Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.25891657A>GCA637162681APPc.2211+65T>C (p.=)
c.1986+65T>C (p.=)
c.1818+65T>C (p.=)
c.2154+65T>C (p.=)
c.2157+65T>C (p.=)
c.1881+65T>C (p.=)
c.2043+65T>C (p.=)
c.2139+65T>C (p.=)
n.558+65T>C
c.2100+65T>C (p.=)
c.1932+65T>C (p.=)
gnomAD
21g.25891659G>ACA637162682APPc.2211+63C>T (p.=)
c.1986+63C>T (p.=)
c.1818+63C>T (p.=)
c.2154+63C>T (p.=)
c.2157+63C>T (p.=)
c.1881+63C>T (p.=)
c.2043+63C>T (p.=)
c.2139+63C>T (p.=)
n.558+63C>T
c.2100+63C>T (p.=)
c.1932+63C>T (p.=)
gnomAD
21g.25891659G>CCA1021421455APPc.2211+63C>G (p.=)
c.1986+63C>G (p.=)
c.1818+63C>G (p.=)
c.2154+63C>G (p.=)
c.2157+63C>G (p.=)
c.1881+63C>G (p.=)
c.2043+63C>G (p.=)
c.2139+63C>G (p.=)
n.558+63C>G
c.2100+63C>G (p.=)
c.1932+63C>G (p.=)
21g.25891660C>TCA748242623APPc.2211+62G>A (p.=)
c.1986+62G>A (p.=)
c.1818+62G>A (p.=)
c.2154+62G>A (p.=)
c.2157+62G>A (p.=)
c.1881+62G>A (p.=)
c.2043+62G>A (p.=)
c.2139+62G>A (p.=)
n.558+62G>A
c.2100+62G>A (p.=)
c.1932+62G>A (p.=)
21g.25891661T>CCA748242624APPc.2211+61A>G (p.=)
c.1986+61A>G (p.=)
c.1818+61A>G (p.=)
c.2154+61A>G (p.=)
c.2157+61A>G (p.=)
c.1881+61A>G (p.=)
c.2043+61A>G (p.=)
c.2139+61A>G (p.=)
n.558+61A>G
c.2100+61A>G (p.=)
c.1932+61A>G (p.=)
21g.25891662A>CCA319097458APPc.2211+60T>G (p.=)
c.1986+60T>G (p.=)
c.1818+60T>G (p.=)
c.2154+60T>G (p.=)
c.2157+60T>G (p.=)
c.1881+60T>G (p.=)
c.2043+60T>G (p.=)
c.2139+60T>G (p.=)
n.558+60T>G
c.2100+60T>G (p.=)
c.1932+60T>G (p.=)
dbSNP
21g.25891663delCA637162683APPc.2211+60del (p.=)
c.1986+60del (p.=)
c.1818+60del (p.=)
c.2154+60del (p.=)
c.2157+60del (p.=)
c.1881+60del (p.=)
c.2043+60del (p.=)
c.2139+60del (p.=)
n.558+60del
c.2100+60del (p.=)
c.1932+60del (p.=)
dbSNP gnomAD
21g.25891665C>GCA319097470APPc.2211+57G>C (p.=)
c.1986+57G>C (p.=)
c.1818+57G>C (p.=)
c.2154+57G>C (p.=)
c.2157+57G>C (p.=)
c.1881+57G>C (p.=)
c.2043+57G>C (p.=)
c.2139+57G>C (p.=)
n.558+57G>C
c.2100+57G>C (p.=)
c.1932+57G>C (p.=)
dbSNP
21g.25891666delCA637162684APPc.2211+57del (p.=)
c.1986+57del (p.=)
c.1818+57del (p.=)
c.2154+57del (p.=)
c.2157+57del (p.=)
c.1881+57del (p.=)
c.2043+57del (p.=)
c.2139+57del (p.=)
n.558+57del
c.2100+57del (p.=)
c.1932+57del (p.=)
dbSNP gnomAD
21g.25891669A>CCA637162685APPc.2211+53T>G (p.=)
c.1986+53T>G (p.=)
c.1818+53T>G (p.=)
c.2154+53T>G (p.=)
c.2157+53T>G (p.=)
c.1881+53T>G (p.=)
c.2043+53T>G (p.=)
c.2139+53T>G (p.=)
n.558+53T>G
c.2100+53T>G (p.=)
c.1932+53T>G (p.=)
gnomAD
21g.25891671T>ACA9987038APPc.2211+51A>T (p.=)
c.1986+51A>T (p.=)
c.1818+51A>T (p.=)
c.2154+51A>T (p.=)
c.2157+51A>T (p.=)
c.1881+51A>T (p.=)
c.2043+51A>T (p.=)
c.2139+51A>T (p.=)
