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.73206470A=CA2146490373PSEN1c.953A= (p.Glu318=)
c.941A= (p.Glu314=)
c.677A= (p.Glu226=)
n.953A= (p.Glu318=)
n.505A=
n.941A= (p.Glu314=)
n.318A=
14g.73206470A>CCA390305069PSEN1c.953A>C (p.Glu318Ala)
c.941A>C (p.Glu314Ala)
c.677A>C (p.Glu226Ala)
n.953A>C (p.Glu318Ala)
n.505A>C
n.941A>C (p.Glu314Ala)
n.318A>C
14g.73206470A>GCA225145PSEN1c.953A>G (p.Glu318Gly)
c.941A>G (p.Glu314Gly)
c.677A>G (p.Glu226Gly)
n.953A>G (p.Glu318Gly)
n.505A>G
n.941A>G (p.Glu314Gly)
n.318A>G
ClinVar dbSNP ExAC gnomAD
14g.73206470A>TCA390305072PSEN1c.953A>T (p.Glu318Val)
c.941A>T (p.Glu314Val)
c.677A>T (p.Glu226Val)
n.953A>T (p.Glu318Val)
n.505A>T
n.941A>T (p.Glu314Val)
n.318A>T
14g.73206471A>CCA390305074PSEN1c.954A>C (p.Glu318Asp)
c.942A>C (p.Glu314Asp)
c.678A>C (p.Glu226Asp)
n.954A>C (p.Glu318Asp)
n.506A>C
n.942A>C (p.Glu314Asp)
n.319A>C
14g.73206471A>GCA487097587PSEN1c.954A>G (p.Glu318=)
c.942A>G (p.Glu314=)
c.678A>G (p.Glu226=)
n.954A>G (p.Glu318=)
n.506A>G
n.942A>G (p.Glu314=)
n.319A>G
14g.73206471A>TCA390305077PSEN1c.954A>T (p.Glu318Asp)
c.942A>T (p.Glu314Asp)
c.678A>T (p.Glu226Asp)
n.954A>T (p.Glu318Asp)
n.506A>T
n.942A>T (p.Glu314Asp)
n.319A>T
14g.73206472A>CCA390305079PSEN1c.955A>C (p.Ser319Arg)
c.943A>C (p.Ser315Arg)
c.679A>C (p.Ser227Arg)
n.955A>C (p.Arg319=)
n.507A>C
n.943A>C (p.Arg315=)
n.320A>C
14g.73206472A>GCA390305081PSEN1c.955A>G (p.Ser319Gly)
c.943A>G (p.Ser315Gly)
c.679A>G (p.Ser227Gly)
n.955A>G (p.Arg319Gly)
n.507A>G
n.943A>G (p.Arg315Gly)
n.320A>G
14g.73206472A>TCA390305083PSEN1c.955A>T (p.Ser319Cys)
c.943A>T (p.Ser315Cys)
c.679A>T (p.Ser227Cys)
n.955A>T (p.Arg319Ter)
n.507A>T
n.943A>T (p.Arg315Ter)
n.320A>T
n.955A>T (p.Arg319Trp)
14g.73206473G>ACA390305087PSEN1c.955+1G>A (p.=)
c.943+1G>A (p.=)
c.679+1G>A (p.=)
n.955+1G>A (p.=)
n.507+1G>A
n.943+1G>A (p.=)
n.320+1G>A
14g.73206473G>CCA390305085PSEN1c.955+1G>C (p.=)
c.943+1G>C (p.=)
c.679+1G>C (p.=)
n.955+1G>C (p.=)
n.507+1G>C
n.943+1G>C (p.=)
n.320+1G>C
14g.73206473G>TCA390305084PSEN1c.955+1G>T (p.=)
c.943+1G>T (p.=)
c.679+1G>T (p.=)
n.955+1G>T (p.=)
n.507+1G>T
n.943+1G>T (p.=)
n.320+1G>T
14g.73206474T>ACA390305089PSEN1c.955+2T>A (p.=)
c.943+2T>A (p.=)
c.679+2T>A (p.=)
n.955+2T>A (p.=)
n.507+2T>A
n.943+2T>A (p.=)
n.320+2T>A
14g.73206474T>CCA390305090PSEN1c.955+2T>C (p.=)
c.943+2T>C (p.=)
c.679+2T>C (p.=)
n.955+2T>C (p.=)
n.507+2T>C
n.943+2T>C (p.=)
n.320+2T>C
