Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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=)
12	g.76346348G>A	CA385810708	BBS10	c.1637C>T (p.Thr546Ile)
12	g.76346348G>C	CA385810712	BBS10	c.1637C>G (p.Thr546Ser)
12	g.76346348G>T	CA385810710	BBS10	c.1637C>A (p.Thr546Asn)
12	g.76346349T>A	CA385810713	BBS10	c.1636A>T (p.Thr546Ser)
12	g.76346349T>C	CA385810715	BBS10	c.1636A>G (p.Thr546Ala)	gnomAD v4
12	g.76346349T>G	CA385810716	BBS10	c.1636A>C (p.Thr546Pro)
12	g.76346350G>A	CA481011283	BBS10	c.1635C>T (p.Ser545=)
12	g.76346350G>C	CA481011284	BBS10	c.1635C>G (p.Ser545=)
12	g.76346350G>T	CA481011286	BBS10	c.1635C>A (p.Ser545=)
12	g.76346351G>A	CA385810718	BBS10	c.1634C>T (p.Ser545Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.76346351G>C	CA385810719	BBS10	c.1634C>G (p.Ser545Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346351G=	CA2047353265	BBS10	c.1634C= (p.Ser545=)
12	g.76346351G>T	CA385810720	BBS10	c.1634C>A (p.Ser545Tyr)
12	g.76346352A=	CA2047353266	BBS10	c.1633T= (p.Ser545=)
12	g.76346352A>C	CA385810721	BBS10	c.1633T>G (p.Ser545Ala)
12	g.76346352A>G	CA385810722	BBS10	c.1633T>C (p.Ser545Pro)
12	g.76346352A>T	CA6694133	BBS10	c.1633T>A (p.Ser545Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346353A>C	CA385810724	BBS10	c.1632T>G (p.Asn544Lys)
12	g.76346353A>G	CA481010590	BBS10	c.1632T>C (p.Asn544=)
12	g.76346353A>T	CA385810726	BBS10	c.1632T>A (p.Asn544Lys)
12	g.76346354T>A	CA385810731	BBS10	c.1631A>T (p.Asn544Ile)
12	g.76346354T>C	CA179766	BBS10	c.1631A>G (p.Asn544Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346354T>G	CA385810728	BBS10	c.1631A>C (p.Asn544Thr)
12	g.76346354T=	CA2047353267	BBS10	c.1631A= (p.Asn544=)
12	g.76346355T>A	CA385810733	BBS10	c.1630A>T (p.Asn544Tyr)
12	g.76346355T>C	CA385810735	BBS10	c.1630A>G (p.Asn544Asp)	dbSNP gnomAD v2 gnomAD v4
12	g.76346355T>G	CA385810737	BBS10	c.1630A>C (p.Asn544His)
12	g.76346355T=	CA2047353268	BBS10	c.1630A= (p.Asn544=)
12	g.76346356G>A	CA6694134	BBS10	c.1629C>T (p.Asn543=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346356G>C	CA385810740	BBS10	c.1629C>G (p.Asn543Lys)
12	g.76346356G=	CA2047353270	BBS10	c.1629C= (p.Asn543=)
12	g.76346356G>T	CA385810741	BBS10	c.1629C>A (p.Asn543Lys)
12	g.76346356_76346359delinsGTTC	CA2047353269	BBS10	c.1626_1629delinsGAAC (p.Lys542=)
12	g.76346357T>A	CA385810743	BBS10	c.1628A>T (p.Asn543Ile)
12	g.76346357T>C	CA385810745	BBS10	c.1628A>G (p.Asn543Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.76346357T>G	CA385810747	BBS10	c.1628A>C (p.Asn543Thr)
12	g.76346357T=	CA2047353271	BBS10	c.1628A= (p.Asn543=)
12	g.76346359_76346361del	CA691952990	BBS10	c.1626_1628del (p.Lys542del)	dbSNP
12	g.76346358T>A	CA385810749	BBS10	c.1627A>T (p.Asn543Tyr)
12	g.76346358T>C	CA385810750	BBS10	c.1627A>G (p.Asn543Asp)
12	g.76346358T>G	CA385810752	BBS10	c.1627A>C (p.Asn543His)
12	g.76346359C>A	CA385810754	BBS10	c.1626G>T (p.Lys542Asn)	gnomAD v4
12	g.76346359C>G	CA385810756	BBS10	c.1626G>C (p.Lys542Asn)
