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 |