Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
1	g.94060699_94062639del	CA2580101943	ABCA4	c.1876_1999del c.-65+536_-65+2476del (n.-65+536_-65+2476del)
1	g.94062605_94062643del	CA2580063558	ABCA4	c.1874_1912del (p.Gln625_Met637del) c.-65+534_-65+572del (n.-65+534_-65+572del)	ClinVar
1	g.94062615G>A	CA418822035	ABCA4	c.1899C>T (p.Tyr633=) c.-65+559C>T (n.-65+559C>T)
1	g.94062615G>C	CA341279293	ABCA4	c.1899C>G (p.Tyr633Ter) c.-65+559C>G (n.-65+559C>G)
1	g.94062615G>T	CA341279294	ABCA4	c.1899C>A (p.Tyr633Ter) c.-65+559C>A (n.-65+559C>A)
1	g.94062615_94062620del	CA2574438639	ABCA4	c.1894_1899del (p.Ile632_Tyr633del) c.-65+554_-65+559del (n.-65+554_-65+559del)
1	g.94062616T>A	CA341279295	ABCA4	c.1898A>T (p.Tyr633Phe) c.-65+558A>T (n.-65+558A>T)
1	g.94062616T>C	CA341279296	ABCA4	c.1898A>G (p.Tyr633Cys) c.-65+558A>G (n.-65+558A>G)
1	g.94062616T>G	CA341279297	ABCA4	c.1898A>C (p.Tyr633Ser) c.-65+558A>C (n.-65+558A>C)	dbSNP
1	g.94062616T=	CA1181418812	ABCA4	c.1898A= (p.Tyr633=) c.-65+558A= (n.-65+558A=)
1	g.94062617A>C	CA341279298	ABCA4	c.1897T>G (p.Tyr633Asp) c.-65+557T>G (n.-65+557T>G)
1	g.94062617A>G	CA341279299	ABCA4	c.1897T>C (p.Tyr633His) c.-65+557T>C (n.-65+557T>C)
1	g.94062617A>T	CA341279300	ABCA4	c.1897T>A (p.Tyr633Asn) c.-65+557T>A (n.-65+557T>A)	COSMIC COSMIC
1	g.94062618G>A	CA418822037	ABCA4	c.1896C>T (p.Ile632=) c.-65+556C>T (n.-65+556C>T)
1	g.94062618G>C	CA341279301	ABCA4	c.1896C>G (p.Ile632Met) c.-65+556C>G (n.-65+556C>G)
1	g.94062618G>T	CA418822038	ABCA4	c.1896C>A (p.Ile632=) c.-65+556C>A (n.-65+556C>A)
1	g.94062619A>C	CA341279302	ABCA4	c.1895T>G (p.Ile632Ser) c.-65+555T>G (n.-65+555T>G)
1	g.94062619A>G	CA341279304	ABCA4	c.1895T>C (p.Ile632Thr) c.-65+555T>C (n.-65+555T>C)
1	g.94062619A>T	CA341279303	ABCA4	c.1895T>A (p.Ile632Asn) c.-65+555T>A (n.-65+555T>A)
1	g.94062619_94062620delinsAT	CA1181418813	ABCA4	c.1894_1895delinsAT (p.Ile632=) c.-65+554_-65+555delinsAT (n.-65+554_-65+555delinsAT)
1	g.94062620T>A	CA341279305	ABCA4	c.1894A>T (p.Ile632Phe) c.-65+554A>T (n.-65+554A>T)	gnomAD v4
1	g.94062620T>C	CA341279306	ABCA4	c.1894A>G (p.Ile632Val) c.-65+554A>G (n.-65+554A>G)
1	g.94062620T>G	CA341279307	ABCA4	c.1894A>C (p.Ile632Leu) c.-65+554A>C (n.-65+554A>C)
1	g.94062620_94062621delinsTT	CA1140726066	ABCA4	c.1893_1894delinsAA (p.Gly631=) c.-65+553_-65+554delinsAA (n.-65+553_-65+554delinsAA)
1	g.94062621del	CA226947	ABCA4	c.1894del (p.Ile632SerfsTer17) c.-65+554del (n.-65+554del)	ClinVar dbSNP
1	g.94062621T>A	CA418822042	ABCA4	c.1893A>T (p.Gly631=) c.-65+553A>T (n.-65+553A>T)
1	g.94062621T>C	CA418822043	ABCA4	c.1893A>G (p.Gly631=) c.-65+553A>G (n.-65+553A>G)
1	g.94062621T>G	CA418822044	ABCA4	c.1893A>C (p.Gly631=) c.-65+553A>C (n.-65+553A>C)
1	g.94062622C>A	CA341279310	ABCA4	c.1892G>T (p.Gly631Val) c.-65+552G>T (n.-65+552G>T)	ClinVar dbSNP gnomAD v2
1	g.94062622C=	CA1181418814	ABCA4	c.1892G= (p.Gly631=) c.-65+552G= (n.-65+552G=)
1	g.94062622C>G	CA341279308	ABCA4	c.1892G>C (p.Gly631Ala) c.-65+552G>C (n.-65+552G>C)
1	g.94062622C>T	CA341279309	ABCA4	c.1892G>A (p.Gly631Glu) c.-65+552G>A (n.-65+552G>A)	ClinVar gnomAD v4
1	g.94062623C>A	CA341279311	ABCA4	c.1891G>T (p.Gly631Ter) c.-65+551G>T (n.-65+551G>T)
1	g.94062623C=	CA1181418815	ABCA4	c.1891G= (p.Gly631=) c.-65+551G= (n.-65+551G=)
1	g.94062623C>G	CA341279312	ABCA4	c.1891G>C (p.Gly631Arg) c.-65+551G>C (n.-65+551G>C)
1	g.94062623C>T	CA10602445	ABCA4	c.1891G>A (p.Gly631Arg) c.-65+551G>A (n.-65+551G>A)	ClinVar dbSNP
1	g.94062624A>C	CA418822046	ABCA4	c.1890T>G (p.Val630=) c.-65+550T>G (n.-65+550T>G)
1	g.94062624A>G	CA418822048	ABCA4	c.1890T>C (p.Val630=) c.-65+550T>C (n.-65+550T>C)
1	g.94062624A>T	CA418822050	ABCA4	c.1890T>A (p.Val630=) c.-65+550T>A (n.-65+550T>A)
1	g.94062625A>C	CA341279313	ABCA4	c.1889T>G (p.Val630Gly) c.-65+549T>G (n.-65+549T>G)
1	g.94062625A>G	CA341279314	ABCA4	c.1889T>C (p.Val630Ala) c.-65+549T>C (n.-65+549T>C)
1	g.94062625A>T	CA341279315	ABCA4	c.1889T>A (p.Val630Asp) c.-65+549T>A (n.-65+549T>A)	gnomAD v4
1	g.94062626del	CA2739272683	ABCA4	c.1888del (p.Val630LeufsTer19) c.-65+548del (n.-65+548del)	ClinVar
1	g.94062626C>A	CA341279316	ABCA4	c.1888G>T (p.Val630Phe) c.-65+548G>T (n.-65+548G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.94062626C=	CA1181418816	ABCA4	c.1888G= (p.Val630=) c.-65+548G= (n.-65+548G=)
1	g.94062626C>G	CA341279317	ABCA4	c.1888G>C (p.Val630Leu) c.-65+548G>C (n.-65+548G>C)
