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

4 structures for Q9Y6D6

Entry ID Method Resolution Chain Position Source
3LTL X-ray 220 A A/B 691-889 PDB
5EE5 X-ray 228 A A 1-229 PDB
5J5C X-ray 340 A B 1-224 PDB
AF-Q9Y6D6-F1 Predicted AlphaFoldDB

896 variants for Q9Y6D6

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV001290727
RCV002276682
rs1805830692
336 M>missing Global developmental delay DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES [ClinVar] Yes ClinVar
dbSNP
rs1804841321
RCV002276683
RCV001290728
648 Q>* Global developmental delay Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [ClinVar] Yes ClinVar
dbSNP
VAR_087629 648 Q>del DEDISB; decreased protein abundance [UniProt] Yes UniProt
rs1840585492
RCV001290724
720 L>missing Global developmental delay [ClinVar] Yes ClinVar
dbSNP
RCV002276680
rs1840520188
VAR_087630
RCV001290721
798 D>N Global developmental delay Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures DEDISB; decreased protein abundance [ClinVar, UniProt] Yes ClinVar
UniProt
dbSNP
CA371214120
rs1563869264
RCV001290726
799 R>* Global developmental delay Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV002276679
rs1840507738
RCV001290121
842 Q>* DEVELOPMENTAL DELAY, IMPAIRED SPEECH, BEHAVIORAL ABNORMALITIES, AND SEIZURES [ClinVar] Yes ClinVar
dbSNP
VAR_087631 842 Q>del DEDISB [UniProt] Yes UniProt
rs1839888192
RCV001290725
976 C>missing Global developmental delay [ClinVar] Yes ClinVar
dbSNP
RCV001290729
CA371199990
rs1308211020
1233 Q>* Global developmental delay [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
rs146133956
COSM1101211
CA371196313
RCV001290730
1345 R>* Global developmental delay Variant assessed as Somatic; impact. endometrium stomach [ClinVar, NCI-TCGA, Cosmic] Yes ClinGen
cosmic curated
ClinVar
ESP
NCI-TCGA
TOPMed
dbSNP
gnomAD
VAR_087632 1455 C>del DEDISB [UniProt] Yes UniProt
rs1838287933
RCV002276681
RCV001780236
RCV001290722
1774 R>* Global developmental delay Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures [ClinVar] Yes ClinVar
dbSNP
VAR_087633 1774 R>del DEDISB [UniProt] Yes UniProt
rs369779833
CA4772610
2 Y>C No ClinGen
ESP
ExAC
gnomAD
CA371253712
rs1326853723
2 Y>D No ClinGen
gnomAD
rs762648819
CA4772607
4 G>E No ClinGen
ExAC
gnomAD
rs765893935
CA4772608
4 G>R No ClinGen
ExAC
gnomAD
CA371253623
rs1472016796
5 K>N No ClinGen
gnomAD
CA4772606
rs773513092
5 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA371253583
rs1563926936
8 K>R No ClinGen
Ensembl
CA371253503
rs1453859318
11 F>L No ClinGen
gnomAD
rs575822599
CA178327432
11 F>S No ClinGen
Ensembl
CA4772604
rs765553102
14 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA371253452
rs1347297540
15 A>G No ClinGen
TOPMed
TCGA novel 15 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371253449
rs1347297540
15 A>V No ClinGen
TOPMed
CA4772601
rs768754442
20 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA178327423
rs878891010
20 L>W No ClinGen
Ensembl
CA4772600
rs746993809
21 A>D No ClinGen
ExAC
gnomAD
CA371253339
COSM3834948
rs1350102787
21 A>T Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
TCGA novel 22 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371253308
rs1302340992
23 K>R No ClinGen
gnomAD
TCGA novel 24 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371253234
rs1477016231
28 A>G No ClinGen
TOPMed
gnomAD
rs1477016231
CA371253233
28 A>V No ClinGen
TOPMed
gnomAD
CA4772591
rs751084276
31 S>C No ClinGen
ExAC
gnomAD
rs754553351
CA4772592
31 S>T No ClinGen
ExAC
gnomAD
CA371253193
rs751084276
31 S>Y No ClinGen
ExAC
gnomAD
CA178327393
rs909771404
35 K>T No ClinGen
Ensembl
CA371253128
rs1479253199
36 A>V No ClinGen
gnomAD
CA371253097
rs1378735697
38 E>G No ClinGen
gnomAD
CA178301650
rs1038077353
42 E>G No ClinGen
TOPMed
rs144563065
CA4772563
44 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753201303
CA4772562
44 I>T No ClinGen
ExAC
gnomAD
rs767528474
CA4772561
46 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs774730853
CA4772559
47 E>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 49 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371259393
rs1409793632
50 K>E No ClinGen
gnomAD
CA371259387
rs1417634804
50 K>N No ClinGen
TOPMed
gnomAD
CA178300541
rs144506580
53 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs144506580
CA4772535
53 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA178300558
rs938635856
53 P>S No ClinGen
Ensembl
rs972627593
CA178300534
54 P>L No ClinGen
TOPMed
rs1214124211
CA371259352
54 P>S No ClinGen
gnomAD
CA4772533
rs760449947
55 H>D No ClinGen
ExAC
gnomAD
rs745773603
CA4772529
60 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA4772528
rs773900413
60 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA371259304
rs1442160635
62 S>P No ClinGen
gnomAD
rs1324212767
CA371259269
67 P>Q No ClinGen
gnomAD
rs1563901020
CA371259250
70 S>A No ClinGen
Ensembl
TCGA novel 71 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371259237
rs1158477924
72 T>A No ClinGen
gnomAD
CA4772524
rs756451699
72 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA4772523
rs143012582
76 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA371259192
rs1193998653
78 D>V No ClinGen
gnomAD
rs1453645148
CA371259166
81 F>L No ClinGen
gnomAD
rs1213060906
CA371259109
89 Q>H No ClinGen
TOPMed
gnomAD
CA371259112
rs1461198864
89 Q>P No ClinGen
gnomAD
CA178300451
rs538740809
90 S>Y No ClinGen
1000Genomes
CA178300449
rs910132709
91 K>R No ClinGen
TOPMed
gnomAD
rs766586260
CA4772518
92 C>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 92 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1327421874
CA371259080
94 R>C No ClinGen
TOPMed
COSM1101236
CA371259079
rs369515490
94 R>H Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
gnomAD
CA178300443
rs369515490
94 R>L No ClinGen
ESP
TOPMed
gnomAD
rs1301714952
CA371259067
96 V>A No ClinGen
gnomAD
CA4772517
rs758509264
96 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1437459663
CA371259060
97 S>N No ClinGen
gnomAD
CA4772494
rs753957502
107 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs766359315
CA4772490
113 T>I No ClinGen
ExAC
gnomAD
CA4772489
rs762869514
114 G>D No ClinGen
ExAC
gnomAD
CA4772488
rs368559554
115 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1337264407
CA371258913
117 P>L No ClinGen
gnomAD
rs1376165205
CA371258916
117 P>S No ClinGen
TOPMed
rs1293933334
CA371258908
118 D>G No ClinGen
gnomAD
rs1232802022
CA371258903
119 S>G No ClinGen
TOPMed
gnomAD
rs1160057263
CA371258886
120 T>R No ClinGen
TOPMed
CA371258881
rs1353450636
121 T>A No ClinGen
gnomAD
CA371258883
rs1353450636
121 T>P No ClinGen
gnomAD
CA371258857
rs769168664
123 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs769168664
CA4772487
123 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA371258808
rs1391745660
127 I>T No ClinGen
gnomAD
rs1395428517
CA371258797
128 D>G No ClinGen
gnomAD
rs1035393239
CA178298788
128 D>Y No ClinGen
TOPMed
rs1391308115
CA371258777
130 I>L No ClinGen
TOPMed
CA371258734
rs1386041962
133 T>I No ClinGen
TOPMed
CA4772484
rs769150403
COSM3779314
134 I>M Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA4772485
rs776110527
134 I>T No ClinGen
ExAC
gnomAD
rs1459081461
CA371258727
134 I>V No ClinGen
gnomAD
rs1182040428
CA371258700
136 G>D No ClinGen
gnomAD
rs1184530742
CA371258620
143 T>A No ClinGen
TOPMed
gnomAD
CA4772483
rs747321357
146 G>R No ClinGen
ExAC
gnomAD
rs1228609152
CA371258564
148 Q>K No ClinGen
TOPMed
TCGA novel 150 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4772482
rs181099627
152 I>L No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 156 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768482778
CA4772460
158 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1348258522
CA371258277
158 A>V No ClinGen
gnomAD
rs776037456
CA4772458
159 V>A No ClinGen
ExAC
rs760401084
CA4772459
159 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA371258252
rs748428891
163 H>N No ClinGen
ExAC
TOPMed
gnomAD
CA371258246
rs1318381561
163 H>Q No ClinGen
gnomAD
rs748428891
CA4772456
163 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA4772455
rs562671176
164 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA4772454
rs562671176
