Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.64591291A>C	CA364783020	EYS	c.4576T>G (p.Tyr1526Asp)
6	g.64591291A>G	CA364783018	EYS	c.4576T>C (p.Tyr1526His)
6	g.64591291A>T	CA364783019	EYS	c.4576T>A (p.Tyr1526Asn)
6	g.64591292T>A	CA364783021	EYS	c.4575A>T (p.Glu1525Asp)
6	g.64591292T>C	CA450863633	EYS	c.4575A>G (p.Glu1525=)	gnomAD v4
6	g.64591292T>G	CA364783022	EYS	c.4575A>C (p.Glu1525Asp)	dbSNP
6	g.64591292T=	CA1633809341	EYS	c.4575A= (p.Glu1525=)
6	g.64591293T>A	CA364783023	EYS	c.4574A>T (p.Glu1525Val)
6	g.64591293T>C	CA364783024	EYS	c.4574A>G (p.Glu1525Gly)
6	g.64591293T>G	CA364783025	EYS	c.4574A>C (p.Glu1525Ala)
6	g.64591294C>A	CA364783028	EYS	c.4573G>T (p.Glu1525Ter)	dbSNP
6	g.64591294C>G	CA364783027	EYS	c.4573G>C (p.Glu1525Gln)
6	g.64591294C>T	CA364783026	EYS	c.4573G>A (p.Glu1525Lys)	gnomAD v4
6	g.64591295A=	CA1633809342	EYS	c.4572T= (p.Ser1524=)
6	g.64591295A>C	CA364783029	EYS	c.4572T>G (p.Ser1524Arg)
6	g.64591295A>G	CA450863638	EYS	c.4572T>C (p.Ser1524=)	dbSNP gnomAD v2 gnomAD v4
6	g.64591295A>T	CA364783030	EYS	c.4572T>A (p.Ser1524Arg)
6	g.64591296C>A	CA364783031	EYS	c.4571G>T (p.Ser1524Ile)
6	g.64591296C>G	CA364783032	EYS	c.4571G>C (p.Ser1524Thr)
6	g.64591296C>T	CA364783033	EYS	c.4571G>A (p.Ser1524Asn)
6	g.64591297T>A	CA364783034	EYS	c.4570A>T (p.Ser1524Cys)	gnomAD v4
6	g.64591297T>C	CA364783035	EYS	c.4570A>G (p.Ser1524Gly)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64591297T>G	CA364783036	EYS	c.4570A>C (p.Ser1524Arg)
6	g.64591297T=	CA1633809343	EYS	c.4570A= (p.Ser1524=)
6	g.64591298G>A	CA450863642	EYS	c.4569C>T (p.Pro1523=)
6	g.64591298G>C	CA450863643	EYS	c.4569C>G (p.Pro1523=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64591298G=	CA1633809344	EYS	c.4569C= (p.Pro1523=)
6	g.64591298G>T	CA450863645	EYS	c.4569C>A (p.Pro1523=)	gnomAD v4
6	g.64591299G>A	CA364783037	EYS	c.4568C>T (p.Pro1523Leu)	ClinVar dbSNP
6	g.64591299G>C	CA364783038	EYS	c.4568C>G (p.Pro1523Arg)
6	g.64591299G>T	CA364783039	EYS	c.4568C>A (p.Pro1523His)	dbSNP
6	g.64591300G>A	CA364783040	EYS	c.4567C>T (p.Pro1523Ser)	gnomAD v4
6	g.64591300G>C	CA364783041	EYS	c.4567C>G (p.Pro1523Ala)
6	g.64591300G>T	CA364783042	EYS	c.4567C>A (p.Pro1523Thr)
6	g.64591301A>C	CA364783044	EYS	c.4566T>G (p.Asn1522Lys)	gnomAD v4
6	g.64591301A>G	CA450863650	EYS	c.4566T>C (p.Asn1522=)
6	g.64591301A>T	CA364783043	EYS	c.4566T>A (p.Asn1522Lys)
6	g.64591302T>A	CA364783045	EYS	c.4565A>T (p.Asn1522Ile)
6	g.64591302T>C	CA3877068	EYS	c.4565A>G (p.Asn1522Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64591302T>G	CA364783046	EYS	c.4565A>C (p.Asn1522Thr)
6	g.64591302T=	CA1633809345	EYS	c.4565A= (p.Asn1522=)
6	g.64591303T>A	CA364783047	EYS	c.4564A>T (p.Asn1522Tyr)
6	g.64591303T>C	CA364783048	EYS	c.4564A>G (p.Asn1522Asp)
