Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.76346035del	CA658823422	BBS10	c.1952del (p.Lys651SerfsTer9)	ClinVar dbSNP
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=)
12	g.76346036C>A	CA385808835	BBS10	c.1949G>T (p.Gly650Val)
12	g.76346036C>G	CA385808837	BBS10	c.1949G>C (p.Gly650Ala)
12	g.76346036C>T	CA385808843	BBS10	c.1949G>A (p.Gly650Glu)
12	g.76346037del	CA6694075	BBS10	c.1949del (p.Gly650GlufsTer10)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346037C>A	CA385808847	BBS10	c.1948G>T (p.Gly650Ter)
12	g.76346037C=	CA2047353129	BBS10	c.1948G= (p.Gly650=)
12	g.76346037C>G	CA385808854	BBS10	c.1948G>C (p.Gly650Arg)
12	g.76346037C>T	CA6694076	BBS10	c.1948G>A (p.Gly650Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346038T>A	CA481011054	BBS10	c.1947A>T (p.Thr649=)
12	g.76346038T>C	CA481011055	BBS10	c.1947A>G (p.Thr649=)	ClinVar dbSNP
12	g.76346038T>G	CA481011056	BBS10	c.1947A>C (p.Thr649=)
12	g.76346039G>A	CA385808860	BBS10	c.1946C>T (p.Thr649Ile)	dbSNP gnomAD v2 gnomAD v4
12	g.76346039G>C	CA6694077	BBS10	c.1946C>G (p.Thr649Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346039G=	CA2047353130	BBS10	c.1946C= (p.Thr649=)
12	g.76346039G>T	CA385808862	BBS10	c.1946C>A (p.Thr649Lys)
12	g.76346040T>A	CA385808865	BBS10	c.1945A>T (p.Thr649Ser)
12	g.76346040T>C	CA385808866	BBS10	c.1945A>G (p.Thr649Ala)
12	g.76346040T>G	CA385808868	BBS10	c.1945A>C (p.Thr649Pro)
12	g.76346041T>A	CA385808870	BBS10	c.1944A>T (p.Lys648Asn)
12	g.76346041T>C	CA481011060	BBS10	c.1944A>G (p.Lys648=)	ClinVar
12	g.76346041T>G	CA385808872	BBS10	c.1944A>C (p.Lys648Asn)
12	g.76346042T>A	CA239331513	BBS10	c.1943A>T (p.Lys648Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346042T>C	CA385808875	BBS10	c.1943A>G (p.Lys648Arg)
12	g.76346042T>G	CA385808876	BBS10	c.1943A>C (p.Lys648Thr)
12	g.76346042T=	CA2047353131	BBS10	c.1943A= (p.Lys648=)
12	g.76346043T>A	CA385808877	BBS10	c.1942A>T (p.Lys648Ter)
12	g.76346043T>C	CA385808878	BBS10	c.1942A>G (p.Lys648Glu)	dbSNP gnomAD v3 gnomAD v4
12	g.76346043T>G	CA385808880	BBS10	c.1942A>C (p.Lys648Gln)
12	g.76346043T=	CA2047353132	BBS10	c.1942A= (p.Lys648=)
12	g.76346044A=	CA2047353133	BBS10	c.1941T= (p.Ser647=)
12	g.76346044A>C	CA6694078	BBS10	c.1941T>G (p.Ser647=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346044A>G	CA481011064	BBS10	c.1941T>C (p.Ser647=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346044A>T	CA481011065	BBS10	c.1941T>A (p.Ser647=)
12	g.76346045G>A	CA385808894	BBS10	c.1940C>T (p.Ser647Phe)
12	g.76346045G>C	CA385808896	BBS10	c.1940C>G (p.Ser647Cys)
12	g.76346045G>T	CA385808897	BBS10	c.1940C>A (p.Ser647Tyr)
12	g.76346046A=	CA2047353134	BBS10	c.1939T= (p.Ser647=)
12	g.76346046A>C	CA239331520	BBS10	c.1939T>G (p.Ser647Ala)	dbSNP gnomAD v4
12	g.76346046A>G	CA385808902	BBS10	c.1939T>C (p.Ser647Pro)
12	g.76346046A>T	CA385808903	BBS10	c.1939T>A (p.Ser647Thr)	gnomAD v4
12	g.76346047T>A	CA385808908	BBS10	c.1938A>T (p.Lys646Asn)
