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 Q9P2E7

Entry ID Method Resolution Chain Position Source
6VFQ X-ray 230 A A 18-455 PDB
6VFW X-ray 360 A A/B/C/D/E 18-455 PDB
6VG4 X-ray 330 A A 18-680 PDB
AF-Q9P2E7-F1 Predicted AlphaFoldDB

920 variants for Q9P2E7

Variant ID(s) Position Change Description Diseaes Association Provenance
rs116781506
CA105755374
2 I>T No ClinGen
1000Genomes
CA105755377
rs375749102
4 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375749102
CA3080363
4 L>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1407981421
CA358239628
6 L>F No ClinGen
gnomAD
CA358239626
rs1165729119
6 L>S No ClinGen
TOPMed
rs1425701360
CA358239634
7 F>S No ClinGen
TOPMed
CA3080365
rs753832377
9 L>S No ClinGen
ExAC
gnomAD
rs368206412
CA3080366
10 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs867599305
CA105755427
11 W>* No ClinGen
Ensembl
rs762223263
CA3080367
11 W>C No ClinGen
ExAC
gnomAD
rs976266456
CA105755411
11 W>R No ClinGen
TOPMed
CA3080368
rs750687431
12 M>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA358239662
rs1276183716
12 M>V No ClinGen
TOPMed
gnomAD
rs754749638
CA3080369
13 V>M No ClinGen
ExAC
gnomAD
rs563007379
CA3080370
18 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1212256008
CA358239704
18 S>Y No ClinGen
TOPMed
rs748011975
CA3080371
21 H>R No ClinGen
ExAC
gnomAD
rs1470992448
CA358239752
25 Q>R No ClinGen
TOPMed
gnomAD
rs777800344
CA3080373
28 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA358239778
rs1406659209
28 Q>H No ClinGen
gnomAD
CA358239772
rs777800344
COSM365825
28 Q>K lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA3080374
rs748700335
29 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA105755493
rs1009885132
29 E>K No ClinGen
TOPMed
gnomAD
CA358239780
rs1009885132
29 E>Q No ClinGen
TOPMed
gnomAD
rs748700335
CA358239782
29 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs531804222
CA3080375
30 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs773930757
CA3080376
31 G>C No ClinGen
ExAC
gnomAD
CA105755525
rs904040572
32 T>P No ClinGen
Ensembl
rs1427868771
CA358239808
33 F>L No ClinGen
gnomAD
CA358239807
rs1578554314
33 F>S No ClinGen
Ensembl
rs1307394518
CA358239816
35 G>R No ClinGen
gnomAD
CA105755543
rs938083742
36 N>D No ClinGen
Ensembl
CA3080378
rs771770018
38 A>T No ClinGen
ExAC
gnomAD
CA3080379
rs775811196
39 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA358239855
rs1214859449
40 D>E No ClinGen
gnomAD
rs761142755
CA3080380
44 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA3080381
rs75753256
45 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA358239886
rs1203788582
45 I>S No ClinGen
gnomAD
rs1339508760
CA358239882
45 I>V No ClinGen
TOPMed
gnomAD
CA3080382
rs777214935
49 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs367823724
CA105755550
51 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
CA358239923
rs1578554380
51 R>P No ClinGen
Ensembl
TCGA novel 53 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761741894
CA3080383
53 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1578554385
CA358239933
53 F>V No ClinGen
Ensembl
CA3080384
rs199719551
COSM1051217
55 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 60 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763249787
CA3080386
61 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA3080387
rs766754107
62 P>L No ClinGen
ExAC
gnomAD
CA358239989
rs1454162686
62 P>T No ClinGen
TOPMed
CA3080388
rs192334683
67 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358240027
rs1212094668
67 N>S No ClinGen
TOPMed
rs199575594
CA3080389
68 L>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777517473
CA3080390
CA358240040
69 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA358240050
rs1349157940
71 G>E No ClinGen
gnomAD
CA105755571
COSM1671330
rs1015641773
72 V>M pancreas large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA358240063
rs1578554477
74 Y>D No ClinGen
Ensembl
CA3080393
rs778382758
75 V>L No ClinGen
ExAC
gnomAD
CA358240079
rs1233112345
76 N>T No ClinGen
TOPMed
COSM1427077
rs767880576
CA358240084
77 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs767880576
CA105755587
77 E>Q No ClinGen
gnomAD
CA358240139
rs1305382492
84 I>S No ClinGen
TOPMed
TCGA novel 86 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 87 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 88 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358240173
rs1380421203
88 S>R No ClinGen
TOPMed
rs267600021
CA105755603
89 P>L No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 95 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358240216
rs1323387622
95 L>P No ClinGen
TOPMed
gnomAD
TCGA novel 96 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080398
rs769078035
96 E>G No ClinGen
ExAC
gnomAD
CA3080399
rs776935568
97 V>I No ClinGen
ExAC
gnomAD
rs1386005444
CA358240257
101 N>K No ClinGen
gnomAD
TCGA novel 103 L>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762372926
CA3080400
103 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA358240280
rs1412954160
105 L>P No ClinGen
gnomAD
CA358240294
rs1396018969
107 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1401174478
CA358240306
109 E>* No ClinGen
TOPMed
gnomAD
rs773401901
CA3080402
110 I>M No ClinGen
ExAC
rs1161103110
CA358240320
111 E>* No ClinGen
TOPMed
gnomAD
CA358240323
rs1386103376
111 E>A No ClinGen
TOPMed
gnomAD
CA358240322
rs1386103376
111 E>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA358240335
rs1341784951
113 L>P No ClinGen
gnomAD
rs1336973927
CA358240333
113 L>V No ClinGen
gnomAD
TCGA novel 114 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 114 D>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1283038224
CA358240338
114 D>Y No ClinGen
gnomAD
rs763162620
CA3080403
115 I>V No ClinGen
ExAC
gnomAD
rs1327512066
CA358240357
116 N>K No ClinGen
gnomAD
CA358240365
rs1257090681
117 D>E No ClinGen
gnomAD
CA358240359
rs1208420374
117 D>N No ClinGen
gnomAD
CA358240372
rs1578554674
118 N>T No ClinGen
Ensembl
CA3080406
rs751822234
119 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1236906576
CA358240382
120 P>S No ClinGen
gnomAD
rs759095467 121 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1578554729
TCGA novel
CA358240396
122 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
rs1409564260
CA358240405
123 P>L No ClinGen
TOPMed
gnomAD
rs1409564260
CA358240404
123 P>R No ClinGen
TOPMed
gnomAD
CA358240400
rs1184236154
123 P>T No ClinGen
gnomAD
rs760324195
CA3080407
126 D>G No ClinGen
ExAC
gnomAD
rs1456479103
CA358240420
126 D>N No ClinGen
TOPMed
gnomAD
TCGA novel 128 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080408
rs149125153
128 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757165208
CA3080410
130 E>K No ClinGen
ExAC
gnomAD
rs1411039109
CA358240485
136 T>A No ClinGen
TOPMed
gnomAD
rs1349065131
CA358240505
139 T>S No ClinGen
gnomAD
TCGA novel 140 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749897580
CA358240530
143 L>V No ClinGen
ExAC
gnomAD
CA105755708
rs753313626
144 E>* No ClinGen
Ensembl
rs757923593
CA358240563
147 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA358240578
rs1414365466
149 P>L No ClinGen
TOPMed
CA358240590
rs1486283885
151 V>E No ClinGen
Ensembl
rs779623384
CA3080415
153 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA358240626
rs746677791
157 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs754653138
COSM1427081
CA3080417
157 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs746677791
CA3080416
157 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs558226824
CA3080418
160 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1578554871
CA358240652
161 I>F No ClinGen
Ensembl
CA358240664
rs1254719851
162 T>I No ClinGen
TOPMed
rs935822454
CA105755739
163 P>L No ClinGen
TOPMed
rs748506370
CA3080419
163 P>S No ClinGen
ExAC
gnomAD
CA358240673
rs1379086396
COSM3380811
164 N>S pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
CA3080422
rs749325067
165 S>N No ClinGen
ExAC
gnomAD
TCGA novel 166 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767681896
CA3080426
170 D>E No ClinGen
ExAC
gnomAD
rs759795511
CA3080425
170 D>G No ClinGen
ExAC
gnomAD
rs1431074158
CA358240712
170 D>N No ClinGen
gnomAD
rs1431074158
CA358240713
170 D>Y No ClinGen
gnomAD
rs776456421
CA3080427
COSM732597
171 V>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs776456421
CA3080428
171 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA3080429
rs765112971
