Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76345727G>T	CA2575230713	BBS10	c.86C>A (n.86C>A)	gnomAD v4
12	g.76345728A>C	CA2619945543	BBS10	c.85T>G (n.85T>G)	gnomAD v4
12	g.76345730C>A	CA2796591350	BBS10	c.83G>T (n.83G>T)
12	g.76345731T>C	CA2619945544	BBS10	c.82A>G (n.82A>G)	gnomAD v4
12	g.76345732G>C	CA606185880	BBS10	c.81C>G (n.81C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345732G=	CA2047353003	BBS10	c.81C= (n.81C=)
12	g.76345732G>T	CA2619945545	BBS10	c.81C>A (n.81C>A)	gnomAD v4
12	g.76345733A=	CA2047353004	BBS10	c.80T= (n.80T=)
12	g.76345733A>C	CA2599466265	BBS10	c.80T>G (n.80T>G)	dbSNP gnomAD v3 gnomAD v4
12	g.76345733A>G	CA239331369	BBS10	c.80T>C (n.80T>C)	dbSNP gnomAD v3 gnomAD v4
12	g.76345734C>A	CA2619945546	BBS10	c.79G>T (n.79G>T)	gnomAD v4
12	g.76345735T>C	CA2575230715	BBS10	c.78A>G (n.78A>G)	gnomAD v4
12	g.76345737del	CA2575230714	BBS10	c.78del (n.78del)	gnomAD v4
12	g.76345739G>A	CA2508810828	BBS10	c.74C>T (n.74C>T)
12	g.76345739G>T	CA2619945547	BBS10	c.74C>A (n.74C>A)	gnomAD v4
12	g.76345740A=	CA2047353005	BBS10	c.73T= (n.73T=)
12	g.76345740A>T	CA2047353006	BBS10	c.73T>A (n.73T>A)	dbSNP gnomAD v3 gnomAD v4
12	g.76345742C>T	CA2619945548	BBS10	c.71G>A (n.71G>A)	gnomAD v4
12	g.76345743C>A	CA2619945549	BBS10	c.70G>T (n.70G>T)	gnomAD v4
12	g.76345743C=	CA2047353008	BBS10	c.70G= (n.70G=)
12	g.76345743C>G	CA2047353007	BBS10	c.70G>C (n.70G>C)	dbSNP
12	g.76345744A>C	CA2619945550	BBS10	c.69T>G (n.69T>G)	gnomAD v4
12	g.76345745G>C	CA949387498	BBS10	c.68C>G (n.68C>G)	dbSNP gnomAD v3 gnomAD v4
12	g.76345745G=	CA2047353009	BBS10	c.68C= (n.68C=)
12	g.76345746T>C	CA2047353011	BBS10	c.67A>G (n.67A>G)	dbSNP gnomAD v4
12	g.76345746T=	CA2047353010	BBS10	c.67A= (n.67A=)
12	g.76345747G>T	CA2575230717	BBS10	c.66C>A (n.66C>A)	gnomAD v4
12	g.76345748del	CA2575230716	BBS10	c.66del (n.66del)	gnomAD v4
12	g.76345748G>A	CA2619945552	BBS10	c.65C>T (n.65C>T)	gnomAD v4
12	g.76345748G>T	CA2619945551	BBS10	c.65C>A (n.65C>A)	gnomAD v4
12	g.76345749T>C	CA2575230718	BBS10	c.64A>G (n.64A>G)
12	g.76345750C>A	CA2619945553	BBS10	c.63G>T (n.63G>T)	gnomAD v4
12	g.76345751A>T	CA2619945554	BBS10	c.62T>A (n.62T>A)	gnomAD v4
12	g.76345752C>T	CA2619945555	BBS10	c.61G>A (n.61G>A)	gnomAD v4
12	g.76345753A>G	CA2619945557	BBS10	c.60T>C (n.60T>C)	gnomAD v4
12	g.76345753_76345754del	CA2619945556	BBS10	c.59_60del (n.59_60del)	gnomAD v4
12	g.76345754T>A	CA2619945558	BBS10	c.59A>T (n.59A>T)	gnomAD v4
12	g.76345755G>A	CA949387501	BBS10	c.58C>T (n.58C>T)	dbSNP gnomAD v3 gnomAD v4
12	g.76345755G=	CA2047353012	BBS10	c.58C= (n.58C=)
12	g.76345755G>T	CA2619945559	BBS10	c.58C>A (n.58C>A)	gnomAD v4
12	g.76345757del	CA2726584257	BBS10	c.56del (n.56del)	dbSNP
12	g.76345757C>T	CA2575230719	BBS10	c.56G>A (n.56G>A)
12	g.76345758T>C	CA2619945560	BBS10	c.55A>G (n.55A>G)	gnomAD v4
