Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.64230597del	CA2679283465	EYS	c.6423del (p.Asp2142MetfsTer15)	gnomAD v4
6	g.64230597T>A	CA364391146	EYS	c.6419A>T (p.Glu2140Val)
6	g.64230597T>C	CA364391145	EYS	c.6419A>G (p.Glu2140Gly)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.64230597T>G	CA364391144	EYS	c.6419A>C (p.Glu2140Ala)
6	g.64230597T=	CA1633626626	EYS	c.6419A= (p.Glu2140=)
6	g.64230597_64230598del	CA2578660041	EYS	c.6418_6419del (p.Glu2140LysfsTer30)
6	g.64230598C>A	CA364391147	EYS	c.6418G>T (p.Glu2140Ter)
6	g.64230598C>G	CA364391149	EYS	c.6418G>C (p.Glu2140Gln)
6	g.64230598C>T	CA364391148	EYS	c.6418G>A (p.Glu2140Lys)	COSMIC
6	g.64230599A>C	CA364391150	EYS	c.6417T>G (p.Cys2139Trp)
6	g.64230599A>G	CA450758748	EYS	c.6417T>C (p.Cys2139=)
6	g.64230599A>T	CA364391151	EYS	c.6417T>A (p.Cys2139Ter)
6	g.64230600C>A	CA364391152	EYS	c.6416G>T (p.Cys2139Phe)
6	g.64230600C=	CA1633626627	EYS	c.6416G= (p.Cys2139=)
6	g.64230600C>G	CA364391153	EYS	c.6416G>C (p.Cys2139Ser)
6	g.64230600C>T	CA199162	EYS	c.6416G>A (p.Cys2139Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230601A=	CA1633626628	EYS	c.6415T= (p.Cys2139=)
6	g.64230601A>C	CA364391154	EYS	c.6415T>G (p.Cys2139Gly)
6	g.64230601A>G	CA364391155	EYS	c.6415T>C (p.Cys2139Arg)	ClinVar dbSNP
6	g.64230601A>T	CA364391156	EYS	c.6415T>A (p.Cys2139Ser)
6	g.64230601_64230612del	CA2679283466	EYS	c.6404_6415del (p.Thr2135_Cys2139delinsSer)	ClinVar gnomAD v4
6	g.64230602G>A	CA450758749	EYS	c.6414C>T (p.Phe2138=)	ClinVar gnomAD v4
6	g.64230602G>C	CA364391157	EYS	c.6414C>G (p.Phe2138Leu)
6	g.64230602G>T	CA364391158	EYS	c.6414C>A (p.Phe2138Leu)
6	g.64230603A>C	CA364391161	EYS	c.6413T>G (p.Phe2138Cys)
6	g.64230603A>G	CA364391160	EYS	c.6413T>C (p.Phe2138Ser)	gnomAD v4
6	g.64230603A>T	CA364391159	EYS	c.6413T>A (p.Phe2138Tyr)
6	g.64230604A=	CA1633626629	EYS	c.6412T= (p.Phe2138=)
6	g.64230604A>C	CA364391162	EYS	c.6412T>G (p.Phe2138Val)
6	g.64230604A>G	CA364391163	EYS	c.6412T>C (p.Phe2138Leu)	dbSNP gnomAD v2 gnomAD v4
6	g.64230604A>T	CA364391164	EYS	c.6412T>A (p.Phe2138Ile)
6	g.64230605G>A	CA450758752	EYS	c.6411C>T (p.Arg2137=)
6	g.64230605G>C	CA450758751	EYS	c.6411C>G (p.Arg2137=)
6	g.64230605G>T	CA450758750	EYS	c.6411C>A (p.Arg2137=)
6	g.64230606C>A	CA364391165	EYS	c.6410G>T (p.Arg2137Leu)	gnomAD v4
6	g.64230606C=	CA1633626630	EYS	c.6410G= (p.Arg2137=)
6	g.64230606C>G	CA364391166	EYS	c.6410G>C (p.Arg2137Pro)
6	g.64230606C>T	CA140296089	EYS	c.6410G>A (p.Arg2137His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230607G>A	CA3876922	EYS	c.6409C>T (p.Arg2137Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230607G>C	CA364391167	EYS	c.6409C>G (p.Arg2137Gly)
6	g.64230607G=	CA1633626631	EYS	c.6409C= (p.Arg2137=)
