Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
12	g.76345828T>A	CA481010571	BBS10	c.2157A>T (p.Ser719=)
12	g.76345828T>C	CA481010572	BBS10	c.2157A>G (p.Ser719=)	ClinVar dbSNP gnomAD v4
12	g.76345828T>G	CA481010573	BBS10	c.2157A>C (p.Ser719=)
12	g.76345828T=	CA2047353045	BBS10	c.2157A= (p.Ser719=)
12	g.76345829G>A	CA385808176	BBS10	c.2156C>T (p.Ser719Leu)
12	g.76345829G>C	CA239331410	BBS10	c.2156C>G (p.Ser719Ter)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.76345829G=	CA2047353046	BBS10	c.2156C= (p.Ser719=)
12	g.76345829G>T	CA385808177	BBS10	c.2156C>A (p.Ser719Ter)
12	g.76345830A>C	CA385808178	BBS10	c.2155T>G (p.Ser719Ala)
12	g.76345830A>G	CA385808179	BBS10	c.2155T>C (p.Ser719Pro)	gnomAD v4
12	g.76345830A>T	CA385808180	BBS10	c.2155T>A (p.Ser719Thr)
12	g.76345831A>C	CA385808181	BBS10	c.2154T>G (p.Asp718Glu)
12	g.76345831A>G	CA481010597	BBS10	c.2154T>C (p.Asp718=)
12	g.76345831A>T	CA385808182	BBS10	c.2154T>A (p.Asp718Glu)
12	g.76345832T>A	CA385808183	BBS10	c.2153A>T (p.Asp718Val)
12	g.76345832T>C	CA385808184	BBS10	c.2153A>G (p.Asp718Gly)
12	g.76345832T>G	CA385808185	BBS10	c.2153A>C (p.Asp718Ala)
12	g.76345833C>A	CA385808188	BBS10	c.2152G>T (p.Asp718Tyr)
12	g.76345833C>G	CA385808187	BBS10	c.2152G>C (p.Asp718His)
12	g.76345833C>T	CA385808186	BBS10	c.2152G>A (p.Asp718Asn)
12	g.76345834T>A	CA385808189	BBS10	c.2151A>T (p.Gln717His)
12	g.76345834T>C	CA481010603	BBS10	c.2151A>G (p.Gln717=)
12	g.76345834T>G	CA385808190	BBS10	c.2151A>C (p.Gln717His)	gnomAD v4
12	g.76345835T>A	CA385808191	BBS10	c.2150A>T (p.Gln717Leu)
12	g.76345835T>C	CA385808192	BBS10	c.2150A>G (p.Gln717Arg)
12	g.76345835T>G	CA385808193	BBS10	c.2150A>C (p.Gln717Pro)
12	g.76345836del	CA645577109	BBS10	c.2149del (p.Gln717LysfsTer13)	COSMIC
12	g.76345836G>A	CA385808194	BBS10	c.2149C>T (p.Gln717Ter)	gnomAD v4
12	g.76345836G>C	CA385808195	BBS10	c.2149C>G (p.Gln717Glu)
12	g.76345836G>T	CA385808196	BBS10	c.2149C>A (p.Gln717Lys)	gnomAD v4
12	g.76345837A>C	CA385808197	BBS10	c.2148T>G (p.Asn716Lys)
12	g.76345837A>G	CA481010604	BBS10	c.2148T>C (p.Asn716=)	COSMIC
12	g.76345837A>T	CA385808198	BBS10	c.2148T>A (p.Asn716Lys)
12	g.76345838T>A	CA385808199	BBS10	c.2147A>T (p.Asn716Ile)	dbSNP
12	g.76345838T>C	CA385808200	BBS10	c.2147A>G (p.Asn716Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.76345838T>G	CA385808201	BBS10	c.2147A>C (p.Asn716Thr)
12	g.76345838T=	CA2047353047	BBS10	c.2147A= (p.Asn716=)
12	g.76345839T>A	CA385808203	BBS10	c.2146A>T (p.Asn716Tyr)
