Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.77988883T>C | CA2439093160 | ATP7A,PGK1 | c.640+152T>C (n.640+152T>C) n.772+152T>C n.924T>C c.610+152T>C (n.610+152T>C) n.728+152T>C c.646+152T>C (n.646+152T>C) n.964+152T>C n.750+152T>C n.921+152T>C n.880T>C n.1065T>C n.711+152T>C n.762+152T>C c.*524+152T>C (n.*524+152T>C) n.919+152T>C n.901+152T>C c.*539+152T>C (n.*539+152T>C) c.-20+78048T>C (n.-20+78048T>C) n.321+17122T>C n.284+17122T>C | dbSNP gnomAD v4 |
X | g.77988883T= | CA2439093159 | ATP7A,PGK1 | c.640+152T= (n.640+152T=) n.772+152T= n.924T= c.610+152T= (n.610+152T=) n.728+152T= c.646+152T= (n.646+152T=) n.964+152T= n.750+152T= n.921+152T= n.880T= n.1065T= n.711+152T= n.762+152T= c.*524+152T= (n.*524+152T=) n.919+152T= n.901+152T= c.*539+152T= (n.*539+152T=) c.-20+78048T= (n.-20+78048T=) n.321+17122T= n.284+17122T= | |
X | g.77988900A= | CA2439093161 | ATP7A,PGK1 | c.640+169A= (n.640+169A=) n.772+169A= n.941A= c.610+169A= (n.610+169A=) n.728+169A= c.646+169A= (n.646+169A=) n.964+169A= n.750+169A= n.921+169A= n.897A= n.1082A= n.711+169A= n.762+169A= c.*524+169A= (n.*524+169A=) n.919+169A= n.901+169A= c.*539+169A= (n.*539+169A=) c.-20+78065A= (n.-20+78065A=) n.321+17139A= n.284+17139A= | |
X | g.77988900A>T | CA331103119 | ATP7A,PGK1 | c.640+169A>T (n.640+169A>T) n.772+169A>T n.941A>T c.610+169A>T (n.610+169A>T) n.728+169A>T c.646+169A>T (n.646+169A>T) n.964+169A>T n.750+169A>T n.921+169A>T n.897A>T n.1082A>T n.711+169A>T n.762+169A>T c.*524+169A>T (n.*524+169A>T) n.919+169A>T n.901+169A>T c.*539+169A>T (n.*539+169A>T) c.-20+78065A>T (n.-20+78065A>T) n.321+17139A>T n.284+17139A>T | dbSNP |
X | g.77988902G= | CA2439093162 | ATP7A,PGK1 | c.640+171G= (n.640+171G=) n.772+171G= n.943G= c.610+171G= (n.610+171G=) n.728+171G= c.646+171G= (n.646+171G=) n.964+171G= n.750+171G= n.921+171G= n.899G= n.1084G= n.711+171G= n.762+171G= c.*524+171G= (n.*524+171G=) n.919+171G= n.901+171G= c.*539+171G= (n.*539+171G=) c.-20+78067G= (n.-20+78067G=) n.321+17141G= n.284+17141G= | |
X | g.77988902G>T | CA2439093163 | ATP7A,PGK1 | c.640+171G>T (n.640+171G>T) n.772+171G>T n.943G>T c.610+171G>T (n.610+171G>T) n.728+171G>T c.646+171G>T (n.646+171G>T) n.964+171G>T n.750+171G>T n.921+171G>T n.899G>T n.1084G>T n.711+171G>T n.762+171G>T c.*524+171G>T (n.*524+171G>T) n.919+171G>T n.901+171G>T c.*539+171G>T (n.*539+171G>T) c.-20+78067G>T (n.-20+78067G>T) n.321+17141G>T n.284+17141G>T | dbSNP |
X | g.77988907A= | CA2439093164 | ATP7A,PGK1 | c.640+176A= (n.640+176A=) n.772+176A= n.948A= c.610+176A= (n.610+176A=) n.728+176A= c.646+176A= (n.646+176A=) n.964+176A= n.750+176A= n.921+176A= n.904A= n.1089A= n.711+176A= n.762+176A= c.*524+176A= (n.*524+176A=) n.919+176A= n.901+176A= c.*539+176A= (n.*539+176A=) c.-20+78072A= (n.-20+78072A=) n.321+17146A= n.284+17146A= | |
X | g.77988907A>G | CA331103127 | ATP7A,PGK1 | c.640+176A>G (n.640+176A>G) n.772+176A>G n.948A>G c.610+176A>G (n.610+176A>G) n.728+176A>G c.646+176A>G (n.646+176A>G) n.964+176A>G n.750+176A>G n.921+176A>G n.904A>G n.1089A>G n.711+176A>G n.762+176A>G c.*524+176A>G (n.*524+176A>G) n.919+176A>G n.901+176A>G c.*539+176A>G (n.*539+176A>G) c.-20+78072A>G (n.-20+78072A>G) n.321+17146A>G n.284+17146A>G | dbSNP |