12	g.76346359C>T	CA481010606	BBS10	c.1626G>A (p.Lys542=)
12	g.76346360T>A	CA385810757	BBS10	c.1625A>T (p.Lys542Met)	dbSNP gnomAD v3 gnomAD v4
12	g.76346360T>C	CA385810759	BBS10	c.1625A>G (p.Lys542Arg)
12	g.76346360T>G	CA385810761	BBS10	c.1625A>C (p.Lys542Thr)
12	g.76346360T=	CA2047353272	BBS10	c.1625A= (p.Lys542=)
12	g.76346361T>A	CA385810763	BBS10	c.1624A>T (p.Lys542Ter)
12	g.76346361T>C	CA385810764	BBS10	c.1624A>G (p.Lys542Glu)
12	g.76346361T>G	CA385810766	BBS10	c.1624A>C (p.Lys542Gln)
12	g.76346361_76346362insAC	CA2695199112	BBS10	c.1623_1624insGT (p.Lys542ValfsTer15)	ClinVar
12	g.76346362G>A	CA481010631	BBS10	c.1623C>T (p.Leu541=)	ClinVar
12	g.76346362G>C	CA481010629	BBS10	c.1623C>G (p.Leu541=)	ClinVar dbSNP COSMIC
12	g.76346362G>T	CA481010626	BBS10	c.1623C>A (p.Leu541=)
12	g.76346363A=	CA2047353273	BBS10	c.1622T= (p.Leu541=)
12	g.76346363A>C	CA385810770	BBS10	c.1622T>G (p.Leu541Arg)
12	g.76346363A>G	CA6694135	BBS10	c.1622T>C (p.Leu541Pro)	dbSNP ExAC gnomAD v2
12	g.76346363A>T	CA385810769	BBS10	c.1622T>A (p.Leu541His)
12	g.76346364G>A	CA385810772	BBS10	c.1621C>T (p.Leu541Phe)
12	g.76346364G>C	CA385810773	BBS10	c.1621C>G (p.Leu541Val)
12	g.76346364G>T	CA385810774	BBS10	c.1621C>A (p.Leu541Ile)
12	g.76346365T>A	CA385810775	BBS10	c.1620A>T (p.Leu540Phe)
12	g.76346365T>C	CA481010646	BBS10	c.1620A>G (p.Leu540=)	ClinVar dbSNP
12	g.76346365T>G	CA385810776	BBS10	c.1620A>C (p.Leu540Phe)
12	g.76346365T=	CA2047353274	BBS10	c.1620A= (p.Leu540=)
12	g.76346366A>C	CA385810778	BBS10	c.1619T>G (p.Leu540Ter)	ClinVar
12	g.76346366A>G	CA385810781	BBS10	c.1619T>C (p.Leu540Ser)
12	g.76346366A>T	CA385810780	BBS10	c.1619T>A (p.Leu540Ter)
12	g.76346367A=	CA2047353275	BBS10	c.1618T= (p.Leu540=)
12	g.76346367A>C	CA385810782	BBS10	c.1618T>G (p.Leu540Val)
12	g.76346367A>G	CA481010667	BBS10	c.1618T>C (p.Leu540=)	ClinVar dbSNP
12	g.76346367A>T	CA385810783	BBS10	c.1618T>A (p.Leu540Ile)	gnomAD v4
12	g.76346368T>A	CA481010670	BBS10	c.1617A>T (p.Pro539=)
12	g.76346368T>C	CA6694136	BBS10	c.1617A>G (p.Pro539=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.76346368T>G	CA481010671	BBS10	c.1617A>C (p.Pro539=)
12	g.76346368T=	CA2047353276	BBS10	c.1617A= (p.Pro539=)
12	g.76346369G>A	CA179768	BBS10	c.1616C>T (p.Pro539Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346369G>C	CA385810784	BBS10	c.1616C>G (p.Pro539Arg)
12	g.76346369G=	CA2047353277	BBS10	c.1616C= (p.Pro539=)
12	g.76346369G>T	CA385810785	BBS10	c.1616C>A (p.Pro539Gln)
12	g.76346370G>A	CA385810786	BBS10	c.1615C>T (p.Pro539Ser)	COSMIC
12	g.76346370G>C	CA385810788	BBS10	c.1615C>G (p.Pro539Ala)
12	g.76346370G>T	CA385810789	BBS10	c.1615C>A (p.Pro539Thr)
12	g.76346371T>A	CA385810791	BBS10	c.1614A>T (p.Glu538Asp)
12	g.76346371T>C	CA481010683	BBS10	c.1614A>G (p.Glu538=)
12	g.76346371T>G	CA385810792	BBS10	c.1614A>C (p.Glu538Asp)
12	g.76346372T>A	CA385810794	BBS10	c.1613A>T (p.Glu538Val)
12	g.76346372T>C	CA385810795	BBS10	c.1613A>G (p.Glu538Gly)
12	g.76346372T>G	CA385810793	BBS10	c.1613A>C (p.Glu538Ala)