164 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 169 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749383940
CA4772453
170 T>I No ClinGen
ExAC
gnomAD
rs1157441742
CA371258198
171 V>I No ClinGen
TOPMed
gnomAD
CA4772452
rs147785456
173 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4772450
rs748343992
174 A>V No ClinGen
ExAC
gnomAD
TCGA novel 176 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs140713901
CA178296552
180 N>S No ClinGen
ESP
TOPMed
rs1446560773
CA371258102
185 S>N No ClinGen
gnomAD
rs758092043
CA4772448
186 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA371258070
rs1047822027
189 I>M No ClinGen
TOPMed
CA371258057
rs1348542717
191 Q>R No ClinGen
TOPMed
gnomAD
CA4772446
rs765029714
193 T>A No ClinGen
ExAC
gnomAD
rs1231875440
CA371258032
195 K>R No ClinGen
TOPMed
gnomAD
CA371258033
rs1231875440
195 K>T No ClinGen
TOPMed
gnomAD
rs757207098
CA4772445
197 T>A No ClinGen
ExAC
gnomAD
rs1270478481
CA371258016
198 L>V No ClinGen
gnomAD
CA178296527
rs375579913
199 T>N No ClinGen
ESP
TCGA novel 203 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371357899
CA178296510
205 I>T No ClinGen
ESP
CA4772444
rs753467284
205 I>V No ClinGen
ExAC
rs1314181915
CA371257952
207 A>V No ClinGen
gnomAD
rs763667176
CA4772443
208 R>C No ClinGen
ExAC
gnomAD
rs1587249291
CA371257949
208 R>H No ClinGen
Ensembl
rs775243712
CA4772441
209 M>I No ClinGen
ExAC
gnomAD
rs760454209
CA4772442
209 M>V No ClinGen
ExAC
gnomAD
TCGA novel 213 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1031287802
CA178296482
213 A>V No ClinGen
Ensembl
rs745710547
CA4772428
215 Q>R No ClinGen
ExAC
gnomAD
CA371256884
rs1319679156
218 K>T No ClinGen
TOPMed
CA4772426
rs757183150
220 M>V No ClinGen
ExAC
gnomAD
CA4772425
rs753804375
224 R>G No ClinGen
ExAC
gnomAD
rs1330010304
CA371256792
224 R>M No ClinGen
gnomAD
CA371256785
rs1409556340
224 R>S No ClinGen
gnomAD
rs1563894275
CA371256757
226 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs763728256
CA4772424
226 R>W No ClinGen
ExAC
gnomAD
CA4772423
rs752409370
227 Q>H No ClinGen
ExAC
gnomAD
CA371256737
rs1475615865
228 H>D No ClinGen
gnomAD
rs200834597
CA4772421
228 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1179984638
CA371256714
229 H>L No ClinGen
gnomAD
rs1179984638
CA371256715
229 H>R No ClinGen
gnomAD
rs1344388478
CA371256703
230 H>R No ClinGen
TOPMed
CA4772420
rs144569761
230 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA371256636
rs766739388
235 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs766739388
CA4772418
235 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs763468863
CA4772417
236 V>I No ClinGen
ExAC
gnomAD
CA178292193
rs905474246
237 S>N No ClinGen
TOPMed
gnomAD
CA4772415
rs370787018
238 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776681380
CA4772413
240 E>K No ClinGen
ExAC
gnomAD
rs768829279
CA4772412
243 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs747224293
CA4772411
244 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1477395623
CA371256478
247 R>G No ClinGen
TOPMed
rs770710364
CA4772409
250 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs375469959
CA4772407
251 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA371256393
rs1406939161
CA371256395
252 Q>H No ClinGen
TOPMed
rs756105532
CA4772406
253 T>S No ClinGen
ExAC
gnomAD
CA4772405
rs370772971
254 V>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 255 D>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371256349
rs1292146078
256 H>D No ClinGen
gnomAD
rs780719537
CA4772404
256 H>R No ClinGen
ExAC
gnomAD
rs1587238852
CA371256335
257 I>V No ClinGen
Ensembl
rs1587238832
CA371256299
259 Q>H No ClinGen
Ensembl
CA4772401
rs766681415
262 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 263 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs955021939
CA178292077
265 L>P No ClinGen
Ensembl
RCV000955187
CA4772399
rs61753695
266 D>Y No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA371256188
rs1319219148
267 L>R No ClinGen
gnomAD
CA371256175
rs1285658290
268 H>R No ClinGen
gnomAD
CA371256179
rs1294209872
268 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA4772397
rs762305898
270 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs1289752973
CA371256116
272 V>G No ClinGen
TOPMed
rs4321984
VAR_028749
CA178292046
273 D>Y No ClinGen
UniProt
Ensembl
dbSNP
CA371256061
rs1306088929
276 L>F No ClinGen
TOPMed
gnomAD
CA371256063
rs1306088929
276 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1370559410
CA371256005
280 T>A No ClinGen
gnomAD
CA4772395
rs768761106
280 T>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 281 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4772393
rs775713594
282 P>H No ClinGen
ExAC
gnomAD
rs1364117236
CA371255920
286 S>C No ClinGen
gnomAD
CA4772390
rs527981069
287 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4772391
rs749151632
287 D>G No ClinGen
ExAC
gnomAD
CA178292007
rs368008426
287 D>H No ClinGen
Ensembl
CA4772389
rs149899042
288 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA178291998
rs1002606879
289 S>A No ClinGen
Ensembl
CA371255824
rs1453404737
293 N>S No ClinGen
gnomAD
rs4641048
CA178291988
295 Q>H No ClinGen
Ensembl
CA4772386
rs61758692
296 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA371255786
rs1301394858
296 T>S No ClinGen
TOPMed
gnomAD
rs61758692
CA4772387
296 T>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 298 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs551759273
CA4772384
300 Q>K No ClinGen
1000Genomes
ExAC
gnomAD
CA4772383
rs531843869
301 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA4772382
rs750857646
303 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs765557150
CA4772381
304 A>V No ClinGen
ExAC
gnomAD
CA371255657
rs1460770955
306 T>P No ClinGen
gnomAD
rs745499442
CA4772361
309 K>E No ClinGen
ExAC
gnomAD
CA371254475
rs1254640307
309 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA178288630
rs888218708
310 N>K No ClinGen
TOPMed
gnomAD
CA371254428
rs1587228454
312 V>A No ClinGen
Ensembl
CA371254424
rs1277623235
313 L>I No ClinGen
gnomAD
CA4772358
rs76811394
COSM150498
314 Y>C stomach [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA4772359
rs76811394
314 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs996930481
CA178288626
314 Y>H No ClinGen
Ensembl
VAR_036155 316 G>E a colorectal cancer sample; somatic mutation [UniProt] No UniProt
CA4772357
rs764719716
COSM1101234
316 G>R Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1250575552
CA371254371
317 E>G No ClinGen
gnomAD
TCGA novel 317 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA178288590
rs756572458
319 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA4772356
rs756572458
319 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA4772355
rs752860157
321 C>F No ClinGen
ExAC
gnomAD
CA371254331
rs1299695735
322 E>D No ClinGen
TOPMed
gnomAD
rs1309195144
CA371254304
326 Q>R No ClinGen
TOPMed
gnomAD
CA371254288
rs1167874617
328 I>T No ClinGen
gnomAD
rs895868722
CA178288572
332 I>V No ClinGen
TOPMed
gnomAD
CA4772349
rs776280671
335 E>K No ClinGen
ExAC
gnomAD
CA371254229
rs1563890913
336 M>I No ClinGen
Ensembl
CA4772348
rs768708118
336 M>V No ClinGen
ExAC
gnomAD
CA4772347
rs746893285
337 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1447770575
CA371254228
337 V>M No ClinGen
Ensembl
CA4772346
rs775031644
338 N>H No ClinGen
ExAC
gnomAD
rs1346287784
CA371254216
339 I>L No ClinGen
gnomAD
rs1331740711
CA371254206
340 V>A No ClinGen
TOPMed
CA371254209
rs1415717120
340 V>I No ClinGen
TOPMed
CA178281943
rs553294668
344 M>T No ClinGen
gnomAD
rs565313375
CA4772321
344 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA371253938
rs1388396483
345 G>A No ClinGen
TOPMed
rs1371346419
CA371253930
346 E>K No ClinGen
TOPMed
gnomAD
rs770012022
CA4772319
347 G>E No ClinGen
ExAC
gnomAD
CA4772320
rs778218475
347 G>W No ClinGen
ExAC
gnomAD
rs748665917
CA4772318
348 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs755532297
CA4772316
353 S>N No ClinGen
ExAC
rs781739609
CA4772317
353 S>R No ClinGen
ExAC
gnomAD
CA371253818
rs1413282587
354 A>T No ClinGen
TOPMed
CA371253784
rs140569992
356 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140569992
CA4772315
