Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
12	g.76345914C>A	CA385808375	BBS10	c.2071G>T (p.Val691Phe)
12	g.76345914C>G	CA385808376	BBS10	c.2071G>C (p.Val691Leu)
12	g.76345914C>T	CA385808374	BBS10	c.2071G>A (p.Val691Ile)
12	g.76345915T>A	CA481010705	BBS10	c.2070A>T (p.Ser690=)	ClinVar
12	g.76345915T>C	CA239331434	BBS10	c.2070A>G (p.Ser690=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345915T>G	CA481010707	BBS10	c.2070A>C (p.Ser690=)
12	g.76345915T=	CA2047353079	BBS10	c.2070A= (p.Ser690=)
12	g.76345916G>A	CA385808377	BBS10	c.2069C>T (p.Ser690Leu)	gnomAD v4
12	g.76345916G>C	CA385808378	BBS10	c.2069C>G (p.Ser690Ter)
12	g.76345916G=	CA2047353080	BBS10	c.2069C= (p.Ser690=)
12	g.76345916G>T	CA385808379	BBS10	c.2069C>A (p.Ser690Ter)	dbSNP
12	g.76345917A=	CA2047353081	BBS10	c.2068T= (p.Ser690=)
12	g.76345917A>C	CA385808382	BBS10	c.2068T>G (p.Ser690Ala)	dbSNP gnomAD v2 gnomAD v4
12	g.76345917A>G	CA385808381	BBS10	c.2068T>C (p.Ser690Pro)
12	g.76345917A>T	CA385808380	BBS10	c.2068T>A (p.Ser690Thr)	dbSNP
12	g.76345918A=	CA2047353082	BBS10	c.2067T= (p.Thr689=)
12	g.76345918A>C	CA481010715	BBS10	c.2067T>G (p.Thr689=)
12	g.76345918A>G	CA481010717	BBS10	c.2067T>C (p.Thr689=)
12	g.76345918A>T	CA239331437	BBS10	c.2067T>A (p.Thr689=)	dbSNP
12	g.76345919G>A	CA385808383	BBS10	c.2066C>T (p.Thr689Ile)
12	g.76345919G>C	CA385808384	BBS10	c.2066C>G (p.Thr689Ser)
12	g.76345919G>T	CA385808385	BBS10	c.2066C>A (p.Thr689Asn)
12	g.76345920T>A	CA385808386	BBS10	c.2065A>T (p.Thr689Ser)
12	g.76345920T>C	CA385808387	BBS10	c.2065A>G (p.Thr689Ala)
12	g.76345920T>G	CA6694052	BBS10	c.2065A>C (p.Thr689Pro)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76345920T=	CA2047353083	BBS10	c.2065A= (p.Thr689=)
12	g.76345921T>A	CA481010726	BBS10	c.2064A>T (p.Leu688=)
12	g.76345921T>C	CA481010728	BBS10	c.2064A>G (p.Leu688=)	dbSNP gnomAD v3 gnomAD v4
12	g.76345921T>G	CA481010729	BBS10	c.2064A>C (p.Leu688=)
12	g.76345921T=	CA2047353084	BBS10	c.2064A= (p.Leu688=)
12	g.76345922A>C	CA385808388	BBS10	c.2063T>G (p.Leu688Arg)
12	g.76345922A>G	CA385808390	BBS10	c.2063T>C (p.Leu688Pro)
12	g.76345922A>T	CA385808389	BBS10	c.2063T>A (p.Leu688Gln)
12	g.76345923G>A	CA481010735	BBS10	c.2062C>T (p.Leu688=)	ClinVar gnomAD v4
12	g.76345923G>C	CA385808391	BBS10	c.2062C>G (p.Leu688Val)
12	g.76345923G=	CA2047353085	BBS10	c.2062C= (p.Leu688=)
12	g.76345923G>T	CA6694053	BBS10	c.2062C>A (p.Leu688Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76345924T>A	CA481010736	BBS10	c.2061A>T (p.Leu687=)