12	g.76345759G>T	CA2619945561	BBS10	c.54C>A (n.54C>A)	gnomAD v4
12	g.76345760C>T	CA2796591351	BBS10	c.53G>A (n.53G>A)
12	g.76345761T>C	CA2619945562	BBS10	c.52A>G (n.52A>G)	gnomAD v4
12	g.76345762T>C	CA606185881	BBS10	c.51A>G (n.51A>G)	dbSNP gnomAD v2 gnomAD v4
12	g.76345762T=	CA2047353013	BBS10	c.51A= (n.51A=)
12	g.76345764A=	CA2047353014	BBS10	c.49T= (n.49T=)
12	g.76345764A>G	CA2047353015	BBS10	c.49T>C (n.49T>C)	dbSNP
12	g.76345764A>T	CA2619945563	BBS10	c.49T>A (n.49T>A)	gnomAD v4
12	g.76345765C=	CA2047353016	BBS10	c.48G= (n.48G=)
12	g.76345765C>G	CA1139662785	BBS10	c.48G>C (n.48G>C)	ClinVar dbSNP
12	g.76345766T>C	CA2047353018	BBS10	c.47A>G (n.47A>G)	dbSNP gnomAD v4
12	g.76345766T=	CA2047353017	BBS10	c.47A= (n.47A=)
12	g.76345768G>A	CA2619945564	BBS10	c.45C>T (n.45C>T)	gnomAD v4
12	g.76345768G>C	CA949387509	BBS10	c.45C>G (n.45C>G)	dbSNP gnomAD v3 gnomAD v4
12	g.76345768G=	CA2047353019	BBS10	c.45C= (n.45C=)
12	g.76345768G>T	CA2575230720	BBS10	c.45C>A (n.45C>A)	gnomAD v4
12	g.76345769G>A	CA606185882	BBS10	c.44C>T (n.44C>T)	dbSNP gnomAD v2 gnomAD v4
12	g.76345769G=	CA2047353020	BBS10	c.44C= (n.44C=)
12	g.76345770C>A	CA2619945565	BBS10	c.43G>T (n.43G>T)	gnomAD v4
12	g.76345771T>A	CA691951486	BBS10	c.42A>T (n.42A>T)	dbSNP gnomAD v3 gnomAD v4
12	g.76345771T=	CA2047353021	BBS10	c.42A= (n.42A=)
12	g.76345772T>C	CA2047353023	BBS10	c.41A>G (n.41A>G)	dbSNP
12	g.76345772T>G	CA2619945566	BBS10	c.41A>C (n.41A>C)	gnomAD v4
12	g.76345772T=	CA2047353022	BBS10	c.41A= (n.41A=)
12	g.76345773G>A	CA949387516	BBS10	c.40C>T (n.40C>T)	dbSNP gnomAD v3 gnomAD v4
12	g.76345773G=	CA2047353024	BBS10	c.40C= (n.40C=)
12	g.76345773G>T	CA2619945568	BBS10	c.40C>A (n.40C>A)	gnomAD v4
12	g.76345774_76345775del	CA2619945567	BBS10	c.39_40del (n.39_40del)	gnomAD v4
12	g.76345774A>G	CA2619945569	BBS10	c.39T>C (n.39T>C)	gnomAD v4
12	g.76345775G>T	CA2619945570	BBS10	c.38C>A (n.38C>A)	gnomAD v4
12	g.76345776T>C	CA2047353026	BBS10	c.37A>G (n.37A>G)	dbSNP gnomAD v4
12	g.76345776T=	CA2047353025	BBS10	c.37A= (n.37A=)
12	g.76345777T>C	CA2575230721	BBS10	c.36A>G (n.36A>G)
12	g.76345780A=	CA2047353027	BBS10	c.33T= (n.33T=)
12	g.76345780A>G	CA691951489	BBS10	c.33T>C (n.33T>C)	dbSNP gnomAD v3 gnomAD v4
12	g.76345781T>C	CA6694039	BBS10	c.32A>G (n.32A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345781T=	CA2047353028	BBS10	c.32A= (n.32A=)
12	g.76345783A>C	CA2619945571	BBS10	c.30T>G (n.30T>G)	gnomAD v4
12	g.76345785_76345786del	CA2575230722	BBS10	c.29_30del (n.29_30del)
12	g.76345786A=	CA2047353029	BBS10	c.27T= (n.27T=)
12	g.76345786A>C	CA606185883	BBS10	c.27T>G (n.27T>G)	dbSNP gnomAD v2 gnomAD v4
12	g.76345786A>T	CA606185884	BBS10	c.27T>A (n.27T>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345787G>A	CA2619945572	BBS10	c.26C>T (n.26C>T)	gnomAD v4
