Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.73204386_73210243delCA233379PSEN1c.869-2000_956-1526del
c.857-2000_944-1526del
c.593-2000_680-1526del
n.869-2000_1047+1328del
n.421-2000_508-1526del
n.857-2000_1035+1328del
n.869-2000_955+3771del
ClinVar
14g.73204762_73209317delCA342911PSEN1c.869-1624_956-2452del
c.857-1624_944-2452del
c.593-1624_680-2452del
n.869-1624_1047+402del
n.421-1624_508-2452del
n.857-1624_1035+402del
n.869-1624_955+2845del
ClinVar
14g.73204762_73209316delCA233380PSEN1c.869-1624_956-2453del
c.857-1624_944-2453del
c.593-1624_680-2453del
n.869-1624_1047+401del
n.421-1624_508-2453del
n.857-1624_1035+401del
n.869-1624_955+2844del
ClinVar
14g.73206366_73206370delinsAATTTCA2146490216PSEN1c.869-20_869-16delinsAATTT (p.=)
c.857-20_857-16delinsAATTT (p.=)
c.593-20_593-16delinsAATTT (p.=)
n.869-20_869-16delinsAATTT (p.=)
n.421-20_421-16delinsAATTT
n.857-20_857-16delinsAATTT (p.=)
n.214_218delinsAATTT
14g.73206367_73206370delCA964629209PSEN1c.869-19_869-16del (p.=)
c.857-19_857-16del (p.=)
c.593-19_593-16del (p.=)
n.869-19_869-16del (p.=)
n.421-19_421-16del
n.857-19_857-16del (p.=)
n.215_218del
14g.73206370T>ACA708430812PSEN1c.869-16T>A (p.=)
c.857-16T>A (p.=)
c.593-16T>A (p.=)
n.869-16T>A (p.=)
n.421-16T>A
n.857-16T>A (p.=)
n.218T>A
14g.73206370T=CA2146490220PSEN1c.869-16T= (p.=)
c.857-16T= (p.=)
c.593-16T= (p.=)
n.869-16T= (p.=)
n.421-16T=
n.857-16T= (p.=)
n.218T=
14g.73206380C=CA2146490223PSEN1c.869-6C= (p.=)
c.857-6C= (p.=)
c.593-6C= (p.=)
n.869-6C= (p.=)
n.421-6C=
n.857-6C= (p.=)
n.228C=
14g.73206380C>TCA7256851PSEN1c.869-6C>T (p.=)
c.857-6C>T (p.=)
c.593-6C>T (p.=)
n.869-6C>T (p.=)
n.421-6C>T
n.857-6C>T (p.=)
n.228C>T
dbSNP ExAC gnomAD
14g.73206381A=CA2146490227PSEN1c.869-5A= (p.=)
c.857-5A= (p.=)
c.593-5A= (p.=)
n.869-5A= (p.=)
n.421-5A=
n.857-5A= (p.=)
n.229A=
14g.73206381A>GCA614998342PSEN1c.869-5A>G (p.=)
c.857-5A>G (p.=)
c.593-5A>G (p.=)
n.869-5A>G (p.=)
n.421-5A>G
n.857-5A>G (p.=)
n.229A>G
gnomAD
14g.73206384A=CA2146490235PSEN1c.869-2A= (p.=)
c.857-2A= (p.=)
c.593-2A= (p.=)
n.869-2A= (p.=)
n.421-2A=
n.857-2A= (p.=)
n.232A=
14g.73206384A>CCA390304662PSEN1c.869-2A>C (p.=)
c.857-2A>C (p.=)
c.593-2A>C (p.=)
n.869-2A>C (p.=)
n.421-2A>C
n.857-2A>C (p.=)
n.232A>C
14g.73206384A>GCA390304665PSEN1c.869-2A>G (p.=)
c.857-2A>G (p.=)
c.593-2A>G (p.=)
n.869-2A>G (p.=)
n.421-2A>G
n.857-2A>G (p.=)
n.232A>G
14g.73206384A>TCA390304667PSEN1c.869-2A>T (p.=)
c.857-2A>T (p.=)
c.593-2A>T (p.=)
n.869-2A>T (p.=)
n.421-2A>T
n.857-2A>T (p.=)
n.232A>T
ClinVar
14g.73206385G>ACA390304669PSEN1c.869-1G>A (p.=)
c.857-1G>A (p.=)
c.593-1G>A (p.=)
n.869-1G>A (p.=)
n.421-1G>A
n.857-1G>A (p.=)
n.233G>A
ClinVar
14g.73206385G>CCA390304670PSEN1c.869-1G>C (p.=)
