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| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.25891684T>G | CA9987040 | APP | c.2211+38A>C (p.=) c.1986+38A>C (p.=) c.1818+38A>C (p.=) c.2154+38A>C (p.=) c.2157+38A>C (p.=) c.1881+38A>C (p.=) c.2043+38A>C (p.=) c.2139+38A>C (p.=) n.558+38A>C c.2100+38A>C (p.=) c.1932+38A>C (p.=) | dbSNP ExAC gnomAD |
| 21 | g.25891684T= | CA2383551580 | APP | c.2211+38A= (p.=) c.1986+38A= (p.=) c.1818+38A= (p.=) c.2154+38A= (p.=) c.2157+38A= (p.=) c.1881+38A= (p.=) c.2043+38A= (p.=) c.2139+38A= (p.=) n.558+38A= c.2100+38A= (p.=) c.1932+38A= (p.=) | |
| 21 | g.25891687T>C | CA637162689 | APP | c.2211+35A>G (p.=) c.1986+35A>G (p.=) c.1818+35A>G (p.=) c.2154+35A>G (p.=) c.2157+35A>G (p.=) c.1881+35A>G (p.=) c.2043+35A>G (p.=) c.2139+35A>G (p.=) n.558+35A>G c.2100+35A>G (p.=) c.1932+35A>G (p.=) | gnomAD |
| 21 | g.25891687T= | CA2383551581 | APP | c.2211+35A= (p.=) c.1986+35A= (p.=) c.1818+35A= (p.=) c.2154+35A= (p.=) c.2157+35A= (p.=) c.1881+35A= (p.=) c.2043+35A= (p.=) c.2139+35A= (p.=) n.558+35A= c.2100+35A= (p.=) c.1932+35A= (p.=) | |
| 21 | g.25891688T>C | CA637162690 | APP | c.2211+34A>G (p.=) c.1986+34A>G (p.=) c.1818+34A>G (p.=) c.2154+34A>G (p.=) c.2157+34A>G (p.=) c.1881+34A>G (p.=) c.2043+34A>G (p.=) c.2139+34A>G (p.=) n.558+34A>G c.2100+34A>G (p.=) c.1932+34A>G (p.=) | gnomAD |
| 21 | g.25891688T= | CA2383551582 | APP | c.2211+34A= (p.=) c.1986+34A= (p.=) c.1818+34A= (p.=) c.2154+34A= (p.=) c.2157+34A= (p.=) c.1881+34A= (p.=) c.2043+34A= (p.=) c.2139+34A= (p.=) n.558+34A= c.2100+34A= (p.=) c.1932+34A= (p.=) | |
| 21 | g.25891689C>A | CA9987042 | APP | c.2211+33G>T (p.=) c.1986+33G>T (p.=) c.1818+33G>T (p.=) c.2154+33G>T (p.=) c.2157+33G>T (p.=) c.1881+33G>T (p.=) c.2043+33G>T (p.=) c.2139+33G>T (p.=) n.558+33G>T c.2100+33G>T (p.=) c.1932+33G>T (p.=) | dbSNP ExAC gnomAD |
| 21 | g.25891689C= | CA2383551583 | APP | c.2211+33G= (p.=) c.1986+33G= (p.=) c.1818+33G= (p.=) c.2154+33G= (p.=) c.2157+33G= (p.=) c.1881+33G= (p.=) c.2043+33G= (p.=) c.2139+33G= (p.=) n.558+33G= c.2100+33G= (p.=) c.1932+33G= (p.=) | |