12	g.76345924T>C	CA481010737	BBS10	c.2061A>G (p.Leu687=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345924T>G	CA481010738	BBS10	c.2061A>C (p.Leu687=)
12	g.76345924T=	CA2047353086	BBS10	c.2061A= (p.Leu687=)
12	g.76345925A>C	CA385808392	BBS10	c.2060T>G (p.Leu687Arg)
12	g.76345925A>G	CA385808393	BBS10	c.2060T>C (p.Leu687Pro)
12	g.76345925A>T	CA385808394	BBS10	c.2060T>A (p.Leu687Gln)
12	g.76345926G>A	CA239331446	BBS10	c.2059C>T (p.Leu687=)	ClinVar dbSNP gnomAD v4
12	g.76345926G>C	CA385808395	BBS10	c.2059C>G (p.Leu687Val)
12	g.76345926G=	CA2047353087	BBS10	c.2059C= (p.Leu687=)
12	g.76345926G>T	CA385808396	BBS10	c.2059C>A (p.Leu687Ile)
12	g.76345927C>A	CA385808399	BBS10	c.2058G>T (p.Gln686His)
12	g.76345927C>G	CA385808398	BBS10	c.2058G>C (p.Gln686His)
12	g.76345927C>T	CA481010752	BBS10	c.2058G>A (p.Gln686=)
12	g.76345928T>A	CA385808400	BBS10	c.2057A>T (p.Gln686Leu)
12	g.76345928T>C	CA385808401	BBS10	c.2057A>G (p.Gln686Arg)	ClinVar
12	g.76345928T>G	CA385808402	BBS10	c.2057A>C (p.Gln686Pro)
12	g.76345929G>A	CA385808403	BBS10	c.2056C>T (p.Gln686Ter)
12	g.76345929G>C	CA385808404	BBS10	c.2056C>G (p.Gln686Glu)
12	g.76345929G>T	CA385808405	BBS10	c.2056C>A (p.Gln686Lys)
12	g.76345930G>A	CA6694054	BBS10	c.2055C>T (p.Tyr685=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76345930G>C	CA385808407	BBS10	c.2055C>G (p.Tyr685Ter)
12	g.76345930G=	CA2047353088	BBS10	c.2055C= (p.Tyr685=)
12	g.76345930G>T	CA385808406	BBS10	c.2055C>A (p.Tyr685Ter)	dbSNP gnomAD v2 gnomAD v4
12	g.76345931T>A	CA385808408	BBS10	c.2054A>T (p.Tyr685Phe)
12	g.76345931T>C	CA385808409	BBS10	c.2054A>G (p.Tyr685Cys)	gnomAD v4
12	g.76345931T>G	CA385808410	BBS10	c.2054A>C (p.Tyr685Ser)
12	g.76345932A>C	CA385808411	BBS10	c.2053T>G (p.Tyr685Asp)
12	g.76345932A>G	CA385808412	BBS10	c.2053T>C (p.Tyr685His)
12	g.76345932A>T	CA385808413	BBS10	c.2053T>A (p.Tyr685Asn)
12	g.76345932_76345933delinsAT	CA2047353089	BBS10	c.2052_2053delinsAT (p.Lys684=)
12	g.76345933T>A	CA385808414	BBS10	c.2052A>T (p.Lys684Asn)
12	g.76345933T>C	CA481010769	BBS10	c.2052A>G (p.Lys684=)
12	g.76345933T>G	CA385808415	BBS10	c.2052A>C (p.Lys684Asn)
12	g.76345935del	CA1139662786	BBS10	c.2052del (p.Lys684AsnfsTer5)	ClinVar dbSNP gnomAD v4
12	g.76345934T>A	CA385808416	BBS10	c.2051A>T (p.Lys684Ile)
12	g.76345934T>C	CA385808417	BBS10	c.2051A>G (p.Lys684Arg)
12	g.76345934T>G	CA385808418	BBS10	c.2051A>C (p.Lys684Thr)	gnomAD v4
