| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.94021280del | CA645372208 | ABCA4 | c.4981del (p.Leu1661Ter) n.475del n.91del c.1357del (p.Leu453Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021278G>A | CA418821675 | ABCA4 | c.4980C>T (p.Pro1660=) n.474C>T n.90C>T c.1356C>T (p.Pro452=) | |
| 1 | g.94021278G>C | CA418821676 | ABCA4 | c.4980C>G (p.Pro1660=) n.474C>G n.90C>G c.1356C>G (p.Pro452=) | gnomAD v4 |
| 1 | g.94021278G= | CA1181408090 | ABCA4 | c.4980C= (p.Pro1660=) n.474C= n.90C= c.1356C= (p.Pro452=) | |
| 1 | g.94021278G>T | CA418821677 | ABCA4 | c.4980C>A (p.Pro1660=) n.474C>A n.90C>A c.1356C>A (p.Pro452=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021279G>A | CA10602425 | ABCA4 | c.4979C>T (p.Pro1660Leu) n.473C>T n.89C>T c.1355C>T (p.Pro452Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021279G>C | CA341282965 | ABCA4 | c.4979C>G (p.Pro1660Arg) n.473C>G n.89C>G c.1355C>G (p.Pro452Arg) | ClinVar dbSNP |
| 1 | g.94021279G= | CA1181408094 | ABCA4 | c.4979C= (p.Pro1660=) n.473C= n.89C= c.1355C= (p.Pro452=) | |
| 1 | g.94021279G>T | CA341282966 | ABCA4 | c.4979C>A (p.Pro1660His) n.473C>A n.89C>A c.1355C>A (p.Pro452His) | |
| 1 | g.94021280G>A | CA341282967 | ABCA4 | c.4978C>T (p.Pro1660Ser) n.472C>T n.88C>T c.1354C>T (p.Pro452Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021280G>C | CA341282968 | ABCA4 | c.4978C>G (p.Pro1660Ala) n.472C>G n.88C>G c.1354C>G (p.Pro452Ala) | |
| 1 | g.94021280G= | CA1181408095 | ABCA4 | c.4978C= (p.Pro1660=) n.472C= n.88C= c.1354C= (p.Pro452=) | |
| 1 | g.94021280G>T | CA341282969 | ABCA4 | c.4978C>A (p.Pro1660Thr) n.472C>A n.88C>A c.1354C>A (p.Pro452Thr) | gnomAD v4 |
| 1 | g.94021281T>A | CA341282970 | ABCA4 | c.4977A>T (p.Gln1659His) n.471A>T n.87A>T c.1353A>T (p.Gln451His) | gnomAD v4 |
| 1 | g.94021281T>C | CA418821679 | ABCA4 | c.4977A>G (p.Gln1659=) n.471A>G n.87A>G c.1353A>G (p.Gln451=) | |
| 1 | g.94021281T>G | CA341282971 | ABCA4 | c.4977A>C (p.Gln1659His) n.471A>C n.87A>C c.1353A>C (p.Gln451His) | dbSNP |
| 1 | g.94021281T= | CA1181408099 | ABCA4 | c.4977A= (p.Gln1659=) n.471A= n.87A= c.1353A= (p.Gln451=) | |
| 1 | g.94021282T>A | CA341282972 | ABCA4 | c.4976A>T (p.Gln1659Leu) n.470A>T n.86A>T c.1352A>T (p.Gln451Leu) | |
| 1 | g.94021282T>C | CA341282973 | ABCA4 | c.4976A>G (p.Gln1659Arg) n.470A>G n.86A>G c.1352A>G (p.Gln451Arg) | gnomAD v4 |
| 1 | g.94021282T>G | CA341282974 | ABCA4 | c.4976A>C (p.Gln1659Pro) n.470A>C n.86A>C c.1352A>C (p.Gln451Pro) | |
| 1 | g.94021283G>A | CA341282976 | ABCA4 | c.4975C>T (p.Gln1659Ter) n.469C>T n.85C>T c.1351C>T (p.Gln451Ter) | |
| 1 | g.94021283G>C | CA957417 | ABCA4 | c.4975C>G (p.Gln1659Glu) n.469C>G n.85C>G c.1351C>G (p.Gln451Glu) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.94021283G= | CA1142295722 | ABCA4 | c.4975C= (p.Gln1659=) n.469C= n.85C= c.1351C= (p.Gln451=) | |
| 1 | g.94021283G>T | CA341282975 | ABCA4 | c.4975C>A (p.Gln1659Lys) n.469C>A n.85C>A c.1351C>A (p.Gln451Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021284G>A | CA418821682 | ABCA4 | c.4974C>T (p.Ser1658=) n.468C>T n.84C>T c.1350C>T (p.Ser450=) | |
| 1 | g.94021284G>C | CA341282977 | ABCA4 | c.4974C>G (p.Ser1658Arg) n.468C>G n.84C>G c.1350C>G (p.Ser450Arg) | ClinVar dbSNP |
| 1 | g.94021284G= | CA1181408104 | ABCA4 | c.4974C= (p.Ser1658=) n.468C= n.84C= c.1350C= (p.Ser450=) | |
| 1 | g.94021284G>T | CA341282978 | ABCA4 | c.4974C>A (p.Ser1658Arg) n.468C>A n.84C>A c.1350C>A (p.Ser450Arg) | |
| 1 | g.94021285C>A | CA341282979 | ABCA4 | c.4973G>T (p.Ser1658Ile) n.467G>T n.83G>T c.1349G>T (p.Ser450Ile) | |
| 1 | g.94021285C>G | CA341282981 | ABCA4 | c.4973G>C (p.Ser1658Thr) n.467G>C n.83G>C c.1349G>C (p.Ser450Thr) | |
| 1 | g.94021285C>T | CA341282980 | ABCA4 | c.4973G>A (p.Ser1658Asn) n.467G>A n.83G>A c.1349G>A (p.Ser450Asn) | |
| 1 | g.94021286T>A | CA341282982 | ABCA4 | c.4972A>T (p.Ser1658Cys) n.466A>T n.82A>T c.1348A>T (p.Ser450Cys) | |
| 1 | g.94021286T>C | CA341282983 | ABCA4 | c.4972A>G (p.Ser1658Gly) n.466A>G n.82A>G c.1348A>G (p.Ser450Gly) | gnomAD v4 |
| 1 | g.94021286T>G | CA957418 | ABCA4 | c.4972A>C (p.Ser1658Arg) n.466A>C n.82A>C c.1348A>C (p.Ser450Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021286T= | CA1181408106 | ABCA4 | c.4972A= (p.Ser1658=) n.466A= n.82A= c.1348A= (p.Ser450=) | |
| 1 | g.94021287A>C | CA341282984 | ABCA4 | c.4971T>G (p.Ile1657Met) n.465T>G n.81T>G c.1347T>G (p.Ile449Met) | |
| 1 | g.94021287A>G | CA418821685 | ABCA4 | c.4971T>C (p.Ile1657=) n.465T>C n.81T>C c.1347T>C (p.Ile449=) | |
| 1 | g.94021287A>T | CA418821684 | ABCA4 | c.4971T>A (p.Ile1657=) n.465T>A n.81T>A c.1347T>A (p.Ile449=) | |
| 1 | g.94021288A= | CA1181408107 | ABCA4 | c.4970T= (p.Ile1657=) n.464T= n.80T= c.1346T= (p.Ile449=) | |
| 1 | g.94021288A>C | CA341282985 | ABCA4 | c.4970T>G (p.Ile1657Ser) n.464T>G n.80T>G c.1346T>G (p.Ile449Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021288A>G | CA341282986 | ABCA4 | c.4970T>C (p.Ile1657Thr) n.464T>C n.80T>C c.1346T>C (p.Ile449Thr) | |
| 1 | g.94021288A>T | CA341282987 | ABCA4 | c.4970T>A (p.Ile1657Asn) n.464T>A n.80T>A c.1346T>A (p.Ile449Asn) | |
| 1 | g.94021289T>A | CA341282988 | ABCA4 | c.4969A>T (p.Ile1657Phe) n.463A>T n.79A>T c.1345A>T (p.Ile449Phe) | |
| 1 | g.94021289T>C | CA341282989 | ABCA4 | c.4969A>G (p.Ile1657Val) n.463A>G n.79A>G c.1345A>G (p.Ile449Val) | dbSNP COSMIC |
| 1 | g.94021289T>G | CA341282990 | ABCA4 | c.4969A>C (p.Ile1657Leu) n.463A>C n.79A>C c.1345A>C (p.Ile449Leu) | |
| 1 | g.94021290G>A | CA418821688 | ABCA4 | c.4968C>T (p.Val1656=) n.462C>T n.78C>T c.1344C>T (p.Val448=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021290G>C | CA418821689 | ABCA4 | c.4968C>G (p.Val1656=) n.462C>G n.78C>G c.1344C>G (p.Val448=) | |