| 21 | g.25891689C>G | CA9987041 | APP | c.2211+33G>C (p.=) c.1986+33G>C (p.=) c.1818+33G>C (p.=) c.2154+33G>C (p.=) c.2157+33G>C (p.=) c.1881+33G>C (p.=) c.2043+33G>C (p.=) c.2139+33G>C (p.=) n.558+33G>C c.2100+33G>C (p.=) c.1932+33G>C (p.=) | dbSNP ExAC gnomAD |
| 21 | g.25891693C>T | CA2513729740 | APP | c.2211+29G>A (p.=) c.1986+29G>A (p.=) c.1818+29G>A (p.=) c.2154+29G>A (p.=) c.2157+29G>A (p.=) c.1881+29G>A (p.=) c.2043+29G>A (p.=) c.2139+29G>A (p.=) n.558+29G>A c.2100+29G>A (p.=) c.1932+29G>A (p.=) | |
| 21 | g.25891696G>C | CA9987043 | APP | c.2211+26C>G (p.=) c.1986+26C>G (p.=) c.1818+26C>G (p.=) c.2154+26C>G (p.=) c.2157+26C>G (p.=) c.1881+26C>G (p.=) c.2043+26C>G (p.=) c.2139+26C>G (p.=) n.558+26C>G c.2100+26C>G (p.=) c.1932+26C>G (p.=) | dbSNP ExAC gnomAD |
| 21 | g.25891696G= | CA2383551584 | APP | c.2211+26C= (p.=) c.1986+26C= (p.=) c.1818+26C= (p.=) c.2154+26C= (p.=) c.2157+26C= (p.=) c.1881+26C= (p.=) c.2043+26C= (p.=) c.2139+26C= (p.=) n.558+26C= c.2100+26C= (p.=) c.1932+26C= (p.=) | |
| 21 | g.25891696G>T | CA319097530 | APP | c.2211+26C>A (p.=) c.1986+26C>A (p.=) c.1818+26C>A (p.=) c.2154+26C>A (p.=) c.2157+26C>A (p.=) c.1881+26C>A (p.=) c.2043+26C>A (p.=) c.2139+26C>A (p.=) n.558+26C>A c.2100+26C>A (p.=) c.1932+26C>A (p.=) | dbSNP |
| 21 | g.25891697G= | CA2383551585 | APP | c.2211+25C= (p.=) c.1986+25C= (p.=) c.1818+25C= (p.=) c.2154+25C= (p.=) c.2157+25C= (p.=) c.1881+25C= (p.=) c.2043+25C= (p.=) c.2139+25C= (p.=) n.558+25C= c.2100+25C= (p.=) c.1932+25C= (p.=) | |
| 21 | g.25891697G>T | CA319097536 | APP | c.2211+25C>A (p.=) c.1986+25C>A (p.=) c.1818+25C>A (p.=) c.2154+25C>A (p.=) c.2157+25C>A (p.=) c.1881+25C>A (p.=) c.2043+25C>A (p.=) c.2139+25C>A (p.=) n.558+25C>A c.2100+25C>A (p.=) c.1932+25C>A (p.=) | dbSNP |
| 21 | g.25891701C= | CA2383551586 | APP | c.2211+21G= (p.=) c.1986+21G= (p.=) c.1818+21G= (p.=) c.2154+21G= (p.=) c.2157+21G= (p.=) c.1881+21G= (p.=) c.2043+21G= (p.=) c.2139+21G= (p.=) n.558+21G= c.2100+21G= (p.=) c.1932+21G= (p.=) | |
| 21 | g.25891702dup | CA9987044 | APP | c.2211+20dup (p.=) c.1986+20dup (p.=) c.1818+20dup (p.=) c.2154+20dup (p.=) c.2157+20dup (p.=) c.1881+20dup (p.=) c.2043+20dup (p.=) c.2139+20dup (p.=) n.558+20dup c.2100+20dup (p.=) c.1932+20dup (p.=) | dbSNP ExAC gnomAD |