356 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1196161647
CA371253764
357 N>K No ClinGen
gnomAD
CA178281883
rs1030938397
357 N>S No ClinGen
TOPMed
rs199816572
CA4772313
358 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs367687566
CA4772314
358 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750563533
CA4772312
361 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1449993806
CA371253678
362 E>D No ClinGen
gnomAD
CA371253617
rs1263959407
365 S>N No ClinGen
gnomAD
rs1487938175
CA371253565
367 S>R No ClinGen
gnomAD
rs1458972092
CA371253539
368 E>K No ClinGen
gnomAD
CA371253480
rs1283598200
370 I>T No ClinGen
gnomAD
rs113233246
CA178281860
371 Q>R No ClinGen
Ensembl
CA4772310
rs760320186
373 N>S No ClinGen
ExAC
gnomAD
CA371253347
rs1273945379
376 P>L No ClinGen
gnomAD
CA178281842
rs1031013620
380 I>V No ClinGen
gnomAD
rs1318444253
CA371253281
381 S>F No ClinGen
gnomAD
CA178281841
rs749253154
385 T>I No ClinGen
TOPMed
rs1261157740
CA371253225
386 P>S No ClinGen
gnomAD
rs1563883147
CA371253182
389 P>L No ClinGen
Ensembl
TCGA novel 391 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 392 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4772306
rs773900199
392 R>S No ClinGen
ExAC
gnomAD
CA4772305
rs770296871
394 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs75111017
CA4772304
398 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA178281819
rs75111017
398 N>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA371252996
rs1587196848
400 T>A No ClinGen
Ensembl
rs1274007000
CA371219609
410 S>L No ClinGen
TOPMed
CA4772287
rs765914390
411 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA178239905
rs765914390
411 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA371219606
rs1292389787
411 P>S No ClinGen
Ensembl
CA371219598
rs1439160507
413 A>T No ClinGen
gnomAD
rs1404424004
CA371219593
413 A>V No ClinGen
TOPMed
gnomAD
TCGA novel 414 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA178239902
rs1040035704
414 K>N No ClinGen
Ensembl
rs1273351016
CA371219589
414 K>T No ClinGen
gnomAD
CA178239898
rs78884955
415 F>V No ClinGen
Ensembl
rs537950704
CA4772286
416 S>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4772285
rs537950704
416 S>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs761529850
CA178239868
419 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA371219549
rs777189480
420 Q>L No ClinGen
ExAC
gnomAD
CA4772282
rs777189480
420 Q>P No ClinGen
ExAC
gnomAD
rs769097390
CA4772281
423 A>D No ClinGen
ExAC
gnomAD
rs769097390
CA371219527
423 A>G No ClinGen
ExAC
gnomAD
rs772208540
CA4772278
427 F>V No ClinGen
ExAC
gnomAD
rs1010934782
CA178239847
430 L>F No ClinGen
TOPMed
gnomAD
rs1167222689
CA371219450
435 M>T No ClinGen
gnomAD
CA4772276
rs779019298
435 M>V Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA371219440
rs1405862929
436 K>I No ClinGen
gnomAD
CA4772275
rs757522766
446 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 448 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4772254
rs756313238
451 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA371218971
rs1354802061
452 S>C No ClinGen
TOPMed
rs901104524
CA178237875
453 K>R No ClinGen
TOPMed
gnomAD
CA371218962
rs1219961611
454 I>F No ClinGen
TOPMed
gnomAD
CA371218960
rs1219961611
454 I>V No ClinGen
TOPMed
gnomAD
rs779870449
CA4772252
456 S>P No ClinGen
ExAC
gnomAD
TCGA novel 459 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371218879
rs1216397684
465 Q>H No ClinGen
gnomAD
CA4772250
rs750330408
474 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs778601035
CA4772249
475 E>G No ClinGen
ExAC
gnomAD
rs1350123170
CA371218762
475 E>K No ClinGen
gnomAD
rs756761381
CA4772248
477 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs753559272
CA371218712
478 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs753559272
CA4772247
478 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA4772245
rs760372196
481 I>V No ClinGen
ExAC
gnomAD
TCGA novel 485 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 485 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA178237835
rs1014512662
498 P>S No ClinGen
Ensembl
TCGA novel 502 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4772242
rs759991178
502 E>D No ClinGen
ExAC
gnomAD
rs1026472926
CA178237826
507 I>T No ClinGen
Ensembl
rs1187817028
CA371218311
507 I>V No ClinGen
gnomAD
rs771009386
CA4772240
509 L>F No ClinGen
ExAC
gnomAD
CA371218240
rs1403695984
514 N>D No ClinGen
TOPMed
CA371218216
rs1211033244
517 T>A No ClinGen
gnomAD
TCGA novel 520 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 521 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371217150
rs1423653976
526 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 530 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746053755
CA371217103
532 L>F No ClinGen
gnomAD
rs373169129
CA4772211
533 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 536 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778848500
CA4772210
538 S>C No ClinGen
ExAC
gnomAD
CA4772209
rs369952425
539 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1344007085
CA371217039
542 F>S No ClinGen
TOPMed
rs1196877628
CA371217002
547 M>V No ClinGen
gnomAD
CA371216988
rs1428032536
548 V>G No ClinGen
TOPMed
rs749187709
CA4772208
553 T>M No ClinGen
ExAC
gnomAD
CA371216951
rs1367795283
554 R>S No ClinGen
TOPMed
CA371216936
rs1319628995
556 C>W No ClinGen
gnomAD
rs149585401
CA4772206
556 C>Y No ClinGen
ESP
ExAC
gnomAD
rs1360305790
CA371216886
562 V>I No ClinGen
gnomAD
rs1360305790
CA371216884
562 V>L No ClinGen
gnomAD
rs886141882
CA178235621
576 A>V No ClinGen
TOPMed
gnomAD
rs749240943
CA4772191
578 I>V No ClinGen
ExAC
gnomAD
TCGA novel 580 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 585 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769604519
CA4772189
585 D>V No ClinGen
ExAC
gnomAD
CA371216577
rs1265332006
594 G>D No ClinGen
TOPMed
gnomAD
CA4772188
rs747756594
594 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs138242444
CA178235598
596 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA371216533
rs1487805509
597 E>* No ClinGen
gnomAD
CA178235582
rs923094119
597 E>A No ClinGen
TOPMed
gnomAD
CA371216530
rs923094119
597 E>G No ClinGen
TOPMed
gnomAD
CA371216497
rs1201770117
599 G>V No ClinGen
gnomAD
TCGA novel 601 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371216438
rs1348395111
603 V>I No ClinGen
TOPMed
rs1268754282
CA371216360
607 S>R No ClinGen
gnomAD
CA4772167
rs746672155
608 L>P No ClinGen
ExAC
gnomAD
TCGA novel 612 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371216317
rs1450728541
614 E>Q No ClinGen
gnomAD
CA371216313
rs1402489937
614 E>V No ClinGen
gnomAD
rs779586937
CA178235534
616 L>S No ClinGen
Ensembl
rs376779610
CA4772166
618 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA178235528
rs113878715
636 S>P No ClinGen
Ensembl
CA371216141
rs1472971986
638 T>A No ClinGen
gnomAD
CA4772163
rs779117076
639 T>A No ClinGen
ExAC
gnomAD
CA371216136
rs779117076
639 T>P No ClinGen
ExAC
gnomAD
CA4772161
rs754252311
640 L>F No ClinGen
ExAC
gnomAD
CA371216050
rs1280727022
642 Q>* No ClinGen
gnomAD
TCGA novel 642 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771132598
CA4772139
644 K>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 646 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371215912
rs1356109154
650 M>T No ClinGen
gnomAD
CA4772138
rs749813829
654 K>R No ClinGen
ExAC
gnomAD
rs1371229274
CA371215812
656 P>A No ClinGen
gnomAD
rs537079988
CA4772136
658 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs781395241
CA4772134
659 I>R No ClinGen
ExAC
gnomAD
rs752860752
CA4772135
659 I>V No ClinGen
ExAC
gnomAD
CA4772133
rs368332929
661 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4772130
rs761460203
671 T>A No ClinGen
ExAC
gnomAD
CA371215537
rs1436787771
673 S>A No ClinGen
gnomAD
rs1268876505
CA371215399
679 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1288952096
CA371215380
680 S>C No ClinGen
TOPMed
rs1197909586
CA371215377
680 S>N No ClinGen
TOPMed
gnomAD
CA178235200
rs145173986
682 Q>H No ClinGen
ESP
rs775031548
CA4772126
683 M>L No ClinGen
ExAC
gnomAD
TCGA novel 685 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771522851
CA4772125
690 E>D No ClinGen
