Glucocerebrosidase mapping snps

HGMD

Overview mutations

Mutation type	explanation	Number of mutations
Missense/nonsense	codon codes for a different amino acid/premature stop codon	236
Splicing	mutation causes splicing	13
Regulatory	mutation affecting the regulation of gene expression	0
Small deletions	deleted amino acids	23
Small insertions	inserted amino acids	13
Small indels	insertion or deletion (maybe not recognizable)	2
Gross deletions	big deletions	3
Gross insertions/duplications	big insertions or duplicated sequences	0
Complex rearrangements	part of the sequence is placed somewhere else	13
Repeat variations	repeated varied parts of the sequence are placed somewhere else	0
Public total (HGMD Professional 2011.1 total)		303 (353)

Missense/nonsense mutations given for GBA

There are given 236 missense/nonsense mutations for GBA:

Codon change	Amino acid change	Codon number
AAG-AGG	Lys-Arg	-27
TGGg-TGA	Trp-Term	-4
cGGC-AGC	Gly-Ser	10
AGC-ATC	Ser-Ile	12
gGTG-ATG	Val-Met	15
gGTG-CTG	Val-Leu	15
TGT-TCT	Cys-Ser	16
tGAC-AAC	Asp-Asn	24
tGGT-AGT	Gly-Ser	35
cTTC-GTC	Phe-Val	37
tGAG-AAG	Glu-Lys	41
AGT-AAT	Ser-Asn	42
ACA-ATA	Thr-Ile	43
GGG-GAG	Gly-Glu	46
gCGA-TGA	Arg-Term	47
aCGG-TGG	Arg-Trp	48
CGG-CAG	Arg-Gln	48
CTA-CCA	Leu-Pro	66
aCAG-TAG	Gln-Term	73
gAAG-TAG	Lys-Term	74
GTG-GCG	Val-Ala	78
AAGg-AAC	Lys-Asn	79
ATG-ACG	Met-Thr	85
tGCT-ACT	Ala-Thr	90
CTT-CGT	Leu-Arg	105
TCG-TTG	Ser-Leu	107
cTTC-GTC	Phe-Val	109
tGAA-AAA	Glu-Lys	111
GGA-GAA	Gly-Glu	113
tAAC-GAC	Asn-Asp	117
ATC-ACC	Ile-Thr	119
ATC-AGC	Ile-Ser	119
cCGG-TGG	Arg-Trp	120
CGG-CAG	Arg-Gln	120
GTA-GCA	Val-Ala	121
aCCC-TCC	Pro-Ser	122
CCC-CTC	Pro-Leu	122
ATG-ACG	Met-Thr	123
cATG-GTG	Met-Val	123
GAC-GTC	Asp-Val	127
cCGC-TGC	Arg-Cys	131
CGC-CTC	Arg-Leu	131
ACC-ATC	Thr-Ile	134
cACC-CCC	Thr-Pro	134
TATg-TAG	Tyr-Term	135
GCA-GAA	Ala-Glu	136
tGAT-CAT	Asp-His	140
GAA-GCA	Glu-Ala	152
AAGa-AAT	Lys-Asn	157
cAAG-CAG	Lys-Gln	157
