Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
6	g.79493642C>A	CA364645255	LCA5	c.829G>T (p.Glu277Ter)
6	g.79493642C=	CA1640630139	LCA5	c.829G= (p.Glu277=)
6	g.79493642C>G	CA364645256	LCA5	c.829G>C (p.Glu277Gln)
6	g.79493642C>T	CA3901016	LCA5	c.829G>A (p.Glu277Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493643del	CA2695206736	LCA5	c.829del (p.Glu277ArgfsTer9)
6	g.79493643C>A	CA364645257	LCA5	c.828G>T (p.Lys276Asn)
6	g.79493643C>G	CA364645258	LCA5	c.828G>C (p.Lys276Asn)	gnomAD v4
6	g.79493643C>T	CA451012094	LCA5	c.828G>A (p.Lys276=)
6	g.79493644T>A	CA364645259	LCA5	c.827A>T (p.Lys276Met)
6	g.79493644T>C	CA3901017	LCA5	c.827A>G (p.Lys276Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493644T>G	CA364645260	LCA5	c.827A>C (p.Lys276Thr)
6	g.79493644T=	CA1640630140	LCA5	c.827A= (p.Lys276=)
6	g.79493645T>A	CA364645261	LCA5	c.826A>T (p.Lys276Ter)
6	g.79493645T>C	CA364645262	LCA5	c.826A>G (p.Lys276Glu)
6	g.79493645T>G	CA364645263	LCA5	c.826A>C (p.Lys276Gln)
6	g.79493646T>A	CA364645264	LCA5	c.825A>T (p.Gln275His)
6	g.79493646T>C	CA451012107	LCA5	c.825A>G (p.Gln275=)	dbSNP
6	g.79493646T>G	CA364645265	LCA5	c.825A>C (p.Gln275His)
6	g.79493646T=	CA1640630141	LCA5	c.825A= (p.Gln275=)
6	g.79493647T>A	CA364645267	LCA5	c.824A>T (p.Gln275Leu)
6	g.79493647T>C	CA3901018	LCA5	c.824A>G (p.Gln275Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493647T>G	CA364645266	LCA5	c.824A>C (p.Gln275Pro)
6	g.79493647T=	CA1640630142	LCA5	c.824A= (p.Gln275=)
6	g.79493648G>A	CA364645269	LCA5	c.823C>T (p.Gln275Ter)
6	g.79493648G>C	CA364645268	LCA5	c.823C>G (p.Gln275Glu)
6	g.79493648G>T	CA364645270	LCA5	c.823C>A (p.Gln275Lys)
6	g.79493649A>C	CA451012121	LCA5	c.822T>G (p.Leu274=)
6	g.79493649A>G	CA451012123	LCA5	c.822T>C (p.Leu274=)
6	g.79493649A>T	CA451012122	LCA5	c.822T>A (p.Leu274=)
6	g.79493650A>C	CA364645271	LCA5	c.821T>G (p.Leu274Arg)
6	g.79493650A>G	CA364645272	LCA5	c.821T>C (p.Leu274Pro)
6	g.79493650A>T	CA364645273	LCA5	c.821T>A (p.Leu274His)
6	g.79493651G>A	CA364645274	LCA5	c.820C>T (p.Leu274Phe)
6	g.79493651G>C	CA364645275	LCA5	c.820C>G (p.Leu274Val)
6	g.79493651G=	CA1640630143	LCA5	c.820C= (p.Leu274=)
6	g.79493651G>T	CA364645276	LCA5	c.820C>A (p.Leu274Ile)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.79493652A>C	CA451012151	LCA5	c.819T>G (p.Val273=)
6	g.79493652A>G	CA451012152	LCA5	c.819T>C (p.Val273=)
6	g.79493652A>T	CA451012155	LCA5	c.819T>A (p.Val273=)
6	g.79493653A>C	CA364645277	LCA5	c.818T>G (p.Val273Gly)
6	g.79493653A>G	CA364645278	LCA5	c.818T>C (p.Val273Ala)
6	g.79493653A>T	CA364645279	LCA5	c.818T>A (p.Val273Asp)
6	g.79493654C>A	CA364645280	LCA5	c.817G>T (p.Val273Phe)
6	g.79493654C>G	CA364645281	LCA5	c.817G>C (p.Val273Leu)
6	g.79493654C>T	CA364645282	LCA5	c.817G>A (p.Val273Ile)
6	g.79493655T>A	CA364645284	LCA5	c.816A>T (p.Lys272Asn)
