Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76346177C>A	CA385809853	BBS10	c.1808G>T (p.Gly603Val)
12	g.76346177C>G	CA385809854	BBS10	c.1808G>C (p.Gly603Ala)
12	g.76346177C>T	CA385809857	BBS10	c.1808G>A (p.Gly603Asp)
12	g.76346178C>A	CA6694101	BBS10	c.1807G>T (p.Gly603Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346178C=	CA2047353194	BBS10	c.1807G= (p.Gly603=)
12	g.76346178C>G	CA385809861	BBS10	c.1807G>C (p.Gly603Arg)	dbSNP
12	g.76346178C>T	CA385809862	BBS10	c.1807G>A (p.Gly603Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.76346179T>A	CA481010910	BBS10	c.1806A>T (p.Val602=)
12	g.76346179T>C	CA481010912	BBS10	c.1806A>G (p.Val602=)	ClinVar dbSNP gnomAD v4
12	g.76346179T>G	CA481010913	BBS10	c.1806A>C (p.Val602=)
12	g.76346179T=	CA2047353195	BBS10	c.1806A= (p.Val602=)
12	g.76346180A>C	CA385809866	BBS10	c.1805T>G (p.Val602Gly)
12	g.76346180A>G	CA385809863	BBS10	c.1805T>C (p.Val602Ala)
12	g.76346180A>T	CA385809864	BBS10	c.1805T>A (p.Val602Glu)
12	g.76346181C>A	CA385809868	BBS10	c.1804G>T (p.Val602Leu)	ClinVar dbSNP
12	g.76346181C=	CA2047353196	BBS10	c.1804G= (p.Val602=)
12	g.76346181C>G	CA6694102	BBS10	c.1804G>C (p.Val602Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346181C>T	CA385809870	BBS10	c.1804G>A (p.Val602Ile)	gnomAD v4
12	g.76346181dup	CA2796591353	BBS10	c.1804dup (p.Val602GlyfsTer4)
12	g.76346182T>A	CA481010921	BBS10	c.1803A>T (p.Pro601=)
12	g.76346182T>C	CA481010922	BBS10	c.1803A>G (p.Pro601=)	COSMIC
12	g.76346182T>G	CA481010923	BBS10	c.1803A>C (p.Pro601=)
12	g.76346183G>A	CA385809872	BBS10	c.1802C>T (p.Pro601Leu)	ClinVar gnomAD v4
12	g.76346183G>C	CA385809874	BBS10	c.1802C>G (p.Pro601Arg)
12	g.76346183G>T	CA385809876	BBS10	c.1802C>A (p.Pro601Gln)
12	g.76346184G>A	CA385809877	BBS10	c.1801C>T (p.Pro601Ser)
12	g.76346184G>C	CA385809878	BBS10	c.1801C>G (p.Pro601Ala)
12	g.76346184G>T	CA385809879	BBS10	c.1801C>A (p.Pro601Thr)
12	g.76346185C>A	CA385809882	BBS10	c.1800G>T (p.Leu600Phe)
12	g.76346185C>G	CA385809883	BBS10	c.1800G>C (p.Leu600Phe)
12	g.76346185C>T	CA481010926	BBS10	c.1800G>A (p.Leu600=)	gnomAD v4
12	g.76346186A>C	CA385809887	BBS10	c.1799T>G (p.Leu600Trp)
12	g.76346186A>G	CA385809886	BBS10	c.1799T>C (p.Leu600Ser)	ClinVar gnomAD v4
12	g.76346186A>T	CA385809885	BBS10	c.1799T>A (p.Leu600Ter)
12	g.76346187A=	CA2047353197	BBS10	c.1798T= (p.Leu600=)
12	g.76346187A>C	CA385809888	BBS10	c.1798T>G (p.Leu600Val)
12	g.76346187A>G	CA481010930	BBS10	c.1798T>C (p.Leu600=)
12	g.76346187A>T	CA6694103	BBS10	c.1798T>A (p.Leu600Met)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346188A>C	CA481010932	BBS10	c.1797T>G (p.Val599=)
