Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q15334

Entry ID Method Resolution Chain Position Source
AF-Q15334-F1 Predicted AlphaFoldDB

932 variants for Q15334

Variant ID(s) Position Change Description Diseaes Association Provenance
CA398588353
rs1489396501
2 M>L No ClinGen
TOPMed
gnomAD
CA398588366
rs1203200603
3 K>R No gnomAD
ClinGen
rs1201637677
CA398588379
5 R>W No TOPMed
ClinGen
rs1322957849
CA398588383
6 F>V No TOPMed
ClinGen
rs1263874188
CA398588392
7 R>W No TOPMed
ClinGen
CA398588398
rs1240319536
8 R>Q No Ensembl
ClinGen
rs1260702126
CA398588397
8 R>W No gnomAD
ClinGen
CA8426336
rs200829360
11 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1383002095
CA398588423
12 D>G No ClinGen
gnomAD
CA398588431
rs1443526113
13 P>Q No ClinGen
TOPMed
gnomAD
rs779701944
CA398588464
18 L>I No ExAC
TOPMed
gnomAD
ClinGen
CA8426337
rs779701944
18 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1335359921
CA398588475
19 K>N No TOPMed
ClinGen
rs1288659546
CA398588510
22 L>P No gnomAD
ClinGen
CA398588525
rs1056821372
23 F>L No ClinGen
TOPMed
gnomAD
rs1386053897
CA398588517
23 F>V No gnomAD
ClinGen
rs751173255
CA8426338
24 A>S No ExAC
gnomAD
ClinGen
CA398588560
rs1302983559
25 F>L No ClinGen
TOPMed
CA288427491
rs896304706
27 K>R No ClinGen
TOPMed
gnomAD
CA398588781
rs1375589655
28 T>A No TOPMed
ClinGen
rs1335087294
CA398588784
28 T>I No ClinGen
gnomAD
rs1335087294
CA398588782
28 T>N No gnomAD
ClinGen
TCGA novel 32 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs115967277
RCV000957558
CA8426347
35 N>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs115967277
CA8426348
35 N>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA398588855
rs772520170
38 S>R No ExAC
TOPMed
gnomAD
ClinGen
rs376398557
CA8426350
COSM1213449
39 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
gnomAD
CA398588865
rs1371355472
40 L>P No ClinGen
gnomAD
CA8426351
rs760918366
41 A>S No ExAC
gnomAD
ClinGen
CA398588867
rs760918366
41 A>T No ClinGen
ExAC
gnomAD
rs1597859284
CA398588880
43 D>N No Ensembl
ClinGen
rs1317423015
CA398588889
44 P>A No ClinGen
TOPMed
gnomAD
rs141705015
CA8426353
44 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141705015
CA398588892
44 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398588906
rs1322407439
46 L>H No gnomAD
ClinGen
rs540140275
CA8426355
47 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA8426356
rs368206803
47 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA8426357
rs368206803
47 R>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA398588910
rs1479408293
48 I>V No TOPMed
gnomAD
ClinGen
CA8426358
rs766097233
49 M>T No ExAC
gnomAD
ClinGen
CA398588918
rs1180516758
49 M>V No TOPMed
ClinGen
CA8426360
rs751226368
51 I>F No ExAC
gnomAD
ClinGen
CA398588935
rs145857913
51 I>M No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs751226368
CA8426359
51 I>V No ExAC
gnomAD
ClinGen
CA8426362
rs752191168
52 G>S No ClinGen
ExAC
gnomAD
CA398588957
rs755632435
54 R>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 56 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746307176
CA8426365
59 K>R No ClinGen
ExAC
gnomAD
CA8426385
rs759038245
61 Y>C No ClinGen
ExAC
gnomAD
CA398589530
rs1364849320
61 Y>N No gnomAD
ClinGen
rs780673566
CA8426386
63 A>V No ClinGen
ExAC
gnomAD
rs918284262
CA398589575
64 P>A No ClinGen
TOPMed
gnomAD
rs747380008
CA8426387
64 P>L No ClinGen
ExAC
gnomAD
CA398589580
rs747380008
64 P>R No ClinGen
ExAC
gnomAD
rs918284262
CA288429173
64 P>S No ClinGen
TOPMed
gnomAD
rs374850782
CA288429175
66 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
CA398589655
rs1183168383
68 F>L No Ensembl
ClinGen
rs1219582722
CA398589661
69 T>A No ClinGen
gnomAD
TCGA novel 69 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1490642915
CA398589689
70 G>D No ClinGen
gnomAD
CA398589695
rs139741665
71 L>V No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA8426393
COSM3402647
rs369006714
73 R>Q central_nervous_system Variant assessed as Somatic; 4.627e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA288429178
rs1024725728
73 R>W No TOPMed
ClinGen
CA8426395
rs774253367
74 D>E No ExAC
gnomAD
ClinGen
CA8426394
rs576744666
74 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs759275617
CA8426396
77 T>A No ClinGen
ExAC
gnomAD
rs767307584
CA8426397
79 T>A No ExAC
TOPMed
gnomAD
ClinGen
CA8426398
rs767307584
79 T>S No ExAC
TOPMed
gnomAD
ClinGen
CA398589764
rs1325298231
81 M>T No gnomAD
ClinGen
rs1431722178
CA398589772
82 H>R No ClinGen
TOPMed
rs753436865
CA8426401
85 T>I No ClinGen
ExAC
rs940190734
CA288429190
86 G>S No ClinGen
gnomAD
CA8426403
rs767014581
87 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 88 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA288429208
rs779949594
88 G>S No ClinGen
Ensembl
COSM1381311
rs775418941
CA8426417
89 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775418941
CA398589826
89 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8426418
rs749131027
89 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs71367436
CA288429211
90 L>F No Ensembl
ClinGen
TCGA novel 92 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 96 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1597863482
CA398589873
97 S>G No Ensembl
ClinGen
rs761438520
CA8426421
98 S>G No ClinGen
ExAC
gnomAD
rs998383327
CA288429215
98 S>N No ClinGen
TOPMed
TCGA novel 100 H>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1479734964
CA398589895
100 H>R No TOPMed
ClinGen
rs1179723273
CA398589909
102 W>S No ClinGen
gnomAD
rs1266211375
CA398589927
104 I>T No ClinGen
TOPMed
rs1231129089
CA398589931
105 V>F No ClinGen
TOPMed
gnomAD
CA398589929
rs1231129089
105 V>I No TOPMed
gnomAD
ClinGen
rs1025290378
CA398589938
106 H>P No ClinGen
TOPMed
gnomAD
rs767907165
CA8426425
106 H>Q No ExAC
TOPMed
gnomAD
ClinGen
rs1025290378
CA288429218
106 H>R No ClinGen
TOPMed
gnomAD
rs760147317
CA8426424
106 H>Y No ExAC
gnomAD
ClinGen
rs373799486
CA8426428
107 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8426427
rs558854973
107 H>Y No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs754022666
CA8426429
110 C>Y No ExAC
gnomAD
ClinGen
CA398589978
rs1597863619
112 H>P No Ensembl
ClinGen
rs1326223817
CA398589987
114 E>Q No gnomAD
ClinGen
rs1335717718
CA398589991
114 E>V No ClinGen
gnomAD
CA288429227
rs1017100617
115 E>Q No ClinGen
TOPMed
rs1282519481
CA398590001
116 A>T No TOPMed
ClinGen
rs1410905624
CA398590007
117 L>F No gnomAD
ClinGen
rs1290741505
CA398590012
117 L>R No gnomAD
ClinGen
CA8426430
rs757338252
118 S>G No ExAC
TOPMed
gnomAD
ClinGen
rs1567687678
CA398590025
119 F>S No Ensembl
ClinGen
COSM110168
rs140543375
CA288429230
120 Q>* skin [Cosmic] No Ensembl
ClinGen
cosmic curated
rs772083796
CA8426433
124 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs745927303
CA8426432
124 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA8426434
rs779831824
125 P>L No ExAC
gnomAD
ClinGen
CA8426436
rs768529419
126 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA288429235
rs924730992
128 D>N No TOPMed
ClinGen
CA8426461
rs770309166
133 P>A No ExAC
gnomAD
ClinGen
rs149627877
CA8426462
133 P>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1597865184
CA398590910
137 T>P No Ensembl
ClinGen
CA8426465
rs777016863
138 R>G No ExAC
TOPMed
gnomAD
ClinGen
rs532188095
CA8426466
138 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs758508072
CA8426469
139 V>A No ExAC
ClinGen
CA8426468
rs750569469
139 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA398590923
rs1597865223
140 T>P No Ensembl
ClinGen
rs1468685547
CA398590933
141 V>A No ClinGen
TOPMed
rs1389700764
CA398590937
142 V>F No gnomAD
ClinGen
CA398590955
rs1478042049
145 V>A No TOPMed
ClinGen
rs148767669
CA288430680
147 A>V No ESP
gnomAD
ClinGen
rs2290505
CA398590969
148 S>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
VAR_058710
rs2290505
CA8426476
148 S>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2290505
CA398590968
148 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8426478
rs777515946
149 D>N No ClinGen
ExAC
gnomAD
rs1260858294
CA398590988
150 I>M No ClinGen
gnomAD
CA8426479
rs139586754
151 A>V No ESP
ExAC
gnomAD
ClinGen
CA398590994
rs1258898048
152 A>T No gnomAD
ClinGen
rs779012833
CA8426480
COSM321407
152 A>V lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1413085163