6	g.79493655T>C	CA3901019	LCA5	c.816A>G (p.Lys272=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493655T>G	CA364645283	LCA5	c.816A>C (p.Lys272Asn)
6	g.79493655T=	CA1640630144	LCA5	c.816A= (p.Lys272=)
6	g.79493656T>A	CA364645285	LCA5	c.815A>T (p.Lys272Ile)
6	g.79493656T>C	CA3901020	LCA5	c.815A>G (p.Lys272Arg)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493656T>G	CA364645286	LCA5	c.815A>C (p.Lys272Thr)	COSMIC
6	g.79493656T=	CA1640630145	LCA5	c.815A= (p.Lys272=)
6	g.79493657T>A	CA364645287	LCA5	c.814A>T (p.Lys272Ter)
6	g.79493657T>C	CA3901021	LCA5	c.814A>G (p.Lys272Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.79493657T>G	CA364645288	LCA5	c.814A>C (p.Lys272Gln)
6	g.79493657T=	CA1640630146	LCA5	c.814A= (p.Lys272=)
6	g.79493658A>C	CA364645289	LCA5	c.813T>G (p.Asn271Lys)
6	g.79493658A>G	CA451012207	LCA5	c.813T>C (p.Asn271=)
6	g.79493658A>T	CA364645290	LCA5	c.813T>A (p.Asn271Lys)	dbSNP
6	g.79493659T>A	CA364645291	LCA5	c.812A>T (p.Asn271Ile)
6	g.79493659T>C	CA3901022	LCA5	c.812A>G (p.Asn271Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493659T>G	CA364645292	LCA5	c.812A>C (p.Asn271Thr)
6	g.79493659T=	CA1640630147	LCA5	c.812A= (p.Asn271=)
6	g.79493662del	CA2679482335	LCA5	c.812del (p.Asn271IlefsTer15)	gnomAD v4
6	g.79493660T>A	CA364645295	LCA5	c.811A>T (p.Asn271Tyr)
6	g.79493660T>C	CA364645294	LCA5	c.811A>G (p.Asn271Asp)
6	g.79493660T>G	CA364645293	LCA5	c.811A>C (p.Asn271His)
6	g.79493661T>A	CA364645296	LCA5	c.810A>T (p.Glu270Asp)
6	g.79493661T>C	CA451012230	LCA5	c.810A>G (p.Glu270=)
6	g.79493661T>G	CA364645297	LCA5	c.810A>C (p.Glu270Asp)
6	g.79493661_79493664delinsTTCA	CA1640630148	LCA5	c.807_810delinsTGAA (p.Asp269=)
6	g.79493662T>A	CA364645298	LCA5	c.809A>T (p.Glu270Val)
6	g.79493662T>C	CA364645299	LCA5	c.809A>G (p.Glu270Gly)
6	g.79493662T>G	CA364645300	LCA5	c.809A>C (p.Glu270Ala)
6	g.79493666_79493668del	CA3901023	LCA5	c.807_809del (p.Asp269del)	dbSNP ExAC gnomAD v2
6	g.79493663C>A	CA364645303	LCA5	c.808G>T (p.Glu270Ter)
6	g.79493663C=	CA1640630149	LCA5	c.808G= (p.Glu270=)
6	g.79493663C>G	CA364645301	LCA5	c.808G>C (p.Glu270Gln)
6	g.79493663C>T	CA364645302	LCA5	c.808G>A (p.Glu270Lys)	dbSNP COSMIC
6	g.79493664A=	CA1640630150	LCA5	c.807T= (p.Asp269=)
6	g.79493664A>C	CA364645304	LCA5	c.807T>G (p.Asp269Glu)
6	g.79493664A>G	CA451012265	LCA5	c.807T>C (p.Asp269=)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.79493664A>T	CA364645305	LCA5	c.807T>A (p.Asp269Glu)
6	g.79493665T>A	CA364645306	LCA5	c.806A>T (p.Asp269Val)
6	g.79493665T>C	CA364645307	LCA5	c.806A>G (p.Asp269Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.79493665T>G	CA364645308	LCA5	c.806A>C (p.Asp269Ala)
6	g.79493665T=	CA1640630151	LCA5	c.806A= (p.Asp269=)
6	g.79493666del	CA2679482336	LCA5	c.805del (p.Asp269MetfsTer17)	gnomAD v4
6	g.79493666C>A	CA364645309	LCA5	c.805G>T (p.Asp269Tyr)	gnomAD v4