6	g.64230607G>T	CA364391168	EYS	c.6409C>A (p.Arg2137Ser)
6	g.64230608G>A	CA450758753	EYS	c.6408C>T (p.Gly2136=)	ClinVar
6	g.64230608G>C	CA450758754	EYS	c.6408C>G (p.Gly2136=)	gnomAD v4
6	g.64230608G>T	CA450758755	EYS	c.6408C>A (p.Gly2136=)
6	g.64230609C>A	CA364391169	EYS	c.6407G>T (p.Gly2136Val)
6	g.64230609C=	CA1633626632	EYS	c.6407G= (p.Gly2136=)
6	g.64230609C>G	CA364391170	EYS	c.6407G>C (p.Gly2136Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.64230609C>T	CA364391171	EYS	c.6407G>A (p.Gly2136Asp)	gnomAD v4
6	g.64230610C>A	CA364391173	EYS	c.6406G>T (p.Gly2136Cys)
6	g.64230610C>G	CA364391174	EYS	c.6406G>C (p.Gly2136Arg)
6	g.64230610C>T	CA364391172	EYS	c.6406G>A (p.Gly2136Ser)
6	g.64230611A=	CA1633626633	EYS	c.6405T= (p.Thr2135=)
6	g.64230611A>C	CA450758757	EYS	c.6405T>G (p.Thr2135=)
6	g.64230611A>G	CA450758758	EYS	c.6405T>C (p.Thr2135=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230611A>T	CA450758759	EYS	c.6405T>A (p.Thr2135=)
6	g.64230612G>A	CA364391175	EYS	c.6404C>T (p.Thr2135Ile)
6	g.64230612G>C	CA364391176	EYS	c.6404C>G (p.Thr2135Ser)
6	g.64230612G>T	CA364391177	EYS	c.6404C>A (p.Thr2135Asn)	gnomAD v4
6	g.64230613T>A	CA364391178	EYS	c.6403A>T (p.Thr2135Ser)
6	g.64230613T>C	CA364391179	EYS	c.6403A>G (p.Thr2135Ala)
6	g.64230613T>G	CA364391180	EYS	c.6403A>C (p.Thr2135Pro)
6	g.64230614G>A	CA450758760	EYS	c.6402C>T (p.Phe2134=)
6	g.64230614G>C	CA364391181	EYS	c.6402C>G (p.Phe2134Leu)
6	g.64230614G>T	CA364391182	EYS	c.6402C>A (p.Phe2134Leu)
6	g.64230615A>C	CA364391183	EYS	c.6401T>G (p.Phe2134Cys)
6	g.64230615A>G	CA364391184	EYS	c.6401T>C (p.Phe2134Ser)
6	g.64230615A>T	CA364391185	EYS	c.6401T>A (p.Phe2134Tyr)
6	g.64230616A>C	CA364391186	EYS	c.6400T>G (p.Phe2134Val)
6	g.64230616A>G	CA364391187	EYS	c.6400T>C (p.Phe2134Leu)
6	g.64230616A>T	CA364391188	EYS	c.6400T>A (p.Phe2134Ile)
6	g.64230617A>C	CA364391189	EYS	c.6399T>G (p.His2133Gln)
6	g.64230617A>G	CA450758761	EYS	c.6399T>C (p.His2133=)
6	g.64230617A>T	CA364391190	EYS	c.6399T>A (p.His2133Gln)
6	g.64230618T>A	CA364391191	EYS	c.6398A>T (p.His2133Leu)
6	g.64230618T>C	CA364391192	EYS	c.6398A>G (p.His2133Arg)	gnomAD v4
6	g.64230618T>G	CA364391193	EYS	c.6398A>C (p.His2133Pro)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230618T=	CA1633626634	EYS	c.6398A= (p.His2133=)
6	g.64230619G>A	CA364391194	EYS	c.6397C>T (p.His2133Tyr)
6	g.64230619G>C	CA364391195	EYS	c.6397C>G (p.His2133Asp)
6	g.64230619G>T	CA364391196	EYS	c.6397C>A (p.His2133Asn)
6	g.64230620T>A	CA450758762	EYS	c.6396A>T (p.Leu2132=)
6	g.64230620T>C	CA450758763	EYS	c.6396A>G (p.Leu2132=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230620T>G	CA450758764	EYS	c.6396A>C (p.Leu2132=)
6	g.64230620T=	CA1633626635	EYS	c.6396A= (p.Leu2132=)
6	g.64230621A=	CA1633626636	EYS	c.6395T= (p.Leu2132=)