CA398591031
158 S>G No ClinGen
gnomAD
CA8426483
rs769212595
160 V>I No ClinGen
ExAC
gnomAD
CA398591063
rs1597865403
162 F>S No Ensembl
ClinGen
rs1219905152
CA398591073
164 D>H No TOPMed
ClinGen
CA398591080
rs1304620114
165 V>I No ClinGen
gnomAD
rs1597865428
CA398591086
166 T>P No ClinGen
Ensembl
CA398591094
rs1597865435
167 T>P No ClinGen
Ensembl
CA398591103
rs1597865445
169 T>P No ClinGen
Ensembl
rs140418988
CA8426489
172 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1446512968
CA398591128
CA398591129
173 G>R No TOPMed
ClinGen
CA8426490
rs751755671
175 T>M No ClinGen
ExAC
gnomAD
CA398591160
rs1179042246
178 P>S No Ensembl
ClinGen
CA398591169
rs1479951682
179 G>A No ClinGen
TOPMed
gnomAD
CA8426492
COSM240495
rs767574625
180 E>K prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs752613461
CA398591177
181 V>F No ExAC
TOPMed
gnomAD
ClinGen
rs1597865533
CA398591181
181 V>G No ClinGen
Ensembl
rs752613461
CA8426493
181 V>I No ExAC
TOPMed
gnomAD
ClinGen
rs752613461
CA398591178
181 V>L No ExAC
TOPMed
gnomAD
ClinGen
rs1036846915
COSM472383
CA288430700
183 R>C kidney [Cosmic] No TOPMed
gnomAD
ClinGen
cosmic curated
rs755966163
CA8426494
183 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398591214
rs1321356951
185 V>A No ClinGen
gnomAD
RCV000894275
rs115399906
CA8426511
185 V>M No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs372427725
CA8426512
187 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398591223
rs1436923796
187 D>N No ClinGen
gnomAD
CA8426514
rs756991504
188 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA8426516
rs750040535
190 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM1679628
rs757927589
CA8426517
190 R>H Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ExAC
gnomAD
ClinGen
cosmic curated
NCI-TCGA
TCGA novel 191 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1249765972
CA398591251
191 C>Y No TOPMed
ClinGen
rs1322742767
CA398591260
192 G>A No gnomAD
ClinGen
rs1322742767
CA398591259
192 G>E No ClinGen
gnomAD
CA398591257
rs1181590424
192 G>R No TOPMed
ClinGen
CA398591285
rs1277040400
196 G>A No ClinGen
TOPMed
CA8426518
rs779589017
197 P>S No ExAC
gnomAD
ClinGen
CA8426520
rs770272015
198 V>M No ExAC
gnomAD
ClinGen
CA8426521
rs778330511
202 Q>* No ClinGen
ExAC
gnomAD
TCGA novel 202 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1166600948
CA398591328
203 G>A No gnomAD
ClinGen
rs1386002613
CA398591332
204 H>Y No gnomAD
ClinGen
rs1253880646
CA398591340
205 L>P No ClinGen
gnomAD
rs1433828535
CA398591339
205 L>V No ClinGen
gnomAD
rs759780470
CA8426525
206 R>Q No ExAC
TOPMed
gnomAD
ClinGen
rs774743121
CA8426524
206 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1284180579
CA398591346
207 D>H No TOPMed
gnomAD
ClinGen
rs1284180579
CA398591348
207 D>N No TOPMed
gnomAD
ClinGen
rs775468676
CA8426527
210 K>T No ExAC
gnomAD
ClinGen
CA398591373
rs1266550940
211 I>L No ClinGen
gnomAD
rs1328766677
CA398591382
212 L>F No gnomAD
ClinGen
CA8426528
rs760800353
215 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA398591409
rs984797366
216 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs753745117
CA8426531
216 S>R No ExAC
gnomAD
ClinGen
rs984797366
CA288430737
216 S>T No ClinGen
TOPMed
gnomAD
CA398591413
rs1183392423
217 R>Q No ClinGen
TOPMed
gnomAD
CA288430739
rs866315621
217 R>W No gnomAD
ClinGen
CA398591432
rs1159502964
221 V>I No gnomAD
ClinGen
CA398591444
rs1412285420
222 I>M No ClinGen
gnomAD
CA8426534
rs758087102
224 N>K No ClinGen
ExAC
gnomAD
rs373843544
CA8426535
227 S>L No ExAC
gnomAD
ClinGen
CA8426538
rs149080712
228 Q>K No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs145917490
CA288430746
228 Q>R No ESP
TOPMed
gnomAD
ClinGen
rs1462783940
CA398591487
229 C>R No TOPMed
ClinGen
CA8426539
rs749760771
230 V>M No ExAC
TOPMed
gnomAD
ClinGen
rs1472997591
CA398591502
231 D>G No TOPMed
ClinGen
rs779466517
CA398591499
231 D>H No ExAC
TOPMed
gnomAD
ClinGen
CA8426541
rs779466517
231 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1444188863
CA398591510
232 H>R No ClinGen
TOPMed
gnomAD
CA8426542
rs746200923
232 H>Y No ClinGen
ExAC
gnomAD
TCGA novel 234 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs138737182
CA8426543
236 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8426544
rs775727708
237 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA8426565
rs757876816
242 S>N No ExAC
TOPMed
gnomAD
ClinGen
CA398591617
rs1324515627
242 S>R No ClinGen
gnomAD
CA398591635
rs1296878887
245 W>* No ClinGen
gnomAD
CA398591637
rs1341380896
245 W>* No ClinGen
gnomAD
rs1239878261
CA398591633
245 W>G No ClinGen
TOPMed
gnomAD
CA288430794
rs1034438992
246 G>A No ClinGen
Ensembl
rs1229124114
CA398591641
246 G>R No ClinGen
gnomAD
CA8426568
rs376301967
247 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1208994454
CA398591665
249 S>I No ClinGen
gnomAD
rs1208994454
CA398591669
249 S>N No gnomAD
ClinGen
CA398591674
rs780174211
249 S>R No ExAC
gnomAD
ClinGen
rs1230466743
CA398591679
250 S>G No TOPMed
ClinGen
CA398591702
rs1311043672
252 V>M No TOPMed
ClinGen
rs1186139535
CA398591730
254 S>T No TOPMed
gnomAD
ClinGen
CA398591747
rs1449541989
COSM1302475
255 S>L Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs768739480
CA8426571
256 H>D No ClinGen
ExAC
gnomAD
CA398591764
rs776813488
257 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA8426572
rs776813488
257 S>G No ExAC
TOPMed
gnomAD
ClinGen
CA398591776
rs550170712
258 D>N No gnomAD
ClinGen
rs550170712
CA288430809
258 D>Y No ClinGen
gnomAD
rs748223416
CA8426573
260 S>R No ClinGen
ExAC
gnomAD
rs769781235
CA8426574
262 A>S No ClinGen
ExAC
gnomAD
CA398591844
rs1300947465
263 V>A No TOPMed
ClinGen
rs1597866498
CA398591869
265 S>A No Ensembl
ClinGen
rs773075939
CA8426575
266 V>A No ExAC
gnomAD
ClinGen
rs142729015
CA8426576
267 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398591911
rs773895330
268 A>G No ExAC
gnomAD
ClinGen
CA8426578
rs773895330
268 A>V No ClinGen
ExAC
gnomAD
rs1039273683
CA288430818
269 G>S No ClinGen
TOPMed
gnomAD
rs1189647686
CA398591951
272 P>R No ClinGen
TOPMed
rs933462750
CA288430822
273 T>A No TOPMed
gnomAD
ClinGen
CA8426581
rs572067853
273 T>M Variant assessed as Somatic; 4.834e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398591956
rs572067853
273 T>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765847950
CA8426583
275 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA398591969
rs1423678439
276 P>T No gnomAD
ClinGen
rs541724642
CA288430830
277 T>K No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA8426584
rs541724642
277 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398591975
rs1597866598
277 T>P No ClinGen
Ensembl
CA398591979
rs1158754832
278 V>I No ClinGen
gnomAD
rs1158754832
CA398591981
278 V>L No gnomAD
ClinGen
CA8426587
rs751840897
280 T>A No ExAC
gnomAD
ClinGen
CA398591995
rs1301123851
280 T>I No ClinGen
gnomAD
rs1567689191
CA398591997
281 T>A No ClinGen
Ensembl
rs781379755
CA8426589
282 P>A No ClinGen
ExAC
gnomAD
rs1296351196
CA398592006
282 P>L No TOPMed
ClinGen
CA8426590
rs767559015
283 Y>* No ClinGen
ExAC
gnomAD
CA8426617
rs760456293
285 P>H No ExAC
gnomAD
ClinGen
CA398592035
rs1259794786
285 P>T No ClinGen
gnomAD
rs1366405617
CA398592045
286 F>L No ClinGen
gnomAD
CA8426618
rs768394902
287 P>T No ClinGen
ExAC
gnomAD
rs776347706
CA8426619
290 A>P No ExAC
gnomAD
ClinGen
TCGA novel 292 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398592099
rs1397132164
294 I>T No TOPMed
ClinGen
rs1275935937
CA398592108
296 W>R No gnomAD
ClinGen
CA8426620
rs761217001
297 R>Q No ExAC
TOPMed
gnomAD
ClinGen
CA288430978
rs914359986
297 R>W No TOPMed
ClinGen
CA625315992
rs1219764329
299 C>* No gnomAD
ClinGen
CA398592130
rs1246381038
299 C>Y No ClinGen
gnomAD
rs766923153
CA8426621
300 E>G No ClinGen
ExAC
gnomAD
rs1021368688
CA288431071
303 G>D No TOPMed
ClinGen
CA8426649
rs575031000
303 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8426650
rs750487037
307 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA398592200
rs1264405374
308 F>V No ClinGen
gnomAD
rs1045480644
CA288431084
309 S>G No ClinGen
TOPMed
CA8426652
CA398592231
rs372476783
312 M>I No ClinGen
ESP
ExAC
gnomAD
CA8426654
rs754753711
314 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA398592241
rs1286359996
314 R>H No TOPMed
gnomAD
ClinGen
CA8426655
rs780930152
