Xiao X, Liu H, Liu X, Zhang W, Zhang S, Jiao B. APP, PSEN1, and PSEN2 Variants in Alzheimer's Disease: Systematic Re-evaluation According to ACMG Guidelines. Front Aging Neurosci. 2021;13:695808. Epub 2021 Jun 18 PubMed.
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Mutations
- PSEN1 R35Q
- PSEN1 A79V
- PSEN1 V82L
- PSEN1 L85P
- PSEN1 V89L (G>T)
- PSEN1 C92S
- PSEN1 V96F
- PSEN1 V94M
- PSEN1 V97L
- PSEN1 F105I
- PSEN1 F105V
- PSEN1 F105L
- PSEN1 L113Q
- PSEN1 L113P
- PSEN1 Y115H
- PSEN1 Y115D
- PSEN1 Y115C
- PSEN1 T116N
- PSEN1 T116I
- PSEN1 P117A
- PSEN1 P117S
- PSEN1 P117R
- PSEN1 P117L
- PSEN1 E120K
- PSEN1 E120G
- PSEN1 E120D (A>C)
- PSEN1 E123K
- PSEN1 N135D
- PSEN1 N135S
- PSEN1 A136G
- PSEN1 M139V
- PSEN1 M139K
- PSEN1 M139T
- PSEN1 M139I (G>C)
- PSEN1 M139I (G>A)
- PSEN1 I143V
- PSEN1 I143F
- PSEN1 I143N
- PSEN1 I143T
- PSEN1 I143M
- PSEN1 M146L (A>C)
- PSEN1 M146V
- PSEN1 M146L (A>T)
- PSEN1 M146I (G>A)
- PSEN1 M146I (G>C)
- PSEN1 T147I
- PSEN1 L153V
- PSEN1 Y154N
- PSEN1 Y154C
- PSEN1 Y156delinsFIY
- PSEN1 H163Y
- PSEN1 H163R
- PSEN1 W165G
- PSEN1 L166del
- PSEN1 L166H
- PSEN1 L166R
- PSEN1 L171P
- PSEN1 S169P
- PSEN1 S169L
- PSEN1 S170F
- PSEN1 L173W
- PSEN1 L173F (G>C)
- PSEN1 L174M
- PSEN1 L174R
- PSEN1 F175S
- PSEN1 F177L
- PSEN1 F177S
- PSEN1 S178P
- PSEN1 G183V
- PSEN1 E184D
- PSEN1 V191A
- PSEN1 G206S
- PSEN1 G206D
- PSEN1 G206V
- PSEN1 G209R
- PSEN1 G209E
- PSEN1 G209V
- PSEN1 I213F
- PSEN1 I213T
- PSEN1 H214D
- PSEN1 H214Y
- PSEN1 G217R
- PSEN1 G217D
- PSEN1 L219F
- PSEN1 L219P
- PSEN1 Q222R
- PSEN1 Q222H
- PSEN1 Q223R
- PSEN1 L226R
- PSEN1 I229F
- PSEN1 A231T
- PSEN1 A231V
- PSEN1 M233L (A>C)
- PSEN1 M233V
- PSEN1 M233L (A>T)
- PSEN1 M233T
- PSEN1 M233I (G>C)
- PSEN1 L235V
- PSEN1 L235P
- PSEN1 F237I
- PSEN1 F237L
- PSEN1 I238M
- PSEN1 K239N
- PSEN1 T245P
- PSEN1 A246E
- PSEN1 L248R
- PSEN1 L250V
- PSEN1 L250S
- PSEN1 Y256S
- PSEN1 A260V
- PSEN1 V261L
- PSEN1 V261F
- PSEN1 L262F
- PSEN1 C263R
- PSEN1 C263F
- PSEN1 P264L
- PSEN1 G266S
- PSEN1 P267S
- PSEN1 P267L
- PSEN1 R269G
- PSEN1 R269H
- PSEN1 L271V
- PSEN1 V272A
- PSEN1 E273A
- PSEN1 T274R
- PSEN1 R278K
- PSEN1 R278T
- PSEN1 R278I
- PSEN1 R278S
- PSEN1 E280A (Paisa)
- PSEN1 E280G
- PSEN1 L282V
- PSEN1 L282F
- PSEN1 L282R
- PSEN1 P284S
- PSEN1 P284L
- PSEN1 A285V
- PSEN1 L286P
- PSEN1 T291P
- PSEN1 E318G
- PSEN1 R352dup
- PSEN1 R358Q
- PSEN1 S365A
- PSEN1 S365Y
- PSEN1 D333G
- PSEN1 R377M
- PSEN1 G378E
- PSEN1 G378V
- PSEN1 G384A
- PSEN1 F386S
- PSEN1 S390I
- PSEN1 V391F
- PSEN1 L392V
- PSEN1 L392P