c.857-1G>C (p.=)
c.593-1G>C (p.=)
n.869-1G>C (p.=)
n.421-1G>C
n.857-1G>C (p.=)
n.233G>C
14g.73206385G=CA2146490241PSEN1c.869-1G= (p.=)
c.857-1G= (p.=)
c.593-1G= (p.=)
n.869-1G= (p.=)
n.421-1G=
n.857-1G= (p.=)
n.233G=
14g.73206385G>TCA225142PSEN1c.869-1G>T (p.=)
c.857-1G>T (p.=)
c.593-1G>T (p.=)
n.869-1G>T (p.=)
n.421-1G>T
n.857-1G>T (p.=)
n.233G>T
ClinVar dbSNP
14g.73206386C>ACA390304678PSEN1c.869C>A (p.Ser290Ter)
c.857C>A (p.Ser286Ter)
c.593C>A (p.Ser198Ter)
n.869C>A (p.Ser290Ter)
n.421C>A
n.857C>A (p.Ser286Ter)
n.234C>A
14g.73206386C>GCA390304676PSEN1c.869C>G (p.Ser290Ter)
c.857C>G (p.Ser286Ter)
c.593C>G (p.Ser198Ter)
n.869C>G (p.Ser290Ter)
n.421C>G
n.857C>G (p.Ser286Ter)
n.234C>G
14g.73206386C>TCA390304674PSEN1c.869C>T (p.Ser290Leu)
c.857C>T (p.Ser286Leu)
c.593C>T (p.Ser198Leu)
n.869C>T (p.Ser290Leu)
n.421C>T
n.857C>T (p.Ser286Leu)
n.234C>T
14g.73206387A=CA2146490248PSEN1c.870A= (p.Ser290=)
c.858A= (p.Ser286=)
c.594A= (p.Ser198=)
n.870A= (p.Ser290=)
n.422A=
n.858A= (p.Ser286=)
n.235A=
14g.73206387A>CCA487097186PSEN1c.870A>C (p.Ser290=)
c.858A>C (p.Ser286=)
c.594A>C (p.Ser198=)
n.870A>C (p.Ser290=)
n.422A>C
n.858A>C (p.Ser286=)
n.235A>C
14g.73206387A>GCA487097187PSEN1c.870A>G (p.Ser290=)
c.858A>G (p.Ser286=)
c.594A>G (p.Ser198=)
n.870A>G (p.Ser290=)
n.422A>G
n.858A>G (p.Ser286=)
n.235A>G
14g.73206387A>TCA487097188PSEN1c.870A>T (p.Ser290=)
c.858A>T (p.Ser286=)
c.594A>T (p.Ser198=)
n.870A>T (p.Ser290=)
n.422A>T
n.858A>T (p.Ser286=)
n.235A>T
14g.73206388A=CA2146490255PSEN1c.871A= (p.Thr291=)
c.859A= (p.Thr287=)
c.595A= (p.Thr199=)
n.871A= (p.Thr291=)
n.423A=
n.859A= (p.Thr287=)
n.236A=
14g.73206388A>CCA225143PSEN1c.871A>C (p.Thr291Pro)
c.859A>C (p.Thr287Pro)
c.595A>C (p.Thr199Pro)
n.871A>C (p.Thr291Pro)
n.423A>C
n.859A>C (p.Thr287Pro)
n.236A>C
ClinVar dbSNP
14g.73206388A>GCA390304682PSEN1c.871A>G (p.Thr291Ala)
c.859A>G (p.Thr287Ala)
c.595A>G (p.Thr199Ala)
n.871A>G (p.Thr291Ala)
n.423A>G
n.859A>G (p.Thr287Ala)
n.236A>G
14g.73206388A>TCA390304681PSEN1c.871A>T (p.Thr291Ser)
c.859A>T (p.Thr287Ser)
c.595A>T (p.Thr199Ser)
n.871A>T (p.Thr291Ser)
n.423A>T
n.859A>T (p.Thr287Ser)
n.236A>T
14g.73206389C>ACA390304685PSEN1c.872C>A (p.Thr291Lys)
c.860C>A (p.Thr287Lys)
c.596C>A (p.Thr199Lys)
n.872C>A (p.Thr291Lys)
n.424C>A
n.860C>A (p.Thr287Lys)
n.237C>A
14g.73206389C>GCA390304686PSEN1c.872C>G (p.Thr291Arg)
c.860C>G (p.Thr287Arg)
c.596C>G (p.Thr199Arg)
n.872C>G (p.Thr291Arg)
n.424C>G
n.860C>G (p.Thr287Arg)
n.237C>G
14g.73206389C>TCA390304688PSEN1c.872C>T (p.Thr291Ile)
c.860C>T (p.Thr287Ile)
c.596C>T (p.Thr199Ile)
n.872C>T (p.Thr291Ile)
n.424C>T
n.860C>T (p.Thr287Ile)
n.237C>T
14g.73206390A>CCA487097189PSEN1c.873A>C (p.Thr291=)
c.861A>C (p.Thr287=)