| 21 | g.25891705C= | CA2383551587 | APP | c.2211+17G= (p.=) c.1986+17G= (p.=) c.1818+17G= (p.=) c.2154+17G= (p.=) c.2157+17G= (p.=) c.1881+17G= (p.=) c.2043+17G= (p.=) c.2139+17G= (p.=) n.558+17G= c.2100+17G= (p.=) c.1932+17G= (p.=) | |
| 21 | g.25891705C>T | CA637162691 | APP | c.2211+17G>A (p.=) c.1986+17G>A (p.=) c.1818+17G>A (p.=) c.2154+17G>A (p.=) c.2157+17G>A (p.=) c.1881+17G>A (p.=) c.2043+17G>A (p.=) c.2139+17G>A (p.=) n.558+17G>A c.2100+17G>A (p.=) c.1932+17G>A (p.=) | gnomAD |
| 21 | g.25891707G= | CA2383551588 | APP | c.2211+15C= (p.=) c.1986+15C= (p.=) c.1818+15C= (p.=) c.2154+15C= (p.=) c.2157+15C= (p.=) c.1881+15C= (p.=) c.2043+15C= (p.=) c.2139+15C= (p.=) n.558+15C= c.2100+15C= (p.=) c.1932+15C= (p.=) | |
| 21 | g.25891707G>T | CA9987045 | APP | c.2211+15C>A (p.=) c.1986+15C>A (p.=) c.1818+15C>A (p.=) c.2154+15C>A (p.=) c.2157+15C>A (p.=) c.1881+15C>A (p.=) c.2043+15C>A (p.=) c.2139+15C>A (p.=) n.558+15C>A c.2100+15C>A (p.=) c.1932+15C>A (p.=) | dbSNP ExAC gnomAD |
| 21 | g.25891711A= | CA2383551589 | APP | c.2211+11T= (p.=) c.1986+11T= (p.=) c.1818+11T= (p.=) c.2154+11T= (p.=) c.2157+11T= (p.=) c.1881+11T= (p.=) c.2043+11T= (p.=) c.2139+11T= (p.=) n.558+11T= c.2100+11T= (p.=) c.1932+11T= (p.=) | |
| 21 | g.25891711A>G | CA2383551590 | APP | c.2211+11T>C (p.=) c.1986+11T>C (p.=) c.1818+11T>C (p.=) c.2154+11T>C (p.=) c.2157+11T>C (p.=) c.1881+11T>C (p.=) c.2043+11T>C (p.=) c.2139+11T>C (p.=) n.558+11T>C c.2100+11T>C (p.=) c.1932+11T>C (p.=) | |
| 21 | g.25891719T>A | CA637162692 | APP | c.2211+3A>T (p.=) c.1986+3A>T (p.=) c.1818+3A>T (p.=) c.2154+3A>T (p.=) c.2157+3A>T (p.=) c.1881+3A>T (p.=) c.2043+3A>T (p.=) c.2139+3A>T (p.=) n.558+3A>T c.2100+3A>T (p.=) c.1932+3A>T (p.=) | gnomAD |
| 21 | g.25891719T= | CA2383551591 | APP | c.2211+3A= (p.=) c.1986+3A= (p.=) c.1818+3A= (p.=) c.2154+3A= (p.=) c.2157+3A= (p.=) c.1881+3A= (p.=) c.2043+3A= (p.=) c.2139+3A= (p.=) n.558+3A= c.2100+3A= (p.=) c.1932+3A= (p.=) | |
| 21 | g.25891720A= | CA2383551592 | APP | c.2211+2T= (p.=) c.1986+2T= (p.=) c.1818+2T= (p.=) c.2154+2T= (p.=) c.2157+2T= (p.=) c.1881+2T= (p.=) c.2043+2T= (p.=) c.2139+2T= (p.=) n.558+2T= c.2100+2T= (p.=) c.1932+2T= (p.=) | |