12	g.76345839T>C	CA385808204	BBS10	c.2146A>G (p.Asn716Asp)
12	g.76345839T>G	CA385808202	BBS10	c.2146A>C (p.Asn716His)	ClinVar dbSNP
12	g.76345839T=	CA2047353048	BBS10	c.2146A= (p.Asn716=)
12	g.76345840G>A	CA481010431	BBS10	c.2145C>T (p.His715=)
12	g.76345840G>C	CA385808206	BBS10	c.2145C>G (p.His715Gln)
12	g.76345840G>T	CA385808205	BBS10	c.2145C>A (p.His715Gln)
12	g.76345840_76345844delinsGTGAA	CA2047353049	BBS10	c.2141_2145delinsTTCAC (p.Val714=)
12	g.76345841T>A	CA385808208	BBS10	c.2144A>T (p.His715Leu)
12	g.76345841T>C	CA241800	BBS10	c.2144A>G (p.His715Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76345841T>G	CA385808207	BBS10	c.2144A>C (p.His715Pro)	ClinVar gnomAD v4
12	g.76345841T=	CA2047353050	BBS10	c.2144A= (p.His715=)
12	g.76345841_76345844del	CA949387557	BBS10	c.2141_2144del (p.Val714AlafsTer15)	dbSNP gnomAD v3 gnomAD v4
12	g.76345842G>A	CA385808209	BBS10	c.2143C>T (p.His715Tyr)
12	g.76345842G>C	CA385808210	BBS10	c.2143C>G (p.His715Asp)
12	g.76345842G>T	CA385808211	BBS10	c.2143C>A (p.His715Asn)
12	g.76345843A=	CA2047353051	BBS10	c.2142T= (p.Val714=)
12	g.76345843A>C	CA481010440	BBS10	c.2142T>G (p.Val714=)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.76345843A>G	CA481010441	BBS10	c.2142T>C (p.Val714=)
12	g.76345843A>T	CA481010442	BBS10	c.2142T>A (p.Val714=)
12	g.76345844A>C	CA385808212	BBS10	c.2141T>G (p.Val714Gly)
12	g.76345844A>G	CA385808213	BBS10	c.2141T>C (p.Val714Ala)
12	g.76345844A>T	CA385808214	BBS10	c.2141T>A (p.Val714Asp)
12	g.76345844_76345848delinsACTTT	CA2047353052	BBS10	c.2137_2141delinsAAAGT (p.Lys713=)
12	g.76345845C>A	CA385808215	BBS10	c.2140G>T (p.Val714Phe)
12	g.76345845C>G	CA385808216	BBS10	c.2140G>C (p.Val714Leu)
12	g.76345845C>T	CA385808217	BBS10	c.2140G>A (p.Val714Ile)	dbSNP
12	g.76345847_76345850del	CA658797933	BBS10	c.2137_2140del (p.Lys713PhefsTer16)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.76345845_76345865delinsCTTTCTGAGGGTGTCTCTTAA	CA2047353053	BBS10	c.2120_2140delinsTTAAGAGACACCCTCAGAAAG (p.Val707=)
12	g.76345846T>A	CA385808218	BBS10	c.2139A>T (p.Lys713Asn)
12	g.76345846T>C	CA481010451	BBS10	c.2139A>G (p.Lys713=)	ClinVar dbSNP
12	g.76345846T>G	CA385808219	BBS10	c.2139A>C (p.Lys713Asn)
12	g.76345846_76345865del	CA949387572	BBS10	c.2120_2139del (p.Val707GlyfsTer9)	dbSNP gnomAD v3 gnomAD v4
12	g.76345847T>A	CA385808222	BBS10	c.2138A>T (p.Lys713Ile)
12	g.76345847T>C	CA385808220	BBS10	c.2138A>G (p.Lys713Arg)	gnomAD v4
