Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.63788147C>A	CA364384899	EYS	c.7681G>T (p.Asp2561Tyr) c.995G>T n.321G>T
6	g.63788147C=	CA1633415707	EYS	c.7681G= (p.Asp2561=) c.995G= n.321G=
6	g.63788147C>G	CA364384901	EYS	c.7681G>C (p.Asp2561His) c.995G>C n.321G>C
6	g.63788147C>T	CA364384903	EYS	c.7681G>A (p.Asp2561Asn) c.995G>A n.321G>A	dbSNP gnomAD v2 gnomAD v4
6	g.63788148T>A	CA450742858	EYS	c.7680A>T (p.Pro2560=) c.994A>T n.320A>T
6	g.63788148T>C	CA450742859	EYS	c.7680A>G (p.Pro2560=) c.994A>G n.320A>G
6	g.63788148T>G	CA450742860	EYS	c.7680A>C (p.Pro2560=) c.994A>C n.320A>C
6	g.63788149G>A	CA364384906	EYS	c.7679C>T (p.Pro2560Leu) c.993C>T n.319C>T	dbSNP gnomAD v2 gnomAD v4 COSMIC
6	g.63788149G>C	CA364384910	EYS	c.7679C>G (p.Pro2560Arg) c.993C>G n.319C>G
6	g.63788149G=	CA1633415708	EYS	c.7679C= (p.Pro2560=) c.993C= n.319C=
6	g.63788149G>T	CA364384908	EYS	c.7679C>A (p.Pro2560Gln) c.993C>A n.319C>A
6	g.63788150del	CA2679298327	EYS	c.7679del (p.Pro2560GlnfsTer?) c.993del n.319del	gnomAD v4
6	g.63788150G>A	CA364384913	EYS	c.7678C>T (p.Pro2560Ser) c.992C>T n.318C>T
6	g.63788150G>C	CA364384914	EYS	c.7678C>G (p.Pro2560Ala) c.992C>G n.318C>G
6	g.63788150G>T	CA364384917	EYS	c.7678C>A (p.Pro2560Thr) c.992C>A n.318C>A
6	g.63788151A>C	CA450742863	EYS	c.7677T>G (p.Thr2559=) c.991T>G n.317T>G
6	g.63788151A>G	CA450742861	EYS	c.7677T>C (p.Thr2559=) c.991T>C n.317T>C
6	g.63788151A>T	CA450742862	EYS	c.7677T>A (p.Thr2559=) c.991T>A n.317T>A
6	g.63788152G>A	CA140243936	EYS	c.7676C>T (p.Thr2559Ile) c.990C>T n.316C>T	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
6	g.63788152G>C	CA364384922	EYS	c.7676C>G (p.Thr2559Ser) c.990C>G n.316C>G
6	g.63788152G=	CA1633415709	EYS	c.7676C= (p.Thr2559=) c.990C= n.316C=
6	g.63788152G>T	CA364384924	EYS	c.7676C>A (p.Thr2559Asn) c.990C>A n.316C>A	dbSNP gnomAD v4
6	g.63788153T>A	CA364384927	EYS	c.7675A>T (p.Thr2559Ser) c.989A>T n.315A>T	dbSNP
6	g.63788153T>C	CA364384929	EYS	c.7675A>G (p.Thr2559Ala) c.989A>G n.315A>G	ClinVar dbSNP gnomAD v4
6	g.63788153T>G	CA364384931	EYS	c.7675A>C (p.Thr2559Pro) c.989A>C n.315A>C
6	g.63788153T=	CA1633415710	EYS	c.7675A= (p.Thr2559=) c.989A= n.315A=
6	g.63788154G>A	CA450742865	EYS	c.7674C>T (p.Tyr2558=) c.988C>T n.314C>T	gnomAD v4
6	g.63788154G>C	CA364384933	EYS	c.7674C>G (p.Tyr2558Ter) c.988C>G n.314C>G
6	g.63788154G>T	CA364384936	EYS	c.7674C>A (p.Tyr2558Ter) c.988C>A n.314C>A
6	g.63788155T>A	CA364384939	EYS	c.7673A>T (p.Tyr2558Phe) c.987A>T n.313A>T
6	g.63788155T>C	CA364384942	EYS	c.7673A>G (p.Tyr2558Cys) c.987A>G n.313A>G
6	g.63788155T>G	CA364384940	EYS	c.7673A>C (p.Tyr2558Ser) c.987A>C n.313A>C
6	g.63788156_63788157del	CA2679298328	EYS	c.7672_7673del (p.Tyr2558HisfsTer12) c.986_987del n.312_313del	gnomAD v4
6	g.63788156A>C	CA364384945	EYS	c.7672T>G (p.Tyr2558Asp) c.986T>G n.312T>G
6	g.63788156A>G	CA364384948	EYS	c.7672T>C (p.Tyr2558His) c.986T>C n.312T>C	ClinVar dbSNP
6	g.63788156A>T	CA364384946	EYS	c.7672T>A (p.Tyr2558Asn) c.986T>A n.312T>A
6	g.63788157T>A	CA364384951	EYS	c.7671A>T (p.Glu2557Asp) c.985A>T n.311A>T
6	g.63788157T>C	CA450742866	EYS	c.7671A>G (p.Glu2557=) c.985A>G n.311A>G
6	g.63788157T>G	CA364384953	EYS	c.7671A>C (p.Glu2557Asp) c.985A>C n.311A>C
6	g.63788158T>A	CA364384956	EYS	c.7670A>T (p.Glu2557Val) c.984A>T n.310A>T
6	g.63788158T>C	CA364384958	EYS	c.7670A>G (p.Glu2557Gly) c.984A>G n.310A>G
6	g.63788158T>G	CA364384960	EYS	c.7670A>C (p.Glu2557Ala) c.984A>C n.310A>C
6	g.63788159C>A	CA364384962	EYS	c.7669G>T (p.Glu2557Ter) c.983G>T n.309G>T
6	g.63788159C=	CA1633415711	EYS	c.7669G= (p.Glu2557=) c.983G= n.309G=
6	g.63788159C>G	CA364384964	EYS	c.7669G>C (p.Glu2557Gln) c.983G>C n.309G>C
