Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
8	g.6877600T>C	CA1761188449	DEFB1	c.61+197A>G (n.61+197A>G)	dbSNP
8	g.6877600T=	CA1761188448	DEFB1	c.61+197A= (n.61+197A=)
8	g.6877602G=	CA1761188450	DEFB1	c.61+195C= (n.61+195C=)
8	g.6877602G>T	CA854608762	DEFB1	c.61+195C>A (n.61+195C>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877603C=	CA1761188451	DEFB1	c.61+194G= (n.61+194G=)
8	g.6877603C>T	CA171485827	DEFB1	c.61+194G>A (n.61+194G>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877604G>A	CA171485833	DEFB1	c.61+193C>T (n.61+193C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877604G=	CA1761188452	DEFB1	c.61+193C= (n.61+193C=)
8	g.6877605G>C	CA1761188454	DEFB1	c.61+192C>G (n.61+192C>G)	dbSNP
8	g.6877605G=	CA1761188453	DEFB1	c.61+192C= (n.61+192C=)
8	g.6877606C>A	CA854608775	DEFB1	c.61+191G>T (n.61+191G>T)	dbSNP gnomAD v3 gnomAD v4
8	g.6877606C=	CA1761188455	DEFB1	c.61+191G= (n.61+191G=)
8	g.6877608C=	CA1761188456	DEFB1	c.61+189G= (n.61+189G=)
8	g.6877608C>G	CA171485838	DEFB1	c.61+189G>C (n.61+189G>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877608C>T	CA171485841	DEFB1	c.61+189G>A (n.61+189G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877610C=	CA1761188457	DEFB1	c.61+187G= (n.61+187G=)
8	g.6877610C>G	CA579664316	DEFB1	c.61+187G>C (n.61+187G>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877613A=	CA1761188459	DEFB1	c.61+184T= (n.61+184T=)
8	g.6877613A>T	CA1761188458	DEFB1	c.61+184T>A (n.61+184T>A)	dbSNP
8	g.6877614C=	CA1761188460	DEFB1	c.61+183G= (n.61+183G=)
8	g.6877614C>G	CA171485849	DEFB1	c.61+183G>C (n.61+183G>C)	dbSNP
8	g.6877614C>T	CA854608797	DEFB1	c.61+183G>A (n.61+183G>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877615C=	CA1761188461	DEFB1	c.61+182G= (n.61+182G=)
8	g.6877615C>T	CA171485856	DEFB1	c.61+182G>A (n.61+182G>A)	dbSNP
8	g.6877617T>C	CA1761188463	DEFB1	c.61+180A>G (n.61+180A>G)	dbSNP
8	g.6877617T=	CA1761188462	DEFB1	c.61+180A= (n.61+180A=)
8	g.6877618G=	CA1761188464	DEFB1	c.61+179C= (n.61+179C=)
8	g.6877618G>T	CA171485863	DEFB1	c.61+179C>A (n.61+179C>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877622G>A	CA1761188466	DEFB1	c.61+175C>T (n.61+175C>T)	dbSNP
8	g.6877622G>C	CA854608804	DEFB1	c.61+175C>G (n.61+175C>G)	dbSNP
8	g.6877622G=	CA1761188465	DEFB1	c.61+175C= (n.61+175C=)
8	g.6877622G>T	CA854608803	DEFB1	c.61+175C>A (n.61+175C>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877623C=	CA1761188467	DEFB1	c.61+174G= (n.61+174G=)
8	g.6877623C>G	CA1761188468	DEFB1	c.61+174G>C (n.61+174G>C)	dbSNP