172 Q>H No ClinGen
ExAC
gnomAD
CA105755839
rs879665379
173 T>A No ClinGen
TOPMed
gnomAD
CA3080430
rs750372221
174 Q>K No ClinGen
ExAC
gnomAD
rs200972850
CA105755859
175 G>E No ClinGen
TOPMed
gnomAD
CA3080431
rs757835485
176 D>N No ClinGen
ExAC
gnomAD
CA3080432
rs575013206
177 G>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1220339618
CA358240761
178 N>S No ClinGen
TOPMed
rs1482690505
CA358240776
180 F>L No ClinGen
TOPMed
gnomAD
rs1291486899
CA358240793
183 L>V No ClinGen
TOPMed
rs751084288
CA3080433
184 V>G No ClinGen
ExAC
CA3080436
rs748503100
185 L>R No ClinGen
ExAC
rs780745556
CA3080435
185 L>V No ClinGen
ExAC
rs756563210
CA3080438
186 E>* No ClinGen
ExAC
gnomAD
CA3080437
rs756563210
186 E>K No ClinGen
ExAC
gnomAD
rs925443200
CA105755936
188 P>L No ClinGen
TOPMed
rs1166212333
CA358240871
195 A>G No ClinGen
TOPMed
gnomAD
rs1389899402
CA358240866
195 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
COSM1427083
rs1166212333
CA358240869
195 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA3080442
rs745975351
196 V>M No ClinGen
ExAC
gnomAD
CA3080443
rs541212130
197 H>Y No ClinGen
ExAC
gnomAD
rs775599412
CA3080444
198 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358240886
rs1393421720
198 R>H No ClinGen
TOPMed
gnomAD
CA358240888
rs1393421720
198 R>L No ClinGen
TOPMed
gnomAD
CA358240885
rs775599412
198 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA3080445
rs761536772
199 Y>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 203 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358240924
rs1578555099
204 V>G No ClinGen
Ensembl
rs1295524721
CA358240919
204 V>M No ClinGen
gnomAD
rs1245481352
CA358240933
206 G>R No ClinGen
gnomAD
CA358240943
rs1341327449
207 G>E No ClinGen
gnomAD
CA3080447
rs773057641
207 G>R No ClinGen
ExAC
gnomAD
CA3080448
rs762863458
208 G>S No ClinGen
ExAC
gnomAD
rs1250924987
CA358240952
209 G>A No ClinGen
TOPMed
rs766272106
CA3080449
209 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA358240954
rs1186260514
210 G>R No ClinGen
gnomAD
rs372117692
CA3080450
211 G>E No ClinGen
ESP
ExAC
gnomAD
CA105756016
rs373183851
211 G>R No ClinGen
gnomAD
rs1200351481
CA358240968
212 V>A No ClinGen
TOPMed
rs1200351481
CA358240969
212 V>G No ClinGen
TOPMed
rs1233828172
CA358240973
213 G>E No ClinGen
TOPMed
rs1272542820
CA358240972
213 G>R No ClinGen
TOPMed
rs767146068
CA358240976
214 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3080453
rs767146068
214 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs12650626
CA105756063
215 G>E No ClinGen
TOPMed
CA358240987
rs12650626
215 G>V No ClinGen
TOPMed
rs1437607219
CA358240989
216 G>E No ClinGen
gnomAD
CA3080456
CA3080455
rs755899916
216 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA3080458
rs757751413
217 G>E No ClinGen
ExAC
gnomAD
rs745913428
CA3080460
218 G>S No ClinGen
ExAC
gnomAD
CA3080462
rs201815764
219 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs772060602
CA3080461
219 G>S No ClinGen
ExAC
gnomAD
rs201815764
CA3080463
219 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs141457827
CA358241006
CA3080465
220 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770859228
CA3080467
221 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs770859228
CA358241014
221 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1483341217
CA358241024
223 G>D No ClinGen
gnomAD
CA3080468
rs774175355
223 G>S No ClinGen
ExAC
gnomAD
rs1483341217
CA358241026
223 G>V No ClinGen
gnomAD
rs766935744
CA3080471
225 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs756419250
CA105756194
225 P>S No ClinGen
gnomAD
CA358241038
rs760385127
226 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA3080473
rs760385127
226 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs760385127
CA358241039
226 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs752317184
CA3080472
226 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs752317184
CA358241036
226 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA358241040
rs997547342
227 Q>E No ClinGen
TOPMed
gnomAD
CA105756235
rs997547342
227 Q>K No ClinGen
TOPMed
gnomAD
rs762465989 227 Q>P Variant assessed as Somatic; 0.0002022 impact. [NCI-TCGA] No NCI-TCGA
CA358241042
rs1578555349
227 Q>P No ClinGen
Ensembl
CA358241050
rs1464310006
228 Q>P No ClinGen
TOPMed
gnomAD
CA358241074
rs1466682223
231 T>I No ClinGen
gnomAD
CA358241070
rs1560702090
231 T>S No ClinGen
Ensembl
rs757585341
CA3080476
234 A>P No ClinGen
ExAC
gnomAD
CA358241098
rs1407058781
236 L>V No ClinGen
gnomAD
rs750897482
CA3080478
237 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs750897482
CA358241107
237 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA358241117
rs1312444319
239 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA105756288
rs750578293
244 N>I No ClinGen
ExAC
gnomAD
CA3080480
rs750578293
244 N>S No ClinGen
ExAC
gnomAD
CA358241171
rs1310590814
247 V>G No ClinGen
TOPMed
gnomAD
rs199927426
CA105756310
247 V>M No ClinGen
1000Genomes
gnomAD
CA3080484
rs375479426
251 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA105756321
rs986553655
251 D>H No ClinGen
TOPMed
gnomAD
CA358241204
rs1385056501
252 Q>H No ClinGen
TOPMed
TCGA novel 253 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358241219
rs1178471778
255 Y>H No ClinGen
gnomAD
CA358241239
rs1357571919
258 S>P No ClinGen
gnomAD
TCGA novel 259 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080487
rs147313392
264 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760293091
CA3080490
265 P>S No ClinGen
ExAC
gnomAD
CA3080492
rs376487876
266 G>A No ClinGen
ESP
ExAC
gnomAD
TCGA novel 266 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760135106
CA105756408
267 T>I No ClinGen
Ensembl
CA358241298
rs1311163729
268 L>V No ClinGen
gnomAD
TCGA novel 271 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1427086
rs766911892
CA358241337
CA3080497
273 N>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
NCI-TCGA
CA358241335
rs1484338927
273 N>S No ClinGen
gnomAD
CA358241338
rs1560702227
274 A>T No ClinGen
Ensembl
CA358241353
rs1578555571
276 D>A No ClinGen
Ensembl
CA3080498
rs751594784
277 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA358241361
rs1489011224
277 P>L No ClinGen
gnomAD
CA105756433
rs751594784
277 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA358241371
rs1423344373
279 E>K No ClinGen
TOPMed
gnomAD
rs1423344373
COSM1618383
CA358241372
279 E>Q liver [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA3080501
rs748316231
281 Q>E No ClinGen
ExAC
gnomAD
CA358241388
rs1346032169
281 Q>R No ClinGen
TOPMed
rs756420365
CA3080502
282 N>S No ClinGen
ExAC
gnomAD
CA358241401
rs1578555625
283 G>A No ClinGen
Ensembl
CA3080504
rs745716961
283 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA3080505
COSM246394
rs772098781
284 E>D prostate [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA3080506
rs775594011
285 V>I No ClinGen
ExAC
gnomAD
rs754949546
CA3080508
286 V>L No ClinGen
ExAC
gnomAD
rs754949546
CA3080509
286 V>M No ClinGen
ExAC
gnomAD
rs761355771
CA3080510
287 Y>F No ClinGen
ExAC
gnomAD
CA105756498
rs370972266
289 F>L No ClinGen
Ensembl
CA358241439
rs1299199867
290 S>R No ClinGen
gnomAD
rs764985616
CA3080511
290 S>T No ClinGen
ExAC
gnomAD
rs773414657
CA3080512
292 H>Y No ClinGen
ExAC
gnomAD
TCGA novel 293 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080513
rs763406461
COSM1485669
295 P>S Variant assessed as Somatic; 4.698e-05 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA358241480
rs1430659367
296 R>W No ClinGen
TOPMed
CA3080515
rs752073353
297 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 297 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1468223193
COSM3825192
CA358241490
298 R>W Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA105756542
rs546430185
300 L>I No ClinGen
1000Genomes
gnomAD
rs1250024117
CA358241506
300 L>R No ClinGen
TOPMed
gnomAD
rs1447729386
COSM1165946
CA358241508
301 F>L large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA358241518
rs1176501665
302 G>A No ClinGen
TOPMed
CA3080517
rs767573925
302 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA3080519
rs756259780
304 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752872197
CA3080518
304 S>P No ClinGen
ExAC
gnomAD
CA358241531
rs1435419002
305 P>A No ClinGen
gnomAD
CA105756574
rs375893532
306 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375893532
CA3080521
306 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778087588
CA3080520
