Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
6	g.64230698A=	CA1633626664	EYS	c.6318T= (p.Asp2106=)
6	g.64230698A>C	CA364391369	EYS	c.6318T>G (p.Asp2106Glu)
6	g.64230698A>G	CA3876929	EYS	c.6318T>C (p.Asp2106=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230698A>T	CA364391368	EYS	c.6318T>A (p.Asp2106Glu)	dbSNP gnomAD v2 gnomAD v4
6	g.64230699T>A	CA364391370	EYS	c.6317A>T (p.Asp2106Val)
6	g.64230699T>C	CA364391371	EYS	c.6317A>G (p.Asp2106Gly)	dbSNP
6	g.64230699T>G	CA364391372	EYS	c.6317A>C (p.Asp2106Ala)
6	g.64230699T=	CA1633626665	EYS	c.6317A= (p.Asp2106=)
6	g.64230700C>A	CA3876930	EYS	c.6316G>T (p.Asp2106Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230700C=	CA1633626666	EYS	c.6316G= (p.Asp2106=)
6	g.64230700C>G	CA364391373	EYS	c.6316G>C (p.Asp2106His)
6	g.64230700C>T	CA364391374	EYS	c.6316G>A (p.Asp2106Asn)
6	g.64230701C>A	CA364391375	EYS	c.6315G>T (p.Gln2105His)	gnomAD v4 COSMIC
6	g.64230701C>G	CA364391376	EYS	c.6315G>C (p.Gln2105His)
6	g.64230701C>T	CA450758816	EYS	c.6315G>A (p.Gln2105=)	gnomAD v4
6	g.64230702T>A	CA364391377	EYS	c.6314A>T (p.Gln2105Leu)	gnomAD v4
6	g.64230702T>C	CA364391378	EYS	c.6314A>G (p.Gln2105Arg)
6	g.64230702T>G	CA364391379	EYS	c.6314A>C (p.Gln2105Pro)
6	g.64230703G>A	CA364391380	EYS	c.6313C>T (p.Gln2105Ter)	ClinVar dbSNP
6	g.64230703G>C	CA364391381	EYS	c.6313C>G (p.Gln2105Glu)	gnomAD v4
6	g.64230703G=	CA1633626667	EYS	c.6313C= (p.Gln2105=)
6	g.64230703G>T	CA364391382	EYS	c.6313C>A (p.Gln2105Lys)	dbSNP gnomAD v2 gnomAD v4
6	g.64230704C>A	CA364391383	EYS	c.6312G>T (p.Gln2104His)
6	g.64230704C>G	CA364391384	EYS	c.6312G>C (p.Gln2104His)
6	g.64230704C>T	CA450758817	EYS	c.6312G>A (p.Gln2104=)	gnomAD v4
6	g.64230705T>A	CA364391385	EYS	c.6311A>T (p.Gln2104Leu)
6	g.64230705T>C	CA364391387	EYS	c.6311A>G (p.Gln2104Arg)
6	g.64230705T>G	CA364391386	EYS	c.6311A>C (p.Gln2104Pro)
6	g.64230706G>A	CA364391388	EYS	c.6310C>T (p.Gln2104Ter)
6	g.64230706G>C	CA364391389	EYS	c.6310C>G (p.Gln2104Glu)
6	g.64230706G>T	CA364391390	EYS	c.6310C>A (p.Gln2104Lys)
6	g.64230707G>A	CA450758818	EYS	c.6309C>T (p.Cys2103=)
6	g.64230707G>C	CA364391391	EYS	c.6309C>G (p.Cys2103Trp)
6	g.64230707G>T	CA364391392	EYS	c.6309C>A (p.Cys2103Ter)
6	g.64230707_64230708delinsGC	CA1633626668	EYS	c.6308_6309delinsGC (p.Cys2103=)
6	g.64230708del	CA568119118	EYS	c.6308del (p.Cys2103SerfsTer21)	dbSNP gnomAD v2 gnomAD v4
6	g.64230708C>A	CA364391393	EYS	c.6308G>T (p.Cys2103Phe)
6	g.64230708C>G	CA364391394	EYS	c.6308G>C (p.Cys2103Ser)
6	g.64230708C>T	CA364391395	EYS	c.6308G>A (p.Cys2103Tyr)
