Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
1	g.94008218G>A	CA740505592	ABCA4	c.5898+17C>T (n.5898+17C>T) n.314+17C>T c.2274+17C>T (n.2274+17C>T)	dbSNP gnomAD v3 gnomAD v4
1	g.94008218G=	CA1181403286	ABCA4	c.5898+17C= (n.5898+17C=) n.314+17C= c.2274+17C= (n.2274+17C=)
1	g.94008218G>T	CA2646646371	ABCA4	c.5898+17C>A (n.5898+17C>A) n.314+17C>A c.2274+17C>A (n.2274+17C>A)	gnomAD v4
1	g.94008221T>G	CA2646646373	ABCA4	c.5898+14A>C (n.5898+14A>C) n.314+14A>C c.2274+14A>C (n.2274+14A>C)	gnomAD v4
1	g.94008221_94008222del	CA2574438113	ABCA4	c.5898+13_5898+14del (n.5898+13_5898+14del) n.314+13_314+14del c.2274+13_2274+14del (n.2274+13_2274+14del)
1	g.94008223C>T	CA2573339424	ABCA4	c.5898+12G>A (n.5898+12G>A) n.314+12G>A c.2274+12G>A (n.2274+12G>A)	ClinVar
1	g.94008224A>G	CA2646646375	ABCA4	c.5898+11T>C (n.5898+11T>C) n.314+11T>C c.2274+11T>C (n.2274+11T>C)	gnomAD v4
1	g.94008225G>T	CA2573132686	ABCA4	c.5898+10C>A (n.5898+10C>A) n.314+10C>A c.2274+10C>A (n.2274+10C>A)	ClinVar dbSNP
1	g.94008226A=	CA1181403288	ABCA4	c.5898+9T= (n.5898+9T=) n.314+9T= c.2274+9T= (n.2274+9T=)
1	g.94008226A>G	CA957087	ABCA4	c.5898+9T>C (n.5898+9T>C) n.314+9T>C c.2274+9T>C (n.2274+9T>C)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1	g.94008227G>A	CA26837021	ABCA4	c.5898+8C>T (n.5898+8C>T) n.314+8C>T c.2274+8C>T (n.2274+8C>T)	dbSNP gnomAD v4
1	g.94008227G=	CA1181403290	ABCA4	c.5898+8C= (n.5898+8C=) n.314+8C= c.2274+8C= (n.2274+8C=)
1	g.94008228T>A	CA2646646376	ABCA4	c.5898+7A>T (n.5898+7A>T) n.314+7A>T c.2274+7A>T (n.2274+7A>T)	gnomAD v4
1	g.94008228T>C	CA2646646377	ABCA4	c.5898+7A>G (n.5898+7A>G) n.314+7A>G c.2274+7A>G (n.2274+7A>G)	gnomAD v4
1	g.94008229A=	CA1141585931	ABCA4	c.5898+6T= (n.5898+6T=) n.314+6T= c.2274+6T= (n.2274+6T=)
1	g.94008229A>C	CA1181403292	ABCA4	c.5898+6T>G (n.5898+6T>G) n.314+6T>G c.2274+6T>G (n.2274+6T>G)	dbSNP
1	g.94008229A>G	CA957088	ABCA4	c.5898+6T>C (n.5898+6T>C) n.314+6T>C c.2274+6T>C (n.2274+6T>C)	dbSNP ExAC gnomAD v3 gnomAD v4
1	g.94008229_94008230delinsAC	CA1181403294	ABCA4	c.5898+5_5898+6delinsGT (n.5898+5_5898+6delinsGT) n.314+5_314+6delinsGT c.2274+5_2274+6delinsGT (n.2274+5_2274+6delinsGT)
1	g.94008230C=	CA1181403297	ABCA4	c.5898+5G= (n.5898+5G=) n.314+5G= c.2274+5G= (n.2274+5G=)
1	g.94008230C>G	CA957089	ABCA4	c.5898+5G>C (n.5898+5G>C) n.314+5G>C c.2274+5G>C (n.2274+5G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.94008230C>T	CA740505599	ABCA4	c.5898+5G>A (n.5898+5G>A) n.314+5G>A c.2274+5G>A (n.2274+5G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
1	g.94008232del	CA16609666	ABCA4	c.5898+5del (n.5898+5del) n.314+5del c.2274+5del (n.2274+5del)	ClinVar dbSNP
1	g.94008231C=	CA1181403300	ABCA4	c.5898+4G= (n.5898+4G=) n.314+4G= c.2274+4G= (n.2274+4G=)
1	g.94008231C>G	CA740505601	ABCA4	c.5898+4G>C (n.5898+4G>C) n.314+4G>C c.2274+4G>C (n.2274+4G>C)	dbSNP gnomAD v3 gnomAD v4
1	g.94008233A>C	CA341279813	ABCA4	c.5898+2T>G (n.5898+2T>G) n.314+2T>G c.2274+2T>G (n.2274+2T>G)
1	g.94008233A>G	CA341279815	ABCA4	c.5898+2T>C (n.5898+2T>C) n.314+2T>C c.2274+2T>C (n.2274+2T>C)	ClinVar dbSNP
1	g.94008233A>T	CA341279817	ABCA4	c.5898+2T>A (n.5898+2T>A) n.314+2T>A c.2274+2T>A (n.2274+2T>A)
1	g.94008234C>A	CA227352	ABCA4	c.5898+1G>T (n.5898+1G>T) n.314+1G>T c.2274+1G>T (n.2274+1G>T)	ClinVar dbSNP
1	g.94008234C=	CA1140726065	ABCA4	c.5898+1G= (n.5898+1G=) n.314+1G= c.2274+1G= (n.2274+1G=)
1	g.94008234C>G	CA341279818	ABCA4	c.5898+1G>C (n.5898+1G>C) n.314+1G>C c.2274+1G>C (n.2274+1G>C)
1	g.94008234C>T	CA16603700	ABCA4	c.5898+1G>A (n.5898+1G>A) n.314+1G>A c.2274+1G>A (n.2274+1G>A)	ClinVar dbSNP gnomAD v4
1	g.94008235C>A	CA341279819	ABCA4	c.5898G>T (p.Glu1966Asp) n.314G>T c.2274G>T (p.Glu758Asp)	gnomAD v4
1	g.94008235C=	CA1181403312	ABCA4	c.5898G= (p.Glu1966=) n.314G= c.2274G= (p.Glu758=)
1	g.94008235C>G	CA341279820	ABCA4	c.5898G>C (p.Glu1966Asp) n.314G>C c.2274G>C (p.Glu758Asp)