6	g.79493666C=	CA1640630152	LCA5	c.805G= (p.Asp269=)
6	g.79493666C>G	CA364645311	LCA5	c.805G>C (p.Asp269His)	dbSNP gnomAD v3 gnomAD v4
6	g.79493666C>T	CA364645310	LCA5	c.805G>A (p.Asp269Asn)	gnomAD v4
6	g.79493667A=	CA1640630153	LCA5	c.804T= (p.His268=)
6	g.79493667A>C	CA364645312	LCA5	c.804T>G (p.His268Gln)
6	g.79493667A>G	CA451012289	LCA5	c.804T>C (p.His268=)	ClinVar dbSNP gnomAD v4
6	g.79493667A>T	CA364645313	LCA5	c.804T>A (p.His268Gln)
6	g.79493668T>A	CA364645314	LCA5	c.803A>T (p.His268Leu)
6	g.79493668T>C	CA364645315	LCA5	c.803A>G (p.His268Arg)
6	g.79493668T>G	CA364645316	LCA5	c.803A>C (p.His268Pro)	gnomAD v4
6	g.79493669G>A	CA364645317	LCA5	c.802C>T (p.His268Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493669G>C	CA364645318	LCA5	c.802C>G (p.His268Asp)
6	g.79493669G=	CA1640630154	LCA5	c.802C= (p.His268=)
6	g.79493669G>T	CA364645319	LCA5	c.802C>A (p.His268Asn)
6	g.79493670A>C	CA451012321	LCA5	c.801T>G (p.Ala267=)
6	g.79493670A>G	CA451012318	LCA5	c.801T>C (p.Ala267=)
6	g.79493670A>T	CA451012320	LCA5	c.801T>A (p.Ala267=)
6	g.79493671G>A	CA141864503	LCA5	c.800C>T (p.Ala267Val)	dbSNP gnomAD v3 gnomAD v4
6	g.79493671G>C	CA364645320	LCA5	c.800C>G (p.Ala267Gly)
6	g.79493671G=	CA1640630155	LCA5	c.800C= (p.Ala267=)
6	g.79493671G>T	CA364645321	LCA5	c.800C>A (p.Ala267Asp)
6	g.79493672C>A	CA364645323	LCA5	c.799G>T (p.Ala267Ser)
6	g.79493672C=	CA1640630156	LCA5	c.799G= (p.Ala267=)
6	g.79493672C>G	CA3901024	LCA5	c.799G>C (p.Ala267Pro)	dbSNP ExAC gnomAD v4
6	g.79493672C>T	CA364645322	LCA5	c.799G>A (p.Ala267Thr)	gnomAD v4
6	g.79493673C>A	CA364645325	LCA5	c.798G>T (p.Glu266Asp)
6	g.79493673C=	CA1640630157	LCA5	c.798G= (p.Glu266=)
6	g.79493673C>G	CA364645324	LCA5	c.798G>C (p.Glu266Asp)
6	g.79493673C>T	CA3901025	LCA5	c.798G>A (p.Glu266=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493674T>A	CA364645326	LCA5	c.797A>T (p.Glu266Val)	gnomAD v4
6	g.79493674T>C	CA364645327	LCA5	c.797A>G (p.Glu266Gly)	gnomAD v4
6	g.79493674T>G	CA364645328	LCA5	c.797A>C (p.Glu266Ala)
6	g.79493674_79493675delinsTC	CA1640630158	LCA5	c.796_797delinsGA (p.Glu266=)
6	g.79493675del	CA1640630159	LCA5	c.796del (p.Glu266ArgfsTer20)	dbSNP
6	g.79493675C>A	CA364645329	LCA5	c.796G>T (p.Glu266Ter)	COSMIC
6	g.79493675C=	CA1640630160	LCA5	c.796G= (p.Glu266=)
6	g.79493675C>G	CA3901026	LCA5	c.796G>C (p.Glu266Gln)	dbSNP ExAC
6	g.79493675C>T	CA364645330	LCA5	c.796G>A (p.Glu266Lys)
6	g.79493676A=	CA1640630161	LCA5	c.795T= (p.Tyr265=)
6	g.79493676A>C	CA364645331	LCA5	c.795T>G (p.Tyr265Ter)	ClinVar dbSNP gnomAD v2 gnomAD v4
6	g.79493676A>G	CA451012377	LCA5	c.795T>C (p.Tyr265=)
6	g.79493676A>T	CA364645332	LCA5	c.795T>A (p.Tyr265Ter)
6	g.79493677T>A	CA364645333	LCA5	c.794A>T (p.Tyr265Phe)
6	g.79493677T>C	CA364645334	LCA5	c.794A>G (p.Tyr265Cys)	gnomAD v4
6	g.79493677T>G	CA364645335	LCA5	c.794A>C (p.Tyr265Ser)
6	g.79493678A>C	CA364645337	LCA5	c.793T>G (p.Tyr265Asp)