c.597A>C (p.Thr199=)
n.873A>C (p.Thr291=)
n.425A>C
n.861A>C (p.Thr287=)
n.238A>C
14g.73206390A>GCA487097190PSEN1c.873A>G (p.Thr291=)
c.861A>G (p.Thr287=)
c.597A>G (p.Thr199=)
n.873A>G (p.Thr291=)
n.425A>G
n.861A>G (p.Thr287=)
n.238A>G
14g.73206390A>TCA487097191PSEN1c.873A>T (p.Thr291=)
c.861A>T (p.Thr287=)
c.597A>T (p.Thr199=)
n.873A>T (p.Thr291=)
n.425A>T
n.861A>T (p.Thr287=)
n.238A>T
14g.73206391A=CA2146490262PSEN1c.874A= (p.Met292=)
c.862A= (p.Met288=)
c.598A= (p.Met200=)
n.874A= (p.Met292=)
n.426A=
n.862A= (p.Met288=)
n.239A=
14g.73206391A>CCA390304691PSEN1c.874A>C (p.Met292Leu)
c.862A>C (p.Met288Leu)
c.598A>C (p.Met200Leu)
n.874A>C (p.Met292Leu)
n.426A>C
n.862A>C (p.Met288Leu)
n.239A>C
14g.73206391A>GCA390304693PSEN1c.874A>G (p.Met292Val)
c.862A>G (p.Met288Val)
c.598A>G (p.Met200Val)
n.874A>G (p.Met292Val)
n.426A>G
n.862A>G (p.Met288Val)
n.239A>G
14g.73206391A>TCA390304695PSEN1c.874A>T (p.Met292Leu)
c.862A>T (p.Met288Leu)
c.598A>T (p.Met200Leu)
n.874A>T (p.Met292Leu)
n.426A>T
n.862A>T (p.Met288Leu)
n.239A>T
14g.73206392T>ACA390304697PSEN1c.875T>A (p.Met292Lys)
c.863T>A (p.Met288Lys)
c.599T>A (p.Met200Lys)
n.875T>A (p.Met292Lys)
n.427T>A
n.863T>A (p.Met288Lys)
n.240T>A
14g.73206392T>CCA390304699PSEN1c.875T>C (p.Met292Thr)
c.863T>C (p.Met288Thr)
c.599T>C (p.Met200Thr)
n.875T>C (p.Met292Thr)
n.427T>C
n.863T>C (p.Met288Thr)
n.240T>C
14g.73206392T>GCA390304701PSEN1c.875T>G (p.Met292Arg)
c.863T>G (p.Met288Arg)
c.599T>G (p.Met200Arg)
n.875T>G (p.Met292Arg)
n.427T>G
n.863T>G (p.Met288Arg)
n.240T>G
14g.73206393G>ACA390304703PSEN1c.876G>A (p.Met292Ile)
c.864G>A (p.Met288Ile)
c.600G>A (p.Met200Ile)
n.876G>A (p.Met292Ile)
n.428G>A
n.864G>A (p.Met288Ile)
n.241G>A
gnomAD
14g.73206393G>CCA390304706PSEN1c.876G>C (p.Met292Ile)
c.864G>C (p.Met288Ile)
c.600G>C (p.Met200Ile)
n.876G>C (p.Met292Ile)
n.428G>C
n.864G>C (p.Met288Ile)
n.241G>C
14g.73206393G=CA2146490264PSEN1c.876G= (p.Met292=)
c.864G= (p.Met288=)
c.600G= (p.Met200=)
n.876G= (p.Met292=)
n.428G=
n.864G= (p.Met288=)
n.241G=
14g.73206393G>TCA390304708PSEN1c.876G>T (p.Met292Ile)
c.864G>T (p.Met288Ile)
c.600G>T (p.Met200Ile)
n.876G>T (p.Met292Ile)
n.428G>T
n.864G>T (p.Met288Ile)
n.241G>T
14g.73206394G>ACA390304715PSEN1c.877G>A (p.Val293Met)
c.865G>A (p.Val289Met)
c.601G>A (p.Val201Met)
n.877G>A (p.Val293Met)
n.429G>A
n.865G>A (p.Val289Met)
n.242G>A
gnomAD
14g.73206394G>CCA390304711PSEN1c.877G>C (p.Val293Leu)
c.865G>C (p.Val289Leu)
c.601G>C (p.Val201Leu)
n.877G>C (p.Val293Leu)
n.429G>C
n.865G>C (p.Val289Leu)
n.242G>C
14g.73206394G=CA2146490266PSEN1c.877G= (p.Val293=)
c.865G= (p.Val289=)
c.601G= (p.Val201=)
n.877G= (p.Val293=)
n.429G=
n.865G= (p.Val289=)
n.242G=

Number of alleles fetched