Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.58280997_58281005delinsGGAAGGTCT	CA2267634889	MPO	c.135_143delinsAGACCTTCC (p.Ser45=)
17	g.58281000_58281007del	CA773487670	MPO	c.135_142del (p.Asp46SerfsTer16)	dbSNP gnomAD v3 gnomAD v4
17	g.58281004C>A	CA2638976024	MPO	c.136G>T (p.Asp46Tyr)	gnomAD v4
17	g.58281005T>C	CA2638976027	MPO	c.135A>G (p.Ser45=)	gnomAD v4
17	g.58281006G>A	CA985008252	MPO	c.134C>T (p.Ser45Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.58281006G=	CA2267634895	MPO	c.134C= (p.Ser45=)
17	g.58281006G>T	CA2638976028	MPO	c.134C>A (p.Ser45Ter)	gnomAD v4
17	g.58281007A=	CA2267634896	MPO	c.133T= (p.Ser45=)
17	g.58281007A>C	CA985008253	MPO	c.133T>G (p.Ser45Ala)	dbSNP
17	g.58281008T>C	CA2638976030	MPO	c.132A>G (p.Gly44=)	gnomAD v4
17	g.58281009C>A	CA2638976033	MPO	c.131G>T (p.Gly44Val)	gnomAD v4
17	g.58281010C>A	CA2638976034	MPO	c.130G>T (p.Gly44Ter)	gnomAD v4
17	g.58281010C=	CA2267634897	MPO	c.130G= (p.Gly44=)
17	g.58281010C>T	CA2267634898	MPO	c.130G>A (p.Gly44Arg)	dbSNP
17	g.58281011T>C	CA292020190	MPO	c.129A>G (p.Pro43=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.58281011T=	CA2267634899	MPO	c.129A= (p.Pro43=)
17	g.58281012G>A	CA2638976036	MPO	c.128C>T (p.Pro43Leu)	gnomAD v4
17	g.58281012G>T	CA2638976038	MPO	c.128C>A (p.Pro43Gln)	gnomAD v4
17	g.58281015G>T	CA2638976039	MPO	c.125C>A (p.Ser42Tyr)	gnomAD v4
17	g.58281016A>G	CA2638976040	MPO	c.124T>C (p.Ser42Pro)	gnomAD v4
17	g.58281018T>A	CA2638976042	MPO	c.122A>T (p.Gln41Leu)	gnomAD v4
17	g.58281018T>C	CA2638976043	MPO	c.122A>G (p.Gln41Arg)	gnomAD v4
17	g.58281019G>T	CA2507207669	MPO	c.121C>A (p.Gln41Lys)	gnomAD v4
17	g.58281020A>G	CA2638976047	MPO	c.120T>C (p.Val40=)	gnomAD v4
17	g.58281022C=	CA2267634900	MPO	c.118G= (p.Val40=)
17	g.58281022C>G	CA773487673	MPO	c.118G>C (p.Val40Leu)	dbSNP
17	g.58281022C>T	CA292020191	MPO	c.118G>A (p.Val40Ile)	dbSNP gnomAD v4
17	g.58281023T>A	CA292020219	MPO	c.117A>T (p.Arg39Ser)	dbSNP
17	g.58281023T>C	CA2508452530	MPO	c.117A>G (p.Arg39=)	dbSNP gnomAD v4
17	g.58281023T=	CA2267634901	MPO	c.117A= (p.Arg39=)
17	g.58281024C>G	CA2638976056	MPO	c.116G>C (p.Arg39Thr)	gnomAD v4
17	g.58281024C>T	CA2638976057	MPO	c.116G>A (p.Arg39Lys)	gnomAD v4
17	g.58281025T>C	CA985008257	MPO	c.115A>G (p.Arg39Gly)	dbSNP gnomAD v3 gnomAD v4
17	g.58281025T=	CA2267634902	MPO	c.115A= (p.Arg39=)
17	g.58281026T>C	CA2638976060	MPO	c.114A>G (p.Glu38=)	gnomAD v4