ExAC
gnomAD
CA371215090
rs1366799626
697 Q>H No ClinGen
gnomAD
rs1281236178
CA371215062
700 E>D No ClinGen
gnomAD
rs1587167428
CA371215034
702 I>T No ClinGen
Ensembl
rs1277220113
CA371214988
706 I>L No ClinGen
TOPMed
CA178235177
rs915954092
707 D>H No ClinGen
TOPMed
rs1332855060
CA371214745
710 N>Y No ClinGen
gnomAD
CA371214732
TCGA novel
rs1222260912
711 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
CA4772106
rs773904011
712 K>R No ClinGen
ExAC
gnomAD
rs765983514
CA4772105
714 K>E No ClinGen
ExAC
gnomAD
CA4772104
rs762644535
715 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs868812236
CA178231693
716 G>* No ClinGen
Ensembl
TCGA novel 716 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4772103
rs773733329
716 G>V No ClinGen
ExAC
gnomAD
CA4772102
rs770242580
717 I>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 717 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371214701
rs770242580
717 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA4772100
rs777222331
728 T>A No ClinGen
ExAC
gnomAD
CA178231676
rs201705584
729 T>A No ClinGen
Ensembl
rs1248897282
CA371214611
730 P>A No ClinGen
TOPMed
rs769194487
CA4772099
730 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs898643631
CA178231653
733 I>T No ClinGen
gnomAD
CA371214582
rs1369869723
734 A>D No ClinGen
TOPMed
rs1187751821
CA371214585
734 A>T No ClinGen
TOPMed
rs1006949529
CA178231633
736 F>L No ClinGen
TOPMed
gnomAD
CA178231631
rs368734230
738 H>L No ClinGen
ESP
TOPMed
rs1017796535
CA178231632
738 H>Y No ClinGen
TOPMed
TCGA novel 739 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371214547
rs1323247630
739 Q>P No ClinGen
gnomAD
rs1395794307
CA371214525
742 R>K No ClinGen
TOPMed
rs1336362179
CA371214500
745 S>F No ClinGen
TOPMed
CA371214486
rs1196793314
746 T>A No ClinGen
TOPMed
CA4772065
rs370609948
746 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4772064
rs370609948
746 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781014133
CA4772062
747 Q>E No ClinGen
ExAC
gnomAD
rs1304117949
CA371214455
751 F>L No ClinGen
gnomAD
CA4772060
rs751473980
756 D>N No ClinGen
ExAC
gnomAD
TCGA novel 757 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4772059
rs779433086
759 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA4772058
rs757921940
760 K>E No ClinGen
ExAC
gnomAD
CA4772057
rs201306369
760 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs765051169
CA4772056
765 A>T No ClinGen
ExAC
gnomAD
rs754203571
CA4772054
766 Y>F No ClinGen
ExAC
gnomAD
CA371214338
rs1367498986
767 V>A No ClinGen
TOPMed
CA178230019
rs373557895
773 S>A No ClinGen
ESP
gnomAD
CA178229985
rs1053795900
776 D>Y No ClinGen
Ensembl
CA4772052
rs761120816
780 A>G No ClinGen
ExAC
gnomAD
rs1336520096
CA371214229
783 M>T No ClinGen
TOPMed
CA4772051
rs192394900
789 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1357962390
CA371214108
801 M>V No ClinGen
TOPMed
TCGA novel 804 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772261055
CA178229959
807 R>G No ClinGen
Ensembl
CA371214053
rs1404916182
808 Y>F No ClinGen
gnomAD
TCGA novel 810 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA178229923
rs748544685
814 G>R No ClinGen
Ensembl
rs1336220096
CA371213952
815 Q>R No ClinGen
gnomAD
CA371213937
rs1468139759
816 T>I No ClinGen
gnomAD
CA371213932
rs1168268343
817 L>F No ClinGen
gnomAD
rs376677831
CA4772029
820 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773423820
CA4772028
821 A>G No ClinGen
ExAC
rs773423820
CA178229592
821 A>V No ClinGen
ExAC
rs1241949806
CA371213558
831 I>V No ClinGen
gnomAD
CA371213545
rs1191036972
833 M>L No ClinGen
TOPMed
TCGA novel 834 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371213325
rs1244097264
845 N>S No ClinGen
gnomAD
rs1222890188
CA371213282
848 T>A No ClinGen
gnomAD
CA178226230
rs919102903
849 K>R No ClinGen
TOPMed
rs1377303552
CA371213251
850 E>G No ClinGen
gnomAD
CA4772000
rs745807755
851 Q>R No ClinGen
ExAC
gnomAD
rs1408896716
CA371213209
853 I>V No ClinGen
TOPMed
rs1357085508
CA371213144
857 R>K No ClinGen
TOPMed
TCGA novel 858 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4771999
rs201654906
860 N>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 864 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 868 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371212983
rs1311204931
870 L>I No ClinGen
TOPMed
gnomAD
CA371212953
COSM1101227
rs1176167354
872 A>D endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1408047976
CA371212959
872 A>S No ClinGen
gnomAD
TCGA novel 873 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4771995
rs755810202
874 Y>C No ClinGen
ExAC
gnomAD
CA371212800
RCV000850381
rs1490604083
884 M>V No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA178226184
rs951483189
887 T>A No ClinGen
gnomAD
TCGA novel 888 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4771994
rs747712444
890 L>V No ClinGen
ExAC
gnomAD
CA4771993
rs781541220
892 I>V No ClinGen
ExAC
gnomAD
rs1025716820
CA178226150
894 T>A No ClinGen
Ensembl
rs1017568863
CA178226142
897 S>N No ClinGen
TOPMed
TCGA novel 901 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1158609538
CA371211847
904 E>V No ClinGen
gnomAD
TCGA novel 921 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA178224472
COSM1245309
rs988981305
921 T>I oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
TCGA novel 928 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371211646
rs1446120711
932 V>F No ClinGen
TOPMed
TCGA novel 936 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371211542
rs1430594041
947 P>S No ClinGen
gnomAD
TCGA novel 948 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1308583743
CA371209523
952 A>S No ClinGen
gnomAD
CA4771949
rs746403844
954 T>M No ClinGen
ExAC
gnomAD
TCGA novel 957 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1358530735
CA371209442
958 A>G No ClinGen
TOPMed
gnomAD
CA4771947
rs757781689
960 F>C No ClinGen
ExAC
gnomAD
rs1164407678
CA371209381
963 G>C No ClinGen
TOPMed
gnomAD
rs1164407678
CA371209379
963 G>S No ClinGen
TOPMed
gnomAD
CA371209362
rs1587114144
965 Q>K No ClinGen
Ensembl
rs1383425247
CA371209346
COSM194709
966 D>N large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs756434225
CA4771944
967 C>S No ClinGen
ExAC
gnomAD
TCGA novel 970 T>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371209273
rs1171217848
970 T>I No ClinGen
TOPMed
CA371209256
rs766205926
971 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs750228227
CA4771940
CA4771941
972 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs765125851
CA4771939
974 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs765125851
CA371209224
974 S>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 975 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1398070538
CA371209156
980 I>V No ClinGen
TOPMed
rs201419316
CA4771938
982 C>R No ClinGen
1000Genomes
ExAC
gnomAD
rs763556817
CA4771936
984 I>M No ClinGen
ExAC
gnomAD
CA4771937
rs776142271
984 I>V No ClinGen
ExAC
gnomAD
CA4771934
rs142188640
989 I>V No ClinGen
ESP
ExAC
gnomAD
TCGA novel 991 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752871160
CA178211116
995 E>V No ClinGen
Ensembl
CA178211085
rs372985099
1000 V>I No ClinGen
ESP
TOPMed
gnomAD
CA4771913
rs774607442
1014 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1587111244
CA371207722
1015 I>V No ClinGen
Ensembl
CA371207514
rs1440617892
1024 D>G No ClinGen
TOPMed
CA4771911
rs749822900
1030 I>T No ClinGen
ExAC
gnomAD
TCGA novel 1031 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs113798396
CA178211042
1032 V>A No ClinGen
Ensembl
rs1370452083
CA371207394
1034 H>N No ClinGen
Ensembl
rs145286962
CA371207365
1036 D>H No ClinGen
ESP
ExAC
gnomAD
CA4771909
rs145286962
1036 D>N No ClinGen
ESP
ExAC
gnomAD
CA4771908
rs375079762
1039 Y>C No ClinGen
ESP
ExAC
gnomAD
CA4771888
rs768714441
1057 A>T No ClinGen
ExAC
gnomAD
CA4771886
rs780313573
1059 L>F No ClinGen
ExAC
gnomAD
rs749124100
CA4771884
1060 I>M No ClinGen
ExAC
gnomAD
rs1183176292
CA371206660
1066 P>A No ClinGen
gnomAD
CA371206649
rs1437573073
1067 R>* No ClinGen
gnomAD
rs1250094954
CA371206647
COSM1101219
1067 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA4771882
rs756032037
1068 Y>C No ClinGen
ExAC
gnomAD
