Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76346932A>C	CA385812979	BBS10	c.1053T>G (p.Phe351Leu)
12	g.76346932A>G	CA481011391	BBS10	c.1053T>C (p.Phe351=)
12	g.76346932A>T	CA385812981	BBS10	c.1053T>A (p.Phe351Leu)
12	g.76346933A>C	CA385812983	BBS10	c.1052T>G (p.Phe351Cys)
12	g.76346933A>G	CA385812984	BBS10	c.1052T>C (p.Phe351Ser)
12	g.76346933A>T	CA385812989	BBS10	c.1052T>A (p.Phe351Tyr)
12	g.76346934A>C	CA385812995	BBS10	c.1051T>G (p.Phe351Val)
12	g.76346934A>G	CA385812992	BBS10	c.1051T>C (p.Phe351Leu)	gnomAD v4
12	g.76346934A>T	CA385812993	BBS10	c.1051T>A (p.Phe351Ile)
12	g.76346935T>A	CA481011394	BBS10	c.1050A>T (p.Pro350=)
12	g.76346935T>C	CA6694235	BBS10	c.1050A>G (p.Pro350=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346935T>G	CA481011395	BBS10	c.1050A>C (p.Pro350=)	dbSNP
12	g.76346935T=	CA2047353549	BBS10	c.1050A= (p.Pro350=)
12	g.76346936G>A	CA385812999	BBS10	c.1049C>T (p.Pro350Leu)
12	g.76346936G>C	CA385813000	BBS10	c.1049C>G (p.Pro350Arg)
12	g.76346936G>T	CA385813003	BBS10	c.1049C>A (p.Pro350Gln)
12	g.76346937G>A	CA385813006	BBS10	c.1048C>T (p.Pro350Ser)	gnomAD v4 COSMIC
12	g.76346937G>C	CA385813007	BBS10	c.1048C>G (p.Pro350Ala)
12	g.76346937G=	CA2047353550	BBS10	c.1048C= (p.Pro350=)
12	g.76346937G>T	CA385813009	BBS10	c.1048C>A (p.Pro350Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346938A>C	CA481011399	BBS10	c.1047T>G (p.Ser349=)
12	g.76346938A>G	CA481011400	BBS10	c.1047T>C (p.Ser349=)
12	g.76346938A>T	CA481011401	BBS10	c.1047T>A (p.Ser349=)
12	g.76346939G>A	CA385813011	BBS10	c.1046C>T (p.Ser349Phe)
12	g.76346939G>C	CA385813013	BBS10	c.1046C>G (p.Ser349Cys)
12	g.76346939G>T	CA385813014	BBS10	c.1046C>A (p.Ser349Tyr)
12	g.76346939_76346941delinsGAA	CA2047353551	BBS10	c.1044_1046delinsTTC (p.Leu348=)
12	g.76346940A>C	CA385813019	BBS10	c.1045T>G (p.Ser349Ala)
12	g.76346940A>G	CA385813017	BBS10	c.1045T>C (p.Ser349Pro)
12	g.76346940A>T	CA385813021	BBS10	c.1045T>A (p.Ser349Thr)	gnomAD v4
12	g.76346941_76346942del	CA259913	BBS10	c.1044_1045del (p.Pro350IlefsTer11)	ClinVar dbSNP gnomAD v4
12	g.76346941A=	CA2047353552	BBS10	c.1044T= (p.Leu348=)
12	g.76346941A>C	CA481011404	BBS10	c.1044T>G (p.Leu348=)
12	g.76346941A>G	CA481011405	BBS10	c.1044T>C (p.Leu348=)	dbSNP
12	g.76346941A>T	CA481011406	BBS10	c.1044T>A (p.Leu348=)
12	g.76346942A>C	CA385813024	BBS10	c.1043T>G (p.Leu348Arg)	gnomAD v4
12	g.76346942A>G	CA385813026	BBS10	c.1043T>C (p.Leu348Pro)
12	g.76346942A>T	CA385813028	BBS10	c.1043T>A (p.Leu348His)
12	g.76346943G>A	CA385813030	BBS10	c.1042C>T (p.Leu348Phe)	gnomAD v4
12	g.76346943G>C	CA385813031	BBS10	c.1042C>G (p.Leu348Val)
12	g.76346943G>T	CA385813033	BBS10	c.1042C>A (p.Leu348Ile)
12	g.76346944A=	CA2047353553	BBS10	c.1041T= (p.Gly347=)
12	g.76346944A>C	CA481011407	BBS10	c.1041T>G (p.Gly347=)	ClinVar
12	g.76346944A>G	CA6694236	BBS10	c.1041T>C (p.Gly347=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346944A>T	CA481011408	BBS10	c.1041T>A (p.Gly347=)
12	g.76346945C>A	CA385813037	BBS10	c.1040G>T (p.Gly347Val)	gnomAD v4
12	g.76346945C=	CA2047353554	BBS10	c.1040G= (p.Gly347=)