6	g.64230621A>C	CA140296090	EYS	c.6395T>G (p.Leu2132Arg)	dbSNP
6	g.64230621A>G	CA364391197	EYS	c.6395T>C (p.Leu2132Pro)	gnomAD v4
6	g.64230621A>T	CA364391198	EYS	c.6395T>A (p.Leu2132Gln)
6	g.64230622G>A	CA3876923	EYS	c.6394C>T (p.Leu2132=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230622G>C	CA364391199	EYS	c.6394C>G (p.Leu2132Val)
6	g.64230622G=	CA1633626637	EYS	c.6394C= (p.Leu2132=)
6	g.64230622G>T	CA364391200	EYS	c.6394C>A (p.Leu2132Ile)
6	g.64230623T>A	CA450758765	EYS	c.6393A>T (p.Pro2131=)
6	g.64230623T>C	CA450758766	EYS	c.6393A>G (p.Pro2131=)
6	g.64230623T>G	CA450758767	EYS	c.6393A>C (p.Pro2131=)
6	g.64230627_64230639del	CA2499218441	EYS	c.6381_6393del (p.Gln2127HisfsTer26)	ClinVar dbSNP
6	g.64230624G>A	CA364391203	EYS	c.6392C>T (p.Pro2131Leu)
6	g.64230624G>C	CA364391202	EYS	c.6392C>G (p.Pro2131Arg)
6	g.64230624G>T	CA364391201	EYS	c.6392C>A (p.Pro2131Gln)
6	g.64230625G>A	CA364391204	EYS	c.6391C>T (p.Pro2131Ser)
6	g.64230625G>C	CA364391206	EYS	c.6391C>G (p.Pro2131Ala)
6	g.64230625G>T	CA364391205	EYS	c.6391C>A (p.Pro2131Thr)
6	g.64230626A>C	CA364391207	EYS	c.6390T>G (p.Cys2130Trp)
6	g.64230626A>G	CA450758769	EYS	c.6390T>C (p.Cys2130=)	ClinVar gnomAD v4
6	g.64230626A>T	CA364391208	EYS	c.6390T>A (p.Cys2130Ter)
6	g.64230627C>A	CA364391209	EYS	c.6389G>T (p.Cys2130Phe)
6	g.64230627C=	CA1633626638	EYS	c.6389G= (p.Cys2130=)
6	g.64230627C>G	CA140296091	EYS	c.6389G>C (p.Cys2130Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230627C>T	CA364391210	EYS	c.6389G>A (p.Cys2130Tyr)
6	g.64230628A>C	CA364391211	EYS	c.6388T>G (p.Cys2130Gly)
6	g.64230628A>G	CA364391212	EYS	c.6388T>C (p.Cys2130Arg)
6	g.64230628A>T	CA364391213	EYS	c.6388T>A (p.Cys2130Ser)
6	g.64230629G>A	CA450758770	EYS	c.6387C>T (p.Asp2129=)
6	g.64230629G>C	CA364391214	EYS	c.6387C>G (p.Asp2129Glu)
6	g.64230629G>T	CA364391215	EYS	c.6387C>A (p.Asp2129Glu)	COSMIC
6	g.64230630T>A	CA364391216	EYS	c.6386A>T (p.Asp2129Val)
6	g.64230630T>C	CA364391217	EYS	c.6386A>G (p.Asp2129Gly)	gnomAD v4
6	g.64230630T>G	CA364391218	EYS	c.6386A>C (p.Asp2129Ala)
6	g.64230631C>A	CA364391219	EYS	c.6385G>T (p.Asp2129Tyr)
6	g.64230631C>G	CA364391220	EYS	c.6385G>C (p.Asp2129His)	gnomAD v4
6	g.64230631C>T	CA364391221	EYS	c.6385G>A (p.Asp2129Asn)
6	g.64230632A>C	CA364391222	EYS	c.6384T>G (p.Cys2128Trp)
6	g.64230632A>G	CA450758771	EYS	c.6384T>C (p.Cys2128=)
6	g.64230632A>T	CA364391223	EYS	c.6384T>A (p.Cys2128Ter)
6	g.64230633C>A	CA364391225	EYS	c.6383G>T (p.Cys2128Phe)
6	g.64230633C=	CA1633626639	EYS	c.6383G= (p.Cys2128=)
6	g.64230633C>G	CA364391224	EYS	c.6383G>C (p.Cys2128Ser)
6	g.64230633C>T	CA140296092	EYS	c.6383G>A (p.Cys2128Tyr)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.64230634A=	CA1633626640	EYS	c.6382T= (p.Cys2128=)