6	g.63788159C>T	CA140243937	EYS	c.7669G>A (p.Glu2557Lys) c.983G>A n.309G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.63788160A>C	CA364384968	EYS	c.7668T>G (p.Ser2556Arg) c.982T>G n.308T>G
6	g.63788160A>G	CA450742867	EYS	c.7668T>C (p.Ser2556=) c.982T>C n.308T>C
6	g.63788160A>T	CA364384970	EYS	c.7668T>A (p.Ser2556Arg) c.982T>A n.308T>A	dbSNP gnomAD v4
6	g.63788161C>A	CA364384976	EYS	c.7667G>T (p.Ser2556Ile) c.981G>T n.307G>T
6	g.63788161C=	CA1633415712	EYS	c.7667G= (p.Ser2556=) c.981G= n.307G=
6	g.63788161C>G	CA364384974	EYS	c.7667G>C (p.Ser2556Thr) c.981G>C n.307G>C
6	g.63788161C>T	CA140243938	EYS	c.7667G>A (p.Ser2556Asn) c.981G>A n.307G>A	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.63788162T>A	CA180009	EYS	c.7666A>T (p.Ser2556Cys) c.980A>T n.306A>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.63788162T>C	CA140243939	EYS	c.7666A>G (p.Ser2556Gly) c.980A>G n.306A>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.63788162T>G	CA364384982	EYS	c.7666A>C (p.Ser2556Arg) c.980A>C n.306A>C
6	g.63788162T=	CA1633415713	EYS	c.7666A= (p.Ser2556=) c.980A= n.306A=
6	g.63788163_63788164del	CA2679298329	EYS	c.7665_7666del (p.Tyr2555Ter) c.979_980del n.305_306del	ClinVar dbSNP gnomAD v4
6	g.63788163G>A	CA450742868	EYS	c.7665C>T (p.Tyr2555=) c.979C>T n.305C>T	ClinVar dbSNP gnomAD v4
6	g.63788163G>C	CA364384985	EYS	c.7665C>G (p.Tyr2555Ter) c.979C>G n.305C>G
6	g.63788163G>T	CA364384988	EYS	c.7665C>A (p.Tyr2555Ter) c.979C>A n.305C>A
6	g.63788163_63788164delinsGT	CA1633415714	EYS	c.7664_7665delinsAC (p.Tyr2555=) c.978_979delinsAC n.304_305delinsAC
6	g.63788164del	CA1633415715	EYS	c.7664del (p.Tyr2555SerfsTer?) c.978del n.304del	dbSNP
6	g.63788164T>A	CA364384991	EYS	c.7664A>T (p.Tyr2555Phe) c.978A>T n.304A>T
6	g.63788164T>C	CA364384993	EYS	c.7664A>G (p.Tyr2555Cys) c.978A>G n.304A>G
6	g.63788164T>G	CA364384996	EYS	c.7664A>C (p.Tyr2555Ser) c.978A>C n.304A>C
6	g.63788165A=	CA1633415716	EYS	c.7663T= (p.Tyr2555=) c.977T= n.303T=
6	g.63788165A>C	CA364384998	EYS	c.7663T>G (p.Tyr2555Asp) c.977T>G n.303T>G
6	g.63788165A>G	CA140243940	EYS	c.7663T>C (p.Tyr2555His) c.977T>C n.303T>C	dbSNP gnomAD v2 gnomAD v4
6	g.63788165A>T	CA364385001	EYS	c.7663T>A (p.Tyr2555Asn) c.977T>A n.303T>A
6	g.63788166G>A	CA450742869	EYS	c.7662C>T (p.Gly2554=) c.976C>T n.302C>T
6	g.63788166G>C	CA450742870	EYS	c.7662C>G (p.Gly2554=) c.976C>G n.302C>G
6	g.63788166G>T	CA450742871	EYS	c.7662C>A (p.Gly2554=) c.976C>A n.302C>A
6	g.63788167C>A	CA364385006	EYS	c.7661G>T (p.Gly2554Val) c.975G>T n.301G>T
6	g.63788167C>G	CA364385008	EYS	c.7661G>C (p.Gly2554Ala) c.975G>C n.301G>C
6	g.63788167C>T	CA364385004	EYS	c.7661G>A (p.Gly2554Asp) c.975G>A n.301G>A	gnomAD v4
6	g.63788168C>A	CA364385011	EYS	c.7660G>T (p.Gly2554Cys) c.974G>T n.300G>T
6	g.63788168C>G	CA364385013	EYS	c.7660G>C (p.Gly2554Arg) c.974G>C n.300G>C
6	g.63788168C>T	CA364385016	EYS	c.7660G>A (p.Gly2554Ser) c.974G>A n.300G>A	gnomAD v4
6	g.63788169A>C	CA450742873	EYS	c.7659T>G (p.Gly2553=) c.973T>G n.299T>G
6	g.63788169A>G	CA450742874	EYS	c.7659T>C (p.Gly2553=) c.973T>C n.299T>C	COSMIC
6	g.63788169A>T	CA450742875	EYS	c.7659T>A (p.Gly2553=) c.973T>A n.299T>A
6	g.63788170C>A	CA364385019	EYS	c.7658G>T (p.Gly2553Val) c.972G>T n.298G>T
6	g.63788170C>G	CA364385021	EYS	c.7658G>C (p.Gly2553Ala) c.972G>C n.298G>C	gnomAD v4
6	g.63788170C>T	CA364385023	EYS	c.7658G>A (p.Gly2553Asp) c.972G>A n.298G>A	ClinVar dbSNP
6	g.63788171C>A	CA364385026	EYS	c.7657G>T (p.Gly2553Cys) c.971G>T n.297G>T
6	g.63788171C>G	CA364385028	EYS	c.7657G>C (p.Gly2553Arg) c.971G>C n.297G>C
6	g.63788171C>T	CA364385031	EYS	c.7657G>A (p.Gly2553Ser) c.971G>A n.297G>A