12	g.76345847T>G	CA385808221	BBS10	c.2138A>C (p.Lys713Thr)
12	g.76345848T>A	CA385808223	BBS10	c.2137A>T (p.Lys713Ter)	gnomAD v4
12	g.76345848T>C	CA385808224	BBS10	c.2137A>G (p.Lys713Glu)	dbSNP gnomAD v3 gnomAD v4
12	g.76345848T>G	CA385808225	BBS10	c.2137A>C (p.Lys713Gln)
12	g.76345848T=	CA2047353054	BBS10	c.2137A= (p.Lys713=)
12	g.76345849_76345850del	CA1139770137	BBS10	c.2136_2137del (p.Lys713SerfsTer9)	gnomAD v4
12	g.76345849C>A	CA385808226	BBS10	c.2136G>T (p.Gln712His)
12	g.76345849C>G	CA385808227	BBS10	c.2136G>C (p.Gln712His)
12	g.76345849C>T	CA481010461	BBS10	c.2136G>A (p.Gln712=)
12	g.76345850T>A	CA385808228	BBS10	c.2135A>T (p.Gln712Leu)
12	g.76345850T>C	CA385808229	BBS10	c.2135A>G (p.Gln712Arg)
12	g.76345850T>G	CA385808230	BBS10	c.2135A>C (p.Gln712Pro)
12	g.76345851G>A	CA385808231	BBS10	c.2134C>T (p.Gln712Ter)
12	g.76345851G>C	CA385808232	BBS10	c.2134C>G (p.Gln712Glu)
12	g.76345851G>T	CA385808233	BBS10	c.2134C>A (p.Gln712Lys)
12	g.76345852A>C	CA481010465	BBS10	c.2133T>G (p.Pro711=)
12	g.76345852A>G	CA481010467	BBS10	c.2133T>C (p.Pro711=)
12	g.76345852A>T	CA481010469	BBS10	c.2133T>A (p.Pro711=)
12	g.76345853G>A	CA6694046	BBS10	c.2132C>T (p.Pro711Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345853G>C	CA385808235	BBS10	c.2132C>G (p.Pro711Arg)
12	g.76345853G=	CA2047353055	BBS10	c.2132C= (p.Pro711=)
12	g.76345853G>T	CA385808234	BBS10	c.2132C>A (p.Pro711His)
12	g.76345854G>A	CA385808236	BBS10	c.2131C>T (p.Pro711Ser)	gnomAD v4
12	g.76345854G>C	CA385808237	BBS10	c.2131C>G (p.Pro711Ala)
12	g.76345854G>T	CA385808238	BBS10	c.2131C>A (p.Pro711Thr)
12	g.76345855G>A	CA481010477	BBS10	c.2130C>T (p.His710=)	ClinVar
12	g.76345855G>C	CA385808239	BBS10	c.2130C>G (p.His710Gln)
12	g.76345855G>T	CA385808240	BBS10	c.2130C>A (p.His710Gln)
12	g.76345856T>A	CA385808243	BBS10	c.2129A>T (p.His710Leu)
12	g.76345856T>C	CA385808242	BBS10	c.2129A>G (p.His710Arg)
12	g.76345856T>G	CA385808241	BBS10	c.2129A>C (p.His710Pro)
12	g.76345857G>A	CA385808244	BBS10	c.2128C>T (p.His710Tyr)
12	g.76345857G>C	CA385808245	BBS10	c.2128C>G (p.His710Asp)
12	g.76345857G>T	CA385808246	BBS10	c.2128C>A (p.His710Asn)	gnomAD v4
12	g.76345857_76345859delinsGTC	CA2047353056	BBS10	c.2126_2128delinsGAC (p.Arg709=)
12	g.76345858T>A	CA385808247	BBS10	c.2127A>T (p.Arg709Ser)
12	g.76345858T>C	CA481010483	BBS10	c.2127A>G (p.Arg709=)
12	g.76345858T>G	CA385808248	BBS10	c.2127A>C (p.Arg709Ser)