12	g.76346945C>G	CA385813039	BBS10	c.1040G>C (p.Gly347Ala)
12	g.76346945C>T	CA6694237	BBS10	c.1040G>A (p.Gly347Asp)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346946C>A	CA385813043	BBS10	c.1039G>T (p.Gly347Cys)
12	g.76346946C=	CA2047353555	BBS10	c.1039G= (p.Gly347=)
12	g.76346946C>G	CA6694238	BBS10	c.1039G>C (p.Gly347Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346946C>T	CA385813044	BBS10	c.1039G>A (p.Gly347Ser)	dbSNP
12	g.76346947A=	CA2047353556	BBS10	c.1038T= (p.Ile346=)
12	g.76346947A>C	CA385813047	BBS10	c.1038T>G (p.Ile346Met)	dbSNP gnomAD v2 gnomAD v4
12	g.76346947A>G	CA481011411	BBS10	c.1038T>C (p.Ile346=)	ClinVar
12	g.76346947A>T	CA481011412	BBS10	c.1038T>A (p.Ile346=)
12	g.76346948A=	CA2047353557	BBS10	c.1037T= (p.Ile346=)
12	g.76346948A>C	CA385813049	BBS10	c.1037T>G (p.Ile346Ser)
12	g.76346948A>G	CA6694239	BBS10	c.1037T>C (p.Ile346Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346948A>T	CA385813052	BBS10	c.1037T>A (p.Ile346Asn)
12	g.76346949T>A	CA385813054	BBS10	c.1036A>T (p.Ile346Phe)
12	g.76346949T>C	CA6694240	BBS10	c.1036A>G (p.Ile346Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346949T>G	CA385813055	BBS10	c.1036A>C (p.Ile346Leu)
12	g.76346949T=	CA2047353558	BBS10	c.1036A= (p.Ile346=)
12	g.76346950G>A	CA481011418	BBS10	c.1035C>T (p.Ile345=)	ClinVar dbSNP
12	g.76346950G>C	CA385813056	BBS10	c.1035C>G (p.Ile345Met)
12	g.76346950G=	CA2047353559	BBS10	c.1035C= (p.Ile345=)
12	g.76346950G>T	CA481011419	BBS10	c.1035C>A (p.Ile345=)
12	g.76346951A=	CA2047353560	BBS10	c.1034T= (p.Ile345=)
12	g.76346951A>C	CA385813059	BBS10	c.1034T>G (p.Ile345Ser)
12	g.76346951A>G	CA6694241	BBS10	c.1034T>C (p.Ile345Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346951A>T	CA385813061	BBS10	c.1034T>A (p.Ile345Asn)	gnomAD v4
12	g.76346952T>A	CA385813063	BBS10	c.1033A>T (p.Ile345Phe)
12	g.76346952T>C	CA385813064	BBS10	c.1033A>G (p.Ile345Val)
12	g.76346952T>G	CA385813066	BBS10	c.1033A>C (p.Ile345Leu)
12	g.76346953C>A	CA6694242	BBS10	c.1032G>T (p.Arg344Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346953C=	CA2047353561	BBS10	c.1032G= (p.Arg344=)
12	g.76346953C>G	CA385813070	BBS10	c.1032G>C (p.Arg344Ser)
12	g.76346953C>T	CA481011424	BBS10	c.1032G>A (p.Arg344=)
12	g.76346954del	CA2739291694	BBS10	c.1032del (p.Ile345SerfsTer24)
12	g.76346954C>A	CA385813072	BBS10	c.1031G>T (p.Arg344Met)	gnomAD v4
12	g.76346954C>G	CA385813079	BBS10	c.1031G>C (p.Arg344Thr)
12	g.76346954C>T	CA385813076	BBS10	c.1031G>A (p.Arg344Lys)	gnomAD v4
12	g.76346955T>A	CA385813081	BBS10	c.1030A>T (p.Arg344Trp)	COSMIC
12	g.76346955T>C	CA385813084	BBS10	c.1030A>G (p.Arg344Gly)
12	g.76346955T>G	CA481011426	BBS10	c.1030A>C (p.Arg344=)
12	g.76346956C>A	CA481011431	BBS10	c.1029G>T (p.Arg343=)
12	g.76346956C>G	CA481011432	BBS10	c.1029G>C (p.Arg343=)
12	g.76346956C>T	CA481011433	BBS10	c.1029G>A (p.Arg343=)
12	g.76346957C>A	CA385813086	BBS10	c.1028G>T (p.Arg343Leu)
12	g.76346957C=	CA2047353562	BBS10	c.1028G= (p.Arg343=)
12	g.76346957C>G	CA385813087	BBS10	c.1028G>C (p.Arg343Pro)
