Gene-Exon | AA change | rs ID | Codonchange | AD&FTDa | Alzheimer's disease cases | Controls | ||
---|---|---|---|---|---|---|---|---|
 |  |  |  |  | Count (%) | AAO range, years | Diagnosesb | Count (%) |
GRN-8 | Ile256IlefsX27 | - | [-/CC] | - | 1/176 (0.57) | 60.5 | 1 FL | 0/459 (0) |
MAPT-10 | GTC-aTC | 149280278 | V287I | - | 2/176 (1.14) | 64.5-70.5 | 1 SE and 1 FL | 0/534 (0) |
MAPT-4A | TCG-TtG | 73314997 | S318L | - | 1/176 (0.57) | 64.5 | 1 SE | 0/139 (0) |
MAPT-4A | GGG-aGG | 76375268 | G213R | - | 1/176 (0.57) | 64.5 | 1 SE | 0/139 (0) |
MAPT-4A | GTC-GgC | 141120474 | V224G | - | 3/176 (1.7) | 58.5-72.5 | 1 FE and 2 FL | 1/139 (0.72) |
MAPT-4A | CAA-CgA | 63750072 | Q230R | - | 18/176 (10.23) | 50.5-83.5 | 1 AC, 2 FE, 2 FL, and 13 SE | 8/139 (5.8) |
MAPT-4A | GCC-GtC | - | A297V | - | 1/176 (0.57) | 59.5 | 1 FE | 0/139 (0) |
MAPT-7 | GCC-aCC | 143624519 | A152T | - | 2/176 (1.14) | 57.5 | 1 AC and 1 SE | 0/139 (0) |
PSEN1-5 | ATG-AcG | 63751106 | M139T | Pathogenic | 1/176 (0.57) | 47.5 | 1 SE | 0/459 (0) |
PSEN1-6 | TTG-TTt | - | L173F | Pathogenic | 1/176 (0.57) | 50.5 | 1 SE | 0/459 (0) |
PSEN1-9 | GAA-GgA | 17125721 | E318G | Not pathogenic | 2/176 (1.14) | 56.5-65.5 | 2 SE | 3/139 (2.2) |
PSEN1-11 | CTG-gTG | 63751416 | L392V | Pathogenic | 1/176 (0.57) | 42.5 | 1 FE | Not available |