17	g.58281027T>A	CA2638976061	MPO	c.113A>T (p.Glu38Val)	gnomAD v4
17	g.58281027T>C	CA2267634903	MPO	c.113A>G (p.Glu38Gly)	dbSNP gnomAD v4
17	g.58281027T=	CA2267634904	MPO	c.113A= (p.Glu38=)
17	g.58281028C>A	CA2638976063	MPO	c.112G>T (p.Glu38Ter)	gnomAD v4
17	g.58281029T>C	CA292020223	MPO	c.111A>G (p.Gly37=)	dbSNP gnomAD v4
17	g.58281029T>G	CA2638976067	MPO	c.111A>C (p.Gly37=)	gnomAD v4
17	g.58281029T=	CA2267634905	MPO	c.111A= (p.Gly37=)
17	g.58281030C>A	CA2638976069	MPO	c.110G>T (p.Gly37Val)	gnomAD v4
17	g.58281030C=	CA2267634907	MPO	c.110G= (p.Gly37=)
17	g.58281030C>G	CA2267634906	MPO	c.110G>C (p.Gly37Ala)	dbSNP
17	g.58281030C>T	CA292020239	MPO	c.110G>A (p.Gly37Glu)	dbSNP
17	g.58281031C>A	CA2638976071	MPO	c.109G>T (p.Gly37Ter)	gnomAD v4
17	g.58281031C=	CA2267634908	MPO	c.109G= (p.Gly37=)
17	g.58281031C>T	CA2267634909	MPO	c.109G>A (p.Gly37Arg)	dbSNP gnomAD v4
17	g.58281032T>C	CA2638976075	MPO	c.108A>G (p.Gly36=)	gnomAD v4
17	g.58281032T>G	CA2638976073	MPO	c.108A>C (p.Gly36=)	gnomAD v4
17	g.58281033C>A	CA2638976077	MPO	c.107G>T (p.Gly36Val)	gnomAD v4
17	g.58281033C>T	CA2638976078	MPO	c.107G>A (p.Gly36Glu)	gnomAD v4
17	g.58281037del	CA2638976076	MPO	c.107del (p.Gly36GlufsTer21)	gnomAD v4
17	g.58281035C>A	CA626724691	MPO	c.105G>T (p.Gly35=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.58281035C=	CA2267634910	MPO	c.105G= (p.Gly35=)
17	g.58281035C>T	CA985008259	MPO	c.105G>A (p.Gly35=)	dbSNP gnomAD v3 gnomAD v4
17	g.58281036C>A	CA2638976081	MPO	c.104G>T (p.Gly35Val)	gnomAD v4
17	g.58281036C=	CA2267634911	MPO	c.104G= (p.Gly35=)
17	g.58281036C>G	CA292020243	MPO	c.104G>C (p.Gly35Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.58281036C>T	CA2638976083	MPO	c.104G>A (p.Gly35Glu)	gnomAD v4
17	g.58281037C>A	CA2638976085	MPO	c.103G>T (p.Gly35Trp)	gnomAD v4
17	g.58281037C=	CA2267634912	MPO	c.103G= (p.Gly35=)
17	g.58281037C>T	CA292020253	MPO	c.103G>A (p.Gly35Arg)	dbSNP gnomAD v3 gnomAD v4
17	g.58281038A>C	CA2638976090	MPO	c.102T>G (p.Ser34Arg)	gnomAD v4
17	g.58281038A>G	CA2638976091	MPO	c.102T>C (p.Ser34=)	gnomAD v4
17	g.58281039del	CA2733809964	MPO	c.101del (p.Ser34MetfsTer23)	dbSNP
17	g.58281039C>A	CA2638976092	MPO	c.101G>T (p.Ser34Ile)	gnomAD v4
17	g.58281039C>T	CA2638976094	MPO	c.101G>A (p.Ser34Asn)	gnomAD v4
17	g.58281040T>G	CA2638976096	MPO	c.100A>C (p.Ser34Arg)	gnomAD v4
17	g.58281042G>T	CA2638976098	MPO	c.98C>A (p.Pro33His)	gnomAD v4
