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

  1. APP A713V
  2. PSEN2 R62C
  3. PSEN1 M146V
  4. PSEN1 V191A
  5. PSEN1 E318G
  6. PSEN1 R358Q
  7. PSEN1 I439V
  8. PSEN2 R62H
  9. PSEN2 S130L
  10. PSEN2 A252T
  11. PSEN2 V393M
  12. PSEN2 D439A
  13. PSEN1 D40del (delGAC)
  14. PSEN1 G378fs
  15. APP Y538H
  16. PSEN2 I235F
  17. PSEN1 A396T
  18. PSEN1 R108Q
  19. PSEN1 T99A
  20. PSEN1 H131R
  21. PSEN2 L238F
  22. PSEN1 E69D
  23. PSEN1 D40del (delACG)
  24. PSEN2 P348L
  25. PSEN1 M84V
  26. PSEN1 Q127_R128delinsG
  27. PSEN2 R284G