1	g.94062626C>T	CA341279318	ABCA4	c.1888G>A (p.Val630Ile) c.-65+548G>A (n.-65+548G>A)
1	g.94062627T>A	CA418822052	ABCA4	c.1887A>T (p.Pro629=) c.-65+547A>T (n.-65+547A>T)	gnomAD v4
1	g.94062627T>C	CA418822053	ABCA4	c.1887A>G (p.Pro629=) c.-65+547A>G (n.-65+547A>G)	gnomAD v4
1	g.94062627T>G	CA418822054	ABCA4	c.1887A>C (p.Pro629=) c.-65+547A>C (n.-65+547A>C)	dbSNP gnomAD v2 gnomAD v4
1	g.94062627T=	CA1181418817	ABCA4	c.1887A= (p.Pro629=) c.-65+547A= (n.-65+547A=)
1	g.94062628G>A	CA958403	ABCA4	c.1886C>T (p.Pro629Leu) c.-65+546C>T (n.-65+546C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94062628G>C	CA341279319	ABCA4	c.1886C>G (p.Pro629Arg) c.-65+546C>G (n.-65+546C>G)
1	g.94062628G=	CA1181418818	ABCA4	c.1886C= (p.Pro629=) c.-65+546C= (n.-65+546C=)
1	g.94062628G>T	CA341279320	ABCA4	c.1886C>A (p.Pro629Gln) c.-65+546C>A (n.-65+546C>A)
1	g.94062629G>A	CA341279321	ABCA4	c.1885C>T (p.Pro629Ser) c.-65+545C>T (n.-65+545C>T)
1	g.94062629G>C	CA341279323	ABCA4	c.1885C>G (p.Pro629Ala) c.-65+545C>G (n.-65+545C>G)	ClinVar dbSNP gnomAD v3 gnomAD v4
1	g.94062629G=	CA1181418819	ABCA4	c.1885C= (p.Pro629=) c.-65+545C= (n.-65+545C=)
1	g.94062629G>T	CA341279322	ABCA4	c.1885C>A (p.Pro629Thr) c.-65+545C>A (n.-65+545C>A)
1	g.94062630A>C	CA418822058	ABCA4	c.1884T>G (p.Ala628=) c.-65+544T>G (n.-65+544T>G)
1	g.94062630A>G	CA418822059	ABCA4	c.1884T>C (p.Ala628=) c.-65+544T>C (n.-65+544T>C)
1	g.94062630A>T	CA418822060	ABCA4	c.1884T>A (p.Ala628=) c.-65+544T>A (n.-65+544T>A)	COSMIC COSMIC
1	g.94062631G>A	CA26848044	ABCA4	c.1883C>T (p.Ala628Val) c.-65+543C>T (n.-65+543C>T)	dbSNP gnomAD v4
1	g.94062631G>C	CA341279324	ABCA4	c.1883C>G (p.Ala628Gly) c.-65+543C>G (n.-65+543C>G)
1	g.94062631G=	CA1181418820	ABCA4	c.1883C= (p.Ala628=) c.-65+543C= (n.-65+543C=)
1	g.94062631G>T	CA341279325	ABCA4	c.1883C>A (p.Ala628Asp) c.-65+543C>A (n.-65+543C>A)
1	g.94062632C>A	CA341279326	ABCA4	c.1882G>T (p.Ala628Ser) c.-65+542G>T (n.-65+542G>T)
1	g.94062632C=	CA1181418821	ABCA4	c.1882G= (p.Ala628=) c.-65+542G= (n.-65+542G=)
1	g.94062632C>G	CA341279327	ABCA4	c.1882G>C (p.Ala628Pro) c.-65+542G>C (n.-65+542G>C)	dbSNP gnomAD v2 gnomAD v4
1	g.94062632C>T	CA958404	ABCA4	c.1882G>A (p.Ala628Thr) c.-65+542G>A (n.-65+542G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94062633C>A	CA341279330	ABCA4	c.1881G>T (p.Glu627Asp) c.-65+541G>T (n.-65+541G>T)
1	g.94062633C=	CA1181418822	ABCA4	c.1881G= (p.Glu627=) c.-65+541G= (n.-65+541G=)
1	g.94062633C>G	CA341279332	ABCA4	c.1881G>C (p.Glu627Asp) c.-65+541G>C (n.-65+541G>C)
1	g.94062633C>T	CA418822062	ABCA4	c.1881G>A (p.Glu627=) c.-65+541G>A (n.-65+541G>A)	dbSNP gnomAD v4
1	g.94062634T>A	CA341279333	ABCA4	c.1880A>T (p.Glu627Val) c.-65+540A>T (n.-65+540A>T)
1	g.94062634T>C	CA341279335	ABCA4	c.1880A>G (p.Glu627Gly) c.-65+540A>G (n.-65+540A>G)
1	g.94062634T>G	CA341279337	ABCA4	c.1880A>C (p.Glu627Ala) c.-65+540A>C (n.-65+540A>C)
1	g.94062635C>A	CA341279343	ABCA4	c.1879G>T (p.Glu627Ter) c.-65+539G>T (n.-65+539G>T)
1	g.94062635C>G	CA341279341	ABCA4	c.1879G>C (p.Glu627Gln) c.-65+539G>C (n.-65+539G>C)
1	g.94062635C>T	CA341279339	ABCA4	c.1879G>A (p.Glu627Lys) c.-65+539G>A (n.-65+539G>A)
1	g.94062636C>A	CA418822069	ABCA4	c.1878G>T (p.Ala626=) c.-65+538G>T (n.-65+538G>T)
1	g.94062636C=	CA1140726070	ABCA4	c.1878G= (p.Ala626=) c.-65+538G= (n.-65+538G=)
1	g.94062636C>G	CA418822067	ABCA4	c.1878G>C (p.Ala626=) c.-65+538G>C (n.-65+538G>C)	dbSNP
1	g.94062636C>T	CA226945	ABCA4	c.1878G>A (p.Ala626=) c.-65+538G>A (n.-65+538G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94062637G>A	CA958405	ABCA4	c.1877C>T (p.Ala626Val) c.-65+537C>T (n.-65+537C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1	g.94062637G>C	CA341279347	ABCA4	c.1877C>G (p.Ala626Gly) c.-65+537C>G (n.-65+537C>G)
1	g.94062637G=	CA1181418823	ABCA4	c.1877C= (p.Ala626=) c.-65+537C= (n.-65+537C=)
1	g.94062637G>T	CA341279349	ABCA4	c.1877C>A (p.Ala626Glu) c.-65+537C>A (n.-65+537C>A)	gnomAD v4 COSMIC COSMIC
1	g.94062638C>A	CA341279351	ABCA4	c.1876G>T (p.Ala626Ser) c.-65+536G>T (n.-65+536G>T)
1	g.94062638C=	CA1181418824	ABCA4	c.1876G= (p.Ala626=) c.-65+536G= (n.-65+536G=)
1	g.94062638C>G	CA341279353	ABCA4	c.1876G>C (p.Ala626Pro) c.-65+536G>C (n.-65+536G>C)	dbSNP gnomAD v2 gnomAD v4
1	g.94062638C>T	CA341279355	ABCA4	c.1876G>A (p.Ala626Thr) c.-65+536G>A (n.-65+536G>A)	gnomAD v4
1	g.94062639C>A	CA341279357	ABCA4	c.1875G>T (p.Gln625His) c.-65+535G>T (n.-65+535G>T)