17	g.58281043G>A	CA2638976103	MPO	c.97C>T (p.Pro33Ser)	gnomAD v4
17	g.58281043G>T	CA2638976101	MPO	c.97C>A (p.Pro33Thr)	gnomAD v4
17	g.58281044G>A	CA2638976109	MPO	c.96C>T (p.Asn32=)	gnomAD v4
17	g.58281044G=	CA2267634913	MPO	c.96C= (p.Asn32=)
17	g.58281044G>T	CA292020257	MPO	c.96C>A (p.Asn32Lys)	dbSNP gnomAD v3 gnomAD v4
17	g.58281045T>A	CA2638976113	MPO	c.95A>T (p.Asn32Ile)	gnomAD v4
17	g.58281045T>G	CA2638976115	MPO	c.95A>C (p.Asn32Thr)	gnomAD v4
17	g.58281046T>C	CA2638976117	MPO	c.94A>G (p.Asn32Asp)	gnomAD v4
17	g.58281047G>A	CA2638976118	MPO	c.93C>T (p.Ser31=)	gnomAD v4
17	g.58281047G>T	CA2638976119	MPO	c.93C>A (p.Ser31=)	gnomAD v4
17	g.58281049A>G	CA2638976120	MPO	c.91T>C (p.Ser31Pro)	gnomAD v4
17	g.58281049A>T	CA2638976122	MPO	c.91T>A (p.Ser31Thr)	gnomAD v4
17	g.58281050A>C	CA2638976123	MPO	c.90T>G (p.Pro30=)	gnomAD v4
17	g.58281050A>G	CA2638976124	MPO	c.90T>C (p.Pro30=)	gnomAD v4
17	g.58281050A>T	CA2638976126	MPO	c.90T>A (p.Pro30=)	gnomAD v4
17	g.58281051G>A	CA2638976128	MPO	c.89C>T (p.Pro30Leu)	gnomAD v4
17	g.58281051G>T	CA2638976132	MPO	c.89C>A (p.Pro30His)	gnomAD v4
17	g.58281052G>A	CA773487678	MPO	c.88C>T (p.Pro30Ser)	dbSNP gnomAD v3 gnomAD v4
17	g.58281052G=	CA2267634914	MPO	c.88C= (p.Pro30=)
17	g.58281052G>T	CA626724692	MPO	c.88C>A (p.Pro30Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.58281052_58281054del	CA2638976136	MPO	c.86_88del (p.Val29_Pro30delinsAla)	gnomAD v4
17	g.58281053T>G	CA2638976138	MPO	c.87A>C (p.Val29=)	gnomAD v4
17	g.58281054A=	CA2267634915	MPO	c.86T= (p.Val29=)
17	g.58281054A>G	CA292020264	MPO	c.86T>C (p.Val29Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.58281055C>A	CA2638976144	MPO	c.85G>T (p.Val29Leu)	gnomAD v4
17	g.58281055C>T	CA2638976145	MPO	c.85G>A (p.Val29Ile)	gnomAD v4
17	g.58281056A>C	CA2638976147	MPO	c.84T>G (p.Cys28Trp)	gnomAD v4
17	g.58281056A>G	CA2638976148	MPO	c.84T>C (p.Cys28=)	gnomAD v4
17	g.58281057C>A	CA2638976149	MPO	c.83G>T (p.Cys28Phe)	gnomAD v4
17	g.58281057C>T	CA2638976151	MPO	c.83G>A (p.Cys28Tyr)	gnomAD v4
17	g.58281058A>C	CA2638976155	MPO	c.82T>G (p.Cys28Gly)	gnomAD v4
17	g.58281059C>A	CA2638976160	MPO	c.81G>T (p.Leu27=)	gnomAD v4
17	g.58281059C=	CA2267634916	MPO	c.81G= (p.Leu27=)
17	g.58281059C>T	CA985008265	MPO	c.81G>A (p.Leu27=)	dbSNP gnomAD v3 gnomAD v4
17	g.58281060A=	CA2267634917	MPO	c.80T= (p.Leu27=)