| 1 | g.94021290G= | CA1181408108 | ABCA4 | c.4968C= (p.Val1656=) n.462C= n.78C= c.1344C= (p.Val448=) | |
| 1 | g.94021290G>T | CA418821690 | ABCA4 | c.4968C>A (p.Val1656=) n.462C>A n.78C>A c.1344C>A (p.Val448=) | |
| 1 | g.94021291A>C | CA341282991 | ABCA4 | c.4967T>G (p.Val1656Gly) n.461T>G n.77T>G c.1343T>G (p.Val448Gly) | |
| 1 | g.94021291A>G | CA341282992 | ABCA4 | c.4967T>C (p.Val1656Ala) n.461T>C n.77T>C c.1343T>C (p.Val448Ala) | |
| 1 | g.94021291A>T | CA341282993 | ABCA4 | c.4967T>A (p.Val1656Asp) n.461T>A n.77T>A c.1343T>A (p.Val448Asp) | |
| 1 | g.94021292C>A | CA341282995 | ABCA4 | c.4966G>T (p.Val1656Phe) n.460G>T n.76G>T c.1342G>T (p.Val448Phe) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021292C= | CA1181408114 | ABCA4 | c.4966G= (p.Val1656=) n.460G= n.76G= c.1342G= (p.Val448=) | |
| 1 | g.94021292C>G | CA341282994 | ABCA4 | c.4966G>C (p.Val1656Leu) n.460G>C n.76G>C c.1342G>C (p.Val448Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021292C>T | CA957419 | ABCA4 | c.4966G>A (p.Val1656Ile) n.460G>A n.76G>A c.1342G>A (p.Val448Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94021295_94021312dup | CA2646647747 | ABCA4 | c.4949_4966dup (p.Thr1655_Val1656insGluGluTyrGlyIleThr) n.443_460dup n.59_76dup c.1325_1342dup (p.Thr447_Val448insGluGluTyrGlyIleThr) | gnomAD v4 |
| 1 | g.94021293G>A | CA957420 | ABCA4 | c.4965C>T (p.Thr1655=) n.459C>T n.75C>T c.1341C>T (p.Thr447=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021293G>C | CA418821691 | ABCA4 | c.4965C>G (p.Thr1655=) n.459C>G n.75C>G c.1341C>G (p.Thr447=) | |
| 1 | g.94021293G= | CA1181408116 | ABCA4 | c.4965C= (p.Thr1655=) n.459C= n.75C= c.1341C= (p.Thr447=) | |
| 1 | g.94021293G>T | CA418821693 | ABCA4 | c.4965C>A (p.Thr1655=) n.459C>A n.75C>A c.1341C>A (p.Thr447=) | |
| 1 | g.94021294G>A | CA341282996 | ABCA4 | c.4964C>T (p.Thr1655Ile) n.458C>T n.74C>T c.1340C>T (p.Thr447Ile) | gnomAD v4 COSMIC |
| 1 | g.94021294G>C | CA341282997 | ABCA4 | c.4964C>G (p.Thr1655Ser) n.458C>G n.74C>G c.1340C>G (p.Thr447Ser) | |
| 1 | g.94021294G>T | CA341282998 | ABCA4 | c.4964C>A (p.Thr1655Asn) n.458C>A n.74C>A c.1340C>A (p.Thr447Asn) | gnomAD v4 |
| 1 | g.94021295T>A | CA341282999 | ABCA4 | c.4963A>T (p.Thr1655Ser) n.457A>T n.73A>T c.1339A>T (p.Thr447Ser) | |
| 1 | g.94021295T>C | CA341283000 | ABCA4 | c.4963A>G (p.Thr1655Ala) n.457A>G n.73A>G c.1339A>G (p.Thr447Ala) | |
| 1 | g.94021295T>G | CA341283001 | ABCA4 | c.4963A>C (p.Thr1655Pro) n.457A>C n.73A>C c.1339A>C (p.Thr447Pro) | |
| 1 | g.94021296G>A | CA418821695 | ABCA4 | c.4962C>T (p.Ile1654=) n.456C>T n.72C>T c.1338C>T (p.Ile446=) | |
| 1 | g.94021296G>C | CA341283002 | ABCA4 | c.4962C>G (p.Ile1654Met) n.456C>G n.72C>G c.1338C>G (p.Ile446Met) | |
| 1 | g.94021296G>T | CA418821696 | ABCA4 | c.4962C>A (p.Ile1654=) n.456C>A n.72C>A c.1338C>A (p.Ile446=) | |
| 1 | g.94021297A>C | CA341283003 | ABCA4 | c.4961T>G (p.Ile1654Ser) n.455T>G n.71T>G c.1337T>G (p.Ile446Ser) | |
| 1 | g.94021297A>G | CA341283004 | ABCA4 | c.4961T>C (p.Ile1654Thr) n.455T>C n.71T>C c.1337T>C (p.Ile446Thr) | |
| 1 | g.94021297A>T | CA341283005 | ABCA4 | c.4961T>A (p.Ile1654Asn) n.455T>A n.71T>A c.1337T>A (p.Ile446Asn) | |
| 1 | g.94021298T>A | CA341283006 | ABCA4 | c.4960A>T (p.Ile1654Phe) n.454A>T n.70A>T c.1336A>T (p.Ile446Phe) | |
| 1 | g.94021298T>C | CA341283007 | ABCA4 | c.4960A>G (p.Ile1654Val) n.454A>G n.70A>G c.1336A>G (p.Ile446Val) | |
| 1 | g.94021298T>G | CA341283008 | ABCA4 | c.4960A>C (p.Ile1654Leu) n.454A>C n.70A>C c.1336A>C (p.Ile446Leu) | |
| 1 | g.94021299T>A | CA418821697 | ABCA4 | c.4959A>T (p.Gly1653=) n.453A>T n.69A>T c.1335A>T (p.Gly445=) | |
| 1 | g.94021299T>C | CA418821698 | ABCA4 | c.4959A>G (p.Gly1653=) n.453A>G n.69A>G c.1335A>G (p.Gly445=) | |
| 1 | g.94021299T>G | CA418821699 | ABCA4 | c.4959A>C (p.Gly1653=) n.453A>C n.69A>C c.1335A>C (p.Gly445=) | dbSNP gnomAD v4 |
| 1 | g.94021299T= | CA1181408117 | ABCA4 | c.4959A= (p.Gly1653=) n.453A= n.69A= c.1335A= (p.Gly445=) | |
| 1 | g.94021300C>A | CA341283010 | ABCA4 | c.4958G>T (p.Gly1653Val) n.452G>T n.68G>T c.1334G>T (p.Gly445Val) | |
| 1 | g.94021300C= | CA1181408120 | ABCA4 | c.4958G= (p.Gly1653=) n.452G= n.68G= c.1334G= (p.Gly445=) | |
| 1 | g.94021300C>G | CA341283011 | ABCA4 | c.4958G>C (p.Gly1653Ala) n.452G>C n.68G>C c.1334G>C (p.Gly445Ala) | |
| 1 | g.94021300C>T | CA341283009 | ABCA4 | c.4958G>A (p.Gly1653Glu) n.452G>A n.68G>A c.1334G>A (p.Gly445Glu) | ClinVar dbSNP COSMIC |
| 1 | g.94021301C>A | CA341283012 | ABCA4 | c.4957G>T (p.Gly1653Ter) n.451G>T n.67G>T c.1333G>T (p.Gly445Ter) | |
| 1 | g.94021301C>G | CA341283013 | ABCA4 | c.4957G>C (p.Gly1653Arg) n.451G>C n.67G>C c.1333G>C (p.Gly445Arg) | |
| 1 | g.94021301C>T | CA341283014 | ABCA4 | c.4957G>A (p.Gly1653Arg) n.451G>A n.67G>A c.1333G>A (p.Gly445Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021302A= | CA1140725932 | ABCA4 | c.4956T= (p.Tyr1652=) n.450T= n.66T= c.1332T= (p.Tyr444=) | |
| 1 | g.94021302A>C | CA227259 | ABCA4 | c.4956T>G (p.Tyr1652Ter) n.450T>G n.66T>G c.1332T>G (p.Tyr444Ter) | ClinVar dbSNP |
| 1 | g.94021302A>G | CA26844823 | ABCA4 | c.4956T>C (p.Tyr1652=) n.450T>C n.66T>C c.1332T>C (p.Tyr444=) | dbSNP COSMIC |
| 1 | g.94021302A>T | CA341283015 | ABCA4 | c.4956T>A (p.Tyr1652Ter) n.450T>A n.66T>A c.1332T>A (p.Tyr444Ter) | |
| 1 | g.94021303T>A | CA341283016 | ABCA4 | c.4955A>T (p.Tyr1652Phe) n.449A>T n.65A>T c.1331A>T (p.Tyr444Phe) | |
| 1 | g.94021303T>C | CA341283017 | ABCA4 | c.4955A>G (p.Tyr1652Cys) n.449A>G n.65A>G c.1331A>G (p.Tyr444Cys) | gnomAD v4 |
| 1 | g.94021303T>G | CA341283018 | ABCA4 | c.4955A>C (p.Tyr1652Ser) n.449A>C n.65A>C c.1331A>C (p.Tyr444Ser) | |