12	g.76345935T>A	CA385808419	BBS10	c.2050A>T (p.Lys684Ter)
12	g.76345935T>C	CA385808421	BBS10	c.2050A>G (p.Lys684Glu)
12	g.76345935T>G	CA385808420	BBS10	c.2050A>C (p.Lys684Gln)
12	g.76345936A>C	CA481010780	BBS10	c.2049T>G (p.Gly683=)
12	g.76345936A>G	CA481010782	BBS10	c.2049T>C (p.Gly683=)
12	g.76345936A>T	CA481010783	BBS10	c.2049T>A (p.Gly683=)	ClinVar
12	g.76345937C>A	CA385808422	BBS10	c.2048G>T (p.Gly683Val)
12	g.76345937C=	CA2047353090	BBS10	c.2048G= (p.Gly683=)
12	g.76345937C>G	CA385808423	BBS10	c.2048G>C (p.Gly683Ala)
12	g.76345937C>T	CA6694055	BBS10	c.2048G>A (p.Gly683Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76345938C>A	CA385808424	BBS10	c.2047G>T (p.Gly683Cys)	gnomAD v4
12	g.76345938C>G	CA385808425	BBS10	c.2047G>C (p.Gly683Arg)
12	g.76345938C>T	CA385808426	BBS10	c.2047G>A (p.Gly683Ser)
12	g.76345939C>A	CA385808427	BBS10	c.2046G>T (p.Met682Ile)	gnomAD v4
12	g.76345939C>G	CA385808428	BBS10	c.2046G>C (p.Met682Ile)
12	g.76345939C>T	CA385808429	BBS10	c.2046G>A (p.Met682Ile)	gnomAD v4
12	g.76345940A>C	CA385808430	BBS10	c.2045T>G (p.Met682Arg)
12	g.76345940A>G	CA385808431	BBS10	c.2045T>C (p.Met682Thr)
12	g.76345940A>T	CA385808432	BBS10	c.2045T>A (p.Met682Lys)
12	g.76345941T>A	CA385808435	BBS10	c.2044A>T (p.Met682Leu)
12	g.76345941T>C	CA385808433	BBS10	c.2044A>G (p.Met682Val)	gnomAD v4
12	g.76345941T>G	CA385808434	BBS10	c.2044A>C (p.Met682Leu)	gnomAD v4
12	g.76345942dup	CA2573148985	BBS10	c.2044dup (p.Met682AsnfsTer3)	ClinVar dbSNP
12	g.76345942T>A	CA481010799	BBS10	c.2043A>T (p.Val681=)
12	g.76345942T>C	CA481010800	BBS10	c.2043A>G (p.Val681=)
12	g.76345942T>G	CA481010802	BBS10	c.2043A>C (p.Val681=)
12	g.76345943A>C	CA385808436	BBS10	c.2042T>G (p.Val681Gly)
12	g.76345943A>G	CA385808437	BBS10	c.2042T>C (p.Val681Ala)
12	g.76345943A>T	CA385808438	BBS10	c.2042T>A (p.Val681Glu)
12	g.76345944C>A	CA385808439	BBS10	c.2041G>T (p.Val681Leu)
12	g.76345944C>G	CA385808440	BBS10	c.2041G>C (p.Val681Leu)
12	g.76345944C>T	CA385808441	BBS10	c.2041G>A (p.Val681Ile)	gnomAD v4
12	g.76345945T>A	CA481010809	BBS10	c.2040A>T (p.Ser680=)
12	g.76345945T>C	CA481010811	BBS10	c.2040A>G (p.Ser680=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76345945T>G	CA481010815	BBS10	c.2040A>C (p.Ser680=)
12	g.76345945T=	CA2047353091	BBS10	c.2040A= (p.Ser680=)
12	g.76345946G>A	CA385808442	BBS10	c.2039C>T (p.Ser680Leu)	ClinVar
12	g.76345946G>C	CA385808443	BBS10	c.2039C>G (p.Ser680Ter)
12	g.76345946G>T	CA385808444	BBS10	c.2039C>A (p.Ser680Ter)