12	g.76346047T>C	CA481011068	BBS10	c.1938A>G (p.Lys646=)
12	g.76346047T>G	CA385808905	BBS10	c.1938A>C (p.Lys646Asn)	dbSNP
12	g.76346047T=	CA2047353135	BBS10	c.1938A= (p.Lys646=)
12	g.76346048T>A	CA385808911	BBS10	c.1937A>T (p.Lys646Ile)	gnomAD v4
12	g.76346048T>C	CA385808913	BBS10	c.1937A>G (p.Lys646Arg)	dbSNP gnomAD v4
12	g.76346048T>G	CA385808921	BBS10	c.1937A>C (p.Lys646Thr)
12	g.76346048T=	CA2047353136	BBS10	c.1937A= (p.Lys646=)
12	g.76346049T>A	CA385808924	BBS10	c.1936A>T (p.Lys646Ter)
12	g.76346049T>C	CA6694079	BBS10	c.1936A>G (p.Lys646Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346049T>G	CA385808928	BBS10	c.1936A>C (p.Lys646Gln)
12	g.76346049T=	CA2047353137	BBS10	c.1936A= (p.Lys646=)
12	g.76346050A>C	CA385808930	BBS10	c.1935T>G (p.Tyr645Ter)
12	g.76346050A>G	CA481011072	BBS10	c.1935T>C (p.Tyr645=)
12	g.76346050A>T	CA385808931	BBS10	c.1935T>A (p.Tyr645Ter)
12	g.76346051T>A	CA385808935	BBS10	c.1934A>T (p.Tyr645Phe)
12	g.76346051T>C	CA385808937	BBS10	c.1934A>G (p.Tyr645Cys)	gnomAD v4
12	g.76346051T>G	CA385808939	BBS10	c.1934A>C (p.Tyr645Ser)
12	g.76346052A>C	CA385808944	BBS10	c.1933T>G (p.Tyr645Asp)
12	g.76346052A>G	CA385808946	BBS10	c.1933T>C (p.Tyr645His)
12	g.76346052A>T	CA385808949	BBS10	c.1933T>A (p.Tyr645Asn)
12	g.76346053A>C	CA481011077	BBS10	c.1932T>G (p.Leu644=)
12	g.76346053A>G	CA481011078	BBS10	c.1932T>C (p.Leu644=)
12	g.76346053A>T	CA481011079	BBS10	c.1932T>A (p.Leu644=)
12	g.76346054A>C	CA385808958	BBS10	c.1931T>G (p.Leu644Arg)
12	g.76346054A>G	CA385808954	BBS10	c.1931T>C (p.Leu644Pro)
12	g.76346054A>T	CA385808952	BBS10	c.1931T>A (p.Leu644His)
12	g.76346055G>A	CA385808963	BBS10	c.1930C>T (p.Leu644Phe)	ClinVar gnomAD v4
12	g.76346055G>C	CA385808961	BBS10	c.1930C>G (p.Leu644Val)	gnomAD v4
12	g.76346055G>T	CA385808967	BBS10	c.1930C>A (p.Leu644Ile)
12	g.76346056G>A	CA6694080	BBS10	c.1929C>T (p.Val643=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346056G>C	CA481011085	BBS10	c.1929C>G (p.Val643=)
12	g.76346056G=	CA2047353138	BBS10	c.1929C= (p.Val643=)
12	g.76346056G>T	CA481011087	BBS10	c.1929C>A (p.Val643=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346057A=	CA2047353139	BBS10	c.1928T= (p.Val643=)
12	g.76346057A>C	CA385808972	BBS10	c.1928T>G (p.Val643Gly)
12	g.76346057A>G	CA385808976	BBS10	c.1928T>C (p.Val643Ala)	dbSNP gnomAD v3 gnomAD v4
12	g.76346057A>T	CA385808978	BBS10	c.1928T>A (p.Val643Asp)
12	g.76346058C>A	CA385808979	BBS10	c.1927G>T (p.Val643Phe)
12	g.76346058C=	CA2047353140	BBS10	c.1927G= (p.Val643=)
12	g.76346058C>G	CA385808980	BBS10	c.1927G>C (p.Val643Leu)
12	g.76346058C>T	CA6694081	BBS10	c.1927G>A (p.Val643Ile)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346059T>A	CA385808982	BBS10	c.1926A>T (p.Lys642Asn)
12	g.76346059T>C	CA481011100	BBS10	c.1926A>G (p.Lys642=)
12	g.76346059T>G	CA385808983	BBS10	c.1926A>C (p.Lys642Asn)
12	g.76346060T>A	CA385808987	BBS10	c.1925A>T (p.Lys642Ile)
