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 Q96SZ4

Entry ID Method Resolution Chain Position Source
AF-Q96SZ4-F1 Predicted AlphaFoldDB

779 variants for Q96SZ4

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 3 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394494246
rs1490770948
3 P>S No ClinGen
gnomAD
CA7857830
rs776339166
4 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA276909310
rs989691278
4 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs760269637
CA7857828
5 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs1489646377
CA394494204
5 A>T No ClinGen
gnomAD
rs760269637
CA7857829
5 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1351970069
CA394494172
6 S>F No ClinGen
gnomAD
CA394494149
rs1596286344
7 L>R No ClinGen
Ensembl
CA394494153
rs1227012435
7 L>V No ClinGen
TOPMed
gnomAD
CA7857825
rs530432636
9 R>Q Variant assessed as Somatic; 4.753e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7857826
rs771795773
9 R>W No ClinGen
ExAC
gnomAD
rs111927493
CA7857824
10 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs111927493
CA276909271
10 L>V No ClinGen
ExAC
gnomAD
CA7857823
rs770143632
11 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1401335026
CA394494074
11 R>W No ClinGen
gnomAD
TCGA novel 12 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394493409
rs1469230031
15 G>D No ClinGen
TOPMed
gnomAD
rs372188540
CA7857820
15 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394493389
COSM401610
rs1243370787
16 H>Q lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs547873560
CA7857819
16 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 17 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758700802
CA7857817
18 L>P No ClinGen
ExAC
gnomAD
CA7857815
rs779052379
19 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA276909223
rs1029357139
19 R>W No ClinGen
TOPMed
gnomAD
rs1284283401
CA394493321
20 P>A No ClinGen
gnomAD
CA7857813
rs1555445977
20 P>L No ClinGen
Ensembl
TCGA novel 21 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7857811
rs753794515
21 A>G No ClinGen
ExAC
gnomAD
rs1365815339
CA394493294
22 L>M No ClinGen
gnomAD
rs1365815339
CA394493293
22 L>V No ClinGen
gnomAD
rs1325919069
CA394493273
23 H>L No ClinGen
TOPMed
gnomAD
rs760431025
CA7857809
23 H>Y No ClinGen
ExAC
gnomAD
CA394493246
rs1318477283
25 K>E No ClinGen
gnomAD
TCGA novel 25 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1470877719
CA394493230
26 K>Q No ClinGen
gnomAD
rs891789205
CA276909187
26 K>R No ClinGen
TOPMed
gnomAD
rs998275402
CA276909170
27 Q>E No ClinGen
Ensembl
CA394493116
rs752604251
31 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA394493069
rs1421262958
33 V>A No ClinGen
gnomAD
rs762363975
CA7857803
37 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs777258898
CA7857802
37 F>S No ClinGen
ExAC
gnomAD
rs367978358
CA394492948
38 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1223142709
CA394492928
39 S>N No ClinGen
gnomAD
rs747376568
CA7857800
40 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs780476545
CA276909137
43 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs780476545
CA7857799
43 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA394492839
rs1596286139
44 H>P No ClinGen
Ensembl
rs772114126
CA7857798
44 H>Q No ClinGen
ExAC
gnomAD
CA394492812
rs1379779267
46 L>V No ClinGen
TOPMed
CA7857796
rs778806478
47 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs757303984
CA7857795
48 R>C No ClinGen
ExAC
gnomAD
CA394492774
rs753956687
48 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7857794
rs753956687
48 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA394492745
rs1358537685
50 Q>* No ClinGen
Ensembl
CA394492741
rs1353836267
50 Q>P No ClinGen
gnomAD
CA394492723
rs1383504855
51 G>E No ClinGen
TOPMed
gnomAD
rs974209372
CA276909089
53 P>L No ClinGen
TOPMed
gnomAD
rs752377209
CA7857791
53 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs752377209
CA7857792
53 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs751251047
CA7857788
54 L>F No ClinGen
ExAC
CA7857787
rs766186645
55 R>K No ClinGen
ExAC
gnomAD
CA7857786
rs762525377
56 D>G No ClinGen
ExAC
gnomAD
rs961108365
CA276909024
57 G>A No ClinGen
TOPMed
gnomAD
CA276909039
rs770147125
57 G>R No ClinGen
Ensembl
TCGA novel 59 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394492619
rs1361242389
60 V>M No ClinGen
gnomAD
CA7857781
rs775674956
63 L>M No ClinGen
ExAC
gnomAD
CA276908965
rs532142060
65 E>K No ClinGen
1000Genomes
CA394492579
rs532142060
65 E>Q No ClinGen
1000Genomes
CA394492562
rs1341666747
66 G>D No ClinGen
gnomAD
rs989764325
CA394492516
68 H>Q No ClinGen
Ensembl
rs371845936
CA7857777
68 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs563445750
CA7857778
68 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs755979872
CA7857773
69 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA7857774
rs755979872
69 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7857776
rs543656828
69 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394492451
rs1190018979
72 S>R No ClinGen
TOPMed
CA394492417
rs748149722
CA394492420
73 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA394492406
rs780802866
74 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs1441180332
CA394492410
74 A>S No ClinGen
TOPMed
gnomAD
CA7857771
rs780802866
74 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs751353965
CA7857769
76 P>L No ClinGen
ExAC
gnomAD
rs574643246
CA276908868
76 P>S No ClinGen
1000Genomes
rs759974469
CA7857741
78 D>V No ClinGen
ExAC
gnomAD
CA394492221
rs1298704340
80 S>T No ClinGen
gnomAD
rs377185928
CA7857739
83 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763114979
COSM3782947
CA7857738
83 A>V Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA7857736
rs769952713
84 G>D No ClinGen
ExAC
gnomAD
rs1457135460
CA394492162
84 G>S No ClinGen
gnomAD
CA7857735
rs761951971
85 K>Q No ClinGen
ExAC
gnomAD
rs776636695
CA7857734
86 S>N No ClinGen
ExAC
gnomAD
CA7857733
rs146494462
86 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394492115
rs1567167065
87 C>R No ClinGen
Ensembl
rs1224716995
CA394492085
88 P>L No ClinGen
TOPMed
CA394492087
rs1197009300
88 P>S No ClinGen
gnomAD
rs746969792
CA7857732
89 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs369580061
CA7857729
89 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369580061
CA7857730
89 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369580061
CA7857731
89 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7857728
rs377598614
90 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7857726
rs753330114
92 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA394491998
rs1470445597
93 T>I No ClinGen
TOPMed
CA394492005
rs1239978786
93 T>S No ClinGen
TOPMed
TCGA novel 97 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752083789
CA7857723
98 G>W No ClinGen
ExAC
gnomAD
CA7857721
rs763275617
100 A>V No ClinGen
ExAC
gnomAD
CA7857720
rs750857674
101 S>Y No ClinGen
ExAC
gnomAD
rs111581050
CA7857718
102 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1422847984
CA394491861
102 Q>R No ClinGen
TOPMed
CA7857717
rs776727960
103 V>A No ClinGen
ExAC