12	g.76345947A>C	CA385808445	BBS10	c.2038T>G (p.Ser680Ala)
12	g.76345947A>G	CA385808446	BBS10	c.2038T>C (p.Ser680Pro)
12	g.76345947A>T	CA385808447	BBS10	c.2038T>A (p.Ser680Thr)
12	g.76345948T>A	CA385808448	BBS10	c.2037A>T (p.Glu679Asp)
12	g.76345948T>C	CA481010827	BBS10	c.2037A>G (p.Glu679=)
12	g.76345948T>G	CA385808449	BBS10	c.2037A>C (p.Glu679Asp)
12	g.76345949T>A	CA385808450	BBS10	c.2036A>T (p.Glu679Val)
12	g.76345949T>C	CA385808452	BBS10	c.2036A>G (p.Glu679Gly)
12	g.76345949T>G	CA385808451	BBS10	c.2036A>C (p.Glu679Ala)
12	g.76345950C>A	CA385808453	BBS10	c.2035G>T (p.Glu679Ter)
12	g.76345950C>G	CA385808455	BBS10	c.2035G>C (p.Glu679Gln)
12	g.76345950C>T	CA385808454	BBS10	c.2035G>A (p.Glu679Lys)
12	g.76345951C>A	CA385808456	BBS10	c.2034G>T (p.Leu678Phe)
12	g.76345951C=	CA2047353092	BBS10	c.2034G= (p.Leu678=)
12	g.76345951C>G	CA385808457	BBS10	c.2034G>C (p.Leu678Phe)
12	g.76345951C>T	CA481010836	BBS10	c.2034G>A (p.Leu678=)	dbSNP
12	g.76345952A=	CA2047353093	BBS10	c.2033T= (p.Leu678=)
12	g.76345952A>C	CA239331456	BBS10	c.2033T>G (p.Leu678Trp)	dbSNP
12	g.76345952A>G	CA385808458	BBS10	c.2033T>C (p.Leu678Ser)
12	g.76345952A>T	CA385808459	BBS10	c.2033T>A (p.Leu678Ter)
12	g.76345953A>C	CA385808460	BBS10	c.2032T>G (p.Leu678Val)
12	g.76345953A>G	CA481010838	BBS10	c.2032T>C (p.Leu678=)	gnomAD v4
12	g.76345953A>T	CA385808461	BBS10	c.2032T>A (p.Leu678Met)	gnomAD v4
12	g.76345954A=	CA2047353095	BBS10	c.2031T= (p.Gly677=)
12	g.76345954A>C	CA6694056	BBS10	c.2031T>G (p.Gly677=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76345954A>G	CA481010840	BBS10	c.2031T>C (p.Gly677=)
12	g.76345954A>T	CA481010841	BBS10	c.2031T>A (p.Gly677=)
12	g.76345954_76345955delinsAC	CA2047353094	BBS10	c.2030_2031delinsGT (p.Gly677=)
12	g.76345955C>A	CA385808462	BBS10	c.2030G>T (p.Gly677Val)	ClinVar dbSNP
12	g.76345955C=	CA2047353096	BBS10	c.2030G= (p.Gly677=)
12	g.76345955C>G	CA385808463	BBS10	c.2030G>C (p.Gly677Ala)
12	g.76345955C>T	CA385808464	BBS10	c.2030G>A (p.Gly677Asp)
12	g.76345956del	CA16619588	BBS10	c.2030del (p.Gly677ValfsTer5)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345956C>A	CA385808467	BBS10	c.2029G>T (p.Gly677Cys)	gnomAD v4
12	g.76345956C>G	CA385808466	BBS10	c.2029G>C (p.Gly677Arg)
12	g.76345956C>T	CA385808465	BBS10	c.2029G>A (p.Gly677Ser)	gnomAD v4
12	g.76345959_76345962del	CA2831039013	BBS10	c.2026_2029del (p.Thr676ValfsTer5)
12	g.76345957T>A	CA481010851	BBS10	c.2028A>T (p.Thr676=)