306 R>S No ClinGen
ExAC
gnomAD
CA358241540
rs1284209133
307 T>A No ClinGen
gnomAD
CA3080522
rs566769897
307 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs746941061
CA3080524
309 R>* No ClinGen
ExAC
gnomAD
CA358241553
rs1167200103
309 R>K No ClinGen
TOPMed
rs1167200103
CA358241552
309 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA358241573
rs1578555791
312 V>G No ClinGen
Ensembl
rs775979415
CA3080526
312 V>I No ClinGen
ExAC
gnomAD
CA3080527
rs747730119
313 S>G No ClinGen
ExAC
gnomAD
rs769286962
CA3080529
313 S>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 314 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080531
rs766732233
315 E>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA105756667
rs143860002
315 E>D No ClinGen
ESP
TOPMed
rs774757689
CA3080532
315 E>V No ClinGen
ExAC
gnomAD
rs374912193
CA3080533
316 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374912193
CA358241591
316 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel
rs768053081
CA3080534
317 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
gnomAD
CA358241607
rs1161038664
318 Y>C No ClinGen
gnomAD
rs752679579
CA3080535
319 E>D No ClinGen
ExAC
gnomAD
rs367981995
CA3080536
320 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1334273942
CA358241631
321 S>I No ClinGen
gnomAD
rs757623259
CA3080539
324 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 325 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080541
rs751446452
327 Y>* No ClinGen
ExAC
gnomAD
rs1319258672
CA358241678
328 V>A No ClinGen
TOPMed
TCGA novel 330 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868725043
CA105756739
335 P>F No ClinGen
Ensembl
rs754932318
CA3080542
335 P>L No ClinGen
ExAC
gnomAD
rs1208719529
CA358241729
336 N>S No ClinGen
gnomAD
CA358241738
rs1359977307
337 A>V No ClinGen
gnomAD
TCGA novel 339 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 342 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358241826
rs1469354669
351 A>S No ClinGen
gnomAD
TCGA novel 353 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358241852
rs1449797802
354 N>K No ClinGen
TOPMed
rs778912119
CA105756751
355 A>T No ClinGen
TOPMed
gnomAD
rs1403806906
CA358241864
356 P>L No ClinGen
gnomAD
TCGA novel 356 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1412249473
CA358241873
358 I>V No ClinGen
gnomAD
TCGA novel 360 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs143231760
CA3080547
361 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA105756783
rs997661414
363 V>A No ClinGen
TOPMed
rs770621178
CA105756774
363 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs770621178
CA3080548
363 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs200452344
CA3080550
365 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1347285798
CA358241930
366 A>E No ClinGen
gnomAD
TCGA novel 366 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1347285798
CA358241932
366 A>V No ClinGen
gnomAD
rs760608365
CA358241945
CA3080553
368 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs753926319
CA3080555
370 G>S No ClinGen
ExAC
gnomAD
rs1204322268
CA358241963
371 A>G No ClinGen
TOPMed
rs1199200354
CA358241970
COSM1539410
372 A>E lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1437013913
CA358241965
372 A>T No ClinGen
gnomAD
CA358241978
rs1297468762
374 G>R No ClinGen
gnomAD
rs1297468762
CA358241977
374 G>S No ClinGen
gnomAD
CA105756845
rs373727018
375 T>I No ClinGen
ESP
rs1390201811
CA358241988
376 V>M No ClinGen
gnomAD
rs752684076
CA3080561
378 A>V No ClinGen
ExAC
gnomAD
rs1394863645
CA358242005
379 L>I No ClinGen
gnomAD
TCGA novel 381 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745922419
CA358242026
381 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs777316977
CA3080563
383 T>I No ClinGen
ExAC
gnomAD
CA358242036
rs777316977
383 T>N No ClinGen
ExAC
gnomAD
rs1229640770
CA358242071
388 E>G No ClinGen
TOPMed
rs1370779661
CA358242085
390 N>D No ClinGen
TOPMed
CA358242106
rs1302835631
393 V>M No ClinGen
gnomAD
rs770531453
CA3080565
394 Q>H No ClinGen
ExAC
gnomAD
TCGA novel 395 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 395 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 396 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358242141
rs1249531138
398 L>M No ClinGen
gnomAD
CA105756888
rs567813670
398 L>Q No ClinGen
1000Genomes
TOPMed
CA358242157
rs1578556139
COSM125150
400 D>E upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
Ensembl
CA358242152
rs1338604469
400 D>Y No ClinGen
gnomAD
TCGA novel 401 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358242160
rs1311321734
401 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 404 R>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358242181
rs1210216695
404 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs372241935
CA3080566
405 L>P No ClinGen
ESP
ExAC
CA358242193
rs1269154126
406 K>M No ClinGen
gnomAD
rs746177603
CA3080567
406 K>N No ClinGen
ExAC
gnomAD
rs772494051
CA3080568
407 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA3080569
rs772494051
407 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1450786336
CA358242217
410 K>T No ClinGen
gnomAD
TCGA novel 411 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs554035994
CA3080571
412 Y>D No ClinGen
1000Genomes
ExAC
gnomAD
rs776818929
CA3080572
413 Y>H No ClinGen
ExAC
gnomAD
CA358242248
rs1461887662
414 T>S No ClinGen
TOPMed
gnomAD
rs1485892049
CA358242257
416 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA105756946
rs918120081
COSM204404
417 T>A Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA3080574
rs765503407
418 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA358242269
rs765503407
418 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs773581880
CA3080575
419 A>T No ClinGen
ExAC
gnomAD
rs949429837
CA105756952
419 A>V No ClinGen
gnomAD
rs759185294
CA3080576
420 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1437386083
CA358242281
420 P>S No ClinGen
gnomAD
TCGA novel 421 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358242287
rs1245363827
421 L>P No ClinGen
gnomAD
rs1325814675
CA358242285
421 L>V No ClinGen
gnomAD
TCGA novel 421 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358242289
rs1560702768
422 D>N No ClinGen
Ensembl
rs1332372413
CA358242299
COSM420202
423 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs577486596
CA3080578
425 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs997329573
CA105756985
427 D>G No ClinGen
Ensembl
rs115793740
CA3080580
RCV000905082
428 S>F No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs115793740
CA358242331
428 S>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1560702799
CA358242334
429 Y>H No ClinGen
Ensembl
rs1578556316
CA358242341
430 T>P No ClinGen
Ensembl
rs1432879254
CA358242350
431 L>P No ClinGen
gnomAD
CA3080584
CA358242359
rs745519747
433 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs375417800
CA3080585
435 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375417800
CA3080586
435 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769163835
CA3080588
436 R>P No ClinGen
ExAC
gnomAD
rs747371693
CA3080587
436 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs777296108
CA3080589
437 D>G No ClinGen
ExAC
gnomAD
rs1294176009
CA358242385
438 R>Q No ClinGen
TOPMed
CA3080590
rs748177621
440 E>K No ClinGen
ExAC
gnomAD
rs748177621
CA358242395
440 E>Q No ClinGen
ExAC
gnomAD
CA358242406
rs1384319588
441 P>L No ClinGen
gnomAD
rs773492018
CA3080592
442 A>T No ClinGen
ExAC
gnomAD
TCGA novel 443 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358242418
rs1353388011
444 S>T No ClinGen
gnomAD
CA358242429
rs1232469238
445 T>I No ClinGen
gnomAD
rs901705818
CA105757150
446 S>G No ClinGen
gnomAD
rs556877549
CA105757151
448 S>L No ClinGen
1000Genomes
gnomAD
CA3080596
rs114829586
449 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA358242462
rs1201589695
450 Q>H No ClinGen
gnomAD
rs1483290496
CA358242456
450 Q>K No ClinGen
gnomAD
CA3080597
rs376225552
451 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358242476
rs1578556424
452 Q>H No ClinGen
Ensembl
TCGA novel 452 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 461 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 461 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel
CA358242559
rs1421157418
464 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
CA358242558
rs1413096702
464 S>T No ClinGen
gnomAD
TCGA novel 465 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1466602162