CA371206588
rs752610322
1070 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA4771881
rs752610322
1070 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1376978967
CA371206562
1071 G>E No ClinGen
TOPMed
rs1008886908
CA178210610
1075 G>C No ClinGen
TOPMed
CA4771880
rs780576264
1077 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1432971720
CA371206270
1085 D>H No ClinGen
TOPMed
rs139223571
CA178210560
1086 Q>H No ClinGen
ESP
TOPMed
CA4771879
rs754572236
1087 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA371206189
rs1352936766
1087 A>V No ClinGen
gnomAD
rs751107137
CA4771878
1088 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs751107137
CA371206188
1088 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA371206150
rs996116653
1090 E>D No ClinGen
TOPMed
gnomAD
rs1279159476
CA371204107
1097 V>A No ClinGen
TOPMed
CA371203978
rs1342621540
1102 D>G No ClinGen
TOPMed
rs111784419
CA178205590
1104 K>R No ClinGen
Ensembl
rs1189670760
CA371203785
1111 E>G No ClinGen
gnomAD
CA4771857
rs754839021
1113 I>T No ClinGen
ExAC
gnomAD
rs1188069454
CA371203701
1117 S>G No ClinGen
gnomAD
rs375461478
CA4771838
1131 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779714564
CA4771837
1133 T>A No ClinGen
ExAC
gnomAD
rs1168145356
CA371201755
1138 N>D No ClinGen
gnomAD
CA178202109
rs924441420
1138 N>S No ClinGen
TOPMed
CA4771812
rs778208022
1145 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs756525677
CA4771810
1145 R>H No ClinGen
ExAC
gnomAD
rs778208022
CA4771811
1145 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA4771808
rs781692371
1152 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA178201910
rs955116586
1153 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 1154 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4771806
rs751681115
1157 S>C No ClinGen
ExAC
gnomAD
rs1288100333
CA371201462
1158 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA371201457
rs1219606941
1159 T>A No ClinGen
TOPMed
rs1347785695
CA371201455
1159 T>I No ClinGen
gnomAD
rs763241729
CA4771804
1160 H>N No ClinGen
ExAC
gnomAD
rs1386468724
CA371201442
1161 P>R No ClinGen
gnomAD
rs1387736660
CA371201385
1169 I>V No ClinGen
gnomAD
CA178201871
rs868146086
1177 M>I No ClinGen
Ensembl
rs1261256523
CA371201205
1182 L>I No ClinGen
TOPMed
gnomAD
TCGA novel 1184 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4771801
rs760613968
1188 W>S No ClinGen
ExAC
gnomAD
rs867694198
CA178201469
1202 P>S No ClinGen
TOPMed
CA371200541
rs1587085799
1206 V>I No ClinGen
Ensembl
CA371200513
rs1381218522
1208 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 1209 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA178201441
rs998787281
1211 V>I No ClinGen
TOPMed
gnomAD
rs1295551174
CA371200258
1219 M>I No ClinGen
gnomAD
rs1587085716
CA371200271
1219 M>V No ClinGen
Ensembl
rs1454509000
CA371200254
1220 K>Q No ClinGen
gnomAD
rs747757030
CA4771774
COSM3951807
1225 G>R lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 1236 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1240 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4771771
rs747385663
1242 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4771769
rs758907802
1243 I>T No ClinGen
ExAC
gnomAD
CA371199780
rs1206103055
1246 R>Q No ClinGen
TOPMed
gnomAD
CA371199782
rs1253162847
1246 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA4771744
rs751331329
1249 S>C No ClinGen
ExAC
gnomAD
rs1257063541
CA371199688
1251 T>I No ClinGen
TOPMed
CA4771743
rs553520474
1253 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA4771742
rs758271830
1258 R>Q No ClinGen
ExAC
gnomAD
rs1242748363
CA371199646
1258 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA178201162
rs988555627
1261 A>G No ClinGen
Ensembl
rs750301034
CA4771741
1263 M>T No ClinGen
ExAC
gnomAD
CA4771739
rs761379423
1268 A>V No ClinGen
ExAC
gnomAD
rs1321093475
CA371199543
1270 N>D No ClinGen
gnomAD
rs1460485840
CA371199456
1275 W>R No ClinGen
TOPMed
CA371199399
rs1404084178
1276 K>N No ClinGen
gnomAD
rs1160560536
CA371199346
1278 I>N No ClinGen
gnomAD
rs1391397839
CA371199347
1278 I>V No ClinGen
gnomAD
rs955757386
CA178201133
1280 S>A No ClinGen
TOPMed
CA371199156
rs1410248694
1284 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs760327271
CA4771736
1286 A>S No ClinGen
ExAC
gnomAD
rs760327271
CA371199091
1286 A>T No ClinGen
ExAC
gnomAD
TCGA novel 1286 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1478503998
CA371199058
1287 S>F No ClinGen
gnomAD
CA371199047
rs1246186593
1288 D>H No ClinGen
gnomAD
rs1196773781
CA371199016
1289 Q>P No ClinGen
gnomAD
CA371198987
rs1421230696
1290 D>G No ClinGen
TOPMed
CA4771735
rs775750702
1290 D>N No ClinGen
ExAC
gnomAD
rs367664307
CA178201081
1293 I>V No ClinGen
ESP
TOPMed
gnomAD
CA178201075
rs978430189
1297 A>E No ClinGen
Ensembl
CA371198773
rs1563849840
1298 F>L No ClinGen
Ensembl
rs760137402
CA4771733
1300 T>I No ClinGen
ExAC
gnomAD
TCGA novel 1302 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4771731
rs374793420
1302 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA371198667
rs1340496124
1303 H>N No ClinGen
gnomAD
CA4771727
rs748333460
1304 I>N No ClinGen
ExAC
gnomAD
CA4771728
rs769938373
1304 I>V No ClinGen
ExAC
gnomAD
rs549571655
CA4771707
1306 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA371197170
rs1489949999
1309 F>C No ClinGen
gnomAD
rs1390858728
CA371197163
1310 E>Q No ClinGen
gnomAD
rs1168106065
CA371197145
1311 K>* No ClinGen
gnomAD
TCGA novel 1312 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1312 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1312 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4771706
CA371197108
rs773167167
1313 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA4771705
rs769851880
1314 P>A No ClinGen
ExAC
gnomAD
TCGA novel 1315 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4771704
rs142115845
1315 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1482780011
CA371197069
1317 I>V No ClinGen
gnomAD
TCGA novel
CA4771702
rs768834501
1318 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
rs745712094
CA4771701
1319 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs200846406
CA4771699
1320 F>L No ClinGen
1000Genomes
ExAC
gnomAD
CA371196967
rs1184994996
1323 A>E No ClinGen
TOPMed
CA4771698
rs201732515
1323 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA371196799
rs1282861285
1330 F>I No ClinGen
gnomAD
rs767341513
CA4771694
1331 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA4771692
rs751980171
1332 C>W No ClinGen
ExAC
TOPMed
gnomAD
CA4771691
rs766814154
1333 N>H No ClinGen
ExAC
gnomAD
rs1216229672
CA371196731
1333 N>S No ClinGen
gnomAD
CA4771690
rs763579019
1335 A>D No ClinGen
ExAC
gnomAD
rs1563849152
CA371196656
1335 A>S No ClinGen
Ensembl
CA371196612
rs1411354649
1337 P>A No ClinGen
gnomAD
TCGA novel 1340 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371196497
rs1460460227
1340 S>N No ClinGen
TOPMed
rs1406844180
CA371196308
1345 R>Q No ClinGen
TOPMed
CA371196246
rs1472796528
1347 I>T No ClinGen
gnomAD
CA178199894
rs370394131
1348 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
COSM1101210
rs1250558374
CA371196206
1348 R>H Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs773820080
CA4771689
1350 C>R No ClinGen
ExAC
gnomAD
CA4771688
rs765632256
1353 Y>H No ClinGen
ExAC
gnomAD
CA4771685
rs199775958
1356 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1347846005
CA371195891
1356 D>H No ClinGen
TOPMed
gnomAD
TCGA novel 1362 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1322434117
CA371195349
1364 Y>C No ClinGen
gnomAD
CA4771668
rs764116931
1366 S>N No ClinGen
ExAC
TOPMed
gnomAD
COSM3432512
rs775735472
CA4771666
1367 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs773726515
CA4771665
1369 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA178198914
rs961858754
1371 V>I No ClinGen
gnomAD
CA371195118
rs1249402722
1372 A>V No ClinGen
gnomAD
rs1246422272
CA371194996
1377 V>L No ClinGen
gnomAD
TCGA novel 1378 W>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA178198878
rs78319917
1383 F>V No ClinGen
Ensembl
rs780874117
CA4771659
1384 P>A No ClinGen
ExAC
gnomAD
rs377506272
CA4771658
1385 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA371194801
