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

168-187 (Activation loop from InterPro)

Target domain

28-281 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

1 structures for Q9UL54

Entry ID Method Resolution Chain Position Source
AF-Q9UL54-F1 Predicted AlphaFoldDB

890 variants for Q9UL54

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000953357
RCV002298806
rs368747234
392 E>missing Hepatocellular carcinoma [ClinVar] Yes ClinVar
dbSNP
rs1256997964
CA395469480
4 G>R No ClinGen
TOPMed
rs755199294
CA7997692
5 G>V No ClinGen
ExAC
gnomAD
CA395469490
rs1242272222
6 R>Q No ClinGen
TOPMed
gnomAD
CA7997693
rs146116179
6 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7997695
rs755972701
8 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1354458295
CA395469507
9 S>I No ClinGen
TOPMed
rs748733191
CA7997697
9 S>R No ClinGen
ExAC
gnomAD
rs1432429783
CA395469537
13 P>L No ClinGen
TOPMed
rs1432429783
CA395469536
13 P>R No ClinGen
TOPMed
rs1347355481
CA395469538
14 D>N No ClinGen
TOPMed
TCGA novel 15 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 19 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7997701
rs771869853
21 K>R No ClinGen
ExAC
gnomAD
CA395469631
rs762280762
26 K>N No ClinGen
ExAC
TOPMed
rs777116231
CA7997702
26 K>R No ClinGen
ExAC
gnomAD
CA7997704
rs765662810
27 L>P No ClinGen
ExAC
gnomAD
CA395469653
rs1596595527
30 D>A No ClinGen
Ensembl
CA7997707
rs766380067
30 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA395469665
rs1376172296
32 R>Q No ClinGen
gnomAD
CA7997708
rs751670508
32 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755146133
CA280430378
33 E>K No ClinGen
ExAC
gnomAD
rs755146133
CA7997709
33 E>Q No ClinGen
ExAC
gnomAD
rs767764424
CA7997710
36 H>R No ClinGen
ExAC
gnomAD
rs1206406398
CA395469728
42 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1306051542
CA395469775
47 D>N No ClinGen
TOPMed
rs1005177502
CA280430605
48 V>I No ClinGen
Ensembl
rs752906788
CA7997729
49 R>Q No ClinGen
ExAC
gnomAD
CA395469801
rs1272747555
49 R>W No ClinGen
gnomAD
rs763906149
CA7997731
50 N>S No ClinGen
ExAC
gnomAD
CA395469812
rs1596596040
50 N>Y No ClinGen
Ensembl
CA7997734
rs779036453
66 S>P No ClinGen
ExAC
gnomAD
rs966469217
CA280430638
67 N>S No ClinGen
TOPMed
gnomAD
CA7997749
rs764269417
72 D>N No ClinGen
ExAC
gnomAD
CA7997750
rs753635436
77 V>L No ClinGen
ExAC
gnomAD
rs761769256
CA7997751
78 R>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 78 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1374212447
CA395470216
78 R>W No ClinGen
TOPMed
CA7997752
rs765255700
81 Q>R No ClinGen
ExAC
gnomAD
rs750331994
CA7997753
82 K>M No ClinGen
ExAC
gnomAD
CA7997755
rs150712108
84 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA395470419
rs1313275626
88 T>I No ClinGen
TOPMed
TCGA novel 92 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs865791050
CA280430875
92 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7997757
rs754637836
92 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7997760
rs757559465
97 R>K No ClinGen
ExAC
gnomAD
rs1201123116
CA395470591
100 T>R No ClinGen
gnomAD
CA395470859
rs1283979500
109 L>V No ClinGen
TOPMed
gnomAD
CA395471807
rs1390324284
123 L>F No ClinGen
gnomAD
TCGA novel 124 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7997802
rs781376740
131 V>L No ClinGen
ExAC
gnomAD
CA395471879
rs1436970368
134 G>R No ClinGen
gnomAD
TCGA novel 140 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395471960
rs774229445
146 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA7997808
rs774229445
146 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs1437221463
CA395472048
156 N>K No ClinGen
TOPMed
rs1349545690
CA395472056
157 I>M No ClinGen
TOPMed
CA280431467
rs919570391
165 V>A No ClinGen
Ensembl
rs939417987
CA280431477
175 I>N No ClinGen
TOPMed
rs768089730
CA7997831
175 I>V No ClinGen
ExAC
gnomAD
rs1181246589
CA395472172
176 M>K No ClinGen
gnomAD
CA7997832
rs776236834
177 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1473460766
CA395472185
178 P>S No ClinGen
gnomAD
rs140117945
CA7997833
180 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM969704
COSM969705
CA7997857
rs767951266
192 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1596598662
CA395472338
193 V>G No ClinGen
Ensembl
rs1377682145
CA395472446
203 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7997861
rs753857036
206 V>A No ClinGen
ExAC
gnomAD
rs375334553
CA7997863
208 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1247516476
CA395472664
215 C>Y No ClinGen
gnomAD
rs1189534622
CA395472700
COSM969707
COSM969708
217 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA7997908
rs756769478
221 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7997907
rs753383907
221 R>W No ClinGen
ExAC
gnomAD
rs778568429
CA7997909
222 K>Q No ClinGen
ExAC
gnomAD
CA395473784
rs1460827015
222 K>T No ClinGen
gnomAD
rs865824525
CA280433365
224 P>S No ClinGen
Ensembl
rs745492252
CA7997910
225 L>H No ClinGen
ExAC
gnomAD
TCGA novel 228 M>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7997912
rs781600192
COSM170218
230 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773769604
CA7997915
235 Y>H No ClinGen
ExAC
gnomAD
CA395474119
rs1306743411
241 E>D No ClinGen
Ensembl
rs143934788
CA7997917
243 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1313958114
CA395474152
244 V>M No ClinGen
TOPMed
gnomAD
CA395474210
rs1204412027
247 S>P No ClinGen
TOPMed
CA395474227
rs1234073466
248 G>R No ClinGen
TOPMed
gnomAD
CA7997920
rs767669894
249 H>R No ClinGen
ExAC
gnomAD
rs778066032
CA7997951
COSM184905
255 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1168058728
CA395474499
258 V>I No ClinGen
gnomAD
rs142801026
CA7997954
259 D>E No ClinGen
ESP
ExAC
gnomAD
CA395474515
rs1458583458
259 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7997956
rs373914698
260 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373914698
CA7997955
260 S>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA280433645
rs200074622
263 Q>E No ClinGen
Ensembl
CA395474641
rs1158759155
265 I>F No ClinGen
TOPMed
TCGA novel 267 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395474677
rs1298907781
267 Q>R No ClinGen
gnomAD
rs1167389928
CA395474694
268 D>G No ClinGen
TOPMed
gnomAD
CA280433680
rs970485759
271 T>A No ClinGen
TOPMed
gnomAD
TCGA novel 271 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA280433692
rs151026108
274 V>A No ClinGen
ESP
TOPMed
CA395474768
rs1188512114
274 V>I No ClinGen
TOPMed
rs1480951180
CA395474969
278 H>Q No ClinGen
TOPMed
TCGA novel 278 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754043273
CA7997976
279 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM393101
rs747127087
COSM393100
CA7997977
279 R>H lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA280434389
rs903892697
281 V>L No ClinGen
Ensembl
rs1000878010
CA280434397
283 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA7997978
rs141012429
283 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA395475078
rs1473676019
285 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA280434431
rs569219357
285 R>W No ClinGen
1000Genomes
ExAC
gnomAD
CA395475097
rs1273714728
287 P>T No ClinGen
TOPMed
CA7997980
rs748396259
288 T>A No ClinGen
ExAC
gnomAD
rs149797802
CA395475140
290 I>L No ClinGen
ESP
TOPMed
gnomAD
rs149797802
CA280434440
290 I>V No ClinGen
ESP
TOPMed
gnomAD
CA395475277
rs1316246258
297 T>I No ClinGen
TOPMed
TCGA novel 298 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395475294
rs1414787531
299 D>N No ClinGen
gnomAD
rs1414787531
CA395475296
299 D>Y No ClinGen
gnomAD
CA7997984
rs770953476
301 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs773843358
CA7997985
303 E>D No ClinGen
ExAC
gnomAD
rs773124521
CA280434462
310 R>C No ClinGen
gnomAD
rs773124521
CA395475456
310 R>G No ClinGen
gnomAD
CA395475469
rs1567242800
310 R>L No ClinGen
Ensembl
rs760462943
CA280434463
314 K>T No ClinGen
Ensembl
CA395475590
rs898929706