12	g.76346957C>T	CA6694243	BBS10	c.1028G>A (p.Arg343Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346958G>A	CA6694244	BBS10	c.1027C>T (p.Arg343Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346958G>C	CA385813089	BBS10	c.1027C>G (p.Arg343Gly)	gnomAD v4
12	g.76346958G=	CA2047353563	BBS10	c.1027C= (p.Arg343=)
12	g.76346958G>T	CA481011434	BBS10	c.1027C>A (p.Arg343=)	COSMIC
12	g.76346959G>A	CA481011435	BBS10	c.1026C>T (p.Ile342=)	ClinVar dbSNP
12	g.76346959G>C	CA385813091	BBS10	c.1026C>G (p.Ile342Met)
12	g.76346959G>T	CA481011436	BBS10	c.1026C>A (p.Ile342=)
12	g.76346960A=	CA2047353564	BBS10	c.1025T= (p.Ile342=)
12	g.76346960A>C	CA385813095	BBS10	c.1025T>G (p.Ile342Ser)	gnomAD v4
12	g.76346960A>G	CA385813096	BBS10	c.1025T>C (p.Ile342Thr)	ClinVar dbSNP
12	g.76346960A>T	CA385813098	BBS10	c.1025T>A (p.Ile342Asn)
12	g.76346960_76346961delinsAT	CA2047353565	BBS10	c.1024_1025delinsAT (p.Ile342=)
12	g.76346960_76346975del	CA645577111	BBS10	c.1010_1025del (p.Glu337AlafsTer27)	COSMIC
12	g.76346961del	CA6694245	BBS10	c.1024del (p.Ile342SerfsTer27)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346961T>A	CA385813103	BBS10	c.1024A>T (p.Ile342Phe)	gnomAD v4
12	g.76346961T>C	CA385813105	BBS10	c.1024A>G (p.Ile342Val)
12	g.76346961T>G	CA385813107	BBS10	c.1024A>C (p.Ile342Leu)
12	g.76346961dup	CA356961	BBS10	c.1024dup (p.Ile342AsnfsTer20)	ClinVar dbSNP
12	g.76346962A>C	CA481011442	BBS10	c.1023T>G (p.Leu341=)
12	g.76346962A>G	CA481011443	BBS10	c.1023T>C (p.Leu341=)
12	g.76346962A>T	CA481011444	BBS10	c.1023T>A (p.Leu341=)
12	g.76346963A>C	CA385813111	BBS10	c.1022T>G (p.Leu341Arg)
12	g.76346963A>G	CA385813114	BBS10	c.1022T>C (p.Leu341Pro)
12	g.76346963A>T	CA385813112	BBS10	c.1022T>A (p.Leu341His)
12	g.76346964G>A	CA385813115	BBS10	c.1021C>T (p.Leu341Phe)	gnomAD v4
12	g.76346964G>C	CA385813117	BBS10	c.1021C>G (p.Leu341Val)
12	g.76346964G>T	CA385813119	BBS10	c.1021C>A (p.Leu341Ile)
12	g.76346965A>C	CA481011446	BBS10	c.1020T>G (p.Ser340=)
12	g.76346965A>G	CA481011447	BBS10	c.1020T>C (p.Ser340=)
12	g.76346965A>T	CA481011448	BBS10	c.1020T>A (p.Ser340=)
12	g.76346966G>A	CA385813121	BBS10	c.1019C>T (p.Ser340Phe)
12	g.76346966G>C	CA385813123	BBS10	c.1019C>G (p.Ser340Cys)	gnomAD v4
12	g.76346966G>T	CA385813125	BBS10	c.1019C>A (p.Ser340Tyr)
12	g.76346967A>C	CA385813127	BBS10	c.1018T>G (p.Ser340Ala)
12	g.76346967A>G	CA385813129	BBS10	c.1018T>C (p.Ser340Pro)
12	g.76346967A>T	CA385813131	BBS10	c.1018T>A (p.Ser340Thr)
12	g.76346968A>C	CA481011452	BBS10	c.1017T>G (p.Val339=)
12	g.76346968A>G	CA481011453	BBS10	c.1017T>C (p.Val339=)
12	g.76346968A>T	CA481011454	BBS10	c.1017T>A (p.Val339=)
12	g.76346969A=	CA2047353567	BBS10	c.1016T= (p.Val339=)
12	g.76346969A>C	CA385813136	BBS10	c.1016T>G (p.Val339Gly)
12	g.76346969A>G	CA385813137	BBS10	c.1016T>C (p.Val339Ala)
12	g.76346969A>T	CA385813134	BBS10	c.1016T>A (p.Val339Asp)	ClinVar dbSNP gnomAD v4
12	g.76346969_76346972delinsACTT	CA2047353566	BBS10	c.1013_1016delinsAAGT (p.Glu338=)
12	g.76346970C>A	CA385813139	BBS10	c.1015G>T (p.Val339Phe)
12	g.76346970C>G	CA385813141	BBS10	c.1015G>C (p.Val339Leu)
