Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.25891679_25891681delinsAGTCA2383551579APPc.2211+41_2211+43delinsACT (p.=)
c.1986+41_1986+43delinsACT (p.=)
c.1818+41_1818+43delinsACT (p.=)
c.2154+41_2154+43delinsACT (p.=)
c.2157+41_2157+43delinsACT (p.=)
c.1881+41_1881+43delinsACT (p.=)
c.2043+41_2043+43delinsACT (p.=)
c.2139+41_2139+43delinsACT (p.=)
n.558+41_558+43delinsACT
c.2100+41_2100+43delinsACT (p.=)
c.1932+41_1932+43delinsACT (p.=)
21g.25891680_25891681delCA1021421475APPc.2211+41_2211+42del (p.=)
c.1986+41_1986+42del (p.=)
c.1818+41_1818+42del (p.=)
c.2154+41_2154+42del (p.=)
c.2157+41_2157+42del (p.=)
c.1881+41_1881+42del (p.=)
c.2043+41_2043+42del (p.=)
c.2139+41_2139+42del (p.=)
n.558+41_558+42del
c.2100+41_2100+42del (p.=)
c.1932+41_1932+42del (p.=)
dbSNP
21g.25891684T>GCA9987040APPc.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
21g.25891684T=CA2383551580APPc.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.=)
21g.25891687T>CCA637162689APPc.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
21g.25891687T=CA2383551581APPc.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.=)
21g.25891688T>CCA637162690APPc.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
21g.25891688T=CA2383551582APPc.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.=)
21g.25891689C>ACA9987042APPc.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
21g.25891689C=CA2383551583APPc.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.=)
21g.25891689C>GCA9987041APPc.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
21g.25891696G>CCA9987043APPc.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
21g.25891696G=CA2383551584APPc.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.=)
21g.25891696G>TCA319097530APPc.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
21g.25891697G=CA2383551585APPc.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.=)
21g.25891697G>TCA319097536APPc.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
21g.25891701C=CA2383551586APPc.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.=)
21g.25891702dupCA9987044APPc.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
21g.25891705C=CA2383551587APPc.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.=)
21g.25891705C>TCA637162691APPc.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
21g.25891707G=CA2383551588APPc.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.=)
21g.25891707G>TCA9987045APPc.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
21g.25891711A=CA2383551589APPc.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.=)
21g.25891711A>GCA2383551590APPc.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.=)
21g.25891719T>ACA637162692APPc.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
21g.25891719T=CA2383551591APPc.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.=)
21g.25891720A=CA2383551592APPc.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.=)
21g.25891720A>CCA9987046APPc.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
21g.25891720A>GCA409805406APPc.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.=)
21g.25891720A>TCA409805407APPc.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.=)
21g.25891721C>ACA409805409APPc.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.=)
21g.25891721C>GCA409805410APPc.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.=)
21g.25891721C>TCA409805408APPc.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.=)
21g.25891722C>ACA409805411APPc.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)
21g.25891722C>GCA409805412APPc.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)
21g.25891722C>TCA511685953APPc.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=)
21g.25891723T>ACA409805413APPc.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)
21g.25891723T>CCA409805414APPc.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)
21g.25891723T>GCA409805415APPc.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)
21g.25891724C>ACA409805416APPc.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)
21g.25891724C>GCA409805417APPc.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)
21g.25891724C>TCA409805418APPc.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)
21g.25891725C>ACA511685954APPc.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=)
21g.25891725C=CA2383551593APPc.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=)
21g.25891725C>GCA511685955APPc.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=)
21g.25891725C>TCA9987047APPc.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
21g.25891726A>CCA409805419APPc.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)
21g.25891726A>GCA409805420APPc.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)
21g.25891726A>TCA409805421APPc.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)
21g.25891727C>ACA409805423APPc.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)

Number of alleles fetched