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variant n male_female age_onset_mean_sd age_onset_range positive_family_history_count_percent duration_mean_sd_months duration_range_months codon_129 codon_219 pswcs_on_eeg hyperintensities_on_mri_percent positive_14_3_3_protein_percent
Insertion 8 4/4 51.0 ± 12.0 (26-68) 5 (63) 27.8 ± 17.7 (3-57) MM 6; MV 1 EE 6; KK 1 3/8 (38) 2/7 (29) 0/1 (0)
P102L 83 38/45 55.5 ± 10.3 (22-75) 69 (83) 48.4 ± 35.8 (2-186) MM 67; MV 6 EE 70; EK 2 11/72 (15) 32/76 (42) 13/34 (38)
P105L 12 7/5 46.9 ± 8.4 (31-61) 11 (92) 90.2 ± 40.4 (25-184) MV 11 EE 7 1/10 (10) 1/11 (9) 1/2 (50)
D178N-129M 4 3/1 54.5 ± 5.5 (46-61) None 8.5 ± 4.4 (2-13) MM 4 EE 4 0/4 (0) 1/4 (25) 1/2 (50)
D178N-129V 1 1/0 74 None 24 MV 1 EE 1 0/1 (0) 0/1 (0) 1/1 (100)
V180I 218 84/134 77.4 ± 6.8 (44-93) 5 (2) 16.4 ± 14.5 (0-70) MM 162; MV 54 EE 210 19/203 (9) 212/213 (99) 110/140 (79)
E200K 63 30/33 61.1 ± 9.9 (31-83) 28 (44) 5.0 ± 6.0 (1-32) MM 58; MV 3 EE 58; EK 3 56/63 (89) 56/59 (95) 29/31 (94)
V203I 3 2/1 73 None 3.7 ± 2.1 (1-6) MM 3 EE 3 3/3 (100) 2/2 (100) 1/1 (100)
R208H 1 0/1 74 None 3 MM 1 EE 1 1/1 (100) 1/1 (100) 1/1 (100)
V210I 1 0/1 55 None 3 MM 1 EE 1 1/1 (100) 1/1 (100) not done
M232R 63 32/31 64.4 ± 10.9 (15-82) 2 (3) 8.6 ± 12.7 (0-78) MM 60; MV 2 EE 61; EK 1 46/61 (75) 55/60 (92) 31/43 (72)
V180I_and_M232R_in_trans 4 2/2 71.3 ± 3.6 (65-74) None 21.8 ± 17.7 (1-47) MM 4 EE 4 0/4 (0) 4/4 (100) 0/1 (0)