Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76346247A>C	CA385810239	BBS10	c.1738T>G (p.Leu580Val)
12	g.76346247A>G	CA481011066	BBS10	c.1738T>C (p.Leu580=)	gnomAD v4
12	g.76346247A>T	CA385810241	BBS10	c.1738T>A (p.Leu580Ile)
12	g.76346248C>A	CA385810248	BBS10	c.1737G>T (p.Lys579Asn)	dbSNP
12	g.76346248C=	CA2047353223	BBS10	c.1737G= (p.Lys579=)
12	g.76346248C>G	CA385810245	BBS10	c.1737G>C (p.Lys579Asn)
12	g.76346248C>T	CA6694114	BBS10	c.1737G>A (p.Lys579=)	dbSNP ExAC gnomAD v2
12	g.76346249T>A	CA385810251	BBS10	c.1736A>T (p.Lys579Met)
12	g.76346249T>C	CA260178	BBS10	c.1736A>G (p.Lys579Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346249T>G	CA385810254	BBS10	c.1736A>C (p.Lys579Thr)
12	g.76346249T=	CA2047353224	BBS10	c.1736A= (p.Lys579=)
12	g.76346250T>A	CA385810257	BBS10	c.1735A>T (p.Lys579Ter)
12	g.76346250T>C	CA385810260	BBS10	c.1735A>G (p.Lys579Glu)	dbSNP gnomAD v4
12	g.76346250T>G	CA6694115	BBS10	c.1735A>C (p.Lys579Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346250T=	CA2047353225	BBS10	c.1735A= (p.Lys579=)
12	g.76346251A>C	CA385810264	BBS10	c.1734T>G (p.Cys578Trp)
12	g.76346251A>G	CA481011071	BBS10	c.1734T>C (p.Cys578=)
12	g.76346251A>T	CA385810266	BBS10	c.1734T>A (p.Cys578Ter)
12	g.76346252C>A	CA385810269	BBS10	c.1733G>T (p.Cys578Phe)	gnomAD v4
12	g.76346252C=	CA2047353226	BBS10	c.1733G= (p.Cys578=)
12	g.76346252C>G	CA385810272	BBS10	c.1733G>C (p.Cys578Ser)	dbSNP
12	g.76346252C>T	CA385810275	BBS10	c.1733G>A (p.Cys578Tyr)
12	g.76346253A>C	CA385810287	BBS10	c.1732T>G (p.Cys578Gly)
12	g.76346253A>G	CA385810284	BBS10	c.1732T>C (p.Cys578Arg)
12	g.76346253A>T	CA385810278	BBS10	c.1732T>A (p.Cys578Ser)
12	g.76346254G>A	CA481011073	BBS10	c.1731C>T (p.Ser577=)
12	g.76346254G>C	CA385810289	BBS10	c.1731C>G (p.Ser577Arg)
12	g.76346254G>T	CA385810292	BBS10	c.1731C>A (p.Ser577Arg)
12	g.76346257_76346271del	CA2619945593	BBS10	c.1717_1731del (p.Met573_Ser577del)	gnomAD v4
12	g.76346255C>A	CA385810295	BBS10	c.1730G>T (p.Ser577Ile)
12	g.76346255C>G	CA385810296	BBS10	c.1730G>C (p.Ser577Thr)
12	g.76346255C>T	CA385810299	BBS10	c.1730G>A (p.Ser577Asn)
12	g.76346256T>A	CA385810309	BBS10	c.1729A>T (p.Ser577Cys)
12	g.76346256T>C	CA385810306	BBS10	c.1729A>G (p.Ser577Gly)
12	g.76346256T>G	CA385810304	BBS10	c.1729A>C (p.Ser577Arg)
12	g.76346257C>A	CA481011082	BBS10	c.1728G>T (p.Val576=)
12	g.76346257C=	CA2047353227	BBS10	c.1728G= (p.Val576=)
12	g.76346257C>G	CA481011081	BBS10	c.1728G>C (p.Val576=)
12	g.76346257C>T	CA481011080	BBS10	c.1728G>A (p.Val576=)	dbSNP gnomAD v2
12	g.76346258A>C	CA385810311	BBS10	c.1727T>G (p.Val576Gly)	gnomAD v4
12	g.76346258A>G	CA385810313	BBS10	c.1727T>C (p.Val576Ala)
12	g.76346258A>T	CA385810315	BBS10	c.1727T>A (p.Val576Glu)
12	g.76346259C>A	CA385810318	BBS10	c.1726G>T (p.Val576Leu)
12	g.76346259C>G	CA385810320	BBS10	c.1726G>C (p.Val576Leu)
12	g.76346259C>T	CA385810323	BBS10	c.1726G>A (p.Val576Met)	gnomAD v4