12	g.76345957T>C	CA481010853	BBS10	c.2028A>G (p.Thr676=)
12	g.76345957T>G	CA481010855	BBS10	c.2028A>C (p.Thr676=)
12	g.76345958G>A	CA385808469	BBS10	c.2027C>T (p.Thr676Ile)
12	g.76345958G>C	CA385808471	BBS10	c.2027C>G (p.Thr676Arg)
12	g.76345958G>T	CA385808473	BBS10	c.2027C>A (p.Thr676Lys)
12	g.76345959T>A	CA385808475	BBS10	c.2026A>T (p.Thr676Ser)
12	g.76345959T>C	CA385808477	BBS10	c.2026A>G (p.Thr676Ala)
12	g.76345959T>G	CA385808479	BBS10	c.2026A>C (p.Thr676Pro)
12	g.76345959_76345963delinsTCTGA	CA2047353097	BBS10	c.2022_2026delinsTCAGA (p.Ser674=)
12	g.76345960C>A	CA385808480	BBS10	c.2025G>T (p.Gln675His)
12	g.76345960C>G	CA385808481	BBS10	c.2025G>C (p.Gln675His)
12	g.76345960C>T	CA481010859	BBS10	c.2025G>A (p.Gln675=)	gnomAD v4
12	g.76345963_76345966del	CA606185888	BBS10	c.2022_2025del (p.Ser674ArgfsTer7)	dbSNP gnomAD v2
12	g.76345961T>A	CA385808483	BBS10	c.2024A>T (p.Gln675Leu)
12	g.76345961T>C	CA385808485	BBS10	c.2024A>G (p.Gln675Arg)
12	g.76345961T>G	CA385808486	BBS10	c.2024A>C (p.Gln675Pro)
12	g.76345961dup	CA2695199107	BBS10	c.2024dup (p.Thr676AspfsTer9)	ClinVar
12	g.76345962G>A	CA385808491	BBS10	c.2023C>T (p.Gln675Ter)
12	g.76345962G>C	CA385808490	BBS10	c.2023C>G (p.Gln675Glu)
12	g.76345962G>T	CA385808489	BBS10	c.2023C>A (p.Gln675Lys)	gnomAD v4
12	g.76345963A>C	CA385808492	BBS10	c.2022T>G (p.Ser674Arg)
12	g.76345963A>G	CA481010867	BBS10	c.2022T>C (p.Ser674=)
12	g.76345963A>T	CA385808493	BBS10	c.2022T>A (p.Ser674Arg)
12	g.76345964C>A	CA385808494	BBS10	c.2021G>T (p.Ser674Ile)
12	g.76345964C=	CA2047353098	BBS10	c.2021G= (p.Ser674=)
12	g.76345964C>G	CA385808496	BBS10	c.2021G>C (p.Ser674Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.76345964C>T	CA385808497	BBS10	c.2021G>A (p.Ser674Asn)
12	g.76345965T>A	CA385808500	BBS10	c.2020A>T (p.Ser674Cys)
12	g.76345965T>C	CA385808502	BBS10	c.2020A>G (p.Ser674Gly)
12	g.76345965T>G	CA385808507	BBS10	c.2020A>C (p.Ser674Arg)
12	g.76345966G>A	CA481010873	BBS10	c.2019C>T (p.Ser673=)
12	g.76345966G>C	CA385808509	BBS10	c.2019C>G (p.Ser673Arg)
12	g.76345966G>T	CA385808510	BBS10	c.2019C>A (p.Ser673Arg)
12	g.76345967C>A	CA385808512	BBS10	c.2018G>T (p.Ser673Ile)
12	g.76345967C>G	CA385808514	BBS10	c.2018G>C (p.Ser673Thr)
12	g.76345967C>T	CA385808516	BBS10	c.2018G>A (p.Ser673Asn)
12	g.76345968T>A	CA385808518	BBS10	c.2017A>T (p.Ser673Cys)
12	g.76345968T>C	CA385808522	BBS10	c.2017A>G (p.Ser673Gly)
12	g.76345968T>G	CA385808520	BBS10	c.2017A>C (p.Ser673Arg)
