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

Abbreviations: Com Hetz Compound Heterozygous, dbSNP The Single Nucleotide Polymorphism database, ExAC The Exome Aggregation Consortium, Ex Exon, Homozygous (Hom), NR Not Reported

RecNcil: [c.1448T>C (p.L483P), c.1483G>C (p.A495P), c.1497G>C (p.V499 V)]]

Complex C: [c.475C>T (p.R159W), c.667T>C (p. W223R), c.681T>G (p.N227K), c.689 T>G (p.V230G), c.703T>C (p.S235P), c.721G>A (p.G241R), c.754T>A (p.F252I)]

^aNovel variants identified in the given study

^bThe above variants refers to the GBA1 gene with transcript ID ENST00000327247.5 and reference sequence number NM_001005741.2