17	g.58281060A>C	CA2638976164	MPO	c.80T>G (p.Leu27Arg)	gnomAD v4
17	g.58281060A>T	CA985008266	MPO	c.80T>A (p.Leu27Gln)	dbSNP gnomAD v3 gnomAD v4
17	g.58281061G>C	CA292020289	MPO	c.79C>G (p.Leu27Val)	dbSNP gnomAD v4
17	g.58281061G=	CA2267634918	MPO	c.79C= (p.Leu27=)
17	g.58281062del	CA2638976185	MPO	c.78del (p.Leu27CysfsTer?)	gnomAD v4
17	g.58281062A=	CA2267634920	MPO	c.78T= (p.Pro26=)
17	g.58281062A>G	CA773487684	MPO	c.78T>C (p.Pro26=)	dbSNP gnomAD v3 gnomAD v4
17	g.58281062A>T	CA2638976184	MPO	c.78T>A (p.Pro26=)	gnomAD v4
17	g.58281062_58281063delinsAG	CA2267634919	MPO	c.77_78delinsCT (p.Pro26=)
17	g.58281063G>A	CA2638976192	MPO	c.77C>T (p.Pro26Leu)	gnomAD v4
17	g.58281063G>C	CA2638976196	MPO	c.77C>G (p.Pro26Arg)	gnomAD v4
17	g.58281063G>T	CA2638976197	MPO	c.77C>A (p.Pro26His)	gnomAD v4
17	g.58281066del	CA773487685	MPO	c.77del (p.Pro26LeufsTer?)	dbSNP gnomAD v4
17	g.58281064G>A	CA292020290	MPO	c.76C>T (p.Pro26Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.58281064G=	CA2267634921	MPO	c.76C= (p.Pro26=)
17	g.58281064G>T	CA2638976204	MPO	c.76C>A (p.Pro26Thr)	gnomAD v4
17	g.58281065G>A	CA292020295	MPO	c.75C>T (p.Ala25=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.58281065G=	CA2267634922	MPO	c.75C= (p.Ala25=)
17	g.58281065G>T	CA2638976212	MPO	c.75C>A (p.Ala25=)	gnomAD v4
17	g.58281066G>A	CA2267634924	MPO	c.74C>T (p.Ala25Val)	dbSNP gnomAD v4
17	g.58281066G>C	CA2638976215	MPO	c.74C>G (p.Ala25Gly)	gnomAD v4
17	g.58281066G=	CA2267634923	MPO	c.74C= (p.Ala25=)
17	g.58281066G>T	CA2638976217	MPO	c.74C>A (p.Ala25Asp)	gnomAD v4
17	g.58281067C>A	CA2638976220	MPO	c.73G>T (p.Ala25Ser)	gnomAD v4
17	g.58281067C=	CA2267634925	MPO	c.73G= (p.Ala25=)
17	g.58281067C>T	CA2267634926	MPO	c.73G>A (p.Ala25Thr)	dbSNP gnomAD v4
17	g.58281070del	CA2638976223	MPO	c.73del	gnomAD v4
17	g.58281068C>A	CA2739314970	MPO	c.72G>T (p.Gly24=)
17	g.58281068C=	CA2267634927	MPO	c.72G= (p.Gly24=)
17	g.58281068C>G	CA2739314971	MPO	c.72G>C (p.Gly24=)
17	g.58281068C>T	CA292020298	MPO	c.72G>A (p.Gly24=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.58281069C>A	CA292020302	MPO	c.71G>T (p.Gly24Val)	dbSNP gnomAD v3 gnomAD v4
17	g.58281069C=	CA2267634928	MPO	c.71G= (p.Gly24=)
17	g.58281069C>T	CA773487691	MPO	c.71G>A (p.Gly24Glu)	dbSNP gnomAD v4
17	g.58281070C>A	CA2638976233	MPO	c.71-1G>T (n.71-1G>T)	gnomAD v4
17	g.58281070C=	CA2267634929	MPO	c.71-1G= (n.71-1G=)