6	g.64591303T>G	CA364783049	EYS	c.4564A>C (p.Asn1522His)
6	g.64591304G>A	CA450863654	EYS	c.4563C>T (p.Phe1521=)
6	g.64591304G>C	CA364783050	EYS	c.4563C>G (p.Phe1521Leu)
6	g.64591304G=	CA1633809346	EYS	c.4563C= (p.Phe1521=)
6	g.64591304G>T	CA364783051	EYS	c.4563C>A (p.Phe1521Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64591305A>C	CA364783052	EYS	c.4562T>G (p.Phe1521Cys)
6	g.64591305A>G	CA364783053	EYS	c.4562T>C (p.Phe1521Ser)
6	g.64591305A>T	CA364783054	EYS	c.4562T>A (p.Phe1521Tyr)
6	g.64591306A>C	CA364783055	EYS	c.4561T>G (p.Phe1521Val)
6	g.64591306A>G	CA364783056	EYS	c.4561T>C (p.Phe1521Leu)
6	g.64591306A>T	CA364783057	EYS	c.4561T>A (p.Phe1521Ile)
6	g.64591307G>A	CA450863656	EYS	c.4560C>T (p.Ala1520=)
6	g.64591307G>C	CA450863657	EYS	c.4560C>G (p.Ala1520=)
6	g.64591307G>T	CA450863658	EYS	c.4560C>A (p.Ala1520=)	gnomAD v4
6	g.64591308G>A	CA364783059	EYS	c.4559C>T (p.Ala1520Val)
6	g.64591308G>C	CA3877069	EYS	c.4559C>G (p.Ala1520Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64591308G=	CA1633809347	EYS	c.4559C= (p.Ala1520=)
6	g.64591308G>T	CA364783058	EYS	c.4559C>A (p.Ala1520Asp)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.64591309C>A	CA364783060	EYS	c.4558G>T (p.Ala1520Ser)
6	g.64591309C>G	CA364783061	EYS	c.4558G>C (p.Ala1520Pro)	gnomAD v4
6	g.64591309C>T	CA364783062	EYS	c.4558G>A (p.Ala1520Thr)
6	g.64591309_64591310delinsCT	CA1633809348	EYS	c.4557_4558delinsAG (p.Lys1519=)
6	g.64591310T>A	CA364783063	EYS	c.4557A>T (p.Lys1519Asn)
6	g.64591310T>C	CA450862792	EYS	c.4557A>G (p.Lys1519=)
6	g.64591310T>G	CA364783064	EYS	c.4557A>C (p.Lys1519Asn)
6	g.64591313del	CA3877070	EYS	c.4557del (p.Ala1520ProfsTer?)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.64591311T>A	CA364783065	EYS	c.4556A>T (p.Lys1519Ile)
6	g.64591311T>C	CA364783066	EYS	c.4556A>G (p.Lys1519Arg)
6	g.64591311T>G	CA364783067	EYS	c.4556A>C (p.Lys1519Thr)
6	g.64591312T>A	CA364783068	EYS	c.4555A>T (p.Lys1519Ter)
6	g.64591312T>C	CA364783069	EYS	c.4555A>G (p.Lys1519Glu)	gnomAD v4
6	g.64591312T>G	CA364783070	EYS	c.4555A>C (p.Lys1519Gln)
6	g.64591313T>A	CA450862799	EYS	c.4554A>T (p.Thr1518=)
6	g.64591313T>C	CA450862800	EYS	c.4554A>G (p.Thr1518=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.64591313T>G	CA3877071	EYS	c.4554A>C (p.Thr1518=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64591313T=	CA1633809349	EYS	c.4554A= (p.Thr1518=)
6	g.64591314G>A	CA364783073	EYS	c.4553C>T (p.Thr1518Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.64591314G>C	CA364783072	EYS	c.4553C>G (p.Thr1518Arg)
6	g.64591314G=	CA1633809350	EYS	c.4553C= (p.Thr1518=)
6	g.64591314G>T	CA364783071	EYS	c.4553C>A (p.Thr1518Lys)
6	g.64591315T>A	CA364783074	EYS	c.4552A>T (p.Thr1518Ser)
6	g.64591315T>C	CA364783075	EYS	c.4552A>G (p.Thr1518Ala)