6	g.63788172T>A	CA450742876	EYS	c.7656A>T (p.Val2552=) c.970A>T n.296A>T
6	g.63788172T>C	CA450742877	EYS	c.7656A>G (p.Val2552=) c.970A>G n.296A>G	ClinVar gnomAD v4
6	g.63788172T>G	CA450742878	EYS	c.7656A>C (p.Val2552=) c.970A>C n.296A>C
6	g.63788173A>C	CA364385032	EYS	c.7655T>G (p.Val2552Gly) c.969T>G n.295T>G
6	g.63788173A>G	CA364385035	EYS	c.7655T>C (p.Val2552Ala) c.969T>C n.295T>C
6	g.63788173A>T	CA364385037	EYS	c.7655T>A (p.Val2552Glu) c.969T>A n.295T>A
6	g.63788173_63788174delinsAC	CA1633415717	EYS	c.7654_7655delinsGT (p.Val2552=) c.968_969delinsGT n.294_295delinsGT
6	g.63788174del	CA16618298	EYS	c.7654del (p.Val2552Ter) c.968del n.294del	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.63788174C>A	CA364385042	EYS	c.7654G>T (p.Val2552Leu) c.968G>T n.294G>T
6	g.63788174C>G	CA364385044	EYS	c.7654G>C (p.Val2552Leu) c.968G>C n.294G>C
6	g.63788174C>T	CA364385040	EYS	c.7654G>A (p.Val2552Ile) c.968G>A n.294G>A
6	g.63788175A>C	CA364385047	EYS	c.7653T>G (p.Tyr2551Ter) c.967T>G n.293T>G
6	g.63788175A>G	CA450742879	EYS	c.7653T>C (p.Tyr2551=) c.967T>C n.293T>C
6	g.63788175A>T	CA364385049	EYS	c.7653T>A (p.Tyr2551Ter) c.967T>A n.293T>A
6	g.63788176T>A	CA364385053	EYS	c.7652A>T (p.Tyr2551Phe) c.966A>T n.292A>T	dbSNP
6	g.63788176T>C	CA364385055	EYS	c.7652A>G (p.Tyr2551Cys) c.966A>G n.292A>G
6	g.63788176T>G	CA364385057	EYS	c.7652A>C (p.Tyr2551Ser) c.966A>C n.292A>C
6	g.63788177A>C	CA364385065	EYS	c.7651T>G (p.Tyr2551Asp) c.965T>G n.291T>G
6	g.63788177A>G	CA364385060	EYS	c.7651T>C (p.Tyr2551His) c.965T>C n.291T>C
6	g.63788177A>T	CA364385062	EYS	c.7651T>A (p.Tyr2551Asn) c.965T>A n.291T>A
6	g.63788178A>C	CA364385066	EYS	c.7650T>G (p.Phe2550Leu) c.964T>G n.290T>G
6	g.63788178A>G	CA450742880	EYS	c.7650T>C (p.Phe2550=) c.964T>C n.290T>C	ClinVar
6	g.63788178A>T	CA364385067	EYS	c.7650T>A (p.Phe2550Leu) c.964T>A n.290T>A
6	g.63788179A=	CA1633415718	EYS	c.7649T= (p.Phe2550=) c.963T= n.289T=
6	g.63788179A>C	CA364385279	EYS	c.7649T>G (p.Phe2550Cys) c.963T>G n.289T>G
6	g.63788179A>G	CA364385282	EYS	c.7649T>C (p.Phe2550Ser) c.963T>C n.289T>C	ClinVar dbSNP
6	g.63788179A>T	CA364385284	EYS	c.7649T>A (p.Phe2550Tyr) c.963T>A n.289T>A
6	g.63788179_63788180insTT	CA2679298330	EYS	c.7648_7649insAA (p.Phe2550Ter) c.962_963insAA n.288_289insAA	gnomAD v4
6	g.63788180A>C	CA364385291	EYS	c.7648T>G (p.Phe2550Val) c.962T>G n.288T>G
6	g.63788180A>G	CA364385289	EYS	c.7648T>C (p.Phe2550Leu) c.962T>C n.288T>C
6	g.63788180A>T	CA364385287	EYS	c.7648T>A (p.Phe2550Ile) c.962T>A n.288T>A
6	g.63788185_63788188del	CA2679298331	EYS	c.7645_7648del (p.Gln2549PhefsTer3) c.959_962del n.285_288del	gnomAD v4
6	g.63788180_63788181insT	CA2679298332	EYS	c.7647_7648insA (p.Phe2550IlefsTer8) c.961_962insA n.287_288insA	gnomAD v4
6	g.63788181C>A	CA364385293	EYS	c.7647G>T (p.Gln2549His) c.961G>T n.287G>T
6	g.63788181C=	CA1633415719	EYS	c.7647G= (p.Gln2549=) c.961G= n.287G=
6	g.63788181C>G	CA364385294	EYS	c.7647G>C (p.Gln2549His) c.961G>C n.287G>C
6	g.63788181C>T	CA450742881	EYS	c.7647G>A (p.Gln2549=) c.961G>A n.287G>A	dbSNP
6	g.63788182T>A	CA364385298	EYS	c.7646A>T (p.Gln2549Leu) c.960A>T n.286A>T
6	g.63788182T>C	CA364385303	EYS	c.7646A>G (p.Gln2549Arg) c.960A>G n.286A>G	dbSNP gnomAD v3 gnomAD v4
6	g.63788182T>G	CA364385301	EYS	c.7646A>C (p.Gln2549Pro) c.960A>C n.286A>C
6	g.63788182T=	CA1633415720	EYS	c.7646A= (p.Gln2549=) c.960A= n.286A=
6	g.63788182_63788183del	CA2573141111	EYS	c.7645_7646del (p.Gln2549ValfsTer8) c.959_960del n.285_286del	ClinVar dbSNP
6	g.63788183G>A	CA364385307	EYS	c.7645C>T (p.Gln2549Ter) c.959C>T n.285C>T
6	g.63788183G>C	CA364385309	EYS	c.7645C>G (p.Gln2549Glu) c.959C>G n.285C>G