1	g.94008235C>T	CA418813987	ABCA4	c.5898G>A (p.Glu1966=) n.314G>A c.2274G>A (p.Glu758=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008236T>A	CA341279821	ABCA4	c.5897A>T (p.Glu1966Val) n.313A>T c.2273A>T (p.Glu758Val)
1	g.94008236T>C	CA341279822	ABCA4	c.5897A>G (p.Glu1966Gly) n.313A>G c.2273A>G (p.Glu758Gly)
1	g.94008236T>G	CA341279823	ABCA4	c.5897A>C (p.Glu1966Ala) n.313A>C c.2273A>C (p.Glu758Ala)
1	g.94008237C>A	CA341279824	ABCA4	c.5896G>T (p.Glu1966Ter) n.312G>T c.2272G>T (p.Glu758Ter)
1	g.94008237C>G	CA341279825	ABCA4	c.5896G>C (p.Glu1966Gln) n.312G>C c.2272G>C (p.Glu758Gln)
1	g.94008237C>T	CA341279826	ABCA4	c.5896G>A (p.Glu1966Lys) n.312G>A c.2272G>A (p.Glu758Lys)
1	g.94008238T>A	CA418813990	ABCA4	c.5895A>T (p.Gly1965=) n.311A>T c.2271A>T (p.Gly757=)
1	g.94008238T>C	CA418813992	ABCA4	c.5895A>G (p.Gly1965=) n.311A>G c.2271A>G (p.Gly757=)
1	g.94008238T>G	CA418813993	ABCA4	c.5895A>C (p.Gly1965=) n.311A>C c.2271A>C (p.Gly757=)
1	g.94008239C>A	CA341279827	ABCA4	c.5894G>T (p.Gly1965Val) n.310G>T c.2270G>T (p.Gly757Val)
1	g.94008239C>G	CA341279828	ABCA4	c.5894G>C (p.Gly1965Ala) n.310G>C c.2270G>C (p.Gly757Ala)
1	g.94008239C>T	CA341279829	ABCA4	c.5894G>A (p.Gly1965Glu) n.310G>A c.2270G>A (p.Gly757Glu)
1	g.94008240C>A	CA341279830	ABCA4	c.5893G>T (p.Gly1965Ter) n.309G>T c.2269G>T (p.Gly757Ter)
1	g.94008240C>G	CA341279831	ABCA4	c.5893G>C (p.Gly1965Arg) n.309G>C c.2269G>C (p.Gly757Arg)
1	g.94008240C>T	CA341279832	ABCA4	c.5893G>A (p.Gly1965Arg) n.309G>A c.2269G>A (p.Gly757Arg)
1	g.94008241del	CA645372218	ABCA4	c.5892del (p.Gly1965GlufsTer9) n.308del c.2268del (p.Gly757GlufsTer9)
1	g.94008241A>C	CA418813994	ABCA4	c.5892T>G (p.Pro1964=) n.308T>G c.2268T>G (p.Pro756=)
1	g.94008241A>G	CA418813995	ABCA4	c.5892T>C (p.Pro1964=) n.308T>C c.2268T>C (p.Pro756=)
1	g.94008241A>T	CA418813996	ABCA4	c.5892T>A (p.Pro1964=) n.308T>A c.2268T>A (p.Pro756=)	gnomAD v4
1	g.94008242G>A	CA957090	ABCA4	c.5891C>T (p.Pro1964Leu) n.307C>T c.2267C>T (p.Pro756Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.94008242G>C	CA341279833	ABCA4	c.5891C>G (p.Pro1964Arg) n.307C>G c.2267C>G (p.Pro756Arg)
1	g.94008242G=	CA1181403318	ABCA4	c.5891C= (p.Pro1964=) n.307C= c.2267C= (p.Pro756=)
1	g.94008242G>T	CA341279834	ABCA4	c.5891C>A (p.Pro1964His) n.307C>A c.2267C>A (p.Pro756His)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008244del	CA2837994678	ABCA4	c.5891del (p.Pro1964LeufsTer10) n.307del c.2267del (p.Pro756LeufsTer10)
1	g.94008243G>A	CA341279835	ABCA4	c.5890C>T (p.Pro1964Ser) n.306C>T c.2266C>T (p.Pro756Ser)	dbSNP gnomAD v2 gnomAD v4
1	g.94008243G>C	CA341279836	ABCA4	c.5890C>G (p.Pro1964Ala) n.306C>G c.2266C>G (p.Pro756Ala)
1	g.94008243G=	CA1181403321	ABCA4	c.5890C= (p.Pro1964=) n.306C= c.2266C= (p.Pro756=)
1	g.94008243G>T	CA341279837	ABCA4	c.5890C>A (p.Pro1964Thr) n.306C>A c.2266C>A (p.Pro756Thr)
1	g.94008244G>A	CA418814000	ABCA4	c.5889C>T (p.Arg1963=) n.305C>T c.2265C>T (p.Arg755=)	dbSNP
1	g.94008244G>C	CA418814001	ABCA4	c.5889C>G (p.Arg1963=) n.305C>G c.2265C>G (p.Arg755=)
1	g.94008244G=	CA1181403325	ABCA4	c.5889C= (p.Arg1963=) n.305C= c.2265C= (p.Arg755=)
1	g.94008244G>T	CA418814002	ABCA4	c.5889C>A (p.Arg1963=) n.305C>A c.2265C>A (p.Arg755=)	gnomAD v4
1	g.94008244_94008245delinsGC	CA1181403324	ABCA4	c.5888_5889delinsGC (p.Arg1963=) n.304_305delinsGC c.2264_2265delinsGC (p.Arg755=)
1	g.94008245del	CA227351	ABCA4	c.5888del (p.Arg1963ProfsTer11) n.304del c.2264del (p.Arg755ProfsTer11)	ClinVar dbSNP
1	g.94008245C>A	CA341279838	ABCA4	c.5888G>T (p.Arg1963Leu) n.304G>T c.2264G>T (p.Arg755Leu)	ClinVar dbSNP
1	g.94008245C=	CA1140762682	ABCA4	c.5888G= (p.Arg1963=) n.304G= c.2264G= (p.Arg755=)
1	g.94008245C>G	CA341279839	ABCA4	c.5888G>C (p.Arg1963Pro) n.304G>C c.2264G>C (p.Arg755Pro)
1	g.94008245C>T	CA957091	ABCA4	c.5888G>A (p.Arg1963His) n.304G>A c.2264G>A (p.Arg755His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1	g.94008246G>A	CA957092	ABCA4	c.5887C>T (p.Arg1963Cys) n.303C>T c.2263C>T (p.Arg755Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1	g.94008246G>C	CA341279840	ABCA4	c.5887C>G (p.Arg1963Gly) n.303C>G c.2263C>G (p.Arg755Gly)
