Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.64230538T>A	CA1089830874	EYS	c.6424+54A>T (n.6424+54A>T)	dbSNP gnomAD v3 gnomAD v4
6	g.64230538T>G	CA2679283447	EYS	c.6424+54A>C (n.6424+54A>C)	gnomAD v4
6	g.64230538T=	CA1633626601	EYS	c.6424+54A= (n.6424+54A=)
6	g.64230540C>A	CA2679283448	EYS	c.6424+52G>T (n.6424+52G>T)	gnomAD v4
6	g.64230540C=	CA1633626602	EYS	c.6424+52G= (n.6424+52G=)
6	g.64230540C>T	CA1633626603	EYS	c.6424+52G>A (n.6424+52G>A)	dbSNP
6	g.64230541T>A	CA1089830904	EYS	c.6424+51A>T (n.6424+51A>T)	dbSNP gnomAD v3 gnomAD v4
6	g.64230541T=	CA1633626604	EYS	c.6424+51A= (n.6424+51A=)
6	g.64230542C>A	CA2679283449	EYS	c.6424+50G>T (n.6424+50G>T)	gnomAD v4
6	g.64230542C>G	CA2771469812	EYS	c.6424+50G>C (n.6424+50G>C)
6	g.64230544G>A	CA1633626606	EYS	c.6424+48C>T (n.6424+48C>T)	dbSNP
6	g.64230544G=	CA1633626605	EYS	c.6424+48C= (n.6424+48C=)
6	g.64230544G>T	CA2578660039	EYS	c.6424+48C>A (n.6424+48C>A)	gnomAD v4
6	g.64230545del	CA2679283450	EYS	c.6424+48del (n.6424+48del)	gnomAD v4
6	g.64230545G>C	CA3876920	EYS	c.6424+47C>G (n.6424+47C>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230545G=	CA1633626607	EYS	c.6424+47C= (n.6424+47C=)
6	g.64230545G>T	CA2679283451	EYS	c.6424+47C>A (n.6424+47C>A)	gnomAD v4
6	g.64230548A=	CA1633626608	EYS	c.6424+44T= (n.6424+44T=)
6	g.64230548A>G	CA827005058	EYS	c.6424+44T>C (n.6424+44T>C)	dbSNP gnomAD v4
6	g.64230549G>T	CA2679283452	EYS	c.6424+43C>A (n.6424+43C>A)	gnomAD v4
6	g.64230550G>A	CA1089830916	EYS	c.6424+42C>T (n.6424+42C>T)	dbSNP gnomAD v3 gnomAD v4
6	g.64230550G>C	CA140296082	EYS	c.6424+42C>G (n.6424+42C>G)	dbSNP
6	g.64230550G=	CA1633626609	EYS	c.6424+42C= (n.6424+42C=)
6	g.64230551T>C	CA2679283453	EYS	c.6424+41A>G (n.6424+41A>G)	gnomAD v4
6	g.64230555dup	CA568119101	EYS	c.6424+41dup (n.6424+41dup)	dbSNP gnomAD v2 gnomAD v4
6	g.64230553T>C	CA827005066	EYS	c.6424+39A>G (n.6424+39A>G)	dbSNP gnomAD v3 gnomAD v4
6	g.64230553T>G	CA568119102	EYS	c.6424+39A>C (n.6424+39A>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230553T=	CA1633626610	EYS	c.6424+39A= (n.6424+39A=)
6	g.64230554T>A	CA568119103	EYS	c.6424+38A>T (n.6424+38A>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230554T=	CA1633626611	EYS	c.6424+38A= (n.6424+38A=)
6	g.64230555T>C	CA3876921	EYS	c.6424+37A>G (n.6424+37A>G)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230555T=	CA1633626612	EYS	c.6424+37A= (n.6424+37A=)
6	g.64230556A>G	CA2679283454	EYS	c.6424+36T>C (n.6424+36T>C)	gnomAD v4
6	g.64230563A=	CA1633626613	EYS	c.6424+29T= (n.6424+29T=)
6	g.64230563A>C	CA827005097	EYS	c.6424+29T>G (n.6424+29T>G)	dbSNP gnomAD v3 gnomAD v4
6	g.64230566A=	CA1633626614	EYS	c.6424+26T= (n.6424+26T=)
6	g.64230566A>G	CA140296083	EYS	c.6424+26T>C (n.6424+26T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230567C=	CA1633626615	EYS	c.6424+25G= (n.6424+25G=)
6	g.64230567C>T	CA568119104	EYS	c.6424+25G>A (n.6424+25G>A)	dbSNP gnomAD v2
6	g.64230568A=	CA1633626616	EYS	c.6424+24T= (n.6424+24T=)
6	g.64230568A>G	CA568119105	EYS	c.6424+24T>C (n.6424+24T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230571del	CA2679283455	EYS	c.6424+24del (n.6424+24del)	gnomAD v4
6	g.64230569A=	CA1633626617	EYS	c.6424+23T= (n.6424+23T=)
6	g.64230569A>G	CA568119106	EYS	c.6424+23T>C (n.6424+23T>C)	dbSNP gnomAD v2 gnomAD v4
