Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.58280958G>A	CA292020169	MPO	c.182C>T (p.Ala61Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.58280958G=	CA2267634867	MPO	c.182C= (p.Ala61=)
17	g.58280958G>T	CA2638975945	MPO	c.182C>A (p.Ala61Glu)	gnomAD v4
17	g.58280959C>A	CA2638975947	MPO	c.181G>T (p.Ala61Ser)	gnomAD v4
17	g.58280959C>T	CA2638975948	MPO	c.181G>A (p.Ala61Thr)	gnomAD v4
17	g.58280960T>C	CA2809973547	MPO	c.180A>G (p.Lys60=)
17	g.58280963del	CA985008235	MPO	c.180del (p.Ala61ArgfsTer5)	gnomAD v3 gnomAD v4
17	g.58280961T>C	CA2638975950	MPO	c.179A>G (p.Lys60Arg)	gnomAD v4
17	g.58280962T>C	CA2267634869	MPO	c.178A>G (p.Lys60Glu)	dbSNP
17	g.58280962T=	CA2267634868	MPO	c.178A= (p.Lys60=)
17	g.58280963T>C	CA2638975951	MPO	c.177A>G (p.Ile59Met)	gnomAD v4
17	g.58280964A=	CA2267634870	MPO	c.176T= (p.Ile59=)
17	g.58280964A>C	CA2638975952	MPO	c.176T>G (p.Ile59Arg)	gnomAD v4
17	g.58280964A>G	CA292020175	MPO	c.176T>C (p.Ile59Thr)	dbSNP gnomAD v3 gnomAD v4
17	g.58280965T>G	CA2638975955	MPO	c.175A>C (p.Ile59Leu)	gnomAD v4
17	g.58280967T>A	CA292020181	MPO	c.173A>T (p.Asp58Val)	dbSNP gnomAD v3 gnomAD v4
17	g.58280967T>C	CA2638975959	MPO	c.173A>G (p.Asp58Gly)	gnomAD v4
17	g.58280967T=	CA2267634871	MPO	c.173A= (p.Asp58=)
17	g.58280968C>A	CA2638975960	MPO	c.172G>T (p.Asp58Tyr)	gnomAD v4
17	g.58280968C>T	CA2638975962	MPO	c.172G>A (p.Asp58Asn)	gnomAD v4
17	g.58280969C>T	CA2638975964	MPO	c.171G>A (p.Glu57=)	gnomAD v4
17	g.58280970T>C	CA773487656	MPO	c.170A>G (p.Glu57Gly)	dbSNP gnomAD v3 gnomAD v4
17	g.58280970T=	CA2267634872	MPO	c.170A= (p.Glu57=)
17	g.58280972T>G	CA2638975967	MPO	c.168A>C (p.Leu56Phe)	gnomAD v4
17	g.58280973A>C	CA2638975968	MPO	c.167T>G (p.Leu56Ter)	gnomAD v4
17	g.58280973A>G	CA2638975969	MPO	c.167T>C (p.Leu56Ser)	gnomAD v4
17	g.58280975G>A	CA985008241	MPO	c.165C>T (p.Ser55=)	dbSNP gnomAD v3 gnomAD v4
17	g.58280975G=	CA2267634873	MPO	c.165C= (p.Ser55=)
17	g.58280975G>T	CA2638975971	MPO	c.165C>A (p.Ser55Arg)	gnomAD v4
17	g.58280976C>A	CA985008242	MPO	c.164G>T (p.Ser55Ile)	dbSNP gnomAD v3 gnomAD v4
17	g.58280976C=	CA2267634874	MPO	c.164G= (p.Ser55=)
17	g.58280977_58280978delinsTG	CA2267634875	MPO	c.162_163delinsCA (p.Pro54=)
17	g.58280978G>T	CA2638975976	MPO	c.162C>A (p.Pro54=)	gnomAD v4
17	g.58280982dup	CA2638975973	MPO	c.162dup (p.Ser55GlnfsTer10)	gnomAD v4
17	g.58280982del	CA2267634876	MPO	c.162del (p.Ser55AlafsTer2)	dbSNP gnomAD v4
17	g.58280979G>C	CA2638975981	MPO	c.161C>G (p.Pro54Arg)	gnomAD v4
17	g.58280979G=	CA2267634877	MPO	c.161C= (p.Pro54=)
17	g.58280979G>T	CA773487657	MPO	c.161C>A (p.Pro54His)	dbSNP gnomAD v4
17	g.58280985_58280989del	CA2638975980	MPO	c.157_161del (p.Thr53GlnfsTer10)	gnomAD v4