6	g.64230634A>C	CA364391226	EYS	c.6382T>G (p.Cys2128Gly)	dbSNP gnomAD v2 gnomAD v4
6	g.64230634A>G	CA364391227	EYS	c.6382T>C (p.Cys2128Arg)	ClinVar dbSNP
6	g.64230634A>T	CA364391228	EYS	c.6382T>A (p.Cys2128Ser)
6	g.64230635T>A	CA364391229	EYS	c.6381A>T (p.Gln2127His)
6	g.64230635T>C	CA140296093	EYS	c.6381A>G (p.Gln2127=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230635T>G	CA364391230	EYS	c.6381A>C (p.Gln2127His)
6	g.64230635T=	CA1633626641	EYS	c.6381A= (p.Gln2127=)
6	g.64230636T>A	CA364391231	EYS	c.6380A>T (p.Gln2127Leu)
6	g.64230636T>C	CA364391232	EYS	c.6380A>G (p.Gln2127Arg)
6	g.64230636T>G	CA364391233	EYS	c.6380A>C (p.Gln2127Pro)
6	g.64230637G>A	CA364391234	EYS	c.6379C>T (p.Gln2127Ter)
6	g.64230637G>C	CA364391235	EYS	c.6379C>G (p.Gln2127Glu)	COSMIC
6	g.64230637G>T	CA364391236	EYS	c.6379C>A (p.Gln2127Lys)
6	g.64230638G>A	CA450758773	EYS	c.6378C>T (p.Phe2126=)	gnomAD v4
6	g.64230638G>C	CA140296094	EYS	c.6378C>G (p.Phe2126Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230638G=	CA1633626642	EYS	c.6378C= (p.Phe2126=)
6	g.64230638G>T	CA364391237	EYS	c.6378C>A (p.Phe2126Leu)
6	g.64230639A=	CA1633626643	EYS	c.6377T= (p.Phe2126=)
6	g.64230639A>C	CA364391238	EYS	c.6377T>G (p.Phe2126Cys)
6	g.64230639A>G	CA364391239	EYS	c.6377T>C (p.Phe2126Ser)
6	g.64230639A>T	CA364391240	EYS	c.6377T>A (p.Phe2126Tyr)
6	g.64230640A>C	CA364391241	EYS	c.6376T>G (p.Phe2126Val)
6	g.64230640A>G	CA364391242	EYS	c.6376T>C (p.Phe2126Leu)	dbSNP
6	g.64230640A>T	CA364391243	EYS	c.6376T>A (p.Phe2126Ile)
6	g.64230643_64230650dup	CA1139659651	EYS	c.6369_6376dup (p.Phe2126Ter)	ClinVar dbSNP
6	g.64230641T>A	CA450758774	EYS	c.6375A>T (p.Ser2125=)
6	g.64230641T>C	CA450758775	EYS	c.6375A>G (p.Ser2125=)
6	g.64230641T>G	CA450758776	EYS	c.6375A>C (p.Ser2125=)
6	g.64230642G>A	CA364391244	EYS	c.6374C>T (p.Ser2125Leu)
6	g.64230642G>C	CA3876924	EYS	c.6374C>G (p.Ser2125Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.64230642G=	CA1633626644	EYS	c.6374C= (p.Ser2125=)
6	g.64230642G>T	CA364391245	EYS	c.6374C>A (p.Ser2125Ter)	gnomAD v4
6	g.64230643A>C	CA364391246	EYS	c.6373T>G (p.Ser2125Ala)
6	g.64230643A>G	CA364391247	EYS	c.6373T>C (p.Ser2125Pro)	gnomAD v4
6	g.64230643A>T	CA364391248	EYS	c.6373T>A (p.Ser2125Thr)
6	g.64230644C>A	CA450758778	EYS	c.6372G>T (p.Val2124=)	gnomAD v4
6	g.64230644C=	CA1633626645	EYS	c.6372G= (p.Val2124=)
6	g.64230644C>G	CA450758779	EYS	c.6372G>C (p.Val2124=)
6	g.64230644C>T	CA450758781	EYS	c.6372G>A (p.Val2124=)	ClinVar dbSNP
6	g.64230645A>C	CA364391250	EYS	c.6371T>G (p.Val2124Gly)	ClinVar
6	g.64230645A>G	CA364391251	EYS	c.6371T>C (p.Val2124Ala)
6	g.64230645A>T	CA364391249	EYS	c.6371T>A (p.Val2124Glu)
6	g.64230646C>A	CA364391252	EYS	c.6370G>T (p.Val2124Leu)
6	g.64230646C=	CA1633626646	EYS	c.6370G= (p.Val2124=)