COSM1427092
CA358242574
466 P>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1363364349
CA358242571
466 P>S No ClinGen
TOPMed
gnomAD
rs1363364349
CA358242569
466 P>T No ClinGen
TOPMed
gnomAD
CA358242575
rs1314759356
467 V>F No ClinGen
gnomAD
CA358242593
rs1308463458
469 D>E No ClinGen
gnomAD
CA3080601
rs749953433
469 D>G No ClinGen
ExAC
gnomAD
rs764716959
CA3080600
469 D>H No ClinGen
ExAC
gnomAD
CA358242597
rs1365644835
470 V>L No ClinGen
gnomAD
CA358242607
rs1305835924
471 Y>* No ClinGen
gnomAD
CA358242606
rs1221785019
471 Y>F No ClinGen
gnomAD
CA3080604
rs182593405
473 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358242632
rs1277522804
475 N>S No ClinGen
gnomAD
CA358242631
rs1277522804
475 N>T No ClinGen
gnomAD
rs1560702971
CA358242643
476 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA358242653
rs1158065004
478 P>L No ClinGen
gnomAD
rs1484989188
CA358242662
480 A>T No ClinGen
TOPMed
gnomAD
CA3080605
rs145695387
481 Y>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358242676
rs1277896344
482 I>V No ClinGen
TOPMed
CA3080607
rs571420933
485 V>A No ClinGen
ExAC
gnomAD
rs781169797
CA3080608
486 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA3080609
rs748097682
CA358242711
486 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA3080611
rs771137404
487 A>S No ClinGen
ExAC
gnomAD
TCGA novel 487 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1578556568
CA358242726
488 T>A No ClinGen
Ensembl
rs1406693424
CA358242733
488 T>I No ClinGen
gnomAD
CA358242724
rs1578556568
488 T>P No ClinGen
Ensembl
rs1020666292
CA105757284
490 R>G No ClinGen
TOPMed
rs148933278
CA3080612
490 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148933278
CA358242754
490 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148933278
CA105757292
490 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358242775
rs1560703029
492 E>K No ClinGen
Ensembl
CA3080615
COSM732592
rs776472995
494 A>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA3080617
rs527742564
496 A>D No ClinGen
1000Genomes
ExAC
CA358242862
rs1578556618
499 A>P No ClinGen
Ensembl
CA3080619
rs540438353
499 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA3080621
rs751172216
502 I>V No ClinGen
ExAC
gnomAD
TCGA novel 503 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080622
rs754743505
503 L>P No ClinGen
ExAC
gnomAD
CA105757333
rs200246899
504 E>Q No ClinGen
Ensembl
CA3080624
rs753159365
505 C>F No ClinGen
ExAC
gnomAD
CA3080625
rs756657017
507 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3080627
rs147051817
509 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358243005
rs1427288904
510 M>L No ClinGen
TOPMed
rs779119714
CA3080629
512 V>A No ClinGen
ExAC
gnomAD
rs770920439
CA358243033
512 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA3080628
rs770920439
512 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA358243062
rs1189234711
514 T>P No ClinGen
gnomAD
CA358243083
rs1421575689
515 Y>D No ClinGen
gnomAD
TCGA novel 516 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1032040669
CA105757363
516 V>I No ClinGen
Ensembl
rs138396564
CA358243120
COSM3428165
518 I>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3080633
rs552224221
519 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358243152
rs769667444
521 E>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 521 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080635
rs773032336
COSM732590
524 Y>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 527 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358243220
rs1271358886
527 A>T No ClinGen
gnomAD
CA358243236
rs1364733484
527 A>V No ClinGen
gnomAD
rs1051884766
CA105757389
529 R>P No ClinGen
TOPMed
CA358243272
rs1213271993
530 S>F No ClinGen
gnomAD
rs765802021
COSM1235935
CA3080637
531 F>L haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA3080638
rs142476647
533 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA105757390
rs142476647
533 Y>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358243338
rs1215856749
536 L>Q No ClinGen
gnomAD
TCGA novel 537 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs568804747
CA3080639
538 D>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA358243384
rs1209476228
COSM1261027
539 F>L oesophagus [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1243870157
CA358243394
540 S>N No ClinGen
gnomAD
CA3080640
rs767317232
541 F>V No ClinGen
ExAC
gnomAD
rs531255597
CA105757395
544 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358243459
rs1414341703
545 A>S No ClinGen
gnomAD
rs1162456535
CA358243472
546 R>L No ClinGen
TOPMed
gnomAD
rs1162456535
CA358243469
546 R>Q No ClinGen
TOPMed
gnomAD
CA358243468
rs1476056957
546 R>W No ClinGen
gnomAD
TCGA novel 547 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080642
rs756563130
COSM364639
548 A>S lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA3080643
rs778277377
549 G>R No ClinGen
ExAC
gnomAD
rs757845067
CA3080645
553 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs757845067
CA358243551
553 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA105757422
rs970893347
557 N>D No ClinGen
Ensembl
CA358243601
rs1270119400
558 A>S No ClinGen
gnomAD
rs745990864
CA3080647
559 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs780274523
CA3080649
563 L>F No ClinGen
ExAC
gnomAD
rs780274523
CA3080650
563 L>I No ClinGen
ExAC
gnomAD
CA3080652
rs773122619
564 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs769577344
CA3080651
564 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1286476969
CA358243668
565 V>L No ClinGen
TOPMed
gnomAD
rs749168390
CA3080653
567 Q>R No ClinGen
ExAC
TCGA novel 570 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759146859
CA3080656
570 N>I No ClinGen
ExAC
gnomAD
rs1488340834
CA358243742
570 N>K No ClinGen
TOPMed
gnomAD
rs773701139
CA3080655
570 N>Y No ClinGen
ExAC
gnomAD
CA3080658
rs547738392
571 A>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3080659
rs547738392
571 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3080657
rs767222986
571 A>S No ClinGen
ExAC
gnomAD
CA358243771
rs764357238
574 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs754282504
CA358243773
CA3080661
575 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA3080662
rs757677020
576 A>E No ClinGen
ExAC
gnomAD
TCGA novel 576 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 576 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358243799
rs1457256291
577 P>L No ClinGen
TOPMed
rs1376626135
CA358243800
578 L>I No ClinGen
gnomAD
rs1376626135
CA358243801
578 L>V No ClinGen
gnomAD
CA105757560
COSM396063
rs918673608
579 P>L lung [Cosmic] No ClinGen
cosmic curated
Ensembl
CA358243820
rs1311495557
580 G>E No ClinGen
gnomAD
rs931421301
CA105757570
581 R>C No ClinGen
TOPMed
gnomAD
CA358243827
rs931421301
581 R>S No ClinGen
TOPMed
gnomAD
rs1281474678
CA358243840
582 N>H No ClinGen
TOPMed
gnomAD
rs1320022157
CA358243847
582 N>S No ClinGen
TOPMed
CA3080666
rs779854709
CA3080667
583 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1223297291
CA358243857
583 G>V No ClinGen
gnomAD
CA3080669
rs777408254
584 T>S No ClinGen
ExAC
CA105757630
rs1048863570
585 P>A No ClinGen
TOPMed
CA358243885
rs1349985856
586 A>G No ClinGen
gnomAD
CA358243897
rs1208608369
587 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA358243923
rs749146027
589 V>L No ClinGen
ExAC
gnomAD
rs749146027
CA3080670
589 V>M No ClinGen
ExAC
gnomAD
CA105757631
rs911251251
591 P>L No ClinGen
Ensembl
rs1341345233
CA358243943
591 P>S No ClinGen
TOPMed
rs771704218
CA3080674
593 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3080673
rs745315343
593 S>P No ClinGen
ExAC
gnomAD
rs1400031919
CA358243975
594 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA3080675
rs371002342
595 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3080676
rs760385009
597 G>S No ClinGen
ExAC
gnomAD
TCGA novel 598 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1578557045
CA358244014
598 Y>S No ClinGen
Ensembl
CA358244050
rs1578557050
601 T>P No ClinGen
Ensembl
CA358244057
rs776824555
602 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs776824555
CA3080678
602 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1334229279
CA358244062
603 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA358244082
rs1458076662
604 A>T No ClinGen
TOPMed
rs1441679157
CA358244086
604 A>V No ClinGen
gnomAD
CA358244108
rs1165360417
606 V>E No ClinGen
gnomAD
CA358244105
rs1373246244
