Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) |