| 1 | g.94021304A= | CA1140725935 | ABCA4 | c.4954T= (p.Tyr1652=) n.448T= n.64T= c.1330T= (p.Tyr444=) | |
| 1 | g.94021304A>C | CA227258 | ABCA4 | c.4954T>G (p.Tyr1652Asp) n.448T>G n.64T>G c.1330T>G (p.Tyr444Asp) | ClinVar dbSNP |
| 1 | g.94021304A>G | CA341283019 | ABCA4 | c.4954T>C (p.Tyr1652His) n.448T>C n.64T>C c.1330T>C (p.Tyr444His) | |
| 1 | g.94021304A>T | CA341283020 | ABCA4 | c.4954T>A (p.Tyr1652Asn) n.448T>A n.64T>A c.1330T>A (p.Tyr444Asn) | gnomAD v4 |
| 1 | g.94021305C>A | CA341283021 | ABCA4 | c.4953G>T (p.Glu1651Asp) n.447G>T n.63G>T c.1329G>T (p.Glu443Asp) | dbSNP gnomAD v4 |
| 1 | g.94021305C= | CA1181408125 | ABCA4 | c.4953G= (p.Glu1651=) n.447G= n.63G= c.1329G= (p.Glu443=) | |
| 1 | g.94021305C>G | CA341283022 | ABCA4 | c.4953G>C (p.Glu1651Asp) n.447G>C n.63G>C c.1329G>C (p.Glu443Asp) | gnomAD v4 |
| 1 | g.94021305C>T | CA418821701 | ABCA4 | c.4953G>A (p.Glu1651=) n.447G>A n.63G>A c.1329G>A (p.Glu443=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021306T>A | CA341283023 | ABCA4 | c.4952A>T (p.Glu1651Val) n.446A>T n.62A>T c.1328A>T (p.Glu443Val) | |
| 1 | g.94021306T>C | CA341283025 | ABCA4 | c.4952A>G (p.Glu1651Gly) n.446A>G n.62A>G c.1328A>G (p.Glu443Gly) | |
| 1 | g.94021306T>G | CA341283024 | ABCA4 | c.4952A>C (p.Glu1651Ala) n.446A>C n.62A>C c.1328A>C (p.Glu443Ala) | |
| 1 | g.94021307C>A | CA341283026 | ABCA4 | c.4951G>T (p.Glu1651Ter) n.445G>T n.61G>T c.1327G>T (p.Glu443Ter) | |
| 1 | g.94021307C= | CA1181408126 | ABCA4 | c.4951G= (p.Glu1651=) n.445G= n.61G= c.1327G= (p.Glu443=) | |
| 1 | g.94021307C>G | CA341283027 | ABCA4 | c.4951G>C (p.Glu1651Gln) n.445G>C n.61G>C c.1327G>C (p.Glu443Gln) | dbSNP |
| 1 | g.94021307C>T | CA957421 | ABCA4 | c.4951G>A (p.Glu1651Lys) n.445G>A n.61G>A c.1327G>A (p.Glu443Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94021308C>A | CA341283028 | ABCA4 | c.4950G>T (p.Glu1650Asp) n.444G>T n.60G>T c.1326G>T (p.Glu442Asp) | |
| 1 | g.94021308C>G | CA341283029 | ABCA4 | c.4950G>C (p.Glu1650Asp) n.444G>C n.60G>C c.1326G>C (p.Glu442Asp) | |
| 1 | g.94021308C>T | CA418821702 | ABCA4 | c.4950G>A (p.Glu1650=) n.444G>A n.60G>A c.1326G>A (p.Glu442=) | gnomAD v4 |
| 1 | g.94021309T>A | CA341283030 | ABCA4 | c.4949A>T (p.Glu1650Val) n.443A>T n.59A>T c.1325A>T (p.Glu442Val) | |
| 1 | g.94021309T>C | CA341283031 | ABCA4 | c.4949A>G (p.Glu1650Gly) n.443A>G n.59A>G c.1325A>G (p.Glu442Gly) | dbSNP |
| 1 | g.94021309T>G | CA341283032 | ABCA4 | c.4949A>C (p.Glu1650Ala) n.443A>C n.59A>C c.1325A>C (p.Glu442Ala) | |
| 1 | g.94021309T= | CA1181408127 | ABCA4 | c.4949A= (p.Glu1650=) n.443A= n.59A= c.1325A= (p.Glu442=) | |
| 1 | g.94021310C>A | CA341283033 | ABCA4 | c.4948G>T (p.Glu1650Ter) n.442G>T n.58G>T c.1324G>T (p.Glu442Ter) | |
| 1 | g.94021310C= | CA1181408130 | ABCA4 | c.4948G= (p.Glu1650=) n.442G= n.58G= c.1324G= (p.Glu442=) | |
| 1 | g.94021310C>G | CA341283034 | ABCA4 | c.4948G>C (p.Glu1650Gln) n.442G>C n.58G>C c.1324G>C (p.Glu442Gln) | |
| 1 | g.94021310C>T | CA957422 | ABCA4 | c.4948G>A (p.Glu1650Lys) n.442G>A n.58G>A c.1324G>A (p.Glu442Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021310_94021311delinsCG | CA1181408131 | ABCA4 | c.4947_4948delinsCG (p.Pro1649=) n.441_442delinsCG n.57_58delinsCG c.1323_1324delinsCG (p.Pro441=) | |
| 1 | g.94021311G>A | CA957423 | ABCA4 | c.4947C>T (p.Pro1649=) n.441C>T n.57C>T c.1323C>T (p.Pro441=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94021311G>C | CA418821706 | ABCA4 | c.4947C>G (p.Pro1649=) n.441C>G n.57C>G c.1323C>G (p.Pro441=) | ClinVar |
| 1 | g.94021311G= | CA1181408135 | ABCA4 | c.4947C= (p.Pro1649=) n.441C= n.57C= c.1323C= (p.Pro441=) | |
| 1 | g.94021311G>T | CA418821707 | ABCA4 | c.4947C>A (p.Pro1649=) n.441C>A n.57C>A c.1323C>A (p.Pro441=) | |
| 1 | g.94021311_94021314delinsGGGG | CA1140725938 | ABCA4 | c.4944_4947delinsCCCC (p.Ser1648=) n.438_441delinsCCCC n.54_57delinsCCCC c.1320_1323delinsCCCC (p.Ser440=) | |
| 1 | g.94021314del | CA227257 | ABCA4 | c.4947del (p.Glu1650ArgfsTer12) n.441del n.57del c.1323del (p.Glu442ArgfsTer12) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021312G>A | CA341283035 | ABCA4 | c.4946C>T (p.Pro1649Leu) n.440C>T n.56C>T c.1322C>T (p.Pro441Leu) | |
| 1 | g.94021312G>C | CA341283036 | ABCA4 | c.4946C>G (p.Pro1649Arg) n.440C>G n.56C>G c.1322C>G (p.Pro441Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021312G= | CA1181408136 | ABCA4 | c.4946C= (p.Pro1649=) n.440C= n.56C= c.1322C= (p.Pro441=) | |
| 1 | g.94021312G>T | CA341283037 | ABCA4 | c.4946C>A (p.Pro1649His) n.440C>A n.56C>A c.1322C>A (p.Pro441His) | gnomAD v4 |
| 1 | g.94021313G>A | CA10611704 | ABCA4 | c.4945C>T (p.Pro1649Ser) n.439C>T n.55C>T c.1321C>T (p.Pro441Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021313G>C | CA341283038 | ABCA4 | c.4945C>G (p.Pro1649Ala) n.439C>G n.55C>G c.1321C>G (p.Pro441Ala) | |
| 1 | g.94021313G= | CA1181408137 | ABCA4 | c.4945C= (p.Pro1649=) n.439C= n.55C= c.1321C= (p.Pro441=) | |
| 1 | g.94021313G>T | CA341283039 | ABCA4 | c.4945C>A (p.Pro1649Thr) n.439C>A n.55C>A c.1321C>A (p.Pro441Thr) | |
| 1 | g.94021314G>A | CA418821708 | ABCA4 | c.4944C>T (p.Ser1648=) n.438C>T n.54C>T c.1320C>T (p.Ser440=) | dbSNP |
| 1 | g.94021314G>C | CA341283040 | ABCA4 | c.4944C>G (p.Ser1648Arg) n.438C>G n.54C>G c.1320C>G (p.Ser440Arg) | |
| 1 | g.94021314G= | CA1181408139 | ABCA4 | c.4944C= (p.Ser1648=) n.438C= n.54C= c.1320C= (p.Ser440=) | |
| 1 | g.94021314G>T | CA341283041 | ABCA4 | c.4944C>A (p.Ser1648Arg) n.438C>A n.54C>A c.1320C>A (p.Ser440Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021315C>A | CA341283042 | ABCA4 | c.4943G>T (p.Ser1648Ile) n.437G>T n.53G>T c.1319G>T (p.Ser440Ile) | |
| 1 | g.94021315C= | CA1181408140 | ABCA4 | c.4943G= (p.Ser1648=) n.437G= n.53G= c.1319G= (p.Ser440=) | |