1	g.94062639C>G	CA341279359	ABCA4	c.1875G>C (p.Gln625His) c.-65+535G>C (n.-65+535G>C)
1	g.94062639C>T	CA418822072	ABCA4	c.1875G>A (p.Gln625=) c.-65+535G>A (n.-65+535G>A)
1	g.94062640T>A	CA341279362	ABCA4	c.1874A>T (p.Gln625Leu) c.-65+534A>T (n.-65+534A>T)
1	g.94062640T>C	CA341279363	ABCA4	c.1874A>G (p.Gln625Arg) c.-65+534A>G (n.-65+534A>G)
1	g.94062640T>G	CA341279364	ABCA4	c.1874A>C (p.Gln625Pro) c.-65+534A>C (n.-65+534A>C)
1	g.94062641G>A	CA10581652	ABCA4	c.1873C>T (p.Gln625Ter) c.-65+533C>T (n.-65+533C>T)	ClinVar dbSNP gnomAD v4
1	g.94062641G>C	CA341279369	ABCA4	c.1873C>G (p.Gln625Glu) c.-65+533C>G (n.-65+533C>G)	dbSNP gnomAD v2 gnomAD v4
1	g.94062641G=	CA1181418825	ABCA4	c.1873C= (p.Gln625=) c.-65+533C= (n.-65+533C=)
1	g.94062641G>T	CA341279367	ABCA4	c.1873C>A (p.Gln625Lys) c.-65+533C>A (n.-65+533C>A)	gnomAD v4
1	g.94062642C>A	CA418822077	ABCA4	c.1872G>T (p.Val624=) c.-65+532G>T (n.-65+532G>T)
1	g.94062642C=	CA1181418826	ABCA4	c.1872G= (p.Val624=) c.-65+532G= (n.-65+532G=)
1	g.94062642C>G	CA418822080	ABCA4	c.1872G>C (p.Val624=) c.-65+532G>C (n.-65+532G>C)
1	g.94062642C>T	CA418822079	ABCA4	c.1872G>A (p.Val624=) c.-65+532G>A (n.-65+532G>A)	dbSNP gnomAD v2 gnomAD v4
1	g.94062643A=	CA1181418827	ABCA4	c.1871T= (p.Val624=) c.-65+531T= (n.-65+531T=)
1	g.94062643A>C	CA341279372	ABCA4	c.1871T>G (p.Val624Gly) c.-65+531T>G (n.-65+531T>G)	dbSNP
1	g.94062643A>G	CA341279374	ABCA4	c.1871T>C (p.Val624Ala) c.-65+531T>C (n.-65+531T>C)
1	g.94062643A>T	CA341279373	ABCA4	c.1871T>A (p.Val624Glu) c.-65+531T>A (n.-65+531T>A)
1	g.94062644C>A	CA341279377	ABCA4	c.1870G>T (p.Val624Leu) c.-65+530G>T (n.-65+530G>T)
1	g.94062644C>G	CA341279379	ABCA4	c.1870G>C (p.Val624Leu) c.-65+530G>C (n.-65+530G>C)
1	g.94062644C>T	CA341279381	ABCA4	c.1870G>A (p.Val624Met) c.-65+530G>A (n.-65+530G>A)
1	g.94062645C>A	CA341279383	ABCA4	c.1869G>T (p.Gln623His) c.-65+529G>T (n.-65+529G>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.94062645C=	CA1181418828	ABCA4	c.1869G= (p.Gln623=) c.-65+529G= (n.-65+529G=)
1	g.94062645C>G	CA341279385	ABCA4	c.1869G>C (p.Gln623His) c.-65+529G>C (n.-65+529G>C)
1	g.94062645C>T	CA418822084	ABCA4	c.1869G>A (p.Gln623=) c.-65+529G>A (n.-65+529G>A)
1	g.94062646T>A	CA341279387	ABCA4	c.1868A>T (p.Gln623Leu) c.-65+528A>T (n.-65+528A>T)
1	g.94062646T>C	CA341279389	ABCA4	c.1868A>G (p.Gln623Arg) c.-65+528A>G (n.-65+528A>G)	ClinVar dbSNP gnomAD v4
1	g.94062646T>G	CA341279391	ABCA4	c.1868A>C (p.Gln623Pro) c.-65+528A>C (n.-65+528A>C)
1	g.94062646T=	CA1181418829	ABCA4	c.1868A= (p.Gln623=) c.-65+528A= (n.-65+528A=)
1	g.94062647G>A	CA341279393	ABCA4	c.1867C>T (p.Gln623Ter) c.-65+527C>T (n.-65+527C>T)
1	g.94062647G>C	CA341279395	ABCA4	c.1867C>G (p.Gln623Glu) c.-65+527C>G (n.-65+527C>G)	dbSNP gnomAD v4
1	g.94062647G=	CA1181418830	ABCA4	c.1867C= (p.Gln623=) c.-65+527C= (n.-65+527C=)
1	g.94062647G>T	CA341279396	ABCA4	c.1867C>A (p.Gln623Lys) c.-65+527C>A (n.-65+527C>A)
1	g.94062648G>A	CA418822092	ABCA4	c.1866C>T (p.Ser622=) c.-65+526C>T (n.-65+526C>T)
1	g.94062648G>C	CA341279397	ABCA4	c.1866C>G (p.Ser622Arg) c.-65+526C>G (n.-65+526C>G)
1	g.94062648G>T	CA341279398	ABCA4	c.1866C>A (p.Ser622Arg) c.-65+526C>A (n.-65+526C>A)
1	g.94062649del	CA645372171	ABCA4	c.1865del (p.Ser622ThrfsTer27) c.-65+525del (n.-65+525del)
1	g.94062649C>A	CA341279401	ABCA4	c.1865G>T (p.Ser622Ile) c.-65+525G>T (n.-65+525G>T)	ClinVar dbSNP
1	g.94062649C=	CA1181418831	ABCA4	c.1865G= (p.Ser622=) c.-65+525G= (n.-65+525G=)
1	g.94062649C>G	CA341279405	ABCA4	c.1865G>C (p.Ser622Thr) c.-65+525G>C (n.-65+525G>C)	dbSNP
1	g.94062649C>T	CA341279403	ABCA4	c.1865G>A (p.Ser622Asn) c.-65+525G>A (n.-65+525G>A)	gnomAD v4
1	g.94062650T>A	CA341279407	ABCA4	c.1864A>T (p.Ser622Cys) c.-65+524A>T (n.-65+524A>T)
1	g.94062650T>C	CA341279409	ABCA4	c.1864A>G (p.Ser622Gly) c.-65+524A>G (n.-65+524A>G)	gnomAD v4
1	g.94062650T>G	CA341279411	ABCA4	c.1864A>C (p.Ser622Arg) c.-65+524A>C (n.-65+524A>C)
1	g.94062651C>A	CA341279413	ABCA4	c.1863G>T (p.Arg621Ser) c.-65+523G>T (n.-65+523G>T)
1	g.94062651C=	CA1181418832	ABCA4	c.1863G= (p.Arg621=) c.-65+523G= (n.-65+523G=)
1	g.94062651C>G	CA341279415	ABCA4	c.1863G>C (p.Arg621Ser) c.-65+523G>C (n.-65+523G>C)
1	g.94062651C>T	CA418822094	ABCA4	c.1863G>A (p.Arg621=) c.-65+523G>A (n.-65+523G>A)	dbSNP gnomAD v4
1	g.94062652C>A	CA341279417	ABCA4	c.1862G>T (p.Arg621Met) c.-65+522G>T (n.-65+522G>T)	COSMIC COSMIC