317 F>L No ClinGen
TOPMed
gnomAD
CA395475683
rs575152450
323 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA7997987
rs575152450
323 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA7997988
rs752276045
324 P>L No ClinGen
ExAC
gnomAD
CA395475700
rs1273066702
324 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1483933331
CA395475720
325 G>A No ClinGen
gnomAD
rs1013425351
CA280434505
327 E>K No ClinGen
gnomAD
CA395475799
rs1288155236
330 E>A No ClinGen
gnomAD
rs1232539311
CA395475847
333 E>G No ClinGen
gnomAD
TCGA novel 334 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745755045
CA7998022
335 A>S No ClinGen
ExAC
gnomAD
CA7998023
rs772044091
335 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7998025
rs368342001
337 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368342001
CA280394534
337 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1451485192
CA395479153
338 Y>C No ClinGen
TOPMed
CA7998027
rs776291776
339 M>R No ClinGen
ExAC
gnomAD
CA7998026
rs371958190
339 M>V No ClinGen
ESP
ExAC
gnomAD
CA7998028
rs761378241
340 H>Y No ClinGen
ExAC
gnomAD
rs892541929
CA395479205
341 R>G No ClinGen
gnomAD
CA7998029
rs766814244
341 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA280394553
rs892541929
341 R>W No ClinGen
gnomAD
CA395479313
rs1567243363
346 T>S No ClinGen
Ensembl
rs1596606311
CA395479321
347 S>G No ClinGen
Ensembl
COSM3937031
rs760747000
COSM3937029
CA7998034
COSM3937030
349 E>K oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA395479388
rs1257308058
350 S>I No ClinGen
gnomAD
CA395479426
rs1423285576
352 H>P No ClinGen
TOPMed
rs764083096
CA7998035
352 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1453862462
CA395479482
354 V>G No ClinGen
gnomAD
rs754049338
CA7998036
354 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1222639960
CA395479575
357 M>V No ClinGen
gnomAD
CA280394632
rs1018529386
359 I>V No ClinGen
TOPMed
gnomAD
CA395479699
rs778654857
361 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA7998038
rs778654857
361 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA395479791
rs1354636051
364 Q>H No ClinGen
gnomAD
CA7998039
rs145917075
364 Q>R No ClinGen
ESP
ExAC
rs1313504648
CA395479806
365 S>G No ClinGen
gnomAD
CA280394650
rs372509673
365 S>R No ClinGen
TOPMed
CA7998042
rs375972588
368 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1259110093
CA395480093
372 A>V No ClinGen
gnomAD
rs1214795018
CA395480169
374 A>V No ClinGen
TOPMed
TCGA novel 375 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769621464
CA7998046
377 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs760049440
CA7998049
378 E>K No ClinGen
ExAC
gnomAD
rs913318459
CA280394721
380 E>K No ClinGen
TOPMed
gnomAD
rs1252488322
CA395480492
385 E>K No ClinGen
TOPMed
rs1204795871
CA395480509
386 E>K No ClinGen
TOPMed
CA395480557
rs1240523500
388 E>K No ClinGen
gnomAD
rs751116068
RCV001323067
388 E>missing No ClinVar
dbSNP
rs1217237664
CA395480592
389 E>D No ClinGen
TOPMed
rs772575258
CA7998061
389 E>K No ClinGen
ExAC
gnomAD
rs1419361953
CA395480607
390 E>V No ClinGen
gnomAD
rs761114744
CA7998063
391 E>K No ClinGen
ExAC
gnomAD
rs1386636274
CA395480657
392 E>D No ClinGen
TOPMed
CA395480649
rs1302665844
392 E>G No ClinGen
TOPMed
rs753912286
CA7998065
393 G>V No ClinGen
ExAC
gnomAD
CA395480691
rs1432632673
395 E>K No ClinGen
TOPMed
gnomAD
rs1596606875
TCGA novel
CA395480723
396 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
CA395480729
rs1462713646
397 R>G No ClinGen
TOPMed
CA395480735
rs376173807
397 R>L No ClinGen
ESP
ExAC
gnomAD
CA7998068
rs376173807
397 R>Q No ClinGen
ESP
ExAC
gnomAD
rs1462713646
CA395480728
397 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs758131864
CA7998069
399 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA280394828
rs927256643
399 M>V No ClinGen
TOPMed
CA395480791
rs1304933585
400 A>V No ClinGen
gnomAD
rs35174880
CA7998070
401 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA280394852
rs377201939
402 M>L No ClinGen
gnomAD
rs1303323663
CA395480829
402 M>R No ClinGen
gnomAD
CA7998071
rs143466363
404 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1207720949
CA395480887
405 G>R No ClinGen
gnomAD
rs1480735123
CA395480937
407 H>R No ClinGen
gnomAD
CA395480951
rs1247745806
408 T>A No ClinGen
gnomAD
rs1455217182
CA395480967
409 V>I No ClinGen
gnomAD
rs1394416165
CA395480996
410 T>N No ClinGen
gnomAD
CA395480989
rs1596607039
410 T>P No ClinGen
Ensembl
rs1172229796
CA395481054
413 S>G No ClinGen
gnomAD
TCGA novel 414 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7998075
rs769569940
414 S>F No ClinGen
ExAC
gnomAD
CA7998076
rs777506344
415 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA395481143
rs1296704379
416 I>M No ClinGen
gnomAD
rs78058418
CA280394912
416 I>T No ClinGen
Ensembl
CA395481162
rs1596607097
417 H>P No ClinGen
Ensembl
CA7998078
rs772522310
418 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs182132470
CA7998077
418 R>W Variant assessed as Somatic; 7.945e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA395481191
rs1450138786
419 L>R No ClinGen
gnomAD
rs775736451
CA7998079
420 P>L No ClinGen
ExAC
gnomAD
rs1321003401 421 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7998101
rs769323834
423 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA395481421
rs769323834
423 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA395481544
rs1473954894
426 Y>C No ClinGen
Ensembl
TCGA novel 427 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395481613
rs1596607760
428 D>A No ClinGen
Ensembl
CA7998105
rs763141970
428 D>E No ClinGen
ExAC
gnomAD
CA395481642
rs1452310830
429 P>L No ClinGen
gnomAD
rs1248475476
CA395481675
431 Q>E No ClinGen
TOPMed
CA395481699
rs1315154656
432 P>A No ClinGen
TOPMed
gnomAD
rs1315154656
CA395481702
432 P>S No ClinGen
TOPMed
gnomAD
rs1414977223
CA395481732
433 E>D No ClinGen
gnomAD
rs1356529488
CA395481724
433 E>G No ClinGen
gnomAD
rs774195295
CA7998106
435 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs1224955381
CA395481797
438 P>R No ClinGen
gnomAD
rs1386865466
CA395481799
439 L>I No ClinGen
TOPMed
CA395481811
rs1418957987
440 Q>H No ClinGen
TOPMed
CA7998110
rs371609102
441 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7998112
rs753436930
442 P>R No ClinGen
ExAC
gnomAD
CA395481828
rs1444677867
443 A>V No ClinGen
TOPMed
rs756928555
CA7998113
444 A>S No ClinGen
ExAC
gnomAD
rs150531888
CA7998114
444 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1184947871
CA395481843
446 A>G No ClinGen
TOPMed
CA395481848
rs1255686667
447 P>R No ClinGen
gnomAD
rs1441119514
CA395481861
449 S>C No ClinGen
TOPMed
CA280395304
rs138564043
450 T>A No ClinGen
ESP
gnomAD
CA7998117
rs781569715
450 T>N No ClinGen
ExAC
gnomAD
CA7998118
rs748606036
451 T>A No ClinGen
ExAC
gnomAD
rs748606036
CA7998119
451 T>P No ClinGen
ExAC
gnomAD
TCGA novel 453 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA280395360
rs993846350
454 A>P No ClinGen
Ensembl
CA7998121
rs535835029
454 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA7998122
rs771174306
455 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7998123
rs774381953
455 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1237813627
CA395481893
456 R>C No ClinGen
gnomAD
CA7998125
rs771711319
456 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA395481900
rs1348255219
457 R>L No ClinGen
gnomAD
rs1348255219
CA395481898
457 R>Q No ClinGen
gnomAD
CA395481906
rs1209871229
458 A>V No ClinGen
gnomAD
rs74981424
CA7998126
459 Y>S No ClinGen
ExAC
gnomAD
CA395481918
rs1439755593
460 C>S No ClinGen
gnomAD
rs1025967617
CA280395416
461 R>C No ClinGen
TOPMed
gnomAD
CA7998127
rs146348272
461 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA280395442
rs900260278
462 N>S No ClinGen
TOPMed
TCGA novel 463 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs139763660
CA395481936
463 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7998128
rs139763660
463 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA280395475