12	g.76346188A>G	CA481010933	BBS10	c.1797T>C (p.Val599=)
12	g.76346188A>T	CA481010937	BBS10	c.1797T>A (p.Val599=)
12	g.76346189A=	CA2047353198	BBS10	c.1796T= (p.Val599=)
12	g.76346189A>C	CA6694104	BBS10	c.1796T>G (p.Val599Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346189A>G	CA385809889	BBS10	c.1796T>C (p.Val599Ala)
12	g.76346189A>T	CA385809890	BBS10	c.1796T>A (p.Val599Asp)
12	g.76346192_76346193del	CA2580616817	BBS10	c.1795_1796del (p.Val599PhefsTer6)	ClinVar
12	g.76346190C>A	CA385809891	BBS10	c.1795G>T (p.Val599Phe)
12	g.76346190C=	CA2047353199	BBS10	c.1795G= (p.Val599=)
12	g.76346190C>G	CA385809892	BBS10	c.1795G>C (p.Val599Leu)
12	g.76346190C>T	CA239331622	BBS10	c.1795G>A (p.Val599Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346191A>C	CA385809893	BBS10	c.1794T>G (p.Cys598Trp)
12	g.76346191A>G	CA481010948	BBS10	c.1794T>C (p.Cys598=)
12	g.76346191A>T	CA385809894	BBS10	c.1794T>A (p.Cys598Ter)
12	g.76346192C>A	CA385809895	BBS10	c.1793G>T (p.Cys598Phe)
12	g.76346192C>G	CA385809896	BBS10	c.1793G>C (p.Cys598Ser)
12	g.76346192C>T	CA385809897	BBS10	c.1793G>A (p.Cys598Tyr)
12	g.76346193A>C	CA385809900	BBS10	c.1792T>G (p.Cys598Gly)
12	g.76346193A>G	CA385809899	BBS10	c.1792T>C (p.Cys598Arg)
12	g.76346193A>T	CA385809898	BBS10	c.1792T>A (p.Cys598Ser)
12	g.76346194A>C	CA481010963	BBS10	c.1791T>G (p.Gly597=)
12	g.76346194A>G	CA481010962	BBS10	c.1791T>C (p.Gly597=)
12	g.76346194A>T	CA481010960	BBS10	c.1791T>A (p.Gly597=)	gnomAD v4 COSMIC
12	g.76346195C>A	CA385809901	BBS10	c.1790G>T (p.Gly597Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346195C=	CA2047353200	BBS10	c.1790G= (p.Gly597=)
12	g.76346195C>G	CA385809902	BBS10	c.1790G>C (p.Gly597Ala)
12	g.76346195C>T	CA385809903	BBS10	c.1790G>A (p.Gly597Asp)	dbSNP gnomAD v4
12	g.76346196C>A	CA385809904	BBS10	c.1789G>T (p.Gly597Cys)
12	g.76346196C>G	CA385809905	BBS10	c.1789G>C (p.Gly597Arg)
12	g.76346196C>T	CA385809906	BBS10	c.1789G>A (p.Gly597Ser)
12	g.76346197A>C	CA481010971	BBS10	c.1788T>G (p.Ala596=)
12	g.76346197A>G	CA481010974	BBS10	c.1788T>C (p.Ala596=)
12	g.76346197A>T	CA481010975	BBS10	c.1788T>A (p.Ala596=)
12	g.76346198G>A	CA385809907	BBS10	c.1787C>T (p.Ala596Val)
12	g.76346198G>C	CA385809908	BBS10	c.1787C>G (p.Ala596Gly)
12	g.76346198G>T	CA385809909	BBS10	c.1787C>A (p.Ala596Asp)
12	g.76346199C>A	CA385809910	BBS10	c.1786G>T (p.Ala596Ser)
12	g.76346199C>G	CA385809911	BBS10	c.1786G>C (p.Ala596Pro)
12	g.76346199C>T	CA385809912	BBS10	c.1786G>A (p.Ala596Thr)
12	g.76346200T>A	CA481010982	BBS10	c.1785A>T (p.Pro595=)
12	g.76346200T>C	CA481010983	BBS10	c.1785A>G (p.Pro595=)	gnomAD v4
12	g.76346200T>G	CA481010984	BBS10	c.1785A>C (p.Pro595=)