6	g.63788183G>T	CA364385312	EYS	c.7645C>A (p.Gln2549Lys) c.959C>A n.285C>A
6	g.63788184A>C	CA364385314	EYS	c.7644T>G (p.Ser2548Arg) c.958T>G n.284T>G
6	g.63788184A>G	CA450742883	EYS	c.7644T>C (p.Ser2548=) c.958T>C n.284T>C
6	g.63788184A>T	CA364385315	EYS	c.7644T>A (p.Ser2548Arg) c.958T>A n.284T>A
6	g.63788185C>A	CA364385316	EYS	c.7643G>T (p.Ser2548Ile) c.957G>T n.283G>T
6	g.63788185C>G	CA364385317	EYS	c.7643G>C (p.Ser2548Thr) c.957G>C n.283G>C
6	g.63788185C>T	CA364385318	EYS	c.7643G>A (p.Ser2548Asn) c.957G>A n.283G>A
6	g.63788186T>A	CA364385319	EYS	c.7642A>T (p.Ser2548Cys) c.956A>T n.282A>T
6	g.63788186T>C	CA364385320	EYS	c.7642A>G (p.Ser2548Gly) c.956A>G n.282A>G
6	g.63788186T>G	CA364385321	EYS	c.7642A>C (p.Ser2548Arg) c.956A>C n.282A>C
6	g.63788187G>A	CA450742893	EYS	c.7641C>T (p.Phe2547=) c.955C>T n.281C>T
6	g.63788187G>C	CA364385323	EYS	c.7641C>G (p.Phe2547Leu) c.955C>G n.281C>G
6	g.63788187G>T	CA364385322	EYS	c.7641C>A (p.Phe2547Leu) c.955C>A n.281C>A
6	g.63788188A>C	CA364385326	EYS	c.7640T>G (p.Phe2547Cys) c.954T>G n.280T>G
6	g.63788188A>G	CA364385328	EYS	c.7640T>C (p.Phe2547Ser) c.954T>C n.280T>C
6	g.63788188A>T	CA364385330	EYS	c.7640T>A (p.Phe2547Tyr) c.954T>A n.280T>A
6	g.63788189A>C	CA364385333	EYS	c.7639T>G (p.Phe2547Val) c.953T>G n.279T>G
6	g.63788189A>G	CA364385335	EYS	c.7639T>C (p.Phe2547Leu) c.953T>C n.279T>C
6	g.63788189A>T	CA364385338	EYS	c.7639T>A (p.Phe2547Ile) c.953T>A n.279T>A
6	g.63788190G>A	CA450742898	EYS	c.7638C>T (p.Val2546=) c.952C>T n.278C>T	gnomAD v4
6	g.63788190G>C	CA450742899	EYS	c.7638C>G (p.Val2546=) c.952C>G n.278C>G
6	g.63788190G>T	CA450742897	EYS	c.7638C>A (p.Val2546=) c.952C>A n.278C>A
6	g.63788191A>C	CA364385341	EYS	c.7637T>G (p.Val2546Gly) c.951T>G n.277T>G
6	g.63788191A>G	CA364385342	EYS	c.7637T>C (p.Val2546Ala) c.951T>C n.277T>C
6	g.63788191A>T	CA364385343	EYS	c.7637T>A (p.Val2546Asp) c.951T>A n.277T>A
6	g.63788192C>A	CA364385346	EYS	c.7636G>T (p.Val2546Phe) c.950G>T n.276G>T
6	g.63788192C=	CA1633415721	EYS	c.7636G= (p.Val2546=) c.950G= n.276G=
6	g.63788192C>G	CA364385348	EYS	c.7636G>C (p.Val2546Leu) c.950G>C n.276G>C
6	g.63788192C>T	CA364385351	EYS	c.7636G>A (p.Val2546Ile) c.950G>A n.276G>A	dbSNP gnomAD v3 gnomAD v4
6	g.63788193A=	CA1633415722	EYS	c.7635T= (p.Asn2545=) c.949T= n.275T=
6	g.63788193A>C	CA364385356	EYS	c.7635T>G (p.Asn2545Lys) c.949T>G n.275T>G
6	g.63788193A>G	CA450742903	EYS	c.7635T>C (p.Asn2545=) c.949T>C n.275T>C	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.63788193A>T	CA364385354	EYS	c.7635T>A (p.Asn2545Lys) c.949T>A n.275T>A
6	g.63788194T>A	CA364385359	EYS	c.7634A>T (p.Asn2545Ile) c.948A>T n.274A>T	COSMIC
6	g.63788194T>C	CA364385361	EYS	c.7634A>G (p.Asn2545Ser) c.948A>G n.274A>G	gnomAD v4
6	g.63788194T>G	CA364385363	EYS	c.7634A>C (p.Asn2545Thr) c.948A>C n.274A>C
6	g.63788194_63788195del	CA2578659739	EYS	c.7633_7634del (p.Asn2545CysfsTer12) c.947_948del n.273_274del
6	g.63788195T>A	CA364385366	EYS	c.7633A>T (p.Asn2545Tyr) c.947A>T n.273A>T
6	g.63788195T>C	CA364385368	EYS	c.7633A>G (p.Asn2545Asp) c.947A>G n.273A>G
6	g.63788195T>G	CA364385369	EYS	c.7633A>C (p.Asn2545His) c.947A>C n.273A>C
6	g.63788196G>A	CA450742913	EYS	c.7632C>T (p.Leu2544=) c.946C>T n.272C>T
6	g.63788196G>C	CA450742914	EYS	c.7632C>G (p.Leu2544=) c.946C>G n.272C>G
6	g.63788196G>T	CA450742916	EYS	c.7632C>A (p.Leu2544=) c.946C>A n.272C>A
6	g.63788197A>C	CA364385372	EYS	c.7631T>G (p.Leu2544Arg) c.945T>G n.271T>G
6	g.63788197A>G	CA364385373	EYS	c.7631T>C (p.Leu2544Pro) c.945T>C n.271T>C
6	g.63788197A>T	CA364385375	EYS	c.7631T>A (p.Leu2544His) c.945T>A n.271T>A