1	g.94062652C=	CA1181418833	ABCA4	c.1862G= (p.Arg621=) c.-65+522G= (n.-65+522G=)
1	g.94062652C>G	CA341279419	ABCA4	c.1862G>C (p.Arg621Thr) c.-65+522G>C (n.-65+522G>C)	ClinVar
1	g.94062652C>T	CA958406	ABCA4	c.1862G>A (p.Arg621Lys) c.-65+522G>A (n.-65+522G>A)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.94062653T>A	CA341279422	ABCA4	c.1861A>T (p.Arg621Trp) c.-65+521A>T (n.-65+521A>T)
1	g.94062653T>C	CA958407	ABCA4	c.1861A>G (p.Arg621Gly) c.-65+521A>G (n.-65+521A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94062653T>G	CA418822096	ABCA4	c.1861A>C (p.Arg621=) c.-65+521A>C (n.-65+521A>C)
1	g.94062653T=	CA1141785386	ABCA4	c.1861A= (p.Arg621=) c.-65+521A= (n.-65+521A=)
1	g.94062653_94062663delinsTTGTGATCCCC	CA1181418834	ABCA4	c.1851_1861delinsGGGGATCACAA (p.Gln617=) c.-65+511_-65+521delinsGGGGATCACAA (n.-65+511_-65+521delinsGGGGATCACAA)
1	g.94062654T>A	CA418822098	ABCA4	c.1860A>T (p.Thr620=) c.-65+520A>T (n.-65+520A>T)
1	g.94062654T>C	CA418822099	ABCA4	c.1860A>G (p.Thr620=) c.-65+520A>G (n.-65+520A>G)
1	g.94062654T>G	CA418822100	ABCA4	c.1860A>C (p.Thr620=) c.-65+520A>C (n.-65+520A>C)
1	g.94062657_94062666del	CA916082070	ABCA4	c.1851_1860del (p.Ile619AlafsTer27) c.-65+511_-65+520del (n.-65+511_-65+520del)	ClinVar dbSNP
1	g.94062655G>A	CA958408	ABCA4	c.1859C>T (p.Thr620Ile) c.-65+519C>T (n.-65+519C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.94062655G>C	CA341279427	ABCA4	c.1859C>G (p.Thr620Arg) c.-65+519C>G (n.-65+519C>G)
1	g.94062655G=	CA1181418835	ABCA4	c.1859C= (p.Thr620=) c.-65+519C= (n.-65+519C=)
1	g.94062655G>T	CA341279425	ABCA4	c.1859C>A (p.Thr620Lys) c.-65+519C>A (n.-65+519C>A)
1	g.94062656T>A	CA341279430	ABCA4	c.1858A>T (p.Thr620Ser) c.-65+518A>T (n.-65+518A>T)
1	g.94062656T>C	CA341279432	ABCA4	c.1858A>G (p.Thr620Ala) c.-65+518A>G (n.-65+518A>G)
1	g.94062656T>G	CA341279434	ABCA4	c.1858A>C (p.Thr620Pro) c.-65+518A>C (n.-65+518A>C)
1	g.94062657G>A	CA418822104	ABCA4	c.1857C>T (p.Ile619=) c.-65+517C>T (n.-65+517C>T)	gnomAD v4
1	g.94062657G>C	CA341279436	ABCA4	c.1857C>G (p.Ile619Met) c.-65+517C>G (n.-65+517C>G)
1	g.94062657G>T	CA418822106	ABCA4	c.1857C>A (p.Ile619=) c.-65+517C>A (n.-65+517C>A)
1	g.94062658A>C	CA341279438	ABCA4	c.1856T>G (p.Ile619Ser) c.-65+516T>G (n.-65+516T>G)
1	g.94062658A>G	CA341279440	ABCA4	c.1856T>C (p.Ile619Thr) c.-65+516T>C (n.-65+516T>C)
1	g.94062658A>T	CA341279442	ABCA4	c.1856T>A (p.Ile619Asn) c.-65+516T>A (n.-65+516T>A)	gnomAD v4
1	g.94062659T>A	CA341279443	ABCA4	c.1855A>T (p.Ile619Phe) c.-65+515A>T (n.-65+515A>T)	ClinVar dbSNP gnomAD v2 gnomAD v4
1	g.94062659T>C	CA341279445	ABCA4	c.1855A>G (p.Ile619Val) c.-65+515A>G (n.-65+515A>G)	dbSNP gnomAD v2 gnomAD v4
1	g.94062659T>G	CA341279447	ABCA4	c.1855A>C (p.Ile619Leu) c.-65+515A>C (n.-65+515A>C)
1	g.94062659T=	CA1181418836	ABCA4	c.1855A= (p.Ile619=) c.-65+515A= (n.-65+515A=)
1	g.94062660C>A	CA418822109	ABCA4	c.1854G>T (p.Gly618=) c.-65+514G>T (n.-65+514G>T)	dbSNP gnomAD v3 gnomAD v4
1	g.94062660C=	CA1181418837	ABCA4	c.1854G= (p.Gly618=) c.-65+514G= (n.-65+514G=)
1	g.94062660C>G	CA418822110	ABCA4	c.1854G>C (p.Gly618=) c.-65+514G>C (n.-65+514G>C)
1	g.94062660C>T	CA418822111	ABCA4	c.1854G>A (p.Gly618=) c.-65+514G>A (n.-65+514G>A)	ClinVar gnomAD v4
1	g.94062661C>A	CA341279449	ABCA4	c.1853G>T (p.Gly618Val) c.-65+513G>T (n.-65+513G>T)
1	g.94062661C=	CA1140726074	ABCA4	c.1853G= (p.Gly618=) c.-65+513G= (n.-65+513G=)
1	g.94062661C>G	CA341279451	ABCA4	c.1853G>C (p.Gly618Ala) c.-65+513G>C (n.-65+513G>C)	dbSNP gnomAD v4
1	g.94062661C>T	CA226943	ABCA4	c.1853G>A (p.Gly618Glu) c.-65+513G>A (n.-65+513G>A)	ClinVar dbSNP
1	g.94062662C>A	CA341279456	ABCA4	c.1852G>T (p.Gly618Trp) c.-65+512G>T (n.-65+512G>T)
1	g.94062662C=	CA1181418838	ABCA4	c.1852G= (p.Gly618=) c.-65+512G= (n.-65+512G=)
1	g.94062662C>G	CA341279452	ABCA4	c.1852G>C (p.Gly618Arg) c.-65+512G>C (n.-65+512G>C)
1	g.94062662C>T	CA341279454	ABCA4	c.1852G>A (p.Gly618Arg) c.-65+512G>A (n.-65+512G>A)	ClinVar dbSNP gnomAD v4
1	g.94062663C>A	CA341279457	ABCA4	c.1851G>T (p.Gln617His) c.-65+511G>T (n.-65+511G>T)
1	g.94062663C=	CA1148243415	ABCA4	c.1851G= (p.Gln617=) c.-65+511G= (n.-65+511G=)
1	g.94062663C>G	CA958409	ABCA4	c.1851G>C (p.Gln617His) c.-65+511G>C (n.-65+511G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.94062663C>T	CA418822112	ABCA4	c.1851G>A (p.Gln617=) c.-65+511G>A (n.-65+511G>A)	gnomAD v2 gnomAD v4
1	g.94062664T>A	CA341279460	ABCA4	c.1850A>T (p.Gln617Leu) c.-65+510A>T (n.-65+510A>T)