| 1 | g.94021315C>G | CA341283044 | ABCA4 | c.4943G>C (p.Ser1648Thr) n.437G>C n.53G>C c.1319G>C (p.Ser440Thr) | gnomAD v4 |
| 1 | g.94021315C>T | CA341283043 | ABCA4 | c.4943G>A (p.Ser1648Asn) n.437G>A n.53G>A c.1319G>A (p.Ser440Asn) | dbSNP |
| 1 | g.94021316T>A | CA341283045 | ABCA4 | c.4942A>T (p.Ser1648Cys) n.436A>T n.52A>T c.1318A>T (p.Ser440Cys) | |
| 1 | g.94021316T>C | CA341283046 | ABCA4 | c.4942A>G (p.Ser1648Gly) n.436A>G n.52A>G c.1318A>G (p.Ser440Gly) | |
| 1 | g.94021316T>G | CA341283047 | ABCA4 | c.4942A>C (p.Ser1648Arg) n.436A>C n.52A>C c.1318A>C (p.Ser440Arg) | |
| 1 | g.94021316T= | CA1181408142 | ABCA4 | c.4942A= (p.Ser1648=) n.436A= n.52A= c.1318A= (p.Ser440=) | |
| 1 | g.94021316_94021317insGGAATTGATGGACGCGGTGCGTGGCCGCGACGCCGA | CA1181408143 | ABCA4 | c.4941_4942insTCGGCGTCGCGGCCACGCACCGCGTCCATCAATTCC (p.Arg1647_Ser1648insSerAlaSerArgProArgThrAlaSerIleAsnSer) n.435_436insTCGGCGTCGCGGCCACGCACCGCGTCCATCAATTCC n.51_52insTCGGCGTCGCGGCCACGCACCGCGTCCATCAATTCC c.1317_1318insTCGGCGTCGCGGCCACGCACCGCGTCCATCAATTCC (p.Arg439_Ser440insSerAlaSerArgProArgThrAlaSerIleAsnSer) | dbSNP |
| 1 | g.94021317C>A | CA341283048 | ABCA4 | c.4941G>T (p.Arg1647Ser) n.435G>T n.51G>T c.1317G>T (p.Arg439Ser) | COSMIC |
| 1 | g.94021317C>G | CA341283049 | ABCA4 | c.4941G>C (p.Arg1647Ser) n.435G>C n.51G>C c.1317G>C (p.Arg439Ser) | |
| 1 | g.94021317C>T | CA418821709 | ABCA4 | c.4941G>A (p.Arg1647=) n.435G>A n.51G>A c.1317G>A (p.Arg439=) | |
| 1 | g.94021318C>A | CA341283050 | ABCA4 | c.4940G>T (p.Arg1647Met) n.434G>T n.50G>T c.1316G>T (p.Arg439Met) | |
| 1 | g.94021318C>G | CA341283052 | ABCA4 | c.4940G>C (p.Arg1647Thr) n.434G>C n.50G>C c.1316G>C (p.Arg439Thr) | |
| 1 | g.94021318C>T | CA341283051 | ABCA4 | c.4940G>A (p.Arg1647Lys) n.434G>A n.50G>A c.1316G>A (p.Arg439Lys) | |
| 1 | g.94021319T>A | CA341283053 | ABCA4 | c.4939A>T (p.Arg1647Trp) n.433A>T n.49A>T c.1315A>T (p.Arg439Trp) | |
| 1 | g.94021319T>C | CA957424 | ABCA4 | c.4939A>G (p.Arg1647Gly) n.433A>G n.49A>G c.1315A>G (p.Arg439Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021319T>G | CA418821710 | ABCA4 | c.4939A>C (p.Arg1647=) n.433A>C n.49A>C c.1315A>C (p.Arg439=) | |
| 1 | g.94021319T= | CA1181408144 | ABCA4 | c.4939A= (p.Arg1647=) n.433A= n.49A= c.1315A= (p.Arg439=) | |
| 1 | g.94021320del | CA2499214880 | ABCA4 | c.4938del (p.Asp1646GlufsTer16) n.432del n.48del c.1314del (p.Asp438GlufsTer16) | ClinVar dbSNP |
| 1 | g.94021320G>A | CA418821711 | ABCA4 | c.4938C>T (p.Asp1646=) n.432C>T n.48C>T c.1314C>T (p.Asp438=) | |
| 1 | g.94021320G>C | CA341283054 | ABCA4 | c.4938C>G (p.Asp1646Glu) n.432C>G n.48C>G c.1314C>G (p.Asp438Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021320G= | CA1181408145 | ABCA4 | c.4938C= (p.Asp1646=) n.432C= n.48C= c.1314C= (p.Asp438=) | |
| 1 | g.94021320G>T | CA341283055 | ABCA4 | c.4938C>A (p.Asp1646Glu) n.432C>A n.48C>A c.1314C>A (p.Asp438Glu) | |
| 1 | g.94021321T>A | CA341283056 | ABCA4 | c.4937A>T (p.Asp1646Val) n.431A>T n.47A>T c.1313A>T (p.Asp438Val) | gnomAD v4 |
| 1 | g.94021321T>C | CA341283057 | ABCA4 | c.4937A>G (p.Asp1646Gly) n.431A>G n.47A>G c.1313A>G (p.Asp438Gly) | |
| 1 | g.94021321T>G | CA341283058 | ABCA4 | c.4937A>C (p.Asp1646Ala) n.431A>C n.47A>C c.1313A>C (p.Asp438Ala) | |
| 1 | g.94021322C>A | CA26844838 | ABCA4 | c.4936G>T (p.Asp1646Tyr) n.430G>T n.46G>T c.1312G>T (p.Asp438Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.94021322C= | CA1181408146 | ABCA4 | c.4936G= (p.Asp1646=) n.430G= n.46G= c.1312G= (p.Asp438=) | |
| 1 | g.94021322C>G | CA341283059 | ABCA4 | c.4936G>C (p.Asp1646His) n.430G>C n.46G>C c.1312G>C (p.Asp438His) | |
| 1 | g.94021322C>T | CA341283060 | ABCA4 | c.4936G>A (p.Asp1646Asn) n.430G>A n.46G>A c.1312G>A (p.Asp438Asn) | |
| 1 | g.94021323C>A | CA341283061 | ABCA4 | c.4935G>T (p.Lys1645Asn) n.429G>T n.45G>T c.1311G>T (p.Lys437Asn) | |
| 1 | g.94021323C= | CA1181408148 | ABCA4 | c.4935G= (p.Lys1645=) n.429G= n.45G= c.1311G= (p.Lys437=) | |
| 1 | g.94021323C>G | CA957425 | ABCA4 | c.4935G>C (p.Lys1645Asn) n.429G>C n.45G>C c.1311G>C (p.Lys437Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021323C>T | CA418821712 | ABCA4 | c.4935G>A (p.Lys1645=) n.429G>A n.45G>A c.1311G>A (p.Lys437=) | gnomAD v4 |
| 1 | g.94021324T>A | CA341283062 | ABCA4 | c.4934A>T (p.Lys1645Met) n.428A>T n.44A>T c.1310A>T (p.Lys437Met) | |
| 1 | g.94021324T>C | CA341283064 | ABCA4 | c.4934A>G (p.Lys1645Arg) n.428A>G n.44A>G c.1310A>G (p.Lys437Arg) | |
| 1 | g.94021324T>G | CA341283063 | ABCA4 | c.4934A>C (p.Lys1645Thr) n.428A>C n.44A>C c.1310A>C (p.Lys437Thr) | |
| 1 | g.94021325T>A | CA341283065 | ABCA4 | c.4933A>T (p.Lys1645Ter) n.427A>T n.43A>T c.1309A>T (p.Lys437Ter) | |
| 1 | g.94021325T>C | CA341283066 | ABCA4 | c.4933A>G (p.Lys1645Glu) n.427A>G n.43A>G c.1309A>G (p.Lys437Glu) | |
| 1 | g.94021325T>G | CA341283067 | ABCA4 | c.4933A>C (p.Lys1645Gln) n.427A>C n.43A>C c.1309A>C (p.Lys437Gln) | |
| 1 | g.94021326A>C | CA418821713 | ABCA4 | c.4932T>G (p.Pro1644=) n.426T>G n.42T>G c.1308T>G (p.Pro436=) | |
| 1 | g.94021326A>G | CA418821714 | ABCA4 | c.4932T>C (p.Pro1644=) n.426T>C n.42T>C c.1308T>C (p.Pro436=) | dbSNP |
| 1 | g.94021326A>T | CA418821715 | ABCA4 | c.4932T>A (p.Pro1644=) n.426T>A n.42T>A c.1308T>A (p.Pro436=) | |
| 1 | g.94021327G>A | CA341283068 | ABCA4 | c.4931C>T (p.Pro1644Leu) n.425C>T n.41C>T c.1307C>T (p.Pro436Leu) | gnomAD v4 |
| 1 | g.94021327G>C | CA341283069 | ABCA4 | c.4931C>G (p.Pro1644Arg) n.425C>G n.41C>G c.1307C>G (p.Pro436Arg) | |
| 1 | g.94021327G>T | CA341283070 | ABCA4 | c.4931C>A (p.Pro1644His) n.425C>A n.41C>A c.1307C>A (p.Pro436His) | |