8	g.6877624T>G	CA171485878	DEFB1	c.61+173A>C (n.61+173A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877624T=	CA1761188469	DEFB1	c.61+173A= (n.61+173A=)
8	g.6877625T>C	CA2572151958	DEFB1	c.61+172A>G (n.61+172A>G)
8	g.6877627G>A	CA171485889	DEFB1	c.61+170C>T (n.61+170C>T)	dbSNP gnomAD v3 gnomAD v4
8	g.6877627G=	CA1761188470	DEFB1	c.61+170C= (n.61+170C=)
8	g.6877630G>A	CA1761188472	DEFB1	c.61+167C>T (n.61+167C>T)	dbSNP
8	g.6877630G=	CA1761188471	DEFB1	c.61+167C= (n.61+167C=)
8	g.6877630G>T	CA854608810	DEFB1	c.61+167C>A (n.61+167C>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877632G>C	CA171485896	DEFB1	c.61+165C>G (n.61+165C>G)	dbSNP gnomAD v3 gnomAD v4
8	g.6877632G=	CA1761188473	DEFB1	c.61+165C= (n.61+165C=)
8	g.6877632G>T	CA1110233881	DEFB1	c.61+165C>A (n.61+165C>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877633C=	CA1761188474	DEFB1	c.61+164G= (n.61+164G=)
8	g.6877633C>G	CA854608822	DEFB1	c.61+164G>C (n.61+164G>C)	dbSNP
8	g.6877636G=	CA1761188475	DEFB1	c.61+161C= (n.61+161C=)
8	g.6877636G>T	CA854608829	DEFB1	c.61+161C>A (n.61+161C>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877637C>A	CA1761188479	DEFB1	c.61+160G>T (n.61+160G>T)	dbSNP
8	g.6877637C=	CA1761188478	DEFB1	c.61+160G= (n.61+160G=)
8	g.6877637C>G	CA1761188477	DEFB1	c.61+160G>C (n.61+160G>C)	dbSNP
8	g.6877637C>T	CA1761188476	DEFB1	c.61+160G>A (n.61+160G>A)	dbSNP
8	g.6877638C=	CA1761188480	DEFB1	c.61+159G= (n.61+159G=)
8	g.6877638C>T	CA854608833	DEFB1	c.61+159G>A (n.61+159G>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877640G>A	CA171485912	DEFB1	c.61+157C>T (n.61+157C>T)	dbSNP gnomAD v3 gnomAD v4
8	g.6877640G>C	CA171485911	DEFB1	c.61+157C>G (n.61+157C>G)	dbSNP
8	g.6877640G=	CA1761188481	DEFB1	c.61+157C= (n.61+157C=)
8	g.6877641C=	CA1761188482	DEFB1	c.61+156G= (n.61+156G=)
8	g.6877641C>G	CA1110233889	DEFB1	c.61+156G>C (n.61+156G>C)	dbSNP gnomAD v3 gnomAD v4
8	g.6877641C>T	CA171485917	DEFB1	c.61+156G>A (n.61+156G>A)	dbSNP
8	g.6877643G>A	CA1761188484	DEFB1	c.61+154C>T (n.61+154C>T)	dbSNP
8	g.6877643G=	CA1761188483	DEFB1	c.61+154C= (n.61+154C=)
8	g.6877644C=	CA1761188485	DEFB1	c.61+153G= (n.61+153G=)
8	g.6877644C>T	CA1761188486	DEFB1	c.61+153G>A (n.61+153G>A)	dbSNP
8	g.6877645C>A	CA2686023035	DEFB1	c.61+152G>T (n.61+152G>T)	gnomAD v4
8	g.6877645C=	CA1761188487	DEFB1	c.61+152G= (n.61+152G=)
8	g.6877645C>G	CA1110233892	DEFB1	c.61+152G>C (n.61+152G>C)	dbSNP gnomAD v3 gnomAD v4
8	g.6877645C>T	CA171485921	DEFB1	c.61+152G>A (n.61+152G>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877646T>C	CA1110233894	DEFB1	c.61+151A>G (n.61+151A>G)	dbSNP gnomAD v3 gnomAD v4