1	g.94062664T>C	CA958410	ABCA4	c.1850A>G (p.Gln617Arg) c.-65+510A>G (n.-65+510A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94062664T>G	CA341279463	ABCA4	c.1850A>C (p.Gln617Pro) c.-65+510A>C (n.-65+510A>C)	ClinVar
1	g.94062664T=	CA1181418839	ABCA4	c.1850A= (p.Gln617=) c.-65+510A= (n.-65+510A=)
1	g.94062665G>A	CA341279465	ABCA4	c.1849C>T (p.Gln617Ter) c.-65+509C>T (n.-65+509C>T)
1	g.94062665G>C	CA341279467	ABCA4	c.1849C>G (p.Gln617Glu) c.-65+509C>G (n.-65+509C>G)	dbSNP gnomAD v4
1	g.94062665G=	CA1181418841	ABCA4	c.1849C= (p.Gln617=) c.-65+509C= (n.-65+509C=)
1	g.94062665G>T	CA341279468	ABCA4	c.1849C>A (p.Gln617Lys) c.-65+509C>A (n.-65+509C>A)
1	g.94062665_94062666delinsGT	CA1181418840	ABCA4	c.1848_1849delinsAC (p.Glu616=) c.-65+508_-65+509delinsAC (n.-65+508_-65+509delinsAC)
1	g.94062666T>A	CA341279470	ABCA4	c.1848A>T (p.Glu616Asp) c.-65+508A>T (n.-65+508A>T)
1	g.94062666T>C	CA418822116	ABCA4	c.1848A>G (p.Glu616=) c.-65+508A>G (n.-65+508A>G)
1	g.94062666T>G	CA341279472	ABCA4	c.1848A>C (p.Glu616Asp) c.-65+508A>C (n.-65+508A>C)
1	g.94062666_94062667delinsTT	CA1140726077	ABCA4	c.1847_1848delinsAA (p.Glu616=) c.-65+507_-65+508delinsAA (n.-65+507_-65+508delinsAA)
1	g.94062667del	CA226942	ABCA4	c.1848del (p.Glu616AspfsTer?) c.-65+508del (n.-65+508del)	ClinVar dbSNP
1	g.94062667T>A	CA341279480	ABCA4	c.1847A>T (p.Glu616Val) c.-65+507A>T (n.-65+507A>T)
1	g.94062667T>C	CA341279478	ABCA4	c.1847A>G (p.Glu616Gly) c.-65+507A>G (n.-65+507A>G)
1	g.94062667T>G	CA341279477	ABCA4	c.1847A>C (p.Glu616Ala) c.-65+507A>C (n.-65+507A>C)
1	g.94062668C>A	CA341279482	ABCA4	c.1846G>T (p.Glu616Ter) c.-65+506G>T (n.-65+506G>T)
1	g.94062668C=	CA1181418842	ABCA4	c.1846G= (p.Glu616=) c.-65+506G= (n.-65+506G=)
1	g.94062668C>G	CA341279486	ABCA4	c.1846G>C (p.Glu616Gln) c.-65+506G>C (n.-65+506G>C)
1	g.94062668C>T	CA341279484	ABCA4	c.1846G>A (p.Glu616Lys) c.-65+506G>A (n.-65+506G>A)	ClinVar dbSNP gnomAD v4
1	g.94062669A>C	CA418822120	ABCA4	c.1845T>G (p.Val615=) c.-65+505T>G (n.-65+505T>G)
1	g.94062669A>G	CA418822123	ABCA4	c.1845T>C (p.Val615=) c.-65+505T>C (n.-65+505T>C)
1	g.94062669A>T	CA418822121	ABCA4	c.1845T>A (p.Val615=) c.-65+505T>A (n.-65+505T>A)
1	g.94062670A>C	CA341279489	ABCA4	c.1844T>G (p.Val615Gly) c.-65+504T>G (n.-65+504T>G)
1	g.94062670A>G	CA341279492	ABCA4	c.1844T>C (p.Val615Ala) c.-65+504T>C (n.-65+504T>C)	ClinVar dbSNP
1	g.94062670A>T	CA341279490	ABCA4	c.1844T>A (p.Val615Asp) c.-65+504T>A (n.-65+504T>A)
1	g.94062671C>A	CA958411	ABCA4	c.1843G>T (p.Val615Phe) c.-65+503G>T (n.-65+503G>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94062671C=	CA1144027188	ABCA4	c.1843G= (p.Val615=) c.-65+503G= (n.-65+503G=)
1	g.94062671C>G	CA26848136	ABCA4	c.1843G>C (p.Val615Leu) c.-65+503G>C (n.-65+503G>C)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1	g.94062671C>T	CA341279496	ABCA4	c.1843G>A (p.Val615Ile) c.-65+503G>A (n.-65+503G>A)	dbSNP gnomAD v2
1	g.94062672C>A	CA341279498	ABCA4	c.1842G>T (p.Met614Ile) c.-65+502G>T (n.-65+502G>T)
1	g.94062672C>G	CA341279500	ABCA4	c.1842G>C (p.Met614Ile) c.-65+502G>C (n.-65+502G>C)
1	g.94062672C>T	CA341279502	ABCA4	c.1842G>A (p.Met614Ile) c.-65+502G>A (n.-65+502G>A)
1	g.94062673A>C	CA341279503	ABCA4	c.1841T>G (p.Met614Arg) c.-65+501T>G (n.-65+501T>G)
1	g.94062673A>G	CA341279505	ABCA4	c.1841T>C (p.Met614Thr) c.-65+501T>C (n.-65+501T>C)
1	g.94062673A>T	CA341279507	ABCA4	c.1841T>A (p.Met614Lys) c.-65+501T>A (n.-65+501T>A)
1	g.94062674T>A	CA341279509	ABCA4	c.1840A>T (p.Met614Leu) c.-65+500A>T (n.-65+500A>T)	gnomAD v4
1	g.94062674T>C	CA958413	ABCA4	c.1840A>G (p.Met614Val) c.-65+500A>G (n.-65+500A>G)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1	g.94062674T>G	CA958412	ABCA4	c.1840A>C (p.Met614Leu) c.-65+500A>C (n.-65+500A>C)	dbSNP ExAC gnomAD v2 gnomAD v4
1	g.94062674T=	CA1149061697	ABCA4	c.1840A= (p.Met614=) c.-65+500A= (n.-65+500A=)
1	g.94062675G>A	CA418822130	ABCA4	c.1839C>T (p.Asp613=) c.-65+499C>T (n.-65+499C>T)
1	g.94062675G>C	CA341279515	ABCA4	c.1839C>G (p.Asp613Glu) c.-65+499C>G (n.-65+499C>G)
1	g.94062675G>T	CA341279513	ABCA4	c.1839C>A (p.Asp613Glu) c.-65+499C>A (n.-65+499C>A)
1	g.94062676T>A	CA341279518	ABCA4	c.1838A>T (p.Asp613Val) c.-65+498A>T (n.-65+498A>T)	ClinVar dbSNP
1	g.94062676T>C	CA341279519	ABCA4	c.1838A>G (p.Asp613Gly) c.-65+498A>G (n.-65+498A>G)	gnomAD v4
1	g.94062676T>G	CA341279521	ABCA4	c.1838A>C (p.Asp613Ala) c.-65+498A>C (n.-65+498A>C)