6	g.64591315T>G	CA364783076	EYS	c.4552A>C (p.Thr1518Pro)
6	g.64591316A>C	CA364783077	EYS	c.4551T>G (p.Ser1517Arg)
6	g.64591316A>G	CA450862810	EYS	c.4551T>C (p.Ser1517=)
6	g.64591316A>T	CA364783078	EYS	c.4551T>A (p.Ser1517Arg)	gnomAD v4
6	g.64591316dup	CA2679284674	EYS	c.4551dup (p.Thr1518TyrfsTer8)	gnomAD v4
6	g.64591317C>A	CA364783079	EYS	c.4550G>T (p.Ser1517Ile)	gnomAD v4
6	g.64591317C>G	CA364783080	EYS	c.4550G>C (p.Ser1517Thr)
6	g.64591317C>T	CA364783081	EYS	c.4550G>A (p.Ser1517Asn)	gnomAD v4
6	g.64591318T>A	CA364783082	EYS	c.4549A>T (p.Ser1517Cys)
6	g.64591318T>C	CA147150	EYS	c.4549A>G (p.Ser1517Gly)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64591318T>G	CA364783083	EYS	c.4549A>C (p.Ser1517Arg)
6	g.64591318T=	CA1633809351	EYS	c.4549A= (p.Ser1517=)
6	g.64591319G>A	CA3877072	EYS	c.4548C>T (p.Phe1516=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6	g.64591319G>C	CA364783084	EYS	c.4548C>G (p.Phe1516Leu)
6	g.64591319G=	CA1633809352	EYS	c.4548C= (p.Phe1516=)
6	g.64591319G>T	CA364783085	EYS	c.4548C>A (p.Phe1516Leu)
6	g.64591320A>C	CA364783088	EYS	c.4547T>G (p.Phe1516Cys)
6	g.64591320A>G	CA364783087	EYS	c.4547T>C (p.Phe1516Ser)
6	g.64591320A>T	CA364783086	EYS	c.4547T>A (p.Phe1516Tyr)	gnomAD v4
6	g.64591321A>C	CA364783089	EYS	c.4546T>G (p.Phe1516Val)
6	g.64591321A>G	CA364783090	EYS	c.4546T>C (p.Phe1516Leu)	gnomAD v4
6	g.64591321A>T	CA364783091	EYS	c.4546T>A (p.Phe1516Ile)
6	g.64591322C>A	CA450862819	EYS	c.4545G>T (p.Arg1515=)	ClinVar
6	g.64591322C=	CA1633809353	EYS	c.4545G= (p.Arg1515=)
6	g.64591322C>G	CA450862818	EYS	c.4545G>C (p.Arg1515=)	ClinVar dbSNP
6	g.64591322C>T	CA450862817	EYS	c.4545G>A (p.Arg1515=)	ClinVar dbSNP gnomAD v2
6	g.64591323C>A	CA364783092	EYS	c.4544G>T (p.Arg1515Leu)	dbSNP gnomAD v3 gnomAD v4
6	g.64591323C=	CA1633809354	EYS	c.4544G= (p.Arg1515=)
6	g.64591323C>G	CA364783093	EYS	c.4544G>C (p.Arg1515Pro)
6	g.64591323C>T	CA364783094	EYS	c.4544G>A (p.Arg1515Gln)	dbSNP gnomAD v2 gnomAD v4
6	g.64591323_64591324delinsCG	CA1633809355	EYS	c.4543_4544delinsCG (p.Arg1515=)
6	g.64591324G>A	CA147147	EYS	c.4543C>T (p.Arg1515Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64591324G>C	CA364783095	EYS	c.4543C>G (p.Arg1515Gly)
6	g.64591324G=	CA1633809356	EYS	c.4543C= (p.Arg1515=)
6	g.64591324G>T	CA450862822	EYS	c.4543C>A (p.Arg1515=)	ClinVar
6	g.64591325del	CA1633809357	EYS	c.4543del (p.Arg1515GlyfsTer?)	dbSNP
6	g.64591325G>A	CA450862824	EYS	c.4542C>T (p.His1514=)	gnomAD v4
6	g.64591325G>C	CA364783096	EYS	c.4542C>G (p.His1514Gln)	gnomAD v4
6	g.64591325G=	CA1633809358	EYS	c.4542C= (p.His1514=)
6	g.64591325G>T	CA364783097	EYS	c.4542C>A (p.His1514Gln)	dbSNP
6	g.64591326T>A	CA364783098	EYS	c.4541A>T (p.His1514Leu)