12	g.76346060T>C	CA6694082	BBS10	c.1925A>G (p.Lys642Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346060T>G	CA385808990	BBS10	c.1925A>C (p.Lys642Thr)
12	g.76346060T=	CA2047353141	BBS10	c.1925A= (p.Lys642=)
12	g.76346061T>A	CA385808995	BBS10	c.1924A>T (p.Lys642Ter)
12	g.76346061T>C	CA385808996	BBS10	c.1924A>G (p.Lys642Glu)
12	g.76346061T>G	CA385808993	BBS10	c.1924A>C (p.Lys642Gln)
12	g.76346062G>A	CA6694083	BBS10	c.1923C>T (p.Pro641=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346062G>C	CA481011107	BBS10	c.1923C>G (p.Pro641=)	dbSNP
12	g.76346062G=	CA2047353142	BBS10	c.1923C= (p.Pro641=)
12	g.76346062G>T	CA481011108	BBS10	c.1923C>A (p.Pro641=)
12	g.76346063G>A	CA385809001	BBS10	c.1922C>T (p.Pro641Leu)	gnomAD v4
12	g.76346063G>C	CA385809003	BBS10	c.1922C>G (p.Pro641Arg)
12	g.76346063G>T	CA385809006	BBS10	c.1922C>A (p.Pro641His)
12	g.76346064G>A	CA385809014	BBS10	c.1921C>T (p.Pro641Ser)
12	g.76346064G>C	CA385809011	BBS10	c.1921C>G (p.Pro641Ala)
12	g.76346064G>T	CA385809009	BBS10	c.1921C>A (p.Pro641Thr)	gnomAD v4
12	g.76346065A>C	CA385809018	BBS10	c.1920T>G (p.Ile640Met)
12	g.76346065A>G	CA481011114	BBS10	c.1920T>C (p.Ile640=)
12	g.76346065A>T	CA481011115	BBS10	c.1920T>A (p.Ile640=)	gnomAD v4
12	g.76346066A>C	CA385809020	BBS10	c.1919T>G (p.Ile640Ser)
12	g.76346066A>G	CA385809023	BBS10	c.1919T>C (p.Ile640Thr)
12	g.76346066A>T	CA385809025	BBS10	c.1919T>A (p.Ile640Asn)
12	g.76346067T>A	CA385809030	BBS10	c.1918A>T (p.Ile640Phe)	COSMIC
12	g.76346067T>C	CA6694084	BBS10	c.1918A>G (p.Ile640Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346067T>G	CA385809034	BBS10	c.1918A>C (p.Ile640Leu)	gnomAD v4
12	g.76346067T=	CA2047353143	BBS10	c.1918A= (p.Ile640=)
12	g.76346068G>A	CA481011121	BBS10	c.1917C>T (p.Gly639=)
12	g.76346068G>C	CA6694085	BBS10	c.1917C>G (p.Gly639=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346068G=	CA2047353144	BBS10	c.1917C= (p.Gly639=)
12	g.76346068G>T	CA481011126	BBS10	c.1917C>A (p.Gly639=)
12	g.76346069C>A	CA385809046	BBS10	c.1916G>T (p.Gly639Val)
12	g.76346069C>G	CA385809041	BBS10	c.1916G>C (p.Gly639Ala)
12	g.76346069C>T	CA385809044	BBS10	c.1916G>A (p.Gly639Asp)	gnomAD v4
12	g.76346070C>A	CA385809048	BBS10	c.1915G>T (p.Gly639Cys)
12	g.76346070C=	CA2047353145	BBS10	c.1915G= (p.Gly639=)
12	g.76346070C>G	CA385809051	BBS10	c.1915G>C (p.Gly639Arg)
12	g.76346070C>T	CA385809052	BBS10	c.1915G>A (p.Gly639Ser)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.76346071_76346079del	CA2796591352	BBS10	c.1907_1915del (p.Ala636_Leu638del)
12	g.76346071T>A	CA385809056	BBS10	c.1914A>T (p.Leu638Phe)
12	g.76346071T>C	CA481011134	BBS10	c.1914A>G (p.Leu638=)
12	g.76346071T>G	CA385809058	BBS10	c.1914A>C (p.Leu638Phe)
12	g.76346072A=	CA2047353146	BBS10	c.1913T= (p.Leu638=)
12	g.76346072A>C	CA385809065	BBS10	c.1913T>G (p.Leu638Ter)
12	g.76346072A>G	CA385809060	BBS10	c.1913T>C (p.Leu638Ser)	dbSNP
12	g.76346072A>T	CA385809063	BBS10	c.1913T>A (p.Leu638Ter)
12	g.76346073A=	CA2047353147	BBS10	c.1912T= (p.Leu638=)
