Gaucher dbSNP Missense

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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