Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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=)
12	g.76346164C>A	CA239331605	BBS10	c.1821G>T (p.Glu607Asp)	dbSNP
12	g.76346164C=	CA2047353191	BBS10	c.1821G= (p.Glu607=)
12	g.76346164C>G	CA385809773	BBS10	c.1821G>C (p.Glu607Asp)
12	g.76346164C>T	CA481010860	BBS10	c.1821G>A (p.Glu607=)
12	g.76346165T>A	CA385809776	BBS10	c.1820A>T (p.Glu607Val)
12	g.76346165T>C	CA385809778	BBS10	c.1820A>G (p.Glu607Gly)
12	g.76346165T>G	CA385809782	BBS10	c.1820A>C (p.Glu607Ala)
12	g.76346166C>A	CA385809795	BBS10	c.1819G>T (p.Glu607Ter)
12	g.76346166C>G	CA385809790	BBS10	c.1819G>C (p.Glu607Gln)
12	g.76346166C>T	CA385809787	BBS10	c.1819G>A (p.Glu607Lys)
12	g.76346167A>C	CA385809799	BBS10	c.1818T>G (p.Phe606Leu)
12	g.76346167A>G	CA481010868	BBS10	c.1818T>C (p.Phe606=)
12	g.76346167A>T	CA385809802	BBS10	c.1818T>A (p.Phe606Leu)
12	g.76346168A>C	CA385809806	BBS10	c.1817T>G (p.Phe606Cys)
12	g.76346168A>G	CA385809808	BBS10	c.1817T>C (p.Phe606Ser)
12	g.76346168A>T	CA385809812	BBS10	c.1817T>A (p.Phe606Tyr)
12	g.76346169A>C	CA385809817	BBS10	c.1816T>G (p.Phe606Val)
12	g.76346169A>G	CA385809819	BBS10	c.1816T>C (p.Phe606Leu)
12	g.76346169A>T	CA385809826	BBS10	c.1816T>A (p.Phe606Ile)
12	g.76346170A>C	CA385809828	BBS10	c.1815T>G (p.Asn605Lys)
12	g.76346170A>G	CA481010875	BBS10	c.1815T>C (p.Asn605=)	gnomAD v4
12	g.76346170A>T	CA385809831	BBS10	c.1815T>A (p.Asn605Lys)
12	g.76346170_76346171del	CA2573148987	BBS10	c.1814_1815del (p.Asn605IlefsTer2)	ClinVar dbSNP
12	g.76346171T>A	CA385809832	BBS10	c.1814A>T (p.Asn605Ile)
12	g.76346171T>C	CA385809833	BBS10	c.1814A>G (p.Asn605Ser)
12	g.76346171T>G	CA385809834	BBS10	c.1814A>C (p.Asn605Thr)
12	g.76346172T>A	CA385809837	BBS10	c.1813A>T (p.Asn605Tyr)
12	g.76346172T>C	CA385809840	BBS10	c.1813A>G (p.Asn605Asp)
12	g.76346172T>G	CA385809836	BBS10	c.1813A>C (p.Asn605His)
12	g.76346173A=	CA2047353192	BBS10	c.1812T= (p.Gly604=)
12	g.76346173A>C	CA481010884	BBS10	c.1812T>G (p.Gly604=)
12	g.76346173A>G	CA239331608	BBS10	c.1812T>C (p.Gly604=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.76346173A>T	CA481010885	BBS10	c.1812T>A (p.Gly604=)
12	g.76346173dup	CA2739272194	BBS10	c.1812dup (p.Asn605Ter)	ClinVar
12	g.76346174C>A	CA385809843	BBS10	c.1811G>T (p.Gly604Val)
12	g.76346174C=	CA2047353193	BBS10	c.1811G= (p.Gly604=)
12	g.76346174C>G	CA385809844	BBS10	c.1811G>C (p.Gly604Ala)	ClinVar dbSNP
12	g.76346174C>T	CA385809846	BBS10	c.1811G>A (p.Gly604Asp)
12	g.76346175C>A	CA385809848	BBS10	c.1810G>T (p.Gly604Cys)
12	g.76346175C>G	CA385809849	BBS10	c.1810G>C (p.Gly604Arg)
12	g.76346175C>T	CA385809851	BBS10	c.1810G>A (p.Gly604Ser)
12	g.76346176A>C	CA481010893	BBS10	c.1809T>G (p.Gly603=)
12	g.76346176A>G	CA481010895	BBS10	c.1809T>C (p.Gly603=)	ClinVar dbSNP gnomAD v4
12	g.76346176A>T	CA481010896	BBS10	c.1809T>A (p.Gly603=)
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)

Number of alleles fetched