| 21 | g.25891720A>C | CA9987046 | APP | c.2211+2T>G (p.=) c.1986+2T>G (p.=) c.1818+2T>G (p.=) c.2154+2T>G (p.=) c.2157+2T>G (p.=) c.1881+2T>G (p.=) c.2043+2T>G (p.=) c.2139+2T>G (p.=) n.558+2T>G c.2100+2T>G (p.=) c.1932+2T>G (p.=) | dbSNP ExAC gnomAD |
| 21 | g.25891720A>G | CA409805406 | APP | c.2211+2T>C (p.=) c.1986+2T>C (p.=) c.1818+2T>C (p.=) c.2154+2T>C (p.=) c.2157+2T>C (p.=) c.1881+2T>C (p.=) c.2043+2T>C (p.=) c.2139+2T>C (p.=) n.558+2T>C c.2100+2T>C (p.=) c.1932+2T>C (p.=) | |
| 21 | g.25891720A>T | CA409805407 | APP | c.2211+2T>A (p.=) c.1986+2T>A (p.=) c.1818+2T>A (p.=) c.2154+2T>A (p.=) c.2157+2T>A (p.=) c.1881+2T>A (p.=) c.2043+2T>A (p.=) c.2139+2T>A (p.=) n.558+2T>A c.2100+2T>A (p.=) c.1932+2T>A (p.=) | |
| 21 | g.25891721C>A | CA409805409 | APP | c.2211+1G>T (p.=) c.1986+1G>T (p.=) c.1818+1G>T (p.=) c.2154+1G>T (p.=) c.2157+1G>T (p.=) c.1881+1G>T (p.=) c.2043+1G>T (p.=) c.2139+1G>T (p.=) n.558+1G>T c.2100+1G>T (p.=) c.1932+1G>T (p.=) | |
| 21 | g.25891721C>G | CA409805410 | APP | c.2211+1G>C (p.=) c.1986+1G>C (p.=) c.1818+1G>C (p.=) c.2154+1G>C (p.=) c.2157+1G>C (p.=) c.1881+1G>C (p.=) c.2043+1G>C (p.=) c.2139+1G>C (p.=) n.558+1G>C c.2100+1G>C (p.=) c.1932+1G>C (p.=) | |
| 21 | g.25891721C>T | CA409805408 | APP | c.2211+1G>A (p.=) c.1986+1G>A (p.=) c.1818+1G>A (p.=) c.2154+1G>A (p.=) c.2157+1G>A (p.=) c.1881+1G>A (p.=) c.2043+1G>A (p.=) c.2139+1G>A (p.=) n.558+1G>A c.2100+1G>A (p.=) c.1932+1G>A (p.=) | |
| 21 | g.25891722C>A | CA409805411 | APP | c.2211G>T (p.Glu737Asp) c.1986G>T (p.Glu662Asp) c.1818G>T (p.Glu606Asp) c.2154G>T (p.Glu718Asp) c.2157G>T (p.Glu719Asp) c.1881G>T (p.Glu627Asp) c.2043G>T (p.Glu681Asp) c.2139G>T (p.Glu713Asp) n.558G>T c.2100G>T (p.Glu700Asp) c.1932G>T (p.Glu644Asp) | |
| 21 | g.25891722C>G | CA409805412 | APP | c.2211G>C (p.Glu737Asp) c.1986G>C (p.Glu662Asp) c.1818G>C (p.Glu606Asp) c.2154G>C (p.Glu718Asp) c.2157G>C (p.Glu719Asp) c.1881G>C (p.Glu627Asp) c.2043G>C (p.Glu681Asp) c.2139G>C (p.Glu713Asp) n.558G>C c.2100G>C (p.Glu700Asp) c.1932G>C (p.Glu644Asp) | |
| 21 | g.25891722C>T | CA511685953 | APP | c.2211G>A (p.Glu737=) c.1986G>A (p.Glu662=) c.1818G>A (p.Glu606=) c.2154G>A (p.Glu718=) c.2157G>A (p.Glu719=) c.1881G>A (p.Glu627=) c.2043G>A (p.Glu681=) c.2139G>A (p.Glu713=) n.558G>A c.2100G>A (p.Glu700=) c.1932G>A (p.Glu644=) | |