12	g.76346073A>C	CA385809068	BBS10	c.1912T>G (p.Leu638Val)	gnomAD v4
12	g.76346073A>G	CA481011136	BBS10	c.1912T>C (p.Leu638=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346073A>T	CA385809069	BBS10	c.1912T>A (p.Leu638Ile)
12	g.76346074A>C	CA481011142	BBS10	c.1911T>G (p.Leu637=)
12	g.76346074A>G	CA481011140	BBS10	c.1911T>C (p.Leu637=)
12	g.76346074A>T	CA481011138	BBS10	c.1911T>A (p.Leu637=)
12	g.76346075A=	CA2047353148	BBS10	c.1910T= (p.Leu637=)
12	g.76346075A>C	CA385809071	BBS10	c.1910T>G (p.Leu637Arg)	dbSNP
12	g.76346075A>G	CA385809073	BBS10	c.1910T>C (p.Leu637Pro)
12	g.76346075A>T	CA385809075	BBS10	c.1910T>A (p.Leu637His)
12	g.76346076G>A	CA385809078	BBS10	c.1909C>T (p.Leu637Phe)	dbSNP gnomAD v3
12	g.76346076G>C	CA385809080	BBS10	c.1909C>G (p.Leu637Val)	ClinVar dbSNP
12	g.76346076G=	CA2047353149	BBS10	c.1909C= (p.Leu637=)
12	g.76346076G>T	CA6694086	BBS10	c.1909C>A (p.Leu637Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346077T>A	CA481011147	BBS10	c.1908A>T (p.Ala636=)
12	g.76346077T>C	CA481011151	BBS10	c.1908A>G (p.Ala636=)
12	g.76346077T>G	CA481011155	BBS10	c.1908A>C (p.Ala636=)
12	g.76346078G>A	CA239331547	BBS10	c.1907C>T (p.Ala636Val)	ClinVar dbSNP
12	g.76346078G>C	CA385809083	BBS10	c.1907C>G (p.Ala636Gly)
12	g.76346078G=	CA2047353150	BBS10	c.1907C= (p.Ala636=)
12	g.76346078G>T	CA385809085	BBS10	c.1907C>A (p.Ala636Glu)
12	g.76346079C>A	CA385809087	BBS10	c.1906G>T (p.Ala636Ser)
12	g.76346079C=	CA2047353151	BBS10	c.1906G= (p.Ala636=)
12	g.76346079C>G	CA385809089	BBS10	c.1906G>C (p.Ala636Pro)
12	g.76346079C>T	CA385809093	BBS10	c.1906G>A (p.Ala636Thr)	dbSNP gnomAD v3 gnomAD v4
12	g.76346080A>C	CA385809100	BBS10	c.1905T>G (p.Asn635Lys)
12	g.76346080A>G	CA481011164	BBS10	c.1905T>C (p.Asn635=)
12	g.76346080A>T	CA385809102	BBS10	c.1905T>A (p.Asn635Lys)
12	g.76346081T>A	CA385809103	BBS10	c.1904A>T (p.Asn635Ile)
12	g.76346081T>C	CA6694087	BBS10	c.1904A>G (p.Asn635Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346081T>G	CA385809109	BBS10	c.1904A>C (p.Asn635Thr)
12	g.76346081T=	CA2047353152	BBS10	c.1904A= (p.Asn635=)
12	g.76346082T>A	CA385809113	BBS10	c.1903A>T (p.Asn635Tyr)
12	g.76346082T>C	CA385809119	BBS10	c.1903A>G (p.Asn635Asp)	dbSNP
12	g.76346082T>G	CA385809116	BBS10	c.1903A>C (p.Asn635His)
12	g.76346082T=	CA2047353153	BBS10	c.1903A= (p.Asn635=)
12	g.76346083A>C	CA481011168	BBS10	c.1902T>G (p.Ala634=)
12	g.76346083A>G	CA481011170	BBS10	c.1902T>C (p.Ala634=)
12	g.76346083A>T	CA481011171	BBS10	c.1902T>A (p.Ala634=)
12	g.76346084G>A	CA239331554	BBS10	c.1901C>T (p.Ala634Val)	dbSNP
12	g.76346084G>C	CA385809125	BBS10	c.1901C>G (p.Ala634Gly)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346084G=	CA2047353154	BBS10	c.1901C= (p.Ala634=)
12	g.76346084G>T	CA385809123	BBS10	c.1901C>A (p.Ala634Asp)
12	g.76346085C>A	CA385809128	BBS10	c.1900G>T (p.Ala634Ser)	dbSNP
12	g.76346085C=	CA2047353155	BBS10	c.1900G= (p.Ala634=)