12	g.76346970C>T	CA385813143	BBS10	c.1015G>A (p.Val339Ile)
12	g.76346975_76346977del	CA6694246	BBS10	c.1013_1015del (p.Glu338del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.76346971T>A	CA385813147	BBS10	c.1014A>T (p.Glu338Asp)
12	g.76346971T>C	CA481011455	BBS10	c.1014A>G (p.Glu338=)	ClinVar dbSNP
12	g.76346971T>G	CA385813149	BBS10	c.1014A>C (p.Glu338Asp)
12	g.76346971_76346973delinsTTC	CA2047353568	BBS10	c.1012_1014delinsGAA (p.Glu338=)
12	g.76346972T>A	CA385813151	BBS10	c.1013A>T (p.Glu338Val)
12	g.76346972T>C	CA385813152	BBS10	c.1013A>G (p.Glu338Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346972T>G	CA385813154	BBS10	c.1013A>C (p.Glu338Ala)
12	g.76346972T=	CA2047353569	BBS10	c.1013A= (p.Glu338=)
12	g.76346973_76346974del	CA16041583	BBS10	c.1012_1013del (p.Glu338SerfsTer23)	ClinVar dbSNP
12	g.76346973C>A	CA385813156	BBS10	c.1012G>T (p.Glu338Ter)
12	g.76346973C=	CA2047353570	BBS10	c.1012G= (p.Glu338=)
12	g.76346973C>G	CA385813158	BBS10	c.1012G>C (p.Glu338Gln)
12	g.76346973C>T	CA6694247	BBS10	c.1012G>A (p.Glu338Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346974T>A	CA385813161	BBS10	c.1011A>T (p.Glu337Asp)
12	g.76346974T>C	CA481011459	BBS10	c.1011A>G (p.Glu337=)
12	g.76346974T>G	CA385813163	BBS10	c.1011A>C (p.Glu337Asp)	dbSNP
12	g.76346974T=	CA2047353571	BBS10	c.1011A= (p.Glu337=)
12	g.76346975T>A	CA385813166	BBS10	c.1010A>T (p.Glu337Val)
12	g.76346975T>C	CA6694248	BBS10	c.1010A>G (p.Glu337Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346975T>G	CA6694249	BBS10	c.1010A>C (p.Glu337Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346975T=	CA2047353572	BBS10	c.1010A= (p.Glu337=)
12	g.76346975_76346976delinsGA	CA2580086684	BBS10	c.1009_1010delinsTC (p.Glu337Ser)	ClinVar
12	g.76346976C>A	CA6694250	BBS10	c.1009G>T (p.Glu337Ter)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346976C=	CA2047353573	BBS10	c.1009G= (p.Glu337=)
12	g.76346976C>G	CA385813171	BBS10	c.1009G>C (p.Glu337Gln)
12	g.76346976C>T	CA385813173	BBS10	c.1009G>A (p.Glu337Lys)	gnomAD v4
12	g.76346976_76346979del	CA912974171	BBS10	c.1006_1009del (p.Ser336LysfsTer?)
12	g.76346976_76346979delinsCTGA	CA2047353574	BBS10	c.1006_1009delinsTCAG (p.Ser336=)
12	g.76346977T>A	CA481011461	BBS10	c.1008A>T (p.Ser336=)
12	g.76346977T>C	CA481011462	BBS10	c.1008A>G (p.Ser336=)
12	g.76346977T>G	CA481011463	BBS10	c.1008A>C (p.Ser336=)	dbSNP gnomAD v3 gnomAD v4
12	g.76346977T=	CA2047353575	BBS10	c.1008A= (p.Ser336=)
12	g.76346981_76346983del	CA658823430	BBS10	c.1006_1008del (p.Ser336del)	ClinVar dbSNP
12	g.76346978G>A	CA385813176	BBS10	c.1007C>T (p.Ser336Leu)
12	g.76346978G>C	CA385813178	BBS10	c.1007C>G (p.Ser336Ter)	ClinVar dbSNP
12	g.76346978G=	CA2047353576	BBS10	c.1007C= (p.Ser336=)
12	g.76346978G>T	CA385813180	BBS10	c.1007C>A (p.Ser336Ter)	gnomAD v4
12	g.76346979A=	CA2047353577	BBS10	c.1006T= (p.Ser336=)
12	g.76346979A>C	CA385813182	BBS10	c.1006T>G (p.Ser336Ala)
12	g.76346979A>G	CA6694251	BBS10	c.1006T>C (p.Ser336Pro)	dbSNP ExAC gnomAD v4
12	g.76346979A>T	CA385813185	BBS10	c.1006T>A (p.Ser336Thr)