12	g.76346260T>A	CA481011089	BBS10	c.1725A>T (p.Pro575=)
12	g.76346260T>C	CA481011091	BBS10	c.1725A>G (p.Pro575=)
12	g.76346260T>G	CA481011092	BBS10	c.1725A>C (p.Pro575=)	ClinVar
12	g.76346260_76346261delinsTG	CA2047353228	BBS10	c.1724_1725delinsCA (p.Pro575=)
12	g.76346261G>A	CA385810324	BBS10	c.1724C>T (p.Pro575Leu)	ClinVar
12	g.76346261G>C	CA385810326	BBS10	c.1724C>G (p.Pro575Arg)
12	g.76346261G>T	CA385810325	BBS10	c.1724C>A (p.Pro575Gln)	gnomAD v4
12	g.76346262del	CA16041576	BBS10	c.1724del (p.Pro575GlnfsTer2)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346262G>A	CA385810328	BBS10	c.1723C>T (p.Pro575Ser)
12	g.76346262G>C	CA385810330	BBS10	c.1723C>G (p.Pro575Ala)
12	g.76346262G=	CA2047353229	BBS10	c.1723C= (p.Pro575=)
12	g.76346262G>T	CA385810332	BBS10	c.1723C>A (p.Pro575Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.76346263T>A	CA385810335	BBS10	c.1722A>T (p.Leu574Phe)
12	g.76346263T>C	CA481011101	BBS10	c.1722A>G (p.Leu574=)
12	g.76346263T>G	CA385810336	BBS10	c.1722A>C (p.Leu574Phe)
12	g.76346264A>C	CA385810339	BBS10	c.1721T>G (p.Leu574Ter)
12	g.76346264A>G	CA385810341	BBS10	c.1721T>C (p.Leu574Ser)
12	g.76346264A>T	CA385810352	BBS10	c.1721T>A (p.Leu574Ter)
12	g.76346265A>C	CA385810354	BBS10	c.1720T>G (p.Leu574Val)
12	g.76346265A>G	CA481011105	BBS10	c.1720T>C (p.Leu574=)
12	g.76346265A>T	CA385810355	BBS10	c.1720T>A (p.Leu574Ile)
12	g.76346266C>A	CA385810361	BBS10	c.1719G>T (p.Met573Ile)
12	g.76346266C=	CA2047353230	BBS10	c.1719G= (p.Met573=)
12	g.76346266C>G	CA6694116	BBS10	c.1719G>C (p.Met573Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346266C>T	CA385810359	BBS10	c.1719G>A (p.Met573Ile)
12	g.76346267A>C	CA385810366	BBS10	c.1718T>G (p.Met573Arg)
12	g.76346267A>G	CA385810364	BBS10	c.1718T>C (p.Met573Thr)	gnomAD v4
12	g.76346267A>T	CA385810368	BBS10	c.1718T>A (p.Met573Lys)
12	g.76346268T>A	CA385810369	BBS10	c.1717A>T (p.Met573Leu)
12	g.76346268T>C	CA385810372	BBS10	c.1717A>G (p.Met573Val)	gnomAD v4
12	g.76346268T>G	CA385810370	BBS10	c.1717A>C (p.Met573Leu)
12	g.76346268_76346269insACG	CA2796591355	BBS10	c.1716_1717insCGT (p.Ser572_Met573insArg)
12	g.76346269G>A	CA481011112	BBS10	c.1716C>T (p.Ser572=)	ClinVar dbSNP
12	g.76346269G>C	CA385810374	BBS10	c.1716C>G (p.Ser572Arg)
12	g.76346269G>T	CA385810376	BBS10	c.1716C>A (p.Ser572Arg)	gnomAD v4
12	g.76346270C>A	CA385810378	BBS10	c.1715G>T (p.Ser572Ile)
12	g.76346270C=	CA2047353231	BBS10	c.1715G= (p.Ser572=)
12	g.76346270C>G	CA385810380	BBS10	c.1715G>C (p.Ser572Thr)
12	g.76346270C>T	CA385810383	BBS10	c.1715G>A (p.Ser572Asn)	dbSNP gnomAD v3 gnomAD v4
12	g.76346271T>A	CA385810384	BBS10	c.1714A>T (p.Ser572Cys)
12	g.76346271T>C	CA385810387	BBS10	c.1714A>G (p.Ser572Gly)
12	g.76346271T>G	CA385810394	BBS10	c.1714A>C (p.Ser572Arg)
12	g.76346272T>A	CA481011120	BBS10	c.1713A>T (p.Gly571=)
12	g.76346272T>C	CA481011122	BBS10	c.1713A>G (p.Gly571=)
12	g.76346272T>G	CA481011123	BBS10	c.1713A>C (p.Gly571=)