- PSEN1 G394V
- PSEN1 N405S
- PSEN1 A409T
- PSEN1 C410Y
- PSEN1 V412I
- PSEN1 L381V
- PSEN1 L418F
- PSEN1 L420R
- PSEN1 L424V
- PSEN1 L424F
- PSEN1 L424H
- PSEN1 L424R
- PSEN1 A426P
- PSEN1 A431E
- PSEN1 A434C
- PSEN1 L435F
- PSEN1 P436S
- PSEN1 P436Q
- PSEN1 I439V
- PSEN1 I439S
- PSEN1 T440del
- PSEN1 S290_S319delinsC (ΔE9Finn)
- PSEN1 c.869-22_869-23ins18 (ΔE9)
- PSEN1 S290_S319delinsC G>A (ΔE9)
- PSEN1 L113_I114insT (Intron 4)
- PSEN1 I83_M84del
- PSEN1 I168del (TATdel)
- PSEN1 S169del (S170del)
- PSEN1 T354I
- PSEN1 L286V
- PSEN1 S212Y
- PSEN1 L381F
- PSEN1 L166P
- PSEN1 M146I (G>T)
- PSEN1 A431V
- PSEN1 D40del (delGAC)
- PSEN1 E120D (A>T)
- PSEN1 A275V
- PSEN1 A434T
- PSEN1 I168del (TTAdel)
- PSEN1 L248P
- PSEN1 F105C
- PSEN1 G378fs
- PSEN1 T147P
- PSEN1 H163P
- PSEN1 L166V
- PSEN1 S230R
- PSEN1 S230I
- PSEN1 I168T
- PSEN1 T116R
- PSEN1 L235R
- PSEN1 L226F
- PSEN1 I202F
- PSEN1 L150P
- PSEN1 E184G
- PSEN1 M233I (G>A)
- PSEN1 L262V
- PSEN1 E273G
- PSEN1 R377W
- PSEN1 L134R
- PSEN1 A396T
- PSEN1 R108Q
- PSEN1 R352C
- PSEN1 T99A
- PSEN1 H131R
- PSEN1 L219R
- PSEN1 L173F (G>T)
- PSEN1 I83T
- PSEN1 S290_S319delinsC A>G (ΔE9)
- PSEN1 A231P
- PSEN1 S390N
- PSEN1 I437V
- PSEN1 A246P
- PSEN1 A164V
- PSEN1 I238_K239insI
- PSEN1 D40del (delACG)
- PSEN1 E280K
- PSEN1 I408T
- PSEN1 P267A
- PSEN1 H214N
- PSEN1 R220P
- PSEN1 G209A
- PSEN1 N135Y
- PSEN1 F386I
- PSEN1 F388L
- PSEN1 S290_R377delinsW (Δ9-10) (Δ9-10)
- PSEN1 V142F
- PSEN1 M84V
- PSEN1 L232P
- PSEN1 P88L
- PSEN1 V89L (G>C)
- PSEN1 S230N
- PSEN1 I416T
- PSEN1 W165C (G>T)
- PSEN1 F283L
- PSEN1 I213L
- PSEN1 L174del
- PSEN1 S170P
- PSEN1 V391G
- PSEN1 Q222P
- PSEN1 S132A
- PSEN1 T291A
- PSEN1 G417S
- PSEN1 L250F
- PSEN1 K311R
- PSEN1 Q127_R128delinsG
- PSEN1 M139L
- PSEN1 R157S
- PSEN1 L173S
- PSEN1 L262S
- PSEN1 F237C
- PSEN1 M84T
- PSEN1 P88H
- PSEN1 G111W
- PSEN1 P117Q
- PSEN1 I180N
- PSEN1 F205_G206delinsC
- PSEN1 M210R
- PSEN1 L241R
- PSEN1 A360T
- PSEN1 V142I
- PSEN1 P433S
- PSEN1 T122A
- PSEN1 V393F
- PSEN1 A137T
- PSEN1 W203C
- PSEN1 I249L
- PSEN1 T119I
- PSEN1 G111V
- PSEN1 G417A
- PSEN1 L424P
- PSEN1 F386L
- PSEN1 I227V
- PSEN1 R42L
- PSEN1 P303L
- PSEN1 Q15H
- PSEN1 N39Y
- PSEN1 V261I
- PSEN1 Y256N
- PSEN1 H214R
- PSEN1 T116_P117delinsST
- PSEN1 Y159F
- PSEN1 P242Lfs
- PSEN1 V272D
- PSEN1 F175del
- PSEN1 Y389S
- PSEN1 L282P
- PSEN1 Y389H
- PSEN1 Y159C
- PSEN1 A285S
- PSEN1 A260G
- PSEN1 P355S
- PSEN1 R41S
- PSEN1 V103G
- PSEN1 P49L
- PSEN1 G371C
- PSEN1 G378R
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