Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76345935del	CA1139662786	BBS10	c.2052del (p.Lys684AsnfsTer5)	ClinVar dbSNP 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.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
12	g.76345981A=	CA2047353102	BBS10	c.2004T= (p.Asn668=)
12	g.76345981A>C	CA6694059	BBS10	c.2004T>G (p.Asn668Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.76345981A>G	CA481010931	BBS10	c.2004T>C (p.Asn668=)	ClinVar
12	g.76345981A>T	CA385808574	BBS10	c.2004T>A (p.Asn668Lys)
12	g.76345982T>A	CA385808576	BBS10	c.2003A>T (p.Asn668Ile)	dbSNP gnomAD v4
12	g.76345982T>C	CA6694060	BBS10	c.2003A>G (p.Asn668Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345982T>G	CA385808575	BBS10	c.2003A>C (p.Asn668Thr)
12	g.76345982T=	CA2047353103	BBS10	c.2003A= (p.Asn668=)
12	g.76345983T>A	CA385808577	BBS10	c.2002A>T (p.Asn668Tyr)
12	g.76345983T>C	CA385808578	BBS10	c.2002A>G (p.Asn668Asp)	ClinVar
12	g.76345983T>G	CA385808579	BBS10	c.2002A>C (p.Asn668His)
12	g.76345984G>A	CA481010942	BBS10	c.2001C>T (p.Thr667=)
12	g.76345984G>C	CA481010939	BBS10	c.2001C>G (p.Thr667=)
12	g.76345984G>T	CA481010938	BBS10	c.2001C>A (p.Thr667=)
12	g.76345985G>A	CA385808580	BBS10	c.2000C>T (p.Thr667Ile)
12	g.76345985G>C	CA385808581	BBS10	c.2000C>G (p.Thr667Ser)
12	g.76345985G>T	CA385808582	BBS10	c.2000C>A (p.Thr667Asn)
12	g.76345986T>A	CA385808588	BBS10	c.1999A>T (p.Thr667Ser)
12	g.76345986T>C	CA385808590	BBS10	c.1999A>G (p.Thr667Ala)	gnomAD v4
12	g.76345986T>G	CA385808592	BBS10	c.1999A>C (p.Thr667Pro)
12	g.76345987T>A	CA385808594	BBS10	c.1998A>T (p.Gln666His)
12	g.76345987T>C	CA481010951	BBS10	c.1998A>G (p.Gln666=)
12	g.76345987T>G	CA385808595	BBS10	c.1998A>C (p.Gln666His)
12	g.76345988T>A	CA385808600	BBS10	c.1997A>T (p.Gln666Leu)
12	g.76345988T>C	CA385808599	BBS10	c.1997A>G (p.Gln666Arg)
12	g.76345988T>G	CA385808597	BBS10	c.1997A>C (p.Gln666Pro)
12	g.76345989G>A	CA385808604	BBS10	c.1996C>T (p.Gln666Ter)
12	g.76345989G>C	CA385808606	BBS10	c.1996C>G (p.Gln666Glu)
12	g.76345989G>T	CA385808607	BBS10	c.1996C>A (p.Gln666Lys)
12	g.76345990C>A	CA481010957	BBS10	c.1995G>T (p.Leu665=)
12	g.76345990C>G	CA481010961	BBS10	c.1995G>C (p.Leu665=)
12	g.76345990C>T	CA481010959	BBS10	c.1995G>A (p.Leu665=)
12	g.76345991A>C	CA385808608	BBS10	c.1994T>G (p.Leu665Arg)
12	g.76345991A>G	CA385808609	BBS10	c.1994T>C (p.Leu665Pro)
12	g.76345991A>T	CA385808611	BBS10	c.1994T>A (p.Leu665Gln)
12	g.76345992G>A	CA481010965	BBS10	c.1993C>T (p.Leu665=)
12	g.76345992G>C	CA385808613	BBS10	c.1993C>G (p.Leu665Val)
12	g.76345992G>T	CA385808614	BBS10	c.1993C>A (p.Leu665Met)
12	g.76345993T>A	CA481010969	BBS10	c.1992A>T (p.Ala664=)