12	g.76346085C>G	CA385809130	BBS10	c.1900G>C (p.Ala634Pro)
12	g.76346085C>T	CA385809133	BBS10	c.1900G>A (p.Ala634Thr)	dbSNP
12	g.76346086T>A	CA481011181	BBS10	c.1899A>T (p.Ile633=)	ClinVar
12	g.76346086T>C	CA385809136	BBS10	c.1899A>G (p.Ile633Met)	gnomAD v4
12	g.76346086T>G	CA481011182	BBS10	c.1899A>C (p.Ile633=)
12	g.76346087A>C	CA385809141	BBS10	c.1898T>G (p.Ile633Arg)
12	g.76346087A>G	CA385809144	BBS10	c.1898T>C (p.Ile633Thr)
12	g.76346087A>T	CA385809147	BBS10	c.1898T>A (p.Ile633Lys)
12	g.76346088T>A	CA385809151	BBS10	c.1897A>T (p.Ile633Leu)
12	g.76346088T>C	CA385809152	BBS10	c.1897A>G (p.Ile633Val)
12	g.76346088T>G	CA385809153	BBS10	c.1897A>C (p.Ile633Leu)
12	g.76346088_76346093delinsTTATCA	CA2047353156	BBS10	c.1892_1897delinsTGATAA (p.Met631=)
12	g.76346089T>A	CA481011191	BBS10	c.1896A>T (p.Ile632=)
12	g.76346089T>C	CA385809154	BBS10	c.1896A>G (p.Ile632Met)	ClinVar
12	g.76346089T>G	CA481011190	BBS10	c.1896A>C (p.Ile632=)
12	g.76346091_76346095del	CA691952349	BBS10	c.1892_1896del (p.Met631AsnfsTer3)	ClinVar dbSNP
12	g.76346090A=	CA2047353157	BBS10	c.1895T= (p.Ile632=)
12	g.76346090A>C	CA385809157	BBS10	c.1895T>G (p.Ile632Arg)
12	g.76346090A>G	CA239331557	BBS10	c.1895T>C (p.Ile632Thr)	dbSNP gnomAD v3 gnomAD v4
12	g.76346090A>T	CA385809156	BBS10	c.1895T>A (p.Ile632Lys)
12	g.76346091T>A	CA385809160	BBS10	c.1894A>T (p.Ile632Leu)
12	g.76346091T>C	CA385809167	BBS10	c.1894A>G (p.Ile632Val)
12	g.76346091T>G	CA385809171	BBS10	c.1894A>C (p.Ile632Leu)
12	g.76346092C>A	CA385809174	BBS10	c.1893G>T (p.Met631Ile)	dbSNP gnomAD v4
12	g.76346092C=	CA2047353158	BBS10	c.1893G= (p.Met631=)
12	g.76346092C>G	CA6694088	BBS10	c.1893G>C (p.Met631Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346092C>T	CA385809179	BBS10	c.1893G>A (p.Met631Ile)	dbSNP
12	g.76346092_76346096del	CA2695217031	BBS10	c.1889_1893del (p.Ser630AsnfsTer4)
12	g.76346093A=	CA2047353159	BBS10	c.1892T= (p.Met631=)
12	g.76346093A>C	CA385809182	BBS10	c.1892T>G (p.Met631Arg)
12	g.76346093A>G	CA385809185	BBS10	c.1892T>C (p.Met631Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346093A>T	CA385809187	BBS10	c.1892T>A (p.Met631Lys)
12	g.76346094T>A	CA385809189	BBS10	c.1891A>T (p.Met631Leu)	gnomAD v4
12	g.76346094T>C	CA385809192	BBS10	c.1891A>G (p.Met631Val)	ClinVar dbSNP gnomAD v4
12	g.76346094T>G	CA385809195	BBS10	c.1891A>C (p.Met631Leu)
12	g.76346094T=	CA2047353160	BBS10	c.1891A= (p.Met631=)
12	g.76346094dup	CA2619945588	BBS10	c.1891dup (p.Met631AsnfsTer5)	gnomAD v4
12	g.76346095A>C	CA385809202	BBS10	c.1890T>G (p.Ser630Arg)
12	g.76346095A>G	CA481011203	BBS10	c.1890T>C (p.Ser630=)
12	g.76346095A>T	CA385809199	BBS10	c.1890T>A (p.Ser630Arg)
12	g.76346096C>A	CA385809205	BBS10	c.1889G>T (p.Ser630Ile)
12	g.76346096C=	CA2047353161	BBS10	c.1889G= (p.Ser630=)
12	g.76346096C>G	CA385809209	BBS10	c.1889G>C (p.Ser630Thr)	gnomAD v4
12	g.76346096C>T	CA385809210	BBS10	c.1889G>A (p.Ser630Asn)	dbSNP gnomAD v2 gnomAD v4