| 1 | g.94021328G>A | CA341283071 | ABCA4 | c.4930C>T (p.Pro1644Ser) n.424C>T n.40C>T c.1306C>T (p.Pro436Ser) | |
| 1 | g.94021328G>C | CA341283072 | ABCA4 | c.4930C>G (p.Pro1644Ala) n.424C>G n.40C>G c.1306C>G (p.Pro436Ala) | |
| 1 | g.94021328G>T | CA341283073 | ABCA4 | c.4930C>A (p.Pro1644Thr) n.424C>A n.40C>A c.1306C>A (p.Pro436Thr) | |
| 1 | g.94021329C>A | CA418821716 | ABCA4 | c.4929G>T (p.Leu1643=) n.423G>T n.39G>T c.1305G>T (p.Leu435=) | |
| 1 | g.94021329C= | CA1143374339 | ABCA4 | c.4929G= (p.Leu1643=) n.423G= n.39G= c.1305G= (p.Leu435=) | |
| 1 | g.94021329C>G | CA957426 | ABCA4 | c.4929G>C (p.Leu1643=) n.423G>C n.39G>C c.1305G>C (p.Leu435=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021329C>T | CA418821717 | ABCA4 | c.4929G>A (p.Leu1643=) n.423G>A n.39G>A c.1305G>A (p.Leu435=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021330A>C | CA341283074 | ABCA4 | c.4928T>G (p.Leu1643Arg) n.422T>G n.38T>G c.1304T>G (p.Leu435Arg) | |
| 1 | g.94021330A>G | CA341283075 | ABCA4 | c.4928T>C (p.Leu1643Pro) n.422T>C n.38T>C c.1304T>C (p.Leu435Pro) | |
| 1 | g.94021330A>T | CA341283076 | ABCA4 | c.4928T>A (p.Leu1643Gln) n.422T>A n.38T>A c.1304T>A (p.Leu435Gln) | |
| 1 | g.94021330_94021334delinsAGGCT | CA1181408149 | ABCA4 | c.4924_4928delinsAGCCT (p.Ser1642=) n.418_422delinsAGCCT n.34_38delinsAGCCT c.1300_1304delinsAGCCT (p.Ser434=) | |
| 1 | g.94021331_94021342del | CA2646647818 | ABCA4 | c.4917_4928del (p.Arg1640_Leu1643del) n.411_422del n.27_38del c.1293_1304del (p.Arg432_Leu435del) | gnomAD v4 |
| 1 | g.94021331G>A | CA418821718 | ABCA4 | c.4927C>T (p.Leu1643=) n.421C>T n.37C>T c.1303C>T (p.Leu435=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021331G>C | CA957428 | ABCA4 | c.4927C>G (p.Leu1643Val) n.421C>G n.37C>G c.1303C>G (p.Leu435Val) | dbSNP ExAC gnomAD v2 |
| 1 | g.94021331G= | CA1181408152 | ABCA4 | c.4927C= (p.Leu1643=) n.421C= n.37C= c.1303C= (p.Leu435=) | |
| 1 | g.94021331G>T | CA341283077 | ABCA4 | c.4927C>A (p.Leu1643Met) n.421C>A n.37C>A c.1303C>A (p.Leu435Met) | |
| 1 | g.94021332del | CA2586964141 | ABCA4 | c.4927del (p.Leu1643CysfsTer19) n.421del n.37del c.1303del (p.Leu435CysfsTer19) | |
| 1 | g.94021334_94021337del | CA957427 | ABCA4 | c.4924_4927del (p.Ser1642CysfsTer19) n.418_421del n.34_37del c.1300_1303del (p.Ser434CysfsTer19) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021332G>A | CA418821719 | ABCA4 | c.4926C>T (p.Ser1642=) n.420C>T n.36C>T c.1302C>T (p.Ser434=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021332G>C | CA227255 | ABCA4 | c.4926C>G (p.Ser1642Arg) n.420C>G n.36C>G c.1302C>G (p.Ser434Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021332G= | CA1140725941 | ABCA4 | c.4926C= (p.Ser1642=) n.420C= n.36C= c.1302C= (p.Ser434=) | |
| 1 | g.94021332G>T | CA341283078 | ABCA4 | c.4926C>A (p.Ser1642Arg) n.420C>A n.36C>A c.1302C>A (p.Ser434Arg) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021333C>A | CA957429 | ABCA4 | c.4925G>T (p.Ser1642Ile) n.419G>T n.35G>T c.1301G>T (p.Ser434Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021333C= | CA1141407022 | ABCA4 | c.4925G= (p.Ser1642=) n.419G= n.35G= c.1301G= (p.Ser434=) | |
| 1 | g.94021333C>G | CA341283079 | ABCA4 | c.4925G>C (p.Ser1642Thr) n.419G>C n.35G>C c.1301G>C (p.Ser434Thr) | gnomAD v4 |
| 1 | g.94021333C>T | CA341283080 | ABCA4 | c.4925G>A (p.Ser1642Asn) n.419G>A n.35G>A c.1301G>A (p.Ser434Asn) | |
| 1 | g.94021334T>A | CA341283081 | ABCA4 | c.4924A>T (p.Ser1642Cys) n.418A>T n.34A>T c.1300A>T (p.Ser434Cys) | |
| 1 | g.94021334T>C | CA341283082 | ABCA4 | c.4924A>G (p.Ser1642Gly) n.418A>G n.34A>G c.1300A>G (p.Ser434Gly) | |
| 1 | g.94021334T>G | CA341283083 | ABCA4 | c.4924A>C (p.Ser1642Arg) n.418A>C n.34A>C c.1300A>C (p.Ser434Arg) | |
| 1 | g.94021335G>A | CA418821720 | ABCA4 | c.4923C>T (p.Ala1641=) n.417C>T n.33C>T c.1299C>T (p.Ala433=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021335G>C | CA418821721 | ABCA4 | c.4923C>G (p.Ala1641=) n.417C>G n.33C>G c.1299C>G (p.Ala433=) | |
| 1 | g.94021335G= | CA1181408158 | ABCA4 | c.4923C= (p.Ala1641=) n.417C= n.33C= c.1299C= (p.Ala433=) | |
| 1 | g.94021335G>T | CA418821722 | ABCA4 | c.4923C>A (p.Ala1641=) n.417C>A n.33C>A c.1299C>A (p.Ala433=) | |
| 1 | g.94021336G>A | CA341283084 | ABCA4 | c.4922C>T (p.Ala1641Val) n.416C>T n.32C>T c.1298C>T (p.Ala433Val) | |
| 1 | g.94021336G>C | CA341283085 | ABCA4 | c.4922C>G (p.Ala1641Gly) n.416C>G n.32C>G c.1298C>G (p.Ala433Gly) | |
| 1 | g.94021336G>T | CA341283086 | ABCA4 | c.4922C>A (p.Ala1641Asp) n.416C>A n.32C>A c.1298C>A (p.Ala433Asp) | |
| 1 | g.94021337C>A | CA341283089 | ABCA4 | c.4921G>T (p.Ala1641Ser) n.415G>T n.31G>T c.1297G>T (p.Ala433Ser) | |
| 1 | g.94021337C= | CA1181408160 | ABCA4 | c.4921G= (p.Ala1641=) n.415G= n.31G= c.1297G= (p.Ala433=) | |
| 1 | g.94021337C>G | CA341283087 | ABCA4 | c.4921G>C (p.Ala1641Pro) n.415G>C n.31G>C c.1297G>C (p.Ala433Pro) | |
| 1 | g.94021337C>T | CA341283088 | ABCA4 | c.4921G>A (p.Ala1641Thr) n.415G>A n.31G>A c.1297G>A (p.Ala433Thr) | ClinVar dbSNP |
| 1 | g.94021338C>A | CA418821725 | ABCA4 | c.4920G>T (p.Arg1640=) n.414G>T n.30G>T c.1296G>T (p.Arg432=) | |
| 1 | g.94021338C>G | CA418821724 | ABCA4 | c.4920G>C (p.Arg1640=) n.414G>C n.30G>C c.1296G>C (p.Arg432=) | |
| 1 | g.94021338C>T | CA418821723 | ABCA4 | c.4920G>A (p.Arg1640=) n.414G>A n.30G>A c.1296G>A (p.Arg432=) | |
| 1 | g.94021339C>A | CA341283090 | ABCA4 | c.4919G>T (p.Arg1640Leu) n.413G>T n.29G>T c.1295G>T (p.Arg432Leu) | |
| 1 | g.94021339C= | CA1140725944 | ABCA4 | c.4919G= (p.Arg1640=) n.413G= n.29G= c.1295G= (p.Arg432=) | |
| 1 | g.94021339C>G | CA341283091 | ABCA4 | c.4919G>C (p.Arg1640Pro) n.413G>C n.29G>C c.1295G>C (p.Arg432Pro) | |