gnomAD
rs768637088
CA276908354
104 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs768637088
CA7857716
104 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs775534652
CA7857714
106 H>D No ClinGen
ExAC
gnomAD
CA7857713
rs772200880
107 S>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA394491763
rs1373741311
108 P>L No ClinGen
gnomAD
CA276908336
rs200920993
110 K>Q No ClinGen
1000Genomes
CA394491710
rs1329348642
112 L>* No ClinGen
TOPMed
COSM435179
CA7857711
rs778585700
112 L>F Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770550691
CA7857710
114 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
CA276908289
rs1022557252
115 E>K No ClinGen
TOPMed
rs1441649217
CA394491628
117 P>L No ClinGen
gnomAD
CA7857707
rs201658485
117 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1253766572
CA394491614
119 V>M No ClinGen
gnomAD
CA394491580
rs1241062595
121 G>D No ClinGen
Ensembl
rs548200494
CA7857705
122 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7857703
rs143680859
123 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7857704
rs780536385
123 S>P No ClinGen
ExAC
gnomAD
CA276908257
rs143680859
123 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394491521
rs528055918
125 E>D No ClinGen
1000Genomes
CA276908250
rs779830202
125 E>K No ClinGen
TOPMed
gnomAD
CA7857700
rs146059332
126 P>A No ClinGen
ESP
ExAC
gnomAD
CA394491510
rs199998276
126 P>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199998276
CA7857699
126 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs146059332
CA7857701
126 P>T No ClinGen
ESP
ExAC
gnomAD
rs149971053
CA276908231
128 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149971053
CA7857697
128 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149971053
CA7857696
128 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs767503165
COSM342207
CA7857695
129 P>S lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
TCGA novel 130 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA276908216
rs112792665
130 Q>R No ClinGen
Ensembl
CA394491443
rs1164141942
132 R>K No ClinGen
gnomAD
CA7857694
rs759550397
135 Q>H No ClinGen
ExAC
gnomAD
rs774156218
CA7857693
136 P>R No ClinGen
ExAC
gnomAD
CA276908215
rs112447214
136 P>T No ClinGen
Ensembl
rs1183769966
CA394491375
137 A>T No ClinGen
gnomAD
CA394491353
rs1250687969
138 E>G No ClinGen
TOPMed
gnomAD
CA7857691
rs749158117
139 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7857689
rs769504835
140 G>A No ClinGen
ExAC
gnomAD
TCGA novel 140 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1282914413
CA394491312
142 W>G No ClinGen
gnomAD
CA7857687
rs780697645
142 W>S No ClinGen
ExAC
gnomAD
rs867636940
CA276908164
143 R>S No ClinGen
gnomAD
rs1287982306
CA394491245
144 L>F No ClinGen
gnomAD
rs746380305
CA7857685
147 S>G No ClinGen
ExAC
gnomAD
CA394491190
rs779520193
147 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA394491201
rs746380305
147 S>R No ClinGen
ExAC
gnomAD
CA7857684
rs779520193
147 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA7857682
rs754292911
149 K>N No ClinGen
ExAC
gnomAD
rs1404804614
CA394491145
149 K>R No ClinGen
gnomAD
CA394491106
rs200688294
151 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7857681
rs200688294
151 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394491056
rs1410866990
154 P>A No ClinGen
TOPMed
gnomAD
COSM1234807
CA7857679
rs752756761
154 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA394491047
rs752756761
154 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs370197363
CA7857677
155 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7857675
rs766381388
156 P>L No ClinGen
ExAC
gnomAD
rs774134341
CA7857676
156 P>T No ClinGen
ExAC
CA394490999
rs1288423582
157 Q>R No ClinGen
gnomAD
rs1207353836
CA394490947
159 T>A No ClinGen
TOPMed
gnomAD
rs773120329
CA7857673
159 T>I No ClinGen
ExAC
gnomAD
CA394490937
rs773120329
159 T>R No ClinGen
ExAC
gnomAD
rs150895149
CA7857672
161 Q>H No ClinGen
ESP
ExAC
CA394490841
rs1226913994
163 L>P No ClinGen
gnomAD
CA394490828
rs1347659848
164 Q>* No ClinGen
gnomAD
rs1347659848
CA394490825
164 Q>K No ClinGen
gnomAD
rs141587079
CA7857670
165 E>Q No ClinGen
ESP
ExAC
gnomAD
TCGA novel 166 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394490693
rs1254326128
168 P>A No ClinGen
TOPMed
rs1462724986
CA394490685
168 P>L No ClinGen
TOPMed
rs1343367624
CA394490654
170 G>C No ClinGen
gnomAD
rs534327171
CA7857654
171 P>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1238369914
CA394490641
171 P>S No ClinGen
gnomAD
CA394490592
rs1229317735
173 P>L No ClinGen
TOPMed
gnomAD
CA276907814
rs1017157171
173 P>S No ClinGen
TOPMed
gnomAD
rs868235582
CA276907799
174 W>C No ClinGen
TOPMed
gnomAD
rs1295336427
CA394490556
175 P>L No ClinGen
gnomAD
CA7857652
rs779276184
175 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA276907788
rs868024637
176 E>* No ClinGen
gnomAD
CA394490547
rs868024637
176 E>K No ClinGen
gnomAD
CA394490481
rs1301998673
179 S>F No ClinGen
gnomAD
CA394490469
rs1355981244
180 R>* No ClinGen
gnomAD
CA7857651
rs760087204
180 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs771286117
CA7857649
185 A>P No ClinGen
ExAC
gnomAD
CA7857648
rs139219169
185 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394490250
rs1181679289
188 L>R No ClinGen
TOPMed
gnomAD
CA394490117
rs1249672427
189 E>A No ClinGen
TOPMed
gnomAD
CA7857630
rs368316207
190 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763885517
CA394489988
194 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA276907579
rs762690130
194 E>D No ClinGen
TOPMed
gnomAD
rs763885517
CA7857627
194 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1366219869
CA394489960
195 D>V No ClinGen
gnomAD
CA394489928
rs1360049759
196 V>A No ClinGen
TOPMed
CA7857626
rs768700381
196 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs546208721
COSM970238
CA7857624
198 E>D large_intestine endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA7857625
rs184489306
198 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1296326026
CA394489842
199 N>K No ClinGen
TOPMed
rs1344678764
CA394489845
199 N>T No ClinGen
gnomAD
CA7857623
rs758487406
201 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1178427356
CA394489632
205 H>Q No ClinGen
gnomAD
rs1294572033
CA394489659
205 H>Y No ClinGen
TOPMed
rs931092337
CA276907554
206 P>S No ClinGen
TOPMed
gnomAD
CA7857617
rs755683999
207 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA276906972
rs865915146
208 G>E No ClinGen
Ensembl
rs1186723298
CA394489581
208 G>R No ClinGen
TOPMed
rs1311285149
CA394487370
209 F>L No ClinGen
TOPMed
gnomAD
CA7857599
rs755915372
210 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1371179958
CA394487266
212 R>I No ClinGen
gnomAD
rs111643637
CA7857598
213 T>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1185668991
CA394487214
214 P>T No ClinGen
gnomAD
rs1406089692
CA394487165
215 D>G No ClinGen
TOPMed
CA7857596
rs754680342
216 K>E No ClinGen
ExAC
TOPMed
CA7857595
rs751054072
217 E>G No ClinGen
ExAC
gnomAD
CA394487029
rs3810808
218 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1188052518
CA394487059
218 E>G No ClinGen
gnomAD
rs1405515526