X | g.77988915T>C | CA331103128 | ATP7A,PGK1 | c.640+184T>C (n.640+184T>C) n.772+184T>C n.956T>C c.610+184T>C (n.610+184T>C) n.728+184T>C c.646+184T>C (n.646+184T>C) n.964+184T>C n.750+184T>C n.921+184T>C n.912T>C n.1097T>C n.711+184T>C n.762+184T>C c.*524+184T>C (n.*524+184T>C) n.919+184T>C n.901+184T>C c.*539+184T>C (n.*539+184T>C) c.-20+78080T>C (n.-20+78080T>C) n.321+17154T>C n.284+17154T>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.77988915T= | CA2439093165 | ATP7A,PGK1 | c.640+184T= (n.640+184T=) n.772+184T= n.956T= c.610+184T= (n.610+184T=) n.728+184T= c.646+184T= (n.646+184T=) n.964+184T= n.750+184T= n.921+184T= n.912T= n.1097T= n.711+184T= n.762+184T= c.*524+184T= (n.*524+184T=) n.919+184T= n.901+184T= c.*539+184T= (n.*539+184T=) c.-20+78080T= (n.-20+78080T=) n.321+17154T= n.284+17154T= | |
X | g.77988918A= | CA2439093166 | ATP7A,PGK1 | c.640+187A= (n.640+187A=) n.772+187A= n.959A= c.610+187A= (n.610+187A=) n.728+187A= c.646+187A= (n.646+187A=) n.964+187A= n.750+187A= n.921+187A= n.915A= n.1100A= n.711+187A= n.762+187A= c.*524+187A= (n.*524+187A=) n.919+187A= n.901+187A= c.*539+187A= (n.*539+187A=) c.-20+78083A= (n.-20+78083A=) n.321+17157A= n.284+17157A= | |
X | g.77988918A>G | CA642488834 | ATP7A,PGK1 | c.640+187A>G (n.640+187A>G) n.772+187A>G n.959A>G c.610+187A>G (n.610+187A>G) n.728+187A>G c.646+187A>G (n.646+187A>G) n.964+187A>G n.750+187A>G n.921+187A>G n.915A>G n.1100A>G n.711+187A>G n.762+187A>G c.*524+187A>G (n.*524+187A>G) n.919+187A>G n.901+187A>G c.*539+187A>G (n.*539+187A>G) c.-20+78083A>G (n.-20+78083A>G) n.321+17157A>G n.284+17157A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77988933G>C | CA1134505807 | ATP7A,PGK1 | c.640+202G>C (n.640+202G>C) n.772+202G>C n.974G>C c.610+202G>C (n.610+202G>C) n.728+202G>C c.646+202G>C (n.646+202G>C) n.964+202G>C n.750+202G>C n.921+202G>C n.930G>C n.1115G>C n.711+202G>C n.762+202G>C c.*524+202G>C (n.*524+202G>C) n.919+202G>C n.901+202G>C c.*539+202G>C (n.*539+202G>C) c.-20+78098G>C (n.-20+78098G>C) n.321+17172G>C n.284+17172G>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.77988933G= | CA2439093167 | ATP7A,PGK1 | c.640+202G= (n.640+202G=) n.772+202G= n.974G= c.610+202G= (n.610+202G=) n.728+202G= c.646+202G= (n.646+202G=) n.964+202G= n.750+202G= n.921+202G= n.930G= n.1115G= n.711+202G= n.762+202G= c.*524+202G= (n.*524+202G=) n.919+202G= n.901+202G= c.*539+202G= (n.*539+202G=) c.-20+78098G= (n.-20+78098G=) n.321+17172G= n.284+17172G= | |
X | g.77988937G>C | CA1134505808 | ATP7A,PGK1 | c.640+206G>C (n.640+206G>C) n.772+206G>C n.978G>C c.610+206G>C (n.610+206G>C) n.728+206G>C c.646+206G>C (n.646+206G>C) n.964+206G>C n.750+206G>C n.921+206G>C n.934G>C n.1119G>C n.711+206G>C n.762+206G>C c.*524+206G>C (n.*524+206G>C) n.919+206G>C n.901+206G>C c.*539+206G>C (n.*539+206G>C) c.-20+78102G>C (n.-20+78102G>C) n.321+17176G>C n.284+17176G>C | dbSNP gnomAD v3 gnomAD v4 |
X | g.77988937G= | CA2439093168 | ATP7A,PGK1 | c.640+206G= (n.640+206G=) n.772+206G= n.978G= c.610+206G= (n.610+206G=) n.728+206G= c.646+206G= (n.646+206G=) n.964+206G= n.750+206G= n.921+206G= n.934G= n.1119G= n.711+206G= n.762+206G= c.*524+206G= (n.*524+206G=) n.919+206G= n.901+206G= c.*539+206G= (n.*539+206G=) c.-20+78102G= (n.-20+78102G=) n.321+17176G= n.284+17176G= | |
X | g.77988946T>A | CA878418216 | ATP7A,PGK1 | c.640+215T>A (n.640+215T>A) n.772+215T>A n.987T>A c.610+215T>A (n.610+215T>A) n.728+215T>A c.646+215T>A (n.646+215T>A) n.964+215T>A n.750+215T>A n.921+215T>A n.943T>A n.1128T>A n.711+215T>A n.762+215T>A c.*524+215T>A (n.*524+215T>A) n.919+215T>A n.901+215T>A c.*539+215T>A (n.*539+215T>A) c.-20+78111T>A (n.-20+78111T>A) n.321+17185T>A n.284+17185T>A | dbSNP gnomAD v3 gnomAD v4 |