12	g.76345969T>A	CA481010877	BBS10	c.2016A>T (p.Val672=)
12	g.76345969T>C	CA481010878	BBS10	c.2016A>G (p.Val672=)	gnomAD v4
12	g.76345969T>G	CA481010879	BBS10	c.2016A>C (p.Val672=)
12	g.76345970A>C	CA385808524	BBS10	c.2015T>G (p.Val672Gly)
12	g.76345970A>G	CA385808526	BBS10	c.2015T>C (p.Val672Ala)
12	g.76345970A>T	CA385808528	BBS10	c.2015T>A (p.Val672Glu)
12	g.76345971C>A	CA385808532	BBS10	c.2014G>T (p.Val672Leu)
12	g.76345971C=	CA2047353099	BBS10	c.2014G= (p.Val672=)
12	g.76345971C>G	CA385808533	BBS10	c.2014G>C (p.Val672Leu)
12	g.76345971C>T	CA385808535	BBS10	c.2014G>A (p.Val672Ile)	dbSNP gnomAD v2 gnomAD v4
12	g.76345972C>A	CA385808537	BBS10	c.2013G>T (p.Leu671Phe)
12	g.76345972C>G	CA385808539	BBS10	c.2013G>C (p.Leu671Phe)
12	g.76345972C>T	CA481010887	BBS10	c.2013G>A (p.Leu671=)
12	g.76345973A=	CA2047353100	BBS10	c.2012T= (p.Leu671=)
12	g.76345973A>C	CA385808542	BBS10	c.2012T>G (p.Leu671Trp)	gnomAD v4
12	g.76345973A>G	CA6694057	BBS10	c.2012T>C (p.Leu671Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76345973A>T	CA385808545	BBS10	c.2012T>A (p.Leu671Ter)
12	g.76345974A>C	CA385808548	BBS10	c.2011T>G (p.Leu671Val)
12	g.76345974A>G	CA481010900	BBS10	c.2011T>C (p.Leu671=)
12	g.76345974A>T	CA385808547	BBS10	c.2011T>A (p.Leu671Met)
12	g.76345975G>A	CA481010903	BBS10	c.2010C>T (p.Pro670=)	ClinVar
12	g.76345975G>C	CA481010905	BBS10	c.2010C>G (p.Pro670=)
12	g.76345975G>T	CA481010907	BBS10	c.2010C>A (p.Pro670=)
12	g.76345976G>A	CA385808550	BBS10	c.2009C>T (p.Pro670Leu)
12	g.76345976G>C	CA385808554	BBS10	c.2009C>G (p.Pro670Arg)
12	g.76345976G>T	CA385808552	BBS10	c.2009C>A (p.Pro670His)
12	g.76345977G>A	CA385808556	BBS10	c.2008C>T (p.Pro670Ser)	gnomAD v4
12	g.76345977G>C	CA385808558	BBS10	c.2008C>G (p.Pro670Ala)
12	g.76345977G>T	CA385808560	BBS10	c.2008C>A (p.Pro670Thr)
12	g.76345978T>A	CA385808562	BBS10	c.2007A>T (p.Gln669His)
12	g.76345978T>C	CA481010920	BBS10	c.2007A>G (p.Gln669=)	gnomAD v4 COSMIC
12	g.76345978T>G	CA385808563	BBS10	c.2007A>C (p.Gln669His)
12	g.76345979T>A	CA385808565	BBS10	c.2006A>T (p.Gln669Leu)
12	g.76345979T>C	CA385808566	BBS10	c.2006A>G (p.Gln669Arg)
12	g.76345979T>G	CA385808567	BBS10	c.2006A>C (p.Gln669Pro)
12	g.76345980G>A	CA385808568	BBS10	c.2005C>T (p.Gln669Ter)
12	g.76345980G>C	CA6694058	BBS10	c.2005C>G (p.Gln669Glu)	dbSNP ExAC gnomAD v2
12	g.76345980G=	CA2047353101	BBS10	c.2005C= (p.Gln669=)
12	g.76345980G>T	CA385808570	BBS10	c.2005C>A (p.Gln669Lys)	gnomAD v4

Number of alleles fetched