12	g.76346980T>A	CA481011469	BBS10	c.1005A>T (p.Ser335=)
12	g.76346980T>C	CA481011470	BBS10	c.1005A>G (p.Ser335=)	ClinVar gnomAD v4
12	g.76346980T>G	CA481011468	BBS10	c.1005A>C (p.Ser335=)
12	g.76346980_76346981insTA	CA2619945592	BBS10	c.1004_1005insTA (p.Ser336AsnfsTer?)	gnomAD v4
12	g.76346981G>A	CA385813190	BBS10	c.1004C>T (p.Ser335Leu)	gnomAD v4
12	g.76346981G>C	CA385813192	BBS10	c.1004C>G (p.Ser335Ter)
12	g.76346981G>T	CA385813188	BBS10	c.1004C>A (p.Ser335Ter)	gnomAD v4
12	g.76346982A>C	CA385813198	BBS10	c.1003T>G (p.Ser335Ala)
12	g.76346982A>G	CA385813194	BBS10	c.1003T>C (p.Ser335Pro)
12	g.76346982A>T	CA385813196	BBS10	c.1003T>A (p.Ser335Thr)
12	g.76346983T>A	CA385813200	BBS10	c.1002A>T (p.Leu334Phe)
12	g.76346983T>C	CA481011473	BBS10	c.1002A>G (p.Leu334=)
12	g.76346983T>G	CA385813202	BBS10	c.1002A>C (p.Leu334Phe)	gnomAD v4
12	g.76346984A=	CA2047353578	BBS10	c.1001T= (p.Leu334=)
12	g.76346984A>C	CA385813204	BBS10	c.1001T>G (p.Leu334Ter)
12	g.76346984A>G	CA385813206	BBS10	c.1001T>C (p.Leu334Ser)	dbSNP
12	g.76346984A>T	CA385813208	BBS10	c.1001T>A (p.Leu334Ter)
12	g.76346984_76346985insTC	CA658823431	BBS10	c.1000_1001insGA (p.Leu334Ter)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.76346985A>C	CA385813210	BBS10	c.1000T>G (p.Leu334Val)
12	g.76346985A>G	CA481011475	BBS10	c.1000T>C (p.Leu334=)
12	g.76346985A>T	CA385813212	BBS10	c.1000T>A (p.Leu334Ile)
12	g.76346986A=	CA2047353579	BBS10	c.999T= (p.Cys333=)
12	g.76346986A>C	CA385813214	BBS10	c.999T>G (p.Cys333Trp)	dbSNP
12	g.76346986A>G	CA481011476	BBS10	c.999T>C (p.Cys333=)	ClinVar dbSNP
12	g.76346986A>T	CA385813216	BBS10	c.999T>A (p.Cys333Ter)	ClinVar dbSNP
12	g.76346986_76346990del	CA2580582986	BBS10	c.995_999del (p.Glu332ValfsTer28)
12	g.76346987C>A	CA385813222	BBS10	c.998G>T (p.Cys333Phe)
12	g.76346987C>G	CA385813220	BBS10	c.998G>C (p.Cys333Ser)
12	g.76346987C>T	CA385813218	BBS10	c.998G>A (p.Cys333Tyr)
12	g.76346988A>C	CA385813223	BBS10	c.997T>G (p.Cys333Gly)
12	g.76346988A>G	CA385813224	BBS10	c.997T>C (p.Cys333Arg)
12	g.76346988A>T	CA385813227	BBS10	c.997T>A (p.Cys333Ser)
12	g.76346989C>A	CA385813228	BBS10	c.996G>T (p.Glu332Asp)	gnomAD v4
12	g.76346989C=	CA2047353580	BBS10	c.996G= (p.Glu332=)
12	g.76346989C>G	CA385813230	BBS10	c.996G>C (p.Glu332Asp)	dbSNP gnomAD v2 gnomAD v4
12	g.76346989C>T	CA6694252	BBS10	c.996G>A (p.Glu332=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346989_76346990insATGTGCATT	CA2530552745	BBS10	c.995_996insAATGCACAT (p.Glu332_Cys333insMetHisMet)
12	g.76346990T>A	CA385813233	BBS10	c.995A>T (p.Glu332Val)
12	g.76346990T>C	CA385813235	BBS10	c.995A>G (p.Glu332Gly)
12	g.76346990T>G	CA385813237	BBS10	c.995A>C (p.Glu332Ala)
12	g.76346991C>A	CA385813239	BBS10	c.994G>T (p.Glu332Ter)
12	g.76346991C>G	CA385813241	BBS10	c.994G>C (p.Glu332Gln)
12	g.76346991C>T	CA385813243	BBS10	c.994G>A (p.Glu332Lys)
12	g.76346992A>C	CA481011575	BBS10	c.993T>G (p.Val331=)
12	g.76346992A>G	CA481011576	BBS10	c.993T>C (p.Val331=)
12	g.76346992A>T	CA481011577	BBS10	c.993T>A (p.Val331=)
12	g.76346993A>C	CA385813251	BBS10	c.992T>G (p.Val331Gly)