17	g.58280980G>A	CA2638975985	MPO	c.160C>T (p.Pro54Ser)	gnomAD v4
17	g.58280980G>T	CA2638975987	MPO	c.160C>A (p.Pro54Thr)	gnomAD v4
17	g.58280981G>T	CA2638975988	MPO	c.159C>A (p.Thr53=)	gnomAD v4
17	g.58280982G=	CA2267634878	MPO	c.158C= (p.Thr53=)
17	g.58280982G>T	CA2267634879	MPO	c.158C>A (p.Thr53Asn)	dbSNP
17	g.58280983T>C	CA2638975989	MPO	c.157A>G (p.Thr53Ala)	gnomAD v4
17	g.58280983T>G	CA2267634881	MPO	c.157A>C (p.Thr53Pro)	dbSNP gnomAD v4
17	g.58280983T=	CA2267634880	MPO	c.157A= (p.Thr53=)
17	g.58280984G>A	CA2638975993	MPO	c.156C>T (p.Pro52=)	gnomAD v4
17	g.58280984G>T	CA2638975995	MPO	c.156C>A (p.Pro52=)	gnomAD v4
17	g.58280985G>C	CA2267634883	MPO	c.155C>G (p.Pro52Arg)	dbSNP gnomAD v4
17	g.58280985G=	CA2267634882	MPO	c.155C= (p.Pro52=)
17	g.58280985G>T	CA2638975996	MPO	c.155C>A (p.Pro52His)	gnomAD v4
17	g.58280986G>T	CA2638976001	MPO	c.154C>A (p.Pro52Thr)	gnomAD v4
17	g.58280989_58280993del	CA2638975999	MPO	c.150_154del (p.Thr53GlnfsTer10)	gnomAD v4
17	g.58280987G>T	CA626724690	MPO	c.153C>A (p.His51Gln)	gnomAD v2 gnomAD v4
17	g.58280989G>A	CA2267634885	MPO	c.151C>T (p.His51Tyr)	dbSNP gnomAD v4
17	g.58280989G=	CA2267634884	MPO	c.151C= (p.His51=)
17	g.58280989G>T	CA2638976005	MPO	c.151C>A (p.His51Asn)	gnomAD v4
17	g.58280990A>G	CA2638976006	MPO	c.150T>C (p.Pro50=)	gnomAD v4
17	g.58280991G>A	CA292020183	MPO	c.149C>T (p.Pro50Leu)	dbSNP
17	g.58280991G>C	CA292020184	MPO	c.149C>G (p.Pro50Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.58280991G=	CA2267634886	MPO	c.149C= (p.Pro50=)
17	g.58280991G>T	CA2638976010	MPO	c.149C>A (p.Pro50His)	gnomAD v4
17	g.58280992G>A	CA292020189	MPO	c.148C>T (p.Pro50Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.58280992G=	CA2267634887	MPO	c.148C= (p.Pro50=)
17	g.58280993T>A	CA985008246	MPO	c.147A>T (p.Leu49=)	dbSNP gnomAD v3 gnomAD v4
17	g.58280993T>C	CA2733685796	MPO	c.147A>G (p.Leu49=)	dbSNP
17	g.58280993T=	CA2267634888	MPO	c.147A= (p.Leu49=)
17	g.58280997G>A	CA773487665	MPO	c.143C>T (p.Pro48Leu)	dbSNP gnomAD v3 gnomAD v4
17	g.58280997G=	CA2267634890	MPO	c.143C= (p.Pro48=)
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.58280999A>G	CA2638976017	MPO	c.141T>C (p.Leu47=)	gnomAD v4
17	g.58281000A=	CA2267634891	MPO	c.140T= (p.Leu47=)
17	g.58281000A>G	CA2267634892	MPO	c.140T>C (p.Leu47Pro)	dbSNP gnomAD v4
17	g.58281001G>A	CA2638976020	MPO	c.139C>T (p.Leu47Phe)	gnomAD v4
17	g.58281001G>T	CA2638976021	MPO	c.139C>A (p.Leu47Ile)	gnomAD v4
17	g.58281002G>A	CA2267634893	MPO	c.138C>T (p.Asp46=)	dbSNP gnomAD v4
17	g.58281002G=	CA2267634894	MPO	c.138C= (p.Asp46=)
17	g.58281002G>T	CA2638976022	MPO	c.138C>A (p.Asp46Glu)	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

Number of alleles fetched