| 1 | g.94021339C>T | CA227254 | ABCA4 | c.4919G>A (p.Arg1640Gln) n.413G>A n.29G>A c.1295G>A (p.Arg432Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.94021340del | CA2739272644 | ABCA4 | c.4918del (p.Arg1640GlyfsTer22) n.412del n.28del c.1294del (p.Arg432GlyfsTer22) | ClinVar |
| 1 | g.94021340G>A | CA227253 | ABCA4 | c.4918C>T (p.Arg1640Trp) n.412C>T n.28C>T c.1294C>T (p.Arg432Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021340G>C | CA341283092 | ABCA4 | c.4918C>G (p.Arg1640Gly) n.412C>G n.28C>G c.1294C>G (p.Arg432Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021340G= | CA1140725947 | ABCA4 | c.4918C= (p.Arg1640=) n.412C= n.28C= c.1294C= (p.Arg432=) | |
| 1 | g.94021340G>T | CA418821726 | ABCA4 | c.4918C>A (p.Arg1640=) n.412C>A n.28C>A c.1294C>A (p.Arg432=) | |
| 1 | g.94021341T>A | CA341283093 | ABCA4 | c.4917A>T (p.Leu1639Phe) n.411A>T n.27A>T c.1293A>T (p.Leu431Phe) | |
| 1 | g.94021341T>C | CA418821727 | ABCA4 | c.4917A>G (p.Leu1639=) n.411A>G n.27A>G c.1293A>G (p.Leu431=) | |
| 1 | g.94021341T>G | CA341283094 | ABCA4 | c.4917A>C (p.Leu1639Phe) n.411A>C n.27A>C c.1293A>C (p.Leu431Phe) | dbSNP gnomAD v2 |
| 1 | g.94021341T= | CA1181408172 | ABCA4 | c.4917A= (p.Leu1639=) n.411A= n.27A= c.1293A= (p.Leu431=) | |
| 1 | g.94021342A>C | CA341283095 | ABCA4 | c.4916T>G (p.Leu1639Ter) n.410T>G n.26T>G c.1292T>G (p.Leu431Ter) | |
| 1 | g.94021342A>G | CA341283096 | ABCA4 | c.4916T>C (p.Leu1639Ser) n.410T>C n.26T>C c.1292T>C (p.Leu431Ser) | |
| 1 | g.94021342A>T | CA341283097 | ABCA4 | c.4916T>A (p.Leu1639Ter) n.410T>A n.26T>A c.1292T>A (p.Leu431Ter) | |
| 1 | g.94021343A>C | CA341283098 | ABCA4 | c.4915T>G (p.Leu1639Val) n.409T>G n.25T>G c.1291T>G (p.Leu431Val) | |
| 1 | g.94021343A>G | CA418821728 | ABCA4 | c.4915T>C (p.Leu1639=) n.409T>C n.25T>C c.1291T>C (p.Leu431=) | |
| 1 | g.94021343A>T | CA341283099 | ABCA4 | c.4915T>A (p.Leu1639Ile) n.409T>A n.25T>A c.1291T>A (p.Leu431Ile) | |
| 1 | g.94021344G>A | CA418821729 | ABCA4 | c.4914C>T (p.Ile1638=) n.408C>T n.24C>T c.1290C>T (p.Ile430=) | gnomAD v4 |
| 1 | g.94021344G>C | CA341283100 | ABCA4 | c.4914C>G (p.Ile1638Met) n.408C>G n.24C>G c.1290C>G (p.Ile430Met) | |
| 1 | g.94021344G= | CA1181408175 | ABCA4 | c.4914C= (p.Ile1638=) n.408C= n.24C= c.1290C= (p.Ile430=) | |
| 1 | g.94021344G>T | CA957430 | ABCA4 | c.4914C>A (p.Ile1638=) n.408C>A n.24C>A c.1290C>A (p.Ile430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021345A>C | CA341283101 | ABCA4 | c.4913T>G (p.Ile1638Ser) n.407T>G n.23T>G c.1289T>G (p.Ile430Ser) | |
| 1 | g.94021345A>G | CA341283102 | ABCA4 | c.4913T>C (p.Ile1638Thr) n.407T>C n.23T>C c.1289T>C (p.Ile430Thr) | ClinVar |
| 1 | g.94021345A>T | CA341283103 | ABCA4 | c.4913T>A (p.Ile1638Asn) n.407T>A n.23T>A c.1289T>A (p.Ile430Asn) | |
| 1 | g.94021346T>A | CA341283104 | ABCA4 | c.4912A>T (p.Ile1638Phe) n.406A>T n.22A>T c.1288A>T (p.Ile430Phe) | |
| 1 | g.94021346T>C | CA341283106 | ABCA4 | c.4912A>G (p.Ile1638Val) n.406A>G n.22A>G c.1288A>G (p.Ile430Val) | gnomAD v4 |
| 1 | g.94021346T>G | CA341283105 | ABCA4 | c.4912A>C (p.Ile1638Leu) n.406A>C n.22A>C c.1288A>C (p.Ile430Leu) | |
| 1 | g.94021347G>A | CA957431 | ABCA4 | c.4911C>T (p.Ala1637=) n.405C>T n.21C>T c.1287C>T (p.Ala429=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021347G>C | CA418821730 | ABCA4 | c.4911C>G (p.Ala1637=) n.405C>G n.21C>G c.1287C>G (p.Ala429=) | |
| 1 | g.94021347G= | CA1143476506 | ABCA4 | c.4911C= (p.Ala1637=) n.405C= n.21C= c.1287C= (p.Ala429=) | |
| 1 | g.94021347G>T | CA418821731 | ABCA4 | c.4911C>A (p.Ala1637=) n.405C>A n.21C>A c.1287C>A (p.Ala429=) | |
| 1 | g.94021348del | CA2574438545 | ABCA4 | c.4911del (p.Ile1638SerfsTer24) n.405del n.21del c.1287del (p.Ile430SerfsTer24) | |
| 1 | g.94021348G>A | CA341283107 | ABCA4 | c.4910C>T (p.Ala1637Val) n.404C>T n.20C>T c.1286C>T (p.Ala429Val) | |
| 1 | g.94021348G>C | CA341283108 | ABCA4 | c.4910C>G (p.Ala1637Gly) n.404C>G n.20C>G c.1286C>G (p.Ala429Gly) | |
| 1 | g.94021348G>T | CA341283109 | ABCA4 | c.4910C>A (p.Ala1637Asp) n.404C>A n.20C>A c.1286C>A (p.Ala429Asp) | |
| 1 | g.94021349C>A | CA341283110 | ABCA4 | c.4909G>T (p.Ala1637Ser) n.403G>T n.19G>T c.1285G>T (p.Ala429Ser) | ClinVar gnomAD v4 |
| 1 | g.94021349C= | CA1140725953 | ABCA4 | c.4909G= (p.Ala1637=) n.403G= n.19G= c.1285G= (p.Ala429=) | |
| 1 | g.94021349C>G | CA341283111 | ABCA4 | c.4909G>C (p.Ala1637Pro) n.403G>C n.19G>C c.1285G>C (p.Ala429Pro) | |
| 1 | g.94021349C>T | CA227251 | ABCA4 | c.4909G>A (p.Ala1637Thr) n.403G>A n.19G>A c.1285G>A (p.Ala429Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021350G>A | CA957432 | ABCA4 | c.4908C>T (p.Asn1636=) n.402C>T n.18C>T c.1284C>T (p.Asn428=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021350G>C | CA341283112 | ABCA4 | c.4908C>G (p.Asn1636Lys) n.402C>G n.18C>G c.1284C>G (p.Asn428Lys) | |
| 1 | g.94021350G= | CA1181408182 | ABCA4 | c.4908C= (p.Asn1636=) n.402C= n.18C= c.1284C= (p.Asn428=) | |
| 1 | g.94021350G>T | CA341283113 | ABCA4 | c.4908C>A (p.Asn1636Lys) n.402C>A n.18C>A c.1284C>A (p.Asn428Lys) | COSMIC |
| 1 | g.94021351T>A | CA341283115 | ABCA4 | c.4907A>T (p.Asn1636Ile) n.401A>T n.17A>T c.1283A>T (p.Asn428Ile) | |
| 1 | g.94021351T>C | CA341283116 | ABCA4 | c.4907A>G (p.Asn1636Ser) n.401A>G n.17A>G c.1283A>G (p.Asn428Ser) | ClinVar gnomAD v4 |
| 1 | g.94021351T>G | CA341283114 | ABCA4 | c.4907A>C (p.Asn1636Thr) n.401A>C n.17A>C c.1283A>C (p.Asn428Thr) | |
| 1 | g.94021352del | CA2646647831 | ABCA4 | c.4907del (p.Asn1636ThrfsTer26) n.401del n.17del c.1283del (p.Asn428ThrfsTer26) | gnomAD v4 |
| 1 | g.94021352T>A | CA341283117 | ABCA4 | c.4906A>T (p.Asn1636Tyr) n.400A>T n.16A>T c.1282A>T (p.Asn428Tyr) | |
| 1 | g.94021352T>C | CA341283118 | ABCA4 | c.4906A>G (p.Asn1636Asp) n.400A>G n.16A>G c.1282A>G (p.Asn428Asp) | |