12	g.76346097T>A	CA385809213	BBS10	c.1888A>T (p.Ser630Cys)
12	g.76346097T>C	CA385809216	BBS10	c.1888A>G (p.Ser630Gly)	gnomAD v4
12	g.76346097T>G	CA385809220	BBS10	c.1888A>C (p.Ser630Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.76346097T=	CA2047353162	BBS10	c.1888A= (p.Ser630=)
12	g.76346098A>C	CA481010598	BBS10	c.1887T>G (p.Val629=)
12	g.76346098A>G	CA481010599	BBS10	c.1887T>C (p.Val629=)
12	g.76346098A>T	CA481010600	BBS10	c.1887T>A (p.Val629=)	gnomAD v4
12	g.76346099A>C	CA385809223	BBS10	c.1886T>G (p.Val629Gly)
12	g.76346099A>G	CA385809226	BBS10	c.1886T>C (p.Val629Ala)
12	g.76346099A>T	CA385809229	BBS10	c.1886T>A (p.Val629Asp)
12	g.76346100C>A	CA385809232	BBS10	c.1885G>T (p.Val629Phe)
12	g.76346100C=	CA2047353163	BBS10	c.1885G= (p.Val629=)
12	g.76346100C>G	CA6694089	BBS10	c.1885G>C (p.Val629Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346100C>T	CA385809235	BBS10	c.1885G>A (p.Val629Ile)
12	g.76346101C>A	CA385809242	BBS10	c.1884G>T (p.Met628Ile)
12	g.76346101C>G	CA385809245	BBS10	c.1884G>C (p.Met628Ile)
12	g.76346101C>T	CA385809241	BBS10	c.1884G>A (p.Met628Ile)
12	g.76346102A>C	CA385809249	BBS10	c.1883T>G (p.Met628Arg)
12	g.76346102A>G	CA385809251	BBS10	c.1883T>C (p.Met628Thr)	gnomAD v4
12	g.76346102A>T	CA385809252	BBS10	c.1883T>A (p.Met628Lys)
12	g.76346103T>A	CA385809256	BBS10	c.1882A>T (p.Met628Leu)
12	g.76346103T>C	CA6694090	BBS10	c.1882A>G (p.Met628Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346103T>G	CA385809266	BBS10	c.1882A>C (p.Met628Leu)
12	g.76346103T=	CA2047353164	BBS10	c.1882A= (p.Met628=)
12	g.76346104G>A	CA481010609	BBS10	c.1881C>T (p.Thr627=)
12	g.76346104G>C	CA481010613	BBS10	c.1881C>G (p.Thr627=)	dbSNP gnomAD v3 gnomAD v4
12	g.76346104G=	CA2047353165	BBS10	c.1881C= (p.Thr627=)
12	g.76346104G>T	CA481010622	BBS10	c.1881C>A (p.Thr627=)
12	g.76346105G>A	CA385809270	BBS10	c.1880C>T (p.Thr627Ile)
12	g.76346105G>C	CA385809275	BBS10	c.1880C>G (p.Thr627Ser)
12	g.76346105G=	CA2047353166	BBS10	c.1880C= (p.Thr627=)
12	g.76346105G>T	CA385809273	BBS10	c.1880C>A (p.Thr627Asn)	dbSNP gnomAD v2
12	g.76346106T>A	CA385809278	BBS10	c.1879A>T (p.Thr627Ser)
12	g.76346106T>C	CA385809281	BBS10	c.1879A>G (p.Thr627Ala)
12	g.76346106T>G	CA385809284	BBS10	c.1879A>C (p.Thr627Pro)
12	g.76346107T>A	CA385809287	BBS10	c.1878A>T (p.Glu626Asp)
12	g.76346107T>C	CA481010632	BBS10	c.1878A>G (p.Glu626=)
12	g.76346107T>G	CA385809290	BBS10	c.1878A>C (p.Glu626Asp)
12	g.76346108T>A	CA385809297	BBS10	c.1877A>T (p.Glu626Val)
12	g.76346108T>C	CA385809300	BBS10	c.1877A>G (p.Glu626Gly)
12	g.76346108T>G	CA385809294	BBS10	c.1877A>C (p.Glu626Ala)
12	g.76346109C>A	CA385809303	BBS10	c.1876G>T (p.Glu626Ter)
12	g.76346109C>G	CA385809307	BBS10	c.1876G>C (p.Glu626Gln)
12	g.76346109C>T	CA385809305	BBS10	c.1876G>A (p.Glu626Lys)	gnomAD v4
12	g.76346110T>A	CA385809311	BBS10	c.1875A>T (p.Glu625Asp)	gnomAD v4
12	g.76346110T>C	CA481010642	BBS10	c.1875A>G (p.Glu625=)	gnomAD v4
12	g.76346110T>G	CA385809314	BBS10	c.1875A>C (p.Glu625Asp)
