.903A>T (p.Leu301=)
12	g.76347082T>C	CA481011688	BBS10	c.903A>G (p.Leu301=)	ClinVar dbSNP gnomAD v4
12	g.76347082T>G	CA481011691	BBS10	c.903A>C (p.Leu301=)
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)
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)

Number of alleles fetched