606 V>L No ClinGen
gnomAD
rs1373246244
CA358244107
606 V>M No ClinGen
gnomAD
CA358244132
rs1232072107
COSM1051228
608 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 609 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080680
rs765603032
610 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1279542832
CA358244149
610 D>H No ClinGen
gnomAD
rs750931587
CA3080681
612 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs758967264
CA358244189
614 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs758967264
CA3080682
614 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3080683
rs766429218
614 A>V No ClinGen
ExAC
gnomAD
CA3080687
rs748986507
617 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA3080689
rs778918037
620 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA3080688
rs570988795
620 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358244266
rs1394751102
621 V>L No ClinGen
gnomAD
CA358244286
rs1042240244
623 G>C No ClinGen
Ensembl
CA358244287
rs1326819316
623 G>D No ClinGen
TOPMed
gnomAD
rs1042240244
CA105757702
623 G>S No ClinGen
Ensembl
CA358244347
rs1438812021
627 N>K No ClinGen
gnomAD
CA358244354
rs1302718728
628 L>F No ClinGen
TOPMed
gnomAD
rs1302718728
CA358244350
628 L>I No ClinGen
TOPMed
gnomAD
CA358244359
rs1326977627
628 L>P No ClinGen
gnomAD
rs902262595
CA105757708
629 F>L No ClinGen
gnomAD
rs1268242150
CA358244373
630 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA358244375
rs1268242150
630 R>G No ClinGen
TOPMed
gnomAD
CA358244379
rs1338502775
630 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1268242150
CA358244377
630 R>S No ClinGen
TOPMed
gnomAD
CA3080692
rs779682009
631 M>I No ClinGen
ExAC
gnomAD
CA3080691
rs772188517
631 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1466809825
CA358244418
633 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1578557229
CA358244423
634 R>S No ClinGen
Ensembl
CA358244439
rs1429679034
636 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1195914944
CA358244460
637 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA358244461
rs1371767976
638 L>M No ClinGen
TOPMed
gnomAD
rs1371767976
CA358244463
638 L>V No ClinGen
TOPMed
gnomAD
CA358244471
rs1477708081
639 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1166023689
CA358244473
639 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1397001383
CA358244483
640 T>I No ClinGen
gnomAD
rs776356564
CA105757726
643 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs776356564
CA358244510
643 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA358244511
rs1392271689
643 R>Q No ClinGen
TOPMed
rs1316120049
CA358244533
645 P>L No ClinGen
TOPMed
gnomAD
rs1316120049
CA358244536
645 P>R No ClinGen
TOPMed
gnomAD
CA358244526
rs1383921842
645 P>T No ClinGen
gnomAD
CA3080697
rs576762055
646 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358244563
rs1294853304
647 K>M No ClinGen
gnomAD
CA358244571
rs1332246635
648 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1578557309
CA358244584
649 D>A No ClinGen
Ensembl
CA358244581
rs1232278290
649 D>N No ClinGen
gnomAD
rs773622179
CA3080698
650 P>L No ClinGen
ExAC
gnomAD
CA105757731
rs894829354
651 Q>E No ClinGen
TOPMed
CA3080699
rs535858980
652 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1260269059
CA358244657
655 E>G No ClinGen
gnomAD
CA358244702
rs1189124023
658 I>M No ClinGen
gnomAD
CA358244708
rs1474374606
659 E>A No ClinGen
gnomAD
CA358244706
rs1420451331
659 E>Q No ClinGen
gnomAD
TCGA novel 660 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358244715
rs1364519740
660 V>M No ClinGen
gnomAD
rs1214674963
CA358244727
661 R>G No ClinGen
TOPMed
CA358244757
CA3080702
rs759683647
663 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3080701
rs751598749
663 H>Y No ClinGen
ExAC
gnomAD
CA3080704
rs201588740
669 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA3080705
rs756351452
671 T>A No ClinGen
ExAC
gnomAD
rs778830031
CA3080706
672 A>G No ClinGen
ExAC
gnomAD
rs971007929
CA105757796
672 A>S No ClinGen
gnomAD
rs971007929
CA358244843
672 A>T No ClinGen
gnomAD
rs1318280658
CA358244860
673 T>S No ClinGen
gnomAD
CA358244875
rs1274715490
675 V>L No ClinGen
TOPMed
CA358244884
rs1353683899
676 V>L No ClinGen
gnomAD
rs1181583289
CA358244922
680 D>H No ClinGen
gnomAD
rs1398979989
CA358244929
680 D>V No ClinGen
TOPMed
CA358244923
rs1181583289
680 D>Y No ClinGen
gnomAD
CA358244932
rs1251519345
681 G>S No ClinGen
gnomAD
CA358244960
rs1157037096
683 V>E No ClinGen
gnomAD
CA3080711
rs768213295
685 P>S No ClinGen
ExAC
gnomAD
rs747820083
CA3080713
687 G>D No ClinGen
ExAC
gnomAD
rs769482284
CA3080714
689 G>D No ClinGen
ExAC
gnomAD
COSM1539402
rs1379416486
CA358245035
690 G>R lung [Cosmic] No ClinGen
cosmic curated
TOPMed
TCGA novel 692 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358245066
rs771377776
693 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3080717
rs771377776
693 G>S No ClinGen
ExAC
gnomAD
rs141560250
CA105757846
COSM341378
694 G>R lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
NCI-TCGA
gnomAD
CA3080718
rs373261582
696 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3080720
rs374974622
697 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374974622
CA358245105
697 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs893903617
CA105757864
701 R>C No ClinGen
TOPMed
rs760923054
CA3080722
702 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs768279401
CA3080723
702 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs768279401
CA3080724
702 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs760923054
CA105757872
702 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs758285629
CA3080725
703 S>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA358245184
rs1578557626
704 R>H No ClinGen
Ensembl
TCGA novel 705 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080726
rs780066239
705 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs1020969139
CA105757894
706 G>D No ClinGen
TOPMed
rs780727916
CA105757899
707 G>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 707 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080729
rs780727916
707 G>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
CA105757900
rs942727116
708 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD
CA3080730
rs747650002
708 G>V No ClinGen
ExAC
gnomAD
TCGA novel 710 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358245243
rs1445387096
710 T>S No ClinGen
TOPMed
CA358245267
rs1416080817
713 D>G No ClinGen
TOPMed
CA3080733
rs541195748
713 D>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1330257464
CA358245276
714 L>F No ClinGen
TOPMed
gnomAD
rs1578557698
CA358245279
714 L>P No ClinGen
Ensembl
CA358245288
rs1394697875
715 T>N No ClinGen
gnomAD
rs771281433
CA3080734
716 L>F No ClinGen
ExAC
gnomAD
rs746365225
CA358245311
718 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3080736
rs746365225
718 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA358245324
rs1578557724
719 I>M No ClinGen
Ensembl
COSM1051233
CA358245337
rs1560703933
721 A>T large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs150908556
CA3080738
722 L>F No ClinGen
ESP
ExAC
gnomAD
rs764358453
CA3080740
725 V>M No ClinGen
ExAC
gnomAD
CA3080741
rs777001535
727 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA3080742
rs762190073
727 F>S No ClinGen
ExAC
gnomAD
CA105758018
rs933274985
730 L>V No ClinGen
Ensembl
rs1042190631
CA105758020
732 A>S No ClinGen
Ensembl
CA358245450
rs1251194016
732 A>V No ClinGen
TOPMed
gnomAD
rs115235793
CA3080743
733 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs751358007
CA3080744
735 V>L No ClinGen
ExAC
gnomAD
rs200093699
CA105758029
737 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs767385531
CA3080746
COSM1427102
738 V>A large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA358245506
COSM120988
rs1169617488
738 V>L upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA358245529
rs1462645149
740 C>Y No ClinGen
gnomAD
rs936395212
CA105758046
741 Q>R No ClinGen
Ensembl
CA3080747
rs752199952
742 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755634208
CA3080748
743 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs199885169
CA3080749
744 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1172348527
CA358245589
745 K>Q No ClinGen
gnomAD
CA105758100
rs894763394
746 L>F No ClinGen
Ensembl
CA3080751
rs756952632
747 N>T No ClinGen
ExAC
CA3080753
rs746251600
749 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA358245656