317 Y>C No ExAC
TOPMed
gnomAD
ClinGen
CA398592281
rs1471753872
320 R>C No TOPMed
ClinGen
rs1236793920
CA398592282
320 R>H No TOPMed
ClinGen
rs769466162
CA398592292
321 H>Q No ExAC
gnomAD
ClinGen
CA398592294
rs1188777529
322 C>R No ClinGen
TOPMed
TCGA novel 323 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1485889954
CA398592301
323 V>I No TOPMed
gnomAD
ClinGen
rs748791635
CA398592327
327 R>* No ExAC
TOPMed
gnomAD
ClinGen
rs748791635
CA8426659
327 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8426660
COSM269498
rs150688696
327 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ESP
ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA8426662
rs761027899
329 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
TCGA novel 332 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398592367
rs1334135770
333 T>M No ClinGen
gnomAD
rs761985510
CA8426665
339 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs1417041190
CA398592401
339 R>S No ClinGen
gnomAD
CA398592414
rs1240100045
341 I>V No gnomAD
ClinGen
rs763070749
CA8426669
342 D>E No ClinGen
ExAC
gnomAD
CA398592420
rs1343021624
342 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8426670
rs751503572
343 F>S No ClinGen
ExAC
gnomAD
CA8426671
rs754841562
345 T>A No ExAC
TOPMed
gnomAD
ClinGen
CA398592462
rs1212774836
347 H>R No gnomAD
ClinGen
rs780898751
CA8426672
348 S>G No ClinGen
ExAC
gnomAD
rs752504126
CA8426673
349 T>A No ExAC
gnomAD
ClinGen
CA8426676
rs142159009
350 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8426675
rs374862629
350 R>W No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs780566991
CA8426678
352 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8426679
rs747567402
354 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA8426700
CA8426701
rs572830833
357 D>E No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 359 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8426702
rs146350733
362 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1419688034
CA398592719
366 E>K No TOPMed
ClinGen
rs769051014
CA8426706
370 V>L No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 373 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1253991128
CA398592818
374 L>M No ClinGen
TOPMed
CA398592867
rs1216138391
378 G>D No TOPMed
ClinGen
CA398592894
rs1597868320
380 P>A No ClinGen
Ensembl
rs1319899736
CA398592930
383 P>L No gnomAD
ClinGen
CA288431232
rs1045071932
385 P>A No ClinGen
TOPMed
CA398592953
rs1384184580
385 P>L No ClinGen
TOPMed
gnomAD
rs201923491
CA288431235
386 Y>H No ClinGen
TOPMed
CA398592988
rs1338527373
388 A>V No gnomAD
ClinGen
CA288431238
rs557754934
389 P>L No ClinGen
gnomAD
CA398593007
rs1597868396
391 H>P No Ensembl
ClinGen
rs1370044522
CA398593016
392 S>C No ClinGen
TOPMed
TCGA novel 392 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398593023
rs1226054204
393 S>F No TOPMed
gnomAD
ClinGen
CA8426711
rs372720962
394 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8426713
rs144290841
395 I>V No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA398593048
rs1254657194
397 C>* No gnomAD
ClinGen
rs1207449138
CA398593046
397 C>F No gnomAD
ClinGen
rs1207449138
CA398593044
397 C>Y No gnomAD
ClinGen
rs370740868
CA8426714
398 S>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA398593058
rs1238461177
399 A>V No gnomAD
ClinGen
CA398593067
rs145217563
400 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1597868483
CA398593071
401 V>G No Ensembl
ClinGen
rs756557977
CA398593069
401 V>L No ExAC
TOPMed
gnomAD
ClinGen
rs756557977
CA8426717
401 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1158643631
CA398593077
402 A>S No ClinGen
gnomAD
rs1597868504
CA398593108
404 V>A No Ensembl
ClinGen
rs778321001
CA8426718
405 P>A No ClinGen
ExAC
gnomAD
CA8426720
rs142722516
406 A>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA288431280
rs943348595
406 A>V No ClinGen
Ensembl
CA8426721
rs774656989
407 K>N No ClinGen
ExAC
gnomAD
rs1357116437
CA398593166
409 W>* No gnomAD
ClinGen
CA8426722
rs745937164
410 A>T No ExAC
gnomAD
ClinGen
CA398593186
rs1305809175
410 A>V No gnomAD
ClinGen
CA398593192
rs1317036340
411 R>C No ClinGen
TOPMed
gnomAD
CA8426723
rs772147066
COSM3818970
411 R>H Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398593199
rs1597868600
412 I>L No Ensembl
ClinGen
rs1212066757
CA398593211
413 V>M No ClinGen
gnomAD
CA398593232
rs1260130755
414 S>N No gnomAD
ClinGen
CA398593236
rs760713823
414 S>R No ClinGen
ExAC
gnomAD
rs764017987
CA8426726
415 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8426728
rs761542780
417 E>K No ExAC
TOPMed
gnomAD
ClinGen
CA8426730
rs151016611
418 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373996132
CA288431305
418 Q>R No ClinGen
ESP
rs1393210408
CA398593302
419 Q>H No TOPMed
gnomAD
ClinGen
CA398593314
rs1294840890
420 S>I No TOPMed
ClinGen
rs184038029
CA8426731
420 S>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1174179332
CA398593347
423 P>S No gnomAD
ClinGen
rs751001689
CA398593376
425 S>F No ClinGen
ExAC
gnomAD
CA398593373
rs1297270815
425 S>T No ClinGen
gnomAD
rs751001689
CA8426733
425 S>Y No ClinGen
ExAC
gnomAD
rs1292938743
CA398593524
430 W>* No ClinGen
gnomAD
rs770630309
CA288431415
430 W>* No ClinGen
ExAC
gnomAD
rs770630309
CA8426772
430 W>C No ExAC
gnomAD
ClinGen
CA398593562
rs1446500828
433 T>I No ClinGen
gnomAD
CA8426774
rs201308585
433 T>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA398593561
rs1446500828
433 T>S No ClinGen
gnomAD
CA398593573
rs1242612680
435 G>A No gnomAD
ClinGen
rs752229503
CA8426776
436 R>* No ExAC
TOPMed
gnomAD
ClinGen
rs376382164
CA8426777
436 R>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA398593582
rs1416722210
437 N>S No gnomAD
ClinGen
rs186995213
CA8426778
439 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1405214472
CA398593600
440 Q>R No ClinGen
gnomAD
rs890214481
CA288431437
441 E>G No TOPMed
ClinGen
CA8426779
rs371262121
442 P>L No 1000Genomes
ESP
ExAC
gnomAD
ClinGen
rs1042985836
CA398593642
443 S>* No gnomAD
ClinGen
rs1042985836
CA288431445
443 S>L No gnomAD
ClinGen
rs1182080597
CA398593645
444 Q>K No TOPMed
ClinGen
CA398593661
rs1413321606
445 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs376148449
CA8426782
445 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs376148449
CA8426781
445 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs147811258
CA8426783
446 G>E No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA398593679
rs1416932184
447 L>M No gnomAD
ClinGen
rs1350111873
CA398593698
449 L>M No gnomAD
ClinGen
CA8426787
rs141275484
450 T>M No ClinGen
ESP
ExAC
gnomAD
rs1455880387
CA398594043
452 H>Y No ClinGen
gnomAD
rs1396060229
CA398594055
453 E>D No gnomAD
ClinGen
CA8426810
rs771867490
453 E>Q No ExAC
TOPMed
gnomAD
ClinGen
CA8426812
rs746563628
455 G>S No ExAC
TOPMed
gnomAD
ClinGen
CA8426814
rs529354628
457 V>M No ExAC
TOPMed
gnomAD
ClinGen
CA8426816
rs368131949
458 R>K No ESP
ExAC
gnomAD
ClinGen
TCGA novel 458 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763411085
CA8426815
458 R>W No ExAC
gnomAD
ClinGen
rs1334728254
CA398594103
461 D>H No ClinGen
TOPMed
gnomAD
CA398594119
rs1338497657
463 S>* No gnomAD
ClinGen
CA398594121
rs1338497657
463 S>L Variant assessed as Somatic; 9.311e-05 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
rs776966875
CA8426819
466 A>V No ExAC
TOPMed
gnomAD
ClinGen
CA8426822
rs764124548
468 R>Q No ExAC
TOPMed
gnomAD
ClinGen
CA8426823
rs544675510
469 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs761575582
CA8426825
470 L>I No ClinGen
ExAC
gnomAD
rs149027239
CA8426827
471 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398594185
rs1415904646
474 S>R No TOPMed
gnomAD
ClinGen
CA8426828
rs779878241
475 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs746693280
CA8426829
477 G>D No ClinGen
ExAC
gnomAD
rs200589712
CA8426830
478 L>F No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs549478417
CA288431762
483 C>R No ExAC
TOPMed
gnomAD
ClinGen
rs549478417
CA8426831
483 C>S No ExAC
TOPMed
gnomAD
ClinGen
CA8426832
rs747682790
484 E>G No ExAC
gnomAD
ClinGen
CA398594278
rs1325693797
485 H>P No ClinGen
gnomAD
rs1063682
CA288431766
486 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1063682
CA8426834
486 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398594339
rs772373097