12	g.76346273C>A	CA385810396	BBS10	c.1712G>T (p.Gly571Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346273C=	CA2047353232	BBS10	c.1712G= (p.Gly571=)
12	g.76346273C>G	CA385810398	BBS10	c.1712G>C (p.Gly571Ala)
12	g.76346273C>T	CA385810400	BBS10	c.1712G>A (p.Gly571Glu)	dbSNP gnomAD v3 gnomAD v4
12	g.76346274C>A	CA6694117	BBS10	c.1711G>T (p.Gly571Ter)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346274C=	CA2047353233	BBS10	c.1711G= (p.Gly571=)
12	g.76346274C>G	CA385810404	BBS10	c.1711G>C (p.Gly571Arg)
12	g.76346274C>T	CA385810406	BBS10	c.1711G>A (p.Gly571Arg)
12	g.76346275C>A	CA385810412	BBS10	c.1710G>T (p.Lys570Asn)
12	g.76346275C=	CA2047353234	BBS10	c.1710G= (p.Lys570=)
12	g.76346275C>G	CA385810415	BBS10	c.1710G>C (p.Lys570Asn)
12	g.76346275C>T	CA481011135	BBS10	c.1710G>A (p.Lys570=)	dbSNP gnomAD v2 gnomAD v4
12	g.76346275_76346277delinsCTT	CA2047353235	BBS10	c.1708_1710delinsAAG (p.Lys570=)
12	g.76346276T>A	CA385810418	BBS10	c.1709A>T (p.Lys570Met)
12	g.76346276T>C	CA385810422	BBS10	c.1709A>G (p.Lys570Arg)	dbSNP
12	g.76346276T>G	CA385810424	BBS10	c.1709A>C (p.Lys570Thr)
12	g.76346276T=	CA2047353237	BBS10	c.1709A= (p.Lys570=)
12	g.76346277_76346278del	CA2047353236	BBS10	c.1708_1709del (p.Lys570GlyfsTer9)	dbSNP
12	g.76346277T>A	CA385810428	BBS10	c.1708A>T (p.Lys570Ter)
12	g.76346277T>C	CA385810430	BBS10	c.1708A>G (p.Lys570Glu)
12	g.76346277T>G	CA385810433	BBS10	c.1708A>C (p.Lys570Gln)
12	g.76346278T>A	CA385810436	BBS10	c.1707A>T (p.Arg569Ser)
12	g.76346278T>C	CA481011144	BBS10	c.1707A>G (p.Arg569=)
12	g.76346278T>G	CA385810439	BBS10	c.1707A>C (p.Arg569Ser)
12	g.76346279C>A	CA385810444	BBS10	c.1706G>T (p.Arg569Ile)
12	g.76346279C>G	CA385810446	BBS10	c.1706G>C (p.Arg569Thr)
12	g.76346279C>T	CA385810441	BBS10	c.1706G>A (p.Arg569Lys)
12	g.76346280T>A	CA385810448	BBS10	c.1705A>T (p.Arg569Ter)
12	g.76346280T>C	CA385810451	BBS10	c.1705A>G (p.Arg569Gly)
12	g.76346280T>G	CA481011146	BBS10	c.1705A>C (p.Arg569=)
12	g.76346281A=	CA2047353238	BBS10	c.1704T= (p.Thr568=)
12	g.76346281A>C	CA481011148	BBS10	c.1704T>G (p.Thr568=)
12	g.76346281A>G	CA481011150	BBS10	c.1704T>C (p.Thr568=)	ClinVar dbSNP
12	g.76346281A>T	CA481011154	BBS10	c.1704T>A (p.Thr568=)
12	g.76346282G>A	CA385810452	BBS10	c.1703C>T (p.Thr568Ile)
12	g.76346282G>C	CA385810454	BBS10	c.1703C>G (p.Thr568Ser)	gnomAD v4
12	g.76346282G>T	CA385810455	BBS10	c.1703C>A (p.Thr568Asn)
12	g.76346283del	CA2580086677	BBS10	c.1702del (p.Thr568LeufsTer9)	ClinVar
12	g.76346283T>A	CA385810457	BBS10	c.1702A>T (p.Thr568Ser)
12	g.76346283T>C	CA239331651	BBS10	c.1702A>G (p.Thr568Ala)	dbSNP gnomAD v4
12	g.76346283T>G	CA385810460	BBS10	c.1702A>C (p.Thr568Pro)
12	g.76346283T=	CA2047353239	BBS10	c.1702A= (p.Thr568=)
12	g.76346284A>C	CA385810462	BBS10	c.1701T>G (p.Ile567Met)
12	g.76346284A>G	CA481011162	BBS10	c.1701T>C (p.Ile567=)
12	g.76346284A>T	CA481011165	BBS10	c.1701T>A (p.Ile567=)