12	g.76345993T>C	CA6694061	BBS10	c.1992A>G (p.Ala664=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76345993T>G	CA481010976	BBS10	c.1992A>C (p.Ala664=)
12	g.76345993T=	CA2047353104	BBS10	c.1992A= (p.Ala664=)
12	g.76345994G>A	CA385808617	BBS10	c.1991C>T (p.Ala664Val)	gnomAD v4 COSMIC
12	g.76345994G>C	CA385808619	BBS10	c.1991C>G (p.Ala664Gly)
12	g.76345994G>T	CA385808620	BBS10	c.1991C>A (p.Ala664Glu)	gnomAD v4
12	g.76345995C>A	CA385808623	BBS10	c.1990G>T (p.Ala664Ser)
12	g.76345995C>G	CA385808626	BBS10	c.1990G>C (p.Ala664Pro)
12	g.76345995C>T	CA385808622	BBS10	c.1990G>A (p.Ala664Thr)	gnomAD v4
12	g.76345996A>C	CA385808628	BBS10	c.1989T>G (p.His663Gln)
12	g.76345996A>G	CA481010981	BBS10	c.1989T>C (p.His663=)	ClinVar
12	g.76345996A>T	CA385808630	BBS10	c.1989T>A (p.His663Gln)
12	g.76345997T>A	CA385808632	BBS10	c.1988A>T (p.His663Leu)
12	g.76345997T>C	CA6694062	BBS10	c.1988A>G (p.His663Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76345997T>G	CA385808635	BBS10	c.1988A>C (p.His663Pro)
12	g.76345997T=	CA2047353105	BBS10	c.1988A= (p.His663=)
12	g.76345998G>A	CA385808640	BBS10	c.1987C>T (p.His663Tyr)	dbSNP gnomAD v2 gnomAD v4
12	g.76345998G>C	CA385808637	BBS10	c.1987C>G (p.His663Asp)
12	g.76345998G=	CA2047353106	BBS10	c.1987C= (p.His663=)
12	g.76345998G>T	CA385808639	BBS10	c.1987C>A (p.His663Asn)
12	g.76345999G>A	CA481010986	BBS10	c.1986C>T (p.Val662=)
12	g.76345999G>C	CA481010987	BBS10	c.1986C>G (p.Val662=)
12	g.76345999G>T	CA481010988	BBS10	c.1986C>A (p.Val662=)	dbSNP
12	g.76346000A>C	CA385808641	BBS10	c.1985T>G (p.Val662Gly)
12	g.76346000A>G	CA385808644	BBS10	c.1985T>C (p.Val662Ala)	gnomAD v4
12	g.76346000A>T	CA385808646	BBS10	c.1985T>A (p.Val662Asp)
12	g.76346001C>A	CA385808648	BBS10	c.1984G>T (p.Val662Phe)
12	g.76346001C>G	CA385808650	BBS10	c.1984G>C (p.Val662Leu)
12	g.76346001C>T	CA385808652	BBS10	c.1984G>A (p.Val662Ile)
12	g.76346002A>C	CA481010991	BBS10	c.1983T>G (p.Ala661=)
12	g.76346002A>G	CA481010992	BBS10	c.1983T>C (p.Ala661=)	gnomAD v4
12	g.76346002A>T	CA481010993	BBS10	c.1983T>A (p.Ala661=)
12	g.76346003G>A	CA385808656	BBS10	c.1982C>T (p.Ala661Val)	dbSNP gnomAD v3 gnomAD v4
12	g.76346003G>C	CA385808658	BBS10	c.1982C>G (p.Ala661Gly)
12	g.76346003G=	CA2047353107	BBS10	c.1982C= (p.Ala661=)
12	g.76346003G>T	CA385808654	BBS10	c.1982C>A (p.Ala661Asp)	gnomAD v4
12	g.76346004C>A	CA385808661	BBS10	c.1981G>T (p.Ala661Ser)
12	g.76346004C>G	CA385808665	BBS10	c.1981G>C (p.Ala661Pro)
12	g.76346004C>T	CA385808663	BBS10	c.1981G>A (p.Ala661Thr)
12	g.76346005T>A	CA6694063	BBS10	c.1980A>T (p.Arg660Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346005T>C	CA481010997	BBS10	c.1980A>G (p.Arg660=)
12	g.76346005T>G	CA385808666	BBS10	c.1980A>C (p.Arg660Ser)