12	g.76346373C>A	CA385810797	BBS10	c.1612G>T (p.Glu538Ter)
12	g.76346373C>G	CA385810796	BBS10	c.1612G>C (p.Glu538Gln)
12	g.76346373C>T	CA385810799	BBS10	c.1612G>A (p.Glu538Lys)
12	g.76346374A=	CA2047353278	BBS10	c.1611T= (p.Tyr537=)
12	g.76346374A>C	CA385810801	BBS10	c.1611T>G (p.Tyr537Ter)
12	g.76346374A>G	CA6694137	BBS10	c.1611T>C (p.Tyr537=)	dbSNP ExAC gnomAD v2
12	g.76346374A>T	CA385810803	BBS10	c.1611T>A (p.Tyr537Ter)
12	g.76346375T>A	CA385810804	BBS10	c.1610A>T (p.Tyr537Phe)
12	g.76346375T>C	CA385810805	BBS10	c.1610A>G (p.Tyr537Cys)
12	g.76346375T>G	CA385810806	BBS10	c.1610A>C (p.Tyr537Ser)	gnomAD v4
12	g.76346376A>C	CA385810809	BBS10	c.1609T>G (p.Tyr537Asp)
12	g.76346376A>G	CA385810807	BBS10	c.1609T>C (p.Tyr537His)
12	g.76346376A>T	CA385810808	BBS10	c.1609T>A (p.Tyr537Asn)
12	g.76346377A>C	CA385810810	BBS10	c.1608T>G (p.Tyr536Ter)
12	g.76346377A>G	CA481010703	BBS10	c.1608T>C (p.Tyr536=)	COSMIC
12	g.76346377A>T	CA385810811	BBS10	c.1608T>A (p.Tyr536Ter)
12	g.76346378T>A	CA385810812	BBS10	c.1607A>T (p.Tyr536Phe)
12	g.76346378T>C	CA6694138	BBS10	c.1607A>G (p.Tyr536Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346378T>G	CA385810813	BBS10	c.1607A>C (p.Tyr536Ser)
12	g.76346378T=	CA2047353280	BBS10	c.1607A= (p.Tyr536=)
12	g.76346378_76346382delinsTAATC	CA2047353279	BBS10	c.1603_1607delinsGATTA (p.Asp535=)
12	g.76346379A>C	CA385810814	BBS10	c.1606T>G (p.Tyr536Asp)	ClinVar gnomAD v4
12	g.76346379A>G	CA385810816	BBS10	c.1606T>C (p.Tyr536His)	ClinVar dbSNP
12	g.76346379A>T	CA385810815	BBS10	c.1606T>A (p.Tyr536Asn)	gnomAD v4
12	g.76346380del	CA2695199113	BBS10	c.1606del (p.Tyr536IlefsTer20)	ClinVar
12	g.76346380_76346383del	CA1139662787	BBS10	c.1603_1606del (p.Asp535IlefsTer20)	ClinVar dbSNP
12	g.76346380A=	CA2047353281	BBS10	c.1605T= (p.Asp535=)
12	g.76346380A>C	CA385810817	BBS10	c.1605T>G (p.Asp535Glu)
12	g.76346380A>G	CA481010714	BBS10	c.1605T>C (p.Asp535=)	dbSNP
12	g.76346380A>T	CA385810818	BBS10	c.1605T>A (p.Asp535Glu)
12	g.76346381T>A	CA385810819	BBS10	c.1604A>T (p.Asp535Val)	ClinVar dbSNP
12	g.76346381T>C	CA385810820	BBS10	c.1604A>G (p.Asp535Gly)
12	g.76346381T>G	CA385810821	BBS10	c.1604A>C (p.Asp535Ala)	dbSNP
12	g.76346381T=	CA2047353282	BBS10	c.1604A= (p.Asp535=)
12	g.76346382C>A	CA385810822	BBS10	c.1603G>T (p.Asp535Tyr)
12	g.76346382C=	CA2047353283	BBS10	c.1603G= (p.Asp535=)
12	g.76346382C>G	CA385810823	BBS10	c.1603G>C (p.Asp535His)
12	g.76346382C>T	CA6694139	BBS10	c.1603G>A (p.Asp535Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346382_76346383del	CA2575230726	BBS10	c.1602_1603del (p.Asp535LeufsTer3)
12	g.76346382_76346386delinsCAGTT	CA2047353284	BBS10	c.1599_1603delinsAACTG (p.Leu533=)
12	g.76346383A=	CA2047353285	BBS10	c.1602T= (p.Thr534=)
12	g.76346383A>C	CA6694140	BBS10	c.1602T>G (p.Thr534=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346383A>G	CA481010730	BBS10	c.1602T>C (p.Thr534=)	dbSNP gnomAD v2
12	g.76346383A>T	CA481010732	BBS10	c.1602T>A (p.Thr534=)