12	g.76346285dup	CA2695199109	BBS10	c.1701dup (p.Thr568TyrfsTer2)	ClinVar
12	g.76346285A=	CA2047353240	BBS10	c.1700T= (p.Ile567=)
12	g.76346285A>C	CA385810463	BBS10	c.1700T>G (p.Ile567Ser)
12	g.76346285A>G	CA6694118	BBS10	c.1700T>C (p.Ile567Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346285A>T	CA385810465	BBS10	c.1700T>A (p.Ile567Asn)
12	g.76346286T>A	CA385810469	BBS10	c.1699A>T (p.Ile567Phe)
12	g.76346286T>C	CA385810470	BBS10	c.1699A>G (p.Ile567Val)
12	g.76346286T>G	CA385810467	BBS10	c.1699A>C (p.Ile567Leu)
12	g.76346287A>C	CA385810472	BBS10	c.1698T>G (p.Asn566Lys)
12	g.76346287A>G	CA481011169	BBS10	c.1698T>C (p.Asn566=)	ClinVar
12	g.76346287A>T	CA385810474	BBS10	c.1698T>A (p.Asn566Lys)
12	g.76346288T>A	CA385810482	BBS10	c.1697A>T (p.Asn566Ile)
12	g.76346288T>C	CA385810483	BBS10	c.1697A>G (p.Asn566Ser)	dbSNP gnomAD v4
12	g.76346288T>G	CA385810485	BBS10	c.1697A>C (p.Asn566Thr)
12	g.76346288T=	CA2047353241	BBS10	c.1697A= (p.Asn566=)
12	g.76346289T>A	CA385810489	BBS10	c.1696A>T (p.Asn566Tyr)
12	g.76346289T>C	CA6694119	BBS10	c.1696A>G (p.Asn566Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346289T>G	CA385810487	BBS10	c.1696A>C (p.Asn566His)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.76346289T=	CA2047353242	BBS10	c.1696A= (p.Asn566=)
12	g.76346290T>A	CA481011175	BBS10	c.1695A>T (p.Thr565=)
12	g.76346290T>C	CA481011176	BBS10	c.1695A>G (p.Thr565=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346290T>G	CA481011179	BBS10	c.1695A>C (p.Thr565=)
12	g.76346290T=	CA2047353243	BBS10	c.1695A= (p.Thr565=)
12	g.76346291G>A	CA385810491	BBS10	c.1694C>T (p.Thr565Ile)
12	g.76346291G>C	CA385810492	BBS10	c.1694C>G (p.Thr565Arg)
12	g.76346291G=	CA2047353244	BBS10	c.1694C= (p.Thr565=)
12	g.76346291G>T	CA6694120	BBS10	c.1694C>A (p.Thr565Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346292T>A	CA385810495	BBS10	c.1693A>T (p.Thr565Ser)
12	g.76346292T>C	CA385810496	BBS10	c.1693A>G (p.Thr565Ala)
12	g.76346292T>G	CA385810498	BBS10	c.1693A>C (p.Thr565Pro)	gnomAD v4
12	g.76346293G>A	CA481011184	BBS10	c.1692C>T (p.Val564=)	dbSNP
12	g.76346293G>C	CA481011185	BBS10	c.1692C>G (p.Val564=)
12	g.76346293G=	CA2047353245	BBS10	c.1692C= (p.Val564=)
12	g.76346293G>T	CA481011187	BBS10	c.1692C>A (p.Val564=)
12	g.76346294A>C	CA385810502	BBS10	c.1691T>G (p.Val564Gly)
12	g.76346294A>G	CA385810503	BBS10	c.1691T>C (p.Val564Ala)
12	g.76346294A>T	CA385810501	BBS10	c.1691T>A (p.Val564Asp)
12	g.76346295C>A	CA385810507	BBS10	c.1690G>T (p.Val564Phe)	gnomAD v4
12	g.76346295C>G	CA385810504	BBS10	c.1690G>C (p.Val564Leu)
12	g.76346295C>T	CA385810505	BBS10	c.1690G>A (p.Val564Ile)	gnomAD v4
12	g.76346296C>A	CA385810508	BBS10	c.1689G>T (p.Gln563His)
12	g.76346296C>G	CA385810509	BBS10	c.1689G>C (p.Gln563His)
12	g.76346296C>T	CA481011194	BBS10	c.1689G>A (p.Gln563=)
12	g.76346297T>A	CA385810510	BBS10	c.1688A>T (p.Gln563Leu)
12	g.76346297T>C	CA385810511	BBS10	c.1688A>G (p.Gln563Arg)	gnomAD v4