6	g.64230571A>G	CA2679283456	EYS	c.6424+21T>C (n.6424+21T>C)	gnomAD v4
6	g.64230572G>A	CA2679283457	EYS	c.6424+20C>T (n.6424+20C>T)	gnomAD v4
6	g.64230572G>C	CA2679283458	EYS	c.6424+20C>G (n.6424+20C>G)	gnomAD v4
6	g.64230573G>A	CA2679283459	EYS	c.6424+19C>T (n.6424+19C>T)	gnomAD v4
6	g.64230574G>A	CA827005130	EYS	c.6424+18C>T (n.6424+18C>T)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.64230574G=	CA1633626618	EYS	c.6424+18C= (n.6424+18C=)
6	g.64230574G>T	CA2679283460	EYS	c.6424+18C>A (n.6424+18C>A)	gnomAD v4
6	g.64230578T>C	CA1089830931	EYS	c.6424+14A>G (n.6424+14A>G)	dbSNP gnomAD v3 gnomAD v4
6	g.64230578T>G	CA2679283461	EYS	c.6424+14A>C (n.6424+14A>C)	gnomAD v4
6	g.64230578T=	CA1633626619	EYS	c.6424+14A= (n.6424+14A=)
6	g.64230582G>A	CA140296084	EYS	c.6424+10C>T (n.6424+10C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.64230582G=	CA1633626620	EYS	c.6424+10C= (n.6424+10C=)
6	g.64230582G>T	CA140296085	EYS	c.6424+10C>A (n.6424+10C>A)	dbSNP gnomAD v4
6	g.64230583A>C	CA2679283462	EYS	c.6424+9T>G (n.6424+9T>G)	gnomAD v4
6	g.64230584T>C	CA140296086	EYS	c.6424+8A>G (n.6424+8A>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230584T>G	CA2679283463	EYS	c.6424+8A>C (n.6424+8A>C)	gnomAD v4
6	g.64230584T=	CA1633626621	EYS	c.6424+8A= (n.6424+8A=)
6	g.64230585T>A	CA2578660040	EYS	c.6424+7A>T (n.6424+7A>T)
6	g.64230586G>T	CA2679283464	EYS	c.6424+6C>A (n.6424+6C>A)	gnomAD v4
6	g.64230587A=	CA1633626622	EYS	c.6424+5T= (n.6424+5T=)
6	g.64230587A>G	CA827005140	EYS	c.6424+5T>C (n.6424+5T>C)	dbSNP gnomAD v3 gnomAD v4
6	g.64230588T>C	CA140296087	EYS	c.6424+4A>G (n.6424+4A>G)	dbSNP gnomAD v3 gnomAD v4
6	g.64230588T>G	CA2771469813	EYS	c.6424+4A>C (n.6424+4A>C)
6	g.64230588T=	CA1633626623	EYS	c.6424+4A= (n.6424+4A=)
6	g.64230590A=	CA1633626624	EYS	c.6424+2T= (n.6424+2T=)
6	g.64230590A>C	CA364391126	EYS	c.6424+2T>G (n.6424+2T>G)
6	g.64230590A>G	CA364391127	EYS	c.6424+2T>C (n.6424+2T>C)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.64230590A>T	CA364391128	EYS	c.6424+2T>A (n.6424+2T>A)
6	g.64230591C>A	CA140296088	EYS	c.6424+1G>T (n.6424+1G>T)	dbSNP gnomAD v3 gnomAD v4
6	g.64230591C=	CA1633626625	EYS	c.6424+1G= (n.6424+1G=)
6	g.64230591C>G	CA364391129	EYS	c.6424+1G>C (n.6424+1G>C)
6	g.64230591C>T	CA364391130	EYS	c.6424+1G>A (n.6424+1G>A)	ClinVar
6	g.64230592C>A	CA364391131	EYS	c.6424G>T (p.Asp2142Tyr)	gnomAD v4
6	g.64230592C>G	CA364391133	EYS	c.6424G>C (p.Asp2142His)
6	g.64230592C>T	CA364391132	EYS	c.6424G>A (p.Asp2142Asn)
6	g.64230593T>A	CA364391134	EYS	c.6423A>T (p.Lys2141Asn)
6	g.64230593T>C	CA450758746	EYS	c.6423A>G (p.Lys2141=)	gnomAD v4
6	g.64230593T>G	CA364391135	EYS	c.6423A>C (p.Lys2141Asn)
6	g.64230597del	CA2679283465	EYS	c.6423del (p.Asp2142MetfsTer15)	gnomAD v4
6	g.64230594T>A	CA364391136	EYS	c.6422A>T (p.Lys2141Ile)
6	g.64230594T>C	CA364391137	EYS	c.6422A>G (p.Lys2141Arg)
6	g.64230594T>G	CA364391138	EYS	c.6422A>C (p.Lys2141Thr)
6	g.64230595T>A	CA364391139	EYS	c.6421A>T (p.Lys2141Ter)
6	g.64230595T>C	CA364391140	EYS	c.6421A>G (p.Lys2141Glu)
6	g.64230595T>G	CA364391141	EYS	c.6421A>C (p.Lys2141Gln)
6	g.64230596T>A	CA364391142	EYS	c.6420A>T (p.Glu2140Asp)
6	g.64230596T>C	CA450758747	EYS	c.6420A>G (p.Glu2140=)
6	g.64230596T>G	CA364391143	EYS	c.6420A>C (p.Glu2140Asp)
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)

Number of alleles fetched