12	g.76345787G>T	CA2619945573	BBS10	c.26C>A (n.26C>A)	gnomAD v4
12	g.76345788T>C	CA6694040	BBS10	c.25A>G (n.25A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76345788T=	CA2047353030	BBS10	c.25A= (n.25A=)
12	g.76345789T>G	CA2619945574	BBS10	c.24A>C (n.24A>C)	gnomAD v4
12	g.76345791G>T	CA2619945575	BBS10	c.22C>A (n.22C>A)	gnomAD v4
12	g.76345792G>A	CA949387529	BBS10	c.21C>T (n.21C>T)	dbSNP gnomAD v3 gnomAD v4
12	g.76345792G>C	CA2575230723	BBS10	c.21C>G (n.21C>G)
12	g.76345792G=	CA2047353032	BBS10	c.21C= (n.21C=)
12	g.76345792_76345795del	CA2619945576	BBS10	c.18_21del (n.18_21del)	gnomAD v4
12	g.76345792_76345796delinsGTTAA	CA2047353031	BBS10	c.17_21delinsTTAAC (n.17_21delinsTTAAC)
12	g.76345797_76345800del	CA691951503	BBS10	c.17_20del (n.17_20del)	dbSNP gnomAD v3 gnomAD v4
12	g.76345795A>G	CA2619945577	BBS10	c.18T>C (n.18T>C)	gnomAD v4
12	g.76345796A>C	CA2619945578	BBS10	c.17T>G (n.17T>G)	gnomAD v4
12	g.76345798T>A	CA606185885	BBS10	c.15A>T (n.15A>T)	dbSNP gnomAD v2
12	g.76345798T>G	CA606185886	BBS10	c.15A>C (n.15A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345798T=	CA2047353033	BBS10	c.15A= (n.15A=)
12	g.76345799A>G	CA2619945579	BBS10	c.14T>C (n.14T>C)	gnomAD v4
12	g.76345802A>G	CA2619945580	BBS10	c.11T>C (n.11T>C)	gnomAD v4
12	g.76345804C=	CA2047353035	BBS10	c.9G= (n.9G=)
12	g.76345804C>T	CA2047353036	BBS10	c.9G>A (n.9G>A)	dbSNP
12	g.76345804_76345805delinsCT	CA2047353034	BBS10	c.8_9delinsAG (n.8_9delinsAG)
12	g.76345806del	CA6694041	BBS10	c.8del (n.8del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345806_76345807delinsTC	CA2047353037	BBS10	c.6_7delinsGA (n.6_7delinsGA)
12	g.76345807del	CA6694042	BBS10	c.6del (n.6del)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345807C>A	CA2575230724	BBS10	c.6G>T (n.6G>T)
12	g.76345808T>C	CA2047353039	BBS10	c.5A>G (n.5A>G)	dbSNP
12	g.76345808T>G	CA2575230725	BBS10	c.5A>C (n.5A>C)
12	g.76345808T=	CA2047353038	BBS10	c.5A= (n.5A=)
12	g.76345809G>A	CA6694044	BBS10	c.4C>T (n.4C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76345809G=	CA2047353040	BBS10	c.4C= (n.4C=)
12	g.76345809G>T	CA6694043	BBS10	c.4C>A (n.4C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345810_76345811insGGAAAA	CA2518472747	BBS10	c.3_4insTTTCCT (n.3_4insTTTCCT)
12	g.76345811_76345812insCGCTTCAACCTGGGAGGCAGAG	CA2523010973	BBS10	c.1_2insCTCTGCCTCCCAGGTTGAAGCG (n.1_2insCTCTGCCTCCCAGGTTGAAGCG)
12	g.76345812G>C	CA2619945581	BBS10	c.1C>G (n.1C>G)	gnomAD v4
12	g.76345813T>A	CA385808142	BBS10	c.2172A>T (p.Ter724Tyr)
12	g.76345813T>C	CA481010538	BBS10	c.2172A>G (p.Ter724=)
12	g.76345813T>G	CA385808143	BBS10	c.2172A>C (p.Ter724Tyr)
12	g.76345814T>A	CA385808145	BBS10	c.2171A>T (p.Ter724Leu)
12	g.76345814T>C	CA481010541	BBS10	c.2171A>G (p.Ter724=)