CA394487071
218 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA7857593
rs762366272
219 F>V No ClinGen
ExAC
TOPMed
rs777161511
CA7857592
221 Q>K No ClinGen
ExAC
gnomAD
rs1206790320
CA394486859
222 E>* No ClinGen
gnomAD
rs1483111694
CA394486849
222 E>A No ClinGen
gnomAD
CA7857590
rs140690870
CA394486799
223 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7857591
rs764571844
223 E>K No ClinGen
ExAC
gnomAD
CA7857588
rs76320766
224 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1338073532
CA394486765
224 P>S No ClinGen
gnomAD
rs759778794
CA7857587
225 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA7857586
rs200881850
226 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770968520
CA7857585
227 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs377739945
CA7857582
229 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394486604
rs1307538305
230 P>S No ClinGen
gnomAD
TCGA novel 233 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7857580
rs569999395
235 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs944537849
CA276906887
236 E>D No ClinGen
Ensembl
rs754626747
CA7857579
236 E>G No ClinGen
ExAC
TOPMed
gnomAD
COSM229277
rs751285059
CA7857578
237 S>F Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA7857576
rs757954787
238 Q>P No ClinGen
ExAC
gnomAD
CA7857577
rs757954787
238 Q>R No ClinGen
ExAC
gnomAD
rs1250588142
CA394486223
240 D>G No ClinGen
gnomAD
CA7857575
rs550139918
240 D>H No ClinGen
1000Genomes
ExAC
gnomAD
CA7857574
rs764598260
243 G>A No ClinGen
ExAC
gnomAD
rs200152757
CA7857571
244 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200152757
CA7857572
244 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7857569
rs774535085
245 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7857570
COSM1377510
rs759936090
245 P>S Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA7857568
rs771201566
248 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1428779233
CA394485954
248 P>T No ClinGen
TOPMed
CA7857566
rs773169184
249 C>* No ClinGen
ExAC
gnomAD
rs763084358
CA7857567
249 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA7857565
rs530169134
250 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394485867
rs1440192557
251 Q>* No ClinGen
gnomAD
CA394485862
rs1332834441
251 Q>L No ClinGen
gnomAD
rs1332834441
CA394485854
251 Q>P No ClinGen
gnomAD
rs138396635
CA7857563
252 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746846844
CA7857561
253 L>I No ClinGen
ExAC
gnomAD
CA394485768
rs1410854914
254 G>A No ClinGen
gnomAD
rs959281745
CA276906833
254 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs150161891
CA7857557
255 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150161891
CA7857556
255 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7857558
rs749893154
255 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs768061354
CA7857555
257 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs768061354
CA7857554
257 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7857553
rs759881297
258 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7857551
rs556092952
260 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201096612
CA394485580
261 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201096612
CA7857550
COSM3420961
261 G>S Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7857548
rs765260888
262 P>L No ClinGen
ExAC
gnomAD
CA7857546
rs776684114
263 G>D No ClinGen
ExAC
gnomAD
rs199924156
CA394485463
CA276906749
266 G>R No ClinGen
gnomAD
CA394485427
rs1596283451
267 S>C No ClinGen
Ensembl
rs746738469
CA7857544
268 L>F No ClinGen
ExAC
gnomAD
CA7857543
rs775442673
COSM3817886
269 L>F Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1415781366
CA394485331
270 G>D No ClinGen
gnomAD
CA394485339
rs1315811646
270 G>R No ClinGen
gnomAD
CA394485342
rs1315811646
270 G>S No ClinGen
gnomAD
rs745540882
CA7857541
272 S>G No ClinGen
ExAC
gnomAD
CA7857540
rs778668211
275 L>S No ClinGen
ExAC
gnomAD
rs917508173
CA276906713
278 K>R No ClinGen
Ensembl
rs756702401
CA7857539
279 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA394485033
rs756702401
279 V>E No ClinGen
ExAC
TOPMed
gnomAD
rs748855176
CA7857538
280 A>V No ClinGen
ExAC
gnomAD
TCGA novel 282 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766750424
CA7857534
285 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA394484791
rs1200012492
285 E>Q No ClinGen
gnomAD
CA394484726
rs1228991370
287 N>S No ClinGen
gnomAD
rs761781072
CA7857530
288 P>A No ClinGen
ExAC
gnomAD
CA7857529
rs776913772
288 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs761781072
CA7857531
288 P>S No ClinGen
ExAC
gnomAD
CA394484666
rs760714299
290 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA7857527
rs760714299
290 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA7857526
rs775389170
291 Q>E No ClinGen
ExAC
gnomAD
rs1450686740
CA394484499
294 C>S No ClinGen
gnomAD
rs745727302
COSM1636998
CA7857524
295 A>T bone [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA394484439
rs1185206483
295 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1238275573
CA394484347
297 C>S No ClinGen
gnomAD
CA394484309
rs1187420282
298 G>R No ClinGen
gnomAD
rs1484745212
CA394484289
298 G>V No ClinGen
gnomAD
TCGA novel 299 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA276906607
rs537870698
299 V>M No ClinGen
gnomAD
rs367585417
CA7857522
302 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394484159
rs1567165261
302 P>S No ClinGen
Ensembl
COSM4129029
CA276906576
rs868778057
303 Q>H thyroid [Cosmic] No ClinGen
cosmic curated
Ensembl
CA276906572
COSM4129028
rs866844291
304 L>P thyroid [Cosmic] No ClinGen
cosmic curated
Ensembl
TCGA novel 305 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777278520
CA7857520
306 R>C No ClinGen
ExAC
rs1283244066
CA394484069
306 R>L No ClinGen
gnomAD
rs780648125
CA7857517
308 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7857516
rs758666253
309 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1354541866
CA394483995
309 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs757570428
CA7857512
313 R>C No ClinGen
ExAC
gnomAD
rs753924880
CA7857511
313 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA394483889
rs753924880
313 R>L No ClinGen
ExAC
TOPMed
gnomAD
COSM222312
CA394483876
rs1361319090
314 S>W skin [Cosmic] No ClinGen
cosmic curated
TOPMed
TCGA novel 315 H>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394483840
rs764303344
315 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7857507
rs767550774
316 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7857509
rs767550774
316 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7857508
rs767550774
316 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1247967407
CA394483833
316 P>T No ClinGen
gnomAD
rs770431759
CA7857503
317 A>G No ClinGen
ExAC
gnomAD
CA7857502
rs375481494
318 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM3690967
CA7857501
rs772666527
319 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs769261525
CA276906406
319 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs769261525
CA7857500
319 R>P No ClinGen
ExAC
gnomAD
CA7857498
rs780410257