1	g.94008246G=	CA1181403335	ABCA4	c.5887C= (p.Arg1963=) n.303C= c.2263C= (p.Arg755=)
1	g.94008246G>T	CA341279841	ABCA4	c.5887C>A (p.Arg1963Ser) n.303C>A c.2263C>A (p.Arg755Ser)	ClinVar gnomAD v4
1	g.94008247A=	CA1140762683	ABCA4	c.5886T= (p.Val1962=) n.302T= c.2262T= (p.Val754=)
1	g.94008247A>C	CA418814003	ABCA4	c.5886T>G (p.Val1962=) n.302T>G c.2262T>G (p.Val754=)
1	g.94008247A>G	CA227349	ABCA4	c.5886T>C (p.Val1962=) n.302T>C c.2262T>C (p.Val754=)	ClinVar dbSNP gnomAD v4
1	g.94008247A>T	CA418814005	ABCA4	c.5886T>A (p.Val1962=) n.302T>A c.2262T>A (p.Val754=)
1	g.94008248A=	CA1148449942	ABCA4	c.5885T= (p.Val1962=) n.301T= c.2261T= (p.Val754=)
1	g.94008248A>C	CA341279843	ABCA4	c.5885T>G (p.Val1962Gly) n.301T>G c.2261T>G (p.Val754Gly)
1	g.94008248A>G	CA957093	ABCA4	c.5885T>C (p.Val1962Ala) n.301T>C c.2261T>C (p.Val754Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008248A>T	CA341279842	ABCA4	c.5885T>A (p.Val1962Asp) n.301T>A c.2261T>A (p.Val754Asp)	dbSNP gnomAD v4
1	g.94008249C>A	CA341279844	ABCA4	c.5884G>T (p.Val1962Phe) n.300G>T c.2260G>T (p.Val754Phe)
1	g.94008249C=	CA1181403347	ABCA4	c.5884G= (p.Val1962=) n.300G= c.2260G= (p.Val754=)
1	g.94008249C>G	CA341279845	ABCA4	c.5884G>C (p.Val1962Leu) n.300G>C c.2260G>C (p.Val754Leu)
1	g.94008249C>T	CA341279846	ABCA4	c.5884G>A (p.Val1962Ile) n.300G>A c.2260G>A (p.Val754Ile)	dbSNP
1	g.94008250T>A	CA418814006	ABCA4	c.5883A>T (p.Gly1961=) n.299A>T c.2259A>T (p.Gly753=)
1	g.94008250T>C	CA418814007	ABCA4	c.5883A>G (p.Gly1961=) n.299A>G c.2259A>G (p.Gly753=)	gnomAD v4
1	g.94008250T>G	CA418814008	ABCA4	c.5883A>C (p.Gly1961=) n.299A>C c.2259A>C (p.Gly753=)	gnomAD v4
1	g.94008251C>A	CA341279847	ABCA4	c.5882G>T (p.Gly1961Val) n.298G>T c.2258G>T (p.Gly753Val)
1	g.94008251C=	CA1139894822	ABCA4	c.5882G= (p.Gly1961=) n.298G= c.2258G= (p.Gly753=)
1	g.94008251C>G	CA341279848	ABCA4	c.5882G>C (p.Gly1961Ala) n.298G>C c.2258G>C (p.Gly753Ala)
1	g.94008251C>T	CA119132	ABCA4	c.5882G>A (p.Gly1961Glu) n.298G>A c.2258G>A (p.Gly753Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.[94008251C>T;94011334G>C]	CA913203331	ABCA4	c.[5512C>G;5882G>A] (p.[His1838Asp;Gly1961Glu]) c.[1888C>G;2258G>A] (p.[His630Asp;Gly753Glu])
1	g.94008252C>A	CA341279849	ABCA4	c.5881G>T (p.Gly1961Ter) n.297G>T c.2257G>T (p.Gly753Ter)
1	g.94008252C=	CA1141855844	ABCA4	c.5881G= (p.Gly1961=) n.297G= c.2257G= (p.Gly753=)
1	g.94008252C>G	CA341279850	ABCA4	c.5881G>C (p.Gly1961Arg) n.297G>C c.2257G>C (p.Gly753Arg)
1	g.94008252C>T	CA957094	ABCA4	c.5881G>A (p.Gly1961Arg) n.297G>A c.2257G>A (p.Gly753Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1	g.94008253G>A	CA957095	ABCA4	c.5880C>T (p.Val1960=) n.296C>T c.2256C>T (p.Val752=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1	g.94008253G>C	CA418814009	ABCA4	c.5880C>G (p.Val1960=) n.296C>G c.2256C>G (p.Val752=)
1	g.94008253G=	CA1148297047	ABCA4	c.5880C= (p.Val1960=) n.296C= c.2256C= (p.Val752=)
1	g.94008253G>T	CA418814010	ABCA4	c.5880C>A (p.Val1960=) n.296C>A c.2256C>A (p.Val752=)	gnomAD v4
1	g.94008254A>C	CA341279851	ABCA4	c.5879T>G (p.Val1960Gly) n.295T>G c.2255T>G (p.Val752Gly)
1	g.94008254A>G	CA341279853	ABCA4	c.5879T>C (p.Val1960Ala) n.295T>C c.2255T>C (p.Val752Ala)
1	g.94008254A>T	CA341279855	ABCA4	c.5879T>A (p.Val1960Asp) n.295T>A c.2255T>A (p.Val752Asp)
1	g.94008255C>A	CA341279860	ABCA4	c.5878G>T (p.Val1960Phe) n.294G>T c.2254G>T (p.Val752Phe)
1	g.94008255C=	CA1181403364	ABCA4	c.5878G= (p.Val1960=) n.294G= c.2254G= (p.Val752=)
1	g.94008255C>G	CA341279856	ABCA4	c.5878G>C (p.Val1960Leu) n.294G>C c.2254G>C (p.Val752Leu)
1	g.94008255C>T	CA341279858	ABCA4	c.5878G>A (p.Val1960Ile) n.294G>A c.2254G>A (p.Val752Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008256A=	CA1181403368	ABCA4	c.5877T= (p.Cys1959=) n.293T= c.2253T= (p.Cys751=)