490 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs759924065
CA8426835
490 A>T No ExAC
TOPMed
gnomAD
ClinGen
CA8426836
rs772373097
490 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA398594355
rs1597871252
491 Q>H No Ensembl
ClinGen
CA8426838
rs148379302
493 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398594391
rs1567691558
494 E>D No Ensembl
ClinGen
rs761888691
CA8426841
494 E>K No ClinGen
ExAC
gnomAD
rs750340360
CA8426843
496 D>N No ClinGen
ExAC
gnomAD
rs1400878692
CA398594448
498 P>L No TOPMed
ClinGen
CA8426845
rs780035374
499 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA8426846
COSM3937277
rs751365881
501 R>C oesophagus [Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs371648907
CA8426847
501 R>H No ESP
ExAC
gnomAD
ClinGen
rs371648907
CA398594481
501 R>L No ClinGen
ESP
ExAC
gnomAD
rs1597871501
CA398594596
507 D>E No Ensembl
ClinGen
rs1567691664
CA398594584
507 D>N No Ensembl
ClinGen
rs1420293004
CA398594610
508 P>L No gnomAD
ClinGen
CA8426861
rs202012728
511 D>E No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs766407468
CA8426862
512 D>E No ExAC
gnomAD
ClinGen
CA398594656
rs1373442315
512 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
rs751327252
CA398594674
513 P>S No ExAC
TOPMed
gnomAD
ClinGen
CA8426863
rs751327252
513 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs372430699
CA398594686
514 R>P No ESP
TOPMed
gnomAD
ClinGen
CA288431793
rs372430699
514 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
CA288431794
rs952086581
515 L>F No TOPMed
gnomAD
ClinGen
CA398594708
rs1389190696
516 G>A No ClinGen
TOPMed
gnomAD
CA8426866
rs145135032
517 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8426865
rs145135032
517 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 518 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA288431804
rs1001456408
518 Q>R No ClinGen
TOPMed
rs1395698871
CA398594729
519 K>M No ClinGen
TOPMed
gnomAD
TCGA novel 520 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200183472
CA8426869
521 A>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA8426868
rs200183472
521 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1347642646
CA398594744
522 L>F No ClinGen
TOPMed
gnomAD
CA398594743
rs1347642646
522 L>V No TOPMed
gnomAD
ClinGen
rs758961125
CA8426870
524 K>R No ClinGen
ExAC
gnomAD
rs1466779777
CA398594785
526 T>A No TOPMed
ClinGen
CA8426871
rs146378867
527 A>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1441589377
CA398594820
529 M>V No ClinGen
gnomAD
CA398594858
rs1393148003
532 A>T No gnomAD
ClinGen
CA398594881
rs1323159739
534 T>A No TOPMed
ClinGen
CA398594996
rs1320196496
538 V>L No gnomAD
ClinGen
rs1320196496
CA398594992
538 V>M No ClinGen
gnomAD
rs138406543
CA288431990
539 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398595004
rs1269813675
540 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA8426890
rs755410073
542 E>Q No ClinGen
ExAC
CA8426891
rs781669092
543 L>F No ClinGen
ExAC
gnomAD
rs748514739
CA398595047
544 S>N No ExAC
gnomAD
ClinGen
rs748514739
CA8426892
544 S>T No ClinGen
ExAC
gnomAD
rs1263478058
CA398595090
547 P>L No ClinGen
gnomAD
rs1416579219
CA398595124
550 Q>* No ClinGen
TOPMed
gnomAD
rs1416579219
CA398595123
550 Q>E No TOPMed
gnomAD
ClinGen
rs1063683
VAR_058711
550 Q>H No UniProt
dbSNP
rs749413165
CA8426895
551 A>V No ExAC
TOPMed
gnomAD
ClinGen
CA398595152
rs1343877721
552 V>I No ClinGen
gnomAD
CA8426898
rs759554948
554 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs373780909
CA8426899
555 A>V No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1230059297
CA398595220
557 I>T No ClinGen
TOPMed
gnomAD
rs1048417132
CA288432021
557 I>V No TOPMed
gnomAD
ClinGen
TCGA novel 558 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398595246
rs1359446937
559 L>H No TOPMed
ClinGen
CA398595256
rs1214972176
560 L>F No gnomAD
ClinGen
CA398595252
rs1214972176
560 L>I No ClinGen
gnomAD
rs1597872642
CA398595262
561 Q>K No ClinGen
Ensembl
CA8426902
rs760402511
562 D>E No ExAC
gnomAD
ClinGen
rs763738289
CA8426903
563 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8426905
rs377512205
563 R>H No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA8426904
rs377512205
563 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764843900
CA8426906
564 E>K No ExAC
gnomAD
ClinGen
CA8426907
rs749897947
567 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1400705772
CA398595354
568 W>* No gnomAD
ClinGen
rs753120323
CA398595409
572 E>* No ExAC
TOPMed
gnomAD
ClinGen
rs753120323
CA8426910
572 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8426912
rs531770044
573 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA8426911
rs756510000
573 R>W No ExAC
TOPMed
gnomAD
ClinGen
CA8426914
rs771024336
575 S>T No ExAC
gnomAD
ClinGen
CA8426916
rs377198347
577 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA288432054
rs1006575220
577 R>H No TOPMed
gnomAD
ClinGen
rs1006575220
CA398595470
577 R>L No TOPMed
gnomAD
ClinGen
CA8426917
rs772059315
578 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1279174501
CA398595483
579 G>R No gnomAD
ClinGen
CA8426920
rs1063685
580 P>L No ExAC
TOPMed
gnomAD
ClinGen
CA398595498
rs1063685
580 P>Q No ExAC
TOPMed
gnomAD
ClinGen
CA398595533
rs1278439187
583 W>* No ClinGen
TOPMed
rs1246242094
CA398595553
585 A>T No gnomAD
ClinGen
rs764784217
CA8426923
587 F>L No ClinGen
ExAC
gnomAD
CA8426924
rs749966761
587 F>L No ExAC
TOPMed
gnomAD
ClinGen
CA398595576
rs1567692502
588 Q>* No ClinGen
Ensembl
rs1063686
CA288432071
590 R>C No TOPMed
gnomAD
ClinGen
CA8426925
rs776809019
590 R>H No ExAC
TOPMed
gnomAD
ClinGen
rs571000675
CA288432082
597 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
CA8426931
rs757553068
598 P>S No ClinGen
ExAC
gnomAD
rs139750751
CA398595760
603 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139750751
CA8426933
603 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780087503
CA8426935
604 V>A No ClinGen
ExAC
gnomAD
rs1220640932
CA398595833
609 E>K No ClinGen
gnomAD
CA8426938
rs776468893
613 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA398595933
rs1240585109
615 F>Y No gnomAD
ClinGen
CA398595943
rs1467572089
616 G>S No ClinGen
gnomAD
CA8426939
rs747843543
617 T>N No ExAC
TOPMed
gnomAD
ClinGen
rs547373553
CA8426940
618 S>G No ClinGen
1000Genomes
ExAC
gnomAD
CA8426941
rs772703554
619 H>R No ExAC
gnomAD
ClinGen
rs536563008
CA8426944
625 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1392367069
CA398596104
626 Y>C No TOPMed
gnomAD
ClinGen
rs1392367069
CA398596102
626 Y>S No ClinGen
TOPMed
gnomAD
CA8426945
rs374938197
627 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8426946
rs764681199
628 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs144655159
CA8426947
628 R>H No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs144655159
CA398596136
628 R>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs757496603
CA8426948
629 K>E No ExAC
TOPMed
gnomAD
ClinGen
rs1381742172
CA398596176
630 S>R No TOPMed
gnomAD
ClinGen
CA8426949
rs765526913
631 P>S No ExAC
gnomAD
ClinGen
CA8426950
rs140611231
633 L>P No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA398596203
rs1316852425
633 L>V No gnomAD
ClinGen
CA398596216
rs1164212159
634 A>S No ClinGen
TOPMed
rs758589415
CA8426951
635 R>G No ExAC
gnomAD
ClinGen
rs1420033864
CA398597372
639 H>D No TOPMed
gnomAD
ClinGen
CA398597385
rs1597873710
639 H>P No ClinGen
Ensembl
CA398597376
rs1420033864
639 H>Y No ClinGen
TOPMed
gnomAD
rs1050330292
CA288433475
640 P>R No Ensembl
ClinGen
CA8426981
rs377588818
641 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8426979
rs369658890
641 N>S No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA398597504
rs1339260331
645 A>V No TOPMed
ClinGen
rs771657062
CA8426982
646 M>I No ExAC
ClinGen
rs1454153481
CA398597520
646 M>R No ClinGen
TOPMed
rs1397470665
CA398597560
648 G>D No ClinGen
TOPMed
rs775042224
CA8426983
648 G>S No ExAC
gnomAD
ClinGen
CA8426985
rs770323651
649 P>L No ClinGen
ExAC
gnomAD
CA8426987
rs763236973
651 S>F No ExAC
gnomAD
ClinGen
CA8426988
rs766623464
652 R>G No ClinGen
ExAC
gnomAD
CA8426989
rs751735771
652 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs751735771
CA8426991
652 R>P No ExAC
TOPMed
gnomAD
ClinGen
CA8426990
COSM1679629
rs751735771
652 R>Q Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
NCI-TCGA