6	g.64230646C>G	CA364391253	EYS	c.6370G>C (p.Val2124Leu)
6	g.64230646C>T	CA140296095	EYS	c.6370G>A (p.Val2124Met)	dbSNP gnomAD v2 gnomAD v4 COSMIC
6	g.64230647T>A	CA450758782	EYS	c.6369A>T (p.Ile2123=)
6	g.64230647T>C	CA364391254	EYS	c.6369A>G (p.Ile2123Met)
6	g.64230647T>G	CA450758783	EYS	c.6369A>C (p.Ile2123=)
6	g.64230648A>C	CA364391257	EYS	c.6368T>G (p.Ile2123Arg)
6	g.64230648A>G	CA364391256	EYS	c.6368T>C (p.Ile2123Thr)	gnomAD v4
6	g.64230648A>T	CA364391255	EYS	c.6368T>A (p.Ile2123Lys)
6	g.64230649T>A	CA364391258	EYS	c.6367A>T (p.Ile2123Leu)
6	g.64230649T>C	CA364391259	EYS	c.6367A>G (p.Ile2123Val)
6	g.64230649T>G	CA364391260	EYS	c.6367A>C (p.Ile2123Leu)
6	g.64230650G>A	CA450758784	EYS	c.6366C>T (p.Gly2122=)
6	g.64230650G>C	CA450758785	EYS	c.6366C>G (p.Gly2122=)
6	g.64230650G>T	CA450758786	EYS	c.6366C>A (p.Gly2122=)
6	g.64230651C>A	CA3876925	EYS	c.6365G>T (p.Gly2122Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230651C=	CA1633626647	EYS	c.6365G= (p.Gly2122=)
6	g.64230651C>G	CA364391261	EYS	c.6365G>C (p.Gly2122Ala)
6	g.64230651C>T	CA364391262	EYS	c.6365G>A (p.Gly2122Asp)
6	g.64230652C>A	CA364391263	EYS	c.6364G>T (p.Gly2122Cys)
6	g.64230652C>G	CA364391265	EYS	c.6364G>C (p.Gly2122Arg)
6	g.64230652C>T	CA364391264	EYS	c.6364G>A (p.Gly2122Ser)
6	g.64230653A>C	CA364391266	EYS	c.6363T>G (p.Ser2121Arg)
6	g.64230653A>G	CA450758787	EYS	c.6363T>C (p.Ser2121=)	ClinVar dbSNP gnomAD v4
6	g.64230653A>T	CA364391267	EYS	c.6363T>A (p.Ser2121Arg)
6	g.64230654C>A	CA364391268	EYS	c.6362G>T (p.Ser2121Ile)
6	g.64230654C>G	CA364391269	EYS	c.6362G>C (p.Ser2121Thr)
6	g.64230654C>T	CA364391270	EYS	c.6362G>A (p.Ser2121Asn)
6	g.64230655T>A	CA364391273	EYS	c.6361A>T (p.Ser2121Cys)
6	g.64230655T>C	CA364391272	EYS	c.6361A>G (p.Ser2121Gly)	dbSNP
6	g.64230655T>G	CA364391271	EYS	c.6361A>C (p.Ser2121Arg)
6	g.64230655T=	CA1633626648	EYS	c.6361A= (p.Ser2121=)
6	g.64230656G>A	CA450758789	EYS	c.6360C>T (p.Ser2120=)	gnomAD v4
6	g.64230656G>C	CA450758790	EYS	c.6360C>G (p.Ser2120=)
6	g.64230656G>T	CA450758788	EYS	c.6360C>A (p.Ser2120=)
6	g.64230657dup	CA2679283467	EYS	c.6360dup (p.Ser2121GlnfsTer9)	gnomAD v4
6	g.64230657del	CA2711909845	EYS	c.6360del (p.Ser2121ValfsTer3)	dbSNP
6	g.64230657G>A	CA364391274	EYS	c.6359C>T (p.Ser2120Phe)
6	g.64230657G>C	CA364391275	EYS	c.6359C>G (p.Ser2120Cys)
6	g.64230657G>T	CA364391276	EYS	c.6359C>A (p.Ser2120Tyr)
6	g.64230657_64230663delinsGAGAGGA	CA1633626649	EYS	c.6353_6359delinsTCCTCTC (p.Phe2118=)
6	g.64230658A>C	CA364391277	EYS	c.6358T>G (p.Ser2120Ala)
6	g.64230658A>G	CA364391278	EYS	c.6358T>C (p.Ser2120Pro)
6	g.64230658A>T	CA364391279	EYS	c.6358T>A (p.Ser2120Thr)	COSMIC
6	g.64230661_64230666del	CA1089830951	EYS	c.6353_6358del (p.Phe2118_Leu2119del)	dbSNP gnomAD v3 gnomAD v4