| 21 | g.25891723T>A | CA409805413 | APP | c.2210A>T (p.Glu737Val) c.1985A>T (p.Glu662Val) c.1817A>T (p.Glu606Val) c.2153A>T (p.Glu718Val) c.2156A>T (p.Glu719Val) c.1880A>T (p.Glu627Val) c.2042A>T (p.Glu681Val) c.2138A>T (p.Glu713Val) n.557A>T c.2099A>T (p.Glu700Val) c.1931A>T (p.Glu644Val) | |
| 21 | g.25891723T>C | CA409805414 | APP | c.2210A>G (p.Glu737Gly) c.1985A>G (p.Glu662Gly) c.1817A>G (p.Glu606Gly) c.2153A>G (p.Glu718Gly) c.2156A>G (p.Glu719Gly) c.1880A>G (p.Glu627Gly) c.2042A>G (p.Glu681Gly) c.2138A>G (p.Glu713Gly) n.557A>G c.2099A>G (p.Glu700Gly) c.1931A>G (p.Glu644Gly) | |
| 21 | g.25891723T>G | CA409805415 | APP | c.2210A>C (p.Glu737Ala) c.1985A>C (p.Glu662Ala) c.1817A>C (p.Glu606Ala) c.2153A>C (p.Glu718Ala) c.2156A>C (p.Glu719Ala) c.1880A>C (p.Glu627Ala) c.2042A>C (p.Glu681Ala) c.2138A>C (p.Glu713Ala) n.557A>C c.2099A>C (p.Glu700Ala) c.1931A>C (p.Glu644Ala) | |
| 21 | g.25891724C>A | CA409805416 | APP | c.2209G>T (p.Glu737Ter) c.1984G>T (p.Glu662Ter) c.1816G>T (p.Glu606Ter) c.2152G>T (p.Glu718Ter) c.2155G>T (p.Glu719Ter) c.1879G>T (p.Glu627Ter) c.2041G>T (p.Glu681Ter) c.2137G>T (p.Glu713Ter) n.556G>T c.2098G>T (p.Glu700Ter) c.1930G>T (p.Glu644Ter) | |
| 21 | g.25891724C>G | CA409805417 | APP | c.2209G>C (p.Glu737Gln) c.1984G>C (p.Glu662Gln) c.1816G>C (p.Glu606Gln) c.2152G>C (p.Glu718Gln) c.2155G>C (p.Glu719Gln) c.1879G>C (p.Glu627Gln) c.2041G>C (p.Glu681Gln) c.2137G>C (p.Glu713Gln) n.556G>C c.2098G>C (p.Glu700Gln) c.1930G>C (p.Glu644Gln) | |
| 21 | g.25891724C>T | CA409805418 | APP | c.2209G>A (p.Glu737Lys) c.1984G>A (p.Glu662Lys) c.1816G>A (p.Glu606Lys) c.2152G>A (p.Glu718Lys) c.2155G>A (p.Glu719Lys) c.1879G>A (p.Glu627Lys) c.2041G>A (p.Glu681Lys) c.2137G>A (p.Glu713Lys) n.556G>A c.2098G>A (p.Glu700Lys) c.1930G>A (p.Glu644Lys) | |
| 21 | g.25891725C>A | CA511685954 | APP | c.2208G>T (p.Val736=) c.1983G>T (p.Val661=) c.1815G>T (p.Val605=) c.2151G>T (p.Val717=) c.2154G>T (p.Val718=) c.1878G>T (p.Val626=) c.2040G>T (p.Val680=) c.2136G>T (p.Val712=) n.555G>T c.2097G>T (p.Val699=) c.1929G>T (p.Val643=) | |