rs1400737616
750 T>S No ClinGen
TOPMed
gnomAD
rs562447863
CA3080754
751 C>F No ClinGen
1000Genomes
ExAC
gnomAD
rs562447863
CA3080755
751 C>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1464822930
CA358245677
753 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1451099614
CA358245698
754 S>R No ClinGen
gnomAD
rs1466102238
CA358245719
756 C>F No ClinGen
TOPMed
rs776905297
CA3080758
757 C>S No ClinGen
ExAC
gnomAD
rs762102302
CA3080759
758 L>F No ClinGen
ExAC
gnomAD
rs963102711
CA105758144
758 L>P No ClinGen
TOPMed
CA358245758
rs1403798290
759 C>W No ClinGen
TOPMed
CA3080762
rs774154332
763 C>F No ClinGen
ExAC
gnomAD
CA358245801
rs1476003947
763 C>S No ClinGen
gnomAD
TCGA novel 763 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371050521
CA3080763
COSM1539399
764 G>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
CA3080764
rs767430272
764 G>D No ClinGen
ExAC
gnomAD
CA105758163
rs1025792156
767 G>C No ClinGen
TOPMed
gnomAD
TCGA novel 767 G>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA105758169
rs918916878
767 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 768 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1398671207
CA358245856
769 T>P No ClinGen
gnomAD
CA3080767
rs763572989
770 C>R No ClinGen
ExAC
gnomAD
rs1458636323
CA358245892
773 R>S No ClinGen
TOPMed
CA3080770
rs756864647
775 A>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA358245908
rs756864647
775 A>G No ClinGen
ExAC
gnomAD
rs370169315
CA105758187
775 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA3080769
rs756864647
775 A>V No ClinGen
ExAC
gnomAD
CA105758206
rs987665826
776 R>Q No ClinGen
TOPMed
gnomAD
rs750744037
CA3080771
777 A>E No ClinGen
ExAC
gnomAD
rs758699020
CA3080772
778 R>C No ClinGen
ExAC
gnomAD
rs758699020
CA358245919
778 R>G No ClinGen
ExAC
gnomAD
rs780537925
CA3080773
778 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs747501264
CA3080774
779 K>R No ClinGen
ExAC
gnomAD
CA105758228
rs773039592
781 K>E No ClinGen
Ensembl
rs1486521943
CA358245946
782 L>F No ClinGen
TOPMed
gnomAD
rs1486521943
CA358245944
782 L>I No ClinGen
TOPMed
gnomAD
CA358245953
rs1320741791
783 S>N No ClinGen
TOPMed
rs1290065388
CA358245977
786 D>G No ClinGen
TOPMed
rs1229691945
CA358245991
788 M>T No ClinGen
TOPMed
rs1578558068
CA358246002
790 V>M No ClinGen
Ensembl
rs770008835
CA3080778
791 Q>R No ClinGen
ExAC
gnomAD
CA358246022
rs1308306934
793 S>P No ClinGen
TOPMed
CA358246029
rs1438536521
794 N>D No ClinGen
Ensembl
rs762547759
CA3080779
794 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA358246035
rs1436980071
795 V>I No ClinGen
gnomAD
TCGA novel 796 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771758472
CA3080781
799 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs765969812
CA3080782
799 P>L No ClinGen
ExAC
gnomAD
CA358246071
rs764050915
800 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA3080784
rs764050915
800 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs375359012
CA3080785
801 Q>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3080786
rs375359012
801 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3080787
rs764880815
802 V>G No ClinGen
ExAC
gnomAD
CA358246080
rs1239405155
802 V>L No ClinGen
TOPMed
gnomAD
rs1239405155
CA358246078
802 V>M No ClinGen
TOPMed
gnomAD
CA105758334
rs915272132
803 P>R No ClinGen
TOPMed
TCGA novel 803 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080789
rs373196596
804 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs115671631
CA3080788
RCV000954629
804 I>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA358246097
rs1277592865
805 E>G No ClinGen
gnomAD
TCGA novel 806 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 806 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080792
rs755500180
808 G>A No ClinGen
ExAC
gnomAD
rs752009901
CA3080791
CA105758393
808 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 809 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200052528
CA3080794
809 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3080795
rs201812366
810 F>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 811 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080796
rs777975237
811 G>S No ClinGen
ExAC
gnomAD
rs749449451
CA3080798
812 S>F No ClinGen
ExAC
gnomAD
rs749449451
CA3080797
812 S>Y No ClinGen
ExAC
gnomAD
CA105758404
rs1057414978
815 H>D No ClinGen
TOPMed
gnomAD
CA358246160
rs1331112201
815 H>Q No ClinGen
gnomAD
CA3080799
COSM322494
rs775227729
815 H>R lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA3080800
rs199658438
COSM1328681
816 N>S ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs201300041
CA3080801
817 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA358246190
rs200214817
819 Y>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3080803
rs761880577
820 C>R No ClinGen
ExAC
gnomAD
TCGA novel 821 Y>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358246215
rs1355586905
823 V>L No ClinGen
TOPMed
CA358246238
rs1578558231
826 T>I No ClinGen
Ensembl
rs762478061
CA3080806
827 P>S No ClinGen
ExAC
gnomAD
CA358246251
rs1457013511
828 E>D No ClinGen
gnomAD
rs766157310
CA3080807
830 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1254312943
CA358246266
831 K>R No ClinGen
gnomAD
TCGA novel 833 D>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 834 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA105758441
rs1054066450
835 M>L No ClinGen
gnomAD
CA105758447
rs764322733
835 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 837 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 839 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1377474442
CA358246328
840 C>Y No ClinGen
gnomAD
CA358246338
rs1475951787
841 S>N No ClinGen
gnomAD
rs754220543
CA105758453
843 S>L No ClinGen
gnomAD
CA3080809
rs755404882
844 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1396785105
CA358246361
845 S>I No ClinGen
gnomAD
rs768068046
CA3080810
846 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs373486684
CA105758464
847 D>A No ClinGen
Ensembl
CA3080811
rs753139406
848 T>A No ClinGen
ExAC
CA3080812
rs756701340
848 T>N No ClinGen
ExAC
gnomAD
TCGA novel 848 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358246389
rs757663766
850 H>N No ClinGen
gnomAD
rs749418183
CA3080814
850 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
COSM732581
CA105758502
rs757663766
850 H>Y lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs947823975
CA105758507
851 N>K No ClinGen
TOPMed
gnomAD
rs1578558353
CA358246397
851 N>T No ClinGen
Ensembl
rs757374053
CA3080815
853 C>W No ClinGen
ExAC
gnomAD
rs779122845
CA3080816
COSM366837
854 G>R lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs779122845
CA358246414
854 G>W No ClinGen
ExAC
gnomAD
rs1208665551
CA358246419
855 A>T No ClinGen
gnomAD
CA358246431
rs1188174071
856 I>M No ClinGen
gnomAD
TCGA novel 857 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080817
rs746741861
858 T>S No ClinGen
ExAC
gnomAD
rs776473022
CA3080819
859 G>C No ClinGen
ExAC
gnomAD
rs776473022
CA358246443
859 G>S No ClinGen
ExAC
gnomAD
COSM3392701
CA358246452
rs1578558411
860 Y>C pancreas [Cosmic] No ClinGen
cosmic curated
Ensembl
CA3080820
rs202150629
861 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA358246463
rs1370359884
862 D>A No ClinGen
gnomAD
CA358246467
rs1456461281
862 D>E No ClinGen
TOPMed
gnomAD
CA3080821
COSM1427105
rs769806730
862 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs769806730
CA358246462
862 D>Y No ClinGen
ExAC
gnomAD
CA3080822
rs772554344
863 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA358246472
rs772554344
863 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA3080824
rs766069390
867 I>T No ClinGen
ExAC
gnomAD
CA3080823
rs762544471
867 I>V No ClinGen
ExAC
gnomAD
CA358246502
rs1578558470
868 I>V No ClinGen
Ensembl
CA358246520
rs1578558475
870 N>S No ClinGen
Ensembl
CA358246539
rs1339585906
873 I>F No ClinGen
TOPMed
gnomAD
CA358246538
rs1339585906
873 I>V No ClinGen
TOPMed
gnomAD
rs759327780
CA358246562
876 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA3080825
rs139192984
876 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767979993
COSM1695012
CA3080827
877 E>K skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA3080853
rs758575058
878 T>A No ClinGen
ExAC
gnomAD
rs780341723
CA3080854
880 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA358246805
rs752374821
882 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs752374821
CA3080855