12	g.76346385_76346388del	CA274224	BBS10	c.1599_1602del (p.Thr534IlefsTer21)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346384G>A	CA385810826	BBS10	c.1601C>T (p.Thr534Ile)	dbSNP gnomAD v3 gnomAD v4
12	g.76346384G>C	CA385810825	BBS10	c.1601C>G (p.Thr534Ser)
12	g.76346384G=	CA2047353286	BBS10	c.1601C= (p.Thr534=)
12	g.76346384G>T	CA385810824	BBS10	c.1601C>A (p.Thr534Asn)
12	g.76346385T>A	CA385810827	BBS10	c.1600A>T (p.Thr534Ser)	gnomAD v4
12	g.76346385T>C	CA385810828	BBS10	c.1600A>G (p.Thr534Ala)
12	g.76346385T>G	CA385810829	BBS10	c.1600A>C (p.Thr534Pro)
12	g.76346386T>A	CA481010740	BBS10	c.1599A>T (p.Leu533=)
12	g.76346386T>C	CA481010742	BBS10	c.1599A>G (p.Leu533=)	ClinVar
12	g.76346386T>G	CA481010746	BBS10	c.1599A>C (p.Leu533=)
12	g.76346387A=	CA2047353287	BBS10	c.1598T= (p.Leu533=)
12	g.76346387A>C	CA385810830	BBS10	c.1598T>G (p.Leu533Arg)
12	g.76346387A>G	CA385810831	BBS10	c.1598T>C (p.Leu533Pro)
12	g.76346387A>T	CA385810832	BBS10	c.1598T>A (p.Leu533Gln)	dbSNP gnomAD v4
12	g.76346388G>A	CA481010750	BBS10	c.1597C>T (p.Leu533=)	dbSNP
12	g.76346388G>C	CA385810833	BBS10	c.1597C>G (p.Leu533Val)
12	g.76346388G=	CA2047353288	BBS10	c.1597C= (p.Leu533=)
12	g.76346388G>T	CA385810834	BBS10	c.1597C>A (p.Leu533Ile)
12	g.76346389C>A	CA385810835	BBS10	c.1596G>T (p.Arg532Ser)
12	g.76346389C=	CA2047353289	BBS10	c.1596G= (p.Arg532=)
12	g.76346389C>G	CA385810836	BBS10	c.1596G>C (p.Arg532Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346389C>T	CA481010751	BBS10	c.1596G>A (p.Arg532=)
12	g.76346390C>A	CA385810837	BBS10	c.1595G>T (p.Arg532Met)
12	g.76346390C=	CA2047353290	BBS10	c.1595G= (p.Arg532=)
12	g.76346390C>G	CA385810838	BBS10	c.1595G>C (p.Arg532Thr)
12	g.76346390C>T	CA6694141	BBS10	c.1595G>A (p.Arg532Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346391T>A	CA385810840	BBS10	c.1594A>T (p.Arg532Trp)	gnomAD v4
12	g.76346391T>C	CA385810839	BBS10	c.1594A>G (p.Arg532Gly)	dbSNP gnomAD v3 gnomAD v4
12	g.76346391T>G	CA481010754	BBS10	c.1594A>C (p.Arg532=)
12	g.76346391T=	CA2047353291	BBS10	c.1594A= (p.Arg532=)
12	g.76346392G>A	CA6694142	BBS10	c.1593C>T (p.Asn531=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346392G>C	CA385810841	BBS10	c.1593C>G (p.Asn531Lys)	gnomAD v4
12	g.76346392G=	CA2047353292	BBS10	c.1593C= (p.Asn531=)
12	g.76346392G>T	CA385810842	BBS10	c.1593C>A (p.Asn531Lys)
12	g.76346393T>A	CA385810843	BBS10	c.1592A>T (p.Asn531Ile)
12	g.76346393T>C	CA385810844	BBS10	c.1592A>G (p.Asn531Ser)	ClinVar dbSNP COSMIC
12	g.76346393T>G	CA385810845	BBS10	c.1592A>C (p.Asn531Thr)
12	g.76346394T>A	CA385810846	BBS10	c.1591A>T (p.Asn531Tyr)
12	g.76346394T>C	CA385810847	BBS10	c.1591A>G (p.Asn531Asp)
12	g.76346394T>G	CA385810848	BBS10	c.1591A>C (p.Asn531His)
12	g.76346395T>A	CA385810849	BBS10	c.1590A>T (p.Arg530Ser)
12	g.76346395T>C	CA481010759	BBS10	c.1590A>G (p.Arg530=)	dbSNP
12	g.76346395T>G	CA6694143	BBS10	c.1590A>C (p.Arg530Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346395T=	CA2047353293	BBS10	c.1590A= (p.Arg530=)
12	g.76346396C>A	CA385810850	BBS10	c.1589G>T (p.Arg530Ile)