12	g.76346297T>G	CA385810513	BBS10	c.1688A>C (p.Gln563Pro)
12	g.76346298G>A	CA385810514	BBS10	c.1687C>T (p.Gln563Ter)	ClinVar dbSNP
12	g.76346298G>C	CA385810515	BBS10	c.1687C>G (p.Gln563Glu)
12	g.76346298G=	CA2047353246	BBS10	c.1687C= (p.Gln563=)
12	g.76346298G>T	CA385810519	BBS10	c.1687C>A (p.Gln563Lys)
12	g.76346299T>A	CA385810520	BBS10	c.1686A>T (p.Leu562Phe)
12	g.76346299T>C	CA481011199	BBS10	c.1686A>G (p.Leu562=)	ClinVar dbSNP COSMIC
12	g.76346299T>G	CA385810522	BBS10	c.1686A>C (p.Leu562Phe)
12	g.76346299T=	CA2047353247	BBS10	c.1686A= (p.Leu562=)
12	g.76346300A>C	CA385810526	BBS10	c.1685T>G (p.Leu562Ter)
12	g.76346300A>G	CA385810527	BBS10	c.1685T>C (p.Leu562Ser)
12	g.76346300A>T	CA385810523	BBS10	c.1685T>A (p.Leu562Ter)
12	g.76346301A=	CA2047353248	BBS10	c.1684T= (p.Leu562=)
12	g.76346301A>C	CA6694121	BBS10	c.1684T>G (p.Leu562Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346301A>G	CA6694123	BBS10	c.1684T>C (p.Leu562=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346301A>T	CA6694122	BBS10	c.1684T>A (p.Leu562Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346302A=	CA2047353249	BBS10	c.1683T= (p.Asn561=)
12	g.76346302A>C	CA385810533	BBS10	c.1683T>G (p.Asn561Lys)
12	g.76346302A>G	CA481011206	BBS10	c.1683T>C (p.Asn561=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346302A>T	CA385810534	BBS10	c.1683T>A (p.Asn561Lys)
12	g.76346303T>A	CA385810537	BBS10	c.1682A>T (p.Asn561Ile)
12	g.76346303T>C	CA385810535	BBS10	c.1682A>G (p.Asn561Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.76346303T>G	CA385810536	BBS10	c.1682A>C (p.Asn561Thr)
12	g.76346303T=	CA2047353250	BBS10	c.1682A= (p.Asn561=)
12	g.76346304T>A	CA385810538	BBS10	c.1681A>T (p.Asn561Tyr)
12	g.76346304T>C	CA385810540	BBS10	c.1681A>G (p.Asn561Asp)	gnomAD v4
12	g.76346304T>G	CA385810543	BBS10	c.1681A>C (p.Asn561His)
12	g.76346305T>A	CA385810545	BBS10	c.1680A>T (p.Glu560Asp)	dbSNP gnomAD v2 gnomAD v4
12	g.76346305T>C	CA481011213	BBS10	c.1680A>G (p.Glu560=)
12	g.76346305T>G	CA385810548	BBS10	c.1680A>C (p.Glu560Asp)
12	g.76346305T=	CA2047353251	BBS10	c.1680A= (p.Glu560=)
12	g.76346306T>A	CA385810553	BBS10	c.1679A>T (p.Glu560Val)
12	g.76346306T>C	CA385810551	BBS10	c.1679A>G (p.Glu560Gly)	gnomAD v4
12	g.76346306T>G	CA385810550	BBS10	c.1679A>C (p.Glu560Ala)
12	g.76346307C>A	CA385810555	BBS10	c.1678G>T (p.Glu560Ter)
12	g.76346307C=	CA2047353253	BBS10	c.1678G= (p.Glu560=)
12	g.76346307C>G	CA385810557	BBS10	c.1678G>C (p.Glu560Gln)
12	g.76346307C>T	CA6694124	BBS10	c.1678G>A (p.Glu560Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346307_76346308delinsCG	CA2047353252	BBS10	c.1677_1678delinsCG (p.Tyr559=)
12	g.76346308del	CA606185890	BBS10	c.1677del (p.Tyr559Ter)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346308G>A	CA6694125	BBS10	c.1677C>T (p.Tyr559=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.76346308G>C	CA16041577	BBS10	c.1677C>G (p.Tyr559Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346308G=	CA2047353254	BBS10	c.1677C= (p.Tyr559=)