12	g.76345814T>G	CA385808144	BBS10	c.2171A>C (p.Ter724Ser)
12	g.76345815A>C	CA385808146	BBS10	c.2170T>G (p.Ter724Glu)
12	g.76345815A>G	CA385808147	BBS10	c.2170T>C (p.Ter724Gln)
12	g.76345815A>T	CA385808148	BBS10	c.2170T>A (p.Ter724Lys)
12	g.76345816T>A	CA481010546	BBS10	c.2169A>T (p.Leu723=)
12	g.76345816T>C	CA481010547	BBS10	c.2169A>G (p.Leu723=)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.76345816T>G	CA481010548	BBS10	c.2169A>C (p.Leu723=)
12	g.76345816T=	CA2047353041	BBS10	c.2169A= (p.Leu723=)
12	g.76345817A>C	CA385808149	BBS10	c.2168T>G (p.Leu723Arg)
12	g.76345817A>G	CA385808150	BBS10	c.2168T>C (p.Leu723Pro)
12	g.76345817A>T	CA385808151	BBS10	c.2168T>A (p.Leu723Gln)
12	g.76345818G>A	CA481010550	BBS10	c.2167C>T (p.Leu723=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76345818G>C	CA239331396	BBS10	c.2167C>G (p.Leu723Val)	ClinVar dbSNP gnomAD v4
12	g.76345818G=	CA2047353042	BBS10	c.2167C= (p.Leu723=)
12	g.76345818G>T	CA385808152	BBS10	c.2167C>A (p.Leu723Ile)
12	g.76345819T>A	CA385808153	BBS10	c.2166A>T (p.Glu722Asp)
12	g.76345819T>C	CA6694045	BBS10	c.2166A>G (p.Glu722=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345819T>G	CA385808154	BBS10	c.2166A>C (p.Glu722Asp)
12	g.76345819T=	CA2047353043	BBS10	c.2166A= (p.Glu722=)
12	g.76345820T>A	CA385808155	BBS10	c.2165A>T (p.Glu722Val)
12	g.76345820T>C	CA385808156	BBS10	c.2165A>G (p.Glu722Gly)	gnomAD v4
12	g.76345820T>G	CA385808157	BBS10	c.2165A>C (p.Glu722Ala)
12	g.76345821C>A	CA385808160	BBS10	c.2164G>T (p.Glu722Ter)	gnomAD v4
12	g.76345821C>G	CA385808158	BBS10	c.2164G>C (p.Glu722Gln)
12	g.76345821C>T	CA385808159	BBS10	c.2164G>A (p.Glu722Lys)
12	g.76345822A>C	CA385808161	BBS10	c.2163T>G (p.Asp721Glu)
12	g.76345822A>G	CA481010562	BBS10	c.2163T>C (p.Asp721=)
12	g.76345822A>T	CA385808162	BBS10	c.2163T>A (p.Asp721Glu)
12	g.76345823T>A	CA385808163	BBS10	c.2162A>T (p.Asp721Val)
12	g.76345823T>C	CA385808164	BBS10	c.2162A>G (p.Asp721Gly)
12	g.76345823T>G	CA385808165	BBS10	c.2162A>C (p.Asp721Ala)
12	g.76345824C>A	CA385808166	BBS10	c.2161G>T (p.Asp721Tyr)
12	g.76345824C=	CA2047353044	BBS10	c.2161G= (p.Asp721=)
12	g.76345824C>G	CA385808167	BBS10	c.2161G>C (p.Asp721His)
12	g.76345824C>T	CA239331406	BBS10	c.2161G>A (p.Asp721Asn)	dbSNP
12	g.76345825T>A	CA385808168	BBS10	c.2160A>T (p.Glu720Asp)
12	g.76345825T>C	CA481010565	BBS10	c.2160A>G (p.Glu720=)
12	g.76345825T>G	CA385808169	BBS10	c.2160A>C (p.Glu720Asp)
12	g.76345826T>A	CA385808170	BBS10	c.2159A>T (p.Glu720Val)
12	g.76345826T>C	CA385808171	BBS10	c.2159A>G (p.Glu720Gly)
12	g.76345826T>G	CA385808172	BBS10	c.2159A>C (p.Glu720Ala)
12	g.76345827C>A	CA385808173	BBS10	c.2158G>T (p.Glu720Ter)
12	g.76345827C>G	CA385808175	BBS10	c.2158G>C (p.Glu720Gln)
12	g.76345827C>T	CA385808174	BBS10	c.2158G>A (p.Glu720Lys)

Number of alleles fetched