12	g.76346201G>A	CA385809914	BBS10	c.1784C>T (p.Pro595Leu)
12	g.76346201G>C	CA385809915	BBS10	c.1784C>G (p.Pro595Arg)
12	g.76346201G>T	CA385809913	BBS10	c.1784C>A (p.Pro595Gln)
12	g.76346202G>A	CA385809916	BBS10	c.1783C>T (p.Pro595Ser)
12	g.76346202G>C	CA385809917	BBS10	c.1783C>G (p.Pro595Ala)
12	g.76346202G>T	CA385809918	BBS10	c.1783C>A (p.Pro595Thr)
12	g.76346203C>A	CA385809919	BBS10	c.1782G>T (p.Met594Ile)
12	g.76346203C=	CA2047353201	BBS10	c.1782G= (p.Met594=)
12	g.76346203C>G	CA385809920	BBS10	c.1782G>C (p.Met594Ile)
12	g.76346203C>T	CA6694105	BBS10	c.1782G>A (p.Met594Ile)	dbSNP ExAC gnomAD v2
12	g.76346204A>C	CA385809921	BBS10	c.1781T>G (p.Met594Arg)
12	g.76346204A>G	CA385809922	BBS10	c.1781T>C (p.Met594Thr)
12	g.76346204A>T	CA385809923	BBS10	c.1781T>A (p.Met594Lys)
12	g.76346205T>A	CA385809924	BBS10	c.1780A>T (p.Met594Leu)
12	g.76346205T>C	CA385809925	BBS10	c.1780A>G (p.Met594Val)	ClinVar dbSNP
12	g.76346205T>G	CA385809928	BBS10	c.1780A>C (p.Met594Leu)
12	g.76346205T=	CA2047353202	BBS10	c.1780A= (p.Met594=)
12	g.76346206A>C	CA481010994	BBS10	c.1779T>G (p.Ser593=)
12	g.76346206A>G	CA481010995	BBS10	c.1779T>C (p.Ser593=)
12	g.76346206A>T	CA481010996	BBS10	c.1779T>A (p.Ser593=)
12	g.76346207G>A	CA385809931	BBS10	c.1778C>T (p.Ser593Phe)	gnomAD v4
12	g.76346207G>C	CA385809933	BBS10	c.1778C>G (p.Ser593Cys)
12	g.76346207G>T	CA385809929	BBS10	c.1778C>A (p.Ser593Tyr)
12	g.76346208A=	CA2047353203	BBS10	c.1777T= (p.Ser593=)
12	g.76346208A>C	CA385809936	BBS10	c.1777T>G (p.Ser593Ala)
12	g.76346208A>G	CA385809939	BBS10	c.1777T>C (p.Ser593Pro)
12	g.76346208A>T	CA6694106	BBS10	c.1777T>A (p.Ser593Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346209T>A	CA481010998	BBS10	c.1776A>T (p.Ser592=)
12	g.76346209T>C	CA6694107	BBS10	c.1776A>G (p.Ser592=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346209T>G	CA481011001	BBS10	c.1776A>C (p.Ser592=)	dbSNP gnomAD v2 gnomAD v4
12	g.76346209T=	CA2047353204	BBS10	c.1776A= (p.Ser592=)
12	g.76346210G>A	CA385809956	BBS10	c.1775C>T (p.Ser592Leu)
12	g.76346210G>C	CA385809954	BBS10	c.1775C>G (p.Ser592Ter)
12	g.76346210G=	CA2047353205	BBS10	c.1775C= (p.Ser592=)
12	g.76346210G>T	CA385809951	BBS10	c.1775C>A (p.Ser592Ter)	dbSNP
12	g.76346211A>C	CA385809960	BBS10	c.1774T>G (p.Ser592Ala)	COSMIC
12	g.76346211A>G	CA385809963	BBS10	c.1774T>C (p.Ser592Pro)
12	g.76346211A>T	CA385809964	BBS10	c.1774T>A (p.Ser592Thr)
12	g.76346212G>A	CA481011005	BBS10	c.1773C>T (p.Ser591=)	dbSNP
12	g.76346212G>C	CA481011006	BBS10	c.1773C>G (p.Ser591=)	ClinVar
12	g.76346212G=	CA2047353206	BBS10	c.1773C= (p.Ser591=)
12	g.76346212G>T	CA481011007	BBS10	c.1773C>A (p.Ser591=)