12	g.76346005T=	CA2047353108	BBS10	c.1980A= (p.Arg660=)
12	g.76346006C>A	CA385808667	BBS10	c.1979G>T (p.Arg660Ile)
12	g.76346006C>G	CA385808669	BBS10	c.1979G>C (p.Arg660Thr)
12	g.76346006C>T	CA385808668	BBS10	c.1979G>A (p.Arg660Lys)
12	g.76346007T>A	CA385808671	BBS10	c.1978A>T (p.Arg660Ter)
12	g.76346007T>C	CA385808672	BBS10	c.1978A>G (p.Arg660Gly)	dbSNP
12	g.76346007T>G	CA6694064	BBS10	c.1978A>C (p.Arg660=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346007T=	CA2047353109	BBS10	c.1978A= (p.Arg660=)
12	g.76346008T>A	CA481011003	BBS10	c.1977A>T (p.Ile659=)
12	g.76346008T>C	CA385808674	BBS10	c.1977A>G (p.Ile659Met)
12	g.76346008T>G	CA481011004	BBS10	c.1977A>C (p.Ile659=)
12	g.76346009A>C	CA385808676	BBS10	c.1976T>G (p.Ile659Arg)
12	g.76346009A>G	CA385808679	BBS10	c.1976T>C (p.Ile659Thr)
12	g.76346009A>T	CA385808681	BBS10	c.1976T>A (p.Ile659Lys)
12	g.76346010T>A	CA6694065	BBS10	c.1975A>T (p.Ile659Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346010T>C	CA6694066	BBS10	c.1975A>G (p.Ile659Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346010T>G	CA385808685	BBS10	c.1975A>C (p.Ile659Leu)
12	g.76346010T=	CA2047353110	BBS10	c.1975A= (p.Ile659=)
12	g.76346010_76346014del	CA2697551496	BBS10	c.1971_1975del (p.Tyr658LysfsTer25)	ClinVar
12	g.76346011A=	CA2047353111	BBS10	c.1974T= (p.Tyr658=)
12	g.76346011A>C	CA385808691	BBS10	c.1974T>G (p.Tyr658Ter)
12	g.76346011A>G	CA6694067	BBS10	c.1974T>C (p.Tyr658=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346011A>T	CA385808688	BBS10	c.1974T>A (p.Tyr658Ter)
12	g.76346012T>A	CA10642492	BBS10	c.1973A>T (p.Tyr658Phe)	ClinVar dbSNP
12	g.76346012T>C	CA385808694	BBS10	c.1973A>G (p.Tyr658Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346012T>G	CA385808696	BBS10	c.1973A>C (p.Tyr658Ser)
12	g.76346012T=	CA2047353112	BBS10	c.1973A= (p.Tyr658=)
12	g.76346013A=	CA2047353113	BBS10	c.1972T= (p.Tyr658=)
12	g.76346013A>C	CA385808698	BBS10	c.1972T>G (p.Tyr658Asp)	dbSNP gnomAD v2 gnomAD v4
12	g.76346013A>G	CA385808700	BBS10	c.1972T>C (p.Tyr658His)
12	g.76346013A>T	CA385808701	BBS10	c.1972T>A (p.Tyr658Asn)	gnomAD v4
12	g.76346014T>A	CA481011015	BBS10	c.1971A>T (p.Thr657=)
12	g.76346014T>C	CA481011016	BBS10	c.1971A>G (p.Thr657=)	ClinVar dbSNP
12	g.76346014T>G	CA481011017	BBS10	c.1971A>C (p.Thr657=)	gnomAD v4
12	g.76346015G>A	CA6694068	BBS10	c.1970C>T (p.Thr657Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346015G>C	CA385808705	BBS10	c.1970C>G (p.Thr657Arg)
12	g.76346015G=	CA2047353114	BBS10	c.1970C= (p.Thr657=)
12	g.76346015G>T	CA6694069	BBS10	c.1970C>A (p.Thr657Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346016T>A	CA385808707	BBS10	c.1969A>T (p.Thr657Ser)