rs1008626163
465 H>P No ClinGen
Ensembl
CA395481946
rs1396200475
465 H>Y No ClinGen
gnomAD
rs1172133483
CA395481965
467 A>V No ClinGen
TOPMed
gnomAD
rs1411245776
CA395481979
470 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1329159589
CA395481981
470 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1443952323
CA395481995
472 A>V No ClinGen
gnomAD
rs758092587
CA7998133
473 S>F No ClinGen
ExAC
gnomAD
CA7998150
rs761841772
476 S>R No ClinGen
ExAC
gnomAD
CA395484972
COSM969714
COSM969713
rs1278518808
477 R>H Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs974541828
CA280396962
484 Q>E No ClinGen
Ensembl
CA7998151
rs764604543
484 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs762484136
CA7998153
486 S>A No ClinGen
ExAC
gnomAD
CA395485099
rs1460731028
486 S>Y No ClinGen
TOPMed
rs1286967853
CA395485119
487 A>E No ClinGen
gnomAD
CA395485142
rs1192915734
489 R>L No ClinGen
TOPMed
gnomAD
CA395485140
COSM233542
rs1192915734
489 R>Q skin [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1189667865
CA395485206
494 G>D No ClinGen
gnomAD
CA7998158
rs754246307
497 R>Q No ClinGen
ExAC
gnomAD
rs1460478609
CA395485244
497 R>W No ClinGen
gnomAD
CA395485272
rs1401260670
499 R>Q No ClinGen
gnomAD
rs778824846
CA7998160
500 R>Q No ClinGen
ExAC
gnomAD
CA395485288
rs1338177122
501 Q>K No ClinGen
gnomAD
CA7998161
rs200883075
508 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7998163
rs772408260
512 R>L No ClinGen
ExAC
gnomAD
COSM1377295
COSM1377296
CA7998162
rs772408260
512 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA395485427
rs1246992068
512 R>W No ClinGen
TOPMed
rs747237611
CA7998164
514 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs1486860798
CA395485479
517 R>G No ClinGen
gnomAD
CA7998165
rs768531269
517 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA395485481
COSM241844
rs1486860798
517 R>W prostate [Cosmic] No ClinGen
cosmic curated
gnomAD
CA7998167
rs748013785
522 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs772595318
CA7998169
523 R>Q No ClinGen
ExAC
gnomAD
CA7998168
rs769811063
523 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs142369950
CA7998171
526 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA280397195
rs376299348
526 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs773930903
CA7998172
528 L>F No ClinGen
ExAC
gnomAD
CA395485614
rs1313318145
529 E>* No ClinGen
gnomAD
rs759204508
CA7998173
530 A>V No ClinGen
ExAC
gnomAD
rs991166338
CA280397211
531 Q>H No ClinGen
TOPMed
CA395485642
rs1474933883
531 Q>R No ClinGen
gnomAD
CA280397212
rs747450511
532 R>Q No ClinGen
TOPMed
gnomAD
rs373048486
CA7998175
532 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757697666
CA7998176
533 A>G No ClinGen
ExAC
CA395485698
rs1238878095
534 G>D No ClinGen
gnomAD
rs1238878095
CA395485703
534 G>V No ClinGen
gnomAD
CA7998177
rs765828326
535 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs750905955
CA7998178
536 G>A No ClinGen
ExAC
gnomAD
CA395485754
rs1235475784
COSM969720
COSM969719
537 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA395485777
rs1434403377
538 E>Q No ClinGen
TOPMed
rs564533648
CA7998179
539 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA280397252
rs916776801
543 A>S No ClinGen
gnomAD
CA395485916
rs916776801
543 A>T No ClinGen
gnomAD
CA395485939
rs1198397765
543 A>V No ClinGen
gnomAD
CA280397266
rs771339219
544 R>Q No ClinGen
gnomAD
rs780311914
CA7998180
544 R>W No ClinGen
ExAC
TOPMed
gnomAD
COSM1377297
CA7998182
rs755300621
COSM1377298
545 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748043490
CA7998184
547 Q>H No ClinGen
ExAC
gnomAD
CA395486087
rs1239589256
548 A>V No ClinGen
TOPMed
CA7998185
rs769608292
549 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA7998187
rs773147120
550 G>A No ClinGen
ExAC
gnomAD
rs773147120
CA7998186
550 G>V No ClinGen
ExAC
gnomAD
rs1397232670
CA395486206
552 K>E No ClinGen
gnomAD
TCGA novel 552 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7998189
rs773896207
554 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7998190
rs759153586
555 R>P No ClinGen
ExAC
gnomAD
rs776843842
CA7998192
560 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1314042631
CA395486457
561 E>G No ClinGen
TOPMed
CA395486447
rs1230526351
561 E>K No ClinGen
gnomAD
CA395486475
rs1339726468
562 R>Q No ClinGen
gnomAD
CA7998193
rs371473286
562 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA395486584
rs1235870063
565 Q>* No ClinGen
gnomAD
rs750894918
CA395486646
567 H>N No ClinGen
ExAC
gnomAD
CA7998195
rs750894918
567 H>Y No ClinGen
ExAC
gnomAD
rs759005614
CA7998196
568 I>V No ClinGen
ExAC
gnomAD
TCGA novel 569 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751737195
CA7998198
573 K>Q No ClinGen
ExAC
gnomAD
CA7998199
rs755236889
574 K>E No ClinGen
ExAC
gnomAD
rs1311721853
CA395486873
574 K>N No ClinGen
TOPMed
CA280397409
rs1049338916
576 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1465339344
CA395486956
578 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA395486979
rs1396815414
580 L>V No ClinGen
gnomAD
CA7998203
rs777448049
582 A>V No ClinGen
ExAC
gnomAD
CA280397451
rs886400996
585 R>W No ClinGen
TOPMed
TCGA novel 586 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7998204
rs373817628
588 K>R No ClinGen
ESP
ExAC
gnomAD
rs770907647
CA7998205
590 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770907647
CA395487171
590 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs778384842
CA7998206
593 Q>R No ClinGen
ExAC
gnomAD
CA395487265
rs1567246698
595 K>R No ClinGen
Ensembl
rs779463362
CA7998226
598 L>F No ClinGen
ExAC
gnomAD
CA395487371
rs1567246884
598 L>H No ClinGen
Ensembl
rs1214657654
CA395487378
599 Q>* No ClinGen
gnomAD
rs1259853271
CA395487383
599 Q>R No ClinGen
gnomAD
rs1475694204
CA395487435
603 S>R No ClinGen
TOPMed
gnomAD
CA7998228
rs768242398
605 P>R No ClinGen
ExAC
gnomAD
CA395487499
rs773698336
607 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs773698336
CA7998229
607 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1421345639
CA395487495
607 R>W No ClinGen
gnomAD
CA395487542
rs1418267815
610 A>G No ClinGen
gnomAD
CA7998232
rs774939081
611 E>D No ClinGen
ExAC
gnomAD
CA280397632
rs958428636
611 E>K No ClinGen
Ensembl
CA395487563
rs1596612634
612 W>G No ClinGen
Ensembl
CA7998233
rs759980483
612 W>S No ClinGen
ExAC
gnomAD
CA395487591
rs767589606
615 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA7998235
rs752773455
615 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7998234
rs767589606
615 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs764370184
CA7998237
620 L>F No ClinGen
ExAC
gnomAD
CA395487675
rs1567247125
621 Q>* No ClinGen
Ensembl
CA395487708
rs1486107610
623 C>F No ClinGen
gnomAD
rs756991109
CA7998239
623 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs61737877
CA7998240
625 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7998242
rs758308556
626 E>G No ClinGen
ExAC
gnomAD
rs866396115
CA280397693
628 E>G No ClinGen
Ensembl
rs1175895944
CA395487768
629 A>T No ClinGen
gnomAD
CA7998244
rs746558110
629 A>V No ClinGen
ExAC
gnomAD
rs141485756
CA7998246
631 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1335235322
CA395487810
632 L>P No ClinGen
TOPMed
CA7998249
rs774884028
633 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs771370720
CA7998248
633 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 634 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1444531731
CA395487826
634 R>Q No ClinGen
gnomAD
rs746350821
CA7998250
634 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1345489471
CA395487849
636 R>C No ClinGen
gnomAD
CA7998251
rs772517477
636 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7998252
rs775639559
637 Q>E No ClinGen
ExAC
gnomAD
rs760608251
CA7998253
637 Q>H No ClinGen
ExAC
gnomAD
CA7998254
rs764175840
638 Y>C No ClinGen
ExAC
gnomAD
rs1382401335
CA395487934
642 Q>H No ClinGen
TOPMed
CA7998255
rs776787473