12	g.76345858_76345859delinsTC	CA2047353057	BBS10	c.2126_2127delinsGA (p.Arg709=)
12	g.76345858_76345862delinsTCTCT	CA2047353058	BBS10	c.2123_2127delinsAGAGA (p.Lys708=)
12	g.76345861_76345862del	CA6694047	BBS10	c.2126_2127del (p.Arg709ThrfsTer13)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76345859del	CA606185887	BBS10	c.2126del (p.Arg709AsnfsTer21)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345859C>A	CA385808249	BBS10	c.2126G>T (p.Arg709Ile)
12	g.76345859C=	CA2047353059	BBS10	c.2126G= (p.Arg709=)
12	g.76345859C>G	CA385808251	BBS10	c.2126G>C (p.Arg709Thr)	dbSNP
12	g.76345859C>T	CA385808250	BBS10	c.2126G>A (p.Arg709Lys)
12	g.76345859_76345862delinsTCC	CA658797934	BBS10	c.2123_2126delinsGGA (p.Lys708ArgfsTer22)	ClinVar dbSNP
12	g.76345860T>A	CA385808252	BBS10	c.2125A>T (p.Arg709Ter)
12	g.76345860T>C	CA385808253	BBS10	c.2125A>G (p.Arg709Gly)
12	g.76345860T>G	CA481010494	BBS10	c.2125A>C (p.Arg709=)
12	g.76345861C>A	CA385808254	BBS10	c.2124G>T (p.Lys708Asn)
12	g.76345861C>G	CA385808255	BBS10	c.2124G>C (p.Lys708Asn)
12	g.76345861C>T	CA481010498	BBS10	c.2124G>A (p.Lys708=)
12	g.76345861_76345863delinsCTT	CA2047353060	BBS10	c.2122_2124delinsAAG (p.Lys708=)
12	g.76345862T>A	CA385808256	BBS10	c.2123A>T (p.Lys708Met)
12	g.76345862T>C	CA385808257	BBS10	c.2123A>G (p.Lys708Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345862T>G	CA385808258	BBS10	c.2123A>C (p.Lys708Thr)
12	g.76345862T=	CA2047353062	BBS10	c.2123A= (p.Lys708=)
12	g.76345862_76345863del	CA2047353061	BBS10	c.2122_2123del (p.Lys708GlufsTer14)	ClinVar dbSNP gnomAD v4
12	g.76345863T>A	CA385808259	BBS10	c.2122A>T (p.Lys708Ter)
12	g.76345863T>C	CA385808260	BBS10	c.2122A>G (p.Lys708Glu)
12	g.76345863T>G	CA385808261	BBS10	c.2122A>C (p.Lys708Gln)
12	g.76345864A>C	CA481010506	BBS10	c.2121T>G (p.Val707=)
12	g.76345864A>G	CA481010507	BBS10	c.2121T>C (p.Val707=)
12	g.76345864A>T	CA481010508	BBS10	c.2121T>A (p.Val707=)
12	g.76345864_76345866delinsAAC	CA2047353063	BBS10	c.2119_2121delinsGTT (p.Val707=)
12	g.76345865A>C	CA385808263	BBS10	c.2120T>G (p.Val707Gly)
12	g.76345865A>G	CA385808264	BBS10	c.2120T>C (p.Val707Ala)
12	g.76345865A>T	CA385808262	BBS10	c.2120T>A (p.Val707Asp)
12	g.76345866_76345867dup	CA2047353064	BBS10	c.2119_2120dup (p.Lys708LeufsTer23)	dbSNP
12	g.76345866_76345867del	CA6694048	BBS10	c.2119_2120del (p.Val707Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345866C>A	CA385808267	BBS10	c.2119G>T (p.Val707Phe)
12	g.76345866C>G	CA385808265	BBS10	c.2119G>C (p.Val707Leu)
