Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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=)
12	g.76346136A>C	CA385809552	BBS10	c.1849T>G (p.Tyr617Asp)
12	g.76346136A>G	CA385809555	BBS10	c.1849T>C (p.Tyr617His)
12	g.76346136A>T	CA385809558	BBS10	c.1849T>A (p.Tyr617Asn)
12	g.76346137A=	CA2047353179	BBS10	c.1848T= (p.Asn616=)
12	g.76346137A>C	CA385809561	BBS10	c.1848T>G (p.Asn616Lys)	dbSNP gnomAD v2 gnomAD v4
12	g.76346137A>G	CA481010757	BBS10	c.1848T>C (p.Asn616=)	gnomAD v4
12	g.76346137A>T	CA385809563	BBS10	c.1848T>A (p.Asn616Lys)
12	g.76346138T>A	CA385809566	BBS10	c.1847A>T (p.Asn616Ile)
12	g.76346138T>C	CA6694096	BBS10	c.1847A>G (p.Asn616Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346138T>G	CA385809570	BBS10	c.1847A>C (p.Asn616Thr)
12	g.76346138T=	CA2047353180	BBS10	c.1847A= (p.Asn616=)
12	g.76346139T>A	CA385809575	BBS10	c.1846A>T (p.Asn616Tyr)
12	g.76346139T>C	CA385809578	BBS10	c.1846A>G (p.Asn616Asp)
12	g.76346139T>G	CA6694097	BBS10	c.1846A>C (p.Asn616His)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.76346139T=	CA2047353181	BBS10	c.1846A= (p.Asn616=)
12	g.76346140G>A	CA481010766	BBS10	c.1845C>T (p.Leu615=)
12	g.76346140G>C	CA481010767	BBS10	c.1845C>G (p.Leu615=)
12	g.76346140G>T	CA481010764	BBS10	c.1845C>A (p.Leu615=)	gnomAD v4
12	g.76346140_76346142del	CA2619945589	BBS10	c.1843_1845del (p.Leu615del)	gnomAD v4
12	g.76346141A>C	CA385809588	BBS10	c.1844T>G (p.Leu615Arg)
12	g.76346141A>G	CA385809582	BBS10	c.1844T>C (p.Leu615Pro)
12	g.76346141A>T	CA385809585	BBS10	c.1844T>A (p.Leu615His)
12	g.76346142G>A	CA385809591	BBS10	c.1843C>T (p.Leu615Phe)
12	g.76346142G>C	CA385809592	BBS10	c.1843C>G (p.Leu615Val)
12	g.76346142G>T	CA385809594	BBS10	c.1843C>A (p.Leu615Ile)
12	g.76346143A>C	CA481010776	BBS10	c.1842T>G (p.Leu614=)
12	g.76346143A>G	CA481010774	BBS10	c.1842T>C (p.Leu614=)
12	g.76346143A>T	CA481010775	BBS10	c.1842T>A (p.Leu614=)
12	g.76346144A>C	CA385809598	BBS10	c.1841T>G (p.Leu614Arg)
12	g.76346144A>G	CA385809601	BBS10	c.1841T>C (p.Leu614Pro)
12	g.76346144A>T	CA385809604	BBS10	c.1841T>A (p.Leu614His)
12	g.76346145G>A	CA385809607	BBS10	c.1840C>T (p.Leu614Phe)
12	g.76346145G>C	CA385809618	BBS10	c.1840C>G (p.Leu614Val)
12	g.76346145G>T	CA385809621	BBS10	c.1840C>A (p.Leu614Ile)
12	g.76346146A=	CA2047353182	BBS10	c.1839T= (p.Tyr613=)
12	g.76346146A>C	CA385809625	BBS10	c.1839T>G (p.Tyr613Ter)
12	g.76346146A>G	CA481010791	BBS10	c.1839T>C (p.Tyr613=)
12	g.76346146A>T	CA385809627	BBS10	c.1839T>A (p.Tyr613Ter)	ClinVar dbSNP
12	g.76346147T>A	CA385809633	BBS10	c.1838A>T (p.Tyr613Phe)
12	g.76346147T>C	CA241802	BBS10	c.1838A>G (p.Tyr613Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346147T>G	CA385809630	BBS10	c.1838A>C (p.Tyr613Ser)
12	g.76346147T=	CA2047353183	BBS10	c.1838A= (p.Tyr613=)
12	g.76346148A=	CA2047353184	BBS10	c.1837T= (p.Tyr613=)
12	g.76346148A>C	CA385809638	BBS10	c.1837T>G (p.Tyr613Asp)	gnomAD v4
12	g.76346148A>G	CA6694098	BBS10	c.1837T>C (p.Tyr613His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346148A>T	CA385809643	BBS10	c.1837T>A (p.Tyr613Asn)
12	g.76346149G>A	CA481010797	BBS10	c.1836C>T (p.Tyr612=)
12	g.76346149G>C	CA385809646	BBS10	c.1836C>G (p.Tyr612Ter)
12	g.76346149G>T	CA385809649	BBS10	c.1836C>A (p.Tyr612Ter)