| 1 | g.94021352T>G | CA341283119 | ABCA4 | c.4906A>C (p.Asn1636His) n.400A>C n.16A>C c.1282A>C (p.Asn428His) | |
| 1 | g.94021352_94021361del | CA2586964143 | ABCA4 | c.4897_4906del (p.Val1633ThrfsTer26) n.391_400del n.7_16del c.1273_1282del (p.Val425ThrfsTer26) | |
| 1 | g.94021353G>A | CA418821732 | ABCA4 | c.4905C>T (p.His1635=) n.399C>T n.15C>T c.1281C>T (p.His427=) | ClinVar gnomAD v4 |
| 1 | g.94021353G>C | CA341283120 | ABCA4 | c.4905C>G (p.His1635Gln) n.399C>G n.15C>G c.1281C>G (p.His427Gln) | |
| 1 | g.94021353G= | CA1181408183 | ABCA4 | c.4905C= (p.His1635=) n.399C= n.15C= c.1281C= (p.His427=) | |
| 1 | g.94021353G>T | CA341283121 | ABCA4 | c.4905C>A (p.His1635Gln) n.399C>A n.15C>A c.1281C>A (p.His427Gln) | dbSNP COSMIC |
| 1 | g.94021354T>A | CA341283122 | ABCA4 | c.4904A>T (p.His1635Leu) n.398A>T n.14A>T c.1280A>T (p.His427Leu) | |
| 1 | g.94021354T>C | CA341283123 | ABCA4 | c.4904A>G (p.His1635Arg) n.398A>G n.14A>G c.1280A>G (p.His427Arg) | |
| 1 | g.94021354T>G | CA341283124 | ABCA4 | c.4904A>C (p.His1635Pro) n.398A>C n.14A>C c.1280A>C (p.His427Pro) | |
| 1 | g.94021355G>A | CA341283125 | ABCA4 | c.4903C>T (p.His1635Tyr) n.397C>T n.13C>T c.1279C>T (p.His427Tyr) | |
| 1 | g.94021355G>C | CA341283126 | ABCA4 | c.4903C>G (p.His1635Asp) n.397C>G n.13C>G c.1279C>G (p.His427Asp) | |
| 1 | g.94021355G>T | CA341283127 | ABCA4 | c.4903C>A (p.His1635Asn) n.397C>A n.13C>A c.1279C>A (p.His427Asn) | |
| 1 | g.94021356G>A | CA418821733 | ABCA4 | c.4902C>T (p.Ala1634=) n.396C>T n.12C>T c.1278C>T (p.Ala426=) | |
| 1 | g.94021356G>C | CA418821734 | ABCA4 | c.4902C>G (p.Ala1634=) n.396C>G n.12C>G c.1278C>G (p.Ala426=) | |
| 1 | g.94021356G>T | CA418821735 | ABCA4 | c.4902C>A (p.Ala1634=) n.396C>A n.12C>A c.1278C>A (p.Ala426=) | |
| 1 | g.94021357G>A | CA341283129 | ABCA4 | c.4901C>T (p.Ala1634Val) n.395C>T n.11C>T c.1277C>T (p.Ala426Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021357G>C | CA341283130 | ABCA4 | c.4901C>G (p.Ala1634Gly) n.395C>G n.11C>G c.1277C>G (p.Ala426Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021357G= | CA1181408184 | ABCA4 | c.4901C= (p.Ala1634=) n.395C= n.11C= c.1277C= (p.Ala426=) | |
| 1 | g.94021357G>T | CA341283128 | ABCA4 | c.4901C>A (p.Ala1634Asp) n.395C>A n.11C>A c.1277C>A (p.Ala426Asp) | |
| 1 | g.94021358C>A | CA341283131 | ABCA4 | c.4900G>T (p.Ala1634Ser) n.394G>T n.10G>T c.1276G>T (p.Ala426Ser) | ClinVar dbSNP |
| 1 | g.94021358C= | CA1181408192 | ABCA4 | c.4900G= (p.Ala1634=) n.394G= n.10G= c.1276G= (p.Ala426=) | |
| 1 | g.94021358C>G | CA341283132 | ABCA4 | c.4900G>C (p.Ala1634Pro) n.394G>C n.10G>C c.1276G>C (p.Ala426Pro) | |
| 1 | g.94021358C>T | CA341283133 | ABCA4 | c.4900G>A (p.Ala1634Thr) n.394G>A n.10G>A c.1276G>A (p.Ala426Thr) | ClinVar dbSNP |
| 1 | g.94021359C>A | CA418821738 | ABCA4 | c.4899G>T (p.Val1633=) n.393G>T n.9G>T c.1275G>T (p.Val425=) | |
| 1 | g.94021359C= | CA1181408200 | ABCA4 | c.4899G= (p.Val1633=) n.393G= n.9G= c.1275G= (p.Val425=) | |
| 1 | g.94021359C>G | CA418821737 | ABCA4 | c.4899G>C (p.Val1633=) n.393G>C n.9G>C c.1275G>C (p.Val425=) | |
| 1 | g.94021359C>T | CA418821736 | ABCA4 | c.4899G>A (p.Val1633=) n.393G>A n.9G>A c.1275G>A (p.Val425=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.94021360A>C | CA341283134 | ABCA4 | c.4898T>G (p.Val1633Gly) n.392T>G n.8T>G c.1274T>G (p.Val425Gly) | |
| 1 | g.94021360A>G | CA341283135 | ABCA4 | c.4898T>C (p.Val1633Ala) n.392T>C n.8T>C c.1274T>C (p.Val425Ala) | |
| 1 | g.94021360A>T | CA341283136 | ABCA4 | c.4898T>A (p.Val1633Glu) n.392T>A n.8T>A c.1274T>A (p.Val425Glu) | |
| 1 | g.94021361_94021369dup | CA916079779 | ABCA4 | c.4890_4898dup (p.Val1633_Ala1634insLeuAsnVal) n.384_392dup c.1266_1274dup (p.Val425_Ala426insLeuAsnVal) | |
| 1 | g.94021361C>A | CA341283137 | ABCA4 | c.4897G>T (p.Val1633Leu) n.391G>T n.7G>T c.1273G>T (p.Val425Leu) | |
| 1 | g.94021361C>G | CA341283139 | ABCA4 | c.4897G>C (p.Val1633Leu) n.391G>C n.7G>C c.1273G>C (p.Val425Leu) | |
| 1 | g.94021361C>T | CA341283138 | ABCA4 | c.4897G>A (p.Val1633Met) n.391G>A n.7G>A c.1273G>A (p.Val425Met) | ClinVar gnomAD v4 |
| 1 | g.94021362A= | CA1181408206 | ABCA4 | c.4896T= (p.Asn1632=) n.390T= n.6T= c.1272T= (p.Asn424=) | |
| 1 | g.94021362A>C | CA341283140 | ABCA4 | c.4896T>G (p.Asn1632Lys) n.390T>G n.6T>G c.1272T>G (p.Asn424Lys) | |
| 1 | g.94021362A>G | CA418821739 | ABCA4 | c.4896T>C (p.Asn1632=) n.390T>C n.6T>C c.1272T>C (p.Asn424=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.94021362A>T | CA341283141 | ABCA4 | c.4896T>A (p.Asn1632Lys) n.390T>A n.6T>A c.1272T>A (p.Asn424Lys) | gnomAD v4 |
| 1 | g.94021363T>A | CA341283142 | ABCA4 | c.4895A>T (p.Asn1632Ile) n.389A>T n.5A>T c.1271A>T (p.Asn424Ile) | |
| 1 | g.94021363T>C | CA957433 | ABCA4 | c.4895A>G (p.Asn1632Ser) n.389A>G n.5A>G c.1271A>G (p.Asn424Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021363T>G | CA341283143 | ABCA4 | c.4895A>C (p.Asn1632Thr) n.389A>C n.5A>C c.1271A>C (p.Asn424Thr) | |
| 1 | g.94021363T= | CA1148233495 | ABCA4 | c.4895A= (p.Asn1632=) n.389A= n.5A= c.1271A= (p.Asn424=) | |
| 1 | g.94021364dup | CA915941330 | ABCA4 | c.4895dup (p.Asn1632LysfsTer14) n.389dup n.5dup c.1271dup (p.Asn424LysfsTer14) | ClinVar dbSNP |
| 1 | g.94021364del | CA2573132688 | ABCA4 | c.4895del (p.Asn1632MetfsTer30) n.389del n.5del c.1271del (p.Asn424MetfsTer30) | ClinVar dbSNP |
| 1 | g.94021364T>A | CA341283146 | ABCA4 | c.4894A>T (p.Asn1632Tyr) n.388A>T n.4A>T c.1270A>T (p.Asn424Tyr) | |
| 1 | g.94021364T>C | CA341283145 | ABCA4 | c.4894A>G (p.Asn1632Asp) n.388A>G n.4A>G c.1270A>G (p.Asn424Asp) | |
| 1 | g.94021364T>G | CA341283144 | ABCA4 | c.4894A>C (p.Asn1632His) n.388A>C n.4A>C c.1270A>C (p.Asn424His) | |