320 S>F No ClinGen
ExAC
gnomAD
rs747702080
CA7857499
320 S>T No ClinGen
ExAC
gnomAD
rs1019284840
CA276906362
324 L>P No ClinGen
Ensembl
CA394483645
rs1350942609
325 C>* No ClinGen
gnomAD
CA394483649
rs1183484998
325 C>S No ClinGen
TOPMed
CA394483613
rs1163487393
327 G>E No ClinGen
TOPMed
CA7857494
CA394483616
rs757518183
327 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA394483620
rs757518183
327 G>W No ClinGen
ExAC
gnomAD
CA7857493
rs754085205
328 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1398477180
CA394483583
329 S>G No ClinGen
TOPMed
rs756252209
CA7857491
329 S>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 329 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756252209
CA7857492
329 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA394483543
rs751263901
331 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA7857487
rs751263901
331 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs763679597
CA7857489
331 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA7857488
rs763679597
331 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA7857486
rs201017742
332 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7857485
rs762775017
332 R>H No ClinGen
ExAC
gnomAD
rs762775017
CA394483526
332 R>L No ClinGen
ExAC
gnomAD
CA394483522
rs1466038166
333 S>R No ClinGen
gnomAD
rs1268386898
CA394483513
333 S>T No ClinGen
gnomAD
rs772825790
CA7857484
334 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA7857483
rs769492219
334 S>F No ClinGen
ExAC
gnomAD
rs1302817981
CA394483490
335 I>V No ClinGen
gnomAD
CA394483445
rs1245158327
337 K>R No ClinGen
TOPMed
CA394483394
CA394483392
rs1219281728
340 M>L No ClinGen
TOPMed
gnomAD
rs1219281728
CA394483393
340 M>V No ClinGen
TOPMed
gnomAD
CA276906292
rs1054076405
341 R>S No ClinGen
TOPMed
CA394483338
rs1368989447
342 T>A No ClinGen
gnomAD
rs368631681
CA276906287
343 H>D No ClinGen
ESP
rs866962910
CA276906270
345 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA7857480
rs772413780
346 E>D No ClinGen
ExAC
gnomAD
rs776205963
CA7857481
346 E>K No ClinGen
ExAC
gnomAD
TCGA novel 347 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7857478
rs374247812
350 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374247812
CA394483150
350 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA394483099
rs771403484
352 H>Q No ClinGen
ExAC
gnomAD
CA394483049
rs1394411888
355 G>D No ClinGen
gnomAD
CA394483051
rs576668601
355 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs576668601
CA7857476
355 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1451123282
CA394483032
356 H>R No ClinGen
gnomAD
rs370920073
CA7857475
357 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA394483021
rs370920073
357 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1204298103
CA394483019
357 R>H No ClinGen
gnomAD
rs899271898
CA276906233
358 F>V No ClinGen
Ensembl
rs1257381464
CA394482994
359 R>C No ClinGen
gnomAD
rs924172758
CA394482991
359 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA276906229
rs924172758
359 R>L No ClinGen
TOPMed
gnomAD
TCGA novel 360 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1346434323
CA394482929
362 S>A No ClinGen
gnomAD
CA394482915
rs1303325551
362 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1381999250
CA394482818
364 L>Q No ClinGen
gnomAD
rs751482057
CA7857470
365 S>N No ClinGen
ExAC
gnomAD
rs766351432
CA7857469
366 K>T No ClinGen
ExAC
gnomAD
CA394482733
rs1304904853
367 H>R No ClinGen
Ensembl
rs370376627
CA7857468
368 L>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394482628
rs1374878211
370 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7857463
rs763631267
374 E>K No ClinGen
ExAC
TOPMed
CA394482490
rs1426513578
375 P>L No ClinGen
gnomAD
CA7857460
rs377365152
375 P>S No ClinGen
ESP
ExAC
gnomAD
CA7857461
rs377365152
375 P>T No ClinGen
ESP
ExAC
gnomAD
rs773727116
CA7857458
376 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA7857457
rs773727116
376 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs555923237
CA7857456
378 L>Q No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 379 C>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394482408
rs1290383536
379 C>Y No ClinGen
TOPMed
CA7857454
COSM3690965
rs781309006
380 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA394482373
rs1345014437
381 E>G No ClinGen
gnomAD
CA394482359
rs1222938779
382 C>G No ClinGen
TOPMed
rs1252403355
CA394482332
382 C>W No ClinGen
gnomAD
CA7857453
rs755062060
383 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1428287668
CA394482289
384 R>C No ClinGen
TOPMed
gnomAD
CA394482279
rs1428287668
384 R>G No ClinGen
TOPMed
gnomAD
rs867731277
CA276906168
384 R>H No ClinGen
Ensembl
rs779959056
CA7857451
385 G>D No ClinGen
ExAC
gnomAD
rs1315135873
CA394482243
385 G>S No ClinGen
TOPMed
gnomAD
CA394482140
rs1250330670
388 R>G No ClinGen
TOPMed
CA394482138
rs1411725527
388 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs750157747
CA7857449
389 R>C No ClinGen
ExAC
gnomAD
rs750157747
CA7857450
389 R>G No ClinGen
ExAC
gnomAD
rs757045857
CA7857447
390 A>P No ClinGen
ExAC
gnomAD
TCGA novel 390 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs373156662
CA7857445
391 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373156662
CA7857446
391 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs573806484
CA7857442
395 H>L No ClinGen
1000Genomes
ExAC
gnomAD
CA276906086
rs553874658
398 A>E No ClinGen
1000Genomes
gnomAD
CA276906093
COSM1665310
rs866313274
398 A>T kidney [Cosmic] No ClinGen
cosmic curated
Ensembl
rs553874658
COSM2918064
CA276906088
398 A>V pancreas [Cosmic] No ClinGen
cosmic curated
1000Genomes
gnomAD
rs1337892399
CA394481883
399 H>Q No ClinGen
TOPMed
gnomAD
CA7857439
rs770250651
399 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1197554318
CA394481787
402 D>E No ClinGen
gnomAD
rs1334511209
CA394481723
405 P>L No ClinGen
TOPMed
gnomAD
rs1334511209
CA394481727
405 P>Q No ClinGen
TOPMed
gnomAD
CA7857435
rs747040026
407 C>F No ClinGen
ExAC
gnomAD
CA276906023
rs752513532
407 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs752513532
CA7857436
407 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs780118358
CA7857434
408 A>T No ClinGen
ExAC
gnomAD
CA394481685
rs1389559424
408 A>V No ClinGen
gnomAD
rs778873391
CA7857431
410 E>A No ClinGen
ExAC
gnomAD
rs139013310
CA7857432
410 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1160856123
CA394481621
411 S>G No ClinGen
gnomAD
rs1472647698
CA394481617
411 S>N No ClinGen
gnomAD
rs757065928
CA394481575
412 K>N No ClinGen
ExAC
gnomAD
CA276905986
rs968850630
412 K>Q No ClinGen
Ensembl
rs1202579188
CA394481560
413 A>V No ClinGen
TOPMed
gnomAD
CA394481557
rs1341241126
414 E>K No ClinGen
TOPMed
gnomAD
rs755737402
CA7857427
416 P>L No ClinGen
ExAC
gnomAD
rs1468264381
CA394481512
417 P>L No ClinGen
gnomAD
CA7857424
rs759155103
420 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA394481450
rs1351530805
421 V>F No ClinGen
gnomAD
CA394481421
rs1236942570
423 C>R No ClinGen
gnomAD
rs1207697400
CA394481402
423 C>W No ClinGen
TOPMed
CA394481383
rs201495311
424 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7857423
rs201495311
RCV000963798
424 S>Y No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA394481367
rs1303985453
425 H>R No ClinGen
gnomAD
rs965848604
CA276905938
426 C>G No ClinGen
TOPMed
rs1439915247
CA394481353
426 C>Y No ClinGen
gnomAD
CA394481344
rs1322177194
COSM1609235
427 G>S Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 427 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs867507397
CA276905928
429 S>G No ClinGen
Ensembl
rs759485072
CA276905927
429 S>N No ClinGen
gnomAD
CA276905922
rs964764644
430 F>L No ClinGen
TOPMed
CA7857422
rs765722072
431 Q>* No ClinGen
ExAC
gnomAD
rs762229712
CA7857421
431 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs867058338
CA276905902
431 Q>R No ClinGen
Ensembl
rs557930015
CA7857419
432 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394481219
rs1018609050
432 R>H No ClinGen
gnomAD
CA276905875
rs1018609050
432 R>L No ClinGen
gnomAD
rs557930015
CA7857420
432 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA276905852
rs1007377500
433 R>G No ClinGen
TOPMed
gnomAD
rs889843644
CA276905851
433 R>H No ClinGen
TOPMed
gnomAD
CA394481212
rs1007377500
433 R>S No ClinGen
TOPMed
gnomAD
CA7857417
rs775733080
434 S>P No ClinGen
ExAC
gnomAD
CA394481164
rs1447847033
435 S>R No ClinGen
gnomAD
CA394481148
rs1283807157
437 K>E No ClinGen
gnomAD
CA394481138
rs1203475459
438 R>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1233429263
CA394481091
441 R>Q No ClinGen
gnomAD
rs569119394
CA276905846
441 R>W No ClinGen
1000Genomes
TCGA novel 444 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394481046
rs1424334545
444 A>G No ClinGen
TOPMed
rs1368660247
CA394481050
444 A>S No ClinGen
TOPMed
gnomAD
rs1368660247
CA394481052
444 A>T No ClinGen
TOPMed
gnomAD
CA7857416
rs772119487
445 R>T No ClinGen
ExAC
gnomAD
rs1054216252
CA276905838
446 D>Y No ClinGen
TOPMed
TCGA novel 448 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394480991
rs776711065
449 R>H No ClinGen
TOPMed
CA276905833
rs776711065
449 R>L No ClinGen
TOPMed
CA394480980
rs374975258
450 R>P No ClinGen
ESP
ExAC
gnomAD
CA7857415
rs374975258
450 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA394480986
rs1325560667
COSM557674
450 R>W lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA394480971
rs1415693432
451 S>F No ClinGen
gnomAD
rs1000792880
CA276905814
453 E>K No ClinGen
TOPMed
gnomAD
CA394480926
rs1188714766
456 G>S No ClinGen
TOPMed
gnomAD
CA394480904
rs1231234497
458 R>C No ClinGen
TOPMed
rs1475942046
CA394480903
458 R>H No ClinGen
gnomAD
rs1475942046
CA394480900
458 R>L No ClinGen
gnomAD
rs772235686
CA276905794
459 R>H No ClinGen
gnomAD
rs761819689
CA394480888
460 R>G No ClinGen
TOPMed
gnomAD
CA276905778
rs774537621
460 R>Q No ClinGen
gnomAD
CA276905784
rs761819689
460 R>W No ClinGen
TOPMed
gnomAD
rs1266777265
CA394480881
461 D>A No ClinGen
TOPMed
rs536219069
CA7857413
463 D>N No ClinGen
1000Genomes
ExAC
gnomAD
rs536219069
CA394480869
463 D>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs565330138
CA7857410
464 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs749054925
CA7857411
464 R>W No ClinGen
ExAC
gnomAD
CA394480858
rs1268068142
465 R>K No ClinGen
TOPMed
gnomAD
COSM1234810
CA276905733
rs1012996173
468 V>M kidney large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs755753303
CA394480820
470 S>R No ClinGen
ExAC
gnomAD
CA394480817
rs1374242695
471 D>N No ClinGen
TOPMed
gnomAD
rs1410904697
CA394480807
472 C>Y No ClinGen
gnomAD
CA276905716
rs781039390
473 G>D No ClinGen
ExAC
gnomAD
rs1384439500
CA394480801
473 G>R No ClinGen
TOPMed
CA7857407
rs781039390
473 G>V No ClinGen
ExAC
gnomAD
CA276905710
rs200504999
474 K>Q No ClinGen
Ensembl
rs754522615
CA7857406
475 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs199734696
CA394480791
475 A>P No ClinGen
TOPMed
gnomAD
CA276905706
rs199734696
475 A>T No ClinGen
TOPMed
gnomAD
rs751180864
CA7857405
477 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs201982721
CA7857404
477 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA394480779
COSM233850
rs751180864
477 R>W skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1386507317
CA394480769
479 S>G No ClinGen
TOPMed
CA7857403
rs762236567
479 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs754180254
CA7857402
480 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1270671739
CA394480762
480 E>K No ClinGen
gnomAD
CA7857400
rs761080673
481 H>Q No ClinGen
ExAC
gnomAD
CA394480748
rs1226924856
482 L>V No ClinGen
TOPMed
CA394480740
rs1351750082
483 V>A No ClinGen
gnomAD
CA394480738
rs1300455437
484 A>T No ClinGen
gnomAD
CA394480735
rs1443616831
484 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1354445519
CA394480726
485 H>Q No ClinGen
gnomAD
rs1463342640
CA394480723
486 R>Q No ClinGen
TOPMed
gnomAD
rs772352321
COSM1234808
CA7857398
486 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA394480717
rs1418855277
487 R>K No ClinGen
gnomAD
CA394480702
rs1164414148
489 H>L No ClinGen
TOPMed
gnomAD
CA394480696
rs759549822
490 T>K No ClinGen
ExAC
gnomAD
CA7857397
rs759549822
490 T>M No ClinGen
ExAC
gnomAD
CA394480695
rs759549822
490 T>R No ClinGen
ExAC
gnomAD
CA394480694
rs1177820158
491 G>S No ClinGen
gnomAD
CA394480687
rs1179627212
492 E>K No ClinGen
gnomAD
rs1231086452
CA394480679
493 R>Q No ClinGen
gnomAD
CA7857395
rs369017934
493 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1596282093
CA394480671
494 P>R No ClinGen
Ensembl
CA394480674
rs1468699034
494 P>S No ClinGen
gnomAD
TCGA novel 497 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749215616
CA7857394
497 C>Y No ClinGen
ExAC
gnomAD
rs769688445
CA7857392
499 A>V No ClinGen
ExAC
gnomAD
CA7857391
rs748013990
500 C>W No ClinGen
ExAC
gnomAD
CA394480565
rs1373332069
501 G>D No ClinGen
gnomAD
rs780986421
CA7857390
501 G>S No ClinGen
ExAC
TOPMed
gnomAD
COSM1678795
rs779451100
CA7857388
502 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7857386
rs757739120
502 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7857387
rs779451100
502 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs984874719
CA276905545
505 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA394480484
rs1159993636
506 Q>* No ClinGen
gnomAD
CA394480447
rs764721967
507 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1418569197
CA394480461
507 S>T No ClinGen
TOPMed
gnomAD
CA276905536
rs867589050
508 S>L No ClinGen
TOPMed
gnomAD
CA394480439
rs867589050
508 S>W No ClinGen
TOPMed
gnomAD
CA394480430
rs1446429706
509 Q>R No ClinGen
TOPMed
CA7857380
rs759776811
510 L>V No ClinGen
ExAC
gnomAD
rs1260942884
CA394480379
512 S>R No ClinGen
gnomAD
CA7857377
rs763141156
514 Q>* No ClinGen
ExAC
gnomAD
rs763141156
CA394480343
514 Q>E No ClinGen
ExAC
gnomAD
CA394480323
rs1237089256
515 R>Q No ClinGen
gnomAD
rs1284534513
CA394480324
515 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 516 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769918677
CA7857375
517 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA394480263
rs1439141948
518 T>A No ClinGen
gnomAD
CA7857373
rs776576700
519 G>A No ClinGen
ExAC
gnomAD
rs1289598035
CA394480251
519 G>S No ClinGen
gnomAD
TCGA novel 520 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7857371
rs746670450
522 P>S No ClinGen
ExAC
gnomAD
rs779794491
CA7857370
525 C>S No ClinGen
ExAC
CA7857368
rs114985173
526 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394480095
rs1435319948
526 P>S No ClinGen
gnomAD
CA7857366
rs199627380
529 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7857365
rs199627380
529 G>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs767901507
CA7857363
530 K>Q No ClinGen
ExAC
gnomAD
CA7857362
rs755377345
531 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs755377345
CA394479979
531 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA394479973
rs751707925
531 R>H No ClinGen
ExAC
gnomAD
CA7857361
rs751707925
531 R>P No ClinGen
ExAC
gnomAD
CA394479934
rs1181746159
533 V>L No ClinGen
TOPMed
CA394479905
COSM116142
rs1017863494
534 R>C ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA276905402
rs1017863494
534 R>G No ClinGen
TOPMed
gnomAD
CA7857358
rs773346032
535 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762937703
CA7857359
535 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs765204671
CA7857357
536 A>T No ClinGen
ExAC
gnomAD
rs1424508408
CA394479853
537 S>G No ClinGen
TOPMed
rs1381907130
CA394478431
537 S>N No ClinGen
gnomAD
CA394478414
rs1413330240
537 S>R No ClinGen
TOPMed
COSM3794825
CA394478349
rs1314910385
539 A>V Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA394478341
rs994679568
540 R>C No ClinGen
gnomAD
CA276905370
rs994679568
540 R>G No ClinGen
gnomAD
rs761861174
CA7857355
540 R>H No ClinGen
ExAC
gnomAD
CA276905351
rs954283488
542 L>R No ClinGen
TOPMed
rs1032415264
CA276905336
544 T>A No ClinGen
TOPMed
rs1373393850
CA394478236
544 T>I No ClinGen
gnomAD
rs768537487
CA7857353
546 G>C No ClinGen
ExAC
gnomAD
rs768537487
CA7857354
546 G>S No ClinGen
ExAC
gnomAD
rs1419549276
CA394478150
549 R>G No ClinGen
gnomAD
rs1000846730
CA394478139
549 R>P No ClinGen
TOPMed
gnomAD
CA276905309
COSM1377509
rs1000846730
549 R>Q large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA394478147
rs1419549276
549 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA394478121
rs1485020244
550 P>L No ClinGen
gnomAD
CA394478107
rs1257447841
551 H>R No ClinGen
gnomAD
CA276905300
rs902520616
552 H>D No ClinGen
TOPMed
rs563173508
CA7857351
552 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7857352
rs760578709
552 H>R No ClinGen
ExAC
gnomAD
rs1282136708
CA394478079
553 C>R No ClinGen
TOPMed
CA394478075
rs1252308023
553 C>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7857350
rs542278388
554 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1042654484
CA276905279
554 T>P No ClinGen
TOPMed
CA394478007
rs1316365145
555 Q>H No ClinGen
gnomAD
CA7857349
rs745312999
556 C>G No ClinGen
ExAC
gnomAD
CA394477988
rs1233996740
556 C>Y No ClinGen
gnomAD
rs1279171414
CA394477971
557 G>R No ClinGen
TOPMed
CA394477946
rs1354851707
558 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs778417520
CA7857348
561 G>S No ClinGen
ExAC
gnomAD
rs1397093771
CA394477841
562 Q>E No ClinGen
gnomAD
rs770247147
CA7857347
563 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs770247147
CA276905264
563 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA394477792
rs1484181364
564 Q>E No ClinGen
TOPMed
rs1474606419
CA394477772
565 D>N No ClinGen
gnomAD
rs1474606419
CA394477767
565 D>Y No ClinGen
gnomAD
CA394477749
rs1246257714
566 L>V No ClinGen
TOPMed
rs573644055
CA7857344
568 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA276905230
rs1035753913
568 R>H No ClinGen
TOPMed
gnomAD
rs1035753913
CA394477708
568 R>L No ClinGen
TOPMed
gnomAD
CA394477681
rs560298599
569 H>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA276905219
rs868109712
570 Q>R No ClinGen
Ensembl
rs1195593327
CA394477624
571 R>H No ClinGen
gnomAD
CA276905212
rs868006396
572 S>I No ClinGen
Ensembl
CA394477554
rs1275312257
574 T>M No ClinGen
gnomAD
CA394477549
rs1334406893
575 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1241254169
CA394477531
576 E>K No ClinGen
gnomAD
rs1336343407
CA394477485
577 K>R No ClinGen
gnomAD
rs750416819
CA394477407
578 P>L No ClinGen
ExAC
gnomAD
CA7857340
rs750416819
578 P>R No ClinGen
ExAC
gnomAD
CA7857339
rs765435136
579 C>R No ClinGen
ExAC
gnomAD
rs1326207066
CA394477379
580 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA394477378
rs1430087984
580 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA394477374
rs1430087984
580 R>P No ClinGen
TOPMed
CA394477381
rs1326207066
580 R>S No ClinGen
TOPMed
gnomAD
CA276905182
rs1055722618
581 C>Y No ClinGen
TOPMed
gnomAD
CA7857338
rs540283059
583 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7857337
rs753802167
584 C>Y No ClinGen
ExAC
gnomAD
rs1364896891
CA394477199
585 G>A No ClinGen
TOPMed
gnomAD
rs1453769306
CA394477210
585 G>C No ClinGen
gnomAD
CA394477196
rs1364896891
585 G>D No ClinGen
TOPMed
gnomAD
rs1181662794
CA394477163
586 E>D No ClinGen
TOPMed
gnomAD
TCGA novel 587 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7857336
rs577804295
587 G>S No ClinGen
1000Genomes
ExAC
gnomAD
rs760323930
CA7857335
589 S>R No ClinGen
ExAC
gnomAD
CA7857334
rs775372113
590 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA7857333
rs771580222
591 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA394476988
rs1206150845
592 A>G No ClinGen
TOPMed
CA276905112
rs1048783701
592 A>T No ClinGen
TOPMed
gnomAD
rs770406735
CA7857330
594 L>Q No ClinGen
ExAC
gnomAD
CA7857329
rs748853111
595 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA394476900
rs781661100
596 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7857328
rs781661100
596 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs769210651
CA7857327
597 H>R No ClinGen
ExAC
gnomAD
CA394476786
CA394476784
rs1319817530
598 Q>H No ClinGen
gnomAD
CA394476760
rs1400807803
599 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7857326
rs747279553
599 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1400807803
CA394476773
599 R>S No ClinGen
TOPMed
gnomAD
rs750640398
CA394476637
602 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA7857324
rs758505556
602 T>P No ClinGen
ExAC
gnomAD
CA7857323
rs750640398
602 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1245211214
CA394476496
607 H>L No ClinGen
gnomAD
rs149846830
CA7857319
608 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM3782946
CA7857320
rs149846830
608 A>T prostate [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA394476442
rs1350048389
610 D>H No ClinGen
gnomAD
CA394476434
rs1406717869
610 D>V No ClinGen
TOPMed
CA394476360
rs1342557810
614 H>L No ClinGen
gnomAD
rs538023779
CA7857316
615 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7857315
rs767313485
615 R>H No ClinGen
ExAC
gnomAD
rs773981937
CA7857313
617 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762381484
CA7857312
617 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs762381484
CA7857311
617 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA7857314
rs773981937
617 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA7857310
rs768994927
618 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs768994927
CA7857309
618 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs575472787
CA7857308
619 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7857307
CA7857306
rs772457751
619 S>R No ClinGen
ExAC
gnomAD
CA7857305
rs555603589
620 S>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1423454040
CA394476176
621 N>Y No ClinGen
gnomAD
rs1475891947
CA394476129
623 A>T No ClinGen
gnomAD
rs1423177969
CA394476100
624 R>C No ClinGen
TOPMed
gnomAD
CA394476097
rs1191605039
624 R>L No ClinGen
gnomAD
CA394476065
rs1354577595
625 H>R No ClinGen
TOPMed
rs757570236
CA7857303
626 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA394476036
rs1210026166
626 R>H No ClinGen
gnomAD
CA394476024
rs1444086852
627 R>H No ClinGen
TOPMed
gnomAD
CA394475998
rs1266095113
628 S>R No ClinGen
gnomAD
rs1274918730
CA394475928
630 T>M No ClinGen
TOPMed
gnomAD
CA7857301
rs567279199
631 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7857300
rs777944402
632 E>* No ClinGen
ExAC
TOPMed
gnomAD
rs1314053482
CA394475859
633 R>L No ClinGen
gnomAD
rs1357904610
CA394475798
636 S>T No ClinGen
gnomAD
CA394475773
rs1567163077
637 C>S No ClinGen
Ensembl
CA7857297
rs767414189
639 T>R No ClinGen
ExAC
gnomAD
CA7857296
rs754765130
640 C>* No ClinGen
ExAC
gnomAD
CA394475707
rs1328557047
640 C>Y No ClinGen
gnomAD
CA7857295
rs547387209
641 G>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1418721149
CA394475562
645 R>P No ClinGen
gnomAD
CA276904943
rs987144881
646 R>C No ClinGen
TOPMed
gnomAD
CA394475536
rs1471804661
646 R>H No ClinGen
gnomAD
CA394475545
rs987144881
646 R>S No ClinGen
TOPMed
gnomAD
rs573961182
CA7857293
647 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs772664359
CA7857292
648 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1255780103
CA394475498
649 H>Y No ClinGen
gnomAD
rs764768957
CA394475471
651 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs764768957
CA7857291
651 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7857289
rs776048732
652 R>Q No ClinGen
ExAC
gnomAD
CA394475465
rs1226102473
652 R>W No ClinGen
gnomAD
rs1443413821
CA394475457
653 H>N No ClinGen
gnomAD
rs772464755
CA7857288
653 H>Q No ClinGen
ExAC
gnomAD
CA7857287
rs61732498
654 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774881995
CA7857286
656 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1395480195
CA394475370
657 H>N No ClinGen
gnomAD
CA394475347
rs1164256960
657 H>R No ClinGen
gnomAD
CA276904926
rs1020916445
659 E>G No ClinGen
TOPMed
gnomAD
CA7857284
rs375351983
660 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7857282
rs571695694
CA7857281
661 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1195242299
CA394475208
662 Q>R No ClinGen
TOPMed
gnomAD
CA7857279
rs754921211
664 Q>E No ClinGen
ExAC
gnomAD
rs758560016
CA276904899
664 Q>L No ClinGen
Ensembl
rs1218760627
CA394475159
665 A>V No ClinGen
gnomAD
CA7857277
rs367824847
666 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1182237524
CA394475128
667 P>S No ClinGen
TOPMed
gnomAD
rs1182237524
CA394475136
667 P>T No ClinGen
TOPMed
gnomAD
CA7857276
rs758225857
668 P>A No ClinGen
ExAC
CA7857274
rs750064699
668 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA394475105
rs750064699
668 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs761379857
CA7857272
670 E>* No ClinGen
ExAC
gnomAD
CA394475066
rs1443564235
670 E>A No ClinGen
gnomAD
CA7857273
COSM228636
rs761379857
670 E>K skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs991355563
CA276904855
671 C>Y No ClinGen
Ensembl
CA7857269
rs760152016
672 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7857270
rs760152016
672 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs775039187
CA7857268
673 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA276904842
rs745746195
674 C>G No ClinGen
Ensembl
rs773482636
CA7857265
675 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA7857266
rs773482636
675 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA7857267
rs771403712
675 G>R No ClinGen
ExAC
gnomAD
CA394474936
rs1290363838
676 K>E No ClinGen
TOPMed
CA394474924
rs769915465
676 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1596280952
CA394474929
676 K>R No ClinGen
Ensembl
rs1233175141
CA394474898
678 F>V No ClinGen
TOPMed
rs748198559
CA7857263
680 R>H No ClinGen
ExAC
gnomAD
rs1189059559
CA394474859
681 S>G No ClinGen
gnomAD
rs868209907
CA276904788
681 S>N No ClinGen
Ensembl
CA7857260
rs563054332
685 L>P No ClinGen
1000Genomes
ExAC
gnomAD
rs370252082
CA7857259
686 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376988167
CA276904752
687 H>Q No ClinGen
ESP
CA7857258
rs555768061
688 L>V No ClinGen
1000Genomes
ExAC
gnomAD
rs903221467
CA276904743
692 T>A No ClinGen
Ensembl
rs756884410
CA7857255
693 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA7857254
rs753350310
693 G>V No ClinGen
ExAC
gnomAD
rs535883956
CA276904710
694 A>D No ClinGen
gnomAD
rs185364182
CA276904716
694 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs185364182
CA7857252
694 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs185364182
CA7857253
694 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394474713
rs535883956
694 A>V No ClinGen
gnomAD
rs752102720
CA7857251
695 R>K No ClinGen
ExAC
gnomAD
rs897538463
CA276904690
696 P>T No ClinGen
TOPMed
gnomAD
rs763312640
CA394474630
700 T>M No ClinGen
ExAC
gnomAD
CA7857249
rs763312640
700 T>R No ClinGen
ExAC
gnomAD
CA7857246
rs761968967
704 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1434973738
CA394474602
704 R>H No ClinGen
gnomAD
rs1012270016
CA276904673
709 N>K No ClinGen
TOPMed
gnomAD
rs1483845542
CA394474506
710 S>C No ClinGen
TOPMed
gnomAD
rs1255820577
CA394474499
711 H>D No ClinGen
gnomAD
TCGA novel 714 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1278999386
CA394474455
714 R>L No ClinGen
gnomAD
CA7857244
rs768699536
717 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768699536
CA394474386
717 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA394474321
rs1333379489
720 A>D No ClinGen
TOPMed
CA7857242
rs779961203
720 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs141059976
CA7857241
721 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs910483646
CA276904649
722 E>* No ClinGen
TOPMed
gnomAD
CA394474297
rs910483646
722 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1487891731
CA394474275
723 T>A No ClinGen
TOPMed
rs1476570522
CA394474253
725 Y>H No ClinGen
gnomAD

No associated diseases with Q96SZ4

1 regional properties for Q96SZ4

Type Name Position InterPro Accession
domain Small GTP-binding protein domain 21 - 165 IPR005225

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

5 GO annotations of molecular function

Name Definition
DNA-binding transcription factor activity A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
metal ion binding Binding to a metal ion.
RNA polymerase II cis-regulatory region sequence-specific DNA binding Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific DNA binding Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.

2 GO annotations of biological process

Name Definition
negative regulation of DNA-templated transcription Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.

178 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q08DS3 OSR1 Protein odd-skipped-related 1 Bos taurus (Bovine) PR
Q2VWH6 FEZF2 Fez family zinc finger protein 2 Bos taurus (Bovine) PR
A6QNZ0 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Bos taurus (Bovine) PR
A7MBI1 ZFP69 Zinc finger protein 69 homolog Bos taurus (Bovine) PR
Q08705 CTCF Transcriptional repressor CTCF Gallus gallus (Chicken) PR
O42409 GFI1B Zinc finger protein Gfi-1b Gallus gallus (Chicken) PR
A2T6W2 ZNF449 Zinc finger protein 449 Pan troglodytes (Chimpanzee) PR
Q9U405 grau Transcription factor grauzone Drosophila melanogaster (Fruit fly) PR
Q7K0S9 sug Zinc finger protein GLIS2 homolog Drosophila melanogaster (Fruit fly) PR
P20385 Cf2 Chorion transcription factor Cf2 Drosophila melanogaster (Fruit fly) PR
Q86P48 ATbp AT-rich binding protein Drosophila melanogaster (Fruit fly) PR
P28698 MZF1 Myeloid zinc finger 1 Homo sapiens (Human) PR
Q9NTW7 ZFP64 Zinc finger protein 64 Homo sapiens (Human) PR
O14978 ZNF263 Zinc finger protein 263 Homo sapiens (Human) PR
O60304 ZNF500 Zinc finger protein 500 Homo sapiens (Human) PR
P08151 GLI1 Zinc finger protein GLI1 Homo sapiens (Human) PR
Q9UFB7 ZBTB47 Zinc finger and BTB domain-containing protein 47 Homo sapiens (Human) PR
P18146 EGR1 Early growth response protein 1 Homo sapiens (Human) PR
Q9Y5W3 KLF2 Krueppel-like factor 2 Homo sapiens (Human) PR
Q9UNY5 ZNF232 Zinc finger protein 232 Homo sapiens (Human) PR
P17028 ZNF24 Zinc finger protein 24 Homo sapiens (Human) PR
P57682 KLF3 Krueppel-like factor 3 Homo sapiens (Human) PR
P25490 YY1 Transcriptional repressor protein YY1 Homo sapiens (Human) SS
P49711 CTCF Transcriptional repressor CTCF Homo sapiens (Human) PR
Q9NQX1 PRDM5 PR domain zinc finger protein 5 Homo sapiens (Human) PR
Q9HBE1 PATZ1 POZ-, AT hook-, and zinc finger-containing protein 1 Homo sapiens (Human) PR
Q8TAX0 OSR1 Protein odd-skipped-related 1 Homo sapiens (Human) PR
Q9UL58 ZNF215 Zinc finger protein 215 Homo sapiens (Human) PR
Q8TBJ5 FEZF2 Fez family zinc finger protein 2 Homo sapiens (Human) PR
Q96SR6 ZNF382 Zinc finger protein 382 Homo sapiens (Human) PR
Q96IT1 ZNF496 Zinc finger protein 496 Homo sapiens (Human) PR
Q96N95 ZNF396 Zinc finger protein 396 Homo sapiens (Human) PR
Q9ULJ3 ZBTB21 Zinc finger and BTB domain-containing protein 21 Homo sapiens (Human) PR
O75840 KLF7 Krueppel-like factor 7 Homo sapiens (Human) PR
Q9H9D4 ZNF408 Zinc finger protein 408 Homo sapiens (Human) PR
Q13127 REST RE1-silencing transcription factor Homo sapiens (Human) PR
Q8IZM8 ZNF654 Zinc finger protein 654 Homo sapiens (Human) PR
Q14526 HIC1 Hypermethylated in cancer 1 protein Homo sapiens (Human) PR
P17022 ZNF18 Zinc finger protein 18 Homo sapiens (Human) PR
Q86XF7 ZNF575 Zinc finger protein 575 Homo sapiens (Human) PR
Q06889 EGR3 Early growth response protein 3 Homo sapiens (Human) PR
Q8NAM6 ZSCAN4 Zinc finger and SCAN domain-containing protein 4 Homo sapiens (Human) PR
P17029 ZKSCAN1 Zinc finger protein with KRAB and SCAN domains 1 Homo sapiens (Human) PR
Q8N680 ZBTB2 Zinc finger and BTB domain-containing protein 2 Homo sapiens (Human) PR
O95625 ZBTB11 Zinc finger and BTB domain-containing protein 11 Homo sapiens (Human) PR
Q9NPC7 MYNN Myoneurin Homo sapiens (Human) PR
Q8NF99 ZNF397 Zinc finger protein 397 Homo sapiens (Human) PR
Q63HK3 ZKSCAN2 Zinc finger protein with KRAB and SCAN domains 2 Homo sapiens (Human) PR
Q15776 ZKSCAN8 Zinc finger protein with KRAB and SCAN domains 8 Homo sapiens (Human) PR
Q53GI3 ZNF394 Zinc finger protein 394 Homo sapiens (Human) PR
O95125 ZNF202 Zinc finger protein 202 Homo sapiens (Human) PR
Q05516 ZBTB16 Zinc finger and BTB domain-containing protein 16 Homo sapiens (Human) PR
Q9H116 GZF1 GDNF-inducible zinc finger protein 1 Homo sapiens (Human) PR
Q8N0Y2 ZNF444 Zinc finger protein 444 Homo sapiens (Human) PR
Q6P9G9 ZNF449 Zinc finger protein 449 Homo sapiens (Human) PR
Q8IW36 ZNF695 Zinc finger protein 695 Homo sapiens (Human) PR
Q5VTD9 GFI1B Zinc finger protein Gfi-1b Homo sapiens (Human) PR
Q9NQV6 PRDM10 PR domain zinc finger protein 10 Homo sapiens (Human) PR
Q9Y2D9 ZNF652 Zinc finger protein 652 Homo sapiens (Human) PR
Q5TC79 ZBTB37 Zinc finger and BTB domain-containing protein 37 Homo sapiens (Human) PR
Q9Y4E5 ZNF451 E3 SUMO-protein ligase ZNF451 Homo sapiens (Human) PR
Q8ND82 ZNF280C Zinc finger protein 280C Homo sapiens (Human) PR
Q49AA0 ZFP69 Zinc finger protein 69 homolog Homo sapiens (Human) PR
O43298 ZBTB43 Zinc finger and BTB domain-containing protein 43 Homo sapiens (Human) PR
Q9Y330 ZBTB12 Zinc finger and BTB domain-containing protein 12 Homo sapiens (Human) PR
Q13105 ZBTB17 Zinc finger and BTB domain-containing protein 17 Homo sapiens (Human) PR
Q9BRR0 ZKSCAN3 Zinc finger protein with KRAB and SCAN domains 3 Homo sapiens (Human) PR
Q969J2 ZKSCAN4 Zinc finger protein with KRAB and SCAN domains 4 Homo sapiens (Human) PR
P49910 ZNF165 Zinc finger protein 165 Homo sapiens (Human) PR
Q9Y4X4 KLF12 Krueppel-like factor 12 Homo sapiens (Human) PR
P10074 ZBTB48 Telomere zinc finger-associated protein Homo sapiens (Human) PR
P17010 ZFX Zinc finger X-chromosomal protein Homo sapiens (Human) PR
Q9H5H4 ZNF768 Zinc finger protein 768 Homo sapiens (Human) PR
Q6NSZ9 ZSCAN25 Zinc finger and SCAN domain-containing protein 25 Homo sapiens (Human) PR
Q86UZ6 ZBTB46 Zinc finger and BTB domain-containing protein 46 Homo sapiens (Human) PR
Q9NX65 ZSCAN32 Zinc finger and SCAN domain-containing protein 32 Homo sapiens (Human) PR
O14771 ZNF213 Zinc finger protein 213 Homo sapiens (Human) PR
Q8IWY8 ZSCAN29 Zinc finger and SCAN domain-containing protein 29 Homo sapiens (Human) PR
Q8NCP5 ZBTB44 Zinc finger and BTB domain-containing protein 44 Homo sapiens (Human) PR
P41182 BCL6 B-cell lymphoma 6 protein Homo sapiens (Human) PR
Q9NQX0 PRDM6 Putative histone-lysine N-methyltransferase PRDM6 Homo sapiens (Human) PR
Q9BU19 ZNF692 Zinc finger protein 692 Homo sapiens (Human) PR
Q08AG5 ZNF844 Zinc finger protein 844 Homo sapiens (Human) PR
Q6R2W3 ZBED9 SCAN domain-containing protein 3 Homo sapiens (Human) PR
P98182 ZNF200 Zinc finger protein 200 Homo sapiens (Human) PR
O15156 ZBTB7B Zinc finger and BTB domain-containing protein 7B Homo sapiens (Human) PR
Q6ZMS7 ZNF783 Zinc finger protein 783 Homo sapiens (Human) PR
P59923 ZNF445 Zinc finger protein 445 Homo sapiens (Human) PR
Q8N859 ZNF713 Zinc finger protein 713 Homo sapiens (Human) PR
Q99612 KLF6 Krueppel-like factor 6 Homo sapiens (Human) PR
Q8TD