12	g.76346396C=	CA2047353294	BBS10	c.1589G= (p.Arg530=)
12	g.76346396C>G	CA385810851	BBS10	c.1589G>C (p.Arg530Thr)
12	g.76346396C>T	CA385810852	BBS10	c.1589G>A (p.Arg530Lys)	ClinVar dbSNP
12	g.76346397T>A	CA385810853	BBS10	c.1588A>T (p.Arg530Ter)
12	g.76346397T>C	CA385810854	BBS10	c.1588A>G (p.Arg530Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.76346397T>G	CA481010765	BBS10	c.1588A>C (p.Arg530=)
12	g.76346397T=	CA2047353295	BBS10	c.1588A= (p.Arg530=)
12	g.76346398T>A	CA385810855	BBS10	c.1587A>T (p.Glu529Asp)
12	g.76346398T>C	CA481010768	BBS10	c.1587A>G (p.Glu529=)	gnomAD v4
12	g.76346398T>G	CA385810856	BBS10	c.1587A>C (p.Glu529Asp)
12	g.76346399T>A	CA385810857	BBS10	c.1586A>T (p.Glu529Val)
12	g.76346399T>C	CA385810858	BBS10	c.1586A>G (p.Glu529Gly)
12	g.76346399T>G	CA385810859	BBS10	c.1586A>C (p.Glu529Ala)
12	g.76346400C>A	CA385810860	BBS10	c.1585G>T (p.Glu529Ter)
12	g.76346400C>G	CA385810861	BBS10	c.1585G>C (p.Glu529Gln)
12	g.76346400C>T	CA385810862	BBS10	c.1585G>A (p.Glu529Lys)
12	g.76346401C>A	CA385810863	BBS10	c.1584G>T (p.Leu528Phe)
12	g.76346401C=	CA2047353296	BBS10	c.1584G= (p.Leu528=)
12	g.76346401C>G	CA385810864	BBS10	c.1584G>C (p.Leu528Phe)
12	g.76346401C>T	CA481010777	BBS10	c.1584G>A (p.Leu528=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346402A>C	CA385810865	BBS10	c.1583T>G (p.Leu528Trp)
12	g.76346402A>G	CA385810866	BBS10	c.1583T>C (p.Leu528Ser)
12	g.76346402A>T	CA385810867	BBS10	c.1583T>A (p.Leu528Ter)
12	g.76346403A>C	CA385810868	BBS10	c.1582T>G (p.Leu528Val)
12	g.76346403A>G	CA481010784	BBS10	c.1582T>C (p.Leu528=)	ClinVar gnomAD v4
12	g.76346403A>T	CA385810869	BBS10	c.1582T>A (p.Leu528Met)
12	g.76346404A>C	CA481010786	BBS10	c.1581T>G (p.Ser527=)
12	g.76346404A>G	CA481010787	BBS10	c.1581T>C (p.Ser527=)
12	g.76346404A>T	CA481010788	BBS10	c.1581T>A (p.Ser527=)
12	g.76346405G>A	CA385810872	BBS10	c.1580C>T (p.Ser527Phe)	dbSNP gnomAD v4
12	g.76346405G>C	CA385810870	BBS10	c.1580C>G (p.Ser527Cys)
12	g.76346405G=	CA2047353297	BBS10	c.1580C= (p.Ser527=)
12	g.76346405G>T	CA385810871	BBS10	c.1580C>A (p.Ser527Tyr)
12	g.76346406A=	CA2047353298	BBS10	c.1579T= (p.Ser527=)
12	g.76346406A>C	CA385810873	BBS10	c.1579T>G (p.Ser527Ala)
12	g.76346406A>G	CA6694144	BBS10	c.1579T>C (p.Ser527Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346406A>T	CA385810874	BBS10	c.1579T>A (p.Ser527Thr)
12	g.76346407C>A	CA385810875	BBS10	c.1578G>T (p.Leu526Phe)
12	g.76346407C>G	CA385810876	BBS10	c.1578G>C (p.Leu526Phe)
12	g.76346407C>T	CA481010794	BBS10	c.1578G>A (p.Leu526=)
12	g.76346408A>C	CA385810877	BBS10	c.1577T>G (p.Leu526Trp)
12	g.76346408A>G	CA385810878	BBS10	c.1577T>C (p.Leu526Ser)
12	g.76346408A>T	CA385810879	BBS10	c.1577T>A (p.Leu526Ter)
12	g.76346409A>C	CA385810880	BBS10	c.1576T>G (p.Leu526Val)
12	g.76346409A>G	CA481010796	BBS10	c.1576T>C (p.Leu526=)
12	g.76346409A>T	CA385810881	BBS10	c.1576T>A (p.Leu526Met)
12	g.76346410A=	CA2047353299	BBS10	c.1575T= (p.Cys525=)
12	g.76346410A>C	CA385810882	BBS10	c.1575T>G (p.Cys525Trp)