CA398597622
rs766623464
652 R>W No ClinGen
ExAC
gnomAD
rs752814889
CA8426992
653 V>L No ClinGen
ExAC
gnomAD
rs1436132822
CA398597673
655 S>T No gnomAD
ClinGen
rs777704176
CA8426995
656 L>V No ExAC
gnomAD
ClinGen
rs1379571928
CA398597779
661 R>C No TOPMed
gnomAD
ClinGen
CA8426996
COSM976242
rs138562673
661 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200739800
CA8426997
662 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778729916
CA8426998
663 S>F No ExAC
ClinGen
CA8427000
rs771752705
664 F>L No ExAC
gnomAD
ClinGen
rs376194405
CA8427001
665 R>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA288433525
rs182677018
665 R>W No ClinGen
1000Genomes
TOPMed
gnomAD
CA8427002
rs746469588
666 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8427003
rs770208654
666 R>H Variant assessed as Somatic; 4.761e-05 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA398597852
rs746469588
666 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA398597861
rs1301778941
667 I>M No gnomAD
ClinGen
CA8427004
rs147834323
667 I>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA398597864
rs1311945895
668 R>C No ClinGen
TOPMed
gnomAD
CA8427006
rs531828914
668 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA8427005
rs531828914
668 R>P No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1479716864
CA398597874
669 K>E No ClinGen
gnomAD
CA398597883
rs759817745
669 K>N No ExAC
gnomAD
ClinGen
rs370235992
CA8427009
670 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398597912
rs1458206874
671 R>C No gnomAD
ClinGen
rs374663368
CA8427010
671 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA8427011
rs374663368
671 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8427012
rs763968580
674 G>A No ClinGen
ExAC
gnomAD
CA398598012
rs1176366997
676 K>E No gnomAD
ClinGen
rs757236980
CA8427014
677 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8427013
rs377439323
677 R>W No ClinGen
ESP
ExAC
gnomAD
rs1169411774
CA398598098
681 A>T No ClinGen
gnomAD
CA398598111
rs1400383134
681 A>V No ClinGen
gnomAD
rs1449701375
CA398598119
682 S>C No ClinGen
gnomAD
rs1324448024
CA398598122
682 S>N No gnomAD
ClinGen
CA8427015
rs778891148
682 S>R No ClinGen
ExAC
gnomAD
rs1387668413
CA398598145
683 S>N No gnomAD
ClinGen
rs750231815
CA8427017
684 K>R No ClinGen
ExAC
gnomAD
rs750231815
CA8427016
684 K>T No ExAC
gnomAD
ClinGen
TCGA novel 685 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765210628
CA398598268
686 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA8427033
rs765210628
686 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA398598333
rs1567693533
689 N>H No Ensembl
ClinGen
rs140298639
CA8427034
689 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8427035
rs371605062
690 A>T No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs765973200
CA8427036
693 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1379946062
CA398598430
694 E>V No ClinGen
gnomAD
CA8427037
rs751277985
696 A>D No ExAC
gnomAD
ClinGen
CA288433724
rs751277985
696 A>V No ClinGen
ExAC
gnomAD
rs111836247
CA398598498
697 C>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs111836247
RCV000955519
CA8427038
697 C>Y No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs529634225
CA288433728
698 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs529634225
CA8427039
698 P>R No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1286305114
CA398598518
699 H>N No ClinGen
TOPMed
gnomAD
CA398598525
rs1172079015
699 H>P No TOPMed
ClinGen
CA8427041
rs150963270
699 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1286305114
CA398598523
699 H>Y No TOPMed
gnomAD
ClinGen
rs746245675
CA8427043
700 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs374576025
CA8427045
701 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 702 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747293622
CA8427046
703 M>V No ExAC
TOPMed
gnomAD
ClinGen
rs367727740
CA398598612
704 T>K No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs367727740
CA8427047
704 T>M No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1184140144
CA398598607
704 T>S No gnomAD
ClinGen
CA8427049
rs761920223
706 V>M No ExAC
TOPMed
gnomAD
ClinGen
rs1323584704
CA398598644
707 Q>R No ClinGen
TOPMed
rs1427717726
CA398598655
708 R>C No TOPMed
gnomAD
ClinGen
rs145768685
CA8427051
708 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8427052
rs762781844
709 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8427053
rs766240619
709 R>H Variant assessed as Somatic; 4.746e-05 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA398598670
rs766240619
709 R>L No ExAC
TOPMed
gnomAD
ClinGen
CA8427055
rs754721408
713 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs767095694
CA8427056
713 R>H No ExAC
TOPMed
gnomAD
ClinGen
CA8427057
rs767095694
713 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs186632359
CA8427058
715 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs779411587
CA8427059
716 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1235811122
CA398598726
717 D>V No ClinGen
TOPMed
gnomAD
CA398598735
rs1420423222
718 S>F No ClinGen
TOPMed
rs1179779082
CA398598738
719 L>S No gnomAD
ClinGen
CA8427061
rs150088817
720 S>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs747320752
CA8427063
721 G>R No ClinGen
ExAC
gnomAD
CA288433799
rs1054009589
723 V>M No ClinGen
TOPMed
rs138380942
CA8427065
724 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
gnomAD
ClinGen
NCI-TCGA
COSM976244
CA398598766
rs1168692993
724 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs773136651
CA8427068
727 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1337336803
CA398598790
728 F>V No gnomAD
ClinGen
rs553954291
CA8427071
730 D>E No 1000Genomes
ExAC
gnomAD
ClinGen
CA8427070
rs770764753
730 D>N No ClinGen
ExAC
gnomAD
CA8427074
rs752294347
732 F>S No ClinGen
ExAC
gnomAD
CA398598828
rs760297874
734 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA8427075
rs760297874
734 R>G No ClinGen
ExAC
gnomAD
rs763698681
CA8427076
735 D>V No ExAC
gnomAD
ClinGen
rs749412345
CA8427110
737 A>V No ClinGen
ExAC
gnomAD
rs745844805
CA8427113
738 H>Q No ExAC
gnomAD
ClinGen
rs779025594
CA8427112
738 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA398599725
rs771990753
739 H>D No ExAC
TOPMed
gnomAD
ClinGen
rs771990753
CA8427115
739 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs752464459
CA8427117
739 H>Q No ExAC
TOPMed
gnomAD
ClinGen
rs771990753
CA8427114
739 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs776098319
CA8427118
740 G>R No ExAC
gnomAD
ClinGen
CA8427119
rs761506647
741 P>A No ClinGen
ExAC
gnomAD
rs1426633626
CA398599781
742 T>P No gnomAD
ClinGen
CA398599803
rs1351145641
743 M>I No ClinGen
TOPMed
CA398599793
rs1254226083
743 M>V No gnomAD
ClinGen
TCGA novel 745 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8427121
rs772847310
745 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1385714475
CA398599843
746 G>S No gnomAD
ClinGen
CA288435050
rs943949485
748 N>S No ClinGen
Ensembl
CA8427123
rs373022414
749 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1419975310
CA398599952
752 V>A No ClinGen
TOPMed
gnomAD
CA8427124
rs753120501
752 V>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 753 F>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs899664455
CA288435060
754 A>T No ClinGen
Ensembl
rs376499580
CA288435064
754 A>V No ClinGen
ESP
TOPMed
gnomAD
rs1044239600
CA288435078
759 V>G No TOPMed
ClinGen
rs754054096
CA8427128
CA8427127
759 V>L No ClinGen
ExAC
gnomAD
rs779030616
CA8427129
760 P>L No ExAC
TOPMed
gnomAD
ClinGen
rs138439781
CA288435082
762 A>T No ESP
TOPMed
ClinGen
rs1597878326
CA398600135
762 A>V No ClinGen
Ensembl
rs371026248
CA8427133
764 V>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs371026248
CA398600158
764 V>M No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA8427134
rs779899852
767 E>K No ExAC
gnomAD
ClinGen
CA398600271
rs746829631
769 R>G No ClinGen
ExAC
gnomAD
CA288435101
rs762237113
769 R>Q No ClinGen
Ensembl
CA8427135
rs746829631
769 R>W No ExAC
gnomAD
ClinGen
rs1201050179
CA398600282
770 P>R No gnomAD
ClinGen
rs1344405027
CA398600277
770 P>S No gnomAD
ClinGen
rs1311993467
CA398600321
772 Q>R No TOPMed
ClinGen
CA8427136
rs768385606
773 A>V No ExAC
TOPMed
gnomAD
ClinGen
CA398600352
rs1313348836
774 V>M No gnomAD