rs1368615255
1386 L>V No ClinGen
Ensembl
rs1256757226
CA371194766
1387 F>C No ClinGen
gnomAD
CA4771657
rs746489087
1389 L>I No ClinGen
ExAC
gnomAD
CA4771656
rs779920834
1390 S>F No ClinGen
ExAC
CA371194666
rs1299997718
1392 I>V No ClinGen
TOPMed
gnomAD
rs750813318
CA4771654
1394 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA371194581
rs1316136340
1395 R>K No ClinGen
gnomAD
CA371194419
rs1301876508
1401 R>T No ClinGen
gnomAD
rs1013775742
CA178194167
1412 M>T No ClinGen
TOPMed
rs1254196396
CA371192385
1415 Y>C No ClinGen
gnomAD
CA371192306
rs1271022707
1417 H>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4771639
rs779653335
1418 T>A No ClinGen
ExAC
gnomAD
CA178194141
rs775589893
1421 K>T No ClinGen
Ensembl
TCGA novel 1425 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1427 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1214812941
CA371191855
COSM605944
1429 R>I lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA4771636
rs779355989
1432 F>S No ClinGen
ExAC
gnomAD
CA371191488
rs1288559470
1441 P>R No ClinGen
gnomAD
rs1217832756
CA371191447
1443 Q>R No ClinGen
TOPMed
rs1307431671
CA371190506
1453 T>I No ClinGen
TOPMed
CA371190305
rs1320471329
1460 Y>F No ClinGen
TOPMed
CA4771607
rs766569116
1461 A>S No ClinGen
ExAC
gnomAD
rs1478371319
CA371190281
1462 I>V No ClinGen
TOPMed
gnomAD
CA4771605
rs753691197
1464 D>V No ClinGen
ExAC
gnomAD
CA178192875
rs914514650
1471 E>K No ClinGen
Ensembl
TCGA novel 1474 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371189953
rs1179940786
1474 S>R No ClinGen
TOPMed
CA371189911
rs1445097490
1475 D>G No ClinGen
gnomAD
rs1230870028
CA371189865
1476 V>A No ClinGen
TOPMed
rs1280240081
CA371189892
1476 V>I No ClinGen
gnomAD
CA4771602
rs775335992
1481 I>V No ClinGen
ExAC
gnomAD
rs142342517
CA4771601
1483 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs759031840
CA4771600
1486 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 1488 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1321816950
CA371189523
1489 V>L No ClinGen
gnomAD
CA178192620
rs772338295
1499 S>P No ClinGen
Ensembl
CA4771571
rs772327347
1503 C>Y No ClinGen
ExAC
gnomAD
CA4771570
rs745909815
1507 V>I No ClinGen
ExAC
gnomAD
CA178192555
rs984450556
1509 I>V No ClinGen
Ensembl
CA178192554
rs951697257
1511 N>S No ClinGen
TOPMed
CA371188687
rs1478731972
1513 E>K No ClinGen
TOPMed
CA371188643
rs1204421626
1515 F>S No ClinGen
gnomAD
CA4771566
rs562598310
1517 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA4771567
rs752446276
1517 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1521 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200528352
CA4771564
1522 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA371188494
rs1414609273
1524 C>F No ClinGen
TOPMed
rs1038538095
CA178192517
1525 N>D No ClinGen
Ensembl
CA4771562
rs762520131
1525 N>K No ClinGen
ExAC
gnomAD
CA4771563
rs766277577
1525 N>S No ClinGen
ExAC
gnomAD
CA4771561
rs749924378
1529 D>H No ClinGen
ExAC
rs111800527
CA178192507
1531 F>L No ClinGen
Ensembl
rs761463781
CA371188370
1532 K>E No ClinGen
ExAC
gnomAD
rs761463781
CA4771559
1532 K>Q No ClinGen
ExAC
gnomAD
CA371188318
rs1351481157
1535 I>V No ClinGen
gnomAD
rs1158418686
CA371188297
1536 P>L No ClinGen
gnomAD
CA371188285
rs1440764608
1538 A>T No ClinGen
TOPMed
gnomAD
rs1045151994
COSM1457932
CA178192501
1538 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1368306069
CA371187888
1539 L>M No ClinGen
TOPMed
TCGA novel 1542 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749942462
CA371187771
1543 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs764686681
CA4771540
1543 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs761394814
CA178191725
1545 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA4771539
rs761394814
1545 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs753576102
CA4771538
1547 G>R No ClinGen
ExAC
gnomAD
rs1004723225
CA178191695
1548 E>G No ClinGen
Ensembl
CA178191691
rs886278417
1549 T>A No ClinGen
TOPMed
CA371187687
rs886278417
1549 T>P No ClinGen
TOPMed
CA4771537
rs763622698
1550 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA4771536
rs761167080
1551 P>H No ClinGen
ExAC
rs528881590
CA178191673
1551 P>S No ClinGen
1000Genomes
gnomAD
rs142098461
CA371187651
1552 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4771532
rs142098461
1552 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142098461
CA4771533
1552 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772716482
CA4771534
1552 P>S No ClinGen
ExAC
gnomAD
rs1158560535
CA371187641
1553 P>L No ClinGen
TOPMed
CA4771530
rs374667605
1553 P>S No ClinGen
1000Genomes
ESP
ExAC
gnomAD
rs774148781 1553 P>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA4771529
rs749301225
1556 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA4771528
rs773554490
1558 S>N No ClinGen
ExAC
gnomAD
CA371187528
rs1461552161
1561 P>S No ClinGen
TOPMed
rs748331865
CA4771505
1563 D>V No ClinGen
ExAC
CA178188523
rs143577156
1563 D>Y No ClinGen
ESP
gnomAD
CA4771503
rs771904962
1564 T>I No ClinGen
ExAC
gnomAD
CA371186431
rs1338593829
1565 I>V No ClinGen
gnomAD
rs778974444
CA4771501
1566 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs778974444
CA371186407
1566 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA178188508
rs538530120
1567 Q>H No ClinGen
gnomAD
rs947225314
CA178188507
1568 K>T No ClinGen
Ensembl
rs757127977
CA4771500
1569 S>F No ClinGen
ExAC
gnomAD
rs1292257643
CA371186341
1570 V>I No ClinGen
gnomAD
rs368780304
CA4771498
1572 I>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA4771497
rs368780304
1572 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748842649
COSM77284
CA4771499
1572 I>V ovary [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1384835038
CA371186279
1573 H>L No ClinGen
TOPMed
CA371186265
rs1563839149
1573 H>Q No ClinGen
Ensembl
CA178188466
rs914079132
1574 D>G No ClinGen
TOPMed
rs991217984
CA178188450
1578 P>R No ClinGen
Ensembl
rs1308125389
CA371186185
1578 P>S No ClinGen
TOPMed
rs755463973
CA4771494
1579 R>G No ClinGen
ExAC
gnomAD
rs751961605
CA4771493
1581 V>A No ClinGen
ExAC
gnomAD
CA178188414
rs371657272
1582 D>N No ClinGen
ESP
TOPMed
rs1164327469
CA371186095
1583 N>S No ClinGen
Ensembl
CA371186085
rs766927159
1584 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA178188393
rs185041603
1584 R>S No ClinGen
1000Genomes
CA4771492
rs766927159
1584 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs1474387977
CA371186068
1585 P>L No ClinGen
gnomAD
rs1164463476
CA371186075
1585 P>T No ClinGen
gnomAD
CA371185956
rs1182543725
1590 V>F No ClinGen
gnomAD
rs771627826
CA178188372
1591 S>F No ClinGen
gnomAD
rs771627826
CA371185944
1591 S>Y No ClinGen
gnomAD
CA4771490
rs200067038
1592 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs148891437
CA4771489
1592 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1231068075
CA371185913
1594 A>T No ClinGen
gnomAD
rs192893582
CA4771486
1596 N>K No ClinGen
1000Genomes
ExAC
gnomAD
rs759384353
CA4771485
1597 E>G No ClinGen
ExAC
gnomAD
rs1181758314
CA371185848
1599 V>A No ClinGen
TOPMed
CA371185774
rs1563839023
1605 T>A No ClinGen
Ensembl
rs1327415815
CA371185771
1605 T>R No ClinGen
gnomAD
CA4771467
rs753899026
1608 F>L No ClinGen
ExAC
gnomAD
rs760819223
CA4771465
1610 E>A No ClinGen
ExAC
gnomAD
rs774229384
CA4771464
1616 A>V Variant assessed as Somatic; 4.636e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs770578752
CA4771463
1621 C>R No ClinGen
ExAC
gnomAD
rs1438619127
CA371210203
1629 Q>H No ClinGen
TOPMed
rs1321046312
CA371210199
1630 T>A No ClinGen
gnomAD
CA371210191
rs1192023379
1631 I>V No ClinGen
gnomAD
rs773060622
CA4771461
1632 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4771460
rs201164020
1633 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1346565578
CA371210155
1634 I>F No ClinGen
gnomAD
rs1346565578
CA371210156
1634 I>V No ClinGen
gnomAD
rs1280207113
CA371210150
1635 V>I No ClinGen
gnomAD
TCGA novel 1636 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4771459
rs747676449
1637 F>S No ClinGen
ExAC
gnomAD
rs1364504901
CA371210109
1639 A>T No ClinGen
gnomAD
TCGA novel 1644 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1164047191
CA371210006
1653 Q>R No ClinGen