1	g.94008256A>C	CA341279862	ABCA4	c.5877T>G (p.Cys1959Trp) n.293T>G c.2253T>G (p.Cys751Trp)
1	g.94008256A>G	CA957096	ABCA4	c.5877T>C (p.Cys1959=) n.293T>C c.2253T>C (p.Cys751=)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.94008256A>T	CA341279864	ABCA4	c.5877T>A (p.Cys1959Ter) n.293T>A c.2253T>A (p.Cys751Ter)
1	g.94008257C>A	CA341279867	ABCA4	c.5876G>T (p.Cys1959Phe) n.292G>T c.2252G>T (p.Cys751Phe)
1	g.94008257C>G	CA341279869	ABCA4	c.5876G>C (p.Cys1959Ser) n.292G>C c.2252G>C (p.Cys751Ser)
1	g.94008257C>T	CA341279871	ABCA4	c.5876G>A (p.Cys1959Tyr) n.292G>A c.2252G>A (p.Cys751Tyr)	ClinVar dbSNP gnomAD v4
1	g.94008258A>C	CA341279873	ABCA4	c.5875T>G (p.Cys1959Gly) n.291T>G c.2251T>G (p.Cys751Gly)
1	g.94008258A>G	CA341279875	ABCA4	c.5875T>C (p.Cys1959Arg) n.291T>C c.2251T>C (p.Cys751Arg)
1	g.94008258A>T	CA341279876	ABCA4	c.5875T>A (p.Cys1959Ser) n.291T>A c.2251T>A (p.Cys751Ser)
1	g.94008259C>A	CA418814013	ABCA4	c.5874G>T (p.Leu1958=) n.290G>T c.2250G>T (p.Leu750=)
1	g.94008259C>G	CA418814014	ABCA4	c.5874G>C (p.Leu1958=) n.290G>C c.2250G>C (p.Leu750=)
1	g.94008259C>T	CA418814015	ABCA4	c.5874G>A (p.Leu1958=) n.290G>A c.2250G>A (p.Leu750=)
1	g.94008260A>C	CA341279879	ABCA4	c.5873T>G (p.Leu1958Arg) n.289T>G c.2249T>G (p.Leu750Arg)
1	g.94008260A>G	CA341279881	ABCA4	c.5873T>C (p.Leu1958Pro) n.289T>C c.2249T>C (p.Leu750Pro)
1	g.94008260A>T	CA341279883	ABCA4	c.5873T>A (p.Leu1958Gln) n.289T>A c.2249T>A (p.Leu750Gln)
1	g.94008261G>A	CA26837062	ABCA4	c.5872C>T (p.Leu1958=) n.288C>T c.2248C>T (p.Leu750=)	dbSNP gnomAD v4
1	g.94008261G>C	CA341279887	ABCA4	c.5872C>G (p.Leu1958Val) n.288C>G c.2248C>G (p.Leu750Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008261G=	CA1181403373	ABCA4	c.5872C= (p.Leu1958=) n.288C= c.2248C= (p.Leu750=)
1	g.94008261G>T	CA341279885	ABCA4	c.5872C>A (p.Leu1958Met) n.288C>A c.2248C>A (p.Leu750Met)
1	g.94008262C>A	CA341279889	ABCA4	c.5871G>T (p.Arg1957Ser) n.287G>T c.2247G>T (p.Arg749Ser)
1	g.94008262C>G	CA341279891	ABCA4	c.5871G>C (p.Arg1957Ser) n.287G>C c.2247G>C (p.Arg749Ser)
1	g.94008262C>T	CA418814017	ABCA4	c.5871G>A (p.Arg1957=) n.287G>A c.2247G>A (p.Arg749=)
1	g.94008262_94008266delinsCCTGT	CA1181403375	ABCA4	c.5867_5871delinsACAGG (p.Asp1956=) n.283_287delinsACAGG c.2243_2247delinsACAGG (p.Asp748=)
1	g.94008263C>A	CA341279892	ABCA4	c.5870G>T (p.Arg1957Met) n.286G>T c.2246G>T (p.Arg749Met)	COSMIC
1	g.94008263C>G	CA341279897	ABCA4	c.5870G>C (p.Arg1957Thr) n.286G>C c.2246G>C (p.Arg749Thr)
1	g.94008263C>T	CA341279895	ABCA4	c.5870G>A (p.Arg1957Lys) n.286G>A c.2246G>A (p.Arg749Lys)	gnomAD v4
1	g.94008264_94008267del	CA645372342	ABCA4	c.5867_5870del (p.Asp1956GlyfsTer17) n.283_286del c.2243_2246del (p.Asp748GlyfsTer17)	ClinVar dbSNP
1	g.94008264T>A	CA341279898	ABCA4	c.5869A>T (p.Arg1957Trp) n.285A>T c.2245A>T (p.Arg749Trp)
1	g.94008264T>C	CA341279900	ABCA4	c.5869A>G (p.Arg1957Gly) n.285A>G c.2245A>G (p.Arg749Gly)
1	g.94008264T>G	CA418814018	ABCA4	c.5869A>C (p.Arg1957=) n.285A>C c.2245A>C (p.Arg749=)
1	g.94008265G>A	CA227347	ABCA4	c.5868C>T (p.Asp1956=) n.284C>T c.2244C>T (p.Asp748=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008265G>C	CA341279905	ABCA4	c.5868C>G (p.Asp1956Glu) n.284C>G c.2244C>G (p.Asp748Glu)	gnomAD v4
1	g.94008265G=	CA1140762684	ABCA4	c.5868C= (p.Asp1956=) n.284C= c.2244C= (p.Asp748=)
1	g.94008265G>T	CA341279904	ABCA4	c.5868C>A (p.Asp1956Glu) n.284C>A c.2244C>A (p.Asp748Glu)
1	g.94008266T>A	CA341279907	ABCA4	c.5867A>T (p.Asp1956Val) n.283A>T c.2243A>T (p.Asp748Val)	gnomAD v4
1	g.94008266T>C	CA341279909	ABCA4	c.5867A>G (p.Asp1956Gly) n.283A>G c.2243A>G (p.Asp748Gly)	gnomAD v4
1	g.94008266T>G	CA341279910	ABCA4	c.5867A>C (p.Asp1956Ala) n.283A>C c.2243A>C (p.Asp748Ala)
1	g.94008267C>A	CA341279912	ABCA4	c.5866G>T (p.Asp1956Tyr) n.282G>T c.2242G>T (p.Asp748Tyr)	COSMIC
1	g.94008267C>G	CA341279914	ABCA4	c.5866G>C (p.Asp1956His) n.282G>C c.2242G>C (p.Asp748His)