12	g.76346308G>T	CA6694126	BBS10	c.1677C>A (p.Tyr559Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346309del	CA2695199110	BBS10	c.1676del (p.Tyr559SerfsTer18)	ClinVar
12	g.76346309T>A	CA385810561	BBS10	c.1676A>T (p.Tyr559Phe)
12	g.76346309T>C	CA385810562	BBS10	c.1676A>G (p.Tyr559Cys)
12	g.76346309T>G	CA385810563	BBS10	c.1676A>C (p.Tyr559Ser)
12	g.76346309dup	CA913191137	BBS10	c.1676dup (p.Tyr559Ter)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.76346309_76346312delinsTAAG	CA2047353255	BBS10	c.1673_1676delinsCTTA (p.Ser558=)
12	g.76346310A>C	CA385810566	BBS10	c.1675T>G (p.Tyr559Asp)
12	g.76346310A>G	CA385810567	BBS10	c.1675T>C (p.Tyr559His)	gnomAD v4
12	g.76346310A>T	CA385810569	BBS10	c.1675T>A (p.Tyr559Asn)
12	g.76346312_76346314del	CA6694127	BBS10	c.1673_1675del (p.Ser558del)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346311A=	CA2047353256	BBS10	c.1674T= (p.Ser558=)
12	g.76346311A>C	CA6694128	BBS10	c.1674T>G (p.Ser558=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346311A>G	CA481011226	BBS10	c.1674T>C (p.Ser558=)
12	g.76346311A>T	CA481011224	BBS10	c.1674T>A (p.Ser558=)
12	g.76346312G>A	CA385810576	BBS10	c.1673C>T (p.Ser558Phe)
12	g.76346312G>C	CA385810574	BBS10	c.1673C>G (p.Ser558Cys)
12	g.76346312G>T	CA385810573	BBS10	c.1673C>A (p.Ser558Tyr)	COSMIC
12	g.76346313A>C	CA385810577	BBS10	c.1672T>G (p.Ser558Ala)
12	g.76346313A>G	CA385810579	BBS10	c.1672T>C (p.Ser558Pro)
12	g.76346313A>T	CA385810581	BBS10	c.1672T>A (p.Ser558Thr)
12	g.76346314A>C	CA385810582	BBS10	c.1671T>G (p.Ile557Met)
12	g.76346314A>G	CA481011230	BBS10	c.1671T>C (p.Ile557=)
12	g.76346314A>T	CA481011232	BBS10	c.1671T>A (p.Ile557=)
12	g.76346315A>C	CA385810584	BBS10	c.1670T>G (p.Ile557Ser)
12	g.76346315A>G	CA385810587	BBS10	c.1670T>C (p.Ile557Thr)
12	g.76346315A>T	CA385810588	BBS10	c.1670T>A (p.Ile557Asn)
12	g.76346316T>A	CA385810590	BBS10	c.1669A>T (p.Ile557Phe)
12	g.76346316T>C	CA6694129	BBS10	c.1669A>G (p.Ile557Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346316T>G	CA385810591	BBS10	c.1669A>C (p.Ile557Leu)
12	g.76346316T=	CA2047353257	BBS10	c.1669A= (p.Ile557=)
12	g.76346316_76346321delinsTTTCTA	CA2047353258	BBS10	c.1664_1669delinsTAGAAA (p.Ile555=)
12	g.76346317T>A	CA385810593	BBS10	c.1668A>T (p.Glu556Asp)
12	g.76346317T>C	CA481011235	BBS10	c.1668A>G (p.Glu556=)	gnomAD v4
12	g.76346317T>G	CA385810595	BBS10	c.1668A>C (p.Glu556Asp)
12	g.76346324_76346328del	CA16041578	BBS10	c.1664_1668del (p.Ile555AsnfsTer13)	ClinVar dbSNP gnomAD v4
12	g.76346318T>A	CA385810599	BBS10	c.1667A>T (p.Glu556Val)
12	g.76346318T>C	CA385810600	BBS10	c.1667A>G (p.Glu556Gly)	ClinVar
12	g.76346318T>G	CA385810597	BBS10	c.1667A>C (p.Glu556Ala)
12	g.76346319C>A	CA385810602	BBS10	c.1666G>T (p.Glu556Ter)
12	g.76346319C>G	CA385810606	BBS10	c.1666G>C (p.Glu556Gln)
12	g.76346319C>T	CA385810604	BBS10	c.1666G>A (p.Glu556Lys)