ClinGen
rs1176668823
CA398600393
776 A>T No ClinGen
gnomAD
rs200044915
CA8427139
777 V>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs200044915
CA8427140
COSM1381314
777 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1160882932
CA398600442
779 G>S No ClinGen
gnomAD
CA288435131
rs71367438
781 E>K No ClinGen
Ensembl
rs1597878483
CA398600491
782 V>G No ClinGen
Ensembl
CA398600502
rs1176607445
783 Q>* No ClinGen
gnomAD
rs1354016846
CA398600510
783 Q>R No TOPMed
gnomAD
ClinGen
CA398600577
rs776086566
786 H>Q No ClinGen
ExAC
gnomAD
rs1010301473
CA288435139
786 H>R No TOPMed
ClinGen
CA398600564
rs1331204481
786 H>Y No gnomAD
ClinGen
rs1013140459
CA288435166
787 R>Q No gnomAD
ClinGen
rs761220197
CA8427145
787 R>W No ExAC
TOPMed
gnomAD
ClinGen
CA398600599
rs1330800868
788 A>T No ClinGen
gnomAD
CA8427146
rs764402601
788 A>V No ClinGen
ExAC
gnomAD
CA398600653
rs1416165320
791 V>M No ClinGen
TOPMed
rs765385109
CA8427149
793 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA398600719
rs1257304921
794 A>V No gnomAD
ClinGen
CA8427151
rs371253354
795 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8427152
rs780085591
796 L>W No ClinGen
ExAC
TOPMed
gnomAD
CA8427154
rs754941025
798 G>R No ExAC
gnomAD
ClinGen
rs973507004
CA288435246
799 R>C No gnomAD
ClinGen
rs780909473
CA8427155
799 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs747922114
CA8427156
800 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs769578330
CA8427157
801 R>C No ExAC
TOPMed
gnomAD
ClinGen
rs777531176
CA8427158
801 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs148326696
CA288435293
805 E>K No ClinGen
ESP
gnomAD
CA8427160
rs770610597
806 P>L No ClinGen
ExAC
gnomAD
rs761149558
CA8427162
807 Y>H No ExAC
TOPMed
gnomAD
ClinGen
rs962174759
CA288435312
808 E>K No ClinGen
TOPMed
gnomAD
CA398600934
rs1307362627
809 A>G No TOPMed
ClinGen
CA8427164
rs776872146
809 A>S No ExAC
TOPMed
gnomAD
ClinGen
rs751648322
CA8427170
811 R>Q No ExAC
TOPMed
gnomAD
ClinGen
rs368288709
CA8427169
811 R>W No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1184013270
CA398600995
812 D>V No ClinGen
TOPMed
CA8427173
rs575121495
814 A>E No 1000Genomes
ExAC
gnomAD
ClinGen
CA288435363
rs575121495
814 A>V No 1000Genomes
ExAC
gnomAD
ClinGen
CA8427175
rs777686147
816 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1399620566
CA398601070
816 A>V No ClinGen
gnomAD
CA288435374
rs1063688
818 D>H No ClinGen
TOPMed
CA398601098
rs1063688
818 D>N No TOPMed
ClinGen
rs1063688
CA398601100
818 D>Y No ClinGen
TOPMed
CA398601135
rs902971774
CA288435397
819 M>I No gnomAD
ClinGen
rs1289558675
CA398601122
CA398601118
819 M>L No ClinGen
TOPMed
gnomAD
rs1320791785
CA398601155
820 Q>R No ClinGen
TOPMed
rs1364140346
CA398601169
821 G>S No ClinGen
gnomAD
CA288435413
rs998576964
822 G>S No gnomAD
ClinGen
rs1310435977
CA398601206
823 H>Y No gnomAD
ClinGen
CA398601228
rs1246363175
824 A>T No gnomAD
ClinGen
TCGA novel 824 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8427177
rs770700565
825 V>A No ExAC
gnomAD
ClinGen
CA398601261
rs1242245617
826 L>F No ClinGen
gnomAD
CA288435436
rs927210820
827 I>V No ClinGen
TOPMed
gnomAD
COSM976246
rs769047769
CA8427180
828 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA8427181
rs777155560
828 A>V No ClinGen
ExAC
gnomAD
CA398601371
rs1160037993
831 E>K No gnomAD
ClinGen
rs1445826394
CA398601388
832 Q>E No gnomAD
ClinGen
rs1301025525
CA398601418
833 F>L No ClinGen
gnomAD
rs1382016360
CA398601428
834 K>R No TOPMed
gnomAD
ClinGen
CA8427201
rs770273813
837 T>I No ClinGen
ExAC
gnomAD
CA8427202
rs773581655
839 P>S No ClinGen
ExAC
gnomAD
CA398601580
rs1433873177
842 S>N No ClinGen
gnomAD
rs774588509
CA8427205
843 A>T No ExAC
TOPMed
gnomAD
ClinGen
CA8427206
rs202238913
843 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8427208
rs147425213
845 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753689203
CA398601634
850 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs753689203
CA8427211
850 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
TCGA novel 851 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8427213
rs764819010
852 H>R No ClinGen
ExAC
gnomAD
rs757983633
CA8427215
853 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA398601655
rs56406965
853 E>D No ClinGen
gnomAD
rs773392427
CA8427217
855 C>Y No ExAC
TOPMed
gnomAD
ClinGen
CA8427218
rs370606765
856 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8427219
rs778217024
856 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA398601672
rs778217024
856 R>L No ExAC
TOPMed
gnomAD
ClinGen
rs1302175961
CA398601677
857 V>A No gnomAD
ClinGen
CA8427220
rs139736306
858 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8427221
rs374323156
858 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8427222
rs201514093
861 A>T No ExAC
TOPMed
gnomAD
ClinGen
CA8427223
rs746164885
861 A>V No ClinGen
ExAC
gnomAD
CA8427225
rs149935184
864 T>K No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs149935184
CA8427226
864 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA288436091
rs56367302
867 S>N No ClinGen
Ensembl
rs761633860
CA8427229
871 E>D No ClinGen
ExAC
gnomAD
CA398601757
rs1261196043
871 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
rs1243730400
CA398601770
872 D>E No TOPMed
gnomAD
ClinGen
CA8427230
rs544061480
872 D>G No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA398601775
rs1471758694
873 Y>C No ClinGen
gnomAD
CA398601772
rs1399853987
873 Y>H No gnomAD
ClinGen
rs1385631206
CA398601796
876 T>I No ClinGen
gnomAD
rs1597880191
CA398601793
876 T>P No ClinGen
Ensembl
rs1156396016
CA398601802
877 C>Y No TOPMed
gnomAD
ClinGen
CA8427233
rs765883586
879 A>V No ClinGen
ExAC
rs1320876946
CA398601829
881 L>P No ClinGen
gnomAD
CA398601835
rs1452507148
882 T>S No ClinGen
gnomAD
CA8427236
rs780662788
884 L>V No ExAC
gnomAD
ClinGen
rs1376913641
CA398601866
887 V>A No ClinGen
TOPMed
gnomAD
CA8427238
rs368324953
887 V>I No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA8427240
rs746158258
889 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8427241
rs772341281
890 F>C No ClinGen
ExAC
rs1182899552
CA398601893
891 S>L No TOPMed
gnomAD
ClinGen
rs1446160158
CA398601895
892 V>L No ClinGen
gnomAD
CA398601902
rs1179261251
893 P>S No gnomAD
ClinGen
rs148650631
CA8427243
894 G>A No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1035106704
CA288436210
896 R>Q No TOPMed
gnomAD
ClinGen
CA8427245
rs776846353
896 R>W No ExAC
gnomAD
ClinGen
rs372321860
CA8427246
897 P>R No ESP
ExAC
gnomAD
ClinGen
rs1063691
CA288436228
898 Q>E No ClinGen
Ensembl
rs1349461957
CA398601927
898 Q>R No TOPMed
ClinGen
CA398601931
rs1337894246
899 V>M No TOPMed
gnomAD
ClinGen
rs200261115
CA8427248
900 H>R No ExAC
TOPMed
gnomAD
ClinGen
CA8427250
rs766039892
902 S>T No ClinGen
ExAC
gnomAD
CA398601973
rs1445509696
904 I>M No TOPMed
ClinGen
rs372721254
CA8427251
904 I>V No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs374728959
CA8427252
905 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398601977
rs1241448295
COSM1381315
905 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No gnomAD
ClinGen
cosmic curated
NCI-TCGA
rs1313438656
CA398601991
906 K>* No TOPMed
ClinGen
CA288436299
rs920246553
908 D>N No ClinGen
Ensembl
rs767085574
CA8427253
909 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA8427255
rs752194023
910 S>R No ExAC
gnomAD
ClinGen
rs368834647
CA8427256
911 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750833588
CA8427257
912 I>V No ClinGen
ExAC
gnomAD
CA8427259
COSM976248
rs546007050
913 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1419371061
CA398602087
914 S>L No ClinGen
TOPMed
gnomAD
CA398602099
rs1426603015
915 C>Y No gnomAD
ClinGen
CA8427262
rs781433997
916 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA398602156
rs1298034286
918 T>M No ClinGen
gnomAD
rs146676364
CA8427266
919 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM976254
CA8427267
rs749223309
919 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA398602181
rs1258609297
920 H>R No ClinGen
TOPMed
rs770749833
CA8427268
920 H>Y No ClinGen
ExAC
gnomAD
CA8427296
rs546417717
924 F>L No 1000Genomes
ExAC
gnomAD
ClinGen
CA398603499
rs1425596468
929 P>A No TOPMed
gnomAD
ClinGen