1	g.94008267C>T	CA341279916	ABCA4	c.5866G>A (p.Asp1956Asn) n.282G>A c.2242G>A (p.Asp748Asn)	gnomAD v4
1	g.94008268C>A	CA418814019	ABCA4	c.5865G>T (p.Val1955=) n.281G>T c.2241G>T (p.Val747=)
1	g.94008268C=	CA1181403383	ABCA4	c.5865G= (p.Val1955=) n.281G= c.2241G= (p.Val747=)
1	g.94008268C>G	CA418814020	ABCA4	c.5865G>C (p.Val1955=) n.281G>C c.2241G>C (p.Val747=)	gnomAD v4
1	g.94008268C>T	CA418814021	ABCA4	c.5865G>A (p.Val1955=) n.281G>A c.2241G>A (p.Val747=)	dbSNP gnomAD v2 gnomAD v4
1	g.94008269A=	CA1181403385	ABCA4	c.5864T= (p.Val1955=) n.280T= c.2240T= (p.Val747=)
1	g.94008269A>C	CA341279918	ABCA4	c.5864T>G (p.Val1955Gly) n.280T>G c.2240T>G (p.Val747Gly)
1	g.94008269A>G	CA341279919	ABCA4	c.5864T>C (p.Val1955Ala) n.280T>C c.2240T>C (p.Val747Ala)	dbSNP gnomAD v3 gnomAD v4
1	g.94008269A>T	CA341279921	ABCA4	c.5864T>A (p.Val1955Glu) n.280T>A c.2240T>A (p.Val747Glu)
1	g.94008270C>A	CA341279923	ABCA4	c.5863G>T (p.Val1955Leu) n.279G>T c.2239G>T (p.Val747Leu)
1	g.94008270C>G	CA341279925	ABCA4	c.5863G>C (p.Val1955Leu) n.279G>C c.2239G>C (p.Val747Leu)
1	g.94008270C>T	CA341279927	ABCA4	c.5863G>A (p.Val1955Met) n.279G>A c.2239G>A (p.Val747Met)	ClinVar dbSNP
1	g.94008271T>A	CA418814024	ABCA4	c.5862A>T (p.Ala1954=) n.278A>T c.2238A>T (p.Ala746=)
1	g.94008271T>C	CA418814025	ABCA4	c.5862A>G (p.Ala1954=) n.278A>G c.2238A>G (p.Ala746=)
1	g.94008271T>G	CA418814026	ABCA4	c.5862A>C (p.Ala1954=) n.278A>C c.2238A>C (p.Ala746=)
1	g.94008272G>A	CA341279933	ABCA4	c.5861C>T (p.Ala1954Val) n.277C>T c.2237C>T (p.Ala746Val)
1	g.94008272G>C	CA341279929	ABCA4	c.5861C>G (p.Ala1954Gly) n.277C>G c.2237C>G (p.Ala746Gly)
1	g.94008272G>T	CA341279931	ABCA4	c.5861C>A (p.Ala1954Glu) n.277C>A c.2237C>A (p.Ala746Glu)
1	g.94008273C>A	CA341279935	ABCA4	c.5860G>T (p.Ala1954Ser) n.276G>T c.2236G>T (p.Ala746Ser)
1	g.94008273C>G	CA341279937	ABCA4	c.5860G>C (p.Ala1954Pro) n.276G>C c.2236G>C (p.Ala746Pro)
1	g.94008273C>T	CA341279938	ABCA4	c.5860G>A (p.Ala1954Thr) n.276G>A c.2236G>A (p.Ala746Thr)
1	g.94008274T>A	CA418814027	ABCA4	c.5859A>T (p.Pro1953=) n.275A>T c.2235A>T (p.Pro745=)
1	g.94008274T>C	CA418814028	ABCA4	c.5859A>G (p.Pro1953=) n.275A>G c.2235A>G (p.Pro745=)
1	g.94008274T>G	CA418814029	ABCA4	c.5859A>C (p.Pro1953=) n.275A>C c.2235A>C (p.Pro745=)
1	g.94008275G>A	CA341279940	ABCA4	c.5858C>T (p.Pro1953Leu) n.274C>T c.2234C>T (p.Pro745Leu)
1	g.94008275G>C	CA341279942	ABCA4	c.5858C>G (p.Pro1953Arg) n.274C>G c.2234C>G (p.Pro745Arg)
1	g.94008275G>T	CA341279944	ABCA4	c.5858C>A (p.Pro1953Gln) n.274C>A c.2234C>A (p.Pro745Gln)
1	g.94008277del	CA2586966885	ABCA4	c.5858del (p.Pro1953GlnfsTer21) n.274del c.2234del (p.Pro745GlnfsTer21)
1	g.94008276G>A	CA341279946	ABCA4	c.5857C>T (p.Pro1953Ser) n.273C>T c.2233C>T (p.Pro745Ser)
1	g.94008276G>C	CA341279947	ABCA4	c.5857C>G (p.Pro1953Ala) n.273C>G c.2233C>G (p.Pro745Ala)
1	g.94008276G>T	CA341279948	ABCA4	c.5857C>A (p.Pro1953Thr) n.273C>A c.2233C>A (p.Pro745Thr)	gnomAD v4
1	g.94008277G>A	CA418814031	ABCA4	c.5856C>T (p.Ser1952=) n.272C>T c.2232C>T (p.Ser744=)
1	g.94008277G>C	CA341279950	ABCA4	c.5856C>G (p.Ser1952Arg) n.272C>G c.2232C>G (p.Ser744Arg)
1	g.94008277G>T	CA341279952	ABCA4	c.5856C>A (p.Ser1952Arg) n.272C>A c.2232C>A (p.Ser744Arg)
1	g.94008278C>A	CA341279958	ABCA4	c.5855G>T (p.Ser1952Ile) n.271G>T c.2231G>T (p.Ser744Ile)	gnomAD v4
1	g.94008278C>G	CA341279956	ABCA4	c.5855G>C (p.Ser1952Thr) n.271G>C c.2231G>C (p.Ser744Thr)
1	g.94008278C>T	CA341279954	ABCA4	c.5855G>A (p.Ser1952Asn) n.271G>A c.2231G>A (p.Ser744Asn)
1	g.94008279T>A	CA341279960	ABCA4	c.5854A>T (p.Ser1952Cys) n.270A>T c.2230A>T (p.Ser744Cys)
1	g.94008279T>C	CA957097	ABCA4	c.5854A>G (p.Ser1952Gly) n.270A>G c.2230A>G (p.Ser744Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.94008279T>G	CA341279966	ABCA4	c.5854A>C (p.Ser1952Arg) n.270A>C c.2230A>C (p.Ser744Arg)
1	g.94008279T=	CA1181403388	ABCA4	c.5854A= (p.Ser1952=) n.270A= c.2230A= (p.Ser744=)