12	g.76346993A>G	CA385813253	BBS10	c.992T>C (p.Val331Ala)	ClinVar gnomAD v4
12	g.76346993A>T	CA385813249	BBS10	c.992T>A (p.Val331Asp)
12	g.76346994C>A	CA385813256	BBS10	c.991G>T (p.Val331Phe)
12	g.76346994C>G	CA385813257	BBS10	c.991G>C (p.Val331Leu)
12	g.76346994C>T	CA385813259	BBS10	c.991G>A (p.Val331Ile)
12	g.76346995C>A	CA481011578	BBS10	c.990G>T (p.Val330=)
12	g.76346995C>G	CA481011579	BBS10	c.990G>C (p.Val330=)
12	g.76346995C>T	CA481011580	BBS10	c.990G>A (p.Val330=)
12	g.76346996A>C	CA385813262	BBS10	c.989T>G (p.Val330Gly)
12	g.76346996A>G	CA385813263	BBS10	c.989T>C (p.Val330Ala)	gnomAD v4
12	g.76346996A>T	CA385813265	BBS10	c.989T>A (p.Val330Glu)
12	g.76346997C>A	CA385813268	BBS10	c.988G>T (p.Val330Leu)	gnomAD v4
12	g.76346997C=	CA2047353581	BBS10	c.988G= (p.Val330=)
12	g.76346997C>G	CA385813269	BBS10	c.988G>C (p.Val330Leu)
12	g.76346997C>T	CA385813271	BBS10	c.988G>A (p.Val330Met)	dbSNP gnomAD v2
12	g.76346998T>A	CA481011583	BBS10	c.987A>T (p.Ser329=)
12	g.76346998T>C	CA481011582	BBS10	c.987A>G (p.Ser329=)
12	g.76346998T>G	CA481011581	BBS10	c.987A>C (p.Ser329=)
12	g.76346999G>A	CA239332125	BBS10	c.986C>T (p.Ser329Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.76346999G>C	CA385813275	BBS10	c.986C>G (p.Ser329Ter)
12	g.76346999G=	CA2047353582	BBS10	c.986C= (p.Ser329=)
12	g.76346999G>T	CA385813277	BBS10	c.986C>A (p.Ser329Ter)	gnomAD v4
12	g.76347000A>C	CA385813282	BBS10	c.985T>G (p.Ser329Ala)
12	g.76347000A>G	CA385813284	BBS10	c.985T>C (p.Ser329Pro)	gnomAD v4
12	g.76347000A>T	CA385813280	BBS10	c.985T>A (p.Ser329Thr)
12	g.76347001T>A	CA481011584	BBS10	c.984A>T (p.Ile328=)
12	g.76347001T>C	CA385813286	BBS10	c.984A>G (p.Ile328Met)
12	g.76347001T>G	CA481011585	BBS10	c.984A>C (p.Ile328=)
12	g.76347002A>C	CA385813288	BBS10	c.983T>G (p.Ile328Arg)
12	g.76347002A>G	CA385813290	BBS10	c.983T>C (p.Ile328Thr)
12	g.76347002A>T	CA385813292	BBS10	c.983T>A (p.Ile328Lys)
12	g.76347003T>A	CA385813294	BBS10	c.982A>T (p.Ile328Leu)
12	g.76347003T>C	CA385813295	BBS10	c.982A>G (p.Ile328Val)	dbSNP gnomAD v2 gnomAD v4
12	g.76347003T>G	CA385813298	BBS10	c.982A>C (p.Ile328Leu)
12	g.76347003T=	CA2047353583	BBS10	c.982A= (p.Ile328=)
12	g.76347003_76347005del	CA2796591356	BBS10	c.980_982del (p.Gly327_Ile328delinsVal)
12	g.76347004G>A	CA481011586	BBS10	c.981C>T (p.Gly327=)
12	g.76347004G>C	CA481011588	BBS10	c.981C>G (p.Gly327=)
12	g.76347004G>T	CA481011587	BBS10	c.981C>A (p.Gly327=)
12	g.76347005C>A	CA385813300	BBS10	c.980G>T (p.Gly327Val)
12	g.76347005C>G	CA385813304	BBS10	c.980G>C (p.Gly327Ala)
12	g.76347005C>T	CA385813302	BBS10	c.980G>A (p.Gly327Asp)
12	g.76347006C>A	CA385813306	BBS10	c.979G>T (p.Gly327Cys)
12	g.76347006C>G	CA385813308	BBS10	c.979G>C (p.Gly327Arg)	gnomAD v4
12	g.76347006C>T	CA385813309	BBS10	c.979G>A (p.Gly327Ser)	gnomAD v4
12	g.76347007A>C	CA385813311	BBS10	c.978T>G (p.Asn326Lys)
12	g.76347007A>G	CA481011590	BBS10	c.978T>C (p.Asn326=)
12	g.76347007A>T	CA385813312	BBS10	c.978T>A (p.Asn326Lys)
12	g.76347008T>A	CA385813316	BBS10	c.977A>T (p.Asn326Ile)
12	g.76347008T>C	CA385813318	BBS10	c.977A>G (p.Asn326Ser)	dbSNP