12	g.76346111T>A	CA385809315	BBS10	c.1874A>T (p.Glu625Val)
12	g.76346111T>C	CA385809318	BBS10	c.1874A>G (p.Glu625Gly)	gnomAD v4
12	g.76346111T>G	CA385809327	BBS10	c.1874A>C (p.Glu625Ala)
12	g.76346112C>A	CA385809331	BBS10	c.1873G>T (p.Glu625Ter)
12	g.76346112C>G	CA385809333	BBS10	c.1873G>C (p.Glu625Gln)
12	g.76346112C>T	CA385809336	BBS10	c.1873G>A (p.Glu625Lys)
12	g.76346113T>A	CA481010647	BBS10	c.1872A>T (p.Ser624=)
12	g.76346113T>C	CA481010653	BBS10	c.1872A>G (p.Ser624=)	dbSNP gnomAD v3 gnomAD v4
12	g.76346113T>G	CA481010655	BBS10	c.1872A>C (p.Ser624=)
12	g.76346113T=	CA2047353167	BBS10	c.1872A= (p.Ser624=)
12	g.76346114G>A	CA385809339	BBS10	c.1871C>T (p.Ser624Leu)	ClinVar dbSNP
12	g.76346114G>C	CA6694091	BBS10	c.1871C>G (p.Ser624Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346114G=	CA2047353168	BBS10	c.1871C= (p.Ser624=)
12	g.76346114G>T	CA385809343	BBS10	c.1871C>A (p.Ser624Ter)
12	g.76346115A>C	CA385809363	BBS10	c.1870T>G (p.Ser624Ala)
12	g.76346115A>G	CA385809366	BBS10	c.1870T>C (p.Ser624Pro)
12	g.76346115A>T	CA385809369	BBS10	c.1870T>A (p.Ser624Thr)
12	g.76346116T>A	CA385809375	BBS10	c.1869A>T (p.Gln623His)
12	g.76346116T>C	CA481010685	BBS10	c.1869A>G (p.Gln623=)	ClinVar gnomAD v4
12	g.76346116T>G	CA385809373	BBS10	c.1869A>C (p.Gln623His)
12	g.76346117T>A	CA385809381	BBS10	c.1868A>T (p.Gln623Leu)
12	g.76346117T>C	CA385809386	BBS10	c.1868A>G (p.Gln623Arg)	dbSNP
12	g.76346117T>G	CA385809391	BBS10	c.1868A>C (p.Gln623Pro)
12	g.76346117T=	CA2047353169	BBS10	c.1868A= (p.Gln623=)
12	g.76346118G>A	CA385809396	BBS10	c.1867C>T (p.Gln623Ter)
12	g.76346118G>C	CA385809399	BBS10	c.1867C>G (p.Gln623Glu)
12	g.76346118G>T	CA385809402	BBS10	c.1867C>A (p.Gln623Lys)	gnomAD v4
12	g.76346119A=	CA2047353170	BBS10	c.1866T= (p.His622=)
12	g.76346119A>C	CA385809406	BBS10	c.1866T>G (p.His622Gln)
12	g.76346119A>G	CA481010699	BBS10	c.1866T>C (p.His622=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346119A>T	CA385809409	BBS10	c.1866T>A (p.His622Gln)
12	g.76346119_76346129delinsATGGCATTTTT	CA2047353171	BBS10	c.1856_1866delinsAAAAATGCCAT (p.Lys619=)
12	g.76346120T>A	CA385809419	BBS10	c.1865A>T (p.His622Leu)
12	g.76346120T>C	CA385809421	BBS10	c.1865A>G (p.His622Arg)	ClinVar dbSNP gnomAD v4
12	g.76346120T>G	CA385809423	BBS10	c.1865A>C (p.His622Pro)
12	g.76346120T=	CA2047353172	BBS10	c.1865A= (p.His622=)
12	g.76346126_76346135del	CA356963	BBS10	c.1856_1865del (p.Lys619IlefsTer10)	ClinVar dbSNP
12	g.76346121G>A	CA6694092	BBS10	c.1864C>T (p.His622Tyr)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346121G>C	CA385809435	BBS10	c.1864C>G (p.His622Asp)
12	g.76346121G=	CA2047353173	BBS10	c.1864C= (p.His622=)
12	g.76346121G>T	CA385809432	BBS10	c.1864C>A (p.His622Asn)	dbSNP
12	g.76346122G>A	CA481010706	BBS10	c.1863C>T (p.Cys621=)	dbSNP
12	g.76346122G>C	CA385809441	BBS10	c.1863C>G (p.Cys621Trp)
12	g.76346122G=	CA2047353174	BBS10	c.1863C= (p.Cys621=)