6	g.64230709A>C	CA364391396	EYS	c.6307T>G (p.Cys2103Gly)
6	g.64230709A>G	CA364391397	EYS	c.6307T>C (p.Cys2103Arg)
6	g.64230709A>T	CA364391398	EYS	c.6307T>A (p.Cys2103Ser)
6	g.64230710C>A	CA450758819	EYS	c.6306G>T (p.Val2102=)
6	g.64230710C=	CA1633626670	EYS	c.6306G= (p.Val2102=)
6	g.64230710C>G	CA450758820	EYS	c.6306G>C (p.Val2102=)
6	g.64230710C>T	CA450758821	EYS	c.6306G>A (p.Val2102=)	ClinVar dbSNP gnomAD v4
6	g.64230710_64230725delinsCACAGAGGGTGCTGCA	CA1633626669	EYS	c.6291_6306delinsTGCAGCACCCTCTGTG (p.Val2097=)
6	g.64230711A=	CA1633626671	EYS	c.6305T= (p.Val2102=)
6	g.64230711A>C	CA364391401	EYS	c.6305T>G (p.Val2102Gly)
6	g.64230711A>G	CA364391400	EYS	c.6305T>C (p.Val2102Ala)	dbSNP gnomAD v2 gnomAD v4
6	g.64230711A>T	CA364391399	EYS	c.6305T>A (p.Val2102Glu)
6	g.64230719_64230733del	CA568119119	EYS	c.6291_6305del (p.Ala2098_Val2102del)	dbSNP gnomAD v2 gnomAD v4
6	g.64230712C>A	CA364391402	EYS	c.6304G>T (p.Val2102Leu)
6	g.64230712C=	CA1633626672	EYS	c.6304G= (p.Val2102=)
6	g.64230712C>G	CA364391403	EYS	c.6304G>C (p.Val2102Leu)	dbSNP
6	g.64230712C>T	CA364391404	EYS	c.6304G>A (p.Val2102Met)
6	g.64230713A>C	CA450758822	EYS	c.6303T>G (p.Ser2101=)
6	g.64230713A>G	CA450758823	EYS	c.6303T>C (p.Ser2101=)
6	g.64230713A>T	CA450758824	EYS	c.6303T>A (p.Ser2101=)
6	g.64230715_64230716del	CA2695198255	EYS	c.6302_6303del (p.Ser2101CysfsTer28)	ClinVar
6	g.64230714G>A	CA140296097	EYS	c.6302C>T (p.Ser2101Phe)	ClinVar dbSNP gnomAD v4 COSMIC
6	g.64230714G>C	CA364391405	EYS	c.6302C>G (p.Ser2101Cys)	ClinVar gnomAD v4
6	g.64230714G=	CA1633626673	EYS	c.6302C= (p.Ser2101=)
6	g.64230714G>T	CA364391406	EYS	c.6302C>A (p.Ser2101Tyr)
6	g.64230715A>C	CA364391407	EYS	c.6301T>G (p.Ser2101Ala)
6	g.64230715A>G	CA364391408	EYS	c.6301T>C (p.Ser2101Pro)	gnomAD v4
6	g.64230715A>T	CA364391409	EYS	c.6301T>A (p.Ser2101Thr)
6	g.64230716G>A	CA450758825	EYS	c.6300C>T (p.Pro2100=)	dbSNP gnomAD v2 gnomAD v4
6	g.64230716G>C	CA450758826	EYS	c.6300C>G (p.Pro2100=)
6	g.64230716G=	CA1633626674	EYS	c.6300C= (p.Pro2100=)
6	g.64230716G>T	CA450758827	EYS	c.6300C>A (p.Pro2100=)
6	g.64230717G>A	CA364391410	EYS	c.6299C>T (p.Pro2100Leu)
6	g.64230717G>C	CA364391411	EYS	c.6299C>G (p.Pro2100Arg)
6	g.64230717G>T	CA364391412	EYS	c.6299C>A (p.Pro2100His)	gnomAD v4
6	g.64230718G>A	CA364391415	EYS	c.6298C>T (p.Pro2100Ser)	dbSNP gnomAD v4
6	g.64230718G>C	CA364391414	EYS	c.6298C>G (p.Pro2100Ala)
6	g.64230718G=	CA1633626675	EYS	c.6298C= (p.Pro2100=)
6	g.64230718G>T	CA364391413	EYS	c.6298C>A (p.Pro2100Thr)
6	g.64230719T>A	CA450758828	EYS	c.6297A>T (p.Ala2099=)