14g.73206474T>GCA390305093PSEN1c.955+2T>G (p.=)
c.943+2T>G (p.=)
c.679+2T>G (p.=)
n.955+2T>G (p.=)
n.507+2T>G
n.943+2T>G (p.=)
n.320+2T>G
14g.73206475A=CA2146490378PSEN1c.955+3A= (p.=)
c.943+3A= (p.=)
c.679+3A= (p.=)
n.955+3A= (p.=)
n.507+3A=
n.943+3A= (p.=)
n.320+3A=
14g.73206475A>GCA7256863PSEN1c.955+3A>G (p.=)
c.943+3A>G (p.=)
c.679+3A>G (p.=)
n.955+3A>G (p.=)
n.507+3A>G
n.943+3A>G (p.=)
n.320+3A>G
dbSNP ExAC gnomAD
14g.73206477G>ACA262616879PSEN1c.955+5G>A (p.=)
c.943+5G>A (p.=)
c.679+5G>A (p.=)
n.955+5G>A (p.=)
n.507+5G>A
n.943+5G>A (p.=)
n.320+5G>A
dbSNP
14g.73206477G=CA2146490380PSEN1c.955+5G= (p.=)
c.943+5G= (p.=)
c.679+5G= (p.=)
n.955+5G= (p.=)
n.507+5G=
n.943+5G= (p.=)
n.320+5G=
14g.73206478T=CA2146490382PSEN1c.955+6T= (p.=)
c.943+6T= (p.=)
c.679+6T= (p.=)
n.955+6T= (p.=)
n.507+6T=
n.943+6T= (p.=)
n.320+6T=
14g.73206479A=CA2146490383PSEN1c.955+7A= (p.=)
c.943+7A= (p.=)
c.679+7A= (p.=)
n.955+7A= (p.=)
n.507+7A=
n.943+7A= (p.=)
n.320+7A=
14g.73206479A>CCA964629222PSEN1c.955+7A>C (p.=)
c.943+7A>C (p.=)
c.679+7A>C (p.=)
n.955+7A>C (p.=)
n.507+7A>C
n.943+7A>C (p.=)
n.320+7A>C
14g.73206480_73206481insGAGAAGAACA614998803PSEN1c.955+8_955+9insGAGAAGAA (p.=)
c.943+8_943+9insGAGAAGAA (p.=)
c.679+8_679+9insGAGAAGAA (p.=)
n.955+8_955+9insGAGAAGAA (p.=)
n.507+8_507+9insGAGAAGAA
n.943+8_943+9insGAGAAGAA (p.=)
n.320+8_320+9insGAGAAGAA
dbSNP gnomAD
14g.73206480_73206481delinsACCA2146490385PSEN1c.955+8_955+9delinsAC (p.=)
c.943+8_943+9delinsAC (p.=)
c.679+8_679+9delinsAC (p.=)
n.955+8_955+9delinsAC (p.=)
n.507+8_507+9delinsAC
n.943+8_943+9delinsAC (p.=)
n.320+8_320+9delinsAC
14g.73206481delCA7256864PSEN1c.955+9del (p.=)
c.943+9del (p.=)
c.679+9del (p.=)
n.955+9del (p.=)
n.507+9del
n.943+9del (p.=)
n.320+9del
dbSNP ExAC gnomAD
14g.73206483T>GCA7256865PSEN1c.955+11T>G (p.=)
c.943+11T>G (p.=)
c.679+11T>G (p.=)
n.955+11T>G (p.=)
n.507+11T>G
n.943+11T>G (p.=)
n.320+11T>G
dbSNP ExAC gnomAD
14g.73206483T=CA2146490390PSEN1c.955+11T= (p.=)
c.943+11T= (p.=)
c.679+11T= (p.=)
n.955+11T= (p.=)
n.507+11T=
n.943+11T= (p.=)
n.320+11T=
14g.73206486A=CA2146490393PSEN1c.955+14A= (p.=)
c.943+14A= (p.=)
c.679+14A= (p.=)
n.955+14A= (p.=)
n.507+14A=
n.943+14A= (p.=)
n.320+14A=
14g.73206486A>GCA262616888PSEN1c.955+14A>G (p.=)
c.943+14A>G (p.=)
c.679+14A>G (p.=)
n.955+14A>G (p.=)
n.507+14A>G
n.943+14A>G (p.=)
n.320+14A>G
dbSNP
14g.73206492T>CCA2146490395PSEN1c.955+20T>C (p.=)
c.943+20T>C (p.=)
c.679+20T>C (p.=)
n.955+20T>C (p.=)