aCCC-ACC	Pro-Thr	159
CCC-CTC	Pro-Leu	159
ATT-AAT	Ile-Asn	161
ATT-AGT	Ile-Ser	161
CAC-CCC	His-Pro	162
cCGA-TGA	Arg-Term	163
cCAG-TAG	Gln-Term	169
CGT-CCT	Arg-Pro	170
gCGT-TGT	Arg-Cys	170
TCA-TGA	Ser-Term	173
aCTC-TTC	Leu-Phe	174
CTC-CCC	Leu-Pro	174
GCC-GAC	Ala-Asp	176
cCCC-TCC	Pro-Ser	178
TGG-TAG	Trp-Term	179
gACA-CCA	Thr-Pro	180
aCCC-ACC	Pro-Thr	182
CCC-CTC	Pro-Leu	182
tTGG-CGG	Trp-Arg	184
gCTC-TTC	Leu-Phe	185
AAT-AGT	Asn-Ser	188
AATg-AAG	Asn-Lys	188
GGA-GTA	Gly-Val	189
aGCG-ACG	Ala-Thr	190
GCG-GAG	Ala-Glu	190
GTG-GAG	Val-Glu	191
GTG-GGG	Val-Gly	191
GGG-GAG	Gly-Glu	195
gGGG-TGG	Gly-Trp	195
gTCA-CCA	Ser-Pro	196
aCTC-TTC	Leu-Phe	197
CTC-CCC	Leu-Pro	197
AAG-ACG	Lys-Thr	198
cAAG-GAG	Lys-Glu	198
cGGA-AGA	Gly-Arg	202
GGA-GAA	Gly-Glu	202
TAC-TGC	Tyr-Cys	205
cTGG-CGG	Trp-Arg	209
GCC-GTC	Ala-Val	210
aTAC-CAC	Tyr-His	212
cTTT-ATT	Phe-Ile	213
TTT-TGT	Phe-Cys	213
gTTC-GTC	Phe-Val	216
TTC-TAC	Phe-Tyr	216
TAT-TGT	Tyr-Cys	220
ACA-AGA	Thr-Arg	231
GAAa-GAC	Glu-Asp	233
tGAA-TAA	Glu-Term	233
tTCT-CCT	Ser-Pro	237
GGG-GTG	Gly-Val	239
GGA-GTA	Gly-Val	243
aTAC-CAC	Tyr-His	244
CCC-CAC	Pro-His	245
TTCa-TTA	Phe-Leu	251
CATc-CAG	His-Gln	255
CGA-CAA	Arg-Gln	257
gCGA-TGA	Arg-Term	257
TTCa-TTA	Phe-Leu	259
ATT-ACT	Ile-Thr	260
GGT-GAT	Gly-Asp	265
CCT-CGT	Pro-Arg	266
CCT-CTT	Pro-Leu	266
tCCT-GCT	Pro-Ala	266
AGT-AAT	Ser-Asn	271
CTC-CCC	Leu-Pro	279
aCGC-TGC	Arg-Cys	285
CGC-CAC	Arg-His	285
CCC-CTC	Pro-Leu	289
aCTG-TTG	Leu-Leu	296
AAA-ATA	Lys-Ile	303
TAT-TGT	Tyr-Cys	304
TATg-TAG	Tyr-Term	304
tGTT-CTT	Val-Leu	305
GCT-GTT	Ala-Val	309
CAT-CGT	His-Arg	311
TGGt-TGT	Trp-Cys	312
tTGG-CGG	Trp-Arg	312
gTAC-CAC	Tyr-His	313
gGAC-CAC	Asp-His	315
GCT-GAT	Ala-Asp	318
tCCA-GCA	Pro-Ala	319
ACC-ATC	Thr-Ile	323
CTA-CAA	Leu-Gln	324
CTA-CCA	Leu-Pro	324
aGGG-AGG	Gly-Arg	325
aGGG-TGG	Gly-Trp	325
gGAG-AAG	Glu-Lys	326
cCGC-TGC	Arg-Cys	329
TTC-TCC	Phe-Ser	331
CTC-CCC	Leu-Pro	336
gGCC-ACC	Ala-Thr	341
cTGT-CGT	Cys-Arg	342
cTGT-GGT	Cys-Gly	342