6	g.79493678A>G	CA364645338	LCA5	c.793T>C (p.Tyr265His)	gnomAD v4
6	g.79493678A>T	CA364645336	LCA5	c.793T>A (p.Tyr265Asn)
6	g.79493679T>A	CA451012406	LCA5	c.792A>T (p.Ala264=)
6	g.79493679T>C	CA3901027	LCA5	c.792A>G (p.Ala264=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.79493679T>G	CA451012410	LCA5	c.792A>C (p.Ala264=)
6	g.79493679T=	CA1640630162	LCA5	c.792A= (p.Ala264=)
6	g.79493680G>A	CA364645339	LCA5	c.791C>T (p.Ala264Val)
6	g.79493680G>C	CA364645340	LCA5	c.791C>G (p.Ala264Gly)
6	g.79493680G>T	CA364645341	LCA5	c.791C>A (p.Ala264Glu)
6	g.79493681C>A	CA364645344	LCA5	c.790G>T (p.Ala264Ser)	ClinVar dbSNP
6	g.79493681C=	CA1640630163	LCA5	c.790G= (p.Ala264=)
6	g.79493681C>G	CA364645343	LCA5	c.790G>C (p.Ala264Pro)
6	g.79493681C>T	CA364645342	LCA5	c.790G>A (p.Ala264Thr)	dbSNP
6	g.79493682C>A	CA364645345	LCA5	c.789G>T (p.Arg263Ser)
6	g.79493682C>G	CA364645346	LCA5	c.789G>C (p.Arg263Ser)
6	g.79493682C>T	CA451012438	LCA5	c.789G>A (p.Arg263=)
6	g.79493683C>A	CA364645347	LCA5	c.788G>T (p.Arg263Met)
6	g.79493683C>G	CA364645348	LCA5	c.788G>C (p.Arg263Thr)
6	g.79493683C>T	CA364645349	LCA5	c.788G>A (p.Arg263Lys)	dbSNP gnomAD v3 gnomAD v4
6	g.79493684T>A	CA364645350	LCA5	c.787A>T (p.Arg263Trp)	gnomAD v4
6	g.79493684T>C	CA364645351	LCA5	c.787A>G (p.Arg263Gly)
6	g.79493684T>G	CA451012444	LCA5	c.787A>C (p.Arg263=)
6	g.79493685T>A	CA364645352	LCA5	c.786A>T (p.Lys262Asn)
6	g.79493685T>C	CA451012446	LCA5	c.786A>G (p.Lys262=)	ClinVar
6	g.79493685T>G	CA364645353	LCA5	c.786A>C (p.Lys262Asn)	gnomAD v4
6	g.79493686T>A	CA364645354	LCA5	c.785A>T (p.Lys262Ile)
6	g.79493686T>C	CA364645355	LCA5	c.785A>G (p.Lys262Arg)
6	g.79493686T>G	CA364645356	LCA5	c.785A>C (p.Lys262Thr)	COSMIC
6	g.79493687T>A	CA364645357	LCA5	c.784A>T (p.Lys262Ter)
6	g.79493687T>C	CA364645358	LCA5	c.784A>G (p.Lys262Glu)	gnomAD v3 gnomAD v4
6	g.79493687T>G	CA364645359	LCA5	c.784A>C (p.Lys262Gln)
6	g.79493688C>A	CA364645360	LCA5	c.783G>T (p.Arg261Ser)
6	g.79493688C>G	CA364645361	LCA5	c.783G>C (p.Arg261Ser)
6	g.79493688C>T	CA451012465	LCA5	c.783G>A (p.Arg261=)	COSMIC
6	g.79493689dup	CA2679482338	LCA5	c.783dup (p.Lys262GlufsTer5)	gnomAD v4
6	g.79493689C>A	CA364645362	LCA5	c.782G>T (p.Arg261Met)
6	g.79493689C=	CA1640630164	LCA5	c.782G= (p.Arg261=)
6	g.79493689C>G	CA364645364	LCA5	c.782G>C (p.Arg261Thr)	dbSNP gnomAD v2 gnomAD v4
6	g.79493689C>T	CA364645363	LCA5	c.782G>A (p.Arg261Lys)
6	g.79493690T>A	CA364645365	LCA5	c.781A>T (p.Arg261Trp)
6	g.79493690T>C	CA364645366	LCA5	c.781A>G (p.Arg261Gly)
6	g.79493690T>G	CA451012473	LCA5	c.781A>C (p.Arg261=)
6	g.79493691T>A	CA364645367	LCA5	c.780A>T (p.Glu260Asp)
6	g.79493691T>C	CA451012478	LCA5	c.780A>G (p.Glu260=)
6	g.79493691T>G	CA364645368	LCA5	c.780A>C (p.Glu260Asp)	dbSNP gnomAD v2 gnomAD v4
6	g.79493691T=	CA1640630165	LCA5	c.780A= (p.Glu260=)