12	g.76346213G>A	CA385809969	BBS10	c.1772C>T (p.Ser591Phe)
12	g.76346213G>C	CA385809972	BBS10	c.1772C>G (p.Ser591Cys)
12	g.76346213G>T	CA385809973	BBS10	c.1772C>A (p.Ser591Tyr)
12	g.76346214A>C	CA385809974	BBS10	c.1771T>G (p.Ser591Ala)
12	g.76346214A>G	CA385809976	BBS10	c.1771T>C (p.Ser591Pro)
12	g.76346214A>T	CA385809975	BBS10	c.1771T>A (p.Ser591Thr)
12	g.76346215A>C	CA481011009	BBS10	c.1770T>G (p.Leu590=)
12	g.76346215A>G	CA481011011	BBS10	c.1770T>C (p.Leu590=)
12	g.76346215A>T	CA481011010	BBS10	c.1770T>A (p.Leu590=)
12	g.76346216A=	CA2047353207	BBS10	c.1769T= (p.Leu590=)
12	g.76346216A>C	CA6694108	BBS10	c.1769T>G (p.Leu590Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346216A>G	CA385809982	BBS10	c.1769T>C (p.Leu590Pro)	gnomAD v4
12	g.76346216A>T	CA385809978	BBS10	c.1769T>A (p.Leu590His)
12	g.76346217G>A	CA385809987	BBS10	c.1768C>T (p.Leu590Phe)
12	g.76346217G>C	CA385809994	BBS10	c.1768C>G (p.Leu590Val)	gnomAD v4
12	g.76346217G>T	CA385809989	BBS10	c.1768C>A (p.Leu590Ile)
12	g.76346218G>A	CA481011019	BBS10	c.1767C>T (p.Tyr589=)	gnomAD v4
12	g.76346218G>C	CA385809997	BBS10	c.1767C>G (p.Tyr589Ter)	ClinVar gnomAD v4
12	g.76346218G=	CA2047353208	BBS10	c.1767C= (p.Tyr589=)
12	g.76346218G>T	CA385810000	BBS10	c.1767C>A (p.Tyr589Ter)	ClinVar dbSNP
12	g.76346219T>A	CA385810008	BBS10	c.1766A>T (p.Tyr589Phe)
12	g.76346219T>C	CA385810011	BBS10	c.1766A>G (p.Tyr589Cys)
12	g.76346219T>G	CA385810014	BBS10	c.1766A>C (p.Tyr589Ser)
12	g.76346219dup	CA2796591354	BBS10	c.1766dup (p.Tyr589Ter)
12	g.76346220A=	CA2047353209	BBS10	c.1765T= (p.Tyr589=)
12	g.76346220A>C	CA385810017	BBS10	c.1765T>G (p.Tyr589Asp)	dbSNP gnomAD v2 gnomAD v4
12	g.76346220A>G	CA385810019	BBS10	c.1765T>C (p.Tyr589His)
12	g.76346220A>T	CA385810022	BBS10	c.1765T>A (p.Tyr589Asn)
12	g.76346221A>C	CA385810028	BBS10	c.1764T>G (p.Ser588Arg)
12	g.76346221A>G	CA481011021	BBS10	c.1764T>C (p.Ser588=)
12	g.76346221A>T	CA385810030	BBS10	c.1764T>A (p.Ser588Arg)
12	g.76346222C>A	CA385810034	BBS10	c.1763G>T (p.Ser588Ile)
12	g.76346222C>G	CA385810038	BBS10	c.1763G>C (p.Ser588Thr)
12	g.76346222C>T	CA385810041	BBS10	c.1763G>A (p.Ser588Asn)
12	g.76346223T>A	CA385810050	BBS10	c.1762A>T (p.Ser588Cys)
12	g.76346223T>C	CA385810048	BBS10	c.1762A>G (p.Ser588Gly)	gnomAD v4
12	g.76346223T>G	CA385810045	BBS10	c.1762A>C (p.Ser588Arg)
12	g.76346224C>A	CA385810052	BBS10	c.1761G>T (p.Gln587His)
12	g.76346224C>G	CA385810055	BBS10	c.1761G>C (p.Gln587His)
12	g.76346224C>T	CA481011026	BBS10	c.1761G>A (p.Gln587=)
12	g.76346225T>A	CA385810058	BBS10	c.1760A>T (p.Gln587Leu)
12	g.76346225T>C	CA385810066	BBS10	c.1760A>G (p.Gln587Arg)	dbSNP