6	g.63788198G>A	CA364385378	EYS	c.7630C>T (p.Leu2544Phe) c.944C>T n.270C>T	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.63788198G>C	CA364385380	EYS	c.7630C>G (p.Leu2544Val) c.944C>G n.270C>G	dbSNP gnomAD v3 gnomAD v4
6	g.63788198G=	CA1633415723	EYS	c.7630C= (p.Leu2544=) c.944C= n.270C=
6	g.63788198G>T	CA364385382	EYS	c.7630C>A (p.Leu2544Ile) c.944C>A n.270C>A
6	g.63788199A>C	CA450742925	EYS	c.7629T>G (p.Gly2543=) c.943T>G n.269T>G
6	g.63788199A>G	CA450742926	EYS	c.7629T>C (p.Gly2543=) c.943T>C n.269T>C
6	g.63788199A>T	CA450742928	EYS	c.7629T>A (p.Gly2543=) c.943T>A n.269T>A
6	g.63788200C>A	CA364385388	EYS	c.7628G>T (p.Gly2543Val) c.942G>T n.268G>T
6	g.63788200C>G	CA364385390	EYS	c.7628G>C (p.Gly2543Ala) c.942G>C n.268G>C
6	g.63788200C>T	CA364385385	EYS	c.7628G>A (p.Gly2543Asp) c.942G>A n.268G>A	gnomAD v4
6	g.63788201del	CA2771459616	EYS	c.7628del (p.Gly2543ValfsTer10) c.942del n.268del
6	g.63788201C>A	CA364385394	EYS	c.7627G>T (p.Gly2543Cys) c.941G>T n.267G>T	dbSNP COSMIC
6	g.63788201C=	CA1633415724	EYS	c.7627G= (p.Gly2543=) c.941G= n.267G=
6	g.63788201C>G	CA364385396	EYS	c.7627G>C (p.Gly2543Arg) c.941G>C n.267G>C
6	g.63788201C>T	CA364385397	EYS	c.7627G>A (p.Gly2543Ser) c.941G>A n.267G>A	ClinVar dbSNP
6	g.63788202A>C	CA450742945	EYS	c.7626T>G (p.Val2542=) c.940T>G n.266T>G
6	g.63788202A>G	CA450742947	EYS	c.7626T>C (p.Val2542=) c.940T>C n.266T>C
6	g.63788202A>T	CA450742949	EYS	c.7626T>A (p.Val2542=) c.940T>A n.266T>A
6	g.63788203A=	CA1633415725	EYS	c.7625T= (p.Val2542=) c.939T= n.265T=
6	g.63788203A>C	CA364385401	EYS	c.7625T>G (p.Val2542Gly) c.939T>G n.265T>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.63788203A>G	CA364385403	EYS	c.7625T>C (p.Val2542Ala) c.939T>C n.265T>C
6	g.63788203A>T	CA364385406	EYS	c.7625T>A (p.Val2542Asp) c.939T>A n.265T>A
6	g.63788204C>A	CA364385409	EYS	c.7624G>T (p.Val2542Phe) c.938G>T n.264G>T	ClinVar dbSNP
6	g.63788204C>G	CA364385414	EYS	c.7624G>C (p.Val2542Leu) c.938G>C n.264G>C
6	g.63788204C>T	CA364385411	EYS	c.7624G>A (p.Val2542Ile) c.938G>A n.264G>A	gnomAD v4 COSMIC
6	g.63788205del	CA2580075616	EYS	c.7624del (p.Val2542LeufsTer11) c.938del n.264del	ClinVar
6	g.63788205C>A	CA450742959	EYS	c.7623G>T (p.Leu2541=) c.937G>T n.263G>T	gnomAD v4
6	g.63788205C>G	CA450742962	EYS	c.7623G>C (p.Leu2541=) c.937G>C n.263G>C
6	g.63788205C>T	CA450742958	EYS	c.7623G>A (p.Leu2541=) c.937G>A n.263G>A	gnomAD v4
6	g.63788206A=	CA1633415726	EYS	c.7622T= (p.Leu2541=) c.936T= n.262T=
6	g.63788206A>C	CA364385417	EYS	c.7622T>G (p.Leu2541Arg) c.936T>G n.262T>G
6	g.63788206A>G	CA364385418	EYS	c.7622T>C (p.Leu2541Pro) c.936T>C n.262T>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.63788206A>T	CA364385420	EYS	c.7622T>A (p.Leu2541Gln) c.936T>A n.262T>A
6	g.63788207G>A	CA450742967	EYS	c.7621C>T (p.Leu2541=) c.935C>T n.261C>T
6	g.63788207G>C	CA364385422	EYS	c.7621C>G (p.Leu2541Val) c.935C>G n.261C>G
6	g.63788207G>T	CA364385424	EYS	c.7621C>A (p.Leu2541Met) c.935C>A n.261C>A
6	g.63788208T>A	CA364385437	EYS	c.7620A>T (p.Arg2540Ser) c.934A>T n.260A>T	gnomAD v4
6	g.63788208T>C	CA450742970	EYS	c.7620A>G (p.Arg2540=) c.934A>G n.260A>G
6	g.63788208T>G	CA10624512	EYS	c.7620A>C (p.Arg2540Ser) c.934A>C n.260A>C	ClinVar dbSNP
6	g.63788208T=	CA1633415727	EYS	c.7620A= (p.Arg2540=) c.934A= n.260A=
6	g.63788209C>A	CA364385443	EYS	c.7619G>T (p.Arg2540Ile) c.933G>T n.259G>T
6	g.63788209C>G	CA364385447	EYS	c.7619G>C (p.Arg2540Thr) c.933G>C n.259G>C
6	g.63788209C>T	CA364385444	EYS	c.7619G>A (p.Arg2540Lys) c.933G>A n.259G>A	gnomAD v4
6	g.63788210T>A	CA364385449	EYS	c.7618A>T (p.Arg2540Ter) c.932A>T n.258A>T
6	g.63788210T>C	CA364385451	EYS	c.7618A>G (p.Arg2540Gly) c.932A>G n.258A>G	COSMIC
6	g.63788210T>G	CA450742979	EYS	c.7618A>C (p.Arg2540=) c.932A>C n.258A>C