6	g.64230659G>A	CA450758793	EYS	c.6357C>T (p.Leu2119=)	ClinVar dbSNP
6	g.64230659G>C	CA450758791	EYS	c.6357C>G (p.Leu2119=)
6	g.64230659G>T	CA450758792	EYS	c.6357C>A (p.Leu2119=)
6	g.64230660A>C	CA364391282	EYS	c.6356T>G (p.Leu2119Arg)
6	g.64230660A>G	CA364391280	EYS	c.6356T>C (p.Leu2119Pro)
6	g.64230660A>T	CA364391281	EYS	c.6356T>A (p.Leu2119His)
6	g.64230661G>A	CA364391283	EYS	c.6355C>T (p.Leu2119Phe)	dbSNP gnomAD v2
6	g.64230661G>C	CA364391284	EYS	c.6355C>G (p.Leu2119Val)
6	g.64230661G=	CA1633626650	EYS	c.6355C= (p.Leu2119=)
6	g.64230661G>T	CA364391285	EYS	c.6355C>A (p.Leu2119Ile)	gnomAD v4
6	g.64230662G>A	CA450758794	EYS	c.6354C>T (p.Phe2118=)	dbSNP gnomAD v4
6	g.64230662G>C	CA364391286	EYS	c.6354C>G (p.Phe2118Leu)
6	g.64230662G>T	CA364391287	EYS	c.6354C>A (p.Phe2118Leu)
6	g.64230663A>C	CA364391288	EYS	c.6353T>G (p.Phe2118Cys)
6	g.64230663A>G	CA364391289	EYS	c.6353T>C (p.Phe2118Ser)
6	g.64230663A>T	CA364391290	EYS	c.6353T>A (p.Phe2118Tyr)
6	g.64230664A=	CA1633626651	EYS	c.6352T= (p.Phe2118=)
6	g.64230664A>C	CA364391291	EYS	c.6352T>G (p.Phe2118Val)
6	g.64230664A>G	CA364391292	EYS	c.6352T>C (p.Phe2118Leu)	gnomAD v4
6	g.64230664A>T	CA364391293	EYS	c.6352T>A (p.Phe2118Ile)	dbSNP
6	g.64230665G>A	CA450758795	EYS	c.6351C>T (p.Ile2117=)	ClinVar
6	g.64230665G>C	CA364391294	EYS	c.6351C>G (p.Ile2117Met)
6	g.64230665G>T	CA450758796	EYS	c.6351C>A (p.Ile2117=)
6	g.64230666A>C	CA364391295	EYS	c.6350T>G (p.Ile2117Ser)
6	g.64230666A>G	CA364391297	EYS	c.6350T>C (p.Ile2117Thr)
6	g.64230666A>T	CA364391296	EYS	c.6350T>A (p.Ile2117Asn)
6	g.64230674_64230678dup	CA2578660042	EYS	c.6346_6350dup (p.Ile2117MetfsTer9)	gnomAD v4
6	g.64230667T>A	CA364391298	EYS	c.6349A>T (p.Ile2117Phe)
6	g.64230667T>C	CA364391299	EYS	c.6349A>G (p.Ile2117Val)	gnomAD v4
6	g.64230667T>G	CA364391300	EYS	c.6349A>C (p.Ile2117Leu)
6	g.64230668G>A	CA450758797	EYS	c.6348C>T (p.Ala2116=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230668G>C	CA450758798	EYS	c.6348C>G (p.Ala2116=)
6	g.64230668G=	CA1633626652	EYS	c.6348C= (p.Ala2116=)
6	g.64230668G>T	CA450758799	EYS	c.6348C>A (p.Ala2116=)
6	g.64230669G>A	CA364391301	EYS	c.6347C>T (p.Ala2116Val)
6	g.64230669G>C	CA364391302	EYS	c.6347C>G (p.Ala2116Gly)	gnomAD v4
6	g.64230669G>T	CA364391303	EYS	c.6347C>A (p.Ala2116Asp)
6	g.64230670C>A	CA364391304	EYS	c.6346G>T (p.Ala2116Ser)	ClinVar dbSNP
6	g.64230670C=	CA1633626653	EYS	c.6346G= (p.Ala2116=)
6	g.64230670C>G	CA3876926	EYS	c.6346G>C (p.Ala2116Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.64230670C>T	CA364391305	EYS	c.6346G>A (p.Ala2116Thr)	gnomAD v4
6	g.64230671A>C	CA364391306	EYS	c.6345T>G (p.His2115Gln)
6	g.64230671A>G	CA450758800	EYS	c.6345T>C (p.His2115=)	ClinVar
6	g.64230671A>T	CA364391307	EYS	c.6345T>A (p.His2115Gln)