12	g.76346122G>T	CA385809443	BBS10	c.1863C>A (p.Cys621Ter)
12	g.76346123C>A	CA385809447	BBS10	c.1862G>T (p.Cys621Phe)
12	g.76346123C>G	CA385809450	BBS10	c.1862G>C (p.Cys621Ser)
12	g.76346123C>T	CA385809453	BBS10	c.1862G>A (p.Cys621Tyr)
12	g.76346124A>C	CA385809456	BBS10	c.1861T>G (p.Cys621Gly)
12	g.76346124A>G	CA385809457	BBS10	c.1861T>C (p.Cys621Arg)
12	g.76346124A>T	CA385809461	BBS10	c.1861T>A (p.Cys621Ser)
12	g.76346125T>A	CA385809464	BBS10	c.1860A>T (p.Lys620Asn)
12	g.76346125T>C	CA481010725	BBS10	c.1860A>G (p.Lys620=)
12	g.76346125T>G	CA6694093	BBS10	c.1860A>C (p.Lys620Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346125T=	CA2047353175	BBS10	c.1860A= (p.Lys620=)
12	g.76346130dup	CA2695199108	BBS10	c.1860dup (p.Cys621MetfsTer10)	ClinVar
12	g.76346130del	CA481010722	BBS10	c.1860del (p.Lys620AsnfsTer12)	gnomAD v4 COSMIC
12	g.76346126T>A	CA385809469	BBS10	c.1859A>T (p.Lys620Ile)	COSMIC
12	g.76346126T>C	CA385809472	BBS10	c.1859A>G (p.Lys620Arg)
12	g.76346126T>G	CA6694094	BBS10	c.1859A>C (p.Lys620Thr)	dbSNP ExAC gnomAD v2
12	g.76346126T=	CA2047353176	BBS10	c.1859A= (p.Lys620=)
12	g.76346127T>A	CA385809478	BBS10	c.1858A>T (p.Lys620Ter)
12	g.76346127T>C	CA385809484	BBS10	c.1858A>G (p.Lys620Glu)
12	g.76346127T>G	CA385809481	BBS10	c.1858A>C (p.Lys620Gln)
12	g.76346128T>A	CA385809486	BBS10	c.1857A>T (p.Lys619Asn)
12	g.76346128T>C	CA481010727	BBS10	c.1857A>G (p.Lys619=)
12	g.76346128T>G	CA385809489	BBS10	c.1857A>C (p.Lys619Asn)	gnomAD v4
12	g.76346129T>A	CA385809501	BBS10	c.1856A>T (p.Lys619Ile)
12	g.76346129T>C	CA385809504	BBS10	c.1856A>G (p.Lys619Arg)	ClinVar dbSNP gnomAD v4
12	g.76346129T>G	CA385809506	BBS10	c.1856A>C (p.Lys619Thr)
12	g.76346129T=	CA2047353177	BBS10	c.1856A= (p.Lys619=)
12	g.76346130T>A	CA385809510	BBS10	c.1855A>T (p.Lys619Ter)
12	g.76346130T>C	CA385809513	BBS10	c.1855A>G (p.Lys619Glu)
12	g.76346130T>G	CA385809516	BBS10	c.1855A>C (p.Lys619Gln)
12	g.76346131G>A	CA481010739	BBS10	c.1854C>T (p.Ala618=)	ClinVar dbSNP gnomAD v4
12	g.76346131G>C	CA481010741	BBS10	c.1854C>G (p.Ala618=)
12	g.76346131G>T	CA481010744	BBS10	c.1854C>A (p.Ala618=)
12	g.76346132G>A	CA385809519	BBS10	c.1853C>T (p.Ala618Val)
12	g.76346132G>C	CA385809522	BBS10	c.1853C>G (p.Ala618Gly)
12	g.76346132G>T	CA385809525	BBS10	c.1853C>A (p.Ala618Asp)
12	g.76346133C>A	CA385809534	BBS10	c.1852G>T (p.Ala618Ser)
12	g.76346133C>G	CA385809531	BBS10	c.1852G>C (p.Ala618Pro)
12	g.76346133C>T	CA385809529	BBS10	c.1852G>A (p.Ala618Thr)
12	g.76346134A>C	CA385809540	BBS10	c.1851T>G (p.Tyr617Ter)
12	g.76346134A>G	CA481010749	BBS10	c.1851T>C (p.Tyr617=)	ClinVar gnomAD v4
12	g.76346134A>T	CA385809537	BBS10	c.1851T>A (p.Tyr617Ter)
12	g.76346135T>A	CA385809549	BBS10	c.1850A>T (p.Tyr617Phe)
12	g.76346135T>C	CA6694095	BBS10	c.1850A>G (p.Tyr617Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346135T>G	CA385809547	BBS10	c.1850A>C (p.Tyr617Ser)
12	g.76346135T=	CA2047353178	BBS10	c.1850A= (p.Tyr617=)

Number of alleles fetched