TCGA novel 929 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 930 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 931 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8427297
rs566558385
931 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA8427300
rs767898770
932 F>L No ClinGen
ExAC
gnomAD
rs752002417
CA8427298
932 F>L No ExAC
gnomAD
ClinGen
rs755343498
CA8427299
932 F>S No ExAC
gnomAD
ClinGen
CA8427301
rs765248170
934 R>C No ExAC
TOPMed
gnomAD
ClinGen
CA8427302
rs756351159
934 R>H No ClinGen
ExAC
gnomAD
rs983088433
CA288437232
936 S>T No Ensembl
ClinGen
CA8427304
rs753901245
937 L>V No ExAC
gnomAD
ClinGen
rs907559516
CA288437248
938 S>N No TOPMed
gnomAD
ClinGen
rs367698200
CA8427306
940 R>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs757193789
CA8427305
940 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1260770571
CA398603622
942 I>V No ClinGen
gnomAD
rs140224169
CA8427308
943 T>I No ESP
ExAC
gnomAD
ClinGen
CA8427310
rs746707281
945 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs776008239
CA8427312
946 L>F No ExAC
gnomAD
ClinGen
CA8427313
rs756544370
947 C>* No ClinGen
ExAC
CA8427316
rs771585541
948 S>F No ClinGen
ExAC
gnomAD
rs1347029868
CA398603715
950 D>N No gnomAD
ClinGen
TCGA novel 950 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1597881140
CA398603732
951 I>V No ClinGen
Ensembl
rs760086303
CA8427318
952 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs767833603
CA8427319
953 W>* No ExAC
gnomAD
ClinGen
rs1370777305
CA398603782
954 P>R No gnomAD
ClinGen
rs753088713
CA8427320
954 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs753088713
CA398603775
954 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs760825714
COSM96804
CA8427321
955 R>C haematopoietic_and_lymphoid_tissue [Cosmic] No ExAC
TOPMed
gnomAD
ClinGen
cosmic curated
rs145213300
CA8427322
955 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145213300
CA288437308
955 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8427325
rs200133079
956 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1263015990
CA398603821
957 A>V No gnomAD
ClinGen
rs1462060257
CA398603860
959 Q>H No gnomAD
ClinGen
rs758352284
CA8427328
960 A>D No ExAC
TOPMed
gnomAD
ClinGen
rs750401231
CA8427326
960 A>S No ClinGen
ExAC
gnomAD
rs758352284
CA8427327
960 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs146640740
CA8427329
961 S>T No ClinGen
ESP
ExAC
TOPMed
rs1463146391
CA398604037
964 I>V No ClinGen
TOPMed
CA8427347
rs537626619
965 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA288437494
rs537626619
965 R>G No ClinGen
ExAC
gnomAD
CA398604055
rs758272132
965 R>P No ExAC
TOPMed
gnomAD
ClinGen
rs758272132
CA8427348
965 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1007327686
CA398604062
966 E>* No TOPMed
gnomAD
ClinGen
CA288437516
rs1007327686
966 E>K No ClinGen
TOPMed
gnomAD
CA8427350
rs751331580
968 P>R No ExAC
TOPMed
gnomAD
ClinGen
rs766299600
CA8427349
968 P>S No ExAC
gnomAD
ClinGen
rs1402718142
CA398604111
969 K>R No ClinGen
gnomAD
CA288437520
rs113789104
970 L>P No ClinGen
Ensembl
CA8427352
rs781100746
971 S>R No ClinGen
ExAC
gnomAD
rs747874447
CA8427353
972 Q>P No ClinGen
ExAC
gnomAD
CA8427354
rs755811344
974 N>Y No ClinGen
ExAC
gnomAD
CA8427356
rs780960319
975 G>R No ExAC
TOPMed
gnomAD
ClinGen
rs772491096
CA8427357
977 P>A No ExAC
gnomAD
ClinGen
CA8427358
rs150245335
977 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs368197421
CA8427359
978 S>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs762080475
CA8427362
982 A>V No ExAC
TOPMed
gnomAD
ClinGen
rs773311507
CA8427364
983 P>S No ClinGen
ExAC
gnomAD
rs1287036922
CA398604320
984 Q>E No ClinGen
TOPMed
CA8427365
rs763039590
985 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs149387516
CA8427366
985 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1406553043
CA398604395
988 G>A No gnomAD
ClinGen
TCGA novel 988 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398604421
rs1448658070
990 P>R No ClinGen
gnomAD
TCGA novel 991 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1391788447
CA398604459
992 P>L No TOPMed
ClinGen
CA398604466
rs1326400002
993 A>S No gnomAD
ClinGen
CA398604472
rs1164008398
993 A>V No TOPMed
ClinGen
rs1597881916
CA398604496
995 S>R No Ensembl
ClinGen
CA8427371
rs755829668
996 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs777531029
CA8427372
997 G>R No ExAC
gnomAD
ClinGen
CA8427374
rs756844509
998 P>L No ExAC
gnomAD
ClinGen
CA398604563
rs1203519133
999 D>H No TOPMed
gnomAD
ClinGen
rs1203519133
CA398604559
999 D>N No TOPMed
gnomAD
ClinGen
CA288437951
rs978312386
1000 T>I No TOPMed
ClinGen
CA398604632
rs1597882367
1000 T>P No Ensembl
ClinGen
rs143856264
CA8427389
1001 P>A No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA8427390
rs548640506
1001 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs778545274
CA8427392
1004 P>S No ClinGen
ExAC
gnomAD
CA8427394
rs755481281
1005 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs781626874
CA8427395
1007 A>T No ExAC
gnomAD
ClinGen
rs748632290
CA8427396
1008 L>F No ExAC
gnomAD
ClinGen
rs377496629
CA8427397
1010 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1230363788
CA398604779
1011 M>T No gnomAD
ClinGen
CA398604795
rs1213554926
1012 S>T No TOPMed
ClinGen
CA8427400
rs2290510
1013 I>M No ExAC
TOPMed
gnomAD
ClinGen
rs777994495
CA8427398
1013 I>V No ExAC
gnomAD
ClinGen
CA398604825
rs1256379537
1014 D>G No ClinGen
gnomAD
CA8427401
rs774490299
1014 D>N No ExAC
TOPMed
gnomAD
ClinGen
CA398604821
rs774490299
1014 D>Y No ExAC
TOPMed
gnomAD
ClinGen
rs1313608479
CA398604844
1015 S>L No TOPMed
ClinGen
rs1245605334
CA398604855
1016 A>V No ClinGen
gnomAD
TCGA novel 1017 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs147236233
CA288438016
1021 T>A No ESP
TOPMed
gnomAD
ClinGen
CA398604930
rs1193747098
1021 T>I No ClinGen
TOPMed
gnomAD
CA8427402
rs139770091
1022 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA288438025
rs975803890
1024 D>Y No ClinGen
Ensembl
CA8427403
rs141785202
1025 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398604982
rs1475191155
1025 T>M No TOPMed
ClinGen
CA288438026
rs181243082
1026 T>I No ClinGen
1000Genomes
TCGA novel 1028 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8427408
rs764049583
1028 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA8427407
rs764049583
1028 D>N No ExAC
TOPMed
gnomAD
ClinGen
rs145328108
CA8427412
1029 V>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA8427410
rs374758088
1029 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA8427411
rs374758088
1029 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1030 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1411894053
CA398605041
1034 V>M No gnomAD
ClinGen
TCGA novel
CA398605051
rs1344900825
1035 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
TCGA novel 1037 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs12944747
CA288438254
1040 S>F No ClinGen
Ensembl
rs12944748
CA398605105
1041 S>C No gnomAD
ClinGen
rs12944748
CA288438257
1041 S>F No ClinGen
gnomAD
rs776480787
CA8427446
1042 E>A No ExAC
gnomAD
ClinGen
rs1269264604
CA398605128
1043 E>G No TOPMed
gnomAD
ClinGen
CA288438289
rs868564294
1046 K>N No ClinGen
gnomAD
CA398605178
rs1597883125
1047 N>D No Ensembl
ClinGen
CA288438293
rs979703198
1047 N>I No Ensembl
ClinGen
CA398605208
rs1483732508
1049 R>S No ClinGen
TOPMed
gnomAD
rs1183754896
CA398605214
1050 N>D No gnomAD
ClinGen
rs139560669
CA288438306
1050 N>K No ClinGen
ESP
TOPMed
gnomAD
rs1384645713
CA398605240
1052 A>S No TOPMed
ClinGen
rs1159977138
CA398605245
1052 A>V No ClinGen
gnomAD
rs149699735
CA8427450
1055 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398605288
rs1358302873
1056 A>T No gnomAD
ClinGen
rs866303561
CA288438308
1057 H>N No TOPMed
ClinGen
rs866303561
CA398605294
1057 H>Y No TOPMed
ClinGen
CA398605309
rs146701026
1058 A>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA8427451
rs146701026
COSM976258
1058 A>T endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8427452
rs564274000
1058 A>V No 1000Genomes
ExAC
gnomAD
ClinGen
CA288438340
rs573168513
1059 C>R No gnomAD
ClinGen
CA288438343
rs918103135
1060 A>D No ClinGen
gnomAD
CA398605342
rs918103135
1060 A>V No gnomAD
ClinGen
rs1222204199
CA398605348
1061 I>F No ClinGen
gnomAD
rs1262920068
CA398605358
1062 L>M No gnomAD
ClinGen
rs1212547463
CA398605369
1063 I>L No ClinGen
gnomAD