1	g.94008280G>A	CA418814033	ABCA4	c.5853C>T (p.Ser1951=) n.269C>T c.2229C>T (p.Ser743=)
1	g.94008280G>C	CA418814035	ABCA4	c.5853C>G (p.Ser1951=) n.269C>G c.2229C>G (p.Ser743=)
1	g.94008280G=	CA1181403389	ABCA4	c.5853C= (p.Ser1951=) n.269C= c.2229C= (p.Ser743=)
1	g.94008280G>T	CA418814037	ABCA4	c.5853C>A (p.Ser1951=) n.269C>A c.2229C>A (p.Ser743=)	dbSNP
1	g.94008281G>A	CA341279967	ABCA4	c.5852C>T (p.Ser1951Phe) n.268C>T c.2228C>T (p.Ser743Phe)	dbSNP gnomAD v3 gnomAD v4
1	g.94008281G>C	CA341279969	ABCA4	c.5852C>G (p.Ser1951Cys) n.268C>G c.2228C>G (p.Ser743Cys)	gnomAD v4
1	g.94008281G=	CA1181403394	ABCA4	c.5852C= (p.Ser1951=) n.268C= c.2228C= (p.Ser743=)
1	g.94008281G>T	CA341279971	ABCA4	c.5852C>A (p.Ser1951Tyr) n.268C>A c.2228C>A (p.Ser743Tyr)
1	g.94008282A=	CA1181403398	ABCA4	c.5851T= (p.Ser1951=) n.267T= c.2227T= (p.Ser743=)
1	g.94008282A>C	CA341279973	ABCA4	c.5851T>G (p.Ser1951Ala) n.267T>G c.2227T>G (p.Ser743Ala)
1	g.94008282A>G	CA957098	ABCA4	c.5851T>C (p.Ser1951Pro) n.267T>C c.2227T>C (p.Ser743Pro)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008282A>T	CA341279976	ABCA4	c.5851T>A (p.Ser1951Thr) n.267T>A c.2227T>A (p.Ser743Thr)
1	g.94008283G>A	CA418814038	ABCA4	c.5850C>T (p.Thr1950=) n.266C>T c.2226C>T (p.Thr742=)
1	g.94008283G>C	CA418814039	ABCA4	c.5850C>G (p.Thr1950=) n.266C>G c.2226C>G (p.Thr742=)
1	g.94008283G>T	CA418814040	ABCA4	c.5850C>A (p.Thr1950=) n.266C>A c.2226C>A (p.Thr742=)	COSMIC COSMIC
1	g.94008284G>A	CA341279979	ABCA4	c.5849C>T (p.Thr1950Ile) n.265C>T c.2225C>T (p.Thr742Ile)	dbSNP gnomAD v3 gnomAD v4
1	g.94008284G>C	CA341279981	ABCA4	c.5849C>G (p.Thr1950Ser) n.265C>G c.2225C>G (p.Thr742Ser)
1	g.94008284G=	CA1181403401	ABCA4	c.5849C= (p.Thr1950=) n.265C= c.2225C= (p.Thr742=)
1	g.94008284G>T	CA341279982	ABCA4	c.5849C>A (p.Thr1950Asn) n.265C>A c.2225C>A (p.Thr742Asn)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008285T>A	CA341279988	ABCA4	c.5848A>T (p.Thr1950Ser) n.264A>T c.2224A>T (p.Thr742Ser)
1	g.94008285T>C	CA341279987	ABCA4	c.5848A>G (p.Thr1950Ala) n.264A>G c.2224A>G (p.Thr742Ala)	gnomAD v4
1	g.94008285T>G	CA341279985	ABCA4	c.5848A>C (p.Thr1950Pro) n.264A>C c.2224A>C (p.Thr742Pro)
1	g.94008286G>A	CA418814044	ABCA4	c.5847C>T (p.Gly1949=) n.263C>T c.2223C>T (p.Gly741=)
1	g.94008286G>C	CA418814045	ABCA4	c.5847C>G (p.Gly1949=) n.263C>G c.2223C>G (p.Gly741=)
1	g.94008286G>T	CA418814046	ABCA4	c.5847C>A (p.Gly1949=) n.263C>A c.2223C>A (p.Gly741=)
1	g.94008286_94008287delinsGC	CA1181403402	ABCA4	c.5846_5847delinsGC (p.Gly1949=) n.262_263delinsGC c.2222_2223delinsGC (p.Gly741=)
1	g.94008287C>A	CA341279991	ABCA4	c.5846G>T (p.Gly1949Val) n.262G>T c.2222G>T (p.Gly741Val)	COSMIC COSMIC
1	g.94008287C=	CA1181403405	ABCA4	c.5846G= (p.Gly1949=) n.262G= c.2222G= (p.Gly741=)
1	g.94008287C>G	CA341279993	ABCA4	c.5846G>C (p.Gly1949Ala) n.262G>C c.2222G>C (p.Gly741Ala)
1	g.94008287C>T	CA341279994	ABCA4	c.5846G>A (p.Gly1949Asp) n.262G>A c.2222G>A (p.Gly741Asp)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008288del	CA916082049	ABCA4	c.5846del (p.Gly1949AlafsTer25) n.262del c.2222del (p.Gly741AlafsTer25)	ClinVar dbSNP
1	g.94008288C>A	CA341279997	ABCA4	c.5845G>T (p.Gly1949Cys) n.261G>T c.2221G>T (p.Gly741Cys)
1	g.94008288C>G	CA341279999	ABCA4	c.5845G>C (p.Gly1949Arg) n.261G>C c.2221G>C (p.Gly741Arg)
1	g.94008288C>T	CA341280000	ABCA4	c.5845G>A (p.Gly1949Ser) n.261G>A c.2221G>A (p.Gly741Ser)
1	g.94008289T>A	CA418814048	ABCA4	c.5844A>T (p.Pro1948=) n.260A>T c.2220A>T (p.Pro740=)
1	g.94008289T>C	CA179690	ABCA4	c.5844A>G (p.Pro1948=) n.260A>G c.2220A>G (p.Pro740=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008289T>G	CA418814050	ABCA4	c.5844A>C (p.Pro1948=) n.260A>C c.2220A>C (p.Pro740=)
1	g.94008289T=	CA1139925677	ABCA4	c.5844A= (p.Pro1948=) n.260A= c.2220A= (p.Pro740=)
1	g.94008289_94008290del	CA2830782584	ABCA4	c.5843_5844del (p.Pro1948ArgfsTer?) n.259_260del c.2219_2220del (p.Pro740ArgfsTer?)