12	g.76346320T>A	CA481011241	BBS10	c.1665A>T (p.Ile555=)	gnomAD v4
12	g.76346320T>C	CA385810608	BBS10	c.1665A>G (p.Ile555Met)
12	g.76346320T>G	CA481011239	BBS10	c.1665A>C (p.Ile555=)
12	g.76346321A=	CA2047353259	BBS10	c.1664T= (p.Ile555=)
12	g.76346321A>C	CA385810612	BBS10	c.1664T>G (p.Ile555Arg)
12	g.76346321A>G	CA385810610	BBS10	c.1664T>C (p.Ile555Thr)	ClinVar dbSNP gnomAD v4
12	g.76346321A>T	CA385810614	BBS10	c.1664T>A (p.Ile555Lys)
12	g.76346322T>A	CA385810616	BBS10	c.1663A>T (p.Ile555Leu)
12	g.76346322T>C	CA385810617	BBS10	c.1663A>G (p.Ile555Val)
12	g.76346322T>G	CA385810620	BBS10	c.1663A>C (p.Ile555Leu)
12	g.76346323T>A	CA385810622	BBS10	c.1662A>T (p.Arg554Ser)
12	g.76346323T>C	CA481011244	BBS10	c.1662A>G (p.Arg554=)	gnomAD v4
12	g.76346323T>G	CA385810624	BBS10	c.1662A>C (p.Arg554Ser)
12	g.76346324C>A	CA385810627	BBS10	c.1661G>T (p.Arg554Ile)	gnomAD v4
12	g.76346324C>G	CA385810628	BBS10	c.1661G>C (p.Arg554Thr)
12	g.76346324C>T	CA385810630	BBS10	c.1661G>A (p.Arg554Lys)	gnomAD v4
12	g.76346325T>A	CA385810632	BBS10	c.1660A>T (p.Arg554Ter)
12	g.76346325T>C	CA385810633	BBS10	c.1660A>G (p.Arg554Gly)
12	g.76346325T>G	CA481011246	BBS10	c.1660A>C (p.Arg554=)
12	g.76346326A>C	CA385810636	BBS10	c.1659T>G (p.Asn553Lys)
12	g.76346326A>G	CA481011248	BBS10	c.1659T>C (p.Asn553=)
12	g.76346326A>T	CA385810638	BBS10	c.1659T>A (p.Asn553Lys)
12	g.76346327T>A	CA385810642	BBS10	c.1658A>T (p.Asn553Ile)
12	g.76346327T>C	CA385810639	BBS10	c.1658A>G (p.Asn553Ser)
12	g.76346327T>G	CA385810641	BBS10	c.1658A>C (p.Asn553Thr)
12	g.76346328T>A	CA385810643	BBS10	c.1657A>T (p.Asn553Tyr)
12	g.76346328T>C	CA385810645	BBS10	c.1657A>G (p.Asn553Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346328T>G	CA385810646	BBS10	c.1657A>C (p.Asn553His)
12	g.76346328T=	CA2047353260	BBS10	c.1657A= (p.Asn553=)
12	g.76346329T>A	CA481011249	BBS10	c.1656A>T (p.Gly552=)
12	g.76346329T>C	CA481011250	BBS10	c.1656A>G (p.Gly552=)
12	g.76346329T>G	CA481011251	BBS10	c.1656A>C (p.Gly552=)	ClinVar dbSNP
12	g.76346330C>A	CA385810647	BBS10	c.1655G>T (p.Gly552Val)
12	g.76346330C>G	CA385810649	BBS10	c.1655G>C (p.Gly552Ala)
12	g.76346330C>T	CA385810650	BBS10	c.1655G>A (p.Gly552Glu)	gnomAD v4
12	g.76346333del	CA2726584723	BBS10	c.1655del (p.Gly552GlufsTer4)	dbSNP
12	g.76346332_76346333del	CA2695199111	BBS10	c.1654_1655del (p.Gly552LysfsTer2)	ClinVar
12	g.76346331C>A	CA385810651	BBS10	c.1654G>T (p.Gly552Ter)	ClinVar dbSNP
12	g.76346331C>G	CA385810653	BBS10	c.1654G>C (p.Gly552Arg)
12	g.76346331C>T	CA385810655	BBS10	c.1654G>A (p.Gly552Arg)	COSMIC
12	g.76346332C>A	CA385810657	BBS10	c.1653G>T (p.Arg551Ser)
12	g.76346332C>G	CA385810658	BBS10	c.1653G>C (p.Arg551Ser)
12	g.76346332C>T	CA481011253	BBS10	c.1653G>A (p.Arg551=)
12	g.76346333C>A	CA385810663	BBS10	c.1652G>T (p.Arg551Met)
12	g.76346333C=	CA2047353261	BBS10	c.1652G= (p.Arg551=)
12	g.76346333C>G	CA385810662	BBS10	c.1652G>C (p.Arg551Thr)