1	g.94062677C>A	CA341279523	ABCA4	c.1837G>T (p.Asp613Tyr) c.-65+497G>T (n.-65+497G>T)
1	g.94062677C=	CA1181418843	ABCA4	c.1837G= (p.Asp613=) c.-65+497G= (n.-65+497G=)
1	g.94062677C>G	CA341279524	ABCA4	c.1837G>C (p.Asp613His) c.-65+497G>C (n.-65+497G>C)
1	g.94062677C>T	CA341279525	ABCA4	c.1837G>A (p.Asp613Asn) c.-65+497G>A (n.-65+497G>A)	dbSNP gnomAD v2 gnomAD v4
1	g.94062678C>A	CA341279528	ABCA4	c.1836G>T (p.Gln612His) c.-65+496G>T (n.-65+496G>T)
1	g.94062678C>G	CA341279529	ABCA4	c.1836G>C (p.Gln612His) c.-65+496G>C (n.-65+496G>C)
1	g.94062678C>T	CA418822136	ABCA4	c.1836G>A (p.Gln612=) c.-65+496G>A (n.-65+496G>A)
1	g.94062679del	CA2586966940	ABCA4	c.1835del (p.Gln612ArgfsTer?) c.-65+495del (n.-65+495del)
1	g.94062679T>A	CA341279531	ABCA4	c.1835A>T (p.Gln612Leu) c.-65+495A>T (n.-65+495A>T)
1	g.94062679T>C	CA341279533	ABCA4	c.1835A>G (p.Gln612Arg) c.-65+495A>G (n.-65+495A>G)
1	g.94062679T>G	CA341279535	ABCA4	c.1835A>C (p.Gln612Pro) c.-65+495A>C (n.-65+495A>C)
1	g.94062680G>A	CA16042375	ABCA4	c.1834C>T (p.Gln612Ter) c.-65+494C>T (n.-65+494C>T)	ClinVar dbSNP gnomAD v4
1	g.94062680G>C	CA341279538	ABCA4	c.1834C>G (p.Gln612Glu) c.-65+494C>G (n.-65+494C>G)
1	g.94062680G=	CA1181418844	ABCA4	c.1834C= (p.Gln612=) c.-65+494C= (n.-65+494C=)
1	g.94062680G>T	CA341279536	ABCA4	c.1834C>A (p.Gln612Lys) c.-65+494C>A (n.-65+494C>A)
1	g.94062681C>A	CA958414	ABCA4	c.1833G>T (p.Leu611=) c.-65+493G>T (n.-65+493G>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94062681C=	CA1181418845	ABCA4	c.1833G= (p.Leu611=) c.-65+493G= (n.-65+493G=)
1	g.94062681C>G	CA418822138	ABCA4	c.1833G>C (p.Leu611=) c.-65+493G>C (n.-65+493G>C)
1	g.94062681C>T	CA418822140	ABCA4	c.1833G>A (p.Leu611=) c.-65+493G>A (n.-65+493G>A)	dbSNP gnomAD v2
1	g.94062683_94062721del	CA2573051633	ABCA4	c.1795_1833del (p.Glu599_Leu611del) c.-65+455_-65+493del (n.-65+455_-65+493del)	ClinVar dbSNP
1	g.94062682A=	CA1181418846	ABCA4	c.1832T= (p.Leu611=) c.-65+492T= (n.-65+492T=)
1	g.94062682A>C	CA341279541	ABCA4	c.1832T>G (p.Leu611Arg) c.-65+492T>G (n.-65+492T>G)
1	g.94062682A>G	CA958415	ABCA4	c.1832T>C (p.Leu611Pro) c.-65+492T>C (n.-65+492T>C)	ClinVar dbSNP ExAC gnomAD v2
1	g.94062682A>T	CA341279544	ABCA4	c.1832T>A (p.Leu611Gln) c.-65+492T>A (n.-65+492T>A)
1	g.94062683G>A	CA418822141	ABCA4	c.1831C>T (p.Leu611=) c.-65+491C>T (n.-65+491C>T)
1	g.94062683G>C	CA341279546	ABCA4	c.1831C>G (p.Leu611Val) c.-65+491C>G (n.-65+491C>G)
1	g.94062683G>T	CA341279547	ABCA4	c.1831C>A (p.Leu611Met) c.-65+491C>A (n.-65+491C>A)
1	g.94062684A=	CA1181418847	ABCA4	c.1830T= (p.Tyr610=) c.-65+490T= (n.-65+490T=)
1	g.94062684A>C	CA341279549	ABCA4	c.1830T>G (p.Tyr610Ter) c.-65+490T>G (n.-65+490T>G)
1	g.94062684A>G	CA418822142	ABCA4	c.1830T>C (p.Tyr610=) c.-65+490T>C (n.-65+490T>C)
1	g.94062684A>T	CA958416	ABCA4	c.1830T>A (p.Tyr610Ter) c.-65+490T>A (n.-65+490T>A)	dbSNP ExAC gnomAD v2
1	g.94062685T>A	CA341279551	ABCA4	c.1829A>T (p.Tyr610Phe) c.-65+489A>T (n.-65+489A>T)
1	g.94062685T>C	CA341279553	ABCA4	c.1829A>G (p.Tyr610Cys) c.-65+489A>G (n.-65+489A>G)
1	g.94062685T>G	CA341279555	ABCA4	c.1829A>C (p.Tyr610Ser) c.-65+489A>C (n.-65+489A>C)
1	g.94062686A>C	CA341279557	ABCA4	c.1828T>G (p.Tyr610Asp) c.-65+488T>G (n.-65+488T>G)
1	g.94062686A>G	CA341279559	ABCA4	c.1828T>C (p.Tyr610His) c.-65+488T>C (n.-65+488T>C)
1	g.94062686A>T	CA341279561	ABCA4	c.1828T>A (p.Tyr610Asn) c.-65+488T>A (n.-65+488T>A)
1	g.94062687G>A	CA418822144	ABCA4	c.1827C>T (p.Ala609=) c.-65+487C>T (n.-65+487C>T)
1	g.94062687G>C	CA418822146	ABCA4	c.1827C>G (p.Ala609=) c.-65+487C>G (n.-65+487C>G)
1	g.94062687G>T	CA418822147	ABCA4	c.1827C>A (p.Ala609=) c.-65+487C>A (n.-65+487C>A)
1	g.94062688G>A	CA341279564	ABCA4	c.1826C>T (p.Ala609Val) c.-65+486C>T (n.-65+486C>T)
1	g.94062688G>C	CA341279567	ABCA4	c.1826C>G (p.Ala609Gly) c.-65+486C>G (n.-65+486C>G)
1	g.94062688G>T	CA341279565	ABCA4	c.1826C>A (p.Ala609Asp) c.-65+486C>A (n.-65+486C>A)
1	g.94062689C>A	CA341279568	ABCA4	c.1825G>T (p.Ala609Ser) c.-65+485G>T (n.-65+485G>T)	gnomAD v4
1	g.94062689C>G	CA341279570	ABCA4	c.1825G>C (p.Ala609Pro) c.-65+485G>C (n.-65+485G>C)	ClinVar dbSNP
1	g.94062689C>T	CA341279572	ABCA4	c.1825G>A (p.Ala609Thr) c.-65+485G>A (n.-65+485G>A)	gnomAD v4
1	g.94062690A>C	CA341279574	ABCA4	c.1824T>G (p.Phe608Leu) c.-65+484T>G (n.-65+484T>G)
1	g.94062690A>G	CA418822151	ABCA4	c.1824T>C (p.Phe608=) c.-65+484T>C (n.-65+484T>C)	COSMIC COSMIC