TGT-TAT	Cys-Tyr	342
cTGG-GGG	Trp-Gly	348
gGAG-AAG	Glu-Lys	349
gCAG-TAG	Gln-Term	350
tGTG-CTG	Val-Leu	352
gCGG-GGG	Arg-Gly	353
gCGG-TGG	Arg-Trp	353
GGC-GAC	Gly-Asp	355
TCC-TTC	Ser-Phe	356
TGG-TAG	Trp-Term	357
CGA-CAA	Arg-Gln	359
tCGA-TGA	Arg-Term	359
ATGc-ATA	Met-Ile	361
TAC-TGC	Tyr-Cys	363
AGC-AAC	Ser-Asn	364
AGC-ACC	Ser-Thr	364
cAGC-CGC	Ser-Arg	364
AGC-AAC	Ser-Asn	366
AGC-ACC	Ser-Thr	366
cAGC-GGC	Ser-Gly	366
ACG-ATG	Thr-Met	369
AAC-AGC	Asn-Ser	370
AACc-AAA	Asn-Lys	370
cCTC-GTC	Leu-Val	371
tGTG-TTG	Val-Leu	375
cGGC-AGC	Gly-Ser	377
cTGG-GGG	Trp-Gly	378
TGG-TAG	Trp-Term	378
cGAC-AAC	Asp-Asn	380
cGAC-CAC	Asp-His	380
GAC-GCC	Asp-Ala	380
TGG-TAG	Trp-Term	381
AACc-AAA	Asn-Lys	382
CTT-CGT	Leu-Arg	383
CTG-CCG	Leu-Pro	385
CCC-CTC	Pro-Leu	387
cGAA-TAA	Glu-Term	388
GGA-GAA	Gly-Glu	389
aGGA-AGA	Gly-Arg	390
CCC-CTC	Pro-Leu	391
AAT-ATT	Asn-Ile	392
TGG-TTG	Trp-Leu	393
tTGG-AGG	Trp-Arg	393
gGTG-TTG	Val-Leu	394
CGT-CCT	Arg-Pro	395
gCGT-TGT	Arg-Cys	395
AAC-ACC	Asn-Thr	396
TTT-TCT	Phe-Ser	397
tGTC-ATC	Val-Ile	398
tGTC-CTC	Val-Leu	398
tGTC-TTC	Val-Phe	398
cGAC-AAC	Asp-Asn	399
cGAC-TAC	Asp-Tyr	399
CCC-CTC	Pro-Leu	401
ATC-ACC	Ile-Thr	402
cATC-TTC	Ile-Phe	402
GAC-GGC	Asp-Gly	409
GAC-GTC	Asp-Val	409
gGAC-CAC	Asp-His	409
gTTT-ATT	Phe-Ile	411
tTAC-CAC	Tyr-His	412
cAAA-CAA	Lys-Gln	413
aCAG-TAG	Gln-Term	414
CAG-CGG	Gln-Arg	414
CCC-CGC	Pro-Arg	415
cATG-GTG	Met-Val	416
gTTC-GTC	Phe-Val	417
TAC-TGC	Tyr-Cys	418
GGC-GAC	Gly-Asp	421
cAAG-GAG	Lys-Glu	425
AGAg-AGT	Arg-Ser	433
gAGA-GGA	Arg-Gly	433
CTG-CCG	Leu-Pro	444
CTG-CGG	Leu-Arg	444
cGCA-CCA	Ala-Pro	446
CAT-CGT	His-Arg	451
tGCT-CCT	Ala-Pro	456
cGTG-ATG	Val-Met	460
CTA-CCA	Leu-Pro	461
AAC-AGC	Asn-Ser	462
AACc-AAG	Asn-Lys	462
cCGC-TGC	Arg-Cys	463
CGC-CAC	Arg-His	463
CGC-CCC	Arg-Pro	463
gGAT-TAT	Asp-Tyr	474
gGGC-AGC	Gly-Ser	478
CTG-CCG	Leu-Pro	480
cTCC-CCC	Ser-Pro	488
ATT-ACT	Ile-Thr	489
ACC-ATC	Thr-Ile	491
CGC-CAC	Arg-His	496
tCGC-TGC	Arg-Cys	496
CAG-CGG	Gln-Arg	497