X | g.77988946T= | CA2439093169 | ATP7A,PGK1 | c.640+215T= (n.640+215T=) n.772+215T= n.987T= c.610+215T= (n.610+215T=) n.728+215T= c.646+215T= (n.646+215T=) n.964+215T= n.750+215T= n.921+215T= n.943T= n.1128T= n.711+215T= n.762+215T= c.*524+215T= (n.*524+215T=) n.919+215T= n.901+215T= c.*539+215T= (n.*539+215T=) c.-20+78111T= (n.-20+78111T=) n.321+17185T= n.284+17185T= | |
X | g.77988949A= | CA2439093170 | ATP7A,PGK1 | c.640+218A= (n.640+218A=) n.772+218A= n.990A= c.610+218A= (n.610+218A=) n.728+218A= c.646+218A= (n.646+218A=) n.964+218A= n.750+218A= n.921+218A= n.946A= n.1131A= n.711+218A= n.762+218A= c.*524+218A= (n.*524+218A=) n.919+218A= n.901+218A= c.*539+218A= (n.*539+218A=) c.-20+78114A= (n.-20+78114A=) n.321+17188A= n.284+17188A= | |
X | g.77988949A>G | CA1134505809 | ATP7A,PGK1 | c.640+218A>G (n.640+218A>G) n.772+218A>G n.990A>G c.610+218A>G (n.610+218A>G) n.728+218A>G c.646+218A>G (n.646+218A>G) n.964+218A>G n.750+218A>G n.921+218A>G n.946A>G n.1131A>G n.711+218A>G n.762+218A>G c.*524+218A>G (n.*524+218A>G) n.919+218A>G n.901+218A>G c.*539+218A>G (n.*539+218A>G) c.-20+78114A>G (n.-20+78114A>G) n.321+17188A>G n.284+17188A>G | dbSNP gnomAD v3 gnomAD v4 |
X | g.77988956T>G | CA878418218 | ATP7A,PGK1 | c.640+225T>G (n.640+225T>G) n.772+225T>G n.997T>G c.610+225T>G (n.610+225T>G) n.728+225T>G c.646+225T>G (n.646+225T>G) n.964+225T>G n.750+225T>G n.921+225T>G n.953T>G n.1138T>G n.711+225T>G n.762+225T>G c.*524+225T>G (n.*524+225T>G) n.919+225T>G n.901+225T>G c.*539+225T>G (n.*539+225T>G) c.-20+78121T>G (n.-20+78121T>G) n.321+17195T>G n.284+17195T>G | dbSNP |
X | g.77988956T= | CA2439093171 | ATP7A,PGK1 | c.640+225T= (n.640+225T=) n.772+225T= n.997T= c.610+225T= (n.610+225T=) n.728+225T= c.646+225T= (n.646+225T=) n.964+225T= n.750+225T= n.921+225T= n.953T= n.1138T= n.711+225T= n.762+225T= c.*524+225T= (n.*524+225T=) n.919+225T= n.901+225T= c.*539+225T= (n.*539+225T=) c.-20+78121T= (n.-20+78121T=) n.321+17195T= n.284+17195T= | |
X | g.77988956_77988957insTACGCTCCGTAA | CA2552798066 | ATP7A,PGK1 | c.640+225_640+226insTACGCTCCGTAA (n.640+225_640+226insTACGCTCCGTAA) n.772+225_772+226insTACGCTCCGTAA n.997_998insTACGCTCCGTAA c.610+225_610+226insTACGCTCCGTAA (n.610+225_610+226insTACGCTCCGTAA) n.728+225_728+226insTACGCTCCGTAA c.646+225_646+226insTACGCTCCGTAA (n.646+225_646+226insTACGCTCCGTAA) n.964+225_964+226insTACGCTCCGTAA n.750+225_750+226insTACGCTCCGTAA n.921+225_921+226insTACGCTCCGTAA n.953_954insTACGCTCCGTAA n.1138_1139insTACGCTCCGTAA n.711+225_711+226insTACGCTCCGTAA n.762+225_762+226insTACGCTCCGTAA c.*524+225_*524+226insTACGCTCCGTAA (n.*524+225_*524+226insTACGCTCCGTAA) n.919+225_919+226insTACGCTCCGTAA n.901+225_901+226insTACGCTCCGTAA c.*539+225_*539+226insTACGCTCCGTAA (n.*539+225_*539+226insTACGCTCCGTAA) c.-20+78121_-20+78122insTACGCTCCGTAA (n.-20+78121_-20+78122insTACGCTCCGTAA) n.321+17195_321+17196insTACGCTCCGTAA n.284+17195_284+17196insTACGCTCCGTAA | |
X | g.77988956_77988957insTACGCTCTGTAA | CA2534137230 | ATP7A,PGK1 | c.640+225_640+226insTACGCTCTGTAA (n.640+225_640+226insTACGCTCTGTAA) n.772+225_772+226insTACGCTCTGTAA n.997_998insTACGCTCTGTAA c.610+225_610+226insTACGCTCTGTAA (n.610+225_610+226insTACGCTCTGTAA) n.728+225_728+226insTACGCTCTGTAA c.646+225_646+226insTACGCTCTGTAA (n.646+225_646+226insTACGCTCTGTAA) n.964+225_964+226insTACGCTCTGTAA n.750+225_750+226insTACGCTCTGTAA n.921+225_921+226insTACGCTCTGTAA n.953_954insTACGCTCTGTAA n.1138_1139insTACGCTCTGTAA n.711+225_711+226insTACGCTCTGTAA n.762+225_762+226insTACGCTCTGTAA c.*524+225_*524+226insTACGCTCTGTAA (n.*524+225_*524+226insTACGCTCTGTAA) n.919+225_919+226insTACGCTCTGTAA n.901+225_901+226insTACGCTCTGTAA c.*539+225_*539+226insTACGCTCTGTAA (n.*539+225_*539+226insTACGCTCTGTAA) c.-20+78121_-20+78122insTACGCTCTGTAA (n.-20+78121_-20+78122insTACGCTCTGTAA) n.321+17195_321+17196insTACGCTCTGTAA n.284+17195_284+17196insTACGCTCTGTAA | |