1	g.94008289_94008290delinsCA	CA645372217	ABCA4	c.5843_5844delinsTG (p.Pro1948Leu) n.259_260delinsTG c.2219_2220delinsTG (p.Pro740Leu)	ClinVar dbSNP
1	g.94008289_94008290delinsTG	CA1181403410	ABCA4	c.5843_5844delinsCA (p.Pro1948=) n.259_260delinsCA c.2219_2220delinsCA (p.Pro740=)
1	g.94008290G>A	CA285822	ABCA4	c.5843C>T (p.Pro1948Leu) n.259C>T c.2219C>T (p.Pro740Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008290G>C	CA341280004	ABCA4	c.5843C>G (p.Pro1948Arg) n.259C>G c.2219C>G (p.Pro740Arg)
1	g.94008290G=	CA1140634033	ABCA4	c.5843C= (p.Pro1948=) n.259C= c.2219C= (p.Pro740=)
1	g.94008290G>T	CA341280006	ABCA4	c.5843C>A (p.Pro1948Gln) n.259C>A c.2219C>A (p.Pro740Gln)
1	g.94008291G>A	CA341280008	ABCA4	c.5842C>T (p.Pro1948Ser) n.258C>T c.2218C>T (p.Pro740Ser)
1	g.94008291G>C	CA341280009	ABCA4	c.5842C>G (p.Pro1948Ala) n.258C>G c.2218C>G (p.Pro740Ala)
1	g.94008291G>T	CA341280010	ABCA4	c.5842C>A (p.Pro1948Thr) n.258C>A c.2218C>A (p.Pro740Thr)
1	g.94008292A>C	CA341280011	ABCA4	c.5841T>G (p.Tyr1947Ter) n.257T>G c.2217T>G (p.Tyr739Ter)
1	g.94008292A>G	CA418814052	ABCA4	c.5841T>C (p.Tyr1947=) n.257T>C c.2217T>C (p.Tyr739=)
1	g.94008292A>T	CA341280013	ABCA4	c.5841T>A (p.Tyr1947Ter) n.257T>A c.2217T>A (p.Tyr739Ter)
1	g.94008293T>A	CA341280015	ABCA4	c.5840A>T (p.Tyr1947Phe) n.256A>T c.2216A>T (p.Tyr739Phe)
1	g.94008293T>C	CA341280019	ABCA4	c.5840A>G (p.Tyr1947Cys) n.256A>G c.2216A>G (p.Tyr739Cys)
1	g.94008293T>G	CA341280017	ABCA4	c.5840A>C (p.Tyr1947Ser) n.256A>C c.2216A>C (p.Tyr739Ser)
1	g.94008294A>C	CA341280021	ABCA4	c.5839T>G (p.Tyr1947Asp) n.255T>G c.2215T>G (p.Tyr739Asp)
1	g.94008294A>G	CA341280023	ABCA4	c.5839T>C (p.Tyr1947His) n.255T>C c.2215T>C (p.Tyr739His)
1	g.94008294A>T	CA341280024	ABCA4	c.5839T>A (p.Tyr1947Asn) n.255T>A c.2215T>A (p.Tyr739Asn)
1	g.94008295A>C	CA341280026	ABCA4	c.5838T>G (p.Ile1946Met) n.254T>G c.2214T>G (p.Ile738Met)
1	g.94008295A>G	CA418814054	ABCA4	c.5838T>C (p.Ile1946=) n.254T>C c.2214T>C (p.Ile738=)
1	g.94008295A>T	CA418814055	ABCA4	c.5838T>A (p.Ile1946=) n.254T>A c.2214T>A (p.Ile738=)	gnomAD v4
1	g.94008296A=	CA1181403418	ABCA4	c.5837T= (p.Ile1946=) n.253T= c.2213T= (p.Ile738=)
1	g.94008296A>C	CA341280028	ABCA4	c.5837T>G (p.Ile1946Ser) n.253T>G c.2213T>G (p.Ile738Ser)
1	g.94008296A>G	CA957099	ABCA4	c.5837T>C (p.Ile1946Thr) n.253T>C c.2213T>C (p.Ile738Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008296A>T	CA341280031	ABCA4	c.5837T>A (p.Ile1946Asn) n.253T>A c.2213T>A (p.Ile738Asn)
1	g.94008297T>A	CA341280033	ABCA4	c.5836A>T (p.Ile1946Phe) n.252A>T c.2212A>T (p.Ile738Phe)
1	g.94008297T>C	CA341280034	ABCA4	c.5836A>G (p.Ile1946Val) n.252A>G c.2212A>G (p.Ile738Val)	dbSNP gnomAD v2 gnomAD v4
1	g.94008297T>G	CA341280036	ABCA4	c.5836A>C (p.Ile1946Leu) n.252A>C c.2212A>C (p.Ile738Leu)
1	g.94008297T=	CA1181403421	ABCA4	c.5836A= (p.Ile1946=) n.252A= c.2212A= (p.Ile738=)
1	g.94008298C>A	CA341280039	ABCA4	c.5836-1G>T (n.5836-1G>T) n.252-1G>T c.2212-1G>T (n.2212-1G>T)
1	g.94008298C>G	CA341280040	ABCA4	c.5836-1G>C (n.5836-1G>C) n.252-1G>C c.2212-1G>C (n.2212-1G>C)	gnomAD v4
1	g.94008298C>T	CA341280042	ABCA4	c.5836-1G>A (n.5836-1G>A) n.252-1G>A c.2212-1G>A (n.2212-1G>A)
1	g.94008298_94008299delinsCT	CA1181403425	ABCA4	c.5836-2_5836-1delinsAG (n.5836-2_5836-1delinsAG) n.252-2_252-1delinsAG c.2212-2_2212-1delinsAG (n.2212-2_2212-1delinsAG)
1	g.94008299del	CA227344	ABCA4	c.5836-2del (n.5836-2del) n.252-2del c.2212-2del (n.2212-2del)	ClinVar dbSNP gnomAD v2 gnomAD v4
1	g.94008299T>A	CA341280045	ABCA4	c.5836-2A>T (n.5836-2A>T) n.252-2A>T c.2212-2A>T (n.2212-2A>T)
1	g.94008299T>C	CA341280049	ABCA4	c.5836-2A>G (n.5836-2A>G) n.252-2A>G c.2212-2A>G (n.2212-2A>G)	ClinVar dbSNP gnomAD v4 COSMIC
1	g.94008299T>G	CA341280047	ABCA4	c.5836-2A>C (n.5836-2A>C) n.252-2A>C c.2212-2A>C (n.2212-2A>C)