882 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1468891376
CA358246808
883 A>T No ClinGen
gnomAD
rs374554617
CA3080858
885 L>I No ClinGen
ESP
ExAC
CA3080860
rs778527294
887 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA3080859
rs771039986
COSM1633449
887 Y>H liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA358246887
rs1463716573
890 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs752486717
CA105759846
892 P>R No ClinGen
Ensembl
rs1330146478
CA358246913
892 P>S No ClinGen
TOPMed
gnomAD
rs1330146478
CA358246912
892 P>T No ClinGen
TOPMed
gnomAD
CA3080861
rs374613437
893 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs771793990
CA3080862
893 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs551508926
CA3080863
894 R>* No ClinGen
1000Genomes
ExAC
gnomAD
CA3080864
rs531296768
894 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 895 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358246934
rs1347193376
895 V>I No ClinGen
TOPMed
rs1230124453
CA358247013
897 S>R No ClinGen
gnomAD
rs375593369
CA3080881
901 Q>H No ClinGen
ESP
ExAC
TOPMed
CA3080882
rs746647405
904 D>E No ClinGen
ExAC
gnomAD
COSM1261029
CA358247086
rs1321093154
904 D>N Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA3080883
rs768230100
906 V>L No ClinGen
ExAC
TCGA novel 915 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs547201793
CA105760326
917 E>D No ClinGen
gnomAD
rs898340276
CA105760327
919 G>R No ClinGen
Ensembl
rs770231032
CA358247307
922 D>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 925 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777714741
CA105760332
928 R>C No ClinGen
TOPMed
gnomAD
CA3080888
rs368210175
928 R>H No ClinGen
ESP
ExAC
gnomAD
rs766470755
CA3080889
929 A>V No ClinGen
ExAC
gnomAD
rs1159767023
CA358247388
930 Q>R No ClinGen
TOPMed
gnomAD
CA3080891
rs759773332
931 S>A No ClinGen
ExAC
gnomAD
rs767655474
CA3080892
932 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1178558699
CA358248405
935 D>G No ClinGen
gnomAD
TCGA novel 936 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1378663932
CA358248413
936 L>V No ClinGen
gnomAD
CA358248440
rs1171148958
938 S>F No ClinGen
gnomAD
rs1560707811
CA358248447
939 N>S No ClinGen
Ensembl
TCGA novel 946 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1172954484
CA358248567
949 H>Q No ClinGen
gnomAD
CA3080921
rs144017898
952 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199735732
CA105766951
952 R>P No ClinGen
1000Genomes
COSM3392702
rs144017898
CA3080922
952 R>W pancreas [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763670241
CA105766953
956 P>T No ClinGen
gnomAD
CA358248654
rs1560707846
958 F>I No ClinGen
Ensembl
CA358248663
rs1244142127
958 F>L No ClinGen
TOPMed
TCGA novel 959 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA105766960
rs1057322360
960 P>L No ClinGen
Ensembl
rs1316226670
CA358248679
960 P>S No ClinGen
TOPMed
CA358248712
rs1318202748
COSM1539397
963 G>A lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs376447518
CA3080924
964 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs142202092
CA358248719
964 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3080925
rs142202092
964 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 966 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369971010
CA3080927
966 A>V No ClinGen
ESP
ExAC
gnomAD
CA105766965
rs866022420
COSM1427108
967 A>V large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA3080928
rs746452904
969 Y>C No ClinGen
ExAC
gnomAD
rs772263978
COSM1051238
CA3080929
970 R>C Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
CA3080930
COSM3010546
rs571561006
970 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA105766967
rs754484154
971 S>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1226161097
CA358248805
972 N>S No ClinGen
Ensembl
CA105766969
rs978906607
973 L>M No ClinGen
TOPMed
CA3080932
rs769027797
976 P>L No ClinGen
ExAC
gnomAD
rs773006239
CA3080933
977 G>R No ClinGen
ExAC
gnomAD
rs866930368
CA105766978
978 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA358248872
rs766277050
979 D>N No ClinGen
ExAC
gnomAD
CA3080935
rs766277050
979 D>Y No ClinGen
ExAC
gnomAD
rs556665327
CA105766983
982 P>Q No ClinGen
1000Genomes
rs751450197
CA3080937
984 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA3080936
rs751450197
984 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA358248931
rs1401558082
985 E>K No ClinGen
gnomAD
rs752245361
CA3080939
986 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1417016024
CA358248942
986 V>M No ClinGen
TOPMed
rs755724238
CA3080940
987 F>C No ClinGen
ExAC
rs956092581
CA105766996
989 T>S No ClinGen
TOPMed
rs1254120609
CA358248978
990 P>A No ClinGen
TOPMed
rs777426195
CA3080941
992 A>S No ClinGen
ExAC
gnomAD
rs754164189
CA3080942
992 A>V No ClinGen
ExAC
gnomAD
rs779390646
CA3080944
993 Q>H No ClinGen
ExAC
gnomAD
rs746337410
CA3080945
994 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1291584476
CA358249021
994 P>R No ClinGen
gnomAD
CA358249019
rs746337410
994 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1488830220
CA358249039
996 A>E No ClinGen
gnomAD
CA358249037
rs1343075994
996 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA3080950
rs140421804
998 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3080949
COSM291598
rs747104577
998 R>W Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 1001 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1315569155
CA358249099
1002 T>A No ClinGen
TOPMed
TCGA novel 1004 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3080952
rs770621634
1004 G>D No ClinGen
ExAC
gnomAD
TCGA novel 1005 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1578563836
CA358249142
1006 E>Q No ClinGen
Ensembl
TCGA novel 1007 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1618388
CA3080954
rs759439564
1008 A>T Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358249179
rs1421317231
1009 L>V No ClinGen
gnomAD
CA3080958
rs760181712
1014 E>G No ClinGen
ExAC
gnomAD
rs375623041
CA3080959
1015 R>T No ClinGen
ESP
ExAC
gnomAD
rs756981553
CA3080961
1016 K>R No ClinGen
ExAC
gnomAD
rs1365814588
CA358249269
1018 L>M No ClinGen
TOPMed
CA3080964
rs750827718
1019 D>E No ClinGen
ExAC
gnomAD
CA105767037
rs759007811
1019 D>G No ClinGen
Ensembl
rs1284283228
CA358249328
1024 N>S No ClinGen
gnomAD
rs747022854
CA3080966
COSM283740
1025 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3080967
rs755108245
1026 R>G No ClinGen
ExAC
gnomAD
CA358249347
rs545224779
1026 R>P No ClinGen
gnomAD
rs545224779
CA105767047
1026 R>Q No ClinGen
gnomAD
CA105767056
CA3080969
rs80095523
1029 Y>* No ClinGen
ESP
ExAC
rs1441438979
CA358249373
1029 Y>C No ClinGen
TOPMed
gnomAD
rs781393726
CA3080968
1029 Y>D No ClinGen
ExAC
gnomAD
TCGA novel 1029 Y>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358249390
rs1156660758
1030 K>N No ClinGen
TOPMed
gnomAD
rs1197844898
CA358249385
1030 K>R No ClinGen
TOPMed
gnomAD
rs770096840
CA3080970
1031 P>S No ClinGen
ExAC
gnomAD
CA358249406
rs1466286796
1032 P>L No ClinGen
gnomAD
CA358249419
rs1480110815
1033 Y>C No ClinGen
TOPMed
CA358249434
rs1394979289
1034 L>F No ClinGen
gnomAD
CA358250536
rs1299134079
1036 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1424464634
COSM204417
CA358250535
1036 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA358250549
rs1362746720
1038 R>K No ClinGen
gnomAD
CA358250551
rs1362746720
1038 R>M No ClinGen
gnomAD
rs1428852614
CA358250560
1039 I>M No ClinGen
gnomAD
rs764726768
CA3080997
1040 C>R No ClinGen
ExAC
gnomAD
rs1379999029
CA358250564
1040 C>S No ClinGen
TOPMed
gnomAD

No associated diseases with Q9P2E7

12 regional properties for Q9P2E7

Type Name Position InterPro Accession
domain Cadherin-like 34 - 122 IPR002126-1
domain Cadherin-like 123 - 250 IPR002126-2
domain Cadherin-like 250 - 358 IPR002126-3
domain Cadherin-like 359 - 474 IPR002126-4
domain Cadherin-like 464 - 574 IPR002126-5
domain Cadherin-like 590 - 686 IPR002126-6
domain Cadherin, N-terminal 19 - 101 IPR013164
conserved_site Cadherin conserved site 110 - 120 IPR020894-1
conserved_site Cadherin conserved site 238 - 248 IPR020894-2
conserved_site Cadherin conserved site 451 - 461 IPR020894-3
conserved_site Cadherin conserved site 562 - 572 IPR020894-4
domain Cadherin, cytoplasmic C-terminal domain 713 - 838 IPR032455

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

1 GO annotations of molecular function

Name Definition
calcium ion binding Binding to a calcium ion (Ca2+).