8	g.6877646T=	CA1761188488	DEFB1	c.61+151A= (n.61+151A=)
8	g.6877647T>G	CA171485928	DEFB1	c.61+150A>C (n.61+150A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877647T=	CA1761188489	DEFB1	c.61+150A= (n.61+150A=)
8	g.6877648C>A	CA2686023036	DEFB1	c.61+149G>T (n.61+149G>T)	gnomAD v4
8	g.6877648C=	CA1761188490	DEFB1	c.61+149G= (n.61+149G=)
8	g.6877648C>T	CA579664731	DEFB1	c.61+149G>A (n.61+149G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877649T>G	CA854608843	DEFB1	c.61+148A>C (n.61+148A>C)	dbSNP gnomAD v3 gnomAD v4
8	g.6877649T=	CA1761188491	DEFB1	c.61+148A= (n.61+148A=)
8	g.6877650G>A	CA2686023037	DEFB1	c.61+147C>T (n.61+147C>T)	gnomAD v4
8	g.6877650G>T	CA2686023038	DEFB1	c.61+147C>A (n.61+147C>A)	gnomAD v4
8	g.6877651C>A	CA2686023039	DEFB1	c.61+146G>T (n.61+146G>T)	gnomAD v4
8	g.6877651C>T	CA2686023040	DEFB1	c.61+146G>A (n.61+146G>A)	gnomAD v4
8	g.6877652C>A	CA2686023041	DEFB1	c.61+145G>T (n.61+145G>T)	gnomAD v4
8	g.6877652C>G	CA2686023042	DEFB1	c.61+145G>C (n.61+145G>C)	gnomAD v4
8	g.6877652C>T	CA2686023043	DEFB1	c.61+145G>A (n.61+145G>A)	gnomAD v4
8	g.6877653A>C	CA2716484338	DEFB1	c.61+144T>G (n.61+144T>G)	dbSNP
8	g.6877654A=	CA1761188492	DEFB1	c.61+143T= (n.61+143T=)
8	g.6877654A>G	CA171485929	DEFB1	c.61+143T>C (n.61+143T>C)	dbSNP gnomAD v4
8	g.6877654A>T	CA1110233899	DEFB1	c.61+143T>A (n.61+143T>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877655C>A	CA2686023044	DEFB1	c.61+142G>T (n.61+142G>T)	gnomAD v4
8	g.6877655C=	CA1761188493	DEFB1	c.61+142G= (n.61+142G=)
8	g.6877655C>G	CA1761188494	DEFB1	c.61+142G>C (n.61+142G>C)	dbSNP
8	g.6877656T>A	CA2686023045	DEFB1	c.61+141A>T (n.61+141A>T)	gnomAD v4
8	g.6877656T>C	CA2686023046	DEFB1	c.61+141A>G (n.61+141A>G)	gnomAD v4
8	g.6877657G>A	CA2686023047	DEFB1	c.61+140C>T (n.61+140C>T)	gnomAD v4
8	g.6877657G>T	CA2686023048	DEFB1	c.61+140C>A (n.61+140C>A)	gnomAD v4
8	g.6877658C>A	CA2686023049	DEFB1	c.61+139G>T (n.61+139G>T)	gnomAD v4
8	g.6877658C>G	CA2778897125	DEFB1	c.61+139G>C (n.61+139G>C)
8	g.6877658C>T	CA2686023050	DEFB1	c.61+139G>A (n.61+139G>A)	gnomAD v4
8	g.6877659A>G	CA2686023051	DEFB1	c.61+138T>C (n.61+138T>C)	gnomAD v4
8	g.6877660G>C	CA171485930	DEFB1	c.61+137C>G (n.61+137C>G)	dbSNP
8	g.6877660G=	CA1761188495	DEFB1	c.61+137C= (n.61+137C=)
8	g.6877661G>T	CA2686023052	DEFB1	c.61+136C>A (n.61+136C>A)	gnomAD v4
8	g.6877662C>A	CA2686023053	DEFB1	c.61+135G>T (n.61+135G>T)	gnomAD v4