No associated diseases with Q15334

6 regional properties for Q15334

Type Name Position InterPro Accession
repeat WD40 repeat 18 - 62 IPR001680-1
repeat WD40 repeat 64 - 103 IPR001680-2
repeat WD40 repeat 188 - 224 IPR001680-3
repeat WD40 repeat 227 - 265 IPR001680-4
repeat WD40 repeat 425 - 461 IPR001680-5
domain Lethal giant larvae homologue 2 280 - 380 IPR013577

Functions

Description
EC Number
Subcellular Localization
  • Early endosome membrane
  • Golgi apparatus, trans-Golgi network membrane
  • Golgi apparatus membrane
  • Cell projection, axon
  • Cytoplasm, cytoskeleton
  • Localized to the lateral membrane during the polarization and formation cell-cell contacts
  • Enriched in developing axons (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

10 GO annotations of cellular component

Name Definition
adherens junction A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
cortical actin cytoskeleton The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
early endosome membrane The lipid bilayer surrounding an early endosome.
Golgi cis cisterna The Golgi cisterna closest to the endoplasmic reticulum; the first processing compartment through which proteins pass after export from the ER.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
trans-Golgi network membrane The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network.

4 GO annotations of molecular function

Name Definition
GTPase activator activity Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
myosin II binding Binding to a class II myosin, any member of the class of 'conventional' double-headed myosins that includes muscle myosin.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
structural molecule activity The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell.

10 GO annotations of biological process

Name Definition
axonogenesis De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells.
cortical actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane.
establishment of spindle orientation Any process that set the alignment of spindle relative to other cellular structures.
establishment or maintenance of epithelial cell apical/basal polarity Any cellular process that results in the specification, formation or maintenance of the apicobasal polarity of an epithelial cell.
exocytosis A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
Golgi to plasma membrane transport The directed movement of substances from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane, where they fuse and release their contents by exocytosis.
protein-containing complex assembly The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
regulation of establishment or maintenance of cell polarity Any process that modulates the frequency, rate or extent of the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns.
regulation of Notch signaling pathway Any process that modulates the frequency, rate or extent of the Notch signaling pathway.
regulation of protein secretion Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell.

13 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P38163 SRO77 Lethal(2) giant larvae protein homolog SRO77 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q12038 SRO7 Lethal(2) giant larvae protein homolog SRO7 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q8MKF0 LLGL1 Lethal(2) giant larvae protein homolog 1 Bos taurus (Bovine) PR
Q6P1M3 LLGL2 LLGL scribble cell polarity complex component 2 Homo sapiens (Human) PR
Q9Y2K9 STXBP5L Syntaxin-binding protein 5-like Homo sapiens (Human) PR
Q5T5C0 STXBP5 Syntaxin-binding protein 5 Homo sapiens (Human) PR
Q8K400 Stxbp5 Syntaxin-binding protein 5 Mus musculus (Mouse) PR
Q5DQR4 Stxbp5l Syntaxin-binding protein 5-like Mus musculus (Mouse) PR
Q80Y17 Llgl1 Lethal(2) giant larvae protein homolog 1 Mus musculus (Mouse) PR
Q9WU70 Stxbp5 Syntaxin-binding protein 5 Rattus norvegicus (Rat) PR
Q8K4K5 Llgl1 Lethal(2) giant larvae protein homolog 1 Rattus norvegicus (Rat) PR
Q5SQE2 stxbp5l Syntaxin-binding protein 5-like Danio rerio (Zebrafish) (Brachydanio rerio) PR
Q7SZE3 llgl2 LLGL scribble cell polarity complex component 2 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MMKFRFRRQG ADPQREKLKQ ELFAFNKTVE HGFPNQPSAL AFDPELRIMA IGTRSGAVKI
70 80 90 100 110 120
YGAPGVEFTG LHRDAATVTQ MHFLTGQGRL LSLLDDSSLH LWEIVHHNGC AHLEEALSFQ
130 140 150 160 170 180
LPSRPGFDGA SAPLSLTRVT VVLLVAASDI AALGTEGSSV FFLDVTTLTL LEGQTLAPGE
190 200 210 220 230 240
VLRSVPDDYR CGKALGPVES LQGHLRDPTK ILIGYSRGLL VIWNQASQCV DHIFLGNQQL
250 260 270 280 290 300
ESLCWGRDSS TVVSSHSDGS YAVWSVDAGS FPTLQPTVAT TPYGPFPCKA INKILWRNCE
310 320 330 340 350 360
SGGHFIIFSG GMPRASYGDR HCVSVLRAET LVTLDFTSRI IDFFTVHSTR PEDEFDDPQA
370 380 390 400 410 420
LAVLLEEELV VLDLQTPGWP AVPAPYLAPL HSSAITCSAH VASVPAKLWA RIVSAGEQQS
430 440 450 460 470 480
PQPVSSALSW PITGGRNLAQ EPSQRGLLLT GHEDGTVRFW DASGVALRPL YKLSTAGLFQ
490 500 510 520 530 540
TDCEHADSLA QAAEDDWPPF RKVGCFDPYS DDPRLGVQKV ALCKYTAQMV VAGTAGQVLV
550 560 570 580 590 600
LELSDVPVEQ AVSVAIIDLL QDREGFTWKG HERLSPRTGP LPWPAGFQPR VLVQCLPPAA
610 620 630 640 650 660
VTAVTLHTEW SLVAFGTSHG FGLFDYQRKS PVLARCTLHP NDSLAMEGPL SRVKSLKKSL
670 680 690 700 710 720
RQSFRRIRKS RVSGKKRAAN ASSKLQEANA QLAEQACPHD VEMTPVQRRI EPRSADDSLS
730 740 750 760 770 780
GVVRCLYFAD TFLRDGAHHG PTMWAGTNSG SVFAYALEVP AAAVGGEKRP EQAVEAVLGK
790 800 810 820 830 840
EVQLMHRAPV VAIAVLDGRG RPLPEPYEAS RDLAQAPDMQ GGHAVLIASE EQFKVFTLPK
850 860 870 880 890 900
VSAKTKFKLT AHEGCRVRKV ALATFASVAC EDYAETCLAC LTNLGDVHVF SVPGLRPQVH
910 920 930 940 950 960
YSCIRKEDIS GIASCVFTRH GQGFYLISPS EFERFSLSAR NITEPLCSLD INWPRDATQA
970 980 990 1000 1010 1020
SYRIRESPKL SQANGTPSIL LAPQSLDGSP DPAHSMGPDT PEPPEAALSP MSIDSATSAD
1030 1040 1050 1060
TTLDTTGDVT VEDVKDFLGS SEESEKNLRN LAEDEAHACA ILIK