12	g.76347008T>G	CA385813314	BBS10	c.977A>C (p.Asn326Thr)
12	g.76347008T=	CA2047353584	BBS10	c.977A= (p.Asn326=)
12	g.76347009T>A	CA385813322	BBS10	c.976A>T (p.Asn326Tyr)
12	g.76347009T>C	CA385813320	BBS10	c.976A>G (p.Asn326Asp)
12	g.76347009T>G	CA385813324	BBS10	c.976A>C (p.Asn326His)	gnomAD v4
12	g.76347010C>A	CA481011592	BBS10	c.975G>T (p.Val325=)
12	g.76347010C=	CA2047353585	BBS10	c.975G= (p.Val325=)
12	g.76347010C>G	CA481011594	BBS10	c.975G>C (p.Val325=)
12	g.76347010C>T	CA481011595	BBS10	c.975G>A (p.Val325=)	ClinVar dbSNP gnomAD v4
12	g.76347011A=	CA2047353586	BBS10	c.974T= (p.Val325=)
12	g.76347011A>C	CA385813326	BBS10	c.974T>G (p.Val325Gly)
12	g.76347011A>G	CA385813328	BBS10	c.974T>C (p.Val325Ala)	dbSNP gnomAD v2 gnomAD v4
12	g.76347011A>T	CA385813330	BBS10	c.974T>A (p.Val325Glu)
12	g.76347012C>A	CA385813332	BBS10	c.973G>T (p.Val325Leu)	gnomAD v4
12	g.76347012C=	CA2047353587	BBS10	c.973G= (p.Val325=)
12	g.76347012C>G	CA385813334	BBS10	c.973G>C (p.Val325Leu)
12	g.76347012C>T	CA385813336	BBS10	c.973G>A (p.Val325Met)	dbSNP gnomAD v4
12	g.76347013C>A	CA481011599	BBS10	c.972G>T (p.Gly324=)
12	g.76347013C>G	CA481011597	BBS10	c.972G>C (p.Gly324=)
12	g.76347013C>T	CA481011596	BBS10	c.972G>A (p.Gly324=)	gnomAD v4
12	g.76347014C>A	CA385813337	BBS10	c.971G>T (p.Gly324Val)
12	g.76347014C=	CA2047353588	BBS10	c.971G= (p.Gly324=)
12	g.76347014C>G	CA385813339	BBS10	c.971G>C (p.Gly324Ala)
12	g.76347014C>T	CA385813340	BBS10	c.971G>A (p.Gly324Glu)	dbSNP gnomAD v2 gnomAD v4
12	g.76347015C>A	CA385813342	BBS10	c.970G>T (p.Gly324Trp)	gnomAD v4
12	g.76347015C=	CA2047353589	BBS10	c.970G= (p.Gly324=)
12	g.76347015C>G	CA385813343	BBS10	c.970G>C (p.Gly324Arg)	dbSNP
12	g.76347015C>T	CA385813344	BBS10	c.970G>A (p.Gly324Arg)
12	g.76347016T>A	CA481011601	BBS10	c.969A>T (p.Ala323=)
12	g.76347016T>C	CA481011602	BBS10	c.969A>G (p.Ala323=)	ClinVar dbSNP gnomAD v4
12	g.76347016T>G	CA481011603	BBS10	c.969A>C (p.Ala323=)	ClinVar
12	g.76347016T=	CA2047353590	BBS10	c.969A= (p.Ala323=)
12	g.76347017G>A	CA385813351	BBS10	c.968C>T (p.Ala323Val)	ClinVar gnomAD v4
12	g.76347017G>C	CA385813346	BBS10	c.968C>G (p.Ala323Gly)
12	g.76347017G>T	CA385813349	BBS10	c.968C>A (p.Ala323Glu)	gnomAD v4
12	g.76347018C>A	CA385813355	BBS10	c.967G>T (p.Ala323Ser)	ClinVar
12	g.76347018C>G	CA385813357	BBS10	c.967G>C (p.Ala323Pro)
12	g.76347018C>T	CA385813360	BBS10	c.967G>A (p.Ala323Thr)
12	g.76347019A=	CA2047353591	BBS10	c.966T= (p.Tyr322=)
12	g.76347019A>C	CA385813363	BBS10	c.966T>G (p.Tyr322Ter)
12	g.76347019A>G	CA6694253	BBS10	c.966T>C (p.Tyr322=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347019A>T	CA385813367	BBS10	c.966T>A (p.Tyr322Ter)
12	g.76347019dup	CA2619945595	BBS10	c.966dup (p.Ala323CysfsTer10)	gnomAD v4
12	g.76347023_76347025dup	CA2619945594	BBS10	c.964_966dup (p.Tyr322_Ala323insTyr)	gnomAD v4
12	g.76347023_76347025del	CA2575230729	BBS10	c.964_966del (p.Tyr322del)	gnomAD v4
12	g.76347020T>A	CA385813372	BBS10	c.965A>T (p.Tyr322Phe)
12	g.76347020T>C	CA6694254	BBS10	c.965A>G (p.Tyr322Cys)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347020T>G	CA385813375	BBS10	c.965A>C (p.Tyr322Ser)