644 R>C No ClinGen
ExAC
gnomAD
CA395487950
rs776787473
644 R>G No ClinGen
ExAC
gnomAD
rs762055796
CA7998256
644 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs996193871
CA280397776
645 Q>H No ClinGen
gnomAD
CA280397770
rs901881004
645 Q>P No ClinGen
Ensembl
rs750234872
CA7998258
647 K>E No ClinGen
ExAC
gnomAD
rs758342146
CA7998259
648 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs758342146
CA395488004
648 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs892936316
CA395488005
648 R>H No ClinGen
Ensembl
CA280397792
rs892936316
648 R>L No ClinGen
Ensembl
CA395488038
rs1596613064
650 M>I No ClinGen
Ensembl
rs551868876
CA280397811
654 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7998263
rs780869753
654 R>Q No ClinGen
ExAC
gnomAD
rs551868876
CA7998261
654 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7998264
rs747760164
656 S>I No ClinGen
ExAC
rs1327843933
CA395488174
658 D>E No ClinGen
gnomAD
rs144910819
CA7998265
658 D>N No ClinGen
ESP
ExAC
gnomAD
rs779412253
CA7998266
659 Q>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 660 D>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7998267
rs746288522
660 D>V No ClinGen
ExAC
gnomAD
rs1020575217
CA395488254
663 R>G No ClinGen
TOPMed
rs772493861
CA7998268
663 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA280397842
rs1020575217
663 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs777255470
CA280397846
664 E>Q No ClinGen
TOPMed
rs748293084
CA7998291
665 D>N No ClinGen
ExAC
gnomAD
CA395488534
rs773248587
CA7998293
667 N>K No ClinGen
ExAC
gnomAD
rs763256431
CA7998294
669 K>Q No ClinGen
ExAC
rs1216473159
CA395488670
675 L>F No ClinGen
TOPMed
CA395488688
rs1258578574
678 A>T No ClinGen
gnomAD
CA395488695
rs1334866099
679 L>V No ClinGen
gnomAD
rs759519804
CA7998297
682 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7998296
COSM1267397
rs774239550
COSM1267396
682 R>W Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA280398362
rs543666690
684 H>D No ClinGen
1000Genomes
rs201394687
CA7998299
685 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201560518
CA280398370
685 E>G No ClinGen
gnomAD
CA395488762
rs1396457128
685 E>K No ClinGen
TOPMed
CA7998300
rs372787552
COSM1267393
COSM1267394
687 T>M oesophagus [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA7998303
rs756975773
688 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753394748
CA7998302
688 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA395488827
rs1455337379
690 L>V No ClinGen
TOPMed
CA395488833
rs1253214945
691 E>K No ClinGen
TOPMed
rs755472068
CA7998306
693 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7998305
rs780259481
693 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA395488882
rs1468316022
694 Q>R No ClinGen
TOPMed
rs541201834
CA7998308
698 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs541201834
CA7998309
698 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1394353002
CA395488956
699 Q>H No ClinGen
gnomAD
rs777936445
CA7998310
700 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777936445
CA395488962
700 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7998311
rs749437354
700 R>H No ClinGen
ExAC
gnomAD
CA7998313
rs773999686
701 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1256207952
CA395488996
703 A>T No ClinGen
gnomAD
CA7998316
rs55893926
703 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1198195420
CA395489064
705 L>P No ClinGen
gnomAD
rs1458122828
CA395489085
706 T>I No ClinGen
gnomAD
CA7998317
rs760728409
706 T>P No ClinGen
ExAC
gnomAD
CA395489103
rs1236066028
707 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs559551824
CA7998319
707 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 709 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395489275
rs1173949164
711 Q>H No ClinGen
gnomAD
rs1406395729
CA395489290
712 T>M No ClinGen
gnomAD
CA280398465
rs1042209489
715 G>V No ClinGen
Ensembl
rs767889343
CA7998324
721 N>S No ClinGen
ExAC
gnomAD
TCGA novel 722 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7998325
rs753160957
723 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA280398500
rs756682464
724 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs867355297
CA280398505
724 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs867355297
CA395489606
724 R>L No ClinGen
TOPMed
gnomAD
rs756682464
CA7998326
724 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs143012134
CA7998328
726 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143012134
CA7998327
726 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7998329
rs757412915
727 E>A No ClinGen
ExAC
gnomAD
CA395489703
rs1256067563
727 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs779224250
CA280398523
729 R>W No ClinGen
ExAC
gnomAD
CA7998331
rs746118559
733 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs775467090
CA7998333
734 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs746899846
CA7998334
735 Q>E No ClinGen
ExAC
CA395489985
rs1596614914
736 V>G No ClinGen
Ensembl
CA280398537
rs796285883
736 V>I No ClinGen
gnomAD
CA395490017
rs1352088641
737 R>H No ClinGen
TOPMed
gnomAD
CA7998336
rs776001863
742 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA395490265
rs1596614971
745 V>G No ClinGen
Ensembl
rs563881487
CA7998338
746 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs377399375
CA7998339
746 R>H No ClinGen
ESP
ExAC
rs978611776
CA280398549
747 A>V No ClinGen
TOPMed
gnomAD
rs762623585
CA7998340
750 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs767834118
CA7998342
750 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1245457402
CA395490403
751 P>S No ClinGen
TOPMed
gnomAD
rs753107537
CA7998343
752 P>L No ClinGen
ExAC
TOPMed
CA395490435
rs753107537
752 P>R No ClinGen
ExAC
TOPMed
CA7998346
rs754317954
753 G>D No ClinGen
ExAC
gnomAD
CA395490467
rs754317954
753 G>V No ClinGen
ExAC
gnomAD
rs141593689
CA7998347
754 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395490491
rs1488108144
755 P>A No ClinGen
gnomAD
CA7998348
rs779167423
755 P>L No ClinGen
ExAC
gnomAD
CA7998350
rs758744945
758 I>V No ClinGen
ExAC
TOPMed
rs1299265690
CA395490628
761 A>S No ClinGen
TOPMed
gnomAD
CA7998352
rs746888550
761 A>V No ClinGen
ExAC
gnomAD
rs1177683377
CA395490652
763 G>S No ClinGen
TOPMed
gnomAD
CA7998353
rs768342491
764 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7998355
rs748058489
765 P>L No ClinGen
ExAC
gnomAD
rs767332536
CA280398640
766 N>S No ClinGen
Ensembl
rs1180573760
CA395490710
766 N>Y No ClinGen
TOPMed
CA395490732
rs1319923797
767 T>A No ClinGen
gnomAD
rs772748056
CA7998357
767 T>I No ClinGen
ExAC
gnomAD
rs992122323
CA280398647
768 G>D No ClinGen
TOPMed
CA7998360
rs199554981
769 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7998359
rs199554981
769 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs761030327
CA395490836
775 P>A No ClinGen
ExAC
gnomAD
rs761030327
CA7998361
775 P>S No ClinGen
ExAC
gnomAD
CA7998362
rs371212254
776 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395490846
rs1181418672
776 C>W No ClinGen
gnomAD
rs754333462
CA7998363
777 S>L No ClinGen
ExAC
gnomAD
CA280398704
rs61737884
778 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7998365
rs547599281
778 P>L No ClinGen
1000Genomes
ExAC
RCV000957402
CA7998364
rs61737884
778 P>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA395490884
rs1380101195
780 Q>R No ClinGen
gnomAD
rs750589804
CA7998366
782 A>P No ClinGen
ExAC
gnomAD
rs758689808
CA7998367
783 V>I No ClinGen
ExAC
gnomAD
rs780356988
CA7998368
784 L>V No ClinGen
ExAC
gnomAD
rs751742851
CA395490989
787 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1235011512
CA395491007
788 M>I No ClinGen
TOPMed
rs780878586
CA7998371
788 M>T No ClinGen
ExAC
gnomAD
CA7998370
rs754752396
788 M>V No ClinGen
ExAC
gnomAD
CA7998372
rs748086166
789 L>F No ClinGen
ExAC
gnomAD
rs965191672
CA280398729
789 L>H No ClinGen
gnomAD
CA7998374
rs777249780
790 G>D No ClinGen
ExAC
gnomAD
rs748859380
CA7998377