8	g.6877663C>A	CA2686023054	DEFB1	c.61+134G>T (n.61+134G>T)	gnomAD v4
8	g.6877663C=	CA1761188496	DEFB1	c.61+134G= (n.61+134G=)
8	g.6877663C>T	CA1110233900	DEFB1	c.61+134G>A (n.61+134G>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877664A=	CA1761188497	DEFB1	c.61+133T= (n.61+133T=)
8	g.6877664A>C	CA854608851	DEFB1	c.61+133T>G (n.61+133T>G)	dbSNP
8	g.6877664A>G	CA171485935	DEFB1	c.61+133T>C (n.61+133T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877664A>T	CA2686023055	DEFB1	c.61+133T>A (n.61+133T>A)	gnomAD v4
8	g.6877665C>G	CA2686023056	DEFB1	c.61+132G>C (n.61+132G>C)	gnomAD v4
8	g.6877665C>T	CA2686023057	DEFB1	c.61+132G>A (n.61+132G>A)	gnomAD v4
8	g.6877667C>A	CA2686023058	DEFB1	c.61+130G>T (n.61+130G>T)	gnomAD v4
8	g.6877667C>T	CA2686023059	DEFB1	c.61+130G>A (n.61+130G>A)	gnomAD v4
8	g.6877669A=	CA1761188498	DEFB1	c.61+128T= (n.61+128T=)
8	g.6877669A>C	CA2686023060	DEFB1	c.61+128T>G (n.61+128T>G)	gnomAD v4
8	g.6877669A>G	CA579664733	DEFB1	c.61+128T>C (n.61+128T>C)	dbSNP gnomAD v2 gnomAD v4
8	g.6877669A>T	CA1761188499	DEFB1	c.61+128T>A (n.61+128T>A)	dbSNP gnomAD v4
8	g.6877670C>A	CA2686023061	DEFB1	c.61+127G>T (n.61+127G>T)	gnomAD v4
8	g.6877671C>A	CA854608853	DEFB1	c.61+126G>T (n.61+126G>T)	dbSNP gnomAD v3 gnomAD v4
8	g.6877671C=	CA1761188500	DEFB1	c.61+126G= (n.61+126G=)
8	g.6877671C>T	CA2686023062	DEFB1	c.61+126G>A (n.61+126G>A)	gnomAD v4
8	g.6877672A=	CA1761188501	DEFB1	c.61+125T= (n.61+125T=)
8	g.6877672A>G	CA171485936	DEFB1	c.61+125T>C (n.61+125T>C)	dbSNP gnomAD v3 gnomAD v4
8	g.6877673C>A	CA2686023063	DEFB1	c.61+124G>T (n.61+124G>T)	gnomAD v4
8	g.6877673C=	CA1761188502	DEFB1	c.61+124G= (n.61+124G=)
8	g.6877673C>G	CA171485938	DEFB1	c.61+124G>C (n.61+124G>C)	dbSNP gnomAD v3 gnomAD v4
8	g.6877673C>T	CA171485939	DEFB1	c.61+124G>A (n.61+124G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877674G>A	CA1761188504	DEFB1	c.61+123C>T (n.61+123C>T)	dbSNP gnomAD v4
8	g.6877674G=	CA1761188503	DEFB1	c.61+123C= (n.61+123C=)
8	g.6877674G>T	CA2686023064	DEFB1	c.61+123C>A (n.61+123C>A)	gnomAD v4
8	g.6877675G>A	CA2570166439	DEFB1	c.61+122C>T (n.61+122C>T)
8	g.6877675G>T	CA2686023065	DEFB1	c.61+122C>A (n.61+122C>A)	gnomAD v4
8	g.6877676G=	CA1761188505	DEFB1	c.61+121C= (n.61+121C=)
8	g.6877676G>T	CA171485950	DEFB1	c.61+121C>A (n.61+121C>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877677A>G	CA2686023066	DEFB1	c.61+120T>C (n.61+120T>C)	gnomAD v4
8	g.6877677A>T	CA2686023067	DEFB1	c.61+120T>A (n.61+120T>A)	gnomAD v4
8	g.6877679G>T	CA2686023068	DEFB1	c.61+118C>A (n.61+118C>A)	gnomAD v4