12	g.76347020T=	CA2047353592	BBS10	c.965A= (p.Tyr322=)
12	g.76347021A=	CA2047353593	BBS10	c.964T= (p.Tyr322=)
12	g.76347021A>C	CA385813378	BBS10	c.964T>G (p.Tyr322Asp)
12	g.76347021A>G	CA385813380	BBS10	c.964T>C (p.Tyr322His)	dbSNP gnomAD v2 gnomAD v4
12	g.76347021A>T	CA385813386	BBS10	c.964T>A (p.Tyr322Asn)
12	g.76347022A=	CA2047353595	BBS10	c.963T= (p.Tyr321=)
12	g.76347022A>C	CA385813396	BBS10	c.963T>G (p.Tyr321Ter)	ClinVar dbSNP
12	g.76347022A>G	CA6694255	BBS10	c.963T>C (p.Tyr321=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347022A>T	CA385813390	BBS10	c.963T>A (p.Tyr321Ter)
12	g.76347022_76347026delinsATAAC	CA2047353594	BBS10	c.959_963delinsGTTAT (p.Ser320=)
12	g.76347023T>A	CA385813401	BBS10	c.962A>T (p.Tyr321Phe)
12	g.76347023T>C	CA6694257	BBS10	c.962A>G (p.Tyr321Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347023T>G	CA385813405	BBS10	c.962A>C (p.Tyr321Ser)
12	g.76347023T=	CA2047353596	BBS10	c.962A= (p.Tyr321=)
12	g.76347030_76347033del	CA6694256	BBS10	c.959_962del (p.Ser320IlefsTer5)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347024A>C	CA385813411	BBS10	c.961T>G (p.Tyr321Asp)
12	g.76347024A>G	CA385813413	BBS10	c.961T>C (p.Tyr321His)
12	g.76347024A>T	CA385813421	BBS10	c.961T>A (p.Tyr321Asn)
12	g.76347025A=	CA2047353597	BBS10	c.960T= (p.Ser320=)
12	g.76347025A>C	CA385813424	BBS10	c.960T>G (p.Ser320Arg)	gnomAD v4
12	g.76347025A>G	CA481011613	BBS10	c.960T>C (p.Ser320=)
12	g.76347025A>T	CA385813425	BBS10	c.960T>A (p.Ser320Arg)	dbSNP
12	g.76347026C>A	CA385813429	BBS10	c.959G>T (p.Ser320Ile)	dbSNP
12	g.76347026C>G	CA385813431	BBS10	c.959G>C (p.Ser320Thr)
12	g.76347026C>T	CA385813433	BBS10	c.959G>A (p.Ser320Asn)
12	g.76347027T>A	CA385813437	BBS10	c.958A>T (p.Ser320Cys)
12	g.76347027T>C	CA385813439	BBS10	c.958A>G (p.Ser320Gly)
12	g.76347027T>G	CA385813435	BBS10	c.958A>C (p.Ser320Arg)
12	g.76347028A=	CA2047353598	BBS10	c.957T= (p.Val319=)
12	g.76347028A>C	CA481011617	BBS10	c.957T>G (p.Val319=)
12	g.76347028A>G	CA6694258	BBS10	c.957T>C (p.Val319=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76347028A>T	CA481011618	BBS10	c.957T>A (p.Val319=)
12	g.76347029A=	CA2047353599	BBS10	c.956T= (p.Val319=)
12	g.76347029A>C	CA6694259	BBS10	c.956T>G (p.Val319Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76347029A>G	CA385813445	BBS10	c.956T>C (p.Val319Ala)
12	g.76347029A>T	CA385813447	BBS10	c.956T>A (p.Val319Asp)
12	g.76347030C>A	CA385813451	BBS10	c.955G>T (p.Val319Phe)
12	g.76347030C=	CA2047353600	BBS10	c.955G= (p.Val319=)
12	g.76347030C>G	CA6694260	BBS10	c.955G>C (p.Val319Leu)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
12	g.76347030C>T	CA385813450	BBS10	c.955G>A (p.Val319Ile)
12	g.76347031T>A	CA239332138	BBS10	c.954A>T (p.Leu318Phe)	dbSNP gnomAD v2
12	g.76347031T>C	CA481011620	BBS10	c.954A>G (p.Leu318=)	gnomAD v4
12	g.76347031T>G	CA385813457	BBS10	c.954A>C (p.Leu318Phe)
12	g.76347031T=	CA2047353601	BBS10	c.954A= (p.Leu318=)
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

Number of alleles fetched