791 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1209469922
CA395491057
792 E>K No ClinGen
gnomAD
CA280398758
rs369242417
794 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770429011
CA7998378
794 E>K No ClinGen
ExAC
gnomAD
TCGA novel 800 R>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA280398783
rs192505565
802 L>Q No ClinGen
1000Genomes
TOPMed
CA7998382
rs769037390
803 G>V No ClinGen
ExAC
gnomAD
CA395491287
rs1426792374
805 E>V No ClinGen
TOPMed
gnomAD
rs1299220336
CA395491299
806 G>R No ClinGen
gnomAD
CA7998384
rs762396870
807 A>T No ClinGen
ExAC
gnomAD
CA395491346
rs765912677
808 T>A No ClinGen
ExAC
TOPMed
CA7998385
rs765912677
RCV001352268
808 T>P No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
CA7998386
rs750971493
809 L>S No ClinGen
ExAC
gnomAD
rs750971493
CA7998387
809 L>W No ClinGen
ExAC
gnomAD
TCGA novel 810 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7998388
rs766586652
810 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA280398813
rs142024220
811 P>A No ClinGen
ESP
CA7998390
rs755195552
812 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs150689389
CA7998391
RCV000899159
813 Q>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7998393
rs558241184
RCV000943535
821 S>L No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs202135474
CA280398848
822 G>R No ClinGen
Ensembl
rs777617556
CA7998394
824 P>L No ClinGen
ExAC
gnomAD
CA7998395
rs749234269
826 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs74854860
CA280398870
831 H>R No ClinGen
ESP
TOPMed
gnomAD
rs924684117
CA280398872
833 S>I No ClinGen
Ensembl
TCGA novel 833 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770390468
CA7998396
834 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA7998398
rs745515041
836 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA395492201
rs1247676673
837 E>Q No ClinGen
TOPMed
gnomAD
rs771680677
CA7998399
838 E>D No ClinGen
ExAC
gnomAD
rs117592185
CA7998400
840 W>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1426513389
CA395492315
841 G>V No ClinGen
TOPMed
gnomAD
rs748459591
CA7998401
842 L>V No ClinGen
ExAC
gnomAD
rs370350268
CA7998402
843 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 843 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395492457
rs375935255
845 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766451008
CA7998406
846 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA7998405
rs763583385
846 I>T No ClinGen
ExAC
gnomAD
CA395492507
rs1435945558
847 E>K No ClinGen
gnomAD
CA395492541
rs1301507535
848 E>K No ClinGen
gnomAD
rs759787568
CA7998408
849 L>P No ClinGen
ExAC
gnomAD
rs774342911
CA7998407
849 L>V No ClinGen
ExAC
gnomAD
CA395492632
rs1163117187
850 R>K No ClinGen
TOPMed
rs139952928
CA395492640
850 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755844002
CA7998411
851 V>G No ClinGen
ExAC
gnomAD
rs752917907
CA395492656
851 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7998410
rs752917907
851 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA7998412
rs763911645
852 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs763911645
CA280398930
852 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA395492695
rs1290949015
852 P>S No ClinGen
gnomAD
CA7998413
rs149357185
854 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395492737
rs1567249451
854 L>V No ClinGen
Ensembl
rs1215399730
CA395492780
856 P>L No ClinGen
TOPMed
rs757238729
CA395492862
859 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA7998414
rs757238729
859 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA7998416
rs745437107
860 S>R No ClinGen
ExAC
gnomAD
CA395492917
rs1422321038
861 I>T No ClinGen
gnomAD
rs1207933586
CA395493110
869 T>A No ClinGen
TOPMed
CA7998418
rs537042619
869 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770242526
CA7998421
873 W>L No ClinGen
ExAC
TOPMed
gnomAD
CA7998420
rs770242526
873 W>S No ClinGen
ExAC
TOPMed
gnomAD
CA395493341
rs1443570802
875 K>R No ClinGen
TOPMed
TCGA novel 876 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763865713
CA280399036
877 D>H No ClinGen
Ensembl
TCGA novel 878 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7998422
rs749790271
881 L>V No ClinGen
ExAC
gnomAD
TCGA novel 882 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1297610371
CA395493540
882 D>V No ClinGen
gnomAD
CA280399045
rs997918254
883 E>D No ClinGen
Ensembl
CA395493593
rs1324764918
884 E>G No ClinGen
gnomAD
TCGA novel 884 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771398541
CA7998423
887 L>P No ClinGen
ExAC
gnomAD
rs1430613115
CA395493773
889 W>C No ClinGen
gnomAD
CA7998425
rs759463491
889 W>S No ClinGen
ExAC
TOPMed
gnomAD
rs767646576
CA7998426
891 Q>R No ClinGen
ExAC
gnomAD
rs1355347469
CA395493855
894 A>S No ClinGen
gnomAD
CA395493858
rs1216926728
894 A>V No ClinGen
gnomAD
CA280399102
rs574261683
896 T>I No ClinGen
Ensembl
CA7998431
rs145442196
898 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7998432
rs573977459
899 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs750389837
CA7998433
900 E>A No ClinGen
ExAC
gnomAD
rs377728634
CA7998435
905 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7998436
rs779645307
905 E>V No ClinGen
ExAC
gnomAD
TCGA novel 907 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754726955
CA7998438
909 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs754726955
CA280399131
909 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs778268053
COSM3690912
COSM3690911
CA7998439
910 P>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs909457929
RCV001326753
CA280399143
911 I>T No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA395494313
rs1378116017
913 T>N No ClinGen
gnomAD
rs1194799603
CA395494333
914 P>S No ClinGen
TOPMed
rs1339361800
CA395494388
916 D>E No ClinGen
TOPMed
rs1460907216
CA395494399
917 P>A No ClinGen
gnomAD
rs1240351892
CA395494447
919 D>Y No ClinGen
gnomAD
rs749733211
CA7998440
922 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs749733211
CA280399167
922 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1348147264
CA395494539
923 S>P No ClinGen
gnomAD
CA280399187
rs867958493
925 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA395494607
rs1460785183
926 I>V No ClinGen
gnomAD
CA395494682
rs1596616483
929 E>D No ClinGen
Ensembl
CA280399189
rs969034315
930 P>S No ClinGen
TOPMed
CA7998442
rs779227926
934 H>L No ClinGen
ExAC
gnomAD
CA395496529
rs779227926
934 H>P No ClinGen
ExAC
gnomAD
CA395496548
rs1440058731
934 H>Q No ClinGen
TOPMed
gnomAD
CA395496525
rs1596616517
934 H>Y No ClinGen
Ensembl
rs772017668
CA7998445
937 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA395496598
rs1362248747
937 P>S No ClinGen
gnomAD
rs200702514
CA7998446
938 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA395496641
rs1468639624
939 P>L No ClinGen
gnomAD
CA395496634
rs1401625251
939 P>S No ClinGen
gnomAD
rs370623476
CA7998447
940 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395496670
rs1401737575
941 S>R No ClinGen
gnomAD
CA7998448
rs768936564
942 Q>H No ClinGen
ExAC
gnomAD
CA395496673
rs1446464907
942 Q>K No ClinGen
gnomAD
rs1435608823
CA395496706
944 P>T No ClinGen
TOPMed
CA395496725
rs1234999758
945 G>R No ClinGen
gnomAD
rs750289878
CA7998455
951 L>F No ClinGen
ExAC
gnomAD
rs750289878
CA7998454
951 L>I No ClinGen
ExAC
gnomAD
rs1248182340
CA395496841
951 L>P No ClinGen
gnomAD
rs1428613332
CA395496863
953 A>T No ClinGen
gnomAD
CA395496881
rs1479491292
953 A>V No ClinGen
gnomAD
rs752404075
CA7998461
954 G>A No ClinGen
ExAC
gnomAD
CA7998459
rs374422460
954 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7998460
rs752404075
954 G>V No ClinGen
ExAC
gnomAD
CA395496893
rs1181348040
955 L>F No ClinGen
TOPMed
CA7998462
rs779363895
958 A>V No ClinGen
ExAC
gnomAD
CA395497032
rs1596616850
961 S>T No ClinGen
Ensembl
rs368349313
CA280400390
962 S>F No ClinGen
ESP
TOPMed
gnomAD
CA395497114
rs1474280101
963 S>Y No ClinGen
Ensembl
CA395497133
rs1279600569
965 L>I No ClinGen