Sequence

>sp|P04062|GLCM_HUMAN Glucosylceramidase OS=Homo sapiens GN=GBA PE=1 SV=3
MEFSSPSREECPKPLSRVSIMAGSLTGLLLLQAVSWASGARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYES
TRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPM
ASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDI
YHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQR
LLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHS
IITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAV
ALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ

Possible missense/nonsense mutations are marked with red.

dbSNP

Search dbSNP for GBA

All: 296
Human: 130

ID	mutation in sequence	amino acid	position
rs121909119		R	251
rs121908314		S	251
rs121908313		M	251
rs121908312		S	251
rs121908311		R	251
rs121908310		K	251
rs121908309		Y	251
rs121908308		S	251
rs121908307		S	251
rs121908306		K	251
rs121908305		R	251
rs121908304		K	251
rs121908303		K	251
rs121908302		K	251
rs121908301		R	251
rs121908300		Y	251
rs121908299		Y	251
rs121908298		Y	251
rs121908297		M	251
rs121908295		S	251
rs104886460		K	251
rs80356773		R	251
rs80356772		R	251
rs80356771		Y	251
rs80356769		K	251
rs80356768		N	251
rs80356765		R	251
rs80356763		K	251
rs80356760		N	251
rs80356759		R	251
rs79653797		R	251
rs78973108		Y	251
rs78396650		Y	251
rs78198234		R	251
rs77829017		R	251
rs77369218		W	251
rs76763715		B	251
rs76539814		N	251
rs74598136		W	251
rs74500255		Y	251
rs72704130		R	201
rs71804950		N	401
rs71702887		N	401
rs67048649		N	401
rs66677213		N	401
rs66539432		N	401
rs66487775		N	401
rs61748906		R	51
rs60482782		N	501
rs56124445		M	501
rs41264927	TGAAAACTCCATCCCCTCAGGGTCAT [C/T] AGATGAAGAGAAGACCACAGGGGTT	Y	401
rs41264925	TGTAGGTAAGGGTCACATGTGGGAGA [C/G] GCAGCTGTGGGTAGGTCAGCCCTGT	S	401
rs36024691	CCAAGAAGGCGCCATTACACTCCAGC [-/C] TGGGCGACAGGGCGAGACTCCCTCA	N	301
rs36024092	TGCCACACCCAGCTAATTTGTGTGTG [-/G] TATGTGTGTGTATGTATGTGTGTGT	N	301
rs35766614	GACGGGCGCCTGTAATCCCAGCTACT [C/T] GGGAGGCTGAGGCAGGAGAATTGCT	Y	301
rs35682967	GTTCCTCCAGTAATTTTTTTTTTTTT [-/T] GGTTTTGAGACAGAGTCTTGCCCTG	N	501
rs35033592	ATCATGCCCAGATAATTTTTTTTTTT [-/T] GTATTTTAGTAGACACAGGGTTTCA	N	301
rs34732744	CGAGCGAGAGAGAGAGAGAGAGAGAG [-/AG] GAGCCGGCGCGAGAACTACGCATGC	N	401
rs34620635	CCTGTGAGGGGCACATTCCTTAGTAG [-/C] TAAGGAGTTGGGGGTGTGAAGATCC	N	301
rs33949225	GCGAGAGAGAGAGAGAGAGAGAGAGG [-/AG] AGCCGGCGCGAGAACTACGCATGCG	N	401
rs28678003	AAGAAGAAAAATAAAAAGAAAGTGGG [C/T] CAGACCGAGAGAACAGGAAGCCTGA	Y	501
rs28559737	AAGGACAAAGGCAAAGAGACAAAGGC [G/T] CAACACTGGGGGTCCCCAGAGAGTG	K	251