12	g.76346410A>G	CA481010798	BBS10	c.1575T>C (p.Cys525=)	dbSNP
12	g.76346410A>T	CA385810883	BBS10	c.1575T>A (p.Cys525Ter)	COSMIC
12	g.76346411C>A	CA385810886	BBS10	c.1574G>T (p.Cys525Phe)
12	g.76346411C>G	CA385810885	BBS10	c.1574G>C (p.Cys525Ser)
12	g.76346411C>T	CA385810884	BBS10	c.1574G>A (p.Cys525Tyr)
12	g.76346412A=	CA2047353300	BBS10	c.1573T= (p.Cys525=)
12	g.76346412A>C	CA385810887	BBS10	c.1573T>G (p.Cys525Gly)
12	g.76346412A>G	CA385810888	BBS10	c.1573T>C (p.Cys525Arg)	dbSNP gnomAD v3 gnomAD v4
12	g.76346412A>T	CA385810889	BBS10	c.1573T>A (p.Cys525Ser)
12	g.76346413T>A	CA481010806	BBS10	c.1572A>T (p.Thr524=)	ClinVar gnomAD v4
12	g.76346413T>C	CA481010807	BBS10	c.1572A>G (p.Thr524=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346413T>G	CA481010808	BBS10	c.1572A>C (p.Thr524=)	ClinVar dbSNP
12	g.76346413T=	CA2047353301	BBS10	c.1572A= (p.Thr524=)
12	g.76346414G>A	CA385810890	BBS10	c.1571C>T (p.Thr524Ile)	dbSNP
12	g.76346414G>C	CA385810891	BBS10	c.1571C>G (p.Thr524Arg)
12	g.76346414G=	CA2047353302	BBS10	c.1571C= (p.Thr524=)
12	g.76346414G>T	CA385810892	BBS10	c.1571C>A (p.Thr524Lys)
12	g.76346415T>A	CA385810895	BBS10	c.1570A>T (p.Thr524Ser)
12	g.76346415T>C	CA385810893	BBS10	c.1570A>G (p.Thr524Ala)
12	g.76346415T>G	CA385810894	BBS10	c.1570A>C (p.Thr524Pro)
12	g.76346416C>A	CA481010817	BBS10	c.1569G>T (p.Leu523=)
12	g.76346416C>G	CA481010819	BBS10	c.1569G>C (p.Leu523=)
12	g.76346416C>T	CA481010818	BBS10	c.1569G>A (p.Leu523=)
12	g.76346416_76346419dup	CA2695217032	BBS10	c.1566_1569dup (p.Thr524AlafsTer13)
12	g.76346417A=	CA2047353303	BBS10	c.1568T= (p.Leu523=)
12	g.76346417A>C	CA385810896	BBS10	c.1568T>G (p.Leu523Arg)
12	g.76346417A>G	CA239331700	BBS10	c.1568T>C (p.Leu523Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346417A>T	CA385810897	BBS10	c.1568T>A (p.Leu523Gln)
12	g.76346418G>A	CA481010822	BBS10	c.1567C>T (p.Leu523=)	COSMIC
12	g.76346418G>C	CA385810898	BBS10	c.1567C>G (p.Leu523Val)
12	g.76346418G=	CA2047353304	BBS10	c.1567C= (p.Leu523=)
12	g.76346418G>T	CA10638603	BBS10	c.1567C>A (p.Leu523Met)	ClinVar dbSNP
12	g.76346419C>A	CA481010826	BBS10	c.1566G>T (p.Thr522=)	ClinVar dbSNP gnomAD v4
12	g.76346419C=	CA2047353305	BBS10	c.1566G= (p.Thr522=)
12	g.76346419C>G	CA481010828	BBS10	c.1566G>C (p.Thr522=)	gnomAD v4
12	g.76346419C>T	CA481010830	BBS10	c.1566G>A (p.Thr522=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346420G>A	CA6694145	BBS10	c.1565C>T (p.Thr522Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346420G>C	CA385810900	BBS10	c.1565C>G (p.Thr522Arg)
12	g.76346420G=	CA2047353306	BBS10	c.1565C= (p.Thr522=)
12	g.76346420G>T	CA385810899	BBS10	c.1565C>A (p.Thr522Lys)
12	g.76346421T>A	CA385810901	BBS10	c.1564A>T (p.Thr522Ser)
12	g.76346421T>C	CA385810902	BBS10	c.1564A>G (p.Thr522Ala)
12	g.76346421T>G	CA385810903	BBS10	c.1564A>C (p.Thr522Pro)
12	g.76346423_76346432del	CA2580617506	BBS10	c.1555_1564del (p.Thr519ArgfsTer2)	ClinVar
12	g.76346422T>A	CA385810904	BBS10	c.1563A>T (p.Glu521Asp)
12	g.76346422T>C	CA481010839	BBS10	c.1563A>G (p.Glu521=)