TOPMed
rs202145371
CA4771437
1655 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs746498172
CA4771438
1655 D>N No ClinGen
ExAC
gnomAD
rs771740489
CA4771436
1656 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA371209973
rs771740489
1656 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779182355
CA4771434
1661 V>A No ClinGen
ExAC
gnomAD
rs146795624
CA4771433
1662 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747174516
CA4771432
1662 R>H No ClinGen
ExAC
gnomAD
rs756186000
CA371209933
1663 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA4771430
rs756186000
1663 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA371209927
rs1475879568
1664 D>H No ClinGen
gnomAD
CA371209920
rs1420868062
1665 T>P No ClinGen
gnomAD
rs752814909
CA4771429
1667 D>N No ClinGen
ExAC
gnomAD
CA371209905
rs752814909
1667 D>Y No ClinGen
ExAC
gnomAD
rs1310875470
CA371209866
1672 R>C No ClinGen
TOPMed
gnomAD
rs200392828
CA4771428
1672 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA178225765
rs753932107
1673 F>L No ClinGen
Ensembl
CA4771427
rs755163996
1673 F>Y No ClinGen
ExAC
gnomAD
TCGA novel 1674 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1676 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765248096
CA4771425
1687 L>S No ClinGen
ExAC
gnomAD
rs1460740152
CA371209751
1689 S>A No ClinGen
gnomAD
rs776749836
CA4771423
1691 R>* No ClinGen
ExAC
gnomAD
CA371209708
rs140098688
1695 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140098688
COSM194695
CA4771421
1695 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745494130
CA4771418
1700 N>S No ClinGen
ExAC
gnomAD
CA371209669
rs771330319
1701 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771330319
CA4771416
1701 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA371209643
rs1195608205
1704 T>S No ClinGen
TOPMed
CA371209641
rs1317577733
1705 A>T No ClinGen
TOPMed
gnomAD
CA371209631
rs1265932859
1706 L>R No ClinGen
gnomAD
CA371209618
rs1223715004
1708 K>T No ClinGen
gnomAD
TCGA novel 1709 A>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1710 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4771396
rs770563842
1715 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA371208905
rs770563842
1715 S>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1718 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1718 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763363183
CA4771395
1718 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773562348
CA4771394
1720 L>V No ClinGen
ExAC
gnomAD
TCGA novel 1725 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1174799553
CA371208838
1725 S>T No ClinGen
gnomAD
CA4771392
rs748644009
1729 C>S No ClinGen
ExAC
gnomAD
CA4771391
rs781533455
1730 G>R No ClinGen
ExAC
gnomAD
CA371208777
rs1563832518
1732 R>C No ClinGen
Ensembl
TCGA novel 1733 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1261248319
CA371208730
1736 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA4771390
rs112331011
1736 R>W No ClinGen
ExAC
gnomAD
rs1295752067
CA371208698
1739 M>T No ClinGen
gnomAD
CA4771389
rs376386254
1739 M>V No ClinGen
ESP
ExAC
gnomAD
CA371208664
rs1211586520
1742 S>G No ClinGen
TOPMed
CA371208659
rs1258403438
1742 S>N No ClinGen
gnomAD
rs200667386
CA178224596
1742 S>R No ClinGen
1000Genomes
ExAC
gnomAD
CA4771387
rs758636963
1743 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA4771386
rs753689074
1743 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs372291665
CA4771384
1744 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1587023221
CA371208634
1745 S>G No ClinGen
Ensembl
CA4771383
rs148841369
1745 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA371208622
rs1169338020
1746 A>S No ClinGen
gnomAD
rs141949495
CA4771382
1749 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs909120619
CA178224565
1755 L>S No ClinGen
TOPMed
gnomAD
rs1352195908
CA371208437
1758 C>S No ClinGen
gnomAD
CA4771352
rs775732841
1771 E>D No ClinGen
ExAC
gnomAD
TCGA novel 1772 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA371208311
rs1455115002
1773 H>R No ClinGen
TOPMed
CA371208305
rs1232838320
1774 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs745904733
CA4771350
1775 E>K No ClinGen
ExAC
gnomAD
CA371208295
rs1372245205
1776 A>P No ClinGen
gnomAD
CA371207881
rs1159159227
1784 F>L No ClinGen
gnomAD
rs554847027
CA178223813
1787 K>N No ClinGen
Ensembl
TCGA novel 1789 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774697108
CA4771349
1791 I>M No ClinGen
ExAC
gnomAD
rs771042710
CA4771348
1792 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA371207747
rs1195463388
1792 S>T No ClinGen
gnomAD
CA371207696
rs780928406
1795 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1282973032
CA371206599
1796 F>L No ClinGen
TOPMed
CA4771285
rs770883946
1803 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 1803 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA4771284
rs748819686
1804 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 1805 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772781521
CA4771283
1807 L>V No ClinGen
ExAC
gnomAD
rs1488246912
CA371206408
1808 C>Y No ClinGen
gnomAD
CA4771281
rs747854182
1811 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1249315086
CA371206272
1815 L>F No ClinGen
TOPMed
rs1051426438
CA178222536
1815 L>M No ClinGen
TOPMed
gnomAD
CA4771279
rs755365542
1817 P>A No ClinGen
ExAC
gnomAD
CA371206200
rs1301632153
1820 R>H No ClinGen
gnomAD
CA371206190
rs1386019458
1821 A>V No ClinGen
gnomAD
CA4771278
rs780443181
1822 V>I No ClinGen
ExAC
gnomAD
CA4771277
rs780443181
1822 V>L No ClinGen
ExAC
gnomAD
rs879166392
CA178222530
1823 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA371206167
rs1189313598
1824 R>G No ClinGen
TOPMed
TCGA novel 1829 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM274020
rs750537195
CA4771274
1831 G>R kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs765254352
CA4771273
1832 V>I No ClinGen
ExAC
gnomAD
rs1177181414
CA371205934
1835 Q>H No ClinGen
gnomAD
CA4771272
rs757302258
1836 I>L No ClinGen
ExAC
gnomAD
CA4771271
rs754044082
1837 S>P No ClinGen
ExAC
gnomAD
rs754044082
CA371205917
1837 S>T No ClinGen
ExAC
gnomAD
rs921667617
CA178222510
1842 Q>R No ClinGen
TOPMed
CA371205779
rs1214544003
1843 E>A No ClinGen
gnomAD
CA178222508
rs991959376
1844 L>F No ClinGen
gnomAD
rs764369258
CA4771270
1849 Q>* No ClinGen
ExAC
gnomAD

No associated diseases with Q9Y6D6

2 regional properties for Q9Y6D6

Type Name Position InterPro Accession
domain Protein kinase domain 120 - 380 IPR000719
active_site Serine/threonine-protein kinase, active site 239 - 251 IPR008271

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Cytoplasm, perinuclear region
  • Golgi apparatus
  • Golgi apparatus, trans-Golgi network membrane
  • Nucleus
  • Nucleus, nucleolus
  • Nucleus matrix
  • Translocates from cytoplasm to membranes and nucleus upon cAMP treatment
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

9 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
nuclear matrix The dense fibrillar network lying on the inner side of the nuclear membrane.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.
small nuclear ribonucleoprotein complex A ribonucleoprotein complex that contains at least one RNA of the small nuclear RNA (snRNA) class and as well as its associated proteins. These are typically named after the snRNA(s) they contain, e.g. U1 snRNP, U4/U6 snRNP, or 7SK snRNP. Many, of these complexes become part of the spliceosome involved in splicing of nuclear mRNAs. Others are involved in regulation of transcription elongation or 3'-end processing of replication-dependent histone pre-mRNAs.
trans-Golgi network The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

3 GO annotations of molecular function

Name Definition
guanyl-nucleotide exchange factor activity Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
myosin binding Binding to a myosin; myosins are any of a superfamily of molecular motor proteins that bind to actin and use the energy of ATP hydrolysis to generate force and movement along actin filaments.
protein kinase A regulatory subunit binding Binding to one or both of the regulatory subunits of protein kinase A.