6	g.64591326T>C	CA364783099	EYS	c.4541A>G (p.His1514Arg)	dbSNP gnomAD v2 gnomAD v4
6	g.64591326T>G	CA364783100	EYS	c.4541A>C (p.His1514Pro)
6	g.64591326T=	CA1633809359	EYS	c.4541A= (p.His1514=)
6	g.64591327G>A	CA364783103	EYS	c.4540C>T (p.His1514Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64591327G>C	CA364783102	EYS	c.4540C>G (p.His1514Asp)
6	g.64591327G=	CA1633809360	EYS	c.4540C= (p.His1514=)
6	g.64591327G>T	CA364783101	EYS	c.4540C>A (p.His1514Asn)
6	g.64591328C>A	CA450862828	EYS	c.4539G>T (p.Leu1513=)
6	g.64591328C>G	CA450862830	EYS	c.4539G>C (p.Leu1513=)
6	g.64591328C>T	CA450862829	EYS	c.4539G>A (p.Leu1513=)
6	g.64591329A>C	CA364783104	EYS	c.4538T>G (p.Leu1513Arg)
6	g.64591329A>G	CA364783105	EYS	c.4538T>C (p.Leu1513Pro)	gnomAD v4
6	g.64591329A>T	CA364783106	EYS	c.4538T>A (p.Leu1513Gln)
6	g.64591330G>A	CA450862832	EYS	c.4537C>T (p.Leu1513=)	ClinVar gnomAD v4
6	g.64591330G>C	CA364783107	EYS	c.4537C>G (p.Leu1513Val)	dbSNP gnomAD v2 gnomAD v4
6	g.64591330G=	CA1633809361	EYS	c.4537C= (p.Leu1513=)
6	g.64591330G>T	CA364783108	EYS	c.4537C>A (p.Leu1513Met)	dbSNP
6	g.64591331A>C	CA450862833	EYS	c.4536T>G (p.Ala1512=)
6	g.64591331A>G	CA450862834	EYS	c.4536T>C (p.Ala1512=)	ClinVar dbSNP gnomAD v4
6	g.64591331A>T	CA450862836	EYS	c.4536T>A (p.Ala1512=)
6	g.64591332G>A	CA364783109	EYS	c.4535C>T (p.Ala1512Val)	dbSNP gnomAD v2 gnomAD v4
6	g.64591332G>C	CA364783110	EYS	c.4535C>G (p.Ala1512Gly)
6	g.64591332G=	CA1633809362	EYS	c.4535C= (p.Ala1512=)
6	g.64591332G>T	CA364783111	EYS	c.4535C>A (p.Ala1512Asp)
6	g.64591333C>A	CA364783112	EYS	c.4534G>T (p.Ala1512Ser)
6	g.64591333C>G	CA364783113	EYS	c.4534G>C (p.Ala1512Pro)	gnomAD v4
6	g.64591333C>T	CA364783114	EYS	c.4534G>A (p.Ala1512Thr)	gnomAD v4
6	g.64591334T>A	CA450862838	EYS	c.4533A>T (p.Ser1511=)
6	g.64591334T>C	CA450862839	EYS	c.4533A>G (p.Ser1511=)
6	g.64591334T>G	CA450862840	EYS	c.4533A>C (p.Ser1511=)
6	g.64591335G>A	CA364783115	EYS	c.4532C>T (p.Ser1511Leu)
6	g.64591335G>C	CA364783116	EYS	c.4532C>G (p.Ser1511Ter)	ClinVar dbSNP gnomAD v4
6	g.64591335G>T	CA364783117	EYS	c.4532C>A (p.Ser1511Ter)	COSMIC
6	g.64591336A>C	CA364783119	EYS	c.4531T>G (p.Ser1511Ala)
6	g.64591336A>G	CA364783120	EYS	c.4531T>C (p.Ser1511Pro)
6	g.64591336A>T	CA364783118	EYS	c.4531T>A (p.Ser1511Thr)
6	g.64591337T>A	CA450862849	EYS	c.4530A>T (p.Ser1510=)	ClinVar dbSNP gnomAD v4
6	g.64591337T>C	CA450862846	EYS	c.4530A>G (p.Ser1510=)	ClinVar dbSNP
6	g.64591337T>G	CA450862848	EYS	c.4530A>C (p.Ser1510=)	ClinVar dbSNP gnomAD v4
6	g.64591337T=	CA1633809363	EYS	c.4530A= (p.Ser1510=)
6	g.64591338G>A	CA364783121	EYS	c.4529C>T (p.Ser1510Leu)	dbSNP gnomAD v4
6	g.64591338G>C	CA364783123	EYS	c.4529C>G (p.Ser1510Ter)
6	g.64591338G>T	CA364783122	EYS	c.4529C>A (p.Ser1510Ter)
6	g.64591339A=	CA1633809364	EYS	c.4528T= (p.Ser1510=)
