Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76346960_76346975del	CA645577111	BBS10	c.1010_1025del (p.Glu337AlafsTer27)	COSMIC
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
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)

Number of alleles fetched