17	g.58281070C>T	CA2267634930	MPO	c.71-1G>A (n.71-1G>A)	dbSNP gnomAD v4
17	g.58281071T>A	CA2638976237	MPO	c.71-2A>T (n.71-2A>T)	gnomAD v4
17	g.58281071T>C	CA2638976238	MPO	c.71-2A>G (n.71-2A>G)	gnomAD v4
17	g.58281071T>G	CA2638976239	MPO	c.71-2A>C (n.71-2A>C)	gnomAD v4
17	g.58281072G>T	CA2638976241	MPO	c.71-3C>A (n.71-3C>A)	gnomAD v4
17	g.58281073A=	CA2267634931	MPO	c.71-4T= (n.71-4T=)
17	g.58281073A>C	CA2638976244	MPO	c.71-4T>G (n.71-4T>G)	gnomAD v4
17	g.58281073A>G	CA773487698	MPO	c.71-4T>C (n.71-4T>C)	dbSNP gnomAD v4
17	g.58281074A>C	CA2638976247	MPO	c.71-5T>G (n.71-5T>G)	gnomAD v4
17	g.58281075A=	CA2267634932	MPO	c.71-6T= (n.71-6T=)
17	g.58281075A>C	CA2638976248	MPO	c.71-6T>G (n.71-6T>G)	gnomAD v4
17	g.58281075A>G	CA773487700	MPO	c.71-6T>C (n.71-6T>C)	dbSNP gnomAD v4
17	g.58281075A>T	CA773487703	MPO	c.71-6T>A (n.71-6T>A)	dbSNP gnomAD v4
17	g.58281076T>C	CA985008270	MPO	c.71-7A>G (n.71-7A>G)	dbSNP gnomAD v3 gnomAD v4
17	g.58281076T>G	CA985008268	MPO	c.71-7A>C (n.71-7A>C)	dbSNP gnomAD v3 gnomAD v4
17	g.58281076T=	CA2267634933	MPO	c.71-7A= (n.71-7A=)
17	g.58281076_58281077delinsTG	CA2267634934	MPO	c.71-8_71-7delinsCA (n.71-8_71-7delinsCA)
17	g.58281077G>C	CA773487718	MPO	c.71-8C>G (n.71-8C>G)	dbSNP gnomAD v3 gnomAD v4
17	g.58281077G=	CA2267634935	MPO	c.71-8C= (n.71-8C=)
17	g.58281077G>T	CA292020309	MPO	c.71-8C>A (n.71-8C>A)	dbSNP gnomAD v3 gnomAD v4
17	g.58281082dup	CA2539824828	MPO	c.71-8dup (n.71-8dup)	gnomAD v4
17	g.58281082del	CA773487713	MPO	c.71-8del (n.71-8del)	dbSNP gnomAD v4
17	g.58281078G>A	CA985008280	MPO	c.71-9C>T (n.71-9C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.58281078G=	CA2267634936	MPO	c.71-9C= (n.71-9C=)
17	g.58281078G>T	CA2638976343	MPO	c.71-9C>A (n.71-9C>A)	gnomAD v4
17	g.58281079G>T	CA2638976346	MPO	c.71-10C>A (n.71-10C>A)	gnomAD v4
17	g.58281080G>A	CA773487721	MPO	c.71-11C>T (n.71-11C>T)	dbSNP
17	g.58281080G=	CA2267634937	MPO	c.71-11C= (n.71-11C=)
17	g.58281080G>T	CA2638976352	MPO	c.71-11C>A (n.71-11C>A)	gnomAD v4
17	g.58281081G>A	CA2638976354	MPO	c.71-12C>T (n.71-12C>T)	gnomAD v4
17	g.58281081G=	CA2267634938	MPO	c.71-12C= (n.71-12C=)
17	g.58281081G>T	CA2267634939	MPO	c.71-12C>A (n.71-12C>A)	dbSNP gnomAD v4
17	g.58281082G>A	CA292020316	MPO	c.71-13C>T (n.71-13C>T)	dbSNP gnomAD v4
17	g.58281082G>C	CA2638976367	MPO	c.71-13C>G (n.71-13C>G)	gnomAD v4
17	g.58281082G=	CA2267634940	MPO	c.71-13C= (n.71-13C=)
