Bellenguez C, Charbonnier C, Grenier-Boley B, Quenez O, Le Guennec K, Nicolas G, Chauhan G, Wallon D, Rousseau S, Richard AC, Boland A, Bourque G, Munter HM, Olaso R, Meyer V, Rollin-Sillaire A, Pasquier F, Letenneur L, Redon R, Dartigues JF, Tzourio C, Frebourg T, Lathrop M, Deleuze JF, Hannequin D, Genin E, Amouyel P, Debette S, Lambert JC, Campion D, CNR MAJ collaborators. Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls. Neurobiol Aging. 2017 Nov;59:220.e1-220.e9. Epub 2017 Jul 14 PubMed.

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Mutations

  1. SORL1 S124R (C>A)
  2. SORL1 A172V
  3. SORL1 R490W
  4. SORL1 R1159W
  5. SORL1 D1161E
  6. SORL1 S1167Y
  7. SORL1 G1220R
  8. SORL1 H1255Y
  9. SORL1 Q1269Ter
  10. SORL1 M1294T
  11. SORL1 G1305E
  12. SORL1 c.3947-3_3947-2insG
  13. SORL1 G1351S
  14. SORL1 Q1373H
  15. SORL1 N1378S
  16. SORL1 N1422S
  17. SORL1 c.4519+1G>A
  18. SORL1 D1545E
  19. SORL1 S1550G
  20. SORL1 D1566H
  21. SORL1 E1604G
  22. SORL1 P1654S
  23. SORL1 R1655Ter
  24. SORL1 R1729G
  25. SORL1 P1914S
  26. SORL1 Y1915C
  27. SORL1 G1944Efs
  28. SORL1 L2119P
  29. SORL1 S2175R (C>A)
  30. SORL1 H2176R
  31. SORL1 M105T
  32. SORL1 S124R (C>G)
  33. SORL1 D140N
  34. SORL1 Y141C
  35. SORL1 R268Ter
  36. SORL1 R303W
  37. SORL1 R332W
  38. SORL1 N371T
  39. SORL1 Y391C
  40. SORL1 R416Q
  41. SORL1 G447Rfs
  42. SORL1 C473S
  43. SORL1 R490Q
  44. SORL1 G511R
  45. SORL1 E560K
  46. SORL1 S577P
  47. SORL1 S636T
  48. SORL1 H647Tfs
  49. SORL1 D734N
  50. SORL1 A743V
  51. SORL1 V750I
  52. SORL1 V884M
  53. SORL1 T1002M
  54. SORL1 Q1074E
  55. SORL1 F1099L
  56. SORL1 I1116V
  57. SORL1 R1207Q
  58. SORL1 W1216Ter
  59. SORL1 D1219G
  60. SORL1 R1243C
  61. SORL1 T1276M
  62. SORL1 F1291L
  63. SORL1 G1298R
  64. SORL1 R1303C
  65. SORL1 A1310V
  66. SORL1 D1389V
  67. SORL1 T1435S
  68. SORL1 P1454S
  69. SORL1 V1459I
  70. SORL1 C1478Ter
  71. SORL1 G1536S
  72. SORL1 W1563C
  73. SORL1 P1654L
  74. SORL1 P1675S
  75. SORL1 G1681D
  76. SORL1 R1729H
  77. SORL1 N1809S
  78. SORL1 H1813R
  79. SORL1 H1813Q
  80. SORL1 Y1816C
  81. SORL1 W1821Ter
  82. SORL1 R1866W
  83. SORL1 F1873Y
  84. SORL1 V1967I (I1967V)
  85. SORL1 D2065V
  86. SORL1 K2083R
  87. SORL1 V2097I
  88. SORL1 T2134M
  89. SORL1 S2175R (C>G)