12	g.76346225T>G	CA385810071	BBS10	c.1760A>C (p.Gln587Pro)
12	g.76346225T=	CA2047353210	BBS10	c.1760A= (p.Gln587=)
12	g.76346226G>A	CA385810073	BBS10	c.1759C>T (p.Gln587Ter)
12	g.76346226G>C	CA385810076	BBS10	c.1759C>G (p.Gln587Glu)	dbSNP gnomAD v2 gnomAD v4
12	g.76346226G=	CA2047353211	BBS10	c.1759C= (p.Gln587=)
12	g.76346226G>T	CA385810080	BBS10	c.1759C>A (p.Gln587Lys)	COSMIC
12	g.76346228del	CA2619945591	BBS10	c.1759del (p.Gln587ArgfsTer16)	gnomAD v4
12	g.76346227G>A	CA6694109	BBS10	c.1758C>T (p.Ser586=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346227G>C	CA481011033	BBS10	c.1758C>G (p.Ser586=)	dbSNP gnomAD v2 gnomAD v4
12	g.76346227G=	CA2047353212	BBS10	c.1758C= (p.Ser586=)
12	g.76346227G>T	CA481011031	BBS10	c.1758C>A (p.Ser586=)
12	g.76346228G>A	CA385810088	BBS10	c.1757C>T (p.Ser586Phe)	dbSNP gnomAD v2
12	g.76346228G>C	CA385810090	BBS10	c.1757C>G (p.Ser586Cys)	dbSNP gnomAD v2 gnomAD v4
12	g.76346228G=	CA2047353213	BBS10	c.1757C= (p.Ser586=)
12	g.76346228G>T	CA385810094	BBS10	c.1757C>A (p.Ser586Tyr)
12	g.76346229A>C	CA385810104	BBS10	c.1756T>G (p.Ser586Ala)
12	g.76346229A>G	CA385810102	BBS10	c.1756T>C (p.Ser586Pro)
12	g.76346229A>T	CA385810099	BBS10	c.1756T>A (p.Ser586Thr)
12	g.76346230A>C	CA481011036	BBS10	c.1755T>G (p.Thr585=)	COSMIC
12	g.76346230A>G	CA481011038	BBS10	c.1755T>C (p.Thr585=)
12	g.76346230A>T	CA481011040	BBS10	c.1755T>A (p.Thr585=)
12	g.76346231G>A	CA385810108	BBS10	c.1754C>T (p.Thr585Ile)	gnomAD v4
12	g.76346231G>C	CA385810110	BBS10	c.1754C>G (p.Thr585Ser)	dbSNP
12	g.76346231G=	CA2047353214	BBS10	c.1754C= (p.Thr585=)
12	g.76346231G>T	CA385810112	BBS10	c.1754C>A (p.Thr585Asn)
12	g.76346232T>A	CA385810116	BBS10	c.1753A>T (p.Thr585Ser)
12	g.76346232T>C	CA385810117	BBS10	c.1753A>G (p.Thr585Ala)	dbSNP gnomAD v3 gnomAD v4
12	g.76346232T>G	CA385810128	BBS10	c.1753A>C (p.Thr585Pro)
12	g.76346232T=	CA2047353215	BBS10	c.1753A= (p.Thr585=)
12	g.76346233A=	CA2047353216	BBS10	c.1752T= (p.Gly584=)
12	g.76346233A>C	CA481011041	BBS10	c.1752T>G (p.Gly584=)
12	g.76346233A>G	CA481011042	BBS10	c.1752T>C (p.Gly584=)
12	g.76346233A>T	CA481011043	BBS10	c.1752T>A (p.Gly584=)	dbSNP
12	g.76346234C>A	CA385810131	BBS10	c.1751G>T (p.Gly584Val)
12	g.76346234C=	CA2047353217	BBS10	c.1751G= (p.Gly584=)
12	g.76346234C>G	CA385810133	BBS10	c.1751G>C (p.Gly584Ala)
12	g.76346234C>T	CA385810138	BBS10	c.1751G>A (p.Gly584Asp)	dbSNP gnomAD v2 gnomAD v4
12	g.76346235C>A	CA385810144	BBS10	c.1750G>T (p.Gly584Cys)
12	g.76346235C=	CA2047353218	BBS10	c.1750G= (p.Gly584=)
12	g.76346235C>G	CA385810146	BBS10	c.1750G>C (p.Gly584Arg)