| 21 | g.25891725C= | CA2383551593 | APP | c.2208G= (p.Val736=) c.1983G= (p.Val661=) c.1815G= (p.Val605=) c.2151G= (p.Val717=) c.2154G= (p.Val718=) c.1878G= (p.Val626=) c.2040G= (p.Val680=) c.2136G= (p.Val712=) n.555G= c.2097G= (p.Val699=) c.1929G= (p.Val643=) | |
| 21 | g.25891725C>G | CA511685955 | APP | c.2208G>C (p.Val736=) c.1983G>C (p.Val661=) c.1815G>C (p.Val605=) c.2151G>C (p.Val717=) c.2154G>C (p.Val718=) c.1878G>C (p.Val626=) c.2040G>C (p.Val680=) c.2136G>C (p.Val712=) n.555G>C c.2097G>C (p.Val699=) c.1929G>C (p.Val643=) | |
| 21 | g.25891725C>T | CA9987047 | APP | c.2208G>A (p.Val736=) c.1983G>A (p.Val661=) c.1815G>A (p.Val605=) c.2151G>A (p.Val717=) c.2154G>A (p.Val718=) c.1878G>A (p.Val626=) c.2040G>A (p.Val680=) c.2136G>A (p.Val712=) n.555G>A c.2097G>A (p.Val699=) c.1929G>A (p.Val643=) | dbSNP ExAC gnomAD |
| 21 | g.25891726A>C | CA409805419 | APP | c.2207T>G (p.Val736Gly) c.1982T>G (p.Val661Gly) c.1814T>G (p.Val605Gly) c.2150T>G (p.Val717Gly) c.2153T>G (p.Val718Gly) c.1877T>G (p.Val626Gly) c.2039T>G (p.Val680Gly) c.2135T>G (p.Val712Gly) n.554T>G c.2096T>G (p.Val699Gly) c.1928T>G (p.Val643Gly) | |
| 21 | g.25891726A>G | CA409805420 | APP | c.2207T>C (p.Val736Ala) c.1982T>C (p.Val661Ala) c.1814T>C (p.Val605Ala) c.2150T>C (p.Val717Ala) c.2153T>C (p.Val718Ala) c.1877T>C (p.Val626Ala) c.2039T>C (p.Val680Ala) c.2135T>C (p.Val712Ala) n.554T>C c.2096T>C (p.Val699Ala) c.1928T>C (p.Val643Ala) | |
| 21 | g.25891726A>T | CA409805421 | APP | c.2207T>A (p.Val736Glu) c.1982T>A (p.Val661Glu) c.1814T>A (p.Val605Glu) c.2150T>A (p.Val717Glu) c.2153T>A (p.Val718Glu) c.1877T>A (p.Val626Glu) c.2039T>A (p.Val680Glu) c.2135T>A (p.Val712Glu) n.554T>A c.2096T>A (p.Val699Glu) c.1928T>A (p.Val643Glu) | |
| 21 | g.25891727C>A | CA409805423 | APP | c.2206G>T (p.Val736Leu) c.1981G>T (p.Val661Leu) c.1813G>T (p.Val605Leu) c.2149G>T (p.Val717Leu) c.2152G>T (p.Val718Leu) c.1876G>T (p.Val626Leu) c.2038G>T (p.Val680Leu) c.2134G>T (p.Val712Leu) n.553G>T c.2095G>T (p.Val699Leu) c.1927G>T (p.Val643Leu) | |
| 21 | g.25891727C>G | CA409805424 | APP | c.2206G>C (p.Val736Leu) c.1981G>C (p.Val661Leu) c.1813G>C (p.Val605Leu) c.2149G>C (p.Val717Leu) c.2152G>C (p.Val718Leu) c.1876G>C (p.Val626Leu) c.2038G>C (p.Val680Leu) c.2134G>C (p.Val712Leu) n.553G>C c.2095G>C (p.Val699Leu) c.1927G>C (p.Val643Leu) |