6	g.64591339A>C	CA364783124	EYS	c.4528T>G (p.Ser1510Ala)	dbSNP
6	g.64591339A>G	CA364783125	EYS	c.4528T>C (p.Ser1510Pro)
6	g.64591339A>T	CA364783126	EYS	c.4528T>A (p.Ser1510Thr)
6	g.64591340G>A	CA450862853	EYS	c.4527C>T (p.Asn1509=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64591340G>C	CA364783127	EYS	c.4527C>G (p.Asn1509Lys)
6	g.64591340G=	CA1633809365	EYS	c.4527C= (p.Asn1509=)
6	g.64591340G>T	CA364783128	EYS	c.4527C>A (p.Asn1509Lys)
6	g.64591341T>A	CA364783129	EYS	c.4526A>T (p.Asn1509Ile)
6	g.64591341T>C	CA3877073	EYS	c.4526A>G (p.Asn1509Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64591341T>G	CA364783130	EYS	c.4526A>C (p.Asn1509Thr)
6	g.64591341T=	CA1633809366	EYS	c.4526A= (p.Asn1509=)
6	g.64591342T>A	CA364783131	EYS	c.4525A>T (p.Asn1509Tyr)
6	g.64591342T>C	CA364783132	EYS	c.4525A>G (p.Asn1509Asp)
6	g.64591342T>G	CA364783133	EYS	c.4525A>C (p.Asn1509His)
6	g.64591343T>A	CA364783134	EYS	c.4524A>T (p.Leu1508Phe)
6	g.64591343T>C	CA450862865	EYS	c.4524A>G (p.Leu1508=)
6	g.64591343T>G	CA364783135	EYS	c.4524A>C (p.Leu1508Phe)
6	g.64591344A>C	CA364783136	EYS	c.4523T>G (p.Leu1508Ter)	ClinVar gnomAD v4
6	g.64591344A>G	CA364783138	EYS	c.4523T>C (p.Leu1508Ser)
6	g.64591344A>T	CA364783137	EYS	c.4523T>A (p.Leu1508Ter)	ClinVar dbSNP
6	g.64591345A>C	CA364783139	EYS	c.4522T>G (p.Leu1508Val)
6	g.64591345A>G	CA450862868	EYS	c.4522T>C (p.Leu1508=)
6	g.64591345A>T	CA364783140	EYS	c.4522T>A (p.Leu1508Ile)
6	g.64591346G>A	CA450862871	EYS	c.4521C>T (p.Ile1507=)
6	g.64591346G>C	CA364783141	EYS	c.4521C>G (p.Ile1507Met)
6	g.64591346G>T	CA450862876	EYS	c.4521C>A (p.Ile1507=)
6	g.64591347A>C	CA364783142	EYS	c.4520T>G (p.Ile1507Ser)
6	g.64591347A>G	CA364783143	EYS	c.4520T>C (p.Ile1507Thr)	gnomAD v4
6	g.64591347A>T	CA364783144	EYS	c.4520T>A (p.Ile1507Asn)	gnomAD v4
6	g.64591348T>A	CA364783145	EYS	c.4519A>T (p.Ile1507Phe)
6	g.64591348T>C	CA364783146	EYS	c.4519A>G (p.Ile1507Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64591348T>G	CA364783147	EYS	c.4519A>C (p.Ile1507Leu)
6	g.64591348T=	CA1633809367	EYS	c.4519A= (p.Ile1507=)
6	g.64591348_64591349delinsTG	CA1633809368	EYS	c.4518_4519delinsCA (p.Thr1506=)
6	g.64591349G>A	CA3877074	EYS	c.4518C>T (p.Thr1506=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.64591349G>C	CA450862880	EYS	c.4518C>G (p.Thr1506=)	ClinVar dbSNP
6	g.64591349G=	CA1633809369	EYS	c.4518C= (p.Thr1506=)
6	g.64591349G>T	CA450862879	EYS	c.4518C>A (p.Thr1506=)
6	g.64591350del	CA916082867	EYS	c.4518del (p.Ile1507SerfsTer2)	ClinVar dbSNP
6	g.64591350G>A	CA364783150	EYS	c.4517C>T (p.Thr1506Ile)	dbSNP gnomAD v2 gnomAD v4
6	g.64591350G>C	CA364783149	EYS	c.4517C>G (p.Thr1506Ser)
6	g.64591350G=	CA1633809370	EYS	c.4517C= (p.Thr1506=)
6	g.64591350G>T	CA364783148	EYS	c.4517C>A (p.Thr1506Asn)