gnomAD
CA395497172
rs1184778082
967 P>L No ClinGen
Ensembl
rs1226649608
CA395497158
967 P>T No ClinGen
gnomAD
rs1358807686
CA395497273
972 L>P No ClinGen
TOPMed
CA395497296
rs1264035631
974 L>F No ClinGen
gnomAD
rs1596617041
CA395497391
978 A>E No ClinGen
Ensembl
rs1408415439
CA395497460
981 G>D No ClinGen
TOPMed
CA395497471
rs1458728329
982 G>R No ClinGen
gnomAD
rs1370755774 983 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA395497540
rs1402743256
986 Q>* No ClinGen
gnomAD
CA280400416
rs368557354
987 A>S No ClinGen
ESP
TOPMed
gnomAD
rs371334367
CA280400419
987 A>V No ClinGen
ESP
TOPMed
gnomAD
rs201030524
CA7998476
988 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1357498708
CA395497623
991 A>G No ClinGen
gnomAD
rs1357498708
CA395497625
991 A>V No ClinGen
gnomAD
CA395497631
rs1219079424
992 L>F No ClinGen
gnomAD
CA395497660
rs1490036487
993 E>D No ClinGen
gnomAD
rs759054733
CA7998479
995 G>V No ClinGen
ExAC
gnomAD
CA7998480
rs767155571
996 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs752250092
CA7998481
997 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs1183321738
CA395497722
998 G>C No ClinGen
gnomAD
CA7998483
rs779135850
1000 G>V No ClinGen
ExAC
gnomAD
rs778607509
CA280400459
1003 Y>C No ClinGen
TOPMed
gnomAD
rs778607509
CA395497792
1003 Y>S No ClinGen
TOPMed
gnomAD
rs1234051453
CA395497809
1004 L>Q No ClinGen
TOPMed
rs758771154
CA7998485
1005 L>F No ClinGen
ExAC
gnomAD
CA7998487
rs368171889
1006 L>F No ClinGen
ESP
ExAC
gnomAD
CA7998486
rs368171889
1006 L>V No ClinGen
ESP
ExAC
gnomAD
TCGA novel 1007 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA395497881
rs1396567805
1008 T>I No ClinGen
gnomAD
CA395497884
rs1314022526
1009 A>T No ClinGen
TOPMed
gnomAD
rs948537507
CA280400499
1009 A>V No ClinGen
Ensembl
rs1596617387
CA395497931
1011 H>Q No ClinGen
Ensembl
CA7998491
rs770111165
1013 P>L No ClinGen
ExAC
gnomAD
CA395497943
rs1287001693
1013 P>S No ClinGen
gnomAD
rs1483843891
CA395497998
1018 L>V No ClinGen
gnomAD
rs1241626262
CA395498013
1019 L>F No ClinGen
TOPMed
gnomAD
rs1241626262
CA395498009
1019 L>I No ClinGen
TOPMed
gnomAD
CA395498036
rs1179728929
1021 A>T No ClinGen
gnomAD
rs1408226261
CA395498045
1022 Q>K No ClinGen
gnomAD
rs1418199770
CA395498054
1022 Q>R No ClinGen
gnomAD
rs1048258295
CA280400516
1023 G>S No ClinGen
Ensembl
CA395498080
rs1156261345
1024 T>A No ClinGen
TOPMed
gnomAD
CA280400518
rs909787343
1024 T>I No ClinGen
Ensembl
rs1261463041
CA395498100
1025 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs774378915
CA7998495
1026 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA7998496
rs200094589
1027 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA7998498
rs140857929
1029 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395498247
rs1222316235
1032 L>P No ClinGen
gnomAD
CA7998500
rs763739523
1033 S>G No ClinGen
ExAC
gnomAD
rs1312865991
CA395498288
1034 W>* No ClinGen
gnomAD
CA395498296
rs1223048815
1035 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7998501
rs144609126
1035 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395498305
rs1459511676
1036 R>* No ClinGen
gnomAD
CA7998502
rs146662869
1036 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1596617740
CA395498324
1037 G>A No ClinGen
Ensembl
rs1480068036
CA395498349
1039 M>V No ClinGen
gnomAD
rs1426902378
CA395498397
1041 V>I No ClinGen
gnomAD
rs1016930399
CA280400639
1042 P>L No ClinGen
TOPMed
gnomAD
CA395498430
rs1016930399
1042 P>R No ClinGen
TOPMed
gnomAD
rs1467139496
CA395498491
1045 L>V No ClinGen
gnomAD
rs1329255988
CA395498513
1046 G>R No ClinGen
gnomAD
CA395498549
rs1353715685
1047 A>T No ClinGen
gnomAD
rs1440224288
CA395498576
1047 A>V No ClinGen
gnomAD
rs565696351
CA7998505
1048 A>P No ClinGen
1000Genomes
ExAC
gnomAD
rs565696351
CA395498581
1048 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs748325493
CA7998507
1049 W>* No ClinGen
ExAC
gnomAD
rs781117726
CA7998506
1049 W>L No ClinGen
ExAC
gnomAD
rs1281510718
CA395498642
1050 L>F No ClinGen
gnomAD
rs1219787134
CA395498704
1052 A>S No ClinGen
gnomAD
rs1297054153
CA395498771
1053 W>C No ClinGen
TOPMed
CA395498852
rs1432713751
1057 A>V No ClinGen
TOPMed
rs1306112043
CA395498912
1059 P>L No ClinGen
gnomAD
rs777989484
CA7998509
1061 V>M No ClinGen
ExAC
gnomAD
rs369823069
CA7998511
1063 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774325942
CA7998513
COSM1377300
1065 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
COSM1301847
CA280400712
rs972217949
1067 G>D Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA395499179
rs972217949
1067 G>V No ClinGen
TOPMed
gnomAD
rs752509959 1068 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA7998515
rs772206724
1069 W>R No ClinGen
ExAC
gnomAD
rs775298762
CA7998516
1070 V>L No ClinGen
ExAC
gnomAD
CA7998519
rs776308173
1071 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs763535632
CA7998518
1071 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA395499274
rs533140450
1072 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7998520
rs533140450
1072 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1342464401
CA395499331
1073 Q>* No ClinGen
gnomAD
rs1270124447
CA395499360
1074 G>D No ClinGen
gnomAD
rs373055729
CA7998522
1074 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755470822
CA7998523
1075 P>L No ClinGen
ExAC
gnomAD
rs753157774
CA395499407
1076 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA7998525
rs753157774
1076 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7998524
rs768000716
1076 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7998526
rs756165206
1077 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs777742559
CA7998527
1078 R>C No ClinGen
ExAC
gnomAD
rs754079189
CA7998528
1078 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs757599173
CA7998529
1079 R>Q No ClinGen
ExAC
gnomAD
CA395499467
rs1474414444
1079 R>W No ClinGen
gnomAD
CA395499492
rs1424189692
1080 G>D No ClinGen
gnomAD
CA7998530
rs778850239
1080 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA280400798
rs942365388
1081 I>M No ClinGen
TOPMed
rs1567250822
CA395499509
1081 I>V No ClinGen
Ensembl
rs771780720
CA7998532
1083 R>Q No ClinGen
ExAC
gnomAD
CA395499581
rs1243048569
1084 L>F No ClinGen
TOPMed
gnomAD
rs1401327054
CA395499617
1085 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA280400800
rs1031649698
1087 R>G No ClinGen
TOPMed
gnomAD
CA280400823
rs925207056
1087 R>Q No ClinGen
TOPMed
gnomAD
CA280400820
rs1031649698
1087 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA395499732
rs1382519704
1091 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7998533
rs779997095
1091 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1432898900
CA395499863
1095 M>I No ClinGen
TOPMed
CA7998536
rs776168886
1095 M>T No ClinGen
ExAC
gnomAD
rs570111696
CA7998535
1095 M>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1423760081
CA395499916
1097 F>L No ClinGen
TOPMed
CA280400868
COSM1470849
rs970207198
1098 R>Q prostate Variant assessed as Somatic; 0.0001391 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs761440065
CA7998537
1098 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1203054773
CA395499943
1099 A>S No ClinGen
TOPMed
CA7998540
rs200281592
1101 Q>R No ClinGen
TOPMed
rs767790551
CA7998545
1109 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs759836142
CA7998544
1109 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1013415121
CA280400928
1110 G>S No ClinGen
TOPMed
CA395500290
rs1337949451
1112 F>L No ClinGen
gnomAD
TCGA novel 1113 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764209611
CA7998548
1114 L>V No ClinGen
ExAC
gnomAD
rs750700093
CA7998552
1119 N>K No ClinGen
ExAC
gnomAD
rs779222499
CA7998551
1119 N>S No ClinGen
ExAC
gnomAD
CA395500423
rs1278377206
1121 D>H No ClinGen
gnomAD
CA280400972
rs113853312
1122 G>D No ClinGen
Ensembl
rs1347901538
CA395500442
1122 G>S No ClinGen
gnomAD
COSM1228489
CA280400977
rs905235426
