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Table 1 GBA genotype distribution in type 1 GD

From: Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

Genotype Frequency Percent
N370S/L444P 117 31.6
N370S/N370S 62 16.8
N370S/c.84insG 10 2.7
G377S/D409H 10 2.7
N370S/G202R 9 2.4
N370S/c.1263_1317del55 8 2.2
N370S/R120W 6 1.6
N370S/G195W 5 1.3
N370S/Rec all gene 5 1.3
N370S/RecNciI 5 1.3
N370S/T134P 5 1.3
N396T/N396T 5 1.3
G377S/G377S 4 1.1
N370S/G377S 4 1.1
N370S/N396T 4 1.1
N370S/R47X 4 1.1
N370S/RecTL 4 1.1
N370S/Y313H 4 1.1
N370S/F109V 3 < 1
N370S/L336P 3 < 1
N370S/[N188S;E326K] 3 < 1
N370S/P391L 3 < 1
N370S/R163X 3 < 1
N370S/R257X 3 < 1
N370S/R463C 3 < 1
N370S/[c.(-203)A > G;IVS4-2a > g] 3 < 1
N370S/c.500insT 3 < 1
N370S/[E326K;L444P] 2 < 1
N370S/G325W 2 < 1
N370S/IVS2+1 2 < 1
N370S/M123T 2 < 1
N370S/[RecNciI;c.1263_1317del55] 2 < 1
N370S/V15M 2 < 1
N370S/V191G 2 < 1
N370S/W(-4)X 2 < 1
N370S/Y412H 2 < 1
N370S/c.1439_1445del7 2 < 1
D409H/[N188S;E326K] 1 < 1
H311R/R359Q 1 < 1
L444P/G377S 1 < 1
L444P/L444P 1 < 1
N370S/G113E 1 < 1
N370S/IVS5+1 g > t 1 < 1
N370S/M123K 1 < 1
N370S/N188S 1 < 1
N370S/Q169X 1 < 1
N370S/R257Q 1 < 1
N370S/RecTL 4 1.1
N370S/Y313H 4 1.1
N370S/F109V 3 < 1
N370S/L336P 3 < 1
N370S/[N188S;E326K] 3 < 1
N370S/P391L 3 < 1
N370S/R163X 3 < 1
N370S/R257X 3 < 1
N370S/R463C 3 < 1
N370S/[c.(-203)A > G;IVS4-2a > g] 3 < 1
N370S/c.500insT 3 < 1
N370S/[E326K;L444P] 2 < 1
N370S/G325W 2 < 1
N370S/IVS2+1 2 < 1
N370S/M123T 2 < 1
N370S/[RecNciI;c.1263_1317del55] 2 < 1
N370S/V15M 2 < 1
N370S/V191G 2 < 1
N370S/W(-4)X 2 < 1
N370S/Y412H 2 < 1
N370S/c.1439_1445del7 2 < 1
D409H/[N188S;E326K] 1 < 1
H311R/R359Q 1 < 1
L444P/G377S 1 < 1
L444P/L444P 1 < 1
N370S/G113E 1 < 1
N370S/IVS5+1 g > t 1 < 1
N370S/M123K 1 < 1
N370S/N188S 1 < 1
N370S/Q169X 1 < 1
N370S/R257Q 1 < 1
N370S/R285C 1 < 1
N370S/R359Q 1 < 1
N370S/R359X 1 < 1
N370S/R395C 1 < 1
N370S/Rec(int2) 1 < 1
N370S/[RecTL;c.1263_1317del55] 1 < 1
N370S/S364R 1 < 1
N370S/W(-4X) 1 < 1
N370S/W184R 1 < 1
N370S/[c.(-203)A > G;P182L] 1 < 1
N370S/[c.(-203)A > G;P391L] 1 < 1
N370S/c.1097_1098delGC 1 < 1
N370S/c.1451_452delAC 1 < 1
N370S/c.1510_1512delTCT 1 < 1
N370S/c.708delC 1 < 1
N370S/c.838delT 1 < 1
R496H/R496H 1 < 1
unknown/unknown 2 < 1
[E326K;L444P]/unknown 1 < 1
N370S/unknown 22 5.9
Total 370