12	g.76346016T>C	CA6694070	BBS10	c.1969A>G (p.Thr657Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346016T>G	CA385808709	BBS10	c.1969A>C (p.Thr657Pro)
12	g.76346016T=	CA2047353115	BBS10	c.1969A= (p.Thr657=)
12	g.76346016dup	CA606185889	BBS10	c.1969dup (p.Thr657AsnfsTer28)	gnomAD v2 gnomAD v4
12	g.76346017A>C	CA385808710	BBS10	c.1968T>G (p.His656Gln)
12	g.76346017A>G	CA481011020	BBS10	c.1968T>C (p.His656=)
12	g.76346017A>T	CA385808712	BBS10	c.1968T>A (p.His656Gln)
12	g.76346018del	CA2695217030	BBS10	c.1967del (p.His656LeufsTer4)
12	g.76346018T>A	CA385808715	BBS10	c.1967A>T (p.His656Leu)
12	g.76346018T>C	CA385808716	BBS10	c.1967A>G (p.His656Arg)	dbSNP
12	g.76346018T>G	CA385808717	BBS10	c.1967A>C (p.His656Pro)	dbSNP gnomAD v2 gnomAD v4
12	g.76346018T=	CA2047353116	BBS10	c.1967A= (p.His656=)
12	g.76346021_76346030del	CA2695217029	BBS10	c.1958_1967del (p.Ser653IlefsTer4)
12	g.76346019G>A	CA6694071	BBS10	c.1966C>T (p.His656Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346019G>C	CA385808719	BBS10	c.1966C>G (p.His656Asp)
12	g.76346019G=	CA2047353117	BBS10	c.1966C= (p.His656=)
12	g.76346019G>T	CA385808722	BBS10	c.1966C>A (p.His656Asn)
12	g.76346020T>A	CA481011023	BBS10	c.1965A>T (p.Pro655=)
12	g.76346020T>C	CA481011024	BBS10	c.1965A>G (p.Pro655=)	dbSNP gnomAD v3 gnomAD v4
12	g.76346020T>G	CA481011025	BBS10	c.1965A>C (p.Pro655=)
12	g.76346020T=	CA2047353118	BBS10	c.1965A= (p.Pro655=)
12	g.76346021G>A	CA6694072	BBS10	c.1964C>T (p.Pro655Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346021G>C	CA385808727	BBS10	c.1964C>G (p.Pro655Arg)
12	g.76346021G=	CA2047353119	BBS10	c.1964C= (p.Pro655=)
12	g.76346021G>T	CA385808730	BBS10	c.1964C>A (p.Pro655Gln)	gnomAD v4
12	g.76346022G>A	CA239331491	BBS10	c.1963C>T (p.Pro655Ser)	dbSNP
12	g.76346022G>C	CA385808733	BBS10	c.1963C>G (p.Pro655Ala)
12	g.76346022G=	CA2047353120	BBS10	c.1963C= (p.Pro655=)
12	g.76346022G>T	CA385808736	BBS10	c.1963C>A (p.Pro655Thr)
12	g.76346023A>C	CA385808741	BBS10	c.1962T>G (p.Phe654Leu)
12	g.76346023A>G	CA481011029	BBS10	c.1962T>C (p.Phe654=)
12	g.76346023A>T	CA385808739	BBS10	c.1962T>A (p.Phe654Leu)
12	g.76346024A>C	CA385808745	BBS10	c.1961T>G (p.Phe654Cys)
12	g.76346024A>G	CA385808747	BBS10	c.1961T>C (p.Phe654Ser)
12	g.76346024A>T	CA385808750	BBS10	c.1961T>A (p.Phe654Tyr)
12	g.76346025A>C	CA385808753	BBS10	c.1960T>G (p.Phe654Val)
12	g.76346025A>G	CA385808756	BBS10	c.1960T>C (p.Phe654Leu)
12	g.76346025A>T	CA385808758	BBS10	c.1960T>A (p.Phe654Ile)
12	g.76346025_76346026delinsAG	CA2047353121	BBS10	c.1959_1960delinsCT (p.Ser653=)
12	g.76346026del	CA16041575	BBS10	c.1959del (p.Pro655HisfsTer5)	ClinVar dbSNP