X | g.77988956_77988957insTACGTTCTGTAA | CA2516820999 | ATP7A,PGK1 | c.640+225_640+226insTACGTTCTGTAA (n.640+225_640+226insTACGTTCTGTAA) n.772+225_772+226insTACGTTCTGTAA n.997_998insTACGTTCTGTAA c.610+225_610+226insTACGTTCTGTAA (n.610+225_610+226insTACGTTCTGTAA) n.728+225_728+226insTACGTTCTGTAA c.646+225_646+226insTACGTTCTGTAA (n.646+225_646+226insTACGTTCTGTAA) n.964+225_964+226insTACGTTCTGTAA n.750+225_750+226insTACGTTCTGTAA n.921+225_921+226insTACGTTCTGTAA n.953_954insTACGTTCTGTAA n.1138_1139insTACGTTCTGTAA n.711+225_711+226insTACGTTCTGTAA n.762+225_762+226insTACGTTCTGTAA c.*524+225_*524+226insTACGTTCTGTAA (n.*524+225_*524+226insTACGTTCTGTAA) n.919+225_919+226insTACGTTCTGTAA n.901+225_901+226insTACGTTCTGTAA c.*539+225_*539+226insTACGTTCTGTAA (n.*539+225_*539+226insTACGTTCTGTAA) c.-20+78121_-20+78122insTACGTTCTGTAA (n.-20+78121_-20+78122insTACGTTCTGTAA) n.321+17195_321+17196insTACGTTCTGTAA n.284+17195_284+17196insTACGTTCTGTAA | |
X | g.77988958_77988959insGGTTTTGG | CA2549002002 | ATP7A,PGK1 | c.640+227_640+228insGGTTTTGG (n.640+227_640+228insGGTTTTGG) n.772+227_772+228insGGTTTTGG n.999_1000insGGTTTTGG c.610+227_610+228insGGTTTTGG (n.610+227_610+228insGGTTTTGG) n.728+227_728+228insGGTTTTGG c.646+227_646+228insGGTTTTGG (n.646+227_646+228insGGTTTTGG) n.964+227_964+228insGGTTTTGG n.750+227_750+228insGGTTTTGG n.921+227_921+228insGGTTTTGG n.955_956insGGTTTTGG n.1140_1141insGGTTTTGG n.711+227_711+228insGGTTTTGG n.762+227_762+228insGGTTTTGG c.*524+227_*524+228insGGTTTTGG (n.*524+227_*524+228insGGTTTTGG) n.919+227_919+228insGGTTTTGG n.901+227_901+228insGGTTTTGG c.*539+227_*539+228insGGTTTTGG (n.*539+227_*539+228insGGTTTTGG) c.-20+78123_-20+78124insGGTTTTGG (n.-20+78123_-20+78124insGGTTTTGG) n.321+17197_321+17198insGGTTTTGG n.284+17197_284+17198insGGTTTTGG | |
X | g.77988960_77988961insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT | CA2530892853 | ATP7A,PGK1 | c.640+229_640+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.640+229_640+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.772+229_772+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.1001_1002insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.610+229_610+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.610+229_610+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.728+229_728+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.646+229_646+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.646+229_646+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.964+229_964+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.750+229_750+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.921+229_921+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.957_958insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.1142_1143insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.711+229_711+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.762+229_762+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.*524+229_*524+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.