n.558+51A>T
c.2100+51A>T (p.=)
c.1932+51A>T (p.=)
dbSNP ExAC gnomAD
21g.25891675_25891676delCA637162686APPc.2211+50_2211+51del (p.=)
c.1986+50_1986+51del (p.=)
c.1818+50_1818+51del (p.=)
c.2154+50_2154+51del (p.=)
c.2157+50_2157+51del (p.=)
c.1881+50_1881+51del (p.=)
c.2043+50_2043+51del (p.=)
c.2139+50_2139+51del (p.=)
n.558+50_558+51del
c.2100+50_2100+51del (p.=)
c.1932+50_1932+51del (p.=)
dbSNP gnomAD
21g.25891674C>TCA9987039APPc.2211+48G>A (p.=)
c.1986+48G>A (p.=)
c.1818+48G>A (p.=)
c.2154+48G>A (p.=)
c.2157+48G>A (p.=)
c.1881+48G>A (p.=)
c.2043+48G>A (p.=)
c.2139+48G>A (p.=)
n.558+48G>A
c.2100+48G>A (p.=)
c.1932+48G>A (p.=)
dbSNP ExAC gnomAD
21g.25891675T>ACA319097494APPc.2211+47A>T (p.=)
c.1986+47A>T (p.=)
c.1818+47A>T (p.=)
c.2154+47A>T (p.=)
c.2157+47A>T (p.=)
c.1881+47A>T (p.=)
c.2043+47A>T (p.=)
c.2139+47A>T (p.=)
n.558+47A>T
c.2100+47A>T (p.=)
c.1932+47A>T (p.=)
dbSNP
21g.25891676_25891677delCA748242656APPc.2211+45_2211+46del (p.=)
c.1986+45_1986+46del (p.=)
c.1818+45_1818+46del (p.=)
c.2154+45_2154+46del (p.=)
c.2157+45_2157+46del (p.=)
c.1881+45_1881+46del (p.=)
c.2043+45_2043+46del (p.=)
c.2139+45_2139+46del (p.=)
n.558+45_558+46del
c.2100+45_2100+46del (p.=)
c.1932+45_1932+46del (p.=)
dbSNP
21g.25891677A>GCA637162688APPc.2211+45T>C (p.=)
c.1986+45T>C (p.=)
c.1818+45T>C (p.=)
c.2154+45T>C (p.=)
c.2157+45T>C (p.=)
c.1881+45T>C (p.=)
c.2043+45T>C (p.=)
c.2139+45T>C (p.=)
n.558+45T>C
c.2100+45T>C (p.=)
c.1932+45T>C (p.=)
gnomAD
21g.25891678_25891679delCA637162687APPc.2211+44_2211+45del (p.=)
c.1986+44_1986+45del (p.=)
c.1818+44_1818+45del (p.=)
c.2154+44_2154+45del (p.=)
c.2157+44_2157+45del (p.=)
c.1881+44_1881+45del (p.=)
c.2043+44_2043+45del (p.=)
c.2139+44_2139+45del (p.=)
n.558+44_558+45del
c.2100+44_2100+45del (p.=)
c.1932+44_1932+45del (p.=)
dbSNP gnomAD
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.=)
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.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.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.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>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>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>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.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>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>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.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.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>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)

Number of alleles fetched