Hsu S, Pimenova AA, Hayes K, Villa JA, Rosene MJ, Jere M, Goate AM, Karch CM. Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2. Neurobiol Dis. 2020 Jun;139:104817. Epub 2020 Feb 19 PubMed.
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Mutations
- APP E665D
- APP A713T
- APP A713V
- APP K724N (Belgian)
- APP H733P
- PSEN2 R29H
- PSEN2 G34S
- PSEN2 R62C
- PSEN1 N32N
- PSEN1 R35Q
- PSEN1 M146V
- PSEN1 F175S
- PSEN1 V191A
- PSEN1 E318G
- PSEN1 R358Q
- PSEN1 I439V
- PSEN2 R62H
- PSEN2 R71W
- PSEN2 A85V
- PSEN2 S130L
- PSEN2 V139M
- PSEN2 L143H
- PSEN2 R163H
- PSEN2 M174V
- PSEN2 A252T
- PSEN2 P334R
- PSEN2 V393M
- PSEN2 D439A
- APP G708G
- PSEN2 P69A
- PSEN1 D40del (delGAC)
- PSEN1 G378fs
- PSEN2 E126fs
- PSEN1 H163P
- PSEN2 V214L
- APP K496Q
- APP P620L
- PSEN1 F176L
- PSEN1 I168T
- PSEN2 A237V
- APP Y538H
- APP A201V
- APP V562I
- APP E599K
- PSEN2 I235F
- PSEN1 A396T
- PSEN1 R108Q
- PSEN1 R352C
- APP R468H
- PSEN2 P334A
- PSEN1 T99A
- PSEN1 H131R
- APP A500T
- APP T600M
- PSEN2 V101M
- PSEN2 L238F
- APP E246K
- APP A479S
- APP D243N
- APP A235V
- PSEN1 E69D
- PSEN1 D40del (delACG)
- APP P620A
- PSEN2 P123L
- PSEN2 K82R
- PSEN2 P348L
- PSEN2 T18M
- PSEN1 M84V
- PSEN1 Q127_R128delinsG
- PSEN2 T421M
- PSEN2 A258V
- PSEN2 R284G
- APP V340M
- APP S614G
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