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