*524+229_*524+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.919+229_919+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.901+229_901+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.*539+229_*539+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.*539+229_*539+230insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) c.-20+78125_-20+78126insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.-20+78125_-20+78126insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.321+17199_321+17200insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.284+17199_284+17200insTCTGATTGCGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT | |
X | g.77988960_77988961insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT | CA2552802687 | ATP7A,PGK1 | c.640+229_640+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.640+229_640+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.772+229_772+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.1001_1002insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.610+229_610+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.610+229_610+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.728+229_728+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.646+229_646+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.646+229_646+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.964+229_964+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.750+229_750+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.921+229_921+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.957_958insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.1142_1143insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.711+229_711+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.762+229_762+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.*524+229_*524+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.*524+229_*524+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.919+229_919+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.901+229_901+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.*539+229_*539+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.*539+229_*539+230insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) c.-20+78125_-20+78126insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.-20+78125_-20+78126insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.321+17199_321+17200insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.284+17199_284+17200insCCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT | |
X | g.77988960_77988961insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT | CA2544656745 | ATP7A,PGK1 | c.640+229_640+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.640+229_640+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.772+229_772+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.1001_1002insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.610+229_610+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.610+229_610+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.728+229_728+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.646+229_646+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.646+229_646+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.964+229_964+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.750+229_750+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.921+229_921+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.957_958insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.1142_1143insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.711+229_711+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.762+229_762+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.