8	g.6877680C>A	CA2686023069	DEFB1	c.61+117G>T (n.61+117G>T)	gnomAD v4
8	g.6877680C>G	CA2564158216	DEFB1	c.61+117G>C (n.61+117G>C)
8	g.6877680C>T	CA2686023070	DEFB1	c.61+117G>A (n.61+117G>A)	gnomAD v4
8	g.6877683del	CA2686023071	DEFB1	c.61+116del (n.61+116del)	gnomAD v4
8	g.6877682T>C	CA2686023072	DEFB1	c.61+115A>G (n.61+115A>G)	gnomAD v4
8	g.6877683T>C	CA2686023073	DEFB1	c.61+114A>G (n.61+114A>G)	gnomAD v4
8	g.6877684C=	CA1761188506	DEFB1	c.61+113G= (n.61+113G=)
8	g.6877684C>G	CA854608860	DEFB1	c.61+113G>C (n.61+113G>C)	dbSNP
8	g.6877684C>T	CA2686023074	DEFB1	c.61+113G>A (n.61+113G>A)	gnomAD v4
8	g.6877685C>A	CA2686023075	DEFB1	c.61+112G>T (n.61+112G>T)	gnomAD v4
8	g.6877685C=	CA1761188507	DEFB1	c.61+112G= (n.61+112G=)
8	g.6877685C>G	CA1761188508	DEFB1	c.61+112G>C (n.61+112G>C)	dbSNP
8	g.6877686T>C	CA2686023076	DEFB1	c.61+111A>G (n.61+111A>G)	gnomAD v4
8	g.6877687G>A	CA171485954	DEFB1	c.61+110C>T (n.61+110C>T)	dbSNP gnomAD v3 gnomAD v4
8	g.6877687G=	CA1761188509	DEFB1	c.61+110C= (n.61+110C=)
8	g.6877687G>T	CA2686023077	DEFB1	c.61+110C>A (n.61+110C>A)	gnomAD v4
8	g.6877688C>A	CA2686023078	DEFB1	c.61+109G>T (n.61+109G>T)	gnomAD v4
8	g.6877688C>T	CA2686023079	DEFB1	c.61+109G>A (n.61+109G>A)	gnomAD v4
8	g.6877689T>C	CA2686023080	DEFB1	c.61+108A>G (n.61+108A>G)	gnomAD v4
8	g.6877690G>A	CA171485968	DEFB1	c.61+107C>T (n.61+107C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8	g.6877690G=	CA1761188510	DEFB1	c.61+107C= (n.61+107C=)
8	g.6877690G>T	CA854608867	DEFB1	c.61+107C>A (n.61+107C>A)	dbSNP gnomAD v4
8	g.6877691C>A	CA2686023081	DEFB1	c.61+106G>T (n.61+106G>T)	gnomAD v4
8	g.6877691C>T	CA2686023082	DEFB1	c.61+106G>A (n.61+106G>A)	gnomAD v4
8	g.6877692T>C	CA2686023083	DEFB1	c.61+105A>G (n.61+105A>G)	gnomAD v4
8	g.6877693T>C	CA2686023084	DEFB1	c.61+104A>G (n.61+104A>G)	gnomAD v4
8	g.6877694G>C	CA2686023085	DEFB1	c.61+103C>G (n.61+103C>G)	gnomAD v4
8	g.6877694G=	CA1761188511	DEFB1	c.61+103C= (n.61+103C=)
8	g.6877694G>T	CA1110233910	DEFB1	c.61+103C>A (n.61+103C>A)	dbSNP gnomAD v3 gnomAD v4
8	g.6877696T>C	CA2716484345	DEFB1	c.61+101A>G (n.61+101A>G)	dbSNP
8	g.6877697C>A	CA2686023086	DEFB1	c.61+100G>T (n.61+100G>T)	gnomAD v4
8	g.6877697C>T	CA2686023087	DEFB1	c.61+100G>A (n.61+100G>A)	gnomAD v4
8	g.6877698C>A	CA2686023088	DEFB1	c.61+99G>T (n.61+99G>T)	gnomAD v4
8	g.6877698C=	CA1761188512	DEFB1	c.61+99G= (n.61+99G=)
8	g.6877698C>G	CA2686023089	DEFB1	c.61+99G>C (n.61+99G>C)	gnomAD v4
8	g.6877698C>T	CA1761188513	DEFB1	c.61+99G>A (n.61+99G>A)	dbSNP gnomAD v4

Number of alleles fetched