3 GO annotations of biological process

Name Definition
cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
homophilic cell adhesion via plasma membrane adhesion molecules The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell.
nervous system development The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.

45 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q3SWX5 CDH6 Cadherin-6 Bos taurus (Bovine) PR
P79995 CDH10 Cadherin-10 Gallus gallus (Chicken) PR
Q8UVJ7 CDHR1 Cadherin-related family member 1 Gallus gallus (Chicken) PR
Q5DRC8 PCDHB6 Protocadherin beta-6 Pan troglodytes (Chimpanzee) PR
Q5DRE4 PCDHA8 Protocadherin alpha-8 Pan troglodytes (Chimpanzee) PR
Q5DRE6 PCDHA6 Protocadherin alpha-6 Pan troglodytes (Chimpanzee) PR
Q5DRF0 PCDHA2 Protocadherin alpha-2 Pan troglodytes (Chimpanzee) PR
Q5DRE7 PCDHA5 Protocadherin alpha-5 Pan troglodytes (Chimpanzee) PR
Q9VJB6 CadN2 Putative neural-cadherin 2 Drosophila melanogaster (Fruit fly) PR
Q9ULB4 CDH9 Cadherin-9 Homo sapiens (Human) PR
P12830 CDH1 Cadherin-1 Homo sapiens (Human) PR
Q9H159 CDH19 Cadherin-19 Homo sapiens (Human) PR
Q9Y6N8 CDH10 Cadherin-10 Homo sapiens (Human) PR
P55285 CDH6 Cadherin-6 Homo sapiens (Human) PR
P19022 CDH2 Cadherin-2 Homo sapiens (Human) PR
Q6ZTQ4 CDHR3 Cadherin-related family member 3 Homo sapiens (Human) PR
Q9BZA8 PCDH11Y Protocadherin-11 Y-linked Homo sapiens (Human) PR
Q08174 PCDH1 Protocadherin-1 Homo sapiens (Human) PR
Q9HC56 PCDH9 Protocadherin-9 Homo sapiens (Human) PR
Q9Y5H8 PCDHA3 Protocadherin alpha-3 Homo sapiens (Human) PR
Q9UN75 PCDHA12 Protocadherin alpha-12 Homo sapiens (Human) PR
Q9Y5I2 PCDHA10 Protocadherin alpha-10 Homo sapiens (Human) PR
Q9UN72 PCDHA7 Protocadherin alpha-7 Homo sapiens (Human) PR
Q9UN74 PCDHA4 Protocadherin alpha-4 Homo sapiens (Human) PR
Q9Y5I1 PCDHA11 Protocadherin alpha-11 Homo sapiens (Human) PR
Q9Y5H7 PCDHA5 Protocadherin alpha-5 Homo sapiens (Human) PR
Q9UN73 PCDHA6 Protocadherin alpha-6 Homo sapiens (Human) PR
Q9Y5H6 PCDHA8 Protocadherin alpha-8 Homo sapiens (Human) PR
Q9Y5I3 PCDHA1 Protocadherin alpha-1 Homo sapiens (Human) PR
Q9Y5H9 PCDHA2 Protocadherin alpha-2 Homo sapiens (Human) PR
Q9Y5H3 PCDHGA10 Protocadherin gamma-A10 Homo sapiens (Human) PR
O60330 PCDHGA12 Protocadherin gamma-A12 Homo sapiens (Human) PR
Q9Y5G4 PCDHGA9 Protocadherin gamma-A9 Homo sapiens (Human) PR
Q9Y5G0 PCDHGB5 Protocadherin gamma-B5 Homo sapiens (Human) PR
Q9Y5E3 PCDHB6 Protocadherin beta-6 Homo sapiens (Human) PR
Q9Y5F1 PCDHB12 Protocadherin beta-12 Homo sapiens (Human) PR
P09803 Cdh1 Cadherin-1 Mus musculus (Mouse) PR
P15116 Cdh2 Cadherin-2 Mus musculus (Mouse) PR
P70407 Cdh9 Cadherin-9 Mus musculus (Mouse) PR
P97326 Cdh6 Cadherin-6 Mus musculus (Mouse) PR
P70408 Cdh10 Cadherin-10 Mus musculus (Mouse) PR
Q8VHF2 Cdhr5 Cadherin-related family member 5 Mus musculus (Mouse) PR
P55280 Cdh6 Cadherin-6 Rattus norvegicus (Rat) PR
Q9Z1Y3 Cdh2 Cadherin-2 Rattus norvegicus (Rat) PR
Q767I8 Pcdha4 Protocadherin alpha-4 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MIVLLLFALL WMVEGVFSQL HYTVQEEQEH GTFVGNIAED LGLDITKLSA RGFQTVPNSR
70 80 90 100 110 120
TPYLDLNLET GVLYVNEKID REQICKQSPS CVLHLEVFLE NPLELFQVEI EVLDINDNPP
130 140 150 160 170 180
SFPEPDLTVE ISESATPGTR FPLESAFDPD VGTNSLRDYE ITPNSYFSLD VQTQGDGNRF
190 200 210 220 230 240
AELVLEKPLD REQQAVHRYV LTAVDGGGGG GVGEGGGGGG GAGLPPQQQR TGTALLTIRV
250 260 270 280 290 300
LDSNDNVPAF DQPVYTVSLP ENSPPGTLVI QLNATDPDEG QNGEVVYSFS SHISPRAREL
310 320 330 340 350 360
FGLSPRTGRL EVSGELDYEE SPVYQVYVQA KDLGPNAVPA HCKVLVRVLD ANDNAPEISF
370 380 390 400 410 420
STVKEAVSEG AAPGTVVALF SVTDRDSEEN GQVQCELLGD VPFRLKSSFK NYYTIVTEAP
430 440 450 460 470 480
LDREAGDSYT LTVVARDRGE PALSTSKSIQ VQVSDVNDNA PRFSQPVYDV YVTENNVPGA
490 500 510 520 530 540
YIYAVSATDR DEGANAQLAY SILECQIQGM SVFTYVSINS ENGYLYALRS FDYEQLKDFS
550 560 570 580 590 600
FQVEARDAGS PQALAGNATV NILIVDQNDN APAIVAPLPG RNGTPAREVL PRSAEPGYLL
610 620 630 640 650 660
TRVAAVDADD GENARLTYSI VRGNEMNLFR MDWRTGELRT ARRVPAKRDP QRPYELVIEV
670 680 690 700 710 720
RDHGQPPLSS TATLVVQLVD GAVEPQGGGG SGGGGSGEHQ RPSRSGGGET SLDLTLILII
730 740 750 760 770 780
ALGSVSFIFL LAMIVLAVRC QKEKKLNIYT CLASDCCLCC CCCGGGGSTC CGRQARARKK
790 800 810 820 830 840
KLSKSDIMLV QSSNVPSNPA QVPIEESGGF GSHHHNQNYC YQVCLTPESA KTDLMFLKPC
850 860 870 880 890 900
SPSRSTDTEH NPCGAIVTGY TDQQPDIISN GSILSNETKH QRAELSYLVD RPRRVNSSAF
910 920 930 940 950 960
QEADIVSSKD SGHGDSEQGD SDHDATNRAQ SAGMDLFSNC TEECKALGHS DRCWMPSFVP
970 980 990 1000 1010 1020
SDGRQAADYR SNLHVPGMDS VPDTEVFETP EAQPGAERSF STFGKEKALH STLERKELDG
1030
LLTNTRAPYK PPYLTRKRIC