12	g.76345866C>T	CA385808266	BBS10	c.2119G>A (p.Val707Ile)
12	g.76345867A=	CA2047353065	BBS10	c.2118T= (p.Thr706=)
12	g.76345867A>C	CA481010515	BBS10	c.2118T>G (p.Thr706=)
12	g.76345867A>G	CA481010516	BBS10	c.2118T>C (p.Thr706=)
12	g.76345867A>T	CA481010517	BBS10	c.2118T>A (p.Thr706=)
12	g.76345867_76345868insT	CA949387593	BBS10	c.2117_2118insA (p.Val707CysfsTer2)	dbSNP gnomAD v3 gnomAD v4
12	g.76345868G>A	CA385808268	BBS10	c.2117C>T (p.Thr706Ile)
12	g.76345868G>C	CA385808269	BBS10	c.2117C>G (p.Thr706Ser)
12	g.76345868G>T	CA385808270	BBS10	c.2117C>A (p.Thr706Asn)
12	g.76345869T>A	CA385808271	BBS10	c.2116A>T (p.Thr706Ser)
12	g.76345869T>C	CA385808272	BBS10	c.2116A>G (p.Thr706Ala)
12	g.76345869T>G	CA385808273	BBS10	c.2116A>C (p.Thr706Pro)
12	g.76345870G>A	CA481010521	BBS10	c.2115C>T (p.Ile705=)
12	g.76345870G>C	CA385808274	BBS10	c.2115C>G (p.Ile705Met)
12	g.76345870G>T	CA481010519	BBS10	c.2115C>A (p.Ile705=)
12	g.76345871A=	CA2047353066	BBS10	c.2114T= (p.Ile705=)
12	g.76345871A>C	CA385808275	BBS10	c.2114T>G (p.Ile705Ser)
12	g.76345871A>G	CA239331423	BBS10	c.2114T>C (p.Ile705Thr)	dbSNP
12	g.76345871A>T	CA385808276	BBS10	c.2114T>A (p.Ile705Asn)
12	g.76345872T>A	CA385808279	BBS10	c.2113A>T (p.Ile705Phe)
12	g.76345872T>C	CA385808277	BBS10	c.2113A>G (p.Ile705Val)
12	g.76345872T>G	CA385808278	BBS10	c.2113A>C (p.Ile705Leu)
12	g.76345873T>A	CA481010529	BBS10	c.2112A>T (p.Val704=)
12	g.76345873T>C	CA481010530	BBS10	c.2112A>G (p.Val704=)
12	g.76345873T>G	CA481010531	BBS10	c.2112A>C (p.Val704=)	gnomAD v4
12	g.76345874A>C	CA385808280	BBS10	c.2111T>G (p.Val704Gly)
12	g.76345874A>G	CA385808281	BBS10	c.2111T>C (p.Val704Ala)
12	g.76345874A>T	CA385808282	BBS10	c.2111T>A (p.Val704Glu)
12	g.76345875C>A	CA385808283	BBS10	c.2110G>T (p.Val704Leu)
12	g.76345875C>G	CA385808284	BBS10	c.2110G>C (p.Val704Leu)
12	g.76345875C>T	CA385808285	BBS10	c.2110G>A (p.Val704Ile)
12	g.76345876C>A	CA385808286	BBS10	c.2109G>T (p.Met703Ile)
12	g.76345876C>G	CA385808287	BBS10	c.2109G>C (p.Met703Ile)
12	g.76345876C>T	CA385808288	BBS10	c.2109G>A (p.Met703Ile)
12	g.76345877A>C	CA385808289	BBS10	c.2108T>G (p.Met703Arg)
12	g.76345877A>G	CA385808290	BBS10	c.2108T>C (p.Met703Thr)
12	g.76345877A>T	CA385808291	BBS10	c.2108T>A (p.Met703Lys)
12	g.76345878T>A	CA385808293	BBS10	c.2107A>T (p.Met703Leu)
12	g.76345878T>C	CA385808294	BBS10	c.2107A>G (p.Met703Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76345878T>G	CA385808292	BBS10	c.2107A>C (p.Met703Leu)