*524+229_*524+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.*524+229_*524+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.919+229_919+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.901+229_901+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.*539+229_*539+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.*539+229_*539+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) c.-20+78125_-20+78126insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.-20+78125_-20+78126insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.321+17199_321+17200insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.284+17199_284+17200insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTCTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT | |
X | g.77988960_77988961insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT | CA2503137362 | ATP7A,PGK1 | c.640+229_640+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.640+229_640+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.772+229_772+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.1001_1002insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.610+229_610+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.610+229_610+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.728+229_728+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.646+229_646+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.646+229_646+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.964+229_964+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.750+229_750+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.921+229_921+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.957_958insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.1142_1143insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.711+229_711+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.762+229_762+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.*524+229_*524+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.*524+229_*524+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.919+229_919+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.901+229_901+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT c.*539+229_*539+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.*539+229_*539+230insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) c.-20+78125_-20+78126insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT (n.-20+78125_-20+78126insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT) n.321+17199_321+17200insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT n.284+17199_284+17200insTCTGATTACGGTTGTTCTTGTTATTGCCTTTTTTGTTCTTTTTGTTGTTATTCCAGTTACTATTCTTTTGATTTCTCACTTGATTTTGACTACTTCGATTCTTTT | |
X | g.77988971C>A | CA642488835 | ATP7A,PGK1 | c.640+240C>A (n.640+240C>A) n.772+240C>A n.1012C>A c.610+240C>A (n.610+240C>A) n.728+240C>A c.646+240C>A (n.646+240C>A) n.964+240C>A n.750+240C>A n.921+240C>A n.968C>A n.1153C>A n.711+240C>A n.762+240C>A c.*524+240C>A (n.*524+240C>A) n.919+240C>A n.901+240C>A c.*539+240C>A (n.*539+240C>A) c.-20+78136C>A (n.-20+78136C>A) n.321+17210C>A n.284+17210C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.77988971C= | CA2439093172 | ATP7A,PGK1 | c.640+240C= (n.640+240C=) n.772+240C= n.1012C= c.610+240C= (n.610+240C=) n.728+240C= c.646+240C= (n.646+240C=) n.964+240C= n.750+240C= n.921+240C= n.968C= n.1153C= n.711+240C= n.762+240C= c.*524+240C= (n.*524+240C=) n.919+240C= n.901+240C= c.*539+240C= (n.*539+240C=) c.-20+78136C= (n.-20+78136C=) n.321+17210C= n.284+17210C= | |