1124 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs750925824
CA280401008
1126 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs189332502
CA7998554
1126 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs78092725
CA7998557
1129 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7998559
rs769306491
1131 G>A No ClinGen
ExAC
gnomAD
CA7998561
rs762541075
1132 P>L No ClinGen
ExAC
gnomAD
rs147468853
CA7998563
1133 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772447624
CA7998562
1133 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA7998565
rs545581481
1134 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs761228642
CA7998564
1134 R>W No ClinGen
ExAC
gnomAD
CA280401034
rs954914582
1135 R>C No ClinGen
TOPMed
CA7998568
rs374855838
1135 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1406219826
CA395500612
1136 N>D No ClinGen
gnomAD
rs1209067791
CA395500638
1137 P>L No ClinGen
TOPMed
CA7998570
rs557300662
1138 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA395500654
rs1221615653
1138 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1340533086
CA395500659
1139 T>A No ClinGen
TOPMed
CA7998571
rs766185229
1139 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1567251310
CA395500710
1142 H>Y No ClinGen
Ensembl
CA7998572
rs751374679
1143 P>L No ClinGen
ExAC
gnomAD
rs1248650704
CA395500745
1144 L>S No ClinGen
gnomAD
rs781049167
CA7998574
1148 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA280401099
rs1031930816
1149 R>S No ClinGen
TOPMed
gnomAD
rs1322987636
CA395500838
1150 V>F No ClinGen
TOPMed
CA395500866
rs1173182915
1151 W>* No ClinGen
gnomAD
rs1388636808
CA395500876
1152 V>F No ClinGen
TOPMed
rs200334119
CA7998578
1160 R>H No ClinGen
1000Genomes
ExAC
gnomAD
CA395501036
rs1567251403
1162 A>V No ClinGen
Ensembl
CA7998580
rs143930866
1163 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA395501068
rs1402619693
1165 S>G No ClinGen
gnomAD
TCGA novel 1165 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1297635790
CA395501075
1165 S>T No ClinGen
gnomAD
CA7998582
rs769166765
1166 Q>R No ClinGen
ExAC
gnomAD
CA280401171
rs970533552
1167 G>D No ClinGen
TOPMed
gnomAD
CA395501110
rs970533552
1167 G>V No ClinGen
TOPMed
gnomAD
CA7998583
rs777238588
1169 A>T No ClinGen
ExAC
gnomAD
CA395501161
rs1223511523
1170 S>P No ClinGen
TOPMed
gnomAD
rs371354252
CA7998584
1173 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395501255
rs371354252
1173 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7998587
rs375289466
1174 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA395501284
rs375289466
1174 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs878872050
CA280401191
1175 W>G No ClinGen
Ensembl
CA395501413
rs1215457514
1178 H>R No ClinGen
TOPMed
rs1356484232
CA395501439
1179 T>I No ClinGen
TOPMed
rs767326939
CA7998591
1181 A>T No ClinGen
ExAC
gnomAD
rs1264378100
CA395501484
1181 A>V No ClinGen
TOPMed
rs1327839352
CA395501622
1186 L>F No ClinGen
TOPMed
rs1364648297
CA395501645
1187 R>L No ClinGen
TOPMed
gnomAD
CA395501653
rs1364648297
1187 R>Q No ClinGen
TOPMed
gnomAD
rs1163810684
CA395501640
1187 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7998594
rs777250056
1188 G>S No ClinGen
ExAC
gnomAD
rs1364899186
CA395501679
1188 G>V No ClinGen
TOPMed
CA395501694
rs1319182013
1189 E>K No ClinGen
TOPMed
CA395501746
rs778381460
1190 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA7998597
rs778381460
1190 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7998596
rs756806042
1190 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA395501761
rs1246519045
1191 P>S No ClinGen
gnomAD
CA395501807
rs1264132970
1193 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA395501812
rs1357616561
1193 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA395501826
rs1217977686
1194 I>V No ClinGen
gnomAD
CA395501860
rs1261415972
1195 P>L No ClinGen
gnomAD
rs540709989
CA7998602
COSM417054
1196 R>Q urinary_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA7998600
rs777189424
1196 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs762880651
CA7998604
1197 L>V No ClinGen
ExAC
gnomAD
CA395501934
rs1596619394
1198 L>P No ClinGen
Ensembl
CA280401273
rs984235071
1198 L>V No ClinGen
TOPMed
CA7998607
rs371014944
1200 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7998606
rs371014944
1200 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767277640
CA7998608
1200 R>H No ClinGen
ExAC
gnomAD
rs905288414
CA280401302
1202 Q>P No ClinGen
TOPMed
CA395502055
rs1318448458
1203 R>C No ClinGen
TOPMed
gnomAD
rs752545505
CA7998610
1203 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7998611
rs760600341
1204 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA395502090
rs1453067603
1204 Q>P No ClinGen
gnomAD
rs961237314
CA280401322
1206 G>E No ClinGen
Ensembl
rs2069863285
RCV001310055
1206 G>R No ClinVar
dbSNP
rs373807941
CA7998613
1207 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA280401333
rs993457550
1208 P>S No ClinGen
TOPMed
CA280401340
rs922513697
1209 A>G No ClinGen
Ensembl
rs267604505
CA280401342
1210 S>F No ClinGen
Ensembl
rs562874743
CA7998615
1211 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs11864149
CA7998616
1211 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs11864149
CA280401344
1211 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA395502285
rs11864149
1211 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA395502360
rs1462195686
1213 P>L No ClinGen
gnomAD
RCV001351803
rs2069864656
1215 P>S No ClinVar
dbSNP
CA7998617
rs758185749
1216 G>E No ClinGen
ExAC
gnomAD
rs781689890
CA7998618
1217 T>I No ClinGen
ExAC
gnomAD
CA395502468
rs1250871499
1218 L>V No ClinGen
gnomAD
CA395502480
rs1417998961
1219 A>T No ClinGen
gnomAD
CA7998621
rs778089235
1220 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs749828384
CA7998622
1221 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA280401364
rs1017750956
1221 R>W No ClinGen
TOPMed
gnomAD
CA395502541
rs1170637562
1222 R>K No ClinGen
Ensembl
rs946432141
CA280401401
1223 S>A No ClinGen
Ensembl
CA7998624
rs774537800
1224 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7998625
rs759740148
1224 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA280401437
rs926076191
1225 T>I No ClinGen
TOPMed
rs772346371
CA7998626
1225 T>P No ClinGen
ExAC
gnomAD
rs926076191
CA395502604
1225 T>S No ClinGen
TOPMed
rs760416360
CA7998628
1226 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs199646401
CA7998629
RCV000881590
COSM1197379
1226 R>H lung [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs199646401
CA395502637
1226 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199646401
CA7998630
1226 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760416360
CA395502617
1226 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs764643777
CA7998632
1228 S>F No ClinGen
ExAC
gnomAD
rs757989465
CA7998634
1229 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7998633
rs3814882
1229 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA395502730
rs1480117741
1230 A>P No ClinGen
TOPMed
gnomAD
rs1480117741
CA395502736
1230 A>S No ClinGen
TOPMed
gnomAD
CA395502724
rs1480117741
1230 A>T No ClinGen
TOPMed
gnomAD
rs751276891
CA7998636
1231 L>R No ClinGen
ExAC
gnomAD
CA7998638
rs778236519
1232 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7998637
rs746405927
1232 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA280401493
rs746405927
1232 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA7998642
rs549071207
1233 P>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs549071207
CA7998641
1233 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7998640
rs549071207
1233 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA395502900
rs772164234
1234 W>* No ClinGen
ExAC
gnomAD
CA7998643
rs772164234
1234 W>C No ClinGen
ExAC
gnomAD
rs1289089269
CA395502946
1236 R>E No ClinGen
TOPMed
rs1289089269
CA395502944
1236 R>Q No ClinGen
TOPMed
rs1304961608
CA395502950
1236 R>S No ClinGen
gnomAD