1	g.94062690A>T	CA341279576	ABCA4	c.1824T>A (p.Phe608Leu) c.-65+484T>A (n.-65+484T>A)
1	g.94062691A=	CA1140726079	ABCA4	c.1823T= (p.Phe608=) c.-65+483T= (n.-65+483T=)
1	g.94062691A>C	CA341279578	ABCA4	c.1823T>G (p.Phe608Cys) c.-65+483T>G (n.-65+483T>G)
1	g.94062691A>G	CA341279580	ABCA4	c.1823T>C (p.Phe608Ser) c.-65+483T>C (n.-65+483T>C)
1	g.94062691A>T	CA226940	ABCA4	c.1823T>A (p.Phe608Tyr) c.-65+483T>A (n.-65+483T>A)	ClinVar dbSNP
1	g.94062692A=	CA1140726083	ABCA4	c.1822T= (p.Phe608=) c.-65+482T= (n.-65+482T=)
1	g.94062692A>C	CA341279583	ABCA4	c.1822T>G (p.Phe608Val) c.-65+482T>G (n.-65+482T>G)	dbSNP
1	g.94062692A>G	CA226938	ABCA4	c.1822T>C (p.Phe608Leu) c.-65+482T>C (n.-65+482T>C)	ClinVar dbSNP
1	g.94062692A>T	CA958417	ABCA4	c.1822T>A (p.Phe608Ile) c.-65+482T>A (n.-65+482T>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94062693C>A	CA418822154	ABCA4	c.1821G>T (p.Gly607=) c.-65+481G>T (n.-65+481G>T)
1	g.94062693C=	CA1143457611	ABCA4	c.1821G= (p.Gly607=) c.-65+481G= (n.-65+481G=)
1	g.94062693C>G	CA418822155	ABCA4	c.1821G>C (p.Gly607=) c.-65+481G>C (n.-65+481G>C)
1	g.94062693C>T	CA26848205	ABCA4	c.1821G>A (p.Gly607=) c.-65+481G>A (n.-65+481G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
1	g.94062694C>A	CA341279592	ABCA4	c.1820G>T (p.Gly607Val) c.-65+480G>T (n.-65+480G>T)	ClinVar gnomAD v4
1	g.94062694C>G	CA341279589	ABCA4	c.1820G>C (p.Gly607Ala) c.-65+480G>C (n.-65+480G>C)
1	g.94062694C>T	CA341279591	ABCA4	c.1820G>A (p.Gly607Glu) c.-65+480G>A (n.-65+480G>A)
1	g.94062695C>A	CA226937	ABCA4	c.1819G>T (p.Gly607Trp) c.-65+479G>T (n.-65+479G>T)	ClinVar dbSNP
1	g.94062695C=	CA1140726089	ABCA4	c.1819G= (p.Gly607=) c.-65+479G= (n.-65+479G=)
1	g.94062695C>G	CA341279593	ABCA4	c.1819G>C (p.Gly607Arg) c.-65+479G>C (n.-65+479G>C)	ClinVar dbSNP
1	g.94062695C>T	CA226936	ABCA4	c.1819G>A (p.Gly607Arg) c.-65+479G>A (n.-65+479G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94062696G>A	CA958418	ABCA4	c.1818C>T (p.Gly606=) c.-65+478C>T (n.-65+478C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94062696G>C	CA418822158	ABCA4	c.1818C>G (p.Gly606=) c.-65+478C>G (n.-65+478C>G)
1	g.94062696G=	CA1144174338	ABCA4	c.1818C= (p.Gly606=) c.-65+478C= (n.-65+478C=)
1	g.94062696G>T	CA418822159	ABCA4	c.1818C>A (p.Gly606=) c.-65+478C>A (n.-65+478C>A)	COSMIC COSMIC
1	g.94062697C>A	CA341279599	ABCA4	c.1817G>T (p.Gly606Val) c.-65+477G>T (n.-65+477G>T)
1	g.94062697C=	CA1142209313	ABCA4	c.1817G= (p.Gly606=) c.-65+477G= (n.-65+477G=)
1	g.94062697C>G	CA341279597	ABCA4	c.1817G>C (p.Gly606Ala) c.-65+477G>C (n.-65+477G>C)
1	g.94062697C>T	CA958419	ABCA4	c.1817G>A (p.Gly606Asp) c.-65+477G>A (n.-65+477G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1	g.94062698C>A	CA341279601	ABCA4	c.1816G>T (p.Gly606Cys) c.-65+476G>T (n.-65+476G>T)
1	g.94062698C=	CA1181418848	ABCA4	c.1816G= (p.Gly606=) c.-65+476G= (n.-65+476G=)
1	g.94062698C>G	CA341279603	ABCA4	c.1816G>C (p.Gly606Arg) c.-65+476G>C (n.-65+476G>C)
1	g.94062698C>T	CA341279605	ABCA4	c.1816G>A (p.Gly606Ser) c.-65+476G>A (n.-65+476G>A)	dbSNP
1	g.94062699C>A	CA341279608	ABCA4	c.1815G>T (p.Trp605Cys) c.-65+475G>T (n.-65+475G>T)
1	g.94062699C>G	CA341279609	ABCA4	c.1815G>C (p.Trp605Cys) c.-65+475G>C (n.-65+475G>C)
1	g.94062699C>T	CA341279611	ABCA4	c.1815G>A (p.Trp605Ter) c.-65+475G>A (n.-65+475G>A)
1	g.94062700C>A	CA341279613	ABCA4	c.1814G>T (p.Trp605Leu) c.-65+474G>T (n.-65+474G>T)
1	g.94062700C>G	CA341279616	ABCA4	c.1814G>C (p.Trp605Ser) c.-65+474G>C (n.-65+474G>C)
1	g.94062700C>T	CA341279614	ABCA4	c.1814G>A (p.Trp605Ter) c.-65+474G>A (n.-65+474G>A)	ClinVar dbSNP
1	g.94062700_94062701delinsCA	CA1181418849	ABCA4	c.1813_1814delinsTG (p.Trp605=) c.-65+473_-65+474delinsTG (n.-65+473_-65+474delinsTG)
1	g.94062701del	CA1181418850	ABCA4	c.1813del (p.Trp605GlyfsTer?) c.-65+473del (n.-65+473del)	ClinVar dbSNP
1	g.94062701A>C	CA341279619	ABCA4	c.1813T>G (p.Trp605Gly) c.-65+473T>G (n.-65+473T>G)
1	g.94062701A>G	CA341279621	ABCA4	c.1813T>C (p.Trp605Arg) c.-65+473T>C (n.-65+473T>C)
1	g.94062701A>T	CA341279625	ABCA4	c.1813T>A (p.Trp605Arg) c.-65+473T>A (n.-65+473T>A)
1	g.94062702G>A	CA418822164	ABCA4	c.1812C>T (p.Ile604=) c.-65+472C>T (n.-65+472C>T)
1	g.94062702G>C	CA341279628	ABCA4	c.1812C>G (p.Ile604Met) c.-65+472C>G (n.-65+472C>G)
1	g.94062702G>T	CA418822165	ABCA4	c.1812C>A (p.Ile604=) c.-65+472C>A (n.-65+472C>A)	gnomAD v4