X | g.77988973A= | CA2439093173 | ATP7A,PGK1 | c.640+242A= (n.640+242A=) n.772+242A= n.1014A= c.610+242A= (n.610+242A=) n.728+242A= c.646+242A= (n.646+242A=) n.964+242A= n.750+242A= n.921+242A= n.970A= n.1155A= n.711+242A= n.762+242A= c.*524+242A= (n.*524+242A=) n.919+242A= n.901+242A= c.*539+242A= (n.*539+242A=) c.-20+78138A= (n.-20+78138A=) n.321+17212A= n.284+17212A= | |
X | g.77988973A>G | CA2439093174 | ATP7A,PGK1 | c.640+242A>G (n.640+242A>G) n.772+242A>G n.1014A>G c.610+242A>G (n.610+242A>G) n.728+242A>G c.646+242A>G (n.646+242A>G) n.964+242A>G n.750+242A>G n.921+242A>G n.970A>G n.1155A>G n.711+242A>G n.762+242A>G c.*524+242A>G (n.*524+242A>G) n.919+242A>G n.901+242A>G c.*539+242A>G (n.*539+242A>G) c.-20+78138A>G (n.-20+78138A>G) n.321+17212A>G n.284+17212A>G | dbSNP |
X | g.77988978A= | CA2439093175 | ATP7A,PGK1 | c.640+247A= (n.640+247A=) n.772+247A= n.1019A= c.610+247A= (n.610+247A=) n.728+247A= c.646+247A= (n.646+247A=) n.964+247A= n.750+247A= n.921+247A= n.975A= n.1160A= n.711+247A= n.762+247A= c.*524+247A= (n.*524+247A=) n.919+247A= n.901+247A= c.*539+247A= (n.*539+247A=) c.-20+78143A= (n.-20+78143A=) n.321+17217A= n.284+17217A= | |
X | g.77988978A>T | CA2439093176 | ATP7A,PGK1 | c.640+247A>T (n.640+247A>T) n.772+247A>T n.1019A>T c.610+247A>T (n.610+247A>T) n.728+247A>T c.646+247A>T (n.646+247A>T) n.964+247A>T n.750+247A>T n.921+247A>T n.975A>T n.1160A>T n.711+247A>T n.762+247A>T c.*524+247A>T (n.*524+247A>T) n.919+247A>T n.901+247A>T c.*539+247A>T (n.*539+247A>T) c.-20+78143A>T (n.-20+78143A>T) n.321+17217A>T n.284+17217A>T | dbSNP |
X | g.77988979C= | CA2439093177 | ATP7A,PGK1 | c.640+248C= (n.640+248C=) n.772+248C= n.1020C= c.610+248C= (n.610+248C=) n.728+248C= c.646+248C= (n.646+248C=) n.964+248C= n.750+248C= n.921+248C= n.976C= n.1161C= n.711+248C= n.762+248C= c.*524+248C= (n.*524+248C=) n.919+248C= n.901+248C= c.*539+248C= (n.*539+248C=) c.-20+78144C= (n.-20+78144C=) n.321+17218C= n.284+17218C= | |
X | g.77988979C>T | CA878418233 | ATP7A,PGK1 | c.640+248C>T (n.640+248C>T) n.772+248C>T n.1020C>T c.610+248C>T (n.610+248C>T) n.728+248C>T c.646+248C>T (n.646+248C>T) n.964+248C>T n.750+248C>T n.921+248C>T n.976C>T n.1161C>T n.711+248C>T n.762+248C>T c.*524+248C>T (n.*524+248C>T) n.919+248C>T n.901+248C>T c.*539+248C>T (n.*539+248C>T) c.-20+78144C>T (n.-20+78144C>T) n.321+17218C>T n.284+17218C>T | dbSNP gnomAD v3 gnomAD v4 |
X | g.77988983G>A | CA2439093179 | ATP7A,PGK1 | c.641-250G>A (n.641-250G>A) n.773-250G>A n.1024G>A c.611-250G>A (n.611-250G>A) n.729-250G>A c.647-250G>A (n.647-250G>A) n.965-250G>A n.751-250G>A n.922-250G>A n.980G>A n.1165G>A n.712-250G>A n.763-250G>A c.*525-250G>A (n.*525-250G>A) n.920-250G>A n.902-250G>A c.*540-250G>A (n.*540-250G>A) c.-20+78148G>A (n.-20+78148G>A) n.321+17222G>A n.284+17222G>A | dbSNP |
X | g.77988983G= | CA2439093178 | ATP7A,PGK1 | c.641-250G= (n.641-250G=) n.773-250G= n.1024G= c.611-250G= (n.611-250G=) n.729-250G= c.647-250G= (n.647-250G=) n.965-250G= n.751-250G= n.922-250G= n.980G= n.1165G= n.712-250G= n.763-250G= c.*525-250G= (n.*525-250G=) n.920-250G= n.902-250G= c.*540-250G= (n.*540-250G=) c.-20+78148G= (n.-20+78148G=) n.321+17222G= n.284+17222G= |