6	g.63788211T>A	CA450742982	EYS	c.7617A>T (p.Gly2539=) c.931A>T n.257A>T
6	g.63788211T>C	CA450742984	EYS	c.7617A>G (p.Gly2539=) c.931A>G n.257A>G	ClinVar dbSNP
6	g.63788211T>G	CA450742981	EYS	c.7617A>C (p.Gly2539=) c.931A>C n.257A>C
6	g.63788211T=	CA1633415729	EYS	c.7617A= (p.Gly2539=) c.931A= n.257A=
6	g.63788211_63788212delinsTC	CA1633415728	EYS	c.7616_7617delinsGA (p.Gly2539=) c.930_931delinsGA n.256_257delinsGA
6	g.63788212C>A	CA364385453	EYS	c.7616G>T (p.Gly2539Val) c.930G>T n.256G>T	gnomAD v4
6	g.63788212C=	CA1633415730	EYS	c.7616G= (p.Gly2539=) c.930G= n.256G=
6	g.63788212C>G	CA364385455	EYS	c.7616G>C (p.Gly2539Ala) c.930G>C n.256G>C	dbSNP gnomAD v4
6	g.63788212C>T	CA364385457	EYS	c.7616G>A (p.Gly2539Glu) c.930G>A n.256G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.63788213del	CA826975955	EYS	c.7616del (p.Gly2539GlufsTer14) c.930del n.256del	dbSNP
6	g.63788213C>A	CA364385460	EYS	c.7615G>T (p.Gly2539Ter) c.929G>T n.255G>T
6	g.63788213C>G	CA364385462	EYS	c.7615G>C (p.Gly2539Arg) c.929G>C n.255G>C
6	g.63788213C>T	CA364385464	EYS	c.7615G>A (p.Gly2539Arg) c.929G>A n.255G>A
6	g.63788214T>A	CA450742993	EYS	c.7614A>T (p.Pro2538=) c.928A>T n.254A>T
6	g.63788214T>C	CA450742994	EYS	c.7614A>G (p.Pro2538=) c.928A>G n.254A>G
6	g.63788214T>G	CA450742996	EYS	c.7614A>C (p.Pro2538=) c.928A>C n.254A>C
6	g.63788215G>A	CA364385467	EYS	c.7613C>T (p.Pro2538Leu) c.927C>T n.253C>T
6	g.63788215G>C	CA364385469	EYS	c.7613C>G (p.Pro2538Arg) c.927C>G n.253C>G
6	g.63788215G=	CA1633415731	EYS	c.7613C= (p.Pro2538=) c.927C= n.253C=
6	g.63788215G>T	CA364385471	EYS	c.7613C>A (p.Pro2538Gln) c.927C>A n.253C>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.63788218del	CA2695206599	EYS	c.7613del (p.Pro2538GlnfsTer15) c.927del n.253del
6	g.63788216G>A	CA364385479	EYS	c.7612C>T (p.Pro2538Ser) c.926C>T n.252C>T	gnomAD v4 COSMIC
6	g.63788216G>C	CA364385473	EYS	c.7612C>G (p.Pro2538Ala) c.926C>G n.252C>G
6	g.63788216G>T	CA364385475	EYS	c.7612C>A (p.Pro2538Thr) c.926C>A n.252C>A
6	g.63788217G>A	CA450743002	EYS	c.7611C>T (p.Ala2537=) c.925C>T n.251C>T	ClinVar dbSNP
6	g.63788217G>C	CA450743003	EYS	c.7611C>G (p.Ala2537=) c.925C>G n.251C>G
6	g.63788217G=	CA1633415732	EYS	c.7611C= (p.Ala2537=) c.925C= n.251C=
6	g.63788217G>T	CA450743004	EYS	c.7611C>A (p.Ala2537=) c.925C>A n.251C>A
6	g.63788218G>A	CA364385480	EYS	c.7610C>T (p.Ala2537Val) c.924C>T n.250C>T	ClinVar dbSNP gnomAD v4
6	g.63788218G>C	CA364385481	EYS	c.7610C>G (p.Ala2537Gly) c.924C>G n.250C>G	gnomAD v4
6	g.63788218G=	CA1633415733	EYS	c.7610C= (p.Ala2537=) c.924C= n.250C=
6	g.63788218G>T	CA364385482	EYS	c.7610C>A (p.Ala2537Asp) c.924C>A n.250C>A
6	g.63788219C>A	CA364385483	EYS	c.7609G>T (p.Ala2537Ser) c.923G>T n.249G>T	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.63788219C=	CA1633415734	EYS	c.7609G= (p.Ala2537=) c.923G= n.249G=
6	g.63788219C>G	CA364385484	EYS	c.7609G>C (p.Ala2537Pro) c.923G>C n.249G>C
6	g.63788219C>T	CA3876792	EYS	c.7609G>A (p.Ala2537Thr) c.923G>A n.249G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.63788220G>A	CA3876793	EYS	c.7608C>T (p.Ile2536=) c.922C>T n.248C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6	g.63788220G>C	CA364385485	EYS	c.7608C>G (p.Ile2536Met) c.922C>G n.248C>G
6	g.63788220G=	CA1633415735	EYS	c.7608C= (p.Ile2536=) c.922C= n.248C=
6	g.63788220G>T	CA450743012	EYS	c.7608C>A (p.Ile2536=) c.922C>A n.248C>A
6	g.63788221A>C	CA364385486	EYS	c.7607T>G (p.Ile2536Ser) c.921T>G n.247T>G
6	g.63788221A>G	CA364385487	EYS	c.7607T>C (p.Ile2536Thr) c.921T>C n.247T>C
6	g.63788221A>T	CA364385488	EYS	c.7607T>A (p.Ile2536Asn) c.921T>A n.247T>A