6	g.79493692T>A	CA364645369	LCA5	c.779A>T (p.Glu260Val)
6	g.79493692T>C	CA364645371	LCA5	c.779A>G (p.Glu260Gly)	ClinVar dbSNP
6	g.79493692T>G	CA364645370	LCA5	c.779A>C (p.Glu260Ala)
6	g.79493693C>A	CA364645372	LCA5	c.778G>T (p.Glu260Ter)
6	g.79493693C>G	CA364645373	LCA5	c.778G>C (p.Glu260Gln)
6	g.79493693C>T	CA364645374	LCA5	c.778G>A (p.Glu260Lys)
6	g.79493694A=	CA1640630166	LCA5	c.777T= (p.Ala259=)
6	g.79493694A>C	CA451012491	LCA5	c.777T>G (p.Ala259=)
6	g.79493694A>G	CA451012492	LCA5	c.777T>C (p.Ala259=)	dbSNP gnomAD v4
6	g.79493694A>T	CA451012494	LCA5	c.777T>A (p.Ala259=)
6	g.79493695G>A	CA364645375	LCA5	c.776C>T (p.Ala259Val)	dbSNP
6	g.79493695G>C	CA364645376	LCA5	c.776C>G (p.Ala259Gly)	gnomAD v4
6	g.79493695G=	CA1640630167	LCA5	c.776C= (p.Ala259=)
6	g.79493695G>T	CA364645377	LCA5	c.776C>A (p.Ala259Asp)
6	g.79493696C>A	CA364645378	LCA5	c.775G>T (p.Ala259Ser)	dbSNP gnomAD v2 gnomAD v4
6	g.79493696C=	CA1640630168	LCA5	c.775G= (p.Ala259=)
6	g.79493696C>G	CA364645379	LCA5	c.775G>C (p.Ala259Pro)
6	g.79493696C>T	CA364645380	LCA5	c.775G>A (p.Ala259Thr)	ClinVar dbSNP
6	g.79493697A>C	CA451012510	LCA5	c.774T>G (p.Leu258=)
6	g.79493697A>G	CA451012511	LCA5	c.774T>C (p.Leu258=)
6	g.79493697A>T	CA451012513	LCA5	c.774T>A (p.Leu258=)
6	g.79493698A=	CA1640630169	LCA5	c.773T= (p.Leu258=)
6	g.79493698A>C	CA364645381	LCA5	c.773T>G (p.Leu258Arg)
6	g.79493698A>G	CA364645382	LCA5	c.773T>C (p.Leu258Pro)	dbSNP gnomAD v2 gnomAD v4
6	g.79493698A>T	CA364645383	LCA5	c.773T>A (p.Leu258His)
6	g.79493699G>A	CA364645385	LCA5	c.772C>T (p.Leu258Phe)
6	g.79493699G>C	CA364645386	LCA5	c.772C>G (p.Leu258Val)
6	g.79493699G>T	CA364645384	LCA5	c.772C>A (p.Leu258Ile)	gnomAD v4
6	g.79493700C>A	CA364645387	LCA5	c.771G>T (p.Leu257Phe)
6	g.79493700C>G	CA364645388	LCA5	c.771G>C (p.Leu257Phe)
6	g.79493700C>T	CA451012534	LCA5	c.771G>A (p.Leu257=)	gnomAD v4
6	g.79493701A>C	CA364645389	LCA5	c.770T>G (p.Leu257Trp)
6	g.79493701A>G	CA364645391	LCA5	c.770T>C (p.Leu257Ser)
6	g.79493701A>T	CA364645390	LCA5	c.770T>A (p.Leu257Ter)
6	g.79493702A>C	CA364645392	LCA5	c.769T>G (p.Leu257Val)
6	g.79493702A>G	CA451012547	LCA5	c.769T>C (p.Leu257=)
6	g.79493702A>T	CA364645393	LCA5	c.769T>A (p.Leu257Met)
6	g.79493703C>A	CA364645394	LCA5	c.768G>T (p.Gln256His)	gnomAD v4
6	g.79493703C=	CA1640630170	LCA5	c.768G= (p.Gln256=)
6	g.79493703C>G	CA364645395	LCA5	c.768G>C (p.Gln256His)
6	g.79493703C>T	CA3901028	LCA5	c.768G>A (p.Gln256=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493704T>A	CA364645396	LCA5	c.767A>T (p.Gln256Leu)	gnomAD v4
6	g.79493704T>C	CA364645397	LCA5	c.767A>G (p.Gln256Arg)
6	g.79493704T>G	CA364645398	LCA5	c.767A>C (p.Gln256Pro)
6	g.79493705G>A	CA364645399	LCA5	c.766C>T (p.Gln256Ter)	ClinVar gnomAD v4
6	g.79493705G>C	CA364645400	LCA5	c.766C>G (p.Gln256Glu)
6	g.79493705G>T	CA364645401	LCA5	c.766C>A (p.Gln256Lys)
6	g.79493706T>A	CA451012574	LCA5	c.765A>T (p.Arg255=)