12	g.76346026G>A	CA6694073	BBS10	c.1959C>T (p.Ser653=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346026G>C	CA385808763	BBS10	c.1959C>G (p.Ser653Arg)
12	g.76346026G=	CA2047353122	BBS10	c.1959C= (p.Ser653=)
12	g.76346026G>T	CA385808767	BBS10	c.1959C>A (p.Ser653Arg)
12	g.76346027C>A	CA385808773	BBS10	c.1958G>T (p.Ser653Ile)
12	g.76346027C>G	CA385808775	BBS10	c.1958G>C (p.Ser653Thr)
12	g.76346027C>T	CA385808778	BBS10	c.1958G>A (p.Ser653Asn)
12	g.76346028T>A	CA385808788	BBS10	c.1957A>T (p.Ser653Cys)
12	g.76346028T>C	CA385808789	BBS10	c.1957A>G (p.Ser653Gly)
12	g.76346028T>G	CA385808785	BBS10	c.1957A>C (p.Ser653Arg)
12	g.76346029del	CA2619945586	BBS10	c.1956del (p.Tyr652Ter)	gnomAD v4
12	g.76346029G>A	CA481011034	BBS10	c.1956C>T (p.Tyr652=)	ClinVar dbSNP
12	g.76346029G>C	CA385808798	BBS10	c.1956C>G (p.Tyr652Ter)	ClinVar
12	g.76346029G=	CA2047353123	BBS10	c.1956C= (p.Tyr652=)
12	g.76346029G>T	CA385808795	BBS10	c.1956C>A (p.Tyr652Ter)
12	g.76346030T>A	CA385808802	BBS10	c.1955A>T (p.Tyr652Phe)
12	g.76346030T>C	CA385808805	BBS10	c.1955A>G (p.Tyr652Cys)	gnomAD v4
12	g.76346030T>G	CA385808806	BBS10	c.1955A>C (p.Tyr652Ser)
12	g.76346031A=	CA2047353124	BBS10	c.1954T= (p.Tyr652=)
12	g.76346031A>C	CA385808807	BBS10	c.1954T>G (p.Tyr652Asp)
12	g.76346031A>G	CA6694074	BBS10	c.1954T>C (p.Tyr652His)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346031A>T	CA385808809	BBS10	c.1954T>A (p.Tyr652Asn)
12	g.76346032C>A	CA385808812	BBS10	c.1953G>T (p.Lys651Asn)
12	g.76346032C=	CA2047353125	BBS10	c.1953G= (p.Lys651=)
12	g.76346032C>G	CA385808814	BBS10	c.1953G>C (p.Lys651Asn)
12	g.76346032C>T	CA481011044	BBS10	c.1953G>A (p.Lys651=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346032_76346033del	CA912974180	BBS10	c.1952_1953del (p.Lys651IlefsTer?)
12	g.76346032_76346033delinsCT	CA2047353126	BBS10	c.1952_1953delinsAG (p.Lys651=)
12	g.76346033T>A	CA385808818	BBS10	c.1952A>T (p.Lys651Met)
12	g.76346033T>C	CA385808819	BBS10	c.1952A>G (p.Lys651Arg)
12	g.76346033T>G	CA385808822	BBS10	c.1952A>C (p.Lys651Thr)
12	g.76346035del	CA658823422	BBS10	c.1952del (p.Lys651SerfsTer9)	ClinVar dbSNP
12	g.76346034T>A	CA385808831	BBS10	c.1951A>T (p.Lys651Ter)
12	g.76346034T>C	CA385808828	BBS10	c.1951A>G (p.Lys651Glu)	gnomAD v4
12	g.76346034T>G	CA385808825	BBS10	c.1951A>C (p.Lys651Gln)
12	g.76346035T>A	CA481011046	BBS10	c.1950A>T (p.Gly650=)
12	g.76346035T>C	CA481011047	BBS10	c.1950A>G (p.Gly650=)	gnomAD v4
12	g.76346035T>G	CA481011048	BBS10	c.1950A>C (p.Gly650=)	ClinVar dbSNP
12	g.76346035T=	CA2047353128	BBS10	c.1950A= (p.Gly650=)
12	g.76346035_76346036del	CA912974181	BBS10	c.1949_1950del (p.Gly650GlufsTer?)
12	g.76346035_76346036delinsTC	CA2047353127	BBS10	c.1949_1950delinsGA (p.Gly650=)

Number of alleles fetched