rs28373017	TACCTAGTCACTTCCTGCCTCCATGG [C/T] GCAAAAGGGGATGGGTGTGCCTCTT	Y	301
rs12752133	CTCTTCCGAGGTTCCACCCTGAACAC [C/T] TTCCTGCTCCCTCGTGGTGTAGAGT	Y	301
rs12747811	TTCTGACTGGCAACCAGCCCCACTCT [C/T] TGGGAGCCCTCAGGAATGAACTTGC	Y	201
rs12743554	gctcagcctcccaggctggagtgcag [A/T] ggcgcgatctcggctcaccgcaacc	W	501
rs12406363	TGAGTCACACCTGTAATCCCAGCACT [C/T] TGGGAGACCGAGGCAGGCGGATTAC	Y	393
rs12041778	CATGAACCACATCAAATGAGATTTAG [C/T] GGGAGTGGCACACACAGTCATGACC	Y	201
rs12034326	AAGCAGCCCTGGGGAGTCGGGGCGGG [A/G] CCTGGATTGGAAAAGAGACGGTCAC	R	301
rs11558184	CTCCAAGTTCTGGGAGCAGAGTGTGC [A/G] GCTAGGCTCCTGGGATCGAGGGATG	R	51
rs11430678	GTTCCTCCAGTAAttttttttttttt [-/GT] gttttgagacagagtcttgccctgt	N	501
rs11264345	CTAGTACCTTACTTCCCTCAAGTTCA [A/T] TCATCTCACAGATATTTCCTGAGCA	W	201
rs10908459	aattagccgtgcgtggtggcgggtgc [C/T] tgtaatcccacgtacttgggaggct	Y	501
rs10668496	agcgagagagagagagagagagagag [-/AG] gagCCGGCGCGAGAACTACGCATGC	N	401
rs9628662	TAGTTCCTGTTGTAGGAATCCTGGAG [G/T] TGGGTGACGGGAAGAATGCAACTAG	K	201
rs7416991	CGTAGCAGTTAGCAGATGATAGGCGG [C/G/T] GAAATCTTATTTCACAGGGCATTAA	B	201
rs3841430	GGCTCCTCTCTCTCTCTCTCTCTCTC [-/TC] GCTCGCTCTCTCGCTCTCTCGCTCT	N	400
rs3754485	GTTTCAGACCAGCCTGGCCAACATAG [C/T] GAAACCCCATCTCTACTAAAAATAA	Y	501
rs2990228	CAAGTTTCTGATCTTGGGACCTTAAC [A/C] TTCTATGGGACGACACAGATATATA	M	201
rs2990227	CCGGGCTCCGTGAATGTTTGTCACAT [C/G] TCTGAAGAACGTATGAATTACATAA	S	201
rs2990226	GAATCCCAACCCCGACGCTCGTCGCC [C/G] GGCTCCGTGAATGTTTGTCACATGT	S	201
rs2990225	GCGAATCCCAACCCCGACGCTCGTCG [C/T] CGGGCTCCGTGAATGTTTGTCACAT	Y	201
rs2990224	TGGGCAGAAGTCAGGGTCCAAAGAAA [G/T] GGCAAAGAAAAGTGTcagtggctca	K	201
rs2974922	GCCCATCCCTGACATTTGGTTCCTGT [C/T] TTAATGCCCTGTGAAATAAGATTTC	Y	201
rs2974921	tgagccactgACACTTTTCTTTGCCC [A/T] TTCTTTGGACCCTGACTTCTGCCCA	201
rs2885305	AGAATGAGGAATGACTGAAAAGCAAG [C/T] CCCTCTCCACCCCTCAACTACTCTC	Y	89
rs2361535	TTAGCTGCCTTTGGGTGCCCATGGCC [C/T] GGTCTCCCACATTCATTAGGACAAG	Y	152
rs2361534	CCCTCTCCACCCCTCAACTACTCTCC [C/T] GGGCAGGGCTTAGCTGCCTTTGGGT	Y	116
rs2230289	GATGCAGTACAGCCACAGCATCATCA [C/T] GAACCTCCTGTACCATGTGGTCGGC	Y	151
rs2230288	TGGCTCCAGCCAAAGCCACCCTAGGG [A/G] AGACACACCGCCTGTTCCCCAACAC	R	251
rs2075569	ATGACATAGAGCCATTGAAACTtttc [A/G] tttttcttttctttttttaaaattt	R	205
rs2070679	GGTTGCAGGGAGAGCTGCACCCAGGT [G/T] TCTGTGGGCCTTGTCCTAATGAATG	K	441
rs2009578	ggcgccatcttcactcactgtaacct [C/T] tgcctcctgagttcaagcaattctc	Y	302
rs1800442	CAGGAGAATCACTCGAACCCAGGAGG [C/T] GGAGGTTGCAGTGAGCCAAGATCAC	Y	501
rs1800438	GGggtccagcgcagtggctcatgcct [A/G] taatcccagcactttcggataccaa	R	678
rs1158151	taccatctttctatgtgttaatccat [A/G] actccagccttgacctcccatgagc	R	262
