Table 2 Molecular analysis of the patients with Gaucher disease
Patient ID | Variant location (GBA1 geneb) | Zygosity | Allele frequency | dbSNP reference number | |
|---|---|---|---|---|---|
1000 Genomes | ExAC | ||||
P1-P51 | Ex11:c.1448T>C/p.L483P | Hom | 0.0034 | 0.0031 | rs421016 |
P52 | Ex11:c.1448T>C/p.L483P | Com Hetz | 0.0034 | 0.0031 | rs421016 |
Ex5:c.407C>T/p.S136 La | NR | NR | rs878853316 | ||
P53 | Ex11:c.1448T>C/p.L483P | Com Hetz | 0.0034 | 0.0031 | rs421016 |
Ex4:c.167T>G/p.V56G | NR | NR | rs878853318 | ||
P54 | Ex11:c.1448T>C/p.L483P | Com Hetz | 0.0034 | 0.0031 | rs421016 |
Ex10:c.1363A>G/p.M455 V | NR | NR | NR | ||
P55 | Ex11:c.1448T>C/p.L483P | Com Hetz | 0.0034 | 0.0031 | rs421016 |
Ex7:c.656C>T/p.T219I | NR | NR | NR | ||
P56-P57 | Ex11:c.1448T>C/p.L483P | Com Hetz | 0.0034 | 0.0031 | rs421016 |
Ex12:c.1603C>T/p.R535C | NR | 0.00004357 | rs747506979 | ||
P58-P59 | Ex11:c.1448T>C/p.L483P | Com Hetz | 0.0034 | 0.0031 | rs421016 |
Ex5:c.371T>G/p.M124R | NR | 0.000008237 | NR | ||
P60 | Ex11:c.1448T>C/p.L483P | Com Hetz | 0.0034 | 0.0031 | rs421016 |
Ex10:c.1255G>C/p.D419H | NR | NR | NR | ||
P61-P62 | Ex11:c.1448T>C/p.L483P | Com Hetz | 0.0034 | 0.0031 | rs421016 |
Ex11:RecNcil | – | ||||
P63-P64 | Ex12:c.1603C>T/p.R535C | Hom | NR | 0.00004357 | rs747506979 |
P65 | Ex12:c.1603C>T/p.R535C | Com Hetz | NR | 0.00004357 | rs747506979 |
Ex6,7:Complex C | – | ||||
P66-P67 | Ex11:c.1504C>T/p.R502C | Hom | NR | 0.00006 | rs80356771 |
P68-P70 | Ex11:c.1459G>A/p.A487T | Hom | NR | NR | rs878853317 |
P71 | Ex6:c.492C>G/p.S164R | Com Hetz | NR | 0.00003295 | NR |
Ex4:c.254G>A/p.G85E | NR | 0.000008 | rs77829017 | ||
P72 | Ex4:c.254G>A/p.G85E | Com Hetz | NR | 0.000008 | rs77829017 |
Ex11:RecNcil | – | ||||
P73-P74 | Ex7:c.754T>A/p.F252I | Hom | NR | 0.00002 | rs381737 |
P75-P76 | Ex9:c.1195G>C/p.G399Ra | Com Hetz | NR | NR | NR |
Ex12:c.1603C>T/ p.R535C | NR | 0.00004357 | rs747506979 | ||
P77 | Ex7:c.721G>A/p.G241R | Hom | NR | NR | rs409652 |
P78 | Ex10:c.1342G>C/p.D448H | Hom | NR | 0.0001 | rs1064651 |
P79−P80 | Ex8:c.827C>T/p.S276F | Hom | NR | 0.00000837 | NR |
P81 | Ex9:c.1060G>A/p.D354N | Hom | NR | 0.000008 | rs398123526 |
P82 | Ex8:c.776A>G/p.Y259C | Hom | NR | NR | NR |
P83 | Ex5:c.415G>C/p.A139P | Hom | NR | NR | rs878853314 |
P84 | Ex9:c.1177C>G/p.L393 V | Hom | NR | NR | rs878853315 |
P85 | Ex7:c.721G>C/p.G241R | Hom | NR | NR | NR |
P86 | Ex4:c.260G>A/p.R87Q | Hom | NR | NR | rs78769774 |
P87 | Ex8:c.835C>G/p.L279 V† | Hom | NR | NR | NR |
P88 | In1:g.3548A>G/g.3548A > G | Com Hetz | 0.0078 | NR | rs18897815 |
Ex11:RecNcil | – | ||||
P89 | Ex4:c.259C>T/p.R87W | Com Hetz | NR | 0.00002 | rs1141814 |
Ex11:RecNcil | – | ||||
P90 | Ex9:c.1148G>A/p.G383D† | Com Hetz | NR | NR | NR |
Ex11:RecNcil | – | ||||
P91 | Ex6:c.475C>T/p.R159W | Com Hetz | NR | NR | rs439898 |
Ex11:RecNcil | – | ||||
P92 | Ex7:c.680A>G/p.N227S | Com Hetz | 0.0002 | 0.00007 | rs364897 |
Ex6,7:Complex C | – | ||||
P93 | Ex8:c.887G>A/p.R296Q | Com Hetz | NR | 0.00003 | rs78973108 |
Ex6,7:Complex C | – | ||||
P94 | Patients’DNA is not available Mother- Ex11:c.1448T> C/p.L483P Father- Ex11:c.1448T> C/p.L483P | Single Hetz | 0.0034 | 0.0031 | rs421016 |
P95 | Patients’ DNA is not available Mother- Ex11:c.1448T>C/p.L483P | Single Hetz | 0.0034 | 0.0031 | rs421016 |
Father- Ex4:c.242G>A/p.S81 N | NR | NR | NR | ||
P96 | Patients’ DNA is not available Mother- Ex6:c.475C>T/p.R159W | Single Hetz | NR | NR | rs439898 |
Father- Ex11:c.1448T>C/p.L483P | 0.0034 | 0.0031 | rs421016 | ||
P97 | Patients’ DNA is not available Mother- Ex6,7:Complex C Father- Ex6,7:Complex C | Single Hetz | – | ||
P98 | Mutation not found | NA | NA | NA | NA |
P99 | Mutation not found | NA | NA | NA | NA |
P100 | No amplification from Exon 1 to Exon 7 | NA | NA | NA | NA |