n.507+20T>C
n.943+20T>C (p.=)
n.320+20T>C
14g.73206492T=CA2146490396PSEN1c.955+20T= (p.=)
c.943+20T= (p.=)
c.679+20T= (p.=)
n.955+20T= (p.=)
n.507+20T=
n.943+20T= (p.=)
n.320+20T=
14g.73206494A=CA2146490398PSEN1c.955+22A= (p.=)
c.943+22A= (p.=)
c.679+22A= (p.=)
n.955+22A= (p.=)
n.507+22A=
n.943+22A= (p.=)
n.320+22A=
14g.73206494A>GCA7256866PSEN1c.955+22A>G (p.=)
c.943+22A>G (p.=)
c.679+22A>G (p.=)
n.955+22A>G (p.=)
n.507+22A>G
n.943+22A>G (p.=)
n.320+22A>G
dbSNP ExAC gnomAD
14g.73206496A=CA2146490402PSEN1c.955+24A= (p.=)
c.943+24A= (p.=)
c.679+24A= (p.=)
n.955+24A= (p.=)
n.507+24A=
n.943+24A= (p.=)
n.320+24A=
14g.73206496A>GCA2146490403PSEN1c.955+24A>G (p.=)
c.943+24A>G (p.=)
c.679+24A>G (p.=)
n.955+24A>G (p.=)
n.507+24A>G
n.943+24A>G (p.=)
n.320+24A>G
14g.73206497T>CCA2146490405PSEN1c.955+25T>C (p.=)
c.943+25T>C (p.=)
c.679+25T>C (p.=)
n.955+25T>C (p.=)
n.507+25T>C
n.943+25T>C (p.=)
n.320+25T>C
14g.73206497T=CA2146490404PSEN1c.955+25T= (p.=)
c.943+25T= (p.=)
c.679+25T= (p.=)
n.955+25T= (p.=)
n.507+25T=
n.943+25T= (p.=)
n.320+25T=
14g.73206498C=CA2146490408PSEN1c.955+26C= (p.=)
c.943+26C= (p.=)
c.679+26C= (p.=)
n.955+26C= (p.=)
n.507+26C=
n.943+26C= (p.=)
n.320+26C=
14g.73206498C>TCA7256867PSEN1c.955+26C>T (p.=)
c.943+26C>T (p.=)
c.679+26C>T (p.=)
n.955+26C>T (p.=)
n.507+26C>T
n.943+26C>T (p.=)
n.320+26C>T
dbSNP ExAC gnomAD
14g.73206503T>ACA7256868PSEN1c.955+31T>A (p.=)
c.943+31T>A (p.=)
c.679+31T>A (p.=)
n.955+31T>A (p.=)
n.507+31T>A
n.943+31T>A (p.=)
n.320+31T>A
dbSNP ExAC gnomAD
14g.73206503T=CA2146490412PSEN1c.955+31T= (p.=)
c.943+31T= (p.=)
c.679+31T= (p.=)
n.955+31T= (p.=)
n.507+31T=
n.943+31T= (p.=)
n.320+31T=
14g.73206509A=CA2146490414PSEN1c.955+37A= (p.=)
c.943+37A= (p.=)
c.679+37A= (p.=)
n.955+37A= (p.=)
n.507+37A=
n.943+37A= (p.=)
n.320+37A=
14g.73206509A>GCA964629223PSEN1c.955+37A>G (p.=)
c.943+37A>G (p.=)
c.679+37A>G (p.=)
n.955+37A>G (p.=)
n.507+37A>G
n.943+37A>G (p.=)
n.320+37A>G
14g.73206511G>ACA7256869PSEN1c.955+39G>A (p.=)
c.943+39G>A (p.=)
c.679+39G>A (p.=)
n.955+39G>A (p.=)
n.507+39G>A
n.943+39G>A (p.=)
n.320+39G>A
dbSNP ExAC gnomAD
14g.73206511G=CA2146490416PSEN1c.955+39G= (p.=)
c.943+39G= (p.=)
c.679+39G= (p.=)
n.955+39G= (p.=)
n.507+39G=
n.943+39G= (p.=)
n.320+39G=
14g.73206512G>ACA7256870PSEN1c.955+40G>A (p.=)
c.943+40G>A (p.=)
c.679+40G>A (p.=)
n.955+40G>A (p.=)
n.507+40G>A
n.943+40G>A (p.=)
n.320+40G>A
dbSNP ExAC gnomAD

Number of alleles fetched