Gaucher dbSNP Missense

Missense mutations of GBA annotated in dbSNP

AA pos	From	To	Codon pos	Allele
13	K	R	2	G
15	L	S	2	C
16	S	G	1	G
17	R	G	1	G
20	I	V	1	G
41	R	C	1	T
46	K	E	1	G
62	C	Y	2	A
63	D	E	3	A
68	P	R	2	G
76	F	L	3	G
78	R	C	1	T
80	E	K	1	A
82	T	R	2	G
83	R	S	1	A
86	R	Q	2	A
87	R	Q	2	A
87	R	W	1	T
92	M	T	2	C
99	H	R	2	G
99	H	Y	1	T
156	N	K	3	A
158	I	S	2	G
159	R	W	1	T
161	P	L	2	T
162	M	I	3	A
166	D	V	2	T
170	R	L	2	T
173	T	I	2	T
175	A	E	2	A
179	D	H	1	C
196	K	N	3	C
198	P	L	2	T
200	I	N	2	A
201	H	P	2	C
211	V	I	1	A
221	P	L	2	T
223	W	R	1	C
227	N	K	3	G
228	G	V	2	T
229	A	E	2	A
230	V	E	2	A
234	G	E	2	A
241	G	E	2	A
244	Y	C	2	G
252	F	L	3	A
270	T	R	2	G
281	S	N	2	A
301	R	H	2	A
304	G	D	2	A
305	P	R	2	G
310	S	N	2	A
310	S	G	1	G
324	R	H	2	A
329	H	Q	3	G
342	K	I	2	T
343	Y	C	2	G
345	H	Y	1	T
357	A	D	2	A
368	R	H	2	A
392	R	Q	2	A
398	R	Q	2	A
400	M	I	3	A
402	Y	C	2	G
405	S	R	3	A
408	T	M	2	T
408	T	M	2	T
417	W	C	3	T
419	D	E	3	A
419	D	A	2	C
422	L	I	1	A
427	E	K	1	A
430	P	L	2	T
431	N	I	2	T
435	N	T	2	C
436	F	S	2	C
438	D	E	3	G
441	I	T	2	C
448	D	E	3	G
450	F	L	3	A
455	M	I	3	A
456	F	L	3	G
457	Y	C	2	G
479	Q	P	2	C
482	D	N	1	A
490	H	R	2	G
504	S	F	2	T
509	L	P	2	C
513	D	E	3	G
530	T	I	2	T
534	R	C	1	T
535	R	H	2	A