No associated diseases with Q9UL54

3 regional properties for Q9UL54

Type Name Position InterPro Accession
domain Protein kinase domain 28 - 281 IPR000719
active_site Serine/threonine-protein kinase, active site 147 - 159 IPR008271
binding_site Protein kinase, ATP binding site 34 - 58 IPR017441

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasmic vesicle membrane ; Multi-pass membrane protein
  • Cytoplasm, cytoskeleton
  • Nucleus
  • Catalytically active full-length phosphorylated isoform 1 localizes to microtubules in the cytoplasm predominantly on microtubule cables positioned around the nucleus
  • A C-terminally truncated form of isoform 1 is present in the nucleus; isoform 2 and kinase-defective, as well as full-length isoform 1 are excluded from the nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

13 GO annotations of cellular component

Name Definition
actin cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
axonal growth cone The migrating motile tip of a growing nerve cell axon.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic vesicle A vesicle found in the cytoplasm of a cell.
cytoplasmic vesicle membrane The lipid bilayer surrounding a cytoplasmic vesicle.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendritic growth cone The migrating motile tip of a growing nerve cell dendrite.
integral component of membrane The component of a 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.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
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.
receptor complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

9 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
MAP kinase kinase kinase activity Catalysis of the phosphorylation and activation of a MAP kinase kinase; each MAP kinase kinase can be phosphorylated by any of several MAP kinase kinase kinases.
mitogen-activated protein kinase kinase binding Binding to a mitogen-activated protein kinase kinase, a protein that can phosphorylate a MAP kinase.
neuropilin binding Binding to a member of the neuropilin family.
protein serine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activator activity Binds to and increases the activity of a protein serine/threonine kinase.
protein serine/threonine kinase activity Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
tau protein binding Binding to tau protein. tau is a microtubule-associated protein, implicated in Alzheimer's disease, Down Syndrome and ALS.
tau-protein kinase activity Catalysis of the reaction: ATP + tau-protein = ADP + O-phospho-tau-protein.

25 GO annotations of biological process

Name Definition
actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
activation of protein kinase activity Any process that initiates the activity of an inactive protein kinase.
apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
axonogenesis De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells.
basal dendrite arborization The process in which the anatomical structures of a dendritic tree are generated on the basal neuron side and organized into dendritic branches.
basal dendrite morphogenesis The process in which the anatomical structures of a basal dendrite are generated and organized.
cell migration The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cellular response to DNA damage stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
focal adhesion assembly The aggregation and bonding together of a set of components to form a focal adhesion, a complex of intracellular signaling and structural proteins that provides a structural link between the internal actin cytoskeleton and the ECM, and also function as a locus of signal transduction activity.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
MAPK cascade An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
mitotic G2 DNA damage checkpoint signaling A mitotic cell cycle checkpoint that detects and negatively regulates progression through the G2/M transition of the cell cycle in response to DNA damage.
neuron projection morphogenesis The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites.
positive regulation of JNK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of MAPK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of protein autophosphorylation Any process that activates or increases the frequency, rate or extent of the phosphorylation by a protein of one or more of its own residues.
positive regulation of stress-activated MAPK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the stress-activated MAPK cascade.
protein autophosphorylation The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation The process of introducing a phosphate group on to a protein.
protein targeting to membrane The process of directing proteins towards a membrane, usually using signals contained within the protein.
regulation of actin cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of cell growth Any process that modulates the frequency, rate, extent or direction of cell growth.
regulation of cell shape Any process that modulates the surface configuration of a cell.
regulation of MAPK cascade Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade.
stress-activated MAPK cascade The series of molecular signals in which a stress-activated MAP kinase cascade relays a signal; MAP kinase cascades involve at least three protein kinase activities and culminate in the phosphorylation and activation of a MAP kinase.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MPAGGRAGSL KDPDVAELFF KDDPEKLFSD LREIGHGSFG AVYFARDVRN SEVVAIKKMS
70 80 90 100 110 120
YSGKQSNEKW QDIIKEVRFL QKLRHPNTIQ YRGCYLREHT AWLVMEYCLG SASDLLEVHK
130 140 150 160 170 180
KPLQEVEIAA VTHGALQGLA YLHSHNMIHR DVKAGNILLS EPGLVKLGDF GSASIMAPAN
190 200 210 220 230 240
SFVGTPYWMA PEVILAMDEG QYDGKVDVWS LGITCIELAE RKPPLFNMNA MSALYHIAQN
250 260 270 280 290 300
ESPVLQSGHW SEYFRNFVDS CLQKIPQDRP TSEVLLKHRF VLRERPPTVI MDLIQRTKDA
310 320 330 340 350 360
VRELDNLQYR KMKKILFQEA PNGPGAEAPE EEEEAEPYMH RAGTLTSLES SHSVPSMSIS
370 380 390 400 410 420
ASSQSSSVNS LADASDNEEE EEEEEEEEEE EEGPEAREMA MMQEGEHTVT SHSSIIHRLP
430 440 450 460 470 480
GSDNLYDDPY QPEITPSPLQ PPAAPAPTST TSSARRRAYC RNRDHFATIR TASLVSRQIQ
490 500 510 520 530 540
EHEQDSALRE QLSGYKRMRR QHQKQLLALE SRLRGEREEH SARLQRELEA QRAGFGAEAE
550 560 570 580 590 600
KLARRHQAIG EKEARAAQAE ERKFQQHILG QQKKELAALL EAQKRTYKLR KEQLKEELQE
610 620 630 640 650 660
NPSTPKREKA EWLLRQKEQL QQCQAEEEAG LLRRQRQYFE LQCRQYKRKM LLARHSLDQD
670 680 690 700 710 720
LLREDLNKKQ TQKDLECALL LRQHEATREL ELRQLQAVQR TRAELTRLQH QTELGNQLEY
730 740 750 760 770 780
NKRREQELRQ KHAAQVRQQP KSLKVRAGQR PPGLPLPIPG ALGPPNTGTP IEQQPCSPGQ
790 800 810 820 830 840
EAVLDQRMLG EEEEAVGERR ILGKEGATLE PKQQRILGEE SGAPSPSPQK HGSLVDEEVW
850 860 870 880 890 900
GLPEEIEELR VPSLVPQERS IVGQEEAGTW SLWGKEDESL LDEEFELGWV QGPALTPVPE
910 920 930 940 950 960
EEEEEEEGAP IGTPRDPGDG CPSPDIPPEP PPTHLRPCPA SQLPGLLSHG LLAGLSFAVG
970 980 990 1000 1010 1020
SSSGLLPLLL LLLLPLLAAQ GGGGLQAALL ALEVGLVGLG ASYLLLCTAL HLPSSLFLLL
1030 1040 1050 1060 1070 1080
AQGTALGAVL GLSWRRGLMG VPLGLGAAWL LAWPGLALPL VAMAAGGRWV RQQGPRVRRG
1090 1100 1110 1120 1130 1140
ISRLWLRVLL RLSPMAFRAL QGCGAVGDRG LFALYPKTNK DGFRSRLPVP GPRRRNPRTT
1150 1160 1170 1180 1190 1200
QHPLALLARV WVLCKGWNWR LARASQGLAS HLPPWAIHTL ASWGLLRGER PTRIPRLLPR
1210 1220 1230
SQRQLGPPAS RQPLPGTLAG RRSRTRQSRA LPPWR