12	g.76346150T>A	CA385809653	BBS10	c.1835A>T (p.Tyr612Phe)
12	g.76346150T>C	CA385809655	BBS10	c.1835A>G (p.Tyr612Cys)	gnomAD v4
12	g.76346150T>G	CA385809659	BBS10	c.1835A>C (p.Tyr612Ser)
12	g.76346151A>C	CA385809666	BBS10	c.1834T>G (p.Tyr612Asp)
12	g.76346151A>G	CA385809671	BBS10	c.1834T>C (p.Tyr612His)
12	g.76346151A>T	CA385809675	BBS10	c.1834T>A (p.Tyr612Asn)
12	g.76346152del	CA2573148986	BBS10	c.1834del (p.Tyr612ThrfsTer20)	ClinVar dbSNP
12	g.76346152A>C	CA385809678	BBS10	c.1833T>G (p.His611Gln)
12	g.76346152A>G	CA481010816	BBS10	c.1833T>C (p.His611=)
12	g.76346152A>T	CA385809681	BBS10	c.1833T>A (p.His611Gln)
12	g.76346153T>A	CA385809691	BBS10	c.1832A>T (p.His611Leu)
12	g.76346153T>C	CA385809685	BBS10	c.1832A>G (p.His611Arg)	dbSNP
12	g.76346153T>G	CA385809688	BBS10	c.1832A>C (p.His611Pro)
12	g.76346153T=	CA2047353185	BBS10	c.1832A= (p.His611=)
12	g.76346154G>A	CA385809694	BBS10	c.1831C>T (p.His611Tyr)
12	g.76346154G>C	CA385809696	BBS10	c.1831C>G (p.His611Asp)	gnomAD v4
12	g.76346154G>T	CA385809698	BBS10	c.1831C>A (p.His611Asn)
12	g.76346155T>A	CA385809703	BBS10	c.1830A>T (p.Leu610Phe)
12	g.76346155T>C	CA481010825	BBS10	c.1830A>G (p.Leu610=)
12	g.76346155T>G	CA385809706	BBS10	c.1830A>C (p.Leu610Phe)
12	g.76346155_76346156insTT	CA2619945590	BBS10	c.1830_1831insAA (p.His611AsnfsTer22)	gnomAD v4
12	g.76346156A=	CA2047353186	BBS10	c.1829T= (p.Leu610=)
12	g.76346156A>C	CA385809712	BBS10	c.1829T>G (p.Leu610Ter)	ClinVar dbSNP gnomAD v4
12	g.76346156A>G	CA385809715	BBS10	c.1829T>C (p.Leu610Ser)
12	g.76346156A>T	CA385809718	BBS10	c.1829T>A (p.Leu610Ter)
12	g.76346157A>C	CA385809721	BBS10	c.1828T>G (p.Leu610Val)	gnomAD v4
12	g.76346157A>G	CA481010834	BBS10	c.1828T>C (p.Leu610=)	ClinVar
12	g.76346157A>T	CA385809724	BBS10	c.1828T>A (p.Leu610Ile)
12	g.76346158C>A	CA6694099	BBS10	c.1827G>T (p.Leu609Phe)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.76346158C=	CA2047353187	BBS10	c.1827G= (p.Leu609=)
12	g.76346158C>G	CA385809730	BBS10	c.1827G>C (p.Leu609Phe)
12	g.76346158C>T	CA481010837	BBS10	c.1827G>A (p.Leu609=)	ClinVar dbSNP gnomAD v4
12	g.76346159A=	CA2047353188	BBS10	c.1826T= (p.Leu609=)
12	g.76346159A>C	CA385809737	BBS10	c.1826T>G (p.Leu609Trp)	dbSNP gnomAD v3 gnomAD v4
12	g.76346159A>G	CA385809740	BBS10	c.1826T>C (p.Leu609Ser)	ClinVar gnomAD v4
12	g.76346159A>T	CA385809735	BBS10	c.1826T>A (p.Leu609Ter)
12	g.76346160A>C	CA385809743	BBS10	c.1825T>G (p.Leu609Val)
12	g.76346160A>G	CA481010845	BBS10	c.1825T>C (p.Leu609=)	ClinVar dbSNP gnomAD v4
12	g.76346160A>T	CA385809746	BBS10	c.1825T>A (p.Leu609Met)
12	g.76346161G>A	CA6694100	BBS10	c.1824C>T (p.Ile608=)	ClinVar dbSNP ExAC gnomAD v2
12	g.76346161G>C	CA385809750	BBS10	c.1824C>G (p.Ile608Met)
12	g.76346161G=	CA2047353189	BBS10	c.1824C= (p.Ile608=)
12	g.76346161G>T	CA481010849	BBS10	c.1824C>A (p.Ile608=)	gnomAD v4
12	g.76346162A>C	CA385809754	BBS10	c.1823T>G (p.Ile608Ser)
12	g.76346162A>G	CA385809756	BBS10	c.1823T>C (p.Ile608Thr)
12	g.76346162A>T	CA385809759	BBS10	c.1823T>A (p.Ile608Asn)	gnomAD v4
12	g.76346163T>A	CA385809762	BBS10	c.1822A>T (p.Ile608Phe)
12	g.76346163T>C	CA16606610	BBS10	c.1822A>G (p.Ile608Val)	ClinVar dbSNP gnomAD v4
12	g.76346163T>G	CA385809767	BBS10	c.1822A>C (p.Ile608Leu)
12	g.76346163T=	CA2047353190	BBS10	c.1822A= (p.Ile608=)

Number of alleles fetched