6	g.64591351T>A	CA364783151	EYS	c.4516A>T (p.Thr1506Ser)
6	g.64591351T>C	CA364783152	EYS	c.4516A>G (p.Thr1506Ala)
6	g.64591351T>G	CA364783153	EYS	c.4516A>C (p.Thr1506Pro)
6	g.64591352T>A	CA450862882	EYS	c.4515A>T (p.Val1505=)
6	g.64591352T>C	CA450862883	EYS	c.4515A>G (p.Val1505=)	ClinVar
6	g.64591352T>G	CA450862885	EYS	c.4515A>C (p.Val1505=)
6	g.64591353A=	CA1633809371	EYS	c.4514T= (p.Val1505=)
6	g.64591353A>C	CA364783154	EYS	c.4514T>G (p.Val1505Gly)
6	g.64591353A>G	CA140340941	EYS	c.4514T>C (p.Val1505Ala)	dbSNP gnomAD v3 gnomAD v4
6	g.64591353A>T	CA364783155	EYS	c.4514T>A (p.Val1505Glu)
6	g.64591354C>A	CA364783158	EYS	c.4513G>T (p.Val1505Leu)
6	g.64591354C>G	CA364783156	EYS	c.4513G>C (p.Val1505Leu)
6	g.64591354C>T	CA364783157	EYS	c.4513G>A (p.Val1505Ile)
6	g.64591355C>A	CA364783159	EYS	c.4512G>T (p.Gln1504His)
6	g.64591355C>G	CA364783160	EYS	c.4512G>C (p.Gln1504His)
6	g.64591355C>T	CA450862889	EYS	c.4512G>A (p.Gln1504=)	COSMIC
6	g.64591356T>A	CA364783161	EYS	c.4511A>T (p.Gln1504Leu)
6	g.64591356T>C	CA364783162	EYS	c.4511A>G (p.Gln1504Arg)
6	g.64591356T>G	CA364783163	EYS	c.4511A>C (p.Gln1504Pro)	dbSNP
6	g.64591357G>A	CA364783164	EYS	c.4510C>T (p.Gln1504Ter)	gnomAD v4
6	g.64591357G>C	CA364783166	EYS	c.4510C>G (p.Gln1504Glu)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.64591357G=	CA1633809372	EYS	c.4510C= (p.Gln1504=)
6	g.64591357G>T	CA364783165	EYS	c.4510C>A (p.Gln1504Lys)
6	g.64591357_64591367del	CA2771478447	EYS	c.4500_4510del (p.Ile1501GlyfsTer21)
6	g.64591358T>A	CA364783167	EYS	c.4509A>T (p.Lys1503Asn)
6	g.64591358T>C	CA450862895	EYS	c.4509A>G (p.Lys1503=)
6	g.64591358T>G	CA364783168	EYS	c.4509A>C (p.Lys1503Asn)
6	g.64591359T>A	CA364783169	EYS	c.4508A>T (p.Lys1503Ile)
6	g.64591359T>C	CA364783170	EYS	c.4508A>G (p.Lys1503Arg)
6	g.64591359T>G	CA364783171	EYS	c.4508A>C (p.Lys1503Thr)	dbSNP gnomAD v3 gnomAD v4
6	g.64591359T=	CA1633809373	EYS	c.4508A= (p.Lys1503=)
6	g.64591360T>A	CA364783172	EYS	c.4507A>T (p.Lys1503Ter)
6	g.64591360T>C	CA364783173	EYS	c.4507A>G (p.Lys1503Glu)	gnomAD v4
6	g.64591360T>G	CA364783174	EYS	c.4507A>C (p.Lys1503Gln)
6	g.64591361A>C	CA450862903	EYS	c.4506T>G (p.Ser1502=)
6	g.64591361A>G	CA450862905	EYS	c.4506T>C (p.Ser1502=)
6	g.64591361A>T	CA450862906	EYS	c.4506T>A (p.Ser1502=)
6	g.64591362G>A	CA364783175	EYS	c.4505C>T (p.Ser1502Phe)
6	g.64591362G>C	CA364783176	EYS	c.4505C>G (p.Ser1502Cys)
6	g.64591362G>T	CA364783177	EYS	c.4505C>A (p.Ser1502Tyr)
6	g.64591363A>C	CA364783180	EYS	c.4504T>G (p.Ser1502Ala)
6	g.64591363A>G	CA364783178	EYS	c.4504T>C (p.Ser1502Pro)
6	g.64591363A>T	CA364783179	EYS	c.4504T>A (p.Ser1502Thr)
6	g.64591364T>A	CA450862915	EYS	c.4503A>T (p.Ile1501=)