12	g.76345878T=	CA2047353067	BBS10	c.2107A= (p.Met703=)
12	g.76345879G>A	CA481010539	BBS10	c.2106C>T (p.Asp702=)	ClinVar dbSNP gnomAD v4
12	g.76345879G>C	CA385808295	BBS10	c.2106C>G (p.Asp702Glu)
12	g.76345879G=	CA2047353068	BBS10	c.2106C= (p.Asp702=)
12	g.76345879G>T	CA385808296	BBS10	c.2106C>A (p.Asp702Glu)
12	g.76345880T>A	CA385808297	BBS10	c.2105A>T (p.Asp702Val)
12	g.76345880T>C	CA385808298	BBS10	c.2105A>G (p.Asp702Gly)
12	g.76345880T>G	CA385808299	BBS10	c.2105A>C (p.Asp702Ala)
12	g.76345881C>A	CA385808300	BBS10	c.2104G>T (p.Asp702Tyr)
12	g.76345881C>G	CA385808301	BBS10	c.2104G>C (p.Asp702His)
12	g.76345881C>T	CA385808302	BBS10	c.2104G>A (p.Asp702Asn)	gnomAD v4
12	g.76345882A>C	CA385808303	BBS10	c.2103T>G (p.Ile701Met)
12	g.76345882A>G	CA481010554	BBS10	c.2103T>C (p.Ile701=)	ClinVar dbSNP
12	g.76345882A>T	CA481010555	BBS10	c.2103T>A (p.Ile701=)
12	g.76345883A>C	CA385808304	BBS10	c.2102T>G (p.Ile701Ser)
12	g.76345883A>G	CA385808305	BBS10	c.2102T>C (p.Ile701Thr)	gnomAD v4
12	g.76345883A>T	CA385808306	BBS10	c.2102T>A (p.Ile701Asn)
12	g.76345884T>A	CA385808308	BBS10	c.2101A>T (p.Ile701Phe)
12	g.76345884T>C	CA385808309	BBS10	c.2101A>G (p.Ile701Val)
12	g.76345884T>G	CA385808307	BBS10	c.2101A>C (p.Ile701Leu)
12	g.76345885G>A	CA6694049	BBS10	c.2100C>T (p.Thr700=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76345885G>C	CA481010570	BBS10	c.2100C>G (p.Thr700=)
12	g.76345885G=	CA2047353069	BBS10	c.2100C= (p.Thr700=)
12	g.76345885G>T	CA481010568	BBS10	c.2100C>A (p.Thr700=)
12	g.76345886G>A	CA385808310	BBS10	c.2099C>T (p.Thr700Ile)	COSMIC
12	g.76345886G>C	CA385808311	BBS10	c.2099C>G (p.Thr700Ser)
12	g.76345886G>T	CA385808312	BBS10	c.2099C>A (p.Thr700Asn)	gnomAD v4
12	g.76345887T>A	CA385808313	BBS10	c.2098A>T (p.Thr700Ser)
12	g.76345887T>C	CA385808314	BBS10	c.2098A>G (p.Thr700Ala)	gnomAD v4
12	g.76345887T>G	CA385808315	BBS10	c.2098A>C (p.Thr700Pro)
12	g.76345888T>A	CA385808316	BBS10	c.2097A>T (p.Leu699Phe)
12	g.76345888T>C	CA481010579	BBS10	c.2097A>G (p.Leu699=)
12	g.76345888T>G	CA385808317	BBS10	c.2097A>C (p.Leu699Phe)
12	g.76345889A>C	CA385808318	BBS10	c.2096T>G (p.Leu699Ter)
12	g.76345889A>G	CA385808319	BBS10	c.2096T>C (p.Leu699Ser)
12	g.76345889A>T	CA385808320	BBS10	c.2096T>A (p.Leu699Ter)
12	g.76345890A=	CA2047353070	BBS10	c.2095T= (p.Leu699=)
12	g.76345890A>C	CA385808321	BBS10	c.2095T>G (p.Leu699Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76345890A>G	CA481010591	BBS10	c.2095T>C (p.Leu699=)	ClinVar gnomAD v4
