Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.25891653C>T | CA748242610 | APP | c.2211+69G>A (p.=) c.1986+69G>A (p.=) c.1818+69G>A (p.=) c.2154+69G>A (p.=) c.2157+69G>A (p.=) c.1881+69G>A (p.=) c.2043+69G>A (p.=) c.2139+69G>A (p.=) c.2100+69G>A (p.=) c.1932+69G>A (p.=) | |
21 | g.25891654A>T | CA637162680 | APP | c.2211+68T>A (p.=) c.1986+68T>A (p.=) c.1818+68T>A (p.=) c.2154+68T>A (p.=) c.2157+68T>A (p.=) c.1881+68T>A (p.=) c.2043+68T>A (p.=) c.2139+68T>A (p.=) c.2100+68T>A (p.=) c.1932+68T>A (p.=) | gnomAD |
21 | g.25891657A>G | CA637162681 | APP | c.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.=) c.2100+65T>C (p.=) c.1932+65T>C (p.=) | gnomAD |
21 | g.25891659G>A | CA637162682 | APP | c.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.=) c.2100+63C>T (p.=) c.1932+63C>T (p.=) | gnomAD |
21 | g.25891659G>C | CA1021421455 | APP | c.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.=) c.2100+63C>G (p.=) c.1932+63C>G (p.=) | |
21 | g.25891660C>T | CA748242623 | APP | c.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.=) c.2100+62G>A (p.=) c.1932+62G>A (p.=) | |
21 | g.25891661T>C | CA748242624 | APP | c.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.=) c.2100+61A>G (p.=) c.1932+61A>G (p.=) | |
21 | g.25891662A>C | CA319097458 | APP | c.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.=) c.2100+60T>G (p.=) c.1932+60T>G (p.=) | dbSNP |
21 | g.25891662del | CA637162683 | APP | c.2211+59del (p.=) c.1986+59del (p.=) c.1818+59del (p.=) c.2154+59del (p.=) c.2157+59del (p.=) c.1881+59del (p.=) c.2043+59del (p.=) c.2139+59del (p.=) c.2100+59del (p.=) c.1932+59del (p.=) | dbSNP gnomAD |
21 | g.25891665C>G | CA319097470 | APP | c.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.=) c.2100+57G>C (p.=) c.1932+57G>C (p.=) | dbSNP |
21 | g.25891665del | CA637162684 | APP | c.2211+56del (p.=) c.1986+56del (p.=) c.1818+56del (p.=) c.2154+56del (p.=) c.2157+56del (p.=) c.1881+56del (p.=) c.2043+56del (p.=) c.2139+56del (p.=) c.2100+56del (p.=) c.1932+56del (p.=) | dbSNP gnomAD |
21 | g.25891669A>C | CA637162685 | APP | c.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.=) c.2100+53T>G (p.=) c.1932+53T>G (p.=) | gnomAD |
21 | g.25891671T>A | CA9987038 | APP | c.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.=) c.2100+51A>T (p.=) c.1932+51A>T (p.=) | dbSNP ExAC gnomAD |
21 | g.25891671_25891672del | CA637162686 | APP | c.2211+46_2211+47del (p.=) c.1986+46_1986+47del (p.=) c.1818+46_1818+47del (p.=) c.2154+46_2154+47del (p.=) c.2157+46_2157+47del (p.=) c.1881+46_1881+47del (p.=) c.2043+46_2043+47del (p.=) c.2139+46_2139+47del (p.=) c.2100+46_2100+47del (p.=) c.1932+46_1932+47del (p.=) | dbSNP gnomAD |
21 | g.25891674C>T | CA9987039 | APP | c.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.=) c.2100+48G>A (p.=) c.1932+48G>A (p.=) | dbSNP ExAC gnomAD |
21 | g.25891675T>A | CA319097494 | APP | c.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.=) c.2100+47A>T (p.=) c.1932+47A>T (p.=) | dbSNP |
21 | g.25891676_25891677del | CA748242656 | APP | c.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.=) c.2100+45_2100+46del (p.=) c.1932+45_1932+46del (p.=) | dbSNP |
21 | g.25891677A>G | CA637162688 | APP | c.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.=) c.2100+45T>C (p.=) c.1932+45T>C (p.=) | gnomAD |
21 | g.25891677_25891678del | CA637162687 | APP | c.2211+43_2211+44del (p.=) c.1986+43_1986+44del (p.=) c.1818+43_1818+44del (p.=) c.2154+43_2154+44del (p.=) c.2157+43_2157+44del (p.=) c.1881+43_1881+44del (p.=) c.2043+43_2043+44del (p.=) c.2139+43_2139+44del (p.=) c.2100+43_2100+44del (p.=) c.1932+43_1932+44del (p.=) | dbSNP gnomAD |
21 | g.25891680_25891681del | CA1021421475 | APP | c.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.=) c.2100+41_2100+42del (p.=) c.1932+41_1932+42del (p.=) | |
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.=) c.2100+38A>C (p.=) c.1932+38A>C (p.=) | dbSNP ExAC gnomAD |
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.=) c.2100+35A>G (p.=) c.1932+35A>G (p.=) | gnomAD |
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.=) c.2100+34A>G (p.=) c.1932+34A>G (p.=) | gnomAD |
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.=) c.2100+33G>T (p.=) c.1932+33G>T (p.=) | dbSNP ExAC gnomAD |
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.=) c.2100+33G>C (p.=) c.1932+33G>C (p.=) | dbSNP ExAC gnomAD |
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.=) c.2100+26C>G (p.=) c.1932+26C>G (p.=) | dbSNP ExAC gnomAD |
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.=) c.2100+26C>A (p.=) c.1932+26C>A (p.=) | dbSNP |
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.=) c.2100+25C>A (p.=) c.1932+25C>A (p.=) | dbSNP |
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.=) c.2100+20dup (p.=) c.1932+20dup (p.=) | dbSNP ExAC gnomAD |
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.=) c.2100+17G>A (p.=) c.1932+17G>A (p.=) | gnomAD |
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.=) c.2100+15C>A (p.=) c.1932+15C>A (p.=) | dbSNP ExAC gnomAD |
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.=) c.2100+3A>T (p.=) c.1932+3A>T (p.=) | gnomAD |
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.=) 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.=) 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.=) 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.=) 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.=) 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.=) 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) 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) 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=) 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) 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) 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) 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) 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) 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) 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=) c.2097G>T (p.Val699=) c.1929G>T (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=) 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=) c.2097G>A (p.Val699=) c.1929G>A (p.Val643=) | dbSNP ExAC gnomAD |