6	g.79493706T>C	CA451012577	LCA5	c.765A>G (p.Arg255=)
6	g.79493706T>G	CA451012579	LCA5	c.765A>C (p.Arg255=)
6	g.79493707C>A	CA364645402	LCA5	c.764G>T (p.Arg255Leu)	COSMIC
6	g.79493707C=	CA1640630171	LCA5	c.764G= (p.Arg255=)
6	g.79493707C>G	CA364645403	LCA5	c.764G>C (p.Arg255Pro)
6	g.79493707C>T	CA234219	LCA5	c.764G>A (p.Arg255Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493708G>A	CA3901029	LCA5	c.763C>T (p.Arg255Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493708G>C	CA364645404	LCA5	c.763C>G (p.Arg255Gly)	gnomAD v4
6	g.79493708G=	CA1640630172	LCA5	c.763C= (p.Arg255=)
6	g.79493708G>T	CA451012602	LCA5	c.763C>A (p.Arg255=)	dbSNP gnomAD v3 gnomAD v4
6	g.79493709_79493711del	CA2580075899	LCA5	c.761_763del (p.Gln254del)	ClinVar
6	g.79493709T>A	CA364645405	LCA5	c.762A>T (p.Gln254His)
6	g.79493709T>C	CA451012606	LCA5	c.762A>G (p.Gln254=)	gnomAD v4
6	g.79493709T>G	CA364645406	LCA5	c.762A>C (p.Gln254His)
6	g.79493710T>A	CA364645407	LCA5	c.761A>T (p.Gln254Leu)
6	g.79493710T>C	CA364645409	LCA5	c.761A>G (p.Gln254Arg)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493710T>G	CA364645408	LCA5	c.761A>C (p.Gln254Pro)
6	g.79493710T=	CA1640630173	LCA5	c.761A= (p.Gln254=)
6	g.79493711G>A	CA364645410	LCA5	c.760C>T (p.Gln254Ter)
6	g.79493711G>C	CA364645411	LCA5	c.760C>G (p.Gln254Glu)
6	g.79493711G>T	CA364645412	LCA5	c.760C>A (p.Gln254Lys)
6	g.79493712G>A	CA3901030	LCA5	c.759C>T (p.Phe253=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493712G>C	CA364645413	LCA5	c.759C>G (p.Phe253Leu)
6	g.79493712G=	CA1640630174	LCA5	c.759C= (p.Phe253=)
6	g.79493712G>T	CA364645414	LCA5	c.759C>A (p.Phe253Leu)
6	g.79493713A>C	CA364645415	LCA5	c.758T>G (p.Phe253Cys)
6	g.79493713A>G	CA364645416	LCA5	c.758T>C (p.Phe253Ser)	gnomAD v4
6	g.79493713A>T	CA364645417	LCA5	c.758T>A (p.Phe253Tyr)
6	g.79493714A>C	CA364645420	LCA5	c.757T>G (p.Phe253Val)
6	g.79493714A>G	CA364645419	LCA5	c.757T>C (p.Phe253Leu)
6	g.79493714A>T	CA364645418	LCA5	c.757T>A (p.Phe253Ile)
6	g.79493715A=	CA1640630175	LCA5	c.756T= (p.Ser252=)
6	g.79493715A>C	CA364645421	LCA5	c.756T>G (p.Ser252Arg)
6	g.79493715A>G	CA3901031	LCA5	c.756T>C (p.Ser252=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6	g.79493715A>T	CA364645422	LCA5	c.756T>A (p.Ser252Arg)
6	g.79493716C>A	CA364645423	LCA5	c.755G>T (p.Ser252Ile)
6	g.79493716C>G	CA364645424	LCA5	c.755G>C (p.Ser252Thr)
6	g.79493716C>T	CA364645425	LCA5	c.755G>A (p.Ser252Asn)
6	g.79493717T>A	CA364645428	LCA5	c.754A>T (p.Ser252Cys)
6	g.79493717T>C	CA364645426	LCA5	c.754A>G (p.Ser252Gly)	dbSNP gnomAD v2 gnomAD v4
6	g.79493717T>G	CA364645427	LCA5	c.754A>C (p.Ser252Arg)
6	g.79493717T=	CA1640630176	LCA5	c.754A= (p.Ser252=)
6	g.79493718_79493719del	CA2578676750	LCA5	c.753_754del (p.Asn251LysfsTer9)	ClinVar gnomAD v4
6	g.79493718G>A	CA451012644	LCA5	c.753C>T (p.Asn251=)