12	g.76345890A>T	CA385808322	BBS10	c.2095T>A (p.Leu699Ile)
12	g.76345891T>A	CA481010594	BBS10	c.2094A>T (p.Ile698=)
12	g.76345891T>C	CA6694050	BBS10	c.2094A>G (p.Ile698Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345891T>G	CA481010596	BBS10	c.2094A>C (p.Ile698=)
12	g.76345891T=	CA2047353071	BBS10	c.2094A= (p.Ile698=)
12	g.76345892A=	CA2047353072	BBS10	c.2093T= (p.Ile698=)
12	g.76345892A>C	CA385808325	BBS10	c.2093T>G (p.Ile698Arg)
12	g.76345892A>G	CA385808324	BBS10	c.2093T>C (p.Ile698Thr)
12	g.76345892A>T	CA385808323	BBS10	c.2093T>A (p.Ile698Lys)
12	g.76345893T>A	CA385808327	BBS10	c.2092A>T (p.Ile698Leu)
12	g.76345893T>C	CA385808326	BBS10	c.2092A>G (p.Ile698Val)
12	g.76345893T>G	CA385808328	BBS10	c.2092A>C (p.Ile698Leu)
12	g.76345897dup	CA2047353073	BBS10	c.2092dup (p.Ile698AsnfsTer5)	dbSNP
12	g.76345894T>A	CA385808329	BBS10	c.2091A>T (p.Lys697Asn)	dbSNP
12	g.76345894T>C	CA481010607	BBS10	c.2091A>G (p.Lys697=)
12	g.76345894T>G	CA385808330	BBS10	c.2091A>C (p.Lys697Asn)	ClinVar dbSNP gnomAD v4
12	g.76345894T=	CA2047353074	BBS10	c.2091A= (p.Lys697=)
12	g.76345895T>A	CA385808331	BBS10	c.2090A>T (p.Lys697Ile)
12	g.76345895T>C	CA385808332	BBS10	c.2090A>G (p.Lys697Arg)
12	g.76345895T>G	CA385808333	BBS10	c.2090A>C (p.Lys697Thr)
12	g.76345896T>A	CA385808334	BBS10	c.2089A>T (p.Lys697Ter)
12	g.76345896T>C	CA385808335	BBS10	c.2089A>G (p.Lys697Glu)
12	g.76345896T>G	CA385808336	BBS10	c.2089A>C (p.Lys697Gln)
12	g.76345897T>A	CA481010617	BBS10	c.2088A>T (p.Thr696=)
12	g.76345897T>C	CA481010619	BBS10	c.2088A>G (p.Thr696=)
12	g.76345897T>G	CA481010620	BBS10	c.2088A>C (p.Thr696=)
12	g.76345898G>A	CA385808337	BBS10	c.2087C>T (p.Thr696Ile)
12	g.76345898G>C	CA385808339	BBS10	c.2087C>G (p.Thr696Arg)	dbSNP gnomAD v3 gnomAD v4
12	g.76345898G=	CA2047353075	BBS10	c.2087C= (p.Thr696=)
12	g.76345898G>T	CA385808338	BBS10	c.2087C>A (p.Thr696Lys)	COSMIC
12	g.76345899T>A	CA385808340	BBS10	c.2086A>T (p.Thr696Ser)
12	g.76345899T>C	CA385808341	BBS10	c.2086A>G (p.Thr696Ala)
12	g.76345899T>G	CA385808342	BBS10	c.2086A>C (p.Thr696Pro)
12	g.76345900C>A	CA385808343	BBS10	c.2085G>T (p.Leu695Phe)
12	g.76345900C>G	CA385808344	BBS10	c.2085G>C (p.Leu695Phe)
12	g.76345900C>T	CA481010640	BBS10	c.2085G>A (p.Leu695=)	ClinVar dbSNP
12	g.76345901A>C	CA385808345	BBS10	c.2084T>G (p.Leu695Trp)
12	g.76345901A>G	CA385808347	BBS10	c.2084T>C (p.Leu695Ser)