1	g.94008299T=	CA1140726069	ABCA4	c.5836-2A= (n.5836-2A=) n.252-2A= c.2212-2A= (n.2212-2A=)
1	g.94008300G>A	CA524383212	ABCA4	c.5836-3C>T (n.5836-3C>T) n.252-3C>T c.2212-3C>T (n.2212-3C>T)	dbSNP gnomAD v2 gnomAD v4
1	g.94008300G=	CA1181403435	ABCA4	c.5836-3C= (n.5836-3C=) n.252-3C= c.2212-3C= (n.2212-3C=)
1	g.94008300G>T	CA16617201	ABCA4	c.5836-3C>A (n.5836-3C>A) n.252-3C>A c.2212-3C>A (n.2212-3C>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
1	g.94008304G>A	CA10604681	ABCA4	c.5836-7C>T (n.5836-7C>T) n.252-7C>T c.2212-7C>T (n.2212-7C>T)	ClinVar dbSNP
1	g.94008304G=	CA1181403436	ABCA4	c.5836-7C= (n.5836-7C=) n.252-7C= c.2212-7C= (n.2212-7C=)
1	g.94008306T>C	CA26837090	ABCA4	c.5836-9A>G (n.5836-9A>G) n.252-9A>G c.2212-9A>G (n.2212-9A>G)	dbSNP gnomAD v4
1	g.94008306T=	CA1181403437	ABCA4	c.5836-9A= (n.5836-9A=) n.252-9A= c.2212-9A= (n.2212-9A=)
1	g.94008307A=	CA1181403438	ABCA4	c.5836-10T= (n.5836-10T=) n.252-10T= c.2212-10T= (n.2212-10T=)
1	g.94008307A>G	CA524383213	ABCA4	c.5836-10T>C (n.5836-10T>C) n.252-10T>C c.2212-10T>C (n.2212-10T>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008308C>A	CA26837095	ABCA4	c.5836-11G>T (n.5836-11G>T) n.252-11G>T c.2212-11G>T (n.2212-11G>T)	dbSNP
1	g.94008308C=	CA1139894823	ABCA4	c.5836-11G= (n.5836-11G=) n.252-11G= c.2212-11G= (n.2212-11G=)
1	g.94008308C>G	CA26837098	ABCA4	c.5836-11G>C (n.5836-11G>C) n.252-11G>C c.2212-11G>C (n.2212-11G>C)	dbSNP
1	g.94008308C>T	CA179698	ABCA4	c.5836-11G>A (n.5836-11G>A) n.252-11G>A c.2212-11G>A (n.2212-11G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008309G>A	CA524383214	ABCA4	c.5836-12C>T (n.5836-12C>T) n.252-12C>T c.2212-12C>T (n.2212-12C>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
1	g.94008309G=	CA1181403449	ABCA4	c.5836-12C= (n.5836-12C=) n.252-12C= c.2212-12C= (n.2212-12C=)
1	g.94008309G>T	CA26837105	ABCA4	c.5836-12C>A (n.5836-12C>A) n.252-12C>A c.2212-12C>A (n.2212-12C>A)	dbSNP
1	g.94008309dup	CA2744614840	ABCA4	c.5836-12dup (n.5836-12dup) n.252-12dup c.2212-12dup (n.2212-12dup)
1	g.94008310A=	CA1181403451	ABCA4	c.5836-13T= (n.5836-13T=) n.252-13T= c.2212-13T= (n.2212-13T=)
1	g.94008310A>G	CA524383215	ABCA4	c.5836-13T>C (n.5836-13T>C) n.252-13T>C c.2212-13T>C (n.2212-13T>C)	ClinVar dbSNP gnomAD v2 gnomAD v4
1	g.94008311A>G	CA2646646395	ABCA4	c.5836-14T>C (n.5836-14T>C) n.252-14T>C c.2212-14T>C (n.2212-14T>C)	gnomAD v4
1	g.94008312G>A	CA2646646396	ABCA4	c.5836-15C>T (n.5836-15C>T) n.252-15C>T c.2212-15C>T (n.2212-15C>T)	ClinVar gnomAD v4
1	g.94008312G=	CA1181403452	ABCA4	c.5836-15C= (n.5836-15C=) n.252-15C= c.2212-15C= (n.2212-15C=)
1	g.94008313A>C	CA2646646397	ABCA4	c.5836-16T>G (n.5836-16T>G) n.252-16T>G c.2212-16T>G (n.2212-16T>G)	gnomAD v4
1	g.94008313A>G	CA2574438175	ABCA4	c.5836-16T>C (n.5836-16T>C) n.252-16T>C c.2212-16T>C (n.2212-16T>C)
1	g.94008313_94008315delinsAAA	CA1143538156	ABCA4	c.5836-18_5836-16delinsTTT (n.5836-18_5836-16delinsTTT) n.252-18_252-16delinsTTT c.2212-18_2212-16delinsTTT (n.2212-18_2212-16delinsTTT)
1	g.94008315dup	CA227343	ABCA4	c.5836-16dup (n.5836-16dup) n.252-16dup c.2212-16dup (n.2212-16dup)	ClinVar dbSNP
1	g.94008316C>T	CA2574438176	ABCA4	c.5836-19G>A (n.5836-19G>A) n.252-19G>A c.2212-19G>A (n.2212-19G>A)	gnomAD v4
1	g.94008317C=	CA1181403456	ABCA4	c.5836-20G= (n.5836-20G=) n.252-20G= c.2212-20G= (n.2212-20G=)
1	g.94008317C>G	CA2739272666	ABCA4	c.5836-20G>C (n.5836-20G>C) n.252-20G>C c.2212-20G>C (n.2212-20G>C)	ClinVar
1	g.94008317C>T	CA957100	ABCA4	c.5836-20G>A (n.5836-20G>A) n.252-20G>A c.2212-20G>A (n.2212-20G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008318G>A	CA957101	ABCA4	c.5836-21C>T (n.5836-21C>T) n.252-21C>T c.2212-21C>T (n.2212-21C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94008318G=	CA1143952096	ABCA4	c.5836-21C= (n.5836-21C=) n.252-21C= c.2212-21C= (n.2212-21C=)

Number of alleles fetched