10 GO annotations of biological process

Name Definition
endomembrane system organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endomembrane system.
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 organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
negative regulation of actin filament polymerization Any process that stops, prevents, or reduces the frequency, rate or extent of actin polymerization.
negative regulation of GTPase activity Any process that stops or reduces the rate of GTP hydrolysis by a GTPase.
positive regulation of wound healing Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury.
protein glycosylation A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins.
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of ARF protein signal transduction Any process that modulates the frequency, rate or extent of ARF protein signal transduction.
regulation of establishment of cell polarity Any process that modulates the frequency, rate or extent of establishment of cell polarity.

14 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O46382 ARFGEF1 Brefeldin A-inhibited guanine nucleotide-exchange protein 1 Bos taurus (Bovine) PR
Q9Y6D5 ARFGEF2 Brefeldin A-inhibited guanine nucleotide-exchange protein 2 Homo sapiens (Human) PR
Q9UIA0 CYTH4 Cytohesin-4 Homo sapiens (Human) SS
Q5JU85 IQSEC2 IQ motif and SEC7 domain-containing protein 2 Homo sapiens (Human) EV
Q9UPP2 IQSEC3 IQ motif and SEC7 domain-containing protein 3 Homo sapiens (Human) SS
Q6DN90 IQSEC1 IQ motif and SEC7 domain-containing protein 1 Homo sapiens (Human) EV
Q99418 CYTH2 Cytohesin-2 Homo sapiens (Human) SS
O43739 CYTH3 Cytohesin-3 Homo sapiens (Human) EV
Q15438 CYTH1 Cytohesin-1 Homo sapiens (Human) SS
Q92538 GBF1 Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 Homo sapiens (Human) PR
A2A5R2 Arfgef2 Brefeldin A-inhibited guanine nucleotide-exchange protein 2 Mus musculus (Mouse) PR
G3X9K3 Arfgef1 Brefeldin A-inhibited guanine nucleotide-exchange protein 1 Mus musculus (Mouse) PR
D4A631 Arfgef1 Brefeldin A-inhibited guanine nucleotide-exchange protein 1 Rattus norvegicus (Rat) PR
Q7TSU1 Arfgef2 Brefeldin A-inhibited guanine nucleotide-exchange protein 2 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MYEGKKTKNM FLTRALEKIL ADKEVKKAHH SQLRKACEVA LEEIKAETEK QSPPHGEAKA
70 80 90 100 110 120
GSSTLPPVKS KTNFIEADKY FLPFELACQS KCPRIVSTSL DCLQKLIAYG HLTGNAPDST
130 140 150 160 170 180
TPGKKLIDRI IETICGCFQG PQTDEGVQLQ IIKALLTAVT SQHIEIHEGT VLQAVRTCYN
190 200 210 220 230 240
IYLASKNLIN QTTAKATLTQ MLNVIFARME NQALQEAKQM EKERHRQHHH LLQSPVSHHE
250 260 270 280 290 300
PESPQLRYLP PQTVDHISQE HEGDLDLHTN DVDKSLQDDT EPENGSDISS AENEQTEADQ
310 320 330 340 350 360
ATAAETLSKN EVLYDGENHD CEEKPQDIVQ NIVEEMVNIV VGDMGEGTTI NASADGNIGT
370 380 390 400 410 420
IEDGSDSENI QANGIPGTPI SVAYTPSLPD DRLSVSSNDT QESGNSSGPS PGAKFSHILQ
430 440 450 460 470 480
KDAFLVFRSL CKLSMKPLSD GPPDPKSHEL RSKILSLQLL LSILQNAGPI FRTNEMFINA
490 500 510 520 530 540
IKQYLCVALS KNGVSSVPEV FELSLSIFLT LLSNFKTHLK MQIEVFFKEI FLYILETSTS
550 560 570 580 590 600
SFDHKWMVIQ TLTRICADAQ SVVDIYVNYD CDLNAANIFE RLVNDLSKIA QGRGSQELGM
610 620 630 640 650 660
SNVQELSLRK KGLECLVSIL KCMVEWSKDQ YVNPNSQTTL GQEKPSEQEM SEIKHPETIN
670 680 690 700 710 720
RYGSLNSLES TSSSGIGSYS TQMSGTDNPE QFEVLKQQKE IIEQGIDLFN KKPKRGIQYL
730 740 750 760 770 780
QEQGMLGTTP EDIAQFLHQE ERLDSTQVGE FLGDNDKFNK EVMYAYVDQH DFSGKDFVSA
790 800 810 820 830 840
LRMFLEGFRL PGEAQKIDRL MEKFAARYLE CNQGQTLFAS ADTAYVLAYS IIMLTTDLHS
850 860 870 880 890 900
PQVKNKMTKE QYIKMNRGIN DSKDLPEEYL SAIYNEIAGK KISMKETKEL TIPTKSSKQN
910 920 930 940 950 960
VASEKQRRLL YNLEMEQMAK TAKALMEAVS HVQAPFTSAT HLEHVRPMFK LAWTPFLAAF
970 980 990 1000 1010 1020
SVGLQDCDDT EVASLCLEGI RCAIRIACIF SIQLERDAYV QALARFTLLT VSSGITEMKQ
1030 1040 1050 1060 1070 1080
KNIDTIKTLI TVAHTDGNYL GNSWHEILKC ISQLELAQLI GTGVKPRYIS GTVRGREGSL
1090 1100 1110 1120 1130 1140
TGTKDQAPDE FVGLGLVGGN VDWKQIASIQ ESIGETSSQS VVVAVDRIFT GSTRLDGNAI
1150 1160 1170 1180 1190 1200
VDFVRWLCAV SMDELLSTTH PRMFSLQKIV EISYYNMGRI RLQWSRIWEV IGDHFNKVGC
1210 1220 1230 1240 1250 1260
NPNEDVAIFA VDSLRQLSMK FLEKGELANF RFQKDFLRPF EHIMKRNRSP TIRDMVVRCI
1270 1280 1290 1300 1310 1320
AQMVNSQAAN IRSGWKNIFS VFHLAASDQD ESIVELAFQT TGHIVTLVFE KHFPATIDSF
1330 1340 1350 1360 1370 1380
QDAVKCLSEF ACNAAFPDTS MEAIRLIRHC AKYVSDRPQA FKEYTSDDMN VAPEDRVWVR
1390 1400 1410 1420 1430 1440
GWFPILFELS CIINRCKLDV RTRGLTVMFE IMKTYGHTYE KHWWQDLFRI VFRIFDNMKL
1450 1460 1470 1480 1490 1500
PEQQTEKAEW MTTTCNHALY AICDVFTQYL EVLSDVLLDD IFAQLYWCVQ QDNEQLARSG
1510 1520 1530 1540 1550 1560
TNCLENVVIL NGEKFTLEIW DKTCNCTLDI FKTTIPHALL TWRPNSGETA PPPPSPVSEK
1570 1580 1590 1600 1610 1620
PLDTISQKSV DIHDSIQPRS VDNRPQAPLV SASAVNEEVS KIKSTAKFPE QKLFAALLIK
1630 1640 1650 1660 1670 1680
CVVQLELIQT IDNIVFFPAT SKKEDAENLA AAQRDAVDFD VRVDTQDQGM YRFLTSQQLF
1690 1700 1710 1720 1730 1740
KLLDCLLESH RFAKAFNSNN EQRTALWKAG FKGKSKPNLL KQETSSLACG LRILFRMYMD
1750 1760 1770 1780 1790 1800
ESRVSAWEEV QQRLLNVCSE ALSYFLTLTS ESHREAWTNL LLLFLTKVLK ISDNRFKAHA
1810 1820 1830 1840
SFYYPLLCEI MQFDLIPELR AVLRRFFLRI GVVFQISQPP EQELGINKQ