12	g.76345901A>T	CA385808346	BBS10	c.2084T>A (p.Leu695Ter)
12	g.76345902A>C	CA385808348	BBS10	c.2083T>G (p.Leu695Val)
12	g.76345902A>G	CA481010649	BBS10	c.2083T>C (p.Leu695=)
12	g.76345902A>T	CA385808349	BBS10	c.2083T>A (p.Leu695Met)
12	g.76345903A>C	CA385808350	BBS10	c.2082T>G (p.Cys694Trp)
12	g.76345903A>G	CA481010656	BBS10	c.2082T>C (p.Cys694=)
12	g.76345903A>T	CA385808351	BBS10	c.2082T>A (p.Cys694Ter)
12	g.76345904C>A	CA385808352	BBS10	c.2081G>T (p.Cys694Phe)
12	g.76345904C=	CA2047353076	BBS10	c.2081G= (p.Cys694=)
12	g.76345904C>G	CA385808353	BBS10	c.2081G>C (p.Cys694Ser)
12	g.76345904C>T	CA6694051	BBS10	c.2081G>A (p.Cys694Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76345905A=	CA2047353077	BBS10	c.2080T= (p.Cys694=)
12	g.76345905A>C	CA385808354	BBS10	c.2080T>G (p.Cys694Gly)	gnomAD v4
12	g.76345905A>G	CA385808355	BBS10	c.2080T>C (p.Cys694Arg)	ClinVar dbSNP
12	g.76345905A>T	CA385808356	BBS10	c.2080T>A (p.Cys694Ser)
12	g.76345906C>A	CA385808357	BBS10	c.2079G>T (p.Gln693His)	COSMIC
12	g.76345906C>G	CA385808358	BBS10	c.2079G>C (p.Gln693His)
12	g.76345906C>T	CA481010675	BBS10	c.2079G>A (p.Gln693=)
12	g.76345907T>A	CA385808359	BBS10	c.2078A>T (p.Gln693Leu)
12	g.76345907T>C	CA385808361	BBS10	c.2078A>G (p.Gln693Arg)
12	g.76345907T>G	CA385808360	BBS10	c.2078A>C (p.Gln693Pro)
12	g.76345908G>A	CA385808362	BBS10	c.2077C>T (p.Gln693Ter)	ClinVar dbSNP
12	g.76345908G>C	CA385808363	BBS10	c.2077C>G (p.Gln693Glu)
12	g.76345908G=	CA2047353078	BBS10	c.2077C= (p.Gln693=)
12	g.76345908G>T	CA385808364	BBS10	c.2077C>A (p.Gln693Lys)
12	g.76345909A>C	CA481010688	BBS10	c.2076T>G (p.Leu692=)
12	g.76345909A>G	CA481010690	BBS10	c.2076T>C (p.Leu692=)
12	g.76345909A>T	CA481010691	BBS10	c.2076T>A (p.Leu692=)
12	g.76345910A>C	CA385808365	BBS10	c.2075T>G (p.Leu692Arg)
12	g.76345910A>G	CA385808366	BBS10	c.2075T>C (p.Leu692Pro)
12	g.76345910A>T	CA385808367	BBS10	c.2075T>A (p.Leu692His)
12	g.76345911G>A	CA385808368	BBS10	c.2074C>T (p.Leu692Phe)	gnomAD v4
12	g.76345911G>C	CA385808369	BBS10	c.2074C>G (p.Leu692Val)
12	g.76345911G>T	CA385808370	BBS10	c.2074C>A (p.Leu692Ile)
12	g.76345912A>C	CA481010695	BBS10	c.2073T>G (p.Val691=)
12	g.76345912A>G	CA481010696	BBS10	c.2073T>C (p.Val691=)
12	g.76345912A>T	CA481010697	BBS10	c.2073T>A (p.Val691=)
12	g.76345913A>C	CA385808371	BBS10	c.2072T>G (p.Val691Gly)
12	g.76345913A>G	CA385808372	BBS10	c.2072T>C (p.Val691Ala)
12	g.76345913A>T	CA385808373	BBS10	c.2072T>A (p.Val691Asp)

Number of alleles fetched