6	g.79493718G>C	CA364645429	LCA5	c.753C>G (p.Asn251Lys)
6	g.79493718G>T	CA364645430	LCA5	c.753C>A (p.Asn251Lys)
6	g.79493719T>A	CA364645431	LCA5	c.752A>T (p.Asn251Ile)
6	g.79493719T>C	CA364645432	LCA5	c.752A>G (p.Asn251Ser)	ClinVar dbSNP gnomAD v4
6	g.79493719T>G	CA364645433	LCA5	c.752A>C (p.Asn251Thr)
6	g.79493719T=	CA1640630177	LCA5	c.752A= (p.Asn251=)
6	g.79493720T>A	CA364645434	LCA5	c.751A>T (p.Asn251Tyr)
6	g.79493720T>C	CA364645436	LCA5	c.751A>G (p.Asn251Asp)	dbSNP gnomAD v3 gnomAD v4
6	g.79493720T>G	CA364645435	LCA5	c.751A>C (p.Asn251His)
6	g.79493720T=	CA1640630178	LCA5	c.751A= (p.Asn251=)
6	g.79493720_79493727delinsTAGTACTC	CA1640630179	LCA5	c.744_751delinsGAGTACTA (p.Leu248=)
6	g.79493721A=	CA1640630180	LCA5	c.750T= (p.Thr250=)
6	g.79493721A>C	CA451012666	LCA5	c.750T>G (p.Thr250=)
6	g.79493721A>G	CA451012669	LCA5	c.750T>C (p.Thr250=)	ClinVar dbSNP gnomAD v4
6	g.79493721A>T	CA451012671	LCA5	c.750T>A (p.Thr250=)
6	g.79493724_79493730del	CA1090933186	LCA5	c.744_750del (p.Ser249ThrfsTer?)	ClinVar dbSNP gnomAD v3 gnomAD v4
6	g.79493722G>A	CA364645437	LCA5	c.749C>T (p.Thr250Ile)	dbSNP gnomAD v2
6	g.79493722G>C	CA364645438	LCA5	c.749C>G (p.Thr250Ser)
6	g.79493722G=	CA1640630181	LCA5	c.749C= (p.Thr250=)
6	g.79493722G>T	CA364645439	LCA5	c.749C>A (p.Thr250Asn)
6	g.79493723T>A	CA364645440	LCA5	c.748A>T (p.Thr250Ser)
6	g.79493723T>C	CA364645441	LCA5	c.748A>G (p.Thr250Ala)	dbSNP
6	g.79493723T>G	CA364645442	LCA5	c.748A>C (p.Thr250Pro)
6	g.79493723T=	CA1640630182	LCA5	c.748A= (p.Thr250=)
6	g.79493724A>C	CA364645443	LCA5	c.747T>G (p.Ser249Arg)	gnomAD v4
6	g.79493724A>G	CA451012682	LCA5	c.747T>C (p.Ser249=)
6	g.79493724A>T	CA364645444	LCA5	c.747T>A (p.Ser249Arg)
6	g.79493725C>A	CA364645445	LCA5	c.746G>T (p.Ser249Ile)
6	g.79493725C=	CA1640630183	LCA5	c.746G= (p.Ser249=)
6	g.79493725C>G	CA364645446	LCA5	c.746G>C (p.Ser249Thr)	dbSNP gnomAD v2 gnomAD v4
6	g.79493725C>T	CA364645447	LCA5	c.746G>A (p.Ser249Asn)	gnomAD v4
6	g.79493726T>A	CA364645450	LCA5	c.745A>T (p.Ser249Cys)
6	g.79493726T>C	CA364645449	LCA5	c.745A>G (p.Ser249Gly)
6	g.79493726T>G	CA364645448	LCA5	c.745A>C (p.Ser249Arg)
6	g.79493727C>A	CA451012693	LCA5	c.744G>T (p.Leu248=)
6	g.79493727C=	CA1640630184	LCA5	c.744G= (p.Leu248=)
6	g.79493727C>G	CA451012695	LCA5	c.744G>C (p.Leu248=)
6	g.79493727C>T	CA3901032	LCA5	c.744G>A (p.Leu248=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493728A>C	CA364645451	LCA5	c.743T>G (p.Leu248Arg)
6	g.79493728A>G	CA364645453	LCA5	c.743T>C (p.Leu248Pro)
6	g.79493728A>T	CA364645452	LCA5	c.743T>A (p.Leu248Gln)
6	g.79493729G>A	CA451012705	LCA5	c.742C>T (p.Leu248=)	ClinVar dbSNP gnomAD v4
6	g.79493729G>C	CA364645454	LCA5	c.742C>G (p.Leu248Val)
6	g.79493729G>T	CA364645455	LCA5	c.742C>A (p.Leu248Met)
6	g.79493730T>A	CA364645456	LCA5	c.741A>T (p.Glu247Asp)
