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Table 2 GBA genotype distribution in type 2 GD

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

Genotype Frequency Percent
[E326K;L444P]/R463H 3 10.7
L444P/G195E 3 10.7
L444P/c.1263_1317del55 3 10.7
D409H/R120W 2 7.1
[E326K;L444P]/[E326K;L444P] 2 7.1
L444P/L444P 2 7.1
L444P/R120W 2 7.1
[E326K;L444P]/G202R 1 3.6
[E326K;L444P]/W312R 1 3.6
G389E/unknown 1 3.6
[E326K;L444P]/L444P 1 3.6
L444P/G202R 1 3.6
L444P/I270P 1 3.6
L444P/RecNciI 1 3.6
L444P/S364R 1 3.6
L444P/c.203_204insC 1 3.6
N392I/L444P 1 3.6
V15M/G195W 1 3.6
D409H/R120W 2 7.1
[E326K;L444P]/[E326K;L444P] 2 7.1
L444P/L444P 2 7.1
L444P/R120W 2 7.1
[E326K;L444P]/G202R 1 3.6
[E326K;L444P]/W312R 1 3.6
G389E/unknown 1 3.6
[E326K;L444P]/L444P 1 3.6
L444P/G202R 1 3.6
L444P/I270P 1 3.6
L444P/RecNciI 1 3.6
L444P/S364R 1 3.6
L444P/c.203_204insC 1 3.6
N392I/L444P 1 3.6
V15M/G195W 1 3.6
Total 28