12	g.76346333C>T	CA385810660	BBS10	c.1652G>A (p.Arg551Lys)	dbSNP
12	g.76346334T>A	CA385810665	BBS10	c.1651A>T (p.Arg551Trp)
12	g.76346334T>C	CA385810668	BBS10	c.1651A>G (p.Arg551Gly)
12	g.76346334T>G	CA481011255	BBS10	c.1651A>C (p.Arg551=)
12	g.76346335T>A	CA481011258	BBS10	c.1650A>T (p.Thr550=)
12	g.76346335T>C	CA481011257	BBS10	c.1650A>G (p.Thr550=)
12	g.76346335T>G	CA481011256	BBS10	c.1650A>C (p.Thr550=)
12	g.76346336G>A	CA385810669	BBS10	c.1649C>T (p.Thr550Ile)
12	g.76346336G>C	CA385810671	BBS10	c.1649C>G (p.Thr550Arg)	gnomAD v4
12	g.76346336G>T	CA385810673	BBS10	c.1649C>A (p.Thr550Lys)
12	g.76346337T>A	CA385810675	BBS10	c.1648A>T (p.Thr550Ser)
12	g.76346337T>C	CA385810678	BBS10	c.1648A>G (p.Thr550Ala)
12	g.76346337T>G	CA385810680	BBS10	c.1648A>C (p.Thr550Pro)
12	g.76346338T>A	CA481011262	BBS10	c.1647A>T (p.Ser549=)
12	g.76346338T>C	CA481011263	BBS10	c.1647A>G (p.Ser549=)
12	g.76346338T>G	CA481011264	BBS10	c.1647A>C (p.Ser549=)
12	g.76346339G>A	CA385810682	BBS10	c.1646C>T (p.Ser549Leu)	gnomAD v4
12	g.76346339G>C	CA385810684	BBS10	c.1646C>G (p.Ser549Ter)
12	g.76346339G>T	CA385810685	BBS10	c.1646C>A (p.Ser549Ter)
12	g.76346340A>C	CA385810688	BBS10	c.1645T>G (p.Ser549Ala)	gnomAD v4
12	g.76346340A>G	CA385810687	BBS10	c.1645T>C (p.Ser549Pro)
12	g.76346340A>T	CA385810686	BBS10	c.1645T>A (p.Ser549Thr)
12	g.76346341A=	CA2047353262	BBS10	c.1644T= (p.Tyr548=)
12	g.76346341A>C	CA385810689	BBS10	c.1644T>G (p.Tyr548Ter)
12	g.76346341A>G	CA6694130	BBS10	c.1644T>C (p.Tyr548=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346341A>T	CA385810690	BBS10	c.1644T>A (p.Tyr548Ter)
12	g.76346342T>A	CA385810691	BBS10	c.1643A>T (p.Tyr548Phe)	gnomAD v4
12	g.76346342T>C	CA385810692	BBS10	c.1643A>G (p.Tyr548Cys)	gnomAD v4
12	g.76346342T>G	CA385810694	BBS10	c.1643A>C (p.Tyr548Ser)
12	g.76346343A>C	CA385810695	BBS10	c.1642T>G (p.Tyr548Asp)
12	g.76346343A>G	CA385810696	BBS10	c.1642T>C (p.Tyr548His)
12	g.76346343A>T	CA385810698	BBS10	c.1642T>A (p.Tyr548Asn)
12	g.76346344A>C	CA481011270	BBS10	c.1641T>G (p.Ala547=)	ClinVar dbSNP gnomAD v4
12	g.76346344A>G	CA481011271	BBS10	c.1641T>C (p.Ala547=)
12	g.76346344A>T	CA481011272	BBS10	c.1641T>A (p.Ala547=)	ClinVar
12	g.76346345G>A	CA385810700	BBS10	c.1640C>T (p.Ala547Val)
12	g.76346345G>C	CA385810702	BBS10	c.1640C>G (p.Ala547Gly)
12	g.76346345G=	CA2047353263	BBS10	c.1640C= (p.Ala547=)
12	g.76346345G>T	CA6694131	BBS10	c.1640C>A (p.Ala547Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346346C>A	CA385810707	BBS10	c.1639G>T (p.Ala547Ser)
12	g.76346346C=	CA2047353264	BBS10	c.1639G= (p.Ala547=)
12	g.76346346C>G	CA385810706	BBS10	c.1639G>C (p.Ala547Pro)
12	g.76346346C>T	CA6694132	BBS10	c.1639G>A (p.Ala547Thr)	dbSNP ExAC gnomAD v2
12	g.76346347A>C	CA481011279	BBS10	c.1638T>G (p.Thr546=)
12	g.76346347A>G	CA481011280	BBS10	c.1638T>C (p.Thr546=)
12	g.76346347A>T	CA481011281	BBS10	c.1638T>A (p.Thr546=)

Number of alleles fetched