12	g.76346422T>G	CA6694146	BBS10	c.1563A>C (p.Glu521Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346422T=	CA2047353307	BBS10	c.1563A= (p.Glu521=)
12	g.76346423T>A	CA385810905	BBS10	c.1562A>T (p.Glu521Val)	gnomAD v4
12	g.76346423T>C	CA385810906	BBS10	c.1562A>G (p.Glu521Gly)
12	g.76346423T>G	CA385810907	BBS10	c.1562A>C (p.Glu521Ala)
12	g.76346424C>A	CA385810908	BBS10	c.1561G>T (p.Glu521Ter)
12	g.76346424C>G	CA385810909	BBS10	c.1561G>C (p.Glu521Gln)
12	g.76346424C>T	CA385810910	BBS10	c.1561G>A (p.Glu521Lys)
12	g.76346425A>C	CA481010848	BBS10	c.1560T>G (p.Val520=)
12	g.76346425A>G	CA481010847	BBS10	c.1560T>C (p.Val520=)	gnomAD v4
12	g.76346425A>T	CA481010846	BBS10	c.1560T>A (p.Val520=)
12	g.76346426A=	CA2047353308	BBS10	c.1559T= (p.Val520=)
12	g.76346426A>C	CA6694147	BBS10	c.1559T>G (p.Val520Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346426A>G	CA385810912	BBS10	c.1559T>C (p.Val520Ala)	gnomAD v4
12	g.76346426A>T	CA385810911	BBS10	c.1559T>A (p.Val520Asp)
12	g.76346427C>A	CA385810913	BBS10	c.1558G>T (p.Val520Phe)
12	g.76346427C>G	CA385810915	BBS10	c.1558G>C (p.Val520Leu)
12	g.76346427C>T	CA385810914	BBS10	c.1558G>A (p.Val520Ile)
12	g.76346427_76346431delinsCTGTT	CA2047353309	BBS10	c.1554_1558delinsAACAG (p.Gln518=)
12	g.76346428T>A	CA481010852	BBS10	c.1557A>T (p.Thr519=)
12	g.76346428T>C	CA481010854	BBS10	c.1557A>G (p.Thr519=)	ClinVar dbSNP
12	g.76346428T>G	CA481010856	BBS10	c.1557A>C (p.Thr519=)
12	g.76346429_76346430del	CA2573148988	BBS10	c.1556_1557del (p.Thr519SerfsTer2)	ClinVar dbSNP
12	g.76346430_76346433del	CA2047353310	BBS10	c.1554_1557del (p.Thr519LeufsTer4)	ClinVar dbSNP
12	g.76346429G>A	CA385810916	BBS10	c.1556C>T (p.Thr519Ile)
12	g.76346429G>C	CA385810918	BBS10	c.1556C>G (p.Thr519Arg)	gnomAD v4
12	g.76346429G>T	CA385810917	BBS10	c.1556C>A (p.Thr519Lys)
12	g.76346430T>A	CA385810919	BBS10	c.1555A>T (p.Thr519Ser)
12	g.76346430T>C	CA385810920	BBS10	c.1555A>G (p.Thr519Ala)
12	g.76346430T>G	CA385810921	BBS10	c.1555A>C (p.Thr519Pro)
12	g.76346431T>A	CA385810922	BBS10	c.1554A>T (p.Gln518His)
12	g.76346431T>C	CA6694148	BBS10	c.1554A>G (p.Gln518=)	dbSNP ExAC gnomAD v2
12	g.76346431T>G	CA385810923	BBS10	c.1554A>C (p.Gln518His)
12	g.76346431T=	CA2047353311	BBS10	c.1554A= (p.Gln518=)
12	g.76346432T>A	CA385810925	BBS10	c.1553A>T (p.Gln518Leu)
12	g.76346432T>C	CA6694149	BBS10	c.1553A>G (p.Gln518Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346432T>G	CA385810924	BBS10	c.1553A>C (p.Gln518Pro)
12	g.76346432T=	CA2047353312	BBS10	c.1553A= (p.Gln518=)
12	g.76346433G>A	CA385810926	BBS10	c.1552C>T (p.Gln518Ter)	ClinVar dbSNP
12	g.76346433G>C	CA385810927	BBS10	c.1552C>G (p.Gln518Glu)
12	g.76346433G=	CA2047353313	BBS10	c.1552C= (p.Gln518=)
12	g.76346433G>T	CA385810928	BBS10	c.1552C>A (p.Gln518Lys)
12	g.76346434G>A	CA481010864	BBS10	c.1551C>T (p.Phe517=)	gnomAD v4
12	g.76346434G>C	CA385810929	BBS10	c.1551C>G (p.Phe517Leu)	gnomAD v4
12	g.76346434G>T	CA385810930	BBS10	c.1551C>A (p.Phe517Leu)