17	g.58281082G>T	CA2524730386	MPO	c.71-13C>A (n.71-13C>A)	gnomAD v4
17	g.58281083A>G	CA2638976373	MPO	c.71-14T>C (n.71-14T>C)	gnomAD v4
17	g.58281083A>T	CA2638976377	MPO	c.71-14T>A (n.71-14T>A)	gnomAD v4
17	g.58281084del	CA2638976370	MPO	c.71-14del (n.71-14del)	dbSNP gnomAD v4
17	g.58281084A>C	CA2809973555	MPO	c.71-15T>G (n.71-15T>G)
17	g.58281084A>G	CA2638976379	MPO	c.71-15T>C (n.71-15T>C)	gnomAD v4
17	g.58281085G>A	CA2528348841	MPO	c.71-16C>T (n.71-16C>T)	gnomAD v4
17	g.58281085G>T	CA2638976383	MPO	c.71-16C>A (n.71-16C>A)	gnomAD v4
17	g.58281086G=	CA2267634941	MPO	c.71-17C= (n.71-17C=)
17	g.58281086G>T	CA292020319	MPO	c.71-17C>A (n.71-17C>A)	dbSNP
17	g.58281087G>A	CA985008281	MPO	c.71-18C>T (n.71-18C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.58281087G=	CA2267634942	MPO	c.71-18C= (n.71-18C=)
17	g.58281088G>A	CA773487723	MPO	c.71-19C>T (n.71-19C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.58281088G=	CA2267634943	MPO	c.71-19C= (n.71-19C=)
17	g.58281091G>C	CA773487724	MPO	c.71-22C>G (n.71-22C>G)	dbSNP
17	g.58281091G=	CA2267634944	MPO	c.71-22C= (n.71-22C=)
17	g.58281091G>T	CA773487728	MPO	c.71-22C>A (n.71-22C>A)	dbSNP
17	g.58281092G>T	CA2531761642	MPO	c.71-23C>A (n.71-23C>A)
17	g.58281093A=	CA2267634945	MPO	c.71-24T= (n.71-24T=)
17	g.58281093A>G	CA985008285	MPO	c.71-24T>C (n.71-24T>C)	dbSNP gnomAD v3 gnomAD v4
17	g.58281095A=	CA2267634947	MPO	c.71-26T= (n.71-26T=)
17	g.58281095A>G	CA2267634946	MPO	c.71-26T>C (n.71-26T>C)	dbSNP
17	g.58281096G>T	CA2733810048	MPO	c.71-27C>A (n.71-27C>A)	dbSNP
17	g.58281097G>C	CA2267634949	MPO	c.71-28C>G (n.71-28C>G)	dbSNP
17	g.58281097G=	CA2267634948	MPO	c.71-28C= (n.71-28C=)
17	g.58281097G>T	CA2534818338	MPO	c.71-28C>A (n.71-28C>A)
17	g.58281098A=	CA2267634950	MPO	c.71-29T= (n.71-29T=)
17	g.58281098A>G	CA292020332	MPO	c.71-29T>C (n.71-29T>C)	dbSNP gnomAD v3 gnomAD v4
17	g.58281098A>T	CA985008286	MPO	c.71-29T>A (n.71-29T>A)	gnomAD v3 gnomAD v4
17	g.58281100G>A	CA2809973556	MPO	c.71-31C>T (n.71-31C>T)
17	g.58281101G>A	CA292020336	MPO	c.71-32C>T (n.71-32C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.58281101G=	CA2267634951	MPO	c.71-32C= (n.71-32C=)
17	g.58281102G>A	CA985008287	MPO	c.71-33C>T (n.71-33C>T)	dbSNP gnomAD v3 gnomAD v4
17	g.58281102G=	CA2267634952	MPO	c.71-33C= (n.71-33C=)
17	g.58281104C>T	CA2596055772	MPO	c.71-35G>A (n.71-35G>A)	dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched