Descriptions

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

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q6P158

Entry ID Method Resolution Chain Position Source
AF-Q6P158-F1 Predicted AlphaFoldDB

1283 variants for Q6P158

Variant ID(s) Position Change Description Diseaes Association Provenance
CA346348317
rs1262293760
2 S>N No ClinGen
gnomAD
TCGA novel 3 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765501981
CA1623735
6 R>G No ClinGen
ExAC
rs1405226344
CA346348289
6 R>S No ClinGen
gnomAD
CA1623734
rs762107645
7 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs754210493
CA1623733
10 K>R No ClinGen
ExAC
gnomAD
rs754210493
CA346348265
10 K>T No ClinGen
ExAC
gnomAD
rs569587971
CA45632746
11 P>T No ClinGen
1000Genomes
TOPMed
gnomAD
rs764626490
CA1623732
14 G>R No ClinGen
ExAC
gnomAD
rs776116114
CA1623730
15 G>S No ClinGen
ExAC
gnomAD
CA1623727
rs143894397
16 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1623728
rs143894397
16 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA45632692
rs1056169478
17 K>Q No ClinGen
TOPMed
CA346348109
rs1219871266
19 S>A No ClinGen
gnomAD
CA1623724
rs780870342
20 S>T No ClinGen
ExAC
gnomAD
CA346348083
rs1319867450
23 G>E No ClinGen
TOPMed
rs1273231500
CA346348078
24 R>K No ClinGen
gnomAD
CA346348065
rs1353696410
26 G>C No ClinGen
gnomAD
rs139832987
CA1623723
27 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA45632667
rs149444526
28 S>G No ClinGen
ESP
rs746891526
CA1623722
28 S>N No ClinGen
ExAC
gnomAD
CA1623719
rs750516749
30 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA1623720
rs750516749
30 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA45632652
rs969972159
31 S>R No ClinGen
gnomAD
rs1470599243
CA346347999
32 K>R No ClinGen
TOPMed
CA1623718
rs779045038
33 S>P No ClinGen
ExAC
gnomAD
CA346347978
rs754186230
34 H>L No ClinGen
ExAC
gnomAD
CA1623716
rs754186230
34 H>R No ClinGen
ExAC
gnomAD
CA1623717
rs771686044
34 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA1623715
rs150741789
35 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346347957
rs1391216126
36 S>I No ClinGen
gnomAD
rs1402264920
CA346347951
37 G>S No ClinGen
gnomAD
rs1190898602
CA346347939
38 G>S No ClinGen
gnomAD
CA1623712
rs369350519
39 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623713
rs369350519
39 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346347919
rs1403652000
40 G>A No ClinGen
gnomAD
rs764933005
CA346347914
41 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs148048184
CA346347910
41 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764933005
CA1623709
41 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs148048184
CA1623708
41 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623706
rs768334404
42 G>S No ClinGen
ExAC
gnomAD
rs1191180333
CA346347866
45 G>D No ClinGen
gnomAD
CA45632554
rs199910361
46 G>E No ClinGen
1000Genomes
rs1202774251
CA346347847
47 G>C No ClinGen
TOPMed
CA45632531
rs149129160
47 G>D No ClinGen
ESP
TOPMed
gnomAD
CA1623697
rs61757604
49 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1623696
rs772002792
50 N>H No ClinGen
ExAC
gnomAD
CA1623695
rs745912432
53 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs745912432
CA45632496
53 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs778990019
CA1623694
53 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA1623693
rs757379384
55 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA1623691
rs778112189
56 R>G No ClinGen
ExAC
gnomAD
rs369704731
CA1623690
56 R>S No ClinGen
ESP
ExAC
gnomAD
CA45632454
rs112320886
57 I>M No ClinGen
Ensembl
rs1572715161
CA346347735
58 W>R No ClinGen
Ensembl
CA1623689
rs753107126
59 D>H No ClinGen
ExAC
gnomAD
CA45632445
rs1007144645
59 D>V No ClinGen
TOPMed
gnomAD
rs755563209
CA1623687
60 D>G No ClinGen
ExAC
gnomAD
CA1623686
rs752159773
62 D>H No ClinGen
ExAC
gnomAD
rs1276956027
CA346347679
63 D>N No ClinGen
gnomAD
TCGA novel 64 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 64 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346347659
rs1207075515
65 C>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1623685
rs764806293
66 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1220812166
CA346347641
68 S>C No ClinGen
TOPMed
gnomAD
CA45632373
rs761455342
68 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA346347638
rs761455342
68 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA1623684
rs761455342
68 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs149091784
CA1623683
71 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201234797
CA1623682
72 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1290963826
CA346347612
72 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs751164015
CA45632349
73 P>S No ClinGen
ExAC
gnomAD
CA1623680
rs751164015
73 P>T No ClinGen
ExAC
gnomAD
rs1339880973
CA346347599
75 R>G No ClinGen
TOPMed
CA346346755
rs1572709037
76 P>S No ClinGen
Ensembl
CA346346748
rs1414329037
77 S>G No ClinGen
gnomAD
rs374670708
CA1623656
79 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623655
rs769813148
79 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA346346723
rs1191566328
80 N>S No ClinGen
gnomAD
CA346346716
rs1572708996
81 I>T No ClinGen
Ensembl
rs748368463
CA1623654
81 I>V No ClinGen
ExAC
CA1623653
rs35121369
82 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs546095244
CA1623652
82 S>N No ClinGen
1000Genomes
ExAC
gnomAD
rs747392970
CA346346709
82 S>R No ClinGen
ExAC
gnomAD
CA346346705
rs1465268572
83 K>* No ClinGen
gnomAD
rs1236237824
CA346346680
86 S>L No ClinGen
gnomAD
CA1623649
rs370897825
87 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs572177410
CA1623648
87 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1623646
rs755622713
88 P>A No ClinGen
ExAC
gnomAD
CA45628029
rs1011858742
90 W>L No ClinGen
TOPMed
gnomAD
CA1623645
rs752345342
93 K>T No ClinGen
ExAC
gnomAD
rs767167408
CA1623644
95 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs759257700
CA1623643
97 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA1623642
rs751383459
99 Q>E No ClinGen
ExAC
gnomAD
CA1623641
rs368279359
99 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346346582
rs1354815965
102 H>R No ClinGen
TOPMed
CA346346572
rs1558404714
103 M>I No ClinGen
Ensembl
CA1623639
rs773062925
103 M>L No ClinGen
ExAC
gnomAD
CA346346575
rs769910949
103 M>R No ClinGen
ExAC
gnomAD
CA1623638
rs769910949
103 M>T No ClinGen
ExAC
gnomAD
rs1245389569
CA346346566
104 T>I No ClinGen
TOPMed
rs1192770031
CA346346560
105 S>F No ClinGen
gnomAD
CA346346557
rs1285779616
106 E>K No ClinGen
TOPMed
rs762040974
CA1623636
107 N>S No ClinGen
ExAC
gnomAD
CA346346519
rs1485230898
111 V>L No ClinGen
gnomAD
CA346346490
rs1212624126
115 L>P No ClinGen
gnomAD
rs1256049812
CA346346493
115 L>V No ClinGen
gnomAD
CA1623634
rs114788980
116 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs535416668
CA1623632
116 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1623631
rs535416668
116 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1623633
rs535416668
116 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1623627
rs148085821
120 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346346457
rs1329210590
121 Q>E No ClinGen
gnomAD
CA1623626
rs780781252
122 D>G No ClinGen
ExAC
gnomAD
CA1623625
rs754644148
123 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs199537184
CA1623623
124 D>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346346417
rs1411484602
124 D>E No ClinGen
Ensembl
rs199537184
CA1623624
124 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346346390
rs1375059215
127 S>P No ClinGen
gnomAD
CA45626787
rs994684459
130 G>R No ClinGen
Ensembl
CA1623597
rs775770626
131 L>V No ClinGen
ExAC
gnomAD
rs1434684953
CA346346201
132 S>P No ClinGen
TOPMed
CA346346183
rs1298522120
133 G>A No ClinGen
TOPMed
rs1572707384
CA346346179
134 E>K No ClinGen
Ensembl
CA1623595
rs759902021
135 E>K No ClinGen
ExAC
gnomAD
CA1623594
rs373342926
137 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623592
rs749761049
138 D>H No ClinGen
ExAC
gnomAD
rs749761049
CA1623593
138 D>N No ClinGen
ExAC
gnomAD
CA1623591
rs773773866
138 D>V No ClinGen
ExAC
gnomAD
rs749761049
CA346346097
138 D>Y No ClinGen
ExAC
gnomAD
CA346346060
rs768140975
139 E>D No ClinGen
ExAC
gnomAD
rs779692343
CA1623588
140 P>L No ClinGen
ExAC
gnomAD
rs140614624
CA1623589
140 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA45626650
rs375185377
141 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA45626657
rs914879895
141 D>Y No ClinGen
Ensembl
TCGA novel 142 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346345993
rs1327785006
143 C>S No ClinGen
gnomAD
TCGA novel 144 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA45626637
rs972930206
144 N>S No ClinGen
TOPMed
CA1623585
rs778550993
145 D>N No ClinGen
ExAC
gnomAD
CA1623586
rs778550993
145 D>Y No ClinGen
ExAC
gnomAD
CA1623584
rs757161580
146 E>G No ClinGen
ExAC
gnomAD
rs777917420
CA346345930
147 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA346345925
rs145119195
147 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145119195
CA1623581
147 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777917420
CA1623582
147 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1196180050
CA346345881
149 W>C No ClinGen
TOPMed
CA45626620
rs962919319
150 P>S No ClinGen
TOPMed
rs145424124
CA1623580
151 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1212408090
CA346345854
152 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs767726679
CA1623579
152 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1212408090
CA346345850
152 G>V No ClinGen
gnomAD
CA1623578
rs759651476
153 Q>L No ClinGen
ExAC
gnomAD
rs1225478200
CA346345831
154 E>Q No ClinGen
gnomAD
CA346345808
rs1351595767
155 P>L No ClinGen
gnomAD
rs751844457
CA1623577
155 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA346345797
rs1456456226
156 S>C No ClinGen
TOPMed
CA346345789
rs1238092950
157 L>V No ClinGen
gnomAD
CA1623573
rs201714064
158 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201714064
CA1623572
158 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201714064
CA1623574
158 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1393627127
CA346345776
159 P>L No ClinGen
gnomAD
CA1623570
rs771662502
159 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs771662502
CA1623571
159 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA1623567
rs770839309
160 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs778778622
CA1623568
160 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA346345766
rs1302232095
161 L>V No ClinGen
gnomAD
rs577178168
CA1623565
162 D>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1445508076
CA346345735
163 P>A No ClinGen
TOPMed
gnomAD
CA1623564
rs777790436
165 E>G No ClinGen
ExAC
gnomAD
rs1397344498
CA346345711
165 E>K No ClinGen
gnomAD
rs1368423440
CA346345696
166 Y>N No ClinGen
Ensembl
CA1623562
rs752725032
167 A>T No ClinGen
ExAC
gnomAD
rs140135993
CA1623560
168 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766599238
CA1623558
170 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA346345347
rs1270375896
172 V>G No ClinGen
TOPMed
rs750816877
CA1623556
174 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 176 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346345312
rs1231732509
176 V>I No ClinGen
gnomAD
rs752422590
CA1623555
179 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1270656438
CA346345286
179 F>L No ClinGen
gnomAD
rs144153416
CA1623554
180 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759145881
CA1623551
181 V>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759145881
CA1623552
181 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA1623549
rs770716601
182 S>C No ClinGen
ExAC
gnomAD
rs774094291
CA1623550
182 S>P No ClinGen
ExAC
gnomAD
CA1623548
rs749039962
185 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA346345212
rs1434442757
186 V>L No ClinGen
gnomAD
rs1434442757
CA346345216
186 V>M No ClinGen
gnomAD
CA346345150
rs1456605244
190 S>F No ClinGen
TOPMed
rs748027998
CA1623545
190 S>P No ClinGen
ExAC
gnomAD
rs1283783635
CA346345076
191 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1180676430
CA346345139
191 R>T No ClinGen
gnomAD
rs1233300249
CA346345066
192 Y>C No ClinGen
gnomAD
CA45626101
rs375409811
194 F>L No ClinGen
ESP
TOPMed
TCGA novel 195 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346345023
rs1305695932
195 N>S No ClinGen
TOPMed
gnomAD
rs1267225871
CA346345006
196 T>I No ClinGen
TOPMed
CA1623528
rs182236510
197 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747987837
CA1623527
198 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1046657291
CA45626096
198 R>H No ClinGen
TOPMed
gnomAD
rs1192304257
CA346344974
199 C>R No ClinGen
TOPMed
rs776363433
CA1623526
199 C>S No ClinGen
ExAC
gnomAD
rs1373597155
CA346344960
200 Q>E No ClinGen
gnomAD
rs1440387785
CA346344947
200 Q>H No ClinGen
gnomAD
rs1300284787
CA346344954
200 Q>L No ClinGen
gnomAD
rs1300284787
CA346344950
200 Q>P No ClinGen
gnomAD
CA346344936
rs200740675
201 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA1623525
rs200740675
201 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs916750022
CA45626048
202 V>L No ClinGen
Ensembl
CA1623523
rs780085725
204 R>K No ClinGen
ExAC
gnomAD
rs1419909426
CA346344849
208 G>R No ClinGen
gnomAD
rs1158949250
CA346344832
209 D>G No ClinGen
TOPMed
CA1623521
rs746087210
210 V>G No ClinGen
ExAC
gnomAD
rs758514833
CA1623522
210 V>M No ClinGen
ExAC
gnomAD
rs1413096443
CA346344807
211 G>V No ClinGen
TOPMed
rs1214285644
CA346344804
212 A>T No ClinGen
gnomAD
rs1325512814
CA346344783
213 S>L No ClinGen
Ensembl
rs537984905
CA1623519
216 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1055189369
CA45625997
218 L>F No ClinGen
Ensembl
rs1319805510
CA346344724
219 T>I No ClinGen
TOPMed
CA346344729
rs1572706291
219 T>P No ClinGen
Ensembl
CA1623517
rs764471900
220 Q>E No ClinGen
ExAC
gnomAD
rs1308645261
CA346344688
224 E>D No ClinGen
gnomAD
rs756663308
CA1623516
226 F>C No ClinGen
ExAC
gnomAD
CA45625962
rs932823244
230 M>I No ClinGen
TOPMed
CA1623514
rs765980358
230 M>L No ClinGen
ExAC
gnomAD
rs372080425
CA1623513
230 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623512
rs144649956
231 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623511
rs764945860
232 I>T No ClinGen
ExAC
rs976902636
CA45625943
232 I>V No ClinGen
TOPMed
rs776506087
CA1623509
233 S>C No ClinGen
ExAC
gnomAD
CA1623507
rs760574218
236 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA1623504
rs745964375
237 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs772127644
CA1623505
237 N>Y No ClinGen
ExAC
gnomAD
rs778939120
CA346344581
241 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs1558403066
CA346344567
242 D>E No ClinGen
Ensembl
CA1623502
rs771220969
244 C>R No ClinGen
ExAC
gnomAD
CA1623500
rs375734126
245 M>T No ClinGen
ESP
ExAC
gnomAD
CA1623501
rs189877994
245 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1623498
rs753240888
246 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA1623499
rs753240888
246 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1623497
rs781767303
247 Q>R No ClinGen
ExAC
gnomAD
rs749978851
CA1623495
248 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs201534858
CA1623494
248 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1623493
rs761504403
249 Q>L No ClinGen
ExAC
gnomAD
CA346344520
rs1303246220
250 E>Q No ClinGen
gnomAD
rs763872946
CA1623491
251 E>D No ClinGen
ExAC
gnomAD
CA1623492
rs753474657
251 E>G No ClinGen
ExAC
gnomAD
rs1434333108
CA346344503
252 A>G No ClinGen
Ensembl
CA1623490
rs760522882
253 F>C No ClinGen
ExAC
gnomAD
TCGA novel 253 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346344492
rs1376234469
254 A>S No ClinGen
gnomAD
rs775351186
CA1623489
255 L>V No ClinGen
ExAC
gnomAD
rs35349461
CA1623488
256 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1558402962
CA346344471
257 S>F No ClinGen
Ensembl
rs759576493
CA1623487
259 C>G No ClinGen
ExAC
gnomAD
rs145044261
CA1623486
260 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623485
rs770952880
261 E>A No ClinGen
ExAC
gnomAD
CA346344447
rs770952880
261 E>G No ClinGen
ExAC
gnomAD
rs1163721033
CA346344432
263 F>C No ClinGen
TOPMed
rs201441649
CA1623484
263 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346344424
rs1257730554
264 I>M No ClinGen
gnomAD
rs141972132
CA1623483
264 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA45625698
rs954574206
265 E>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA346344416
rs1346222262
266 R>G No ClinGen
gnomAD
rs1407956539
CA346344411
266 R>S No ClinGen
TOPMed
rs1558402885
CA346344413
266 R>T No ClinGen
Ensembl
rs1255736638
CA346344408
267 I>V No ClinGen
gnomAD
CA45625687
rs867806568
268 Q>H No ClinGen
Ensembl
rs770222286
CA1623481
269 N>K No ClinGen
ExAC
gnomAD
CA346344391
rs1572705916
269 N>S No ClinGen
Ensembl
rs1309769748
CA346344385
270 R>T No ClinGen
gnomAD
rs748526985
CA1623480
271 V>I No ClinGen
ExAC
rs778685124
CA45625654
274 I>T No ClinGen
Ensembl
rs149007934
CA1623478
274 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1265579920
CA346344321
277 E>A No ClinGen
gnomAD
rs1355967454
CA346344311
278 L>M No ClinGen
TOPMed
rs1356376751
CA346344304
278 L>P No ClinGen
gnomAD
rs1294078359
CA346344278
280 Y>N No ClinGen
TOPMed
CA1623476
rs200212755
284 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA1623474
rs200944825
284 R>S No ClinGen
1000Genomes
ExAC
gnomAD
CA346344212
rs1171779916
285 F>L No ClinGen
gnomAD
rs763752195
CA1623473
286 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1623472
rs760398196
286 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA346344194
rs760398196
286 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA346344139
rs1189672947
289 K>M No ClinGen
gnomAD
rs1440053301
CA346344113
290 P>L No ClinGen
TOPMed
CA346344084
rs1484481718
292 E>* No ClinGen
gnomAD
CA346344089
rs1484481718
292 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1623470
rs767396580
293 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs1196693424
CA346344045
293 S>R No ClinGen
TOPMed
gnomAD
rs748980569
CA1623469
294 T>A No ClinGen
ExAC
gnomAD
CA346344026
rs1250089531
294 T>I No ClinGen
gnomAD
CA346344030
rs1250089531
294 T>S No ClinGen
gnomAD
rs140984413
CA1623468
295 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1623467
rs766465347
296 N>S No ClinGen
ExAC
gnomAD
rs1015926294
CA45625598
297 V>I No ClinGen
TOPMed
gnomAD
CA346343973
rs1015926294
297 V>L No ClinGen
TOPMed
gnomAD
rs773498363
CA1623465
298 Q>E No ClinGen
ExAC
gnomAD
rs183380757
CA45625573
298 Q>P No ClinGen
1000Genomes
TOPMed
rs770169180
CA1623464
300 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs191514463
CA1623463
302 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346343849
rs1391717510
306 K>Q No ClinGen
gnomAD
CA346343808
rs1339606667
308 Y>F No ClinGen
TOPMed
rs777112190
CA1623462
309 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs747546644
CA1623460
310 K>R No ClinGen
ExAC
gnomAD
rs780484174
CA1623459
311 G>V No ClinGen
ExAC
gnomAD
CA45625528
rs1025022989
312 N>S No ClinGen
Ensembl
rs368617816
CA1623458
313 C>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748755497
CA45625521
316 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA1623457
rs748755497
316 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1270813617
CA346343736
317 S>* No ClinGen
TOPMed
rs752400492
CA346343720
319 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA1623453
rs767291972
320 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1275191648
CA346343705
321 F>L No ClinGen
gnomAD
rs932944150
CA45625483
323 H>R No ClinGen
TOPMed
CA1623452
rs754783951
324 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1558402568
CA346343689
324 E>K No ClinGen
Ensembl
TCGA novel 326 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1623450
rs766229200
326 P>S No ClinGen
ExAC
gnomAD
rs375970776
CA1623447
328 N>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs375970776
CA1623445
328 N>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs375970776
CA1623446
328 N>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769053347
CA346343659
329 Q>* No ClinGen
ExAC
gnomAD
CA1623444
rs769053347
329 Q>E No ClinGen
ExAC
gnomAD
CA346343649
rs1395050102
330 I>T No ClinGen
gnomAD
rs1395818683
CA346343640
332 G>R No ClinGen
gnomAD
CA346343623
rs147595771
334 I>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147595771
CA1623443
334 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1623442
rs574535201
335 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA1623441
rs574535201
335 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1401247788
CA346343607
337 S>G No ClinGen
TOPMed
rs748785406
CA1623440
338 V>L No ClinGen
ExAC
rs898638146
CA45625355
340 D>V No ClinGen
gnomAD
CA346343580
rs1375205500
341 S>P No ClinGen
gnomAD
rs1037135080
CA45625331
342 H>R No ClinGen
Ensembl
CA346343567
rs1194349791
343 L>V No ClinGen
gnomAD
rs940058948
CA45625316
344 N>I No ClinGen
Ensembl
CA1623437
rs747781544
345 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1432758406
CA346343537
347 E>V No ClinGen
gnomAD
CA1623436
rs556369945
348 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1623434
rs751339701
351 F>S No ClinGen
ExAC
gnomAD
rs912570499
CA45625300
353 Y>C No ClinGen
Ensembl
CA1623433
rs766289334
354 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs758245241
CA346343487
355 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs758245241
CA1623432
355 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1231718000
CA346343466
358 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA1623431
rs537520504
358 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA346343454
rs1285008465
360 S>P No ClinGen
gnomAD
CA346343443
rs1324877962
361 K>N No ClinGen
TOPMed
rs1192955126
CA346343441
362 D>N No ClinGen
TOPMed
gnomAD
rs987240109
CA45625272
362 D>V No ClinGen
TOPMed
gnomAD
CA1623430
rs765403010
363 H>R No ClinGen
ExAC
gnomAD
TCGA novel 363 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs567888517
CA45625262
365 Y>C No ClinGen
Ensembl
rs376959260
CA1623429
368 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623428
rs376959260
368 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs932636837
CA45625243
370 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 370 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1623424
rs772539277
372 V>A No ClinGen
ExAC
gnomAD
rs551720980
CA1623425
372 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs760009745
CA1623423
373 A>V No ClinGen
ExAC
gnomAD
rs1196113159
CA346343352
375 Y>C No ClinGen
TOPMed
rs372479943
CA1623422
375 Y>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769232728
CA1623421
376 S>C No ClinGen
ExAC
gnomAD
rs769232728
CA45625174
376 S>F No ClinGen
ExAC
gnomAD
CA45625157
rs926667685
377 T>P No ClinGen
TOPMed
gnomAD
rs1477983361
CA346343336
378 N>I No ClinGen
TOPMed
gnomAD
CA346343334
rs1477983361
378 N>S No ClinGen
TOPMed
gnomAD
CA1623416
rs779680984
379 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA1623417
rs375889295
379 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623418
rs768213847
379 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA346343313
rs758280427
382 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA346343309
rs1282164654
382 P>L No ClinGen
TOPMed
gnomAD
CA1623415
rs758280427
382 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA1623413
rs533565495
384 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346343299
rs533565495
384 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346343294
rs1432208985
385 C>Y No ClinGen
gnomAD
rs757340903
CA1623412
386 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA1623411
rs754003710
386 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1237889649
CA346343273
388 H>Q No ClinGen
TOPMed
CA346343275
rs1377719471
388 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs966828827
CA45625058
389 I>F No ClinGen
TOPMed
gnomAD
rs966828827
CA346343270
389 I>V No ClinGen
TOPMed
gnomAD
CA45625051
rs769366240
392 F>Y No ClinGen
Ensembl
CA1623409
rs764330436
393 L>P No ClinGen
ExAC
gnomAD
CA346343217
rs1207592201
396 K>N No ClinGen
TOPMed
CA346343213
rs1169758218
397 A>D No ClinGen
gnomAD
CA1623408
rs760789150
397 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1169758218
CA346343211
397 A>V No ClinGen
gnomAD
CA346343205
CA1623407
rs753007218
398 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA1623406
rs199960627
399 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs747694353
CA1623405
399 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA346343188
rs774769962
401 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA1623404
rs774769962
401 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA346343176
rs1441777628
403 T>S No ClinGen
gnomAD
rs369485938
CA1623402
404 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1623400
rs548483658
406 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA1623399
rs746636149
407 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA1623396
rs745664385
408 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA1623397
rs745664385
408 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs11893062
VAR_052190
CA1623394
410 S>F No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs200152145
CA1623393
413 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs777687322
CA346343117
413 T>N No ClinGen
ExAC
gnomAD
CA1623392
rs777687322
413 T>S No ClinGen
ExAC
gnomAD
TCGA novel 414 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756287823
CA1623391
415 L>S No ClinGen
ExAC
gnomAD
CA1623390
rs752800097
416 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs1309602275
CA346343095
417 E>K No ClinGen
TOPMed
CA1623388
rs755293139
418 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs767781387
CA1623389
418 E>K No ClinGen
ExAC
TOPMed
rs779943066
CA45624857
419 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1224657255
CA346343073
420 E>G No ClinGen
TOPMed
rs766777001
CA1623386
422 V>I No ClinGen
ExAC
gnomAD
rs763417701
CA1623385
423 K>N No ClinGen
ExAC
gnomAD
CA45624806
rs372849913
423 K>R No ClinGen
Ensembl
CA1623383
rs758306533
426 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA346343033
rs1310072891
427 N>D No ClinGen
TOPMed
gnomAD
rs1310072891
CA346343034
427 N>H No ClinGen
TOPMed
gnomAD
rs1252385690
CA346343029
427 N>I No ClinGen
TOPMed
rs1227363200
CA346343026
428 T>A No ClinGen
gnomAD
CA346343025
rs1227363200
428 T>P No ClinGen
gnomAD
CA1623379
rs774254483
430 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs774254483
CA1623378
430 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs11124652
CA1623380
430 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623377
rs770896479
431 K>N No ClinGen
ExAC
gnomAD
rs534676110
CA1623374
432 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs534676110
CA1623375
432 Y>F No ClinGen
ExAC
gnomAD
CA45624718
rs750408030
432 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs750408030
CA1623376
432 Y>N No ClinGen
ExAC
TOPMed
gnomAD
VAR_033861
rs35371077
CA1623372
433 S>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs532486917
CA1623371
433 S>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1572704733
CA346342987
434 D>A No ClinGen
Ensembl
CA1623367
rs750828395
435 P>L No ClinGen
ExAC
gnomAD
CA1623368
rs758829319
435 P>S No ClinGen
ExAC
CA1623369
rs758829319
435 P>T No ClinGen
ExAC
rs765787089
CA1623366
436 P>S No ClinGen
ExAC
gnomAD
rs765787089
CA346342976
436 P>T No ClinGen
ExAC
gnomAD
CA346342967
rs1236121511
437 V>G No ClinGen
gnomAD
CA346342970
rs1437753174
437 V>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1437753174
CA346342972
437 V>M No ClinGen
gnomAD
CA346342965
rs1300281448
438 N>D No ClinGen
TOPMed
CA1623365
rs760054181
438 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA346342962
rs760054181
438 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA45624647
rs926692589
439 F>L No ClinGen
TOPMed
CA1623364
rs775095459
439 F>L No ClinGen
ExAC
gnomAD
rs767174053
CA1623363
441 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA45624646
rs925149668
441 P>S No ClinGen
TOPMed
gnomAD
CA346342938
rs1220458873
442 V>G No ClinGen
gnomAD
rs759239660
CA1623362
443 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1317125445
CA346342937
443 P>T No ClinGen
gnomAD
TCGA novel 444 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs540582868
CA1623361
444 S>P No ClinGen
1000Genomes
ExAC
gnomAD
CA1623360
rs770841483
445 R>K No ClinGen
ExAC
gnomAD
rs528501820
CA1623359
445 R>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1365660010
CA346342919
446 T>N No ClinGen
gnomAD
CA346342916
rs1292999256
447 R>G No ClinGen
gnomAD
CA45624550
rs369118297
448 I>L No ClinGen
ESP
rs1431764750
CA346342906
448 I>R No ClinGen
gnomAD
CA1623357
rs769804666
449 N>D No ClinGen
ExAC
gnomAD
CA1623355
rs781229451
451 P>S No ClinGen
ExAC
gnomAD
CA1623354
rs543609570
452 A>G No ClinGen
ExAC
gnomAD
CA346342879
rs543609570
452 A>V No ClinGen
ExAC
gnomAD
CA346342877
rs1205058513
453 C>R No ClinGen
TOPMed
CA45624503
rs150462026
453 C>Y No ClinGen
ESP
TOPMed
gnomAD
rs747227923
CA1623353
454 H>R No ClinGen
ExAC
gnomAD
rs780260183
CA1623352
455 K>E No ClinGen
ExAC
gnomAD
rs1190068505
CA346342856
456 T>A No ClinGen
gnomAD
rs1482127865
CA346342852
456 T>I No ClinGen
TOPMed
CA45624492
rs201298408
458 I>T No ClinGen
Ensembl
rs375882345
CA1623351
459 P>L No ClinGen
ESP
ExAC
gnomAD
TCGA novel 459 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375882345
CA346342835
459 P>R No ClinGen
ESP
ExAC
gnomAD
rs561305100
CA1623350
460 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs561305100
CA346342831
460 N>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346342814
rs1353484091
462 S>F No ClinGen
gnomAD
CA1623347
rs36035994
465 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1623346
rs36035994
465 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346342793
rs1418821870
466 N>I No ClinGen
TOPMed
rs961920916
CA45624447
466 N>Y No ClinGen
TOPMed
CA1623345
rs143424339
467 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1443960787
CA346342780
468 I>V No ClinGen
gnomAD
rs1382807848
CA346342770
469 P>L No ClinGen
gnomAD
CA1623344
rs112385789
469 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA346342760
rs1296635294
471 V>L No ClinGen
gnomAD
CA346342265
rs1477291349
472 E>K No ClinGen
gnomAD
CA1623322
rs750102277
475 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs765077550
CA1623321
477 S>A No ClinGen
ExAC
gnomAD
TCGA novel 477 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775222505
CA1623319
478 E>K No ClinGen
ExAC
gnomAD
rs113261999
CA45622999
480 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623318
rs113261999
480 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346342202
rs528277211
481 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1623316
rs528277211
481 D>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1623314
rs746086787
482 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs772091301
CA1623315
482 E>K No ClinGen
ExAC
gnomAD
rs771698836
CA346342176
485 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA1623312
rs771698836
485 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA1623311
rs749679881
486 P>A No ClinGen
ExAC
gnomAD
CA346342167
rs1328720888
487 A>P No ClinGen
gnomAD
CA346342146
rs1394546648
490 I>T No ClinGen
gnomAD
CA1623310
rs778388614
490 I>V No ClinGen
ExAC
gnomAD
rs145496216
CA1623309
491 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1623307
rs779605977
492 E>A No ClinGen
ExAC
gnomAD
rs757914387
CA1623306
492 E>D No ClinGen
ExAC
gnomAD
CA346342138
rs1368314736
492 E>K No ClinGen
gnomAD
CA346342134
rs779605977
492 E>V No ClinGen
ExAC
gnomAD
CA45622921
rs904189982
495 S>N No ClinGen
Ensembl
rs750027733
CA1623305
496 Y>C No ClinGen
ExAC
gnomAD
rs1318150997
CA346342098
497 V>A No ClinGen
TOPMed
rs200406223
CA1623304
498 N>S No ClinGen
ExAC
gnomAD
CA346342088
rs1292079593
499 L>I No ClinGen
gnomAD
CA346342089
rs1292079593
499 L>V No ClinGen
gnomAD
rs756997518
CA1623303
500 K>T No ClinGen
ExAC
gnomAD
rs1441799318
CA346342055
503 I>S No ClinGen
TOPMed
rs1355834195
CA346342052
504 S>P No ClinGen
gnomAD
rs753663924
CA1623302
505 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA346342021
rs1240550747
506 R>S No ClinGen
gnomAD
CA1623301
rs763915982
507 Y>C No ClinGen
ExAC
gnomAD
rs1009896060
CA45622898
509 W>R No ClinGen
Ensembl
rs1331246245
CA346341967
510 Q>* No ClinGen
gnomAD
CA1623299
rs775345978
512 K>E No ClinGen
ExAC
gnomAD
rs767628356
CA1623298
513 S>L No ClinGen
ExAC
gnomAD
rs542701551
CA1623297
515 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA1623295
rs771077385
517 E>G No ClinGen
ExAC
gnomAD
rs1158619440
CA346341847
519 G>C No ClinGen
gnomAD
TCGA novel 521 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346341793
rs1248537875
523 K>Q No ClinGen
gnomAD
rs1196761013
CA346341767
524 Q>H No ClinGen
gnomAD
rs374731216
CA45622839
526 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374731216
CA1623292
526 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs202217345
CA1623290
526 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1623289
rs757867759
527 M>V No ClinGen
ExAC
gnomAD
CA346341693
rs1489171322
529 Q>R No ClinGen
gnomAD
CA1623224
rs747887503
530 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs780839910
CA1623223
531 S>F No ClinGen
ExAC
gnomAD
rs754870859
CA1623222
533 Q>E No ClinGen
ExAC
gnomAD
rs1448222305
CA346341005
533 Q>L No ClinGen
TOPMed
gnomAD
CA346341006
rs1448222305
533 Q>R No ClinGen
TOPMed
gnomAD
CA1623221
rs751388843
534 F>L No ClinGen
ExAC
gnomAD
CA1623219
rs370877683
535 Q>P No ClinGen
ESP
TOPMed
gnomAD
CA346340984
rs1199936031
536 S>C No ClinGen
gnomAD
rs1199936031
CA346340985
536 S>Y No ClinGen
gnomAD
rs373391329
CA1623218
538 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623217
rs758505016
539 Q>* No ClinGen
ExAC
gnomAD
rs368734922
CA1623216
540 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1467055250
CA346340951
541 R>S No ClinGen
TOPMed
CA1623214
rs754086663
542 Q>K No ClinGen
ExAC
gnomAD
CA1623213
rs754147605
542 Q>L No ClinGen
ExAC
gnomAD
CA346340930
rs1572698581
545 P>S No ClinGen
Ensembl
rs1425672913
CA346340924
546 A>S No ClinGen
TOPMed
CA346340916
rs1434657187
547 W>S No ClinGen
TOPMed
CA1623211
rs761103993
549 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1464085117
CA346340878
552 T>S No ClinGen
gnomAD
CA1623209
rs201069292
553 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1407294874
CA346340868
554 L>V No ClinGen
gnomAD
CA1623205
rs372022899
558 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623204
rs201507310
558 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623206
rs372022899
558 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346340831
rs1456096235
559 K>N No ClinGen
gnomAD
CA45620787
rs541205155
560 H>Y No ClinGen
gnomAD
rs1001935488
CA45620764
564 V>A No ClinGen
TOPMed
gnomAD
CA45620750
rs373208023
565 I>L No ClinGen
Ensembl
rs970450508
CA45620746
566 S>N No ClinGen
TOPMed
gnomAD
CA1623179
rs749405908
574 T>N No ClinGen
ExAC
gnomAD
rs375216953
CA1623177
576 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1319813935
CA346353305
577 I>V No ClinGen
TOPMed
rs976094273
CA45655462
578 P>A No ClinGen
TOPMed
CA45655457
rs965657159
578 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 582 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1623171
rs761190327
583 D>G No ClinGen
ExAC
gnomAD
CA1623172
rs761190327
583 D>V No ClinGen
ExAC
gnomAD
rs763562531
CA1623169
584 D>V No ClinGen
ExAC
gnomAD
CA346353238
rs7598922
587 N>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_052191
rs7598922
CA1623167
587 N>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs771926728
CA1623166
588 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs140056476
CA1623165
589 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140056476
CA346353230
589 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774103711
CA1623164
590 P>S No ClinGen
ExAC
gnomAD
CA346353213
rs1279893674
591 E>D No ClinGen
TOPMed
gnomAD
rs1352048148
CA346353219
591 E>Q No ClinGen
TOPMed
rs1397857118
CA346353205
592 K>N No ClinGen
gnomAD
rs1305811128
CA346353208
592 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA1623163
rs770928732
593 V>A No ClinGen
ExAC
gnomAD
CA346353190
rs547706396
594 A>P No ClinGen
TOPMed
gnomAD
CA45655350
rs547706396
594 A>S No ClinGen
TOPMed
gnomAD
rs765153722
CA1623162
594 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1376322392
CA346353152
597 I>N No ClinGen
TOPMed
CA1623161
rs777884140
599 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA45655335
rs1034346749
599 T>S No ClinGen
Ensembl
CA45655333
rs974305327
602 R>* No ClinGen
TOPMed
gnomAD
rs1274227841
CA346353088
602 R>L No ClinGen
TOPMed
CA346353092
rs1274227841
602 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs184647075
CA1623160
603 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346353080
rs1465826030
603 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs781410537
CA1623158
604 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1373364682
CA346353073
604 I>V No ClinGen
gnomAD
rs1183010195
CA346353034
607 I>V No ClinGen
TOPMed
CA1623155
rs751985731
609 V>A No ClinGen
ExAC
gnomAD
CA45655319
rs539246388
610 A>T No ClinGen
Ensembl
CA1623154
rs201414410
612 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs141054985
CA1623153
612 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374119423
CA1623150
613 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374119423
CA1623151
613 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA346352946
rs1256456455
614 A>S No ClinGen
gnomAD
rs752339688
CA1623149
615 K>E No ClinGen
ExAC
gnomAD
rs1430062045
CA346352909
616 E>G No ClinGen
TOPMed
rs759235891
CA45655279
618 A>S No ClinGen
Ensembl
CA45655261
rs571716433
619 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA346352867
rs1572696780
619 E>V No ClinGen
Ensembl
CA346352861
rs1325710661
620 R>G No ClinGen
gnomAD
CA1623148
rs767300538
620 R>T No ClinGen
ExAC
gnomAD
rs759360545
CA346352848
621 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs759360545
CA1623147
621 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA45655235
rs1029692798
622 G>S No ClinGen
Ensembl
CA45655233
rs997235941
625 V>M No ClinGen
Ensembl
TCGA novel 625 V>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1623145
rs770678825
627 Y>* No ClinGen
ExAC
gnomAD
CA1623146
rs774160485
627 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 629 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346352755
rs1168173782
630 R>Q No ClinGen
TOPMed
gnomAD
rs762931293
CA1623144
630 R>W No ClinGen
ExAC
gnomAD
CA45655211
rs776445183
632 E>G No ClinGen
Ensembl
rs900455697
CA346352715
633 S>N No ClinGen
gnomAD
CA45655208
rs900455697
633 S>T No ClinGen
gnomAD
rs1369708646
CA346352704
634 V>F No ClinGen
TOPMed
rs1461158606
CA346352698
634 V>G No ClinGen
gnomAD
rs1369708646
CA346352707
634 V>I No ClinGen
TOPMed
CA346352515
rs1404454454
640 R>I No ClinGen
gnomAD
rs775731883
CA1623098
642 L>F No ClinGen
ExAC
gnomAD
rs1424542681
CA346352500
643 Y>H No ClinGen
TOPMed
gnomAD
rs772214060
CA1623097
644 C>G No ClinGen
ExAC
gnomAD
rs774830705
CA1623095
646 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1345532369
CA346352458
647 G>R No ClinGen
TOPMed
rs1442875871
CA346352441
648 V>A No ClinGen
gnomAD
CA346352416
rs1201191070
651 R>T No ClinGen
gnomAD
rs749804856
CA1623093
652 R>G No ClinGen
ExAC
gnomAD
CA346352362
rs1220058552
655 G>R No ClinGen
gnomAD
CA1623090
rs746535946
656 D>G No ClinGen
ExAC
rs934206326
CA45654177
657 T>I No ClinGen
TOPMed
gnomAD
CA45654179
rs934206326
657 T>R No ClinGen
TOPMed
gnomAD
CA1623088
rs370746417
658 A>G No ClinGen
ESP
ExAC
gnomAD
rs907914109
CA45654176
658 A>T No ClinGen
TOPMed
CA346352317
rs1342740308
659 L>V No ClinGen
gnomAD
CA45654147
rs901409167
660 Q>* No ClinGen
Ensembl
rs1285444805
CA346352275
662 V>D No ClinGen
TOPMed
CA1623086
rs61757605
662 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623085
rs757052058
664 H>D No ClinGen
ExAC
gnomAD
CA1623084
rs753716655
664 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA346352213
rs1417146503
667 V>A No ClinGen
gnomAD
rs377540147
CA1623082
668 D>E No ClinGen
ESP
ExAC
gnomAD
rs951999177
CA45654097
670 V>G No ClinGen
TOPMed
rs772875782
CA45654087
673 R>K No ClinGen
TOPMed
CA1623081
rs529991105
674 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs562694324
CA1623080
674 T>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1238250428
CA346352126
675 E>K No ClinGen
gnomAD
CA1623079
rs759815116
676 E>A No ClinGen
ExAC
gnomAD
CA346351966
rs1572685549
680 L>F No ClinGen
Ensembl
CA1623051
rs773431249
681 L>V No ClinGen
ExAC
gnomAD
rs150863527
CA1623049
683 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1623046
rs150769220
687 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1222149708
CA346351918
688 V>A No ClinGen
gnomAD
rs1393876290
CA346351911
689 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs770539412
CA1623043
690 Q>E No ClinGen
ExAC
gnomAD
CA45648991
rs796588774
692 P>R No ClinGen
Ensembl
rs1160667132
CA346351894
692 P>S No ClinGen
gnomAD
CA346351887
rs1247495801
693 G>A No ClinGen
TOPMed
CA346351889
rs1279413879
693 G>C No ClinGen
TOPMed
gnomAD
TCGA novel 693 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346351891
rs1279413879
693 G>S No ClinGen
TOPMed
gnomAD
TCGA novel 694 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1341359106
CA346351869
696 V>A No ClinGen
TOPMed
rs768026917
CA1623041
696 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA1623039
rs747966382
697 I>V No ClinGen
ExAC
gnomAD
TCGA novel 701 A>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA45648954
rs776927183
701 A>T No ClinGen
Ensembl
CA45648948
rs939356208
702 T>I No ClinGen
TOPMed
gnomAD
rs755071592
CA1623037
703 L>P No ClinGen
ExAC
gnomAD
CA1623035
rs766619040
705 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1257081151
CA346351798
707 L>H No ClinGen
TOPMed
CA346351789
rs1446569720
708 F>L No ClinGen
TOPMed
rs750725254
CA1623033
709 S>P No ClinGen
ExAC
gnomAD
TCGA novel 709 S>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776952163
CA1623030
710 D>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762253917
CA1623031
710 D>Y No ClinGen
ExAC
gnomAD
CA346351773
rs1238150703
711 Y>C No ClinGen
gnomAD
CA346351775
rs1485786818
711 Y>N No ClinGen
gnomAD
rs1238150703
CA346351772
711 Y>S No ClinGen
gnomAD
rs1205602247
CA346351767
712 F>V No ClinGen
gnomAD
rs764615458
CA1623029
713 N>D No ClinGen
ExAC
gnomAD
rs1262810702
CA346351756
713 N>I No ClinGen
gnomAD
rs1219465694
CA346351750
714 S>F No ClinGen
gnomAD
CA346351736
rs1216240355
716 P>R No ClinGen
gnomAD
CA1623026
rs140910356
717 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748884511
CA1623025
719 T>I No ClinGen
ExAC
gnomAD
rs1262509172
CA346351721
719 T>S No ClinGen
gnomAD
CA45648889
rs770282538
720 I>L No ClinGen
Ensembl
rs1173009040
CA346351711
720 I>M No ClinGen
TOPMed
rs1302950958
CA346351713
720 I>T No ClinGen
gnomAD
CA346351706
rs1454152535
721 P>L No ClinGen
gnomAD
CA346351708
rs1376235140
721 P>S No ClinGen
TOPMed
CA1623024
rs772920040
722 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762534427
CA1623008
723 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772689230
CA1623007
723 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747806873
CA1623006
724 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA1623005
rs747806873
724 T>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 725 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1623004
rs776558067
725 F>L No ClinGen
ExAC
gnomAD
rs768643592
CA1623003
726 P>L No ClinGen
ExAC
gnomAD
rs746877485
CA1623002
727 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA346351658
rs1384701941
728 D>G No ClinGen
gnomAD
CA1623001
rs780154525
729 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1381238333
CA346351640
730 F>L No ClinGen
gnomAD
rs749610132 732 L>W Variant assessed as Somatic; 9.41e-05 impact. [NCI-TCGA] No NCI-TCGA
rs778898367
CA1622996
733 E>K No ClinGen
ExAC
gnomAD
CA1622995
rs757611370
735 A>G No ClinGen
ExAC
gnomAD
CA45647921
rs991117219
736 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 737 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1357114852
CA346351583
739 T>I No ClinGen
gnomAD
rs754064606
CA1622994
740 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs778102683
CA1622993
740 R>K No ClinGen
ExAC
gnomAD
rs778102683
CA346351578
740 R>M No ClinGen
ExAC
gnomAD
CA45645797
rs551003223
740 R>S No ClinGen
Ensembl
rs778102683
CA346351579
740 R>T No ClinGen
ExAC
gnomAD
CA346351562
rs1264161643
741 Y>C No ClinGen
gnomAD
rs761247318
CA1622968
743 L>* No ClinGen
ExAC
gnomAD
CA346351540
rs1259083461
744 Q>H No ClinGen
gnomAD
CA1622966
rs763873864
744 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA1622965
rs538914721
744 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs1488225395
CA346351536
745 D>G No ClinGen
gnomAD
CA346351522
rs1264671525
747 S>T No ClinGen
gnomAD
rs145470008
CA1622963
748 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1622961
rs759509888
749 Y>C No ClinGen
ExAC
gnomAD
rs374756219
CA1622960
750 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768628631
CA45645751
751 R>L No ClinGen
ExAC
gnomAD
rs768628631
CA1622958
751 R>Q No ClinGen
ExAC
gnomAD
CA1622959
rs140333800
751 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA346351488
rs1453538912
753 M>V No ClinGen
gnomAD
TCGA novel 754 K>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA45645749
rs543662055
755 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1622956
rs769983238
756 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA1622955
rs748428254
758 K>T No ClinGen
ExAC
rs781616603
CA1622954
759 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA1622953
rs576017775
761 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1622952
rs747497239
762 K>R No ClinGen
ExAC
gnomAD
rs539183345
CA1622951
763 A>P No ClinGen
1000Genomes
ExAC
gnomAD
rs539183345
CA1622950
763 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA1622949
rs753369582
764 R>K No ClinGen
ExAC
gnomAD
rs145593757
CA1622946
765 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1622945
rs145593757
765 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372550788
CA1622948
765 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs759263103
CA1622944
767 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA1622943
rs774294850
769 A>V No ClinGen
ExAC
gnomAD
rs766257650
CA1622942
770 F>V No ClinGen
ExAC
gnomAD
CA346351364
rs1216647720
772 E>A No ClinGen
gnomAD
rs762916338
CA1622941
773 V>A No ClinGen
ExAC
gnomAD
CA346351359
rs1337834099
773 V>M No ClinGen
gnomAD
rs1385096038
CA346351352
774 E>* No ClinGen
gnomAD
CA346351350
rs1211654231
774 E>G No ClinGen
TOPMed
rs1334718604
CA346351337
776 D>H No ClinGen
gnomAD
CA45645694
CA45645695
rs964816081
778 R>S No ClinGen
TOPMed
CA1622939
rs769930204
778 R>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 779 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA45645690
rs1017306327
780 S>C No ClinGen
Ensembl
CA45645670
rs1017306327
780 S>F No ClinGen
Ensembl
CA346351314
rs1331098164
780 S>P No ClinGen
gnomAD
rs1331098164
CA346351315
780 S>T No ClinGen
gnomAD
rs144570908
CA1622938
781 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346351290
rs1469012348
784 Q>* No ClinGen
Ensembl
CA1622937
rs147262119
786 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1004526810
CA45645645
787 D>H No ClinGen
TOPMed
gnomAD
rs1004526810
CA346351269
787 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA346351245
rs1386569846
790 K>I No ClinGen
gnomAD
rs1324468585
CA346351229
792 A>V No ClinGen
gnomAD
rs1443676563
CA346351217
794 P>L No ClinGen
gnomAD
rs769020677
CA1622936
797 Q>R No ClinGen
ExAC
gnomAD
rs747367877
CA1622935
798 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs200312402
CA45645643
798 L>I No ClinGen
Ensembl
CA1622934
rs780511045
799 D>H No ClinGen
ExAC
gnomAD
CA346351148
rs758954483
804 L>P No ClinGen
ExAC
gnomAD
CA1622933
rs758954483
804 L>Q No ClinGen
ExAC
gnomAD
CA1622931
rs145590165
806 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1622932
rs145590165
806 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1313052582
CA346351140
806 R>H No ClinGen
TOPMed
gnomAD
CA45645599
rs747186753
807 Y>C No ClinGen
TOPMed
rs904110004
CA45645589
809 G>W No ClinGen
TOPMed
CA1622905
rs189715404
810 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779759078
CA1622904
811 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA45642518
rs975326939
813 S>A No ClinGen
TOPMed
CA1622902
rs750311248
814 V>D No ClinGen
ExAC
gnomAD
rs765194812
CA1622901
815 I>M No ClinGen
ExAC
gnomAD
CA346351059
rs1226080190
817 T>A No ClinGen
gnomAD
CA346351057
rs1363833380
817 T>I No ClinGen
gnomAD
CA1622900
rs761854021
818 M>V No ClinGen
ExAC
gnomAD
rs764295437
CA1622898
820 I>F No ClinGen
ExAC
gnomAD
CA346351038
rs1403390010
820 I>T No ClinGen
gnomAD
rs764295437
CA1622899
820 I>V No ClinGen
ExAC
gnomAD
rs760801259
CA1622897
821 M>I No ClinGen
ExAC
gnomAD
CA346351030
rs1235815768
821 M>T No ClinGen
TOPMed
CA346351034
rs1558382050
821 M>V No ClinGen
Ensembl
CA1622896
rs371342665
823 F>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346351006
rs1399165877
824 E>D No ClinGen
gnomAD
TCGA novel 824 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1622895
rs140051981
826 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1299102873
CA346350990
827 N>D No ClinGen
gnomAD
CA346350975
rs1365368416
829 E>* No ClinGen
TOPMed
rs151227417
CA346350951
832 E>G No ClinGen
1000Genomes
TOPMed
gnomAD
rs151227417
CA45642493
832 E>V No ClinGen
1000Genomes
TOPMed
gnomAD
CA346350948
rs1185454637
833 A>T No ClinGen
gnomAD
CA346350933
rs1255798535
835 L>* No ClinGen
gnomAD
CA346350913
rs1480875415
837 W>C No ClinGen
gnomAD
rs1434281378
CA346350906
838 I>S No ClinGen
gnomAD
rs1434281378
CA346350907
838 I>T No ClinGen
gnomAD
rs1252778396
CA346350903
839 V>L No ClinGen
gnomAD
CA1622891
rs545001600
840 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1622890
rs545001600
840 D>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346350888
rs1329474053
841 G>A No ClinGen
TOPMed
rs1376211853
CA346350882
842 K>R No ClinGen
TOPMed
rs964923837
CA45642476
843 H>N No ClinGen
TOPMed
CA346350877
rs964923837
843 H>Y No ClinGen
TOPMed
rs185401248
CA346350870
844 S>A No ClinGen
1000Genomes
gnomAD
CA346350867
rs1309814769
844 S>F No ClinGen
TOPMed
CA45642475
rs185401248
844 S>T No ClinGen
1000Genomes
gnomAD
rs771624089
CA45642451
847 P>L No ClinGen
gnomAD
rs773824195
CA45636427
849 A>G No ClinGen
TOPMed
rs1455567479
CA346350112
849 A>T No ClinGen
gnomAD
rs773824195
CA45636426
849 A>V No ClinGen
TOPMed
CA346350108
rs1362321176
850 I>V No ClinGen
gnomAD
rs766823026
CA1622874
851 L>R No ClinGen
ExAC
CA346350097
rs1431759461
852 V>I No ClinGen
TOPMed
CA1622873
rs763304580
854 L>V No ClinGen
ExAC
gnomAD
rs773785157
CA1622872
855 P>R No ClinGen
ExAC
gnomAD
CA346350075
rs1472173225
855 P>S No ClinGen
gnomAD
rs1455797610
CA346350068
856 G>V No ClinGen
TOPMed
rs1252327870
CA346350063
857 L>P No ClinGen
gnomAD
CA346350036
rs1449750181
861 K>R No ClinGen
gnomAD
rs932027309
CA346350029
862 M>K No ClinGen
TOPMed
gnomAD
CA45636414
rs932027309
862 M>T No ClinGen
TOPMed
gnomAD
CA346350000
rs1486551123
866 Q>* No ClinGen
gnomAD
CA346349998
rs1433578049
866 Q>R No ClinGen
TOPMed
rs775025344
CA1622869
868 Q>E No ClinGen
ExAC
gnomAD
CA1622868
rs771694437
871 S>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs745581093
CA1622867
872 L>V No ClinGen
ExAC
gnomAD
CA1622866
rs371267292
873 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1330989391
CA346349955
873 F>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1622865
rs757076276
875 N>K No ClinGen
ExAC
gnomAD
rs1367444578
CA346349932
876 R>K No ClinGen
TOPMed
rs777784063
CA1622864
877 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA1622863
rs777784063
877 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs373304739
CA1622862
877 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752793457
CA1622861
878 S>N No ClinGen
ExAC
gnomAD
TCGA novel 879 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1622859
rs755236995
879 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA346349911
rs965943997
880 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1193792866
CA346349909
880 R>Q No ClinGen
gnomAD
rs1338066085
CA346349473
881 C>R No ClinGen
TOPMed
gnomAD
rs777468670
CA1622846
882 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs756056164
CA1622845
883 I>T No ClinGen
ExAC
gnomAD
CA346349460
rs1414938922
883 I>V No ClinGen
TOPMed
rs779825210
CA45635349
885 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs779825210
CA1622844
885 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs779825210
CA346349444
885 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA1622842
rs755124438
889 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA45635344
rs913864601
889 S>P No ClinGen
gnomAD
rs989143086
CA346349397
891 S>F No ClinGen
gnomAD
CA346349405
rs1246869642
891 S>P No ClinGen
gnomAD
rs989143086
CA45635332
891 S>Y No ClinGen
gnomAD
rs139478841
CA1622839
892 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs912179688
CA346349360
894 E>K No ClinGen
TOPMed
gnomAD
CA45635323
rs912179688
894 E>Q No ClinGen
TOPMed
gnomAD
rs1368672693
CA346349314
897 A>G No ClinGen
gnomAD
rs762305779
CA1622837
897 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs762305779
CA1622836
897 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA346349306
rs1424810336
898 V>L No ClinGen
gnomAD
rs1572647761
CA346349258
901 K>N No ClinGen
Ensembl
CA346349246
rs1221434729
902 P>L No ClinGen
TOPMed
CA45635318
rs934846338
902 P>S No ClinGen
TOPMed
gnomAD
rs766952788
CA1622834
903 P>L No ClinGen
ExAC
gnomAD
rs1488168656
CA346349225
904 A>V No ClinGen
TOPMed
CA1622833
rs137955748
907 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1233837044
CA346349180
908 K>R No ClinGen
gnomAD
rs375191136
CA1622832
909 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1622831
rs770583366
910 I>V No ClinGen
ExAC
gnomAD
rs981302378
CA45635303
911 I>S No ClinGen
Ensembl
rs1251806938
CA346349130
912 S>F No ClinGen
gnomAD
rs773044904
CA1622828
917 E>G No ClinGen
ExAC
gnomAD
rs867740242
CA45635296
920 I>V No ClinGen
Ensembl
rs1227985383
CA346349013
922 I>L No ClinGen
gnomAD
CA1622826
rs748042609
923 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs768817265
CA1622824
924 D>E No ClinGen
ExAC
gnomAD
CA45635275
rs371578357
924 D>G No ClinGen
Ensembl
rs781303042
CA1622825
924 D>N No ClinGen
ExAC
gnomAD
rs747055396
CA1622823
925 V>A No ClinGen
ExAC
gnomAD
CA346348971
rs747055396
925 V>D No ClinGen
ExAC
gnomAD
rs541175907
CA1622821
926 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs541175907
CA1622822
926 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA346348951
rs1351130116
927 Y>C No ClinGen
TOPMed
gnomAD
TCGA novel 927 Y>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750680865
CA1622820
928 V>I No ClinGen
ExAC
gnomAD
rs779273882
CA1622819
929 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA346348920
rs1182588999
930 D>N No ClinGen
gnomAD
rs979308867
CA45635236
934 M>R No ClinGen
TOPMed
gnomAD
CA1622817
rs754292130
937 K>N No ClinGen
ExAC
gnomAD
CA346348807
rs1411610888
938 R>I No ClinGen
gnomAD
CA346348768
rs199924545
940 D>E No ClinGen
1000Genomes
TOPMed
gnomAD
CA1622797
rs756599449
940 D>N No ClinGen
ExAC
gnomAD
rs1207071869
CA346348763
941 A>D No ClinGen
gnomAD
CA346348755
rs1464573473
942 S>N No ClinGen
gnomAD
CA346348753
rs1202880753
942 S>R No ClinGen
gnomAD
CA346348748
rs1267292405
943 K>R No ClinGen
gnomAD
CA346348740
rs1210604855
944 G>A No ClinGen
gnomAD
rs1210604855
CA346348739
944 G>V No ClinGen
gnomAD
CA1622795
rs765846506
947 S>N No ClinGen
ExAC
gnomAD
CA346348714
rs1218507207
948 L>V No ClinGen
gnomAD
CA45634884
rs761631988
950 D>N No ClinGen
TOPMed
gnomAD
CA346348700
rs761631988
950 D>Y No ClinGen
TOPMed
gnomAD
CA1622793
rs750054518
951 T>P No ClinGen
ExAC
gnomAD
rs201583373
CA1622792
952 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 954 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1359560963
CA346348668
955 Q>* No ClinGen
TOPMed
CA1622790
rs761607666
956 A>G No ClinGen
ExAC
gnomAD
CA1622787
rs760596871
959 L>V No ClinGen
ExAC
gnomAD
CA346348620
rs1392124370
962 K>R No ClinGen
gnomAD
rs1261867681
CA346348613
963 G>D No ClinGen
gnomAD
CA1622785
rs199895785
964 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1622784
rs567818287
964 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1484115497
CA346348597
966 G>A No ClinGen
gnomAD
CA346348601
rs1183814169
966 G>S No ClinGen
gnomAD
CA346348595
rs1253966765
967 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA346348592
rs1209368605
967 R>H No ClinGen
gnomAD
rs1011426036
CA45634860
969 A>V No ClinGen
TOPMed
gnomAD
CA1622782
rs771116019
970 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs771116019
CA346348574
970 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA346348577
rs1237740763
970 S>P No ClinGen
TOPMed
rs963833028
CA45634833
973 C>W No ClinGen
TOPMed
rs1263832343
CA346348522
978 T>A No ClinGen
TOPMed
rs748629795
CA1622778
980 H>R No ClinGen
ExAC
gnomAD
CA346348502
rs1191807435
981 H>N No ClinGen
TOPMed
CA1622777
rs781582490
982 Y>N No ClinGen
ExAC
TOPMed
gnomAD
CA1622775
rs749881593
983 N>K No ClinGen
ExAC
gnomAD
rs1385869485
CA346348483
983 N>S No ClinGen
gnomAD
rs764899962
CA1622774
984 H>Q No ClinGen
ExAC
gnomAD
rs1253859289
CA346348467
985 Q>H No ClinGen
TOPMed
gnomAD
CA346348464
rs1181110622
986 L>F No ClinGen
gnomAD
rs756968066
CA1622773
988 K>N No ClinGen
ExAC
gnomAD
rs1253959108
CA346348434
990 Q>R No ClinGen
gnomAD
rs763927385
CA1622772
996 R>K No ClinGen
ExAC
gnomAD
CA1622771
rs763927385
996 R>T No ClinGen
ExAC
gnomAD
rs760412234
CA1622770
998 P>L No ClinGen
ExAC
gnomAD
CA346348366
rs1246562522
1000 E>D No ClinGen
gnomAD
CA346348357
rs1319509211
1001 Q>H No ClinGen
gnomAD
CA1622767
rs531043285
1002 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs774398421
CA1622765
1005 R>K No ClinGen
ExAC
gnomAD
rs1156634639
CA346347579
1006 I>V No ClinGen
gnomAD
TCGA novel 1008 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762154221
CA1622738
1009 L>S No ClinGen
ExAC
gnomAD
CA1622737
rs776856091
1010 E>K No ClinGen
ExAC
gnomAD
rs1430956079
CA346347519
1011 M>I No ClinGen
gnomAD
rs926431638
CA45629831
1011 M>K No ClinGen
TOPMed
gnomAD
rs1397717537
CA346347525
1011 M>L No ClinGen
TOPMed
rs1397717537
CA346347527
1011 M>V No ClinGen
TOPMed
rs769072081
CA1622736
1013 S>C No ClinGen
ExAC
CA346347484
rs1241191887
1014 A>G No ClinGen
TOPMed
gnomAD
rs142332924
CA1622735
1014 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346347482
rs1241191887
1014 A>V No ClinGen
TOPMed
gnomAD
rs770528775
CA1622733
1015 H>Y No ClinGen
ExAC
gnomAD
rs1345978811
CA346347462
1016 N>S No ClinGen
TOPMed
rs1572642990
CA346347454
1017 L>F No ClinGen
Ensembl
rs116823078
CA1622732
1018 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777387845
CA1622731
1020 V>M No ClinGen
ExAC
gnomAD
rs140005514
CA1622728
1023 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1622729
rs149818203
1023 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346347362
rs1404404825
1027 P>H No ClinGen
TOPMed
CA346347360
rs1404404825
1027 P>L No ClinGen
TOPMed
CA1622727
rs139092761
1027 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1437584797
CA346347348
1029 H>N No ClinGen
gnomAD
rs1363336822
CA346347343
1029 H>P No ClinGen
gnomAD
rs373553409
CA1622725
1030 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750490531
CA346347327
1031 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA1622723
rs750490531
1031 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs765426352
CA1622722
1033 L>F No ClinGen
ExAC
gnomAD
rs865861806
CA45629781
1034 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA1622721
rs146225438
1034 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146225438
CA346347293
1034 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346347278
rs1377710584
1036 S>A No ClinGen
TOPMed
rs1450774084
CA346347248
1039 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1435617703
CA346347242
1039 R>Q No ClinGen
TOPMed
CA346347236
rs1245879577
1040 L>S No ClinGen
gnomAD
CA1622718
rs143143351
1041 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs776033435
CA346347227
1041 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs776033435
CA1622717
1041 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs772679797
CA1622716
1042 D>G No ClinGen
ExAC
gnomAD
rs1033101981
CA45629760
1042 D>H No ClinGen
gnomAD
CA346347201
CA1622715
rs746432217
1044 G>R No ClinGen
ExAC
gnomAD
TCGA novel 1045 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780919884
CA1622711
1049 D>H No ClinGen
ExAC
gnomAD
CA346347113
rs1340871481
1052 L>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1622709
rs746784795
1053 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA1622707
rs367699807
1054 P>T No ClinGen
ESP
ExAC
gnomAD
TCGA novel 1055 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750379766
CA1622706
1056 G>E No ClinGen
ExAC
gnomAD
CA1622704
rs757382878
1059 L>F No ClinGen
ExAC
CA346347045
rs1260701271
1059 L>V No ClinGen
TOPMed
CA1622703
rs753971820
1060 A>D No ClinGen
ExAC
gnomAD
CA346347029
rs753971820
1060 A>G No ClinGen
ExAC
gnomAD
CA346347026
rs1330408438
1061 S>P No ClinGen
TOPMed
CA1622702
rs764384767
1062 L>M No ClinGen
ExAC
gnomAD
rs1239608459
CA346347015
1062 L>P No ClinGen
gnomAD
rs149500475
CA1622700
1064 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA346346949
rs1482116826
1069 G>D No ClinGen
gnomAD
TCGA novel 1072 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346346917
rs1179029713
1073 L>F No ClinGen
TOPMed
CA346346912
rs1358789439
1074 F>S No ClinGen
gnomAD
rs747724087
CA1622695
1075 G>A No ClinGen
ExAC
gnomAD
CA1622696
rs769135704
1075 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA346346901
rs1308569448
1076 S>C No ClinGen
TOPMed
gnomAD
rs1308569448
CA346346900
1076 S>F No ClinGen
TOPMed
gnomAD
rs776044837
CA1622694
1078 F>V No ClinGen
ExAC
gnomAD
CA1622693
rs772949216
1079 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA45629504
rs539720747
1079 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1622692
rs539720747
1079 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1392053035
CA346346854
1083 P>R No ClinGen
TOPMed
rs1572642529
CA346346858
1083 P>T No ClinGen
Ensembl
rs777799902
CA1622691
1084 A>P No ClinGen
ExAC
gnomAD
rs777799902
CA1622690
1084 A>T No ClinGen
ExAC
gnomAD
CA1622688
rs150390945
1085 L>I No ClinGen
ESP
ExAC
rs1457186809
CA346346842
1086 T>A No ClinGen
TOPMed
CA1622687
rs565706584
1086 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1457186809
CA346346843
1086 T>P No ClinGen
TOPMed
rs565706584
CA1622686
1086 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756397720
CA1622684
1087 I>T No ClinGen
ExAC
gnomAD
CA1622683
rs547584255
1090 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1558367889
CA346346820
1090 S>R No ClinGen
Ensembl
CA346346818
rs547584255
1090 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs140511227
CA45629483
1094 K>* No ClinGen
ESP
CA45629475
rs980802459
1095 S>F No ClinGen
TOPMed
gnomAD
rs759965433
CA1622681
1096 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA1622679
rs149658996
1097 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346346293
rs1272533376
1098 V>L No ClinGen
gnomAD
CA1622658
rs763451408
1106 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs770136975 1106 E>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs766720394
CA1622659
1106 E>Q No ClinGen
ExAC
gnomAD
rs750943681
CA1622657
1107 A>V No ClinGen
ExAC
CA45626357
rs898571394
1108 N>K No ClinGen
Ensembl
rs763548572
CA1622655
1109 Q>E No ClinGen
ExAC
gnomAD
rs1297806566
CA346346114
1110 K>* No ClinGen
Ensembl
CA1622654
rs563431328
1112 L>V No ClinGen
1000Genomes
ExAC
gnomAD
rs372962315
CA1622651
1115 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs927526923
CA45626331
1116 F>I No ClinGen
TOPMed
CA346345975
rs370522012
1117 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370522012
CA1622649
1117 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs940013201
CA45626313
1118 N>D No ClinGen
Ensembl
rs981602988
CA45626312
1119 S>G No ClinGen
TOPMed
rs777874243
CA1622647
1122 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs777874243
CA346345879
1122 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA45626288
rs907787793
1124 L>F No ClinGen
gnomAD
CA1622646
rs769953389
1125 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs865951576
CA45626261
1126 Q>* No ClinGen
Ensembl
rs748208040
CA1622645
1127 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs748208040
CA45626254
1127 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs375890790
CA1622644
1127 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA346345814
rs1233005452
1128 Y>C No ClinGen
gnomAD
rs1240128300
CA346345805
1129 K>E No ClinGen
TOPMed
CA346345754
rs1461526563
1130 G>R No ClinGen
gnomAD
CA1622621
rs147441334
1132 Q>* No ClinGen
ESP
ExAC
gnomAD
rs369967213
CA1622620
1138 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200962138
CA1622618
1139 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA1622617
rs757753529
1140 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA1622616
rs138902985
1140 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs138902985
CA346345635
1140 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1622615
rs569789651
1141 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA1622614
rs569789651
1141 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA1622613
rs751181848
1142 S>G No ClinGen
ExAC
gnomAD
rs1193618215
CA346345619
1143 Y>C No ClinGen
gnomAD
CA346345614
rs1238203922
1144 N>H No ClinGen
TOPMed
rs148925710
CA1622612
1144 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141371788
CA1622611
1145 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1146 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1333162087
CA346345593
1147 R>G No ClinGen
gnomAD
TCGA novel 1150 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1412865021
CA346345568
1150 F>V No ClinGen
TOPMed
CA346345558
rs1372547159
1151 L>W No ClinGen
gnomAD
rs1293011654
CA346345552
1152 S>F No ClinGen
gnomAD
CA346345555
rs1277510362
1152 S>P No ClinGen
TOPMed
gnomAD
rs1277510362
CA346345554
1152 S>T No ClinGen
TOPMed
gnomAD
rs761785456
CA1622608
1153 G>E No ClinGen
ExAC
gnomAD
rs144349702
CA1622609
1153 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346345545
rs1558364172
1154 R>G No ClinGen
Ensembl
CA45625977
rs1025233081
1154 R>S No ClinGen
Ensembl
CA346345542
rs1305475168
1154 R>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1622566
rs758003708
1158 E>A No ClinGen
ExAC
TOPMed
CA1622565
rs140728716
1158 E>D No ClinGen
ESP
ExAC
TOPMed
CA1622564
rs778674874
1159 M>T No ClinGen
ExAC
gnomAD
rs998588071
CA45623518
1159 M>V No ClinGen
gnomAD
rs1253794276
CA346345239
1160 A>V No ClinGen
TOPMed
CA346345196
rs1374355575
1164 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs556108951
CA1622562
1164 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs764012601
CA1622561
1166 F>C No ClinGen
ExAC
gnomAD
TCGA novel 1166 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760458943
CA1622560
1167 T>M No ClinGen
ExAC
gnomAD
rs767539590
CA1622558
1169 L>Q No ClinGen
ExAC
gnomAD
TCGA novel 1170 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA45623502
rs1045409511
1171 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs759646144
CA1622557
1171 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs759646144
CA346345118
1171 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA1622554
rs763295085
1172 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs763295085
CA45623487
1172 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA346345105
rs1436139660
1173 I>T No ClinGen
gnomAD
rs1049288133
CA45623481
1174 G>A No ClinGen
TOPMed
rs1572632096
CA346345095
1175 F>L No ClinGen
Ensembl
rs770199232
CA1622552
1177 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA1622551
rs748553445
1178 E>K No ClinGen
ExAC
gnomAD
rs1314112461
CA346345048
1179 G>R No ClinGen
TOPMed
rs781772153
CA1622550
1180 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1354800474
CA346345017
1181 R>S No ClinGen
gnomAD
rs769324588
CA1622549
1181 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA1622548
rs369249802
1182 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1622547
rs150735204
1184 E>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346344983
rs1380917009
1184 E>D No ClinGen
gnomAD
CA1622546
rs376799913
1185 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1622545
rs753528561
1191 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA45623411
rs867395510
1192 G>E No ClinGen
Ensembl
CA346344880
rs1256810464
1193 D>G No ClinGen
TOPMed
CA1622543
rs755964010
1195 V>L No ClinGen
ExAC
gnomAD
rs200730017
CA45623404
1196 L>S No ClinGen
Ensembl
CA45623399
rs752594582
1197 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs142069579
CA1622541
1197 D>E No ClinGen
1000Genomes
ExAC
gnomAD
CA1622542
rs752594582
1197 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs139513185
CA1622539
1199 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346344790
rs1232324226
1200 G>E No ClinGen
gnomAD
CA1622511
rs764554764
1203 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA346344157
rs1170183834
1203 A>P No ClinGen
TOPMed
rs1469368018
CA346344140
1204 N>D No ClinGen
TOPMed
rs776167951
CA1622509
1205 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA1622510
rs761201191
1205 S>P No ClinGen
ExAC
gnomAD
rs1329786520
CA346344073
1207 A>T No ClinGen
TOPMed
gnomAD
rs770310943
CA1622508
1209 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA346344007
rs1272259260
1210 P>L No ClinGen
gnomAD
CA346344021
rs1450285194
1210 P>T No ClinGen
gnomAD
rs769476598
CA1622507
1212 L>M No ClinGen
ExAC
gnomAD
rs769476598
CA1622505
1212 L>V No ClinGen
ExAC
gnomAD
rs747864012
CA1622504
1214 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA346343933
rs1211424497
1216 M>I No ClinGen
gnomAD
CA1622502
rs754781303
1216 M>V No ClinGen
ExAC
gnomAD
CA346343916
rs1486379763
1218 C>Y No ClinGen
gnomAD
rs746909137
CA1622501
1220 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA346343888
rs746909137
1220 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA346343862
rs1209487774
1222 Y>F No ClinGen
gnomAD
rs780009363
CA1622500
1224 N>S No ClinGen
ExAC
gnomAD
CA1622498
rs370295178
1226 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370295178
CA1622497
1226 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1361614353
CA346343800
1227 Q>P No ClinGen
gnomAD
rs757431033
CA1622476
1230 S>N No ClinGen
ExAC
rs757431033
CA45618903
1230 S>T No ClinGen
ExAC
rs754077159
CA1622474
1231 P>L No ClinGen
ExAC
gnomAD
rs756456813
CA1622471
1232 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs756456813
CA1622472
1232 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1622470
rs753094913
1233 G>R No ClinGen
ExAC
gnomAD
rs767837952
CA1622469
1235 F>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA1622468
rs760024447
1236 Q>E No ClinGen
ExAC
gnomAD
rs1415669054
CA346342691
1236 Q>R No ClinGen
gnomAD
CA1622465
rs764678490
1239 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA1622464
rs761281159
1240 T>N No ClinGen
ExAC
gnomAD
CA346342661
rs1480131724
1241 G>R No ClinGen
gnomAD
rs1253217769
CA346342647
1243 V>I No ClinGen
TOPMed
gnomAD
CA346342645
rs1253217769
1243 V>L No ClinGen
TOPMed
gnomAD
rs1240316995
CA346342624
1245 M>V No ClinGen
gnomAD
CA1622462
rs376787497
1247 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760385932
CA1622461
1250 A>P No ClinGen
ExAC
gnomAD
rs1421664598
CA346342558
1251 E>K No ClinGen
gnomAD
CA346342537
rs1572617558
1252 L>F No ClinGen
Ensembl
TCGA novel 1252 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346342489
rs1442835115
1257 K>E No ClinGen
gnomAD
rs1391936617
CA346342476
1258 N>D No ClinGen
gnomAD
CA346342472
rs1164150812
1258 N>I No ClinGen
gnomAD
CA1622456
rs535060789
1258 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1000726146
CA45618824
1259 D>G No ClinGen
TOPMed
CA1622455
rs373998813
1259 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1622453
rs778059418
1260 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1417989947
CA346342432
1262 V>I No ClinGen
gnomAD
CA346342423
rs1253314512
1263 H>D No ClinGen
TOPMed
gnomAD
CA346342413
rs1195041797
1263 H>Q No ClinGen
gnomAD
TCGA novel 1265 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA45618813
rs965393651
1266 P>S No ClinGen
TOPMed
gnomAD
CA1622452
rs756403693
1269 V>G No ClinGen
ExAC
gnomAD
rs1018268966
CA45618790
1269 V>L No ClinGen
Ensembl
CA346342342
rs1259472322
1270 N>K No ClinGen
gnomAD
rs748324367
CA346342333
1271 Y>C No ClinGen
ExAC
gnomAD
CA1622451
rs748324367
1271 Y>S No ClinGen
ExAC
gnomAD
CA1622424
rs376956942
1273 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs971540019
CA45616733
1274 R>G No ClinGen
TOPMed
gnomAD
rs767058631
CA346342015
1274 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA1622423
rs752287853
1274 R>T No ClinGen
ExAC
gnomAD
CA346341991
rs1282172296
1276 F>C No ClinGen
TOPMed
CA346341978
rs1328587519
1277 D>G No ClinGen
TOPMed
rs1197715667
CA346341946
1279 P>L No ClinGen
gnomAD
rs774286967
CA1622420
1283 Y>* No ClinGen
ExAC
gnomAD
CA1622418
rs762928078
1286 K>E No ClinGen
ExAC
gnomAD
CA346341841
rs1467350007
1286 K>N No ClinGen
TOPMed
TCGA novel 1286 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1196446034
CA346341778
1291 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs372024939
CA346341773
1291 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372024939
CA1622416
1291 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1622415
rs748146523
1292 V>I No ClinGen
ExAC
gnomAD
rs1434845364
CA346341747
1294 I>V No ClinGen
TOPMed
gnomAD
rs776829780
CA1622414
1295 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs768755765
CA1622413
1295 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA45616686
rs866705558
1296 D>E No ClinGen
Ensembl
CA346341718
rs903923924
1297 C>G No ClinGen
gnomAD
CA45616685
rs903923924
1297 C>R No ClinGen
gnomAD
rs1403284729
CA346341683
1299 M>T No ClinGen
TOPMed
rs369055950
CA1622411
1299 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346341661
rs1420741272
1302 V>L No ClinGen
TOPMed
gnomAD
rs150583206
CA1622410
1304 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346341375
rs1572611549
1306 V>G No ClinGen
Ensembl
rs1229062523
CA346341383
1306 V>I No ClinGen
TOPMed
CA346341340
rs1332950879
1310 G>R No ClinGen
TOPMed
rs1209527160
CA346341305
1313 V>M No ClinGen
TOPMed
rs1250064213
CA346341297
1314 N>D No ClinGen
gnomAD
rs754524059
CA1622404
1316 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA346341271
rs1335159581
1316 Q>R No ClinGen
gnomAD
CA45616604
rs372355547
1319 R>T No ClinGen
ESP
TOPMed
rs1231324385
CA346341233
1320 G>R No ClinGen
gnomAD
rs1279666458
CA346341212
1321 E>D No ClinGen
gnomAD
CA1622403
rs138288600
1321 E>Q No ClinGen
ESP
ExAC
gnomAD
CA346341201
rs146662521
CA346341199
1322 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1622401
rs762872875
1323 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1333685544
CA346341197
1323 V>I No ClinGen
gnomAD
CA1622399
rs765070989
1329 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs368722712
CA1622397
1332 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764774893
CA1622396
1332 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs368722712
CA346341101
1332 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346341081
rs1411051456
1334 V>I No ClinGen
TOPMed
rs760835407
CA1622395
1335 A>V No ClinGen
ExAC
CA1622394
rs375481101
1336 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346341064
rs1468661400
1336 A>T No ClinGen
gnomAD
CA45616544
rs772463049
1338 H>R No ClinGen
Ensembl
CA45616555
rs963122093
1338 H>Y No ClinGen
Ensembl
rs772315993
CA1622393
1339 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1285033350
CA346341040
1339 Q>H No ClinGen
TOPMed
rs868327057
CA45613523
1340 V>M No ClinGen
Ensembl
rs1467478294
CA346340646
1344 V>I No ClinGen
gnomAD
CA1622373
rs771343880
1347 L>I No ClinGen
ExAC
gnomAD
rs771343880
CA1622374
1347 L>V No ClinGen
ExAC
gnomAD
CA346340598
rs1272452704
1348 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs749710971
CA1622372
1348 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1530853
CA346340581
1349 C>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA45613493
rs1054181196
1350 E>K No ClinGen
TOPMed
rs1436642790
CA346340534
1353 Q>H No ClinGen
gnomAD
CA1622369
rs746497426
1355 L>P No ClinGen
ExAC
gnomAD
CA45613485
rs1000281182
1356 Q>R No ClinGen
Ensembl
rs982081090
CA45613482
1359 I>V No ClinGen
TOPMed
CA346340438
rs1413717015
1362 P>A No ClinGen
gnomAD
rs145000957
CA1622368
1362 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758056610
CA1622367
1363 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs188665211
CA346340413
1364 I>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1622365
rs188665211
1364 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1622366
rs745547498
1364 I>V No ClinGen
ExAC
gnomAD
CA1622361
rs756098789
1365 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs753612064
CA1622364
1365 D>N No ClinGen
ExAC
gnomAD
rs764067755
CA1622362
1365 D>V No ClinGen
ExAC
gnomAD
rs753612064
CA1622363
1365 D>Y No ClinGen
ExAC
gnomAD
CA346340396
rs1558345787
1366 L>V No ClinGen
Ensembl
rs61757607
CA1622358
1368 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs767592310
CA1622359
1368 T>P No ClinGen
ExAC
gnomAD
CA1622355
rs763345335
1369 C>F No ClinGen
ExAC
gnomAD
rs766613892
CA1622356
1369 C>R No ClinGen
ExAC
gnomAD
rs766613892
CA346340368
1369 C>S No ClinGen
ExAC
gnomAD
rs763345335
CA346340366
1369 C>Y No ClinGen
ExAC
gnomAD
rs1353582979
CA346340350
1371 R>G No ClinGen
gnomAD
rs770412329
CA1622353
1371 R>Q No ClinGen
ExAC
gnomAD
rs1451273763
CA346340337
1372 G>E No ClinGen
TOPMed
CA346340341
rs1558345726
1372 G>R No ClinGen
Ensembl
CA45613421
rs369279079
1373 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1622352
rs369279079
1373 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1622351
rs369279079
1373 S>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745470225
CA1622349
1374 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs756904918
CA1622347
1374 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs756904918
CA1622348
1374 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs745470225
CA1622350
1374 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA1622346
rs749093048
1376 I>M No ClinGen
ExAC
gnomAD
CA1622345
rs140503653
1379 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q6P158

11 regional properties for Q6P158

Type Name Position InterPro Accession
domain Zinc finger, CCCH-type 299 - 326 IPR000571
domain Helicase, C-terminal 830 - 1010 IPR001650
conserved_site DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site 663 - 672 IPR002464
domain RWD domain 246 - 418 IPR006575
domain Helicase-associated domain 1035 - 1125 IPR007502
domain DEAD/DEAH box helicase domain 551 - 705 IPR011545
domain DEAD-box helicase, OB fold 1213 - 1310 IPR011709
domain Helicase superfamily 1/2, ATP-binding domain 542 - 730 IPR014001
domain Ubiquitin-associated domain 180 - 220 IPR015940
domain E3 ligase, CCCH-type zinc finger 304 - 323 IPR041367
domain DHX57, UBA domain 181 - 218 IPR042615

Functions

Description
EC Number 3.6.4.13 Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

5 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
metal ion binding Binding to a metal ion.
RNA binding Binding to an RNA molecule or a portion thereof.
RNA helicase activity Unwinding of an RNA helix, driven by ATP hydrolysis.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

10 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P43329 hrpA ATP-dependent RNA helicase HrpA Escherichia coli (strain K12) PR
O60231 DHX16 Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 Homo sapiens (Human) PR
Q8IX18 DHX40 Probable ATP-dependent RNA helicase DHX40 Homo sapiens (Human) PR
Q7L7V1 DHX32 Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 Homo sapiens (Human) PR
O43143 DHX15 ATP-dependent RNA helicase DHX15 Homo sapiens (Human) PR
Q9H2U1 DHX36 ATP-dependent DNA/RNA helicase DHX36 Homo sapiens (Human) PR
Q8IY37 DHX37 Probable ATP-dependent RNA helicase DHX37 Homo sapiens (Human) PR
Q92620 DHX38 Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 Homo sapiens (Human) PR
Q14BI7 Tdrd9 ATP-dependent RNA helicase TDRD9 Mus musculus (Mouse) PR
Q8VHK9 Dhx36 ATP-dependent DNA/RNA helicase DHX36 Mus musculus (Mouse) PR
10 20 30 40 50 60
MSSSVRRKGK PGKGGGKGSS RGGRGGRSHA SKSHGSGGGG GGGGGGGGGN RKASSRIWDD
70 80 90 100 110 120
GDDFCIFSES RRPSRPSNSN ISKGESRPKW KPKAKVPLQT LHMTSENQEK VKALLRDLQE
130 140 150 160 170 180
QDADAGSERG LSGEEEDDEP DCCNDERYWP AGQEPSLVPD LDPLEYAGLA SVEPYVPEFT
190 200 210 220 230 240
VSPFAVQKLS RYGFNTERCQ AVLRMCDGDV GASLEHLLTQ CFSETFGERM KISEAVNQIS
250 260 270 280 290 300
LDECMEQRQE EAFALKSICG EKFIERIQNR VWTIGLELEY LTSRFRKSKP KESTKNVQEN
310 320 330 340 350 360
SLEICKFYLK GNCKFGSKCR FKHEVPPNQI VGRIERSVDD SHLNAIEDAS FLYELEIRFS
370 380 390 400 410 420
KDHKYPYQAP LVAFYSTNEN LPLACRLHIS EFLYDKALTF AETSEPVVYS LITLLEEESE
430 440 450 460 470 480
IVKLLTNTHH KYSDPPVNFL PVPSRTRINN PACHKTVIPN NSFVSNQIPE VEKASESEES
490 500 510 520 530 540
DEDDGPAPVI VENESYVNLK KKISKRYDWQ AKSVHAENGK ICKQFRMKQA SRQFQSILQE
550 560 570 580 590 600
RQSLPAWEER ETILNLLRKH QVVVISGMTG CGKTTQIPQF ILDDSLNGPP EKVANIICTQ
610 620 630 640 650 660
PRRISAISVA ERVAKERAER VGLTVGYQIR LESVKSSATR LLYCTTGVLL RRLEGDTALQ
670 680 690 700 710 720
GVSHIIVDEV HERTEESDFL LLVLKDIVSQ RPGLQVILMS ATLNAELFSD YFNSCPVITI
730 740 750 760 770 780
PGRTFPVDQF FLEDAIAVTR YVLQDGSPYM RSMKQISKEK LKARRNRTAF EEVEEDLRLS
790 800 810 820 830 840
LHLQDQDSVK DAVPDQQLDF KQLLARYKGV SKSVIKTMSI MDFEKVNLEL IEALLEWIVD
850 860 870 880 890 900
GKHSYPPGAI LVFLPGLAEI KMLYEQLQSN SLFNNRRSNR CVIHPLHSSL SSEEQQAVFV
910 920 930 940 950 960
KPPAGVTKII ISTNIAETSI TIDDVVYVID SGKMKEKRYD ASKGMESLED TFVSQANALQ
970 980 990 1000 1010 1020
RKGRAGRVAS GVCFHLFTSH HYNHQLLKQQ LPEIQRVPLE QLCLRIKILE MFSAHNLQSV
1030 1040 1050 1060 1070 1080
FSRLIEPPHT DSLRASKIRL RDLGALTPDE RLTPLGYHLA SLPVDVRIGK LMLFGSIFRC
1090 1100 1110 1120 1130 1140
LDPALTIAAS LAFKSPFVSP WDKKEEANQK KLEFAFANSD YLALLQAYKG WQLSTKEGVR
1150 1160 1170 1180 1190 1200
ASYNYCRQNF LSGRVLQEMA SLKRQFTELL SDIGFAREGL RAREIEKRAQ GGDGVLDATG
1210 1220 1230 1240 1250 1260
EEANSNAENP KLISAMLCAA LYPNVVQVKS PEGKFQKTST GAVRMQPKSA ELKFVTKNDG
1270 1280 1290 1300 1310 1320
YVHIHPSSVN YQVRHFDSPY LLYHEKIKTS RVFIRDCSMV SVYPLVLFGG GQVNVQLQRG
1330 1340 1350 1360 1370 1380
EFVVSLDDGW IRFVAASHQV AELVKELRCE LDQLLQDKIK NPSIDLCTCP RGSRIISTIV
KLVTTQ