rs1141826	ATGCAGTACAGCCACAGCATCATCAC [A/G] AACCTCCTGTACCATGTGGTCGGCT	R	51
rs1141821	ATGGGGCCCATCCAGGCTAATCACAC [C/G] GGCACAGGCCTGCTACTGACCCTGC	S	101
rs1141820	GAGTATGGGGCCCATCCAGGCTAATC [A/G] CACCGGCACAGGCCTGCTACTGACC	R	51
rs1141818	TGAGTATGGGGCCCATCCAGGCTAAT [C/T] ACACCGGCACAGGCCTGCTACTGAC	Y	51
rs1141816	GGCGATTGGATGGAGCTGAGTATGGG [A/G] CCCATCCAGGCTAATCACACCGGCA	R	51
rs1141815	AGTGGGCGATTGGATGGAGCTGAGTA [C/T] GGGGCCCATCCAGGCTAATCACACC	Y	51
rs1141814	GCTACAAGAGCACACGCAGTGGGCGA [C/T] TGGATGGAGCTGAGTATGGGGCCCA	Y	101
rs1141812	GTACCTTCAGCCGCTACAAGAGCAGA [A/C] GCAGTGGGCGATTGGATGGAGCTGA	M	51
rs1141811	TGGTACCTTCAGCCGCTATGAGAGTA [C/G/T] ACGCAGTGGGCGACGGATGGAGCTG	B	61
rs1141810	CTTGGTACCTTCAGCCGCTACAAGAG [C/T] AGAAGCAGTGGGCGATTGGATGGAG	Y	51
rs1141808	CTGCCCTTGGTACCTTCAGCCGCTAC [A/G] AGAGCACACGCAGTGGGCGATTGGA	R	101
rs1141807	CCTGCCCTTGGTACCTTCAGCCGCTA [C/T] AAGAGCACACGCAGTGGGCGATTGG	Y	101
rs1141804	CCAGAGAGGAATGTCCCAAGCCTTTG [A/G] GTAGGGTAAGCATCATGGCTGGCAG	R	101
rs1141802	TTCCAGAGAGGAATGTCCCAAGCCTT [C/T] GAGTAGGGTAAGCATCATGGCTGGC	Y	101
rs1141801	CTTCTCTTCATCTAATGACCCTGAGG [G/T] GATGGAGTTTTCAAGTCCTTCCAGA	K	177
rs1135675	CCCGATGGCTCTGCTGTTGTGGTCGT [C/G] CTAAACCGCTCCTCTAAGGATGTGC	S	51
rs1064651	GTCCCATCATTGTAGACATCACCAAG [C/G] ACACGTTTTACAAACAGCCCATGTT	S	251
rs1064648	CAAAGCCACCCTAGGGGAGACACACC [A/G] CCTGTTCCCCAACACCATGCTCTTT	R	101
rs1064647	CCAGAAGCAGCTAAATATGTTCATGG [C/T] ATTGCTGTACATTGGTACCTGGACT	Y	101
rs1064646	GTACTGACAGACCCAGAAGCAGCTAA [A/G] TATGTTCATGGCATTGCTGTACATT	R	101
rs1064644	CCAATGGAGCGGTGAATGGGAAGGGG [C/T] CACTCAAGGGACAGCCCGGAGACAT	Y	251
rs1064640	AACCCCTGTGGTCTTCTCTTCATCTA [A/G] TGACCCTGAGGGGATGGAGTTTTCA	R	165
rs1064638	CCTTCAGAGACTCTGGAACCCCTGTG [C/G] TCTTCTCTTCATCTAATGACCCTGA	S	51
rs1064637	CAGGGCTAACCTAGTGCCTATAGCTA [A/T] GGCAGGTACCTGCATCCTTGTTTTT	W	51
rs1059731	AGCATCATGGCTGGCAGCCTCACAGG [A/T] TTGCTTCTACTTCAGGCAGTGTCGT	W	51
rs1057927	GAATTACTTGCAGGGCTAACCTAGTG [A/C] CTATAGCTAAGGCAGGTACCTGCAT	M	51
rs762488	gattataggcgcctgccaccaggccc [A/G] gctgatttttctatttttagtagag	R	379
rs426516	AGGCCTAGAGAGCCAGTGCAGAGCCT [C/T] TGCAGGAGTTATGGGGTGGGTCCGT	Y	201
rs421016	CGGGATGCATCAGTGCCACTGCGTCC [A/C/G/T] GGTCGTTCTTCTGACTGGCAACCAG	N	301
rs381737	TCTACCACCAGACCTGGGCCAGATAC [A/T] TTGTGAAGTAAGGGATCAGCAAGGA	W	251
rs381427	CACTTGGCTCAAGACCAATGGAGCGG [A/G/T] GAATGGGAAGGGGTCACTCAAGGGA	D	201
rs381418	ACATCACCCACTTGGCTCAAGACCAA [G/T] GGAGCGGTGAATGGGAAGGGGTCAC	K	201
rs368060	TCACCGGTTTAGGACGACCACAACAG [C/G] AGAGCCATCGGGATGCATCAGTGCC	S	301
rs364897	GACATCACCCACTTGGCTCAAGACCA [A/C/G/T] TGGAGCGGTGAATGGGAAGGGGTCA	N	251