6	g.63788222T>A	CA364385490	EYS	c.7606A>T (p.Ile2536Phe) c.920A>T n.246A>T
6	g.63788222T>C	CA364385491	EYS	c.7606A>G (p.Ile2536Val) c.920A>G n.246A>G	gnomAD v4
6	g.63788222T>G	CA364385489	EYS	c.7606A>C (p.Ile2536Leu) c.920A>C n.246A>C
6	g.63788223A>C	CA364385492	EYS	c.7605T>G (p.Ile2535Met) c.919T>G n.245T>G
6	g.63788223A>G	CA450743022	EYS	c.7605T>C (p.Ile2535=) c.919T>C n.245T>C
6	g.63788223A>T	CA450743021	EYS	c.7605T>A (p.Ile2535=) c.919T>A n.245T>A
6	g.63788224A>C	CA364385493	EYS	c.7604T>G (p.Ile2535Ser) c.918T>G n.244T>G
6	g.63788224A>G	CA364385494	EYS	c.7604T>C (p.Ile2535Thr) c.918T>C n.244T>C
6	g.63788224A>T	CA364385495	EYS	c.7604T>A (p.Ile2535Asn) c.918T>A n.244T>A
6	g.63788225T>A	CA364385496	EYS	c.7603A>T (p.Ile2535Phe) c.917A>T n.243A>T
6	g.63788225T>C	CA364385497	EYS	c.7603A>G (p.Ile2535Val) c.917A>G n.243A>G	dbSNP gnomAD v2 gnomAD v4
6	g.63788225T>G	CA364385498	EYS	c.7603A>C (p.Ile2535Leu) c.917A>C n.243A>C
6	g.63788225T=	CA1633415736	EYS	c.7603A= (p.Ile2535=) c.917A= n.243A=
6	g.63788226G>A	CA450743031	EYS	c.7602C>T (p.Ser2534=) c.916C>T n.242C>T
6	g.63788226G>C	CA450743032	EYS	c.7602C>G (p.Ser2534=) c.916C>G n.242C>G	ClinVar
6	g.63788226G>T	CA450743034	EYS	c.7602C>A (p.Ser2534=) c.916C>A n.242C>A	ClinVar
6	g.63788227G>A	CA364385499	EYS	c.7601C>T (p.Ser2534Phe) c.915C>T n.241C>T
6	g.63788227G>C	CA364385500	EYS	c.7601C>G (p.Ser2534Cys) c.915C>G n.241C>G
6	g.63788227G>T	CA364385502	EYS	c.7601C>A (p.Ser2534Tyr) c.915C>A n.241C>A	gnomAD v4
6	g.63788228A=	CA1633415737	EYS	c.7600T= (p.Ser2534=) c.914T= n.240T=
6	g.63788228A>C	CA364385503	EYS	c.7600T>G (p.Ser2534Ala) c.914T>G n.240T>G
6	g.63788228A>G	CA364385504	EYS	c.7600T>C (p.Ser2534Pro) c.914T>C n.240T>C	dbSNP gnomAD v3 gnomAD v4
6	g.63788228A>T	CA364385505	EYS	c.7600T>A (p.Ser2534Thr) c.914T>A n.240T>A
6	g.63788229T>A	CA364385506	EYS	c.7599A>T (p.Lys2533Asn) c.913A>T n.239A>T
6	g.63788229T>C	CA450743043	EYS	c.7599A>G (p.Lys2533=) c.913A>G n.239A>G
6	g.63788229T>G	CA140243941	EYS	c.7599A>C (p.Lys2533Asn) c.913A>C n.239A>C	dbSNP gnomAD v4
6	g.63788229T=	CA1633415738	EYS	c.7599A= (p.Lys2533=) c.913A= n.239A=
6	g.63788231del	CA2679298333	EYS	c.7599del (p.Lys2533AsnfsTer20) c.913del n.239del	gnomAD v4
6	g.63788230T>A	CA364385507	EYS	c.7598A>T (p.Lys2533Ile) c.912A>T n.238A>T
6	g.63788230T>C	CA364385508	EYS	c.7598A>G (p.Lys2533Arg) c.912A>G n.238A>G
6	g.63788230T>G	CA364385509	EYS	c.7598A>C (p.Lys2533Thr) c.912A>C n.238A>C
6	g.63788231T>A	CA364385510	EYS	c.7597A>T (p.Lys2533Ter) c.911A>T n.237A>T	ClinVar dbSNP
6	g.63788231T>C	CA3876794	EYS	c.7597A>G (p.Lys2533Glu) c.911A>G n.237A>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.63788231T>G	CA364385511	EYS	c.7597A>C (p.Lys2533Gln) c.911A>C n.237A>C
6	g.63788231T=	CA1633415739	EYS	c.7597A= (p.Lys2533=) c.911A= n.237A=
6	g.63788232A>C	CA364385512	EYS	c.7596T>G (p.Asn2532Lys) c.910T>G n.236T>G
6	g.63788232A>G	CA450743052	EYS	c.7596T>C (p.Asn2532=) c.910T>C n.236T>C	ClinVar dbSNP
6	g.63788232A>T	CA364385513	EYS	c.7596T>A (p.Asn2532Lys) c.910T>A n.236T>A
6	g.63788233T>A	CA364385514	EYS	c.7595A>T (p.Asn2532Ile) c.909A>T n.235A>T
6	g.63788233T>C	CA364385515	EYS	c.7595A>G (p.Asn2532Ser) c.909A>G n.235A>G
6	g.63788233T>G	CA364385516	EYS	c.7595A>C (p.Asn2532Thr) c.909A>C n.235A>C
6	g.63788234T>A	CA364385517	EYS	c.7594A>T (p.Asn2532Tyr) c.908A>T n.234A>T
6	g.63788234T>C	CA364385518	EYS	c.7594A>G (p.Asn2532Asp) c.908A>G n.234A>G
6	g.63788234T>G	CA3876795	EYS	c.7594A>C (p.Asn2532His) c.908A>C n.234A>C	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.63788234T=	CA1633415740	EYS	c.7594A= (p.Asn2532=) c.908A= n.234A=
6	g.63788235T>A	CA364385520	EYS	c.7593A>T (p.Lys2531Asn) c.907A>T n.233A>T