12	g.76346235C>T	CA6694110	BBS10	c.1750G>A (p.Gly584Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346236C>A	CA385810154	BBS10	c.1749G>T (p.Met583Ile)
12	g.76346236C>G	CA385810151	BBS10	c.1749G>C (p.Met583Ile)
12	g.76346236C>T	CA385810153	BBS10	c.1749G>A (p.Met583Ile)
12	g.76346237A>C	CA385810156	BBS10	c.1748T>G (p.Met583Arg)
12	g.76346237A>G	CA385810161	BBS10	c.1748T>C (p.Met583Thr)
12	g.76346237A>T	CA385810168	BBS10	c.1748T>A (p.Met583Lys)
12	g.76346238T>A	CA385810172	BBS10	c.1747A>T (p.Met583Leu)
12	g.76346238T>C	CA385810180	BBS10	c.1747A>G (p.Met583Val)	ClinVar dbSNP gnomAD v4
12	g.76346238T>G	CA385810183	BBS10	c.1747A>C (p.Met583Leu)
12	g.76346239A>C	CA385810184	BBS10	c.1746T>G (p.Asn582Lys)
12	g.76346239A>G	CA481011050	BBS10	c.1746T>C (p.Asn582=)
12	g.76346239A>T	CA385810185	BBS10	c.1746T>A (p.Asn582Lys)
12	g.76346240T>A	CA385810186	BBS10	c.1745A>T (p.Asn582Ile)
12	g.76346240T>C	CA385810188	BBS10	c.1745A>G (p.Asn582Ser)
12	g.76346240T>G	CA385810191	BBS10	c.1745A>C (p.Asn582Thr)
12	g.76346241T>A	CA385810202	BBS10	c.1744A>T (p.Asn582Tyr)
12	g.76346241T>C	CA385810199	BBS10	c.1744A>G (p.Asn582Asp)
12	g.76346241T>G	CA385810197	BBS10	c.1744A>C (p.Asn582His)	gnomAD v4
12	g.76346241_76346242delinsTC	CA2047353219	BBS10	c.1743_1744delinsGA (p.Pro581=)
12	g.76346242del	CA6694111	BBS10	c.1743del (p.Asn582IlefsTer21)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346242C>A	CA481011058	BBS10	c.1743G>T (p.Pro581=)	gnomAD v4
12	g.76346242C=	CA2047353220	BBS10	c.1743G= (p.Pro581=)
12	g.76346242C>G	CA481011059	BBS10	c.1743G>C (p.Pro581=)	COSMIC
12	g.76346242C>T	CA6694112	BBS10	c.1743G>A (p.Pro581=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346243G>A	CA6694113	BBS10	c.1742C>T (p.Pro581Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346243G>C	CA385810215	BBS10	c.1742C>G (p.Pro581Arg)	dbSNP gnomAD v3 gnomAD v4
12	g.76346243G=	CA2047353221	BBS10	c.1742C= (p.Pro581=)
12	g.76346243G>T	CA385810217	BBS10	c.1742C>A (p.Pro581Gln)
12	g.76346244G>A	CA385810219	BBS10	c.1741C>T (p.Pro581Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346244G>C	CA385810222	BBS10	c.1741C>G (p.Pro581Ala)
12	g.76346244G=	CA2047353222	BBS10	c.1741C= (p.Pro581=)
12	g.76346244G>T	CA385810225	BBS10	c.1741C>A (p.Pro581Thr)
12	g.76346245T>A	CA385810228	BBS10	c.1740A>T (p.Leu580Phe)
12	g.76346245T>C	CA481011062	BBS10	c.1740A>G (p.Leu580=)	ClinVar dbSNP
12	g.76346245T>G	CA385810229	BBS10	c.1740A>C (p.Leu580Phe)
12	g.76346246A>C	CA385810230	BBS10	c.1739T>G (p.Leu580Ter)
12	g.76346246A>G	CA385810233	BBS10	c.1739T>C (p.Leu580Ser)
12	g.76346246A>T	CA385810236	BBS10	c.1739T>A (p.Leu580Ter)
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)

Number of alleles fetched