Search dbSNP for silent mutations for GBA

All: 24
Human: 10

ID	mutation in sequence	amino acid	position
rs12747811	TTCTGACTGGCAACCAGCCCCACTCT [C/T] TGGGAGCCCTCAGGAATGAACTTGC	Y	201
rs17405304	ATGCAGTACAGCCACAGCATCATCAC [A/G] AACCTCCTGTACCATGTGGTCGGCT	R	51
rs3205635	ATGCAGTACAGCCACAGCATCATCAC [A/G] AACCTCCTGTACCATGTGGTCGGCT	R	51
rs1141826	ATGCAGTACAGCCACAGCATCATCAC [A/G] AACCTCCTGTACCATGTGGTCGGCT	R	51
rs17405290	ATGGGGCCCATCCAGGCTAATCACAC [C/G] GGCACAGGCCTGCTACTGACCCTGC	S	101
rs3205624	ATGGGGCCCATCCAGGCTAATCACAC [C/G] GGCACAGGCCTGCTACTGACCCTGC	S	101
rs1141821	ATGGGGCCCATCCAGGCTAATCACAC [C/G] GGCACAGGCCTGCTACTGACCCTGC	S	101
rs3205620	GGCGATTGGATGGAGCTGAGTATGGG [A/G] CCCATCCAGGCTAATCACACCGGCA	R	51
rs1141816	GGCGATTGGATGGAGCTGAGTATGGG [A/G] CCCATCCAGGCTAATCACACCGGCA	R	51
rs1141810	CTTGGTACCTTCAGCCGCTACAAGAG [C/T] AGAAGCAGTGGGCGATTGGATGGAG	Y	101
rs16836764	CCTGCCCTTGGTACCTTCAGCCGCTA [C/T] AAGAGCACACGCAGTGGGCGATTGG	Y	101
rs3205615	CCTGCCCTTGGTACCTTCAGCCGCTA [C/T] AAGAGCACACGCAGTGGGCGATTGG	Y	101
rs1141807	CCTGCCCTTGGTACCTTCAGCCGCTA [C/T] AAGAGCACACGCAGTGGGCGATTGG	Y	101
rs1801473	CCCGATGGCTCTGCTGTTGTGGTCGT [C/G] CTAAACCGCTCCTCTAAGGATGTGC	S	51
rs3198511	CCCGATGGCTCTGCTGTTGTGGTCGT [C/G] CTAAACCGCTCCTCTAAGGATGTGC	S	51
rs1135675	CCCGATGGCTCTGCTGTTGTGGTCGT [C/G] CTAAACCGCTCCTCTAAGGATGTGC	S	51
rs17401379	CCAGAAGCAGCTAAATATGTTCATGG [C/T] ATTGCTGTACATTGGTACCTGGACT	Y	101
rs3205632	CCAGAAGCAGCTAAATATGTTCATGG [C/T] ATTGCTGTACATTGGTACCTGGACT	Y	101
rs1064647	CCAGAAGCAGCTAAATATGTTCATGG [C/T] ATTGCTGTACATTGGTACCTGGACT	Y	101
rs17401372	GTACTGACAGACCCAGAAGCAGCTAA [A/G] TATGTTCATGGCATTGCTGTACATT	R	101
rs3205631	GTACTGACAGACCCAGAAGCAGCTAA [A/G] TATGTTCATGGCATTGCTGTACATT	R	101
rs1064646	GTACTGACAGACCCAGAAGCAGCTAA [A/G] TATGTTCATGGCATTGCTGTACATT	R	101
rs3200534	AGCATCATGGCTGGCAGCCTCACAGG [A/T] TTGCTTCTACTTCAGGCAGTGTCGT	W	51
rs1059731	AGCATCATGGCTGGCAGCCTCACAGG [A/T] TTGCTTCTACTTCAGGCAGTGTCGT	W	51