1	g.94062703A=	CA1140726093	ABCA4	c.1811T= (p.Ile604=) c.-65+471T= (n.-65+471T=)
1	g.94062703A>C	CA226934	ABCA4	c.1811T>G (p.Ile604Ser) c.-65+471T>G (n.-65+471T>G)	ClinVar dbSNP
1	g.94062703A>G	CA341279631	ABCA4	c.1811T>C (p.Ile604Thr) c.-65+471T>C (n.-65+471T>C)
1	g.94062703A>T	CA341279632	ABCA4	c.1811T>A (p.Ile604Asn) c.-65+471T>A (n.-65+471T>A)
1	g.94062704T>A	CA341279634	ABCA4	c.1810A>T (p.Ile604Phe) c.-65+470A>T (n.-65+470A>T)
1	g.94062704T>C	CA341279636	ABCA4	c.1810A>G (p.Ile604Val) c.-65+470A>G (n.-65+470A>G)	dbSNP gnomAD v4
1	g.94062704T>G	CA341279637	ABCA4	c.1810A>C (p.Ile604Leu) c.-65+470A>C (n.-65+470A>C)
1	g.94062704T=	CA1181418851	ABCA4	c.1810A= (p.Ile604=) c.-65+470A= (n.-65+470A=)
1	g.94062705del	CA2697552526	ABCA4	c.1809del (p.Tyr603Ter) c.-65+469del (n.-65+469del)	ClinVar
1	g.94062705G>A	CA418822170	ABCA4	c.1809C>T (p.Tyr603=) c.-65+469C>T (n.-65+469C>T)
1	g.94062705G>C	CA341279640	ABCA4	c.1809C>G (p.Tyr603Ter) c.-65+469C>G (n.-65+469C>G)
1	g.94062705G>T	CA341279641	ABCA4	c.1809C>A (p.Tyr603Ter) c.-65+469C>A (n.-65+469C>A)
1	g.94062706T>A	CA341279642	ABCA4	c.1808A>T (p.Tyr603Phe) c.-65+468A>T (n.-65+468A>T)	ClinVar dbSNP
1	g.94062706T>C	CA341279646	ABCA4	c.1808A>G (p.Tyr603Cys) c.-65+468A>G (n.-65+468A>G)	ClinVar
1	g.94062706T>G	CA341279643	ABCA4	c.1808A>C (p.Tyr603Ser) c.-65+468A>C (n.-65+468A>C)
1	g.94062707A=	CA1181418852	ABCA4	c.1807T= (p.Tyr603=) c.-65+467T= (n.-65+467T=)
1	g.94062707A>C	CA341279648	ABCA4	c.1807T>G (p.Tyr603Asp) c.-65+467T>G (n.-65+467T>G)
1	g.94062707A>G	CA16617211	ABCA4	c.1807T>C (p.Tyr603His) c.-65+467T>C (n.-65+467T>C)	ClinVar dbSNP gnomAD v4
1	g.94062707A>T	CA341279651	ABCA4	c.1807T>A (p.Tyr603Asn) c.-65+467T>A (n.-65+467T>A)
1	g.94062708C>A	CA418822176	ABCA4	c.1806G>T (p.Arg602=) c.-65+466G>T (n.-65+466G>T)	gnomAD v4
1	g.94062708C>G	CA418822174	ABCA4	c.1806G>C (p.Arg602=) c.-65+466G>C (n.-65+466G>C)	gnomAD v4
1	g.94062708C>T	CA418822175	ABCA4	c.1806G>A (p.Arg602=) c.-65+466G>A (n.-65+466G>A)
1	g.94062709C>A	CA341279653	ABCA4	c.1805G>T (p.Arg602Leu) c.-65+465G>T (n.-65+465G>T)
1	g.94062709C=	CA1140726096	ABCA4	c.1805G= (p.Arg602=) c.-65+465G= (n.-65+465G=)
1	g.94062709C>G	CA341279655	ABCA4	c.1805G>C (p.Arg602Pro) c.-65+465G>C (n.-65+465G>C)	ClinVar gnomAD v4
1	g.94062709C>T	CA226933	ABCA4	c.1805G>A (p.Arg602Gln) c.-65+465G>A (n.-65+465G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94062710G>A	CA226932	ABCA4	c.1804C>T (p.Arg602Trp) c.-65+464C>T (n.-65+464C>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1	g.94062710G>C	CA341279659	ABCA4	c.1804C>G (p.Arg602Gly) c.-65+464C>G (n.-65+464C>G)
1	g.94062710G=	CA1140726099	ABCA4	c.1804C= (p.Arg602=) c.-65+464C= (n.-65+464C=)
1	g.94062710G>T	CA418822178	ABCA4	c.1804C>A (p.Arg602=) c.-65+464C>A (n.-65+464C>A)
1	g.94062711G>A	CA958420	ABCA4	c.1803C>T (p.Phe601=) c.-65+463C>T (n.-65+463C>T)	dbSNP ExAC gnomAD v2
1	g.94062711G>C	CA341279661	ABCA4	c.1803C>G (p.Phe601Leu) c.-65+463C>G (n.-65+463C>G)
1	g.94062711G=	CA1181418853	ABCA4	c.1803C= (p.Phe601=) c.-65+463C= (n.-65+463C=)
1	g.94062711G>T	CA341279663	ABCA4	c.1803C>A (p.Phe601Leu) c.-65+463C>A (n.-65+463C>A)
1	g.94062712A=	CA1181418854	ABCA4	c.1802T= (p.Phe601=) c.-65+462T= (n.-65+462T=)
1	g.94062712A>C	CA341279668	ABCA4	c.1802T>G (p.Phe601Cys) c.-65+462T>G (n.-65+462T>G)	dbSNP gnomAD v3 gnomAD v4
1	g.94062712A>G	CA341279666	ABCA4	c.1802T>C (p.Phe601Ser) c.-65+462T>C (n.-65+462T>C)
1	g.94062712A>T	CA341279665	ABCA4	c.1802T>A (p.Phe601Tyr) c.-65+462T>A (n.-65+462T>A)
1	g.94062713A=	CA1181418855	ABCA4	c.1801T= (p.Phe601=) c.-65+461T= (n.-65+461T=)
1	g.94062713A>C	CA341279671	ABCA4	c.1801T>G (p.Phe601Val) c.-65+461T>G (n.-65+461T>G)
1	g.94062713A>G	CA341279673	ABCA4	c.1801T>C (p.Phe601Leu) c.-65+461T>C (n.-65+461T>C)	dbSNP
1	g.94062713A>T	CA341279675	ABCA4	c.1801T>A (p.Phe601Ile) c.-65+461T>A (n.-65+461T>A)
1	g.94062714A>C	CA341279677	ABCA4	c.1800T>G (p.Asp600Glu) c.-65+460T>G (n.-65+460T>G)
1	g.94062714A>G	CA418822182	ABCA4	c.1800T>C (p.Asp600=) c.-65+460T>C (n.-65+460T>C)	gnomAD v4
1	g.94062714A>T	CA341279678	ABCA4	c.1800T>A (p.Asp600Glu) c.-65+460T>A (n.-65+460T>A)
1	g.94062715T>A	CA341279680	ABCA4	c.1799A>T (p.Asp600Val) c.-65+459A>T (n.-65+459A>T)
1	g.94062715T>C	CA341279681	ABCA4	c.1799A>G (p.Asp600Gly) c.-65+459A>G (n.-65+459A>G)
1	g.94062715T>G	CA341279684	ABCA4	c.1799A>C (p.Asp600Ala) c.-65+459A>C (n.-65+459A>C)

Number of alleles fetched