6	g.64591364T>C	CA3877075	EYS	c.4503A>G (p.Ile1501Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.64591364T>G	CA450862914	EYS	c.4503A>C (p.Ile1501=)
6	g.64591364T=	CA1633809374	EYS	c.4503A= (p.Ile1501=)
6	g.64591365A>C	CA364783181	EYS	c.4502T>G (p.Ile1501Arg)
6	g.64591365A>G	CA364783182	EYS	c.4502T>C (p.Ile1501Thr)	ClinVar gnomAD v4
6	g.64591365A>T	CA364783183	EYS	c.4502T>A (p.Ile1501Lys)
6	g.64591366T>A	CA364783184	EYS	c.4501A>T (p.Ile1501Leu)
6	g.64591366T>C	CA364783185	EYS	c.4501A>G (p.Ile1501Val)
6	g.64591366T>G	CA364783186	EYS	c.4501A>C (p.Ile1501Leu)
6	g.64591367A>C	CA364783187	EYS	c.4500T>G (p.Ile1500Met)
6	g.64591367A>G	CA450862922	EYS	c.4500T>C (p.Ile1500=)
6	g.64591367A>T	CA450862923	EYS	c.4500T>A (p.Ile1500=)
6	g.64591368A>C	CA364783188	EYS	c.4499T>G (p.Ile1500Ser)
6	g.64591368A>G	CA364783189	EYS	c.4499T>C (p.Ile1500Thr)
6	g.64591368A>T	CA364783190	EYS	c.4499T>A (p.Ile1500Asn)
6	g.64591369T>A	CA364783191	EYS	c.4498A>T (p.Ile1500Phe)
6	g.64591369T>C	CA364783192	EYS	c.4498A>G (p.Ile1500Val)
6	g.64591369T>G	CA364783193	EYS	c.4498A>C (p.Ile1500Leu)
6	g.64591370T>A	CA450862931	EYS	c.4497A>T (p.Val1499=)
6	g.64591370T>C	CA450862932	EYS	c.4497A>G (p.Val1499=)	gnomAD v4
6	g.64591370T>G	CA450862933	EYS	c.4497A>C (p.Val1499=)	dbSNP
6	g.64591370T=	CA1633809375	EYS	c.4497A= (p.Val1499=)
6	g.64591371A>C	CA364783196	EYS	c.4496T>G (p.Val1499Gly)
6	g.64591371A>G	CA364783195	EYS	c.4496T>C (p.Val1499Ala)	COSMIC
6	g.64591371A>T	CA364783194	EYS	c.4496T>A (p.Val1499Glu)
6	g.64591372C>A	CA364783197	EYS	c.4495G>T (p.Val1499Leu)	ClinVar
6	g.64591372C=	CA1633809376	EYS	c.4495G= (p.Val1499=)
6	g.64591372C>G	CA364783198	EYS	c.4495G>C (p.Val1499Leu)
6	g.64591372C>T	CA140340942	EYS	c.4495G>A (p.Val1499Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.64591373C>A	CA364783199	EYS	c.4494G>T (p.Lys1498Asn)
6	g.64591373C>G	CA364783200	EYS	c.4494G>C (p.Lys1498Asn)
6	g.64591373C>T	CA450862940	EYS	c.4494G>A (p.Lys1498=)	gnomAD v4
6	g.64591374T>A	CA364783201	EYS	c.4493A>T (p.Lys1498Met)
6	g.64591374T>C	CA364783202	EYS	c.4493A>G (p.Lys1498Arg)	dbSNP
6	g.64591374T>G	CA364783203	EYS	c.4493A>C (p.Lys1498Thr)
6	g.64591374T=	CA1633809377	EYS	c.4493A= (p.Lys1498=)
6	g.64591375T>A	CA364783204	EYS	c.4492A>T (p.Lys1498Ter)
6	g.64591375T>C	CA364783205	EYS	c.4492A>G (p.Lys1498Glu)
6	g.64591375T>G	CA364783206	EYS	c.4492A>C (p.Lys1498Gln)
6	g.64591376A>C	CA450862948	EYS	c.4491T>G (p.Ala1497=)
6	g.64591376A>G	CA450862949	EYS	c.4491T>C (p.Ala1497=)
6	g.64591376A>T	CA450862950	EYS	c.4491T>A (p.Ala1497=)
6	g.64591377G>A	CA364783207	EYS	c.4490C>T (p.Ala1497Val)
6	g.64591377G>C	CA364783208	EYS	c.4490C>G (p.Ala1497Gly)
6	g.64591377G>T	CA364783209	EYS	c.4490C>A (p.Ala1497Asp)
6	g.64591378C>A	CA364783211	EYS	c.4489G>T (p.Ala1497Ser)
6	g.64591378C>G	CA364783212	EYS	c.4489G>C (p.Ala1497Pro)