| 1 | g.94021365G>A | CA418821740 | ABCA4 | c.4893C>T (p.Leu1631=) n.387C>T n.3C>T c.1269C>T (p.Leu423=) | |
| 1 | g.94021365G>C | CA418821741 | ABCA4 | c.4893C>G (p.Leu1631=) n.387C>G n.3C>G c.1269C>G (p.Leu423=) | |
| 1 | g.94021365G>T | CA418821742 | ABCA4 | c.4893C>A (p.Leu1631=) n.387C>A n.3C>A c.1269C>A (p.Leu423=) | |
| 1 | g.94021366A= | CA1140725956 | ABCA4 | c.4892T= (p.Leu1631=) n.386T= n.2T= c.1268T= (p.Leu423=) | |
| 1 | g.94021366A>C | CA341283148 | ABCA4 | c.4892T>G (p.Leu1631Arg) n.386T>G n.2T>G c.1268T>G (p.Leu423Arg) | |
| 1 | g.94021366A>G | CA227250 | ABCA4 | c.4892T>C (p.Leu1631Pro) n.386T>C n.2T>C c.1268T>C (p.Leu423Pro) | ClinVar dbSNP |
| 1 | g.94021366A>T | CA341283147 | ABCA4 | c.4892T>A (p.Leu1631His) n.386T>A n.2T>A c.1268T>A (p.Leu423His) | |
| 1 | g.94021367G>A | CA341283149 | ABCA4 | c.4891C>T (p.Leu1631Phe) n.385C>T n.1C>T c.1267C>T (p.Leu423Phe) | |
| 1 | g.94021367G>C | CA341283150 | ABCA4 | c.4891C>G (p.Leu1631Val) n.385C>G n.1C>G c.1267C>G (p.Leu423Val) | gnomAD v4 |
| 1 | g.94021367G>T | CA341283151 | ABCA4 | c.4891C>A (p.Leu1631Ile) n.385C>A n.1C>A c.1267C>A (p.Leu423Ile) | |
| 1 | g.94021368A>C | CA341283152 | ABCA4 | c.4890T>G (p.Phe1630Leu) n.384T>G c.1266T>G (p.Phe422Leu) | |
| 1 | g.94021368A>G | CA418821743 | ABCA4 | c.4890T>C (p.Phe1630=) n.384T>C c.1266T>C (p.Phe422=) | |
| 1 | g.94021368A>T | CA341283153 | ABCA4 | c.4890T>A (p.Phe1630Leu) n.384T>A c.1266T>A (p.Phe422Leu) | |
| 1 | g.94021369A= | CA1181408219 | ABCA4 | c.4889T= (p.Phe1630=) n.383T= c.1265T= (p.Phe422=) | |
| 1 | g.94021369A>C | CA341283154 | ABCA4 | c.4889T>G (p.Phe1630Cys) n.383T>G c.1265T>G (p.Phe422Cys) | |
| 1 | g.94021369A>G | CA341283155 | ABCA4 | c.4889T>C (p.Phe1630Ser) n.383T>C c.1265T>C (p.Phe422Ser) | ClinVar dbSNP |
| 1 | g.94021369A>T | CA341283156 | ABCA4 | c.4889T>A (p.Phe1630Tyr) n.383T>A c.1265T>A (p.Phe422Tyr) | |
| 1 | g.94021370A>C | CA341283157 | ABCA4 | c.4888T>G (p.Phe1630Val) n.382T>G c.1264T>G (p.Phe422Val) | |
| 1 | g.94021370A>G | CA341283158 | ABCA4 | c.4888T>C (p.Phe1630Leu) n.382T>C c.1264T>C (p.Phe422Leu) | |
| 1 | g.94021370A>T | CA341283159 | ABCA4 | c.4888T>A (p.Phe1630Ile) n.382T>A c.1264T>A (p.Phe422Ile) | |
| 1 | g.94021371G>A | CA418821744 | ABCA4 | c.4887C>T (p.Ser1629=) n.381C>T c.1263C>T (p.Ser421=) | |
| 1 | g.94021371G>C | CA341283161 | ABCA4 | c.4887C>G (p.Ser1629Arg) n.381C>G c.1263C>G (p.Ser421Arg) | dbSNP gnomAD v2 |
| 1 | g.94021371G= | CA1181408222 | ABCA4 | c.4887C= (p.Ser1629=) n.381C= c.1263C= (p.Ser421=) | |
| 1 | g.94021371G>T | CA341283160 | ABCA4 | c.4887C>A (p.Ser1629Arg) n.381C>A c.1263C>A (p.Ser421Arg) | gnomAD v4 |
| 1 | g.94021372C>A | CA341283162 | ABCA4 | c.4886G>T (p.Ser1629Ile) n.380G>T c.1262G>T (p.Ser421Ile) | |
| 1 | g.94021372C>G | CA341283163 | ABCA4 | c.4886G>C (p.Ser1629Thr) n.380G>C c.1262G>C (p.Ser421Thr) | |
| 1 | g.94021372C>T | CA341283164 | ABCA4 | c.4886G>A (p.Ser1629Asn) n.380G>A c.1262G>A (p.Ser421Asn) | |
| 1 | g.94021373T>A | CA341283165 | ABCA4 | c.4885A>T (p.Ser1629Cys) n.379A>T c.1261A>T (p.Ser421Cys) | |
| 1 | g.94021373T>C | CA341283166 | ABCA4 | c.4885A>G (p.Ser1629Gly) n.379A>G c.1261A>G (p.Ser421Gly) | dbSNP gnomAD v4 |
| 1 | g.94021373T>G | CA341283167 | ABCA4 | c.4885A>C (p.Ser1629Arg) n.379A>C c.1261A>C (p.Ser421Arg) | |
| 1 | g.94021373T= | CA1181408224 | ABCA4 | c.4885A= (p.Ser1629=) n.379A= c.1261A= (p.Ser421=) | |
| 1 | g.94021374G>A | CA418821745 | ABCA4 | c.4884C>T (p.Val1628=) n.378C>T c.1260C>T (p.Val420=) | |
| 1 | g.94021374G>C | CA418821746 | ABCA4 | c.4884C>G (p.Val1628=) n.378C>G c.1260C>G (p.Val420=) | |
| 1 | g.94021374G>T | CA418821747 | ABCA4 | c.4884C>A (p.Val1628=) n.378C>A c.1260C>A (p.Val420=) | gnomAD v4 |
| 1 | g.94021375A= | CA1181408227 | ABCA4 | c.4883T= (p.Val1628=) n.377T= c.1259T= (p.Val420=) | |
| 1 | g.94021375A>C | CA341283168 | ABCA4 | c.4883T>G (p.Val1628Gly) n.377T>G c.1259T>G (p.Val420Gly) | |
| 1 | g.94021375A>G | CA341283169 | ABCA4 | c.4883T>C (p.Val1628Ala) n.377T>C c.1259T>C (p.Val420Ala) | dbSNP gnomAD v4 |
| 1 | g.94021375A>T | CA341283170 | ABCA4 | c.4883T>A (p.Val1628Asp) n.377T>A c.1259T>A (p.Val420Asp) | |
| 1 | g.94021376C>A | CA341283171 | ABCA4 | c.4882G>T (p.Val1628Phe) n.376G>T c.1258G>T (p.Val420Phe) | |
| 1 | g.94021376C>G | CA341283172 | ABCA4 | c.4882G>C (p.Val1628Leu) n.376G>C c.1258G>C (p.Val420Leu) | |
| 1 | g.94021376C>T | CA341283173 | ABCA4 | c.4882G>A (p.Val1628Ile) n.376G>A c.1258G>A (p.Val420Ile) | gnomAD v4 |
| 1 | g.94021377dup | CA2646647345 | ABCA4 | c.4882dup (p.Val1628GlyfsTer18) n.376dup c.1258dup (p.Val420GlyfsTer18) | gnomAD v4 |
| 1 | g.94021377C>A | CA418821748 | ABCA4 | c.4881G>T (p.Leu1627=) n.375G>T c.1257G>T (p.Leu419=) | |
| 1 | g.94021377C= | CA1181408230 | ABCA4 | c.4881G= (p.Leu1627=) n.375G= c.1257G= (p.Leu419=) | |
| 1 | g.94021377C>G | CA418821749 | ABCA4 | c.4881G>C (p.Leu1627=) n.375G>C c.1257G>C (p.Leu419=) | dbSNP gnomAD v4 |
| 1 | g.94021377C>T | CA418821750 | ABCA4 | c.4881G>A (p.Leu1627=) n.375G>A c.1257G>A (p.Leu419=) | gnomAD v4 |
| 1 | g.94021377_94021378delinsCA | CA1181408229 | ABCA4 | c.4880_4881delinsTG (p.Leu1627=) n.374_375delinsTG c.1256_1257delinsTG (p.Leu419=) | |
| 1 | g.94021378del | CA957434 | ABCA4 | c.4880del (p.Leu1627ArgfsTer?) n.374del c.1256del (p.Leu419ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.94021378A>C | CA341283175 | ABCA4 | c.4880T>G (p.Leu1627Arg) n.374T>G c.1256T>G (p.Leu419Arg) | |
| 1 | g.94021378A>G | CA341283176 | ABCA4 | c.4880T>C (p.Leu1627Pro) n.374T>C c.1256T>C (p.Leu419Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.94021378A>T | CA341283174 | ABCA4 | c.4880T>A (p.Leu1627Gln) n.374T>A c.1256T>A (p.Leu419Gln) |