6	g.64230672T>A	CA364391309	EYS	c.6344A>T (p.His2115Leu)	dbSNP gnomAD v4
6	g.64230672T>C	CA140296096	EYS	c.6344A>G (p.His2115Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230672T>G	CA364391308	EYS	c.6344A>C (p.His2115Pro)	ClinVar dbSNP
6	g.64230672T=	CA1633626654	EYS	c.6344A= (p.His2115=)
6	g.64230673G>A	CA364391310	EYS	c.6343C>T (p.His2115Tyr)
6	g.64230673G>C	CA364391311	EYS	c.6343C>G (p.His2115Asp)
6	g.64230673G>T	CA364391312	EYS	c.6343C>A (p.His2115Asn)
6	g.64230674G>A	CA450758801	EYS	c.6342C>T (p.Cys2114=)	gnomAD v4
6	g.64230674G>C	CA364391313	EYS	c.6342C>G (p.Cys2114Trp)
6	g.64230674G>T	CA364391314	EYS	c.6342C>A (p.Cys2114Ter)
6	g.64230675C>A	CA364391315	EYS	c.6341G>T (p.Cys2114Phe)
6	g.64230675C>G	CA364391316	EYS	c.6341G>C (p.Cys2114Ser)
6	g.64230675C>T	CA364391317	EYS	c.6341G>A (p.Cys2114Tyr)
6	g.64230676A>C	CA364391318	EYS	c.6340T>G (p.Cys2114Gly)	gnomAD v4
6	g.64230676A>G	CA364391319	EYS	c.6340T>C (p.Cys2114Arg)
6	g.64230676A>T	CA364391320	EYS	c.6340T>A (p.Cys2114Ser)
6	g.64230677T>A	CA450758802	EYS	c.6339A>T (p.Thr2113=)
6	g.64230677T>C	CA3876927	EYS	c.6339A>G (p.Thr2113=)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.64230677T>G	CA450758803	EYS	c.6339A>C (p.Thr2113=)	dbSNP gnomAD v3 gnomAD v4
6	g.64230677T=	CA1633626655	EYS	c.6339A= (p.Thr2113=)
6	g.64230678G>A	CA364391323	EYS	c.6338C>T (p.Thr2113Ile)
6	g.64230678G>C	CA364391322	EYS	c.6338C>G (p.Thr2113Arg)	dbSNP
6	g.64230678G=	CA1633626656	EYS	c.6338C= (p.Thr2113=)
6	g.64230678G>T	CA364391321	EYS	c.6338C>A (p.Thr2113Lys)	gnomAD v4
6	g.64230679T>A	CA364391324	EYS	c.6337A>T (p.Thr2113Ser)	gnomAD v4
6	g.64230679T>C	CA364391326	EYS	c.6337A>G (p.Thr2113Ala)
6	g.64230679T>G	CA364391325	EYS	c.6337A>C (p.Thr2113Pro)
6	g.64230680G>A	CA450758804	EYS	c.6336C>T (p.Gly2112=)
6	g.64230680G>C	CA450758805	EYS	c.6336C>G (p.Gly2112=)
6	g.64230680G>T	CA450758806	EYS	c.6336C>A (p.Gly2112=)
6	g.64230681C>A	CA364391327	EYS	c.6335G>T (p.Gly2112Val)
6	g.64230681C>G	CA364391329	EYS	c.6335G>C (p.Gly2112Ala)
6	g.64230681C>T	CA364391328	EYS	c.6335G>A (p.Gly2112Asp)	ClinVar
6	g.64230682C>A	CA364391330	EYS	c.6334G>T (p.Gly2112Cys)
6	g.64230682C>G	CA364391331	EYS	c.6334G>C (p.Gly2112Arg)	gnomAD v4
6	g.64230682C>T	CA364391332	EYS	c.6334G>A (p.Gly2112Ser)
6	g.64230683T>A	CA450758807	EYS	c.6333A>T (p.Gly2111=)	gnomAD v4
6	g.64230683T>C	CA450758809	EYS	c.6333A>G (p.Gly2111=)
6	g.64230683T>G	CA450758808	EYS	c.6333A>C (p.Gly2111=)	gnomAD v4
6	g.64230684C>A	CA364391333	EYS	c.6332G>T (p.Gly2111Val)
6	g.64230684C>G	CA364391334	EYS	c.6332G>C (p.Gly2111Ala)
6	g.64230684C>T	CA364391335	EYS	c.6332G>A (p.Gly2111Glu)
6	g.64230685C>A	CA364391336	EYS	c.6331G>T (p.Gly2111Ter)
6	g.64230685C=	CA1633626657	EYS	c.6331G= (p.Gly2111=)