6	g.64591378C>T	CA364783210	EYS	c.4489G>A (p.Ala1497Thr)
6	g.64591379A=	CA1633809378	EYS	c.4488T= (p.Pro1496=)
6	g.64591379A>C	CA450862952	EYS	c.4488T>G (p.Pro1496=)
6	g.64591379A>G	CA3877076	EYS	c.4488T>C (p.Pro1496=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.64591379A>T	CA450862953	EYS	c.4488T>A (p.Pro1496=)
6	g.64591380G>A	CA364783213	EYS	c.4487C>T (p.Pro1496Leu)
6	g.64591380G>C	CA364783214	EYS	c.4487C>G (p.Pro1496Arg)
6	g.64591380G>T	CA364783215	EYS	c.4487C>A (p.Pro1496His)
6	g.64591381del	CA2771478451	EYS	c.4487del (p.Pro1496LeufsTer4)
6	g.64591381G>A	CA364783216	EYS	c.4486C>T (p.Pro1496Ser)	dbSNP gnomAD v3 gnomAD v4
6	g.64591381G>C	CA364783217	EYS	c.4486C>G (p.Pro1496Ala)
6	g.64591381G=	CA1633809379	EYS	c.4486C= (p.Pro1496=)
6	g.64591381G>T	CA364783218	EYS	c.4486C>A (p.Pro1496Thr)
6	g.64591382A>C	CA364783219	EYS	c.4485T>G (p.Phe1495Leu)
6	g.64591382A>G	CA450862962	EYS	c.4485T>C (p.Phe1495=)
6	g.64591382A>T	CA364783220	EYS	c.4485T>A (p.Phe1495Leu)
6	g.64591383A>C	CA364783221	EYS	c.4484T>G (p.Phe1495Cys)
6	g.64591383A>G	CA364783222	EYS	c.4484T>C (p.Phe1495Ser)
6	g.64591383A>T	CA364783223	EYS	c.4484T>A (p.Phe1495Tyr)
6	g.64591384A>C	CA364783225	EYS	c.4483T>G (p.Phe1495Val)
6	g.64591384A>G	CA364783226	EYS	c.4483T>C (p.Phe1495Leu)
6	g.64591384A>T	CA364783224	EYS	c.4483T>A (p.Phe1495Ile)
6	g.64591385A>C	CA364783227	EYS	c.4482T>G (p.Ile1494Met)
6	g.64591385A>G	CA450862975	EYS	c.4482T>C (p.Ile1494=)
6	g.64591385A>T	CA450862976	EYS	c.4482T>A (p.Ile1494=)	ClinVar
6	g.64591386A>C	CA364783228	EYS	c.4481T>G (p.Ile1494Ser)
6	g.64591386A>G	CA364783229	EYS	c.4481T>C (p.Ile1494Thr)
6	g.64591386A>T	CA364783230	EYS	c.4481T>A (p.Ile1494Asn)
6	g.64591387T>A	CA364783233	EYS	c.4480A>T (p.Ile1494Phe)
6	g.64591387T>C	CA364783232	EYS	c.4480A>G (p.Ile1494Val)
6	g.64591387T>G	CA364783231	EYS	c.4480A>C (p.Ile1494Leu)
6	g.64591388G>A	CA450862979	EYS	c.4479C>T (p.Pro1493=)	dbSNP
6	g.64591388G>C	CA450862980	EYS	c.4479C>G (p.Pro1493=)
6	g.64591388G=	CA1633809380	EYS	c.4479C= (p.Pro1493=)
6	g.64591388G>T	CA450862981	EYS	c.4479C>A (p.Pro1493=)
6	g.64591389G>A	CA3877077	EYS	c.4478C>T (p.Pro1493Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.64591389G>C	CA364783234	EYS	c.4478C>G (p.Pro1493Arg)
6	g.64591389G=	CA1633809381	EYS	c.4478C= (p.Pro1493=)
6	g.64591389G>T	CA364783235	EYS	c.4478C>A (p.Pro1493His)
6	g.64591390G>A	CA364783236	EYS	c.4477C>T (p.Pro1493Ser)
6	g.64591390G>C	CA364783237	EYS	c.4477C>G (p.Pro1493Ala)	gnomAD v4
6	g.64591390G>T	CA364783238	EYS	c.4477C>A (p.Pro1493Thr)	ClinVar dbSNP
6	g.64591391A>C	CA450862991	EYS	c.4476T>G (p.Ser1492=)
6	g.64591391A>G	CA450862992	EYS	c.4476T>C (p.Ser1492=)
6	g.64591391A>T	CA450862993	EYS	c.4476T>A (p.Ser1492=)

Number of alleles fetched