12	g.76346435A>C	CA385810931	BBS10	c.1550T>G (p.Phe517Cys)
12	g.76346435A>G	CA385810933	BBS10	c.1550T>C (p.Phe517Ser)	gnomAD v4
12	g.76346435A>T	CA385810932	BBS10	c.1550T>A (p.Phe517Tyr)
12	g.76346436A>C	CA385810934	BBS10	c.1549T>G (p.Phe517Val)
12	g.76346436A>G	CA385810935	BBS10	c.1549T>C (p.Phe517Leu)
12	g.76346436A>T	CA385810936	BBS10	c.1549T>A (p.Phe517Ile)
12	g.76346437T>A	CA6694150	BBS10	c.1548A>T (p.Thr516=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346437T>C	CA481010869	BBS10	c.1548A>G (p.Thr516=)
12	g.76346437T>G	CA481010871	BBS10	c.1548A>C (p.Thr516=)	ClinVar gnomAD v4
12	g.76346437T=	CA2047353314	BBS10	c.1548A= (p.Thr516=)
12	g.76346437_76346438delinsTG	CA2047353315	BBS10	c.1547_1548delinsCA (p.Thr516=)
12	g.76346438del	CA356962	BBS10	c.1547del (p.Thr516AsnfsTer8)	ClinVar dbSNP
12	g.76346438G>A	CA385810937	BBS10	c.1547C>T (p.Thr516Ile)
12	g.76346438G>C	CA385810938	BBS10	c.1547C>G (p.Thr516Arg)	dbSNP
12	g.76346438G>T	CA385810939	BBS10	c.1547C>A (p.Thr516Lys)	gnomAD v4
12	g.76346439T>A	CA385810940	BBS10	c.1546A>T (p.Thr516Ser)
12	g.76346439T>C	CA385810941	BBS10	c.1546A>G (p.Thr516Ala)
12	g.76346439T>G	CA385810942	BBS10	c.1546A>C (p.Thr516Pro)
12	g.76346440_76346443dup	CA2619945600	BBS10	c.1543_1546dup (p.Thr516ArgfsTer7)	gnomAD v4
12	g.76346440A=	CA2047353316	BBS10	c.1545T= (p.Asp515=)
12	g.76346440A>C	CA385810944	BBS10	c.1545T>G (p.Asp515Glu)
12	g.76346440A>G	CA6694151	BBS10	c.1545T>C (p.Asp515=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346440A>T	CA385810943	BBS10	c.1545T>A (p.Asp515Glu)
12	g.76346441T>A	CA385810945	BBS10	c.1544A>T (p.Asp515Val)
12	g.76346441T>C	CA385810946	BBS10	c.1544A>G (p.Asp515Gly)	gnomAD v4
12	g.76346441T>G	CA385810947	BBS10	c.1544A>C (p.Asp515Ala)
12	g.76346442C>A	CA385810948	BBS10	c.1543G>T (p.Asp515Tyr)
12	g.76346442C>G	CA385810949	BBS10	c.1543G>C (p.Asp515His)	gnomAD v4
12	g.76346442C>T	CA385810950	BBS10	c.1543G>A (p.Asp515Asn)
12	g.76346442_76346443delinsCT	CA2047353317	BBS10	c.1542_1543delinsAG (p.Thr514=)
12	g.76346443del	CA16041579	BBS10	c.1542del (p.Asp515IlefsTer9)	ClinVar dbSNP
12	g.76346443T>A	CA481010881	BBS10	c.1542A>T (p.Thr514=)
12	g.76346443T>C	CA481010882	BBS10	c.1542A>G (p.Thr514=)
12	g.76346443T>G	CA481010883	BBS10	c.1542A>C (p.Thr514=)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.76346443T=	CA2047353318	BBS10	c.1542A= (p.Thr514=)
12	g.76346444G>A	CA6694152	BBS10	c.1541C>T (p.Thr514Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346444G>C	CA385810951	BBS10	c.1541C>G (p.Thr514Arg)
12	g.76346444G=	CA2047353319	BBS10	c.1541C= (p.Thr514=)
12	g.76346444G>T	CA385810952	BBS10	c.1541C>A (p.Thr514Lys)
12	g.76346445T>A	CA385810953	BBS10	c.1540A>T (p.Thr514Ser)
12	g.76346445T>C	CA6694153	BBS10	c.1540A>G (p.Thr514Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346445T>G	CA385810954	BBS10	c.1540A>C (p.Thr514Pro)
12	g.76346445T=	CA2047353320	BBS10	c.1540A= (p.Thr514=)
12	g.76346446dup	CA912974183	BBS10	c.1540dup (p.Thr514AsnfsTer8)

Number of alleles fetched