6	g.79493730T>C	CA3901033	LCA5	c.741A>G (p.Glu247=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493730T>G	CA364645457	LCA5	c.741A>C (p.Glu247Asp)
6	g.79493730T=	CA1640630185	LCA5	c.741A= (p.Glu247=)
6	g.79493731T>A	CA364645458	LCA5	c.740A>T (p.Glu247Val)
6	g.79493731T>C	CA364645459	LCA5	c.740A>G (p.Glu247Gly)
6	g.79493731T>G	CA364645460	LCA5	c.740A>C (p.Glu247Ala)
6	g.79493732C>A	CA364645461	LCA5	c.739G>T (p.Glu247Ter)
6	g.79493732C>G	CA364645462	LCA5	c.739G>C (p.Glu247Gln)
6	g.79493732C>T	CA364645463	LCA5	c.739G>A (p.Glu247Lys)
6	g.79493733A>C	CA451012725	LCA5	c.738T>G (p.Leu246=)	ClinVar dbSNP
6	g.79493733A>G	CA451012737	LCA5	c.738T>C (p.Leu246=)	gnomAD v4
6	g.79493733A>T	CA451012739	LCA5	c.738T>A (p.Leu246=)
6	g.79493734del	CA2528837337	LCA5	c.738del (p.Glu247AsnfsTer2)
6	g.79493734A>C	CA364645466	LCA5	c.737T>G (p.Leu246Arg)
6	g.79493734A>G	CA364645465	LCA5	c.737T>C (p.Leu246Pro)
6	g.79493734A>T	CA364645464	LCA5	c.737T>A (p.Leu246His)
6	g.79493735G>A	CA364645467	LCA5	c.736C>T (p.Leu246Phe)
6	g.79493735G>C	CA3901034	LCA5	c.736C>G (p.Leu246Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493735G=	CA1640630186	LCA5	c.736C= (p.Leu246=)
6	g.79493735G>T	CA364645468	LCA5	c.736C>A (p.Leu246Ile)
6	g.79493736G>A	CA3901035	LCA5	c.735C>T (p.Asn245=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6	g.79493736G>C	CA364645469	LCA5	c.735C>G (p.Asn245Lys)
6	g.79493736G=	CA1640630187	LCA5	c.735C= (p.Asn245=)
6	g.79493736G>T	CA364645470	LCA5	c.735C>A (p.Asn245Lys)
6	g.79493737T>A	CA364645471	LCA5	c.734A>T (p.Asn245Ile)	dbSNP gnomAD v4
6	g.79493737T>C	CA364645472	LCA5	c.734A>G (p.Asn245Ser)
6	g.79493737T>G	CA364645473	LCA5	c.734A>C (p.Asn245Thr)
6	g.79493737T=	CA1640630188	LCA5	c.734A= (p.Asn245=)
6	g.79493738T>A	CA364645474	LCA5	c.733A>T (p.Asn245Tyr)
6	g.79493738T>C	CA364645475	LCA5	c.733A>G (p.Asn245Asp)	dbSNP
6	g.79493738T>G	CA364645476	LCA5	c.733A>C (p.Asn245His)
6	g.79493739T>A	CA364645478	LCA5	c.732A>T (p.Lys244Asn)
6	g.79493739T>C	CA451012759	LCA5	c.732A>G (p.Lys244=)
6	g.79493739T>G	CA364645477	LCA5	c.732A>C (p.Lys244Asn)
6	g.79493740T>A	CA364645479	LCA5	c.731A>T (p.Lys244Ile)	dbSNP
6	g.79493740T>C	CA364645480	LCA5	c.731A>G (p.Lys244Arg)	gnomAD v4
6	g.79493740T>G	CA364645481	LCA5	c.731A>C (p.Lys244Thr)
6	g.79493740T=	CA1640630189	LCA5	c.731A= (p.Lys244=)
6	g.79493741T>A	CA364645482	LCA5	c.730A>T (p.Lys244Ter)
6	g.79493741T>C	CA364645483	LCA5	c.730A>G (p.Lys244Glu)
6	g.79493741T>G	CA3901036	LCA5	c.730A>C (p.Lys244Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
6	g.79493741T=	CA1640630190	LCA5	c.730A= (p.Lys244=)
6	g.79493742C>A	CA451012779	LCA5	c.729G>T (p.Ser243=)	dbSNP
6	g.79493742C=	CA1640630191	LCA5	c.729G= (p.Ser243=)
6	g.79493742C>G	CA451012783	LCA5	c.729G>C (p.Ser243=)
6	g.79493742C>T	CA3901037	LCA5	c.729G>A (p.Ser243=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC

Number of alleles fetched