6	g.64230685C>G	CA364391337	EYS	c.6331G>C (p.Gly2111Arg)
6	g.64230685C>T	CA364391338	EYS	c.6331G>A (p.Gly2111Arg)	dbSNP gnomAD v3 gnomAD v4
6	g.64230686A>C	CA364391339	EYS	c.6330T>G (p.Asn2110Lys)
6	g.64230686A>G	CA450758810	EYS	c.6330T>C (p.Asn2110=)	ClinVar dbSNP gnomAD v4
6	g.64230686A>T	CA364391340	EYS	c.6330T>A (p.Asn2110Lys)	gnomAD v4
6	g.64230687T>A	CA364391343	EYS	c.6329A>T (p.Asn2110Ile)
6	g.64230687T>C	CA364391341	EYS	c.6329A>G (p.Asn2110Ser)	gnomAD v4
6	g.64230687T>G	CA364391342	EYS	c.6329A>C (p.Asn2110Thr)
6	g.64230688T>A	CA364391344	EYS	c.6328A>T (p.Asn2110Tyr)
6	g.64230688T>C	CA364391345	EYS	c.6328A>G (p.Asn2110Asp)
6	g.64230688T>G	CA364391346	EYS	c.6328A>C (p.Asn2110His)
6	g.64230689G>A	CA450758811	EYS	c.6327C>T (p.His2109=)	dbSNP
6	g.64230689G>C	CA364391347	EYS	c.6327C>G (p.His2109Gln)
6	g.64230689G=	CA1633626658	EYS	c.6327C= (p.His2109=)
6	g.64230689G>T	CA364391348	EYS	c.6327C>A (p.His2109Gln)
6	g.64230690T>A	CA364391349	EYS	c.6326A>T (p.His2109Leu)	dbSNP gnomAD v3 gnomAD v4
6	g.64230690T>C	CA364391350	EYS	c.6326A>G (p.His2109Arg)
6	g.64230690T>G	CA364391351	EYS	c.6326A>C (p.His2109Pro)
6	g.64230690T=	CA1633626659	EYS	c.6326A= (p.His2109=)
6	g.64230691G>A	CA364391352	EYS	c.6325C>T (p.His2109Tyr)
6	g.64230691G>C	CA364391353	EYS	c.6325C>G (p.His2109Asp)
6	g.64230691G>T	CA364391354	EYS	c.6325C>A (p.His2109Asn)
6	g.64230692G>A	CA450758812	EYS	c.6324C>T (p.Cys2108=)	dbSNP gnomAD v2 gnomAD v4
6	g.64230692G>C	CA364391356	EYS	c.6324C>G (p.Cys2108Trp)
6	g.64230692G=	CA1633626660	EYS	c.6324C= (p.Cys2108=)
6	g.64230692G>T	CA364391355	EYS	c.6324C>A (p.Cys2108Ter)	ClinVar dbSNP gnomAD v4
6	g.64230693C>A	CA364391357	EYS	c.6323G>T (p.Cys2108Phe)
6	g.64230693C=	CA1633626661	EYS	c.6323G= (p.Cys2108=)
6	g.64230693C>G	CA364391358	EYS	c.6323G>C (p.Cys2108Ser)
6	g.64230693C>T	CA3876928	EYS	c.6323G>A (p.Cys2108Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230694A=	CA1633626662	EYS	c.6322T= (p.Cys2108=)
6	g.64230694A>C	CA364391359	EYS	c.6322T>G (p.Cys2108Gly)
6	g.64230694A>G	CA364391360	EYS	c.6322T>C (p.Cys2108Arg)	ClinVar dbSNP
6	g.64230694A>T	CA364391361	EYS	c.6322T>A (p.Cys2108Ser)
6	g.64230695T>A	CA450758813	EYS	c.6321A>T (p.Val2107=)	gnomAD v4
6	g.64230695T>C	CA450758814	EYS	c.6321A>G (p.Val2107=)	ClinVar
6	g.64230695T>G	CA450758815	EYS	c.6321A>C (p.Val2107=)
6	g.64230696A>C	CA364391362	EYS	c.6320T>G (p.Val2107Gly)
6	g.64230696A>G	CA364391363	EYS	c.6320T>C (p.Val2107Ala)
6	g.64230696A>T	CA364391364	EYS	c.6320T>A (p.Val2107Glu)
6	g.64230697C>A	CA364391365	EYS	c.6319G>T (p.Val2107Leu)
6	g.64230697C=	CA1633626663	EYS	c.6319G= (p.Val2107=)
6	g.64230697C>G	CA364391366	EYS	c.6319G>C (p.Val2107Leu)
6	g.64230697C>T	CA364391367	EYS	c.6319G>A (p.Val2107Ile)	dbSNP gnomAD v4

Number of alleles fetched