6	g.64230719T>C	CA450758830	EYS	c.6297A>G (p.Ala2099=)
6	g.64230719T>G	CA450758829	EYS	c.6297A>C (p.Ala2099=)
6	g.64230719_64230725dup	CA2679283468	EYS	c.6291_6297dup (p.Pro2100CysfsTer32)	gnomAD v4
6	g.64230720G>A	CA364391416	EYS	c.6296C>T (p.Ala2099Val)	ClinVar dbSNP gnomAD v4
6	g.64230720G>C	CA364391417	EYS	c.6296C>G (p.Ala2099Gly)	dbSNP
6	g.64230720G>T	CA364391418	EYS	c.6296C>A (p.Ala2099Glu)	gnomAD v4
6	g.64230720_64230721delinsGC	CA1633626676	EYS	c.6295_6296delinsGC (p.Ala2099=)
6	g.64230721del	CA568119120	EYS	c.6295del (p.Ala2099HisfsTer25)	dbSNP gnomAD v2
6	g.64230721C>A	CA364391419	EYS	c.6295G>T (p.Ala2099Ser)
6	g.64230721C>G	CA364391420	EYS	c.6295G>C (p.Ala2099Pro)
6	g.64230721C>T	CA364391421	EYS	c.6295G>A (p.Ala2099Thr)	gnomAD v4
6	g.64230722T>A	CA450758831	EYS	c.6294A>T (p.Ala2098=)
6	g.64230722T>C	CA450758832	EYS	c.6294A>G (p.Ala2098=)
6	g.64230722T>G	CA450758833	EYS	c.6294A>C (p.Ala2098=)	ClinVar
6	g.64230723G>A	CA364391422	EYS	c.6293C>T (p.Ala2098Val)
6	g.64230723G>C	CA364391423	EYS	c.6293C>G (p.Ala2098Gly)
6	g.64230723G>T	CA364391424	EYS	c.6293C>A (p.Ala2098Glu)
6	g.64230724C>A	CA364391425	EYS	c.6292G>T (p.Ala2098Ser)	dbSNP COSMIC
6	g.64230724C=	CA1633626677	EYS	c.6292G= (p.Ala2098=)
6	g.64230724C>G	CA364391426	EYS	c.6292G>C (p.Ala2098Pro)	gnomAD v4
6	g.64230724C>T	CA364391427	EYS	c.6292G>A (p.Ala2098Thr)
6	g.64230725A>C	CA450758834	EYS	c.6291T>G (p.Val2097=)
6	g.64230725A>G	CA450758835	EYS	c.6291T>C (p.Val2097=)
6	g.64230725A>T	CA450758836	EYS	c.6291T>A (p.Val2097=)
6	g.64230726A=	CA1633626678	EYS	c.6290T= (p.Val2097=)
6	g.64230726A>C	CA364391430	EYS	c.6290T>G (p.Val2097Gly)
6	g.64230726A>G	CA364391429	EYS	c.6290T>C (p.Val2097Ala)
6	g.64230726A>T	CA364391428	EYS	c.6290T>A (p.Val2097Asp)	dbSNP
6	g.64230727C>A	CA364391431	EYS	c.6289G>T (p.Val2097Phe)
6	g.64230727C=	CA1633626679	EYS	c.6289G= (p.Val2097=)
6	g.64230727C>G	CA364391432	EYS	c.6289G>C (p.Val2097Leu)	ClinVar gnomAD v4
6	g.64230727C>T	CA140296098	EYS	c.6289G>A (p.Val2097Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230728A>C	CA450758839	EYS	c.6288T>G (p.Ser2096=)
6	g.64230728A>G	CA450758838	EYS	c.6288T>C (p.Ser2096=)
6	g.64230728A>T	CA450758837	EYS	c.6288T>A (p.Ser2096=)
6	g.64230730_64230731del	CA2580617280	EYS	c.6287_6288del (p.Ser2096CysfsTer?)	ClinVar dbSNP
6	g.64230729G>A	CA364391433	EYS	c.6287C>T (p.Ser2096Phe)
6	g.64230729G>C	CA364391434	EYS	c.6287C>G (p.Ser2096Cys)
6	g.64230729G>T	CA364391435	EYS	c.6287C>A (p.Ser2096Tyr)
6	g.64230730del	CA2573052723	EYS	c.6286del (p.Ser2096LeufsTer28)	ClinVar dbSNP
6	g.64230730A>C	CA364391436	EYS	c.6286T>G (p.Ser2096Ala)