6	g.63788235T>C	CA450743060	EYS	c.7593A>G (p.Lys2531=) c.907A>G n.233A>G
6	g.63788235T>G	CA364385519	EYS	c.7593A>C (p.Lys2531Asn) c.907A>C n.233A>C
6	g.63788236T>A	CA364385521	EYS	c.7592A>T (p.Lys2531Ile) c.906A>T n.232A>T
6	g.63788236T>C	CA364385523	EYS	c.7592A>G (p.Lys2531Arg) c.906A>G n.232A>G	gnomAD v4
6	g.63788236T>G	CA364385522	EYS	c.7592A>C (p.Lys2531Thr) c.906A>C n.232A>C
6	g.63788237T>A	CA364385524	EYS	c.7591A>T (p.Lys2531Ter) c.905A>T n.231A>T
6	g.63788237T>C	CA140243942	EYS	c.7591A>G (p.Lys2531Glu) c.905A>G n.231A>G	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.63788237T>G	CA364385525	EYS	c.7591A>C (p.Lys2531Gln) c.905A>C n.231A>C	dbSNP gnomAD v4
6	g.63788237T=	CA1633415741	EYS	c.7591A= (p.Lys2531=) c.905A= n.231A=
6	g.63788238A=	CA1633415742	EYS	c.7590T= (p.His2530=) c.904T= n.230T=
6	g.63788238A>C	CA364385526	EYS	c.7590T>G (p.His2530Gln) c.904T>G n.230T>G	dbSNP
6	g.63788238A>G	CA450743071	EYS	c.7590T>C (p.His2530=) c.904T>C n.230T>C
6	g.63788238A>T	CA364385527	EYS	c.7590T>A (p.His2530Gln) c.904T>A n.230T>A	gnomAD v4
6	g.63788239T>A	CA364385528	EYS	c.7589A>T (p.His2530Leu) c.903A>T n.229A>T
6	g.63788239T>C	CA364385529	EYS	c.7589A>G (p.His2530Arg) c.903A>G n.229A>G
6	g.63788239T>G	CA364385530	EYS	c.7589A>C (p.His2530Pro) c.903A>C n.229A>C
6	g.63788240G>A	CA140243943	EYS	c.7588C>T (p.His2530Tyr) c.902C>T n.228C>T	dbSNP gnomAD v4
6	g.63788240G>C	CA364385531	EYS	c.7588C>G (p.His2530Asp) c.902C>G n.228C>G
6	g.63788240G=	CA1633415743	EYS	c.7588C= (p.His2530=) c.902C= n.228C=
6	g.63788240G>T	CA364385532	EYS	c.7588C>A (p.His2530Asn) c.902C>A n.228C>A
6	g.63788241A>C	CA364385533	EYS	c.7587T>G (p.Asp2529Glu) c.901T>G n.227T>G
6	g.63788241A>G	CA450743080	EYS	c.7587T>C (p.Asp2529=) c.901T>C n.227T>C
6	g.63788241A>T	CA364385534	EYS	c.7587T>A (p.Asp2529Glu) c.901T>A n.227T>A
6	g.63788242T>A	CA364385535	EYS	c.7586A>T (p.Asp2529Val) c.900A>T n.226A>T
6	g.63788242T>C	CA364385536	EYS	c.7586A>G (p.Asp2529Gly) c.900A>G n.226A>G
6	g.63788242T>G	CA364385537	EYS	c.7586A>C (p.Asp2529Ala) c.900A>C n.226A>C
6	g.63788243C>A	CA364385540	EYS	c.7585G>T (p.Asp2529Tyr) c.899G>T n.225G>T
6	g.63788243C=	CA1633415744	EYS	c.7585G= (p.Asp2529=) c.899G= n.225G=
6	g.63788243C>G	CA364385538	EYS	c.7585G>C (p.Asp2529His) c.899G>C n.225G>C	gnomAD v4
6	g.63788243C>T	CA364385539	EYS	c.7585G>A (p.Asp2529Asn) c.899G>A n.225G>A	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
6	g.63788244A>C	CA364385541	EYS	c.7584T>G (p.Asp2528Glu) c.898T>G n.224T>G
6	g.63788244A>G	CA450743090	EYS	c.7584T>C (p.Asp2528=) c.898T>C n.224T>C	gnomAD v4
6	g.63788244A>T	CA364385542	EYS	c.7584T>A (p.Asp2528Glu) c.898T>A n.224T>A
6	g.63788245del	CA2739273205	EYS	c.7583del (p.Asp2528ValfsTer25) c.897del n.223del	ClinVar
6	g.63788245T>A	CA364385543	EYS	c.7583A>T (p.Asp2528Val) c.897A>T n.223A>T
6	g.63788245T>C	CA364385544	EYS	c.7583A>G (p.Asp2528Gly) c.897A>G n.223A>G	dbSNP gnomAD v3 gnomAD v4
6	g.63788245T>G	CA364385545	EYS	c.7583A>C (p.Asp2528Ala) c.897A>C n.223A>C
6	g.63788245T=	CA1633415745	EYS	c.7583A= (p.Asp2528=) c.897A= n.223A=
6	g.63788246C>A	CA364385546	EYS	c.7582G>T (p.Asp2528Tyr) c.896G>T n.222G>T	gnomAD v4
6	g.63788246C>G	CA364385547	EYS	c.7582G>C (p.Asp2528His) c.896G>C n.222G>C
6	g.63788246C>T	CA364385548	EYS	c.7582G>A (p.Asp2528Asn) c.896G>A n.222G>A	COSMIC
6	g.63788247del	CA2771459623	EYS	c.7581del (p.Asp2528MetfsTer25) c.895del n.221del
6	g.63788247T>A	CA450743100	EYS	c.7581A>T (p.Val2527=) c.895A>T n.221A>T
6	g.63788247T>C	CA450743102	EYS	c.7581A>G (p.Val2527=) c.895A>G n.221A>G
6	g.63788247T>G	CA450743099	EYS	c.7581A>C (p.Val2527=) c.895A>C n.221A>C

Number of alleles fetched