6	g.64230730A>G	CA364391437	EYS	c.6286T>C (p.Ser2096Pro)
6	g.64230730A>T	CA364391438	EYS	c.6286T>A (p.Ser2096Thr)
6	g.64230731G>A	CA450758841	EYS	c.6285C>T (p.Pro2095=)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.64230731G>C	CA450758842	EYS	c.6285C>G (p.Pro2095=)
6	g.64230731G=	CA1633626680	EYS	c.6285C= (p.Pro2095=)
6	g.64230731G>T	CA450758843	EYS	c.6285C>A (p.Pro2095=)
6	g.64230732G>A	CA3876931	EYS	c.6284C>T (p.Pro2095Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.64230732G>C	CA364391439	EYS	c.6284C>G (p.Pro2095Arg)
6	g.64230732G=	CA1633626681	EYS	c.6284C= (p.Pro2095=)
6	g.64230732G>T	CA364391440	EYS	c.6284C>A (p.Pro2095His)	dbSNP gnomAD v2
6	g.64230733G>A	CA364391443	EYS	c.6283C>T (p.Pro2095Ser)
6	g.64230733G>C	CA364391442	EYS	c.6283C>G (p.Pro2095Ala)
6	g.64230733G>T	CA364391441	EYS	c.6283C>A (p.Pro2095Thr)
6	g.64230734G>A	CA140296099	EYS	c.6282C>T (p.Ser2094=)	ClinVar dbSNP
6	g.64230734G>C	CA364391444	EYS	c.6282C>G (p.Ser2094Arg)
6	g.64230734G=	CA1633626682	EYS	c.6282C= (p.Ser2094=)
6	g.64230734G>T	CA364391445	EYS	c.6282C>A (p.Ser2094Arg)
6	g.64230735C>A	CA364391446	EYS	c.6281G>T (p.Ser2094Ile)
6	g.64230735C>G	CA364391448	EYS	c.6281G>C (p.Ser2094Thr)
6	g.64230735C>T	CA364391447	EYS	c.6281G>A (p.Ser2094Asn)	ClinVar dbSNP
6	g.64230736T>A	CA364391449	EYS	c.6280A>T (p.Ser2094Cys)
6	g.64230736T>C	CA364391451	EYS	c.6280A>G (p.Ser2094Gly)	gnomAD v3 gnomAD v4
6	g.64230736T>G	CA364391450	EYS	c.6280A>C (p.Ser2094Arg)
6	g.64230737G>A	CA450758844	EYS	c.6279C>T (p.Val2093=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.64230737G>C	CA450758845	EYS	c.6279C>G (p.Val2093=)
6	g.64230737G=	CA1633626683	EYS	c.6279C= (p.Val2093=)
6	g.64230737G>T	CA450758847	EYS	c.6279C>A (p.Val2093=)
6	g.64230738A=	CA1633626684	EYS	c.6278T= (p.Val2093=)
6	g.64230738A>C	CA364391452	EYS	c.6278T>G (p.Val2093Gly)	dbSNP gnomAD v2 gnomAD v4
6	g.64230738A>G	CA364391453	EYS	c.6278T>C (p.Val2093Ala)
6	g.64230738A>T	CA364391454	EYS	c.6278T>A (p.Val2093Asp)
6	g.64230739C>A	CA364391455	EYS	c.6277G>T (p.Val2093Phe)
6	g.64230739C>G	CA364391456	EYS	c.6277G>C (p.Val2093Leu)	gnomAD v4
6	g.64230739C>T	CA364391457	EYS	c.6277G>A (p.Val2093Ile)
6	g.64230740A>C	CA450758848	EYS	c.6276T>G (p.Ser2092=)
6	g.64230740A>G	CA450758849	EYS	c.6276T>C (p.Ser2092=)	ClinVar gnomAD v4
6	g.64230740A>T	CA450758850	EYS	c.6276T>A (p.Ser2092=)
6	g.64230741G>A	CA364391458	EYS	c.6275C>T (p.Ser2092Phe)
6	g.64230741G>C	CA364391459	EYS	c.6275C>G (p.Ser2092Cys)
6	g.64230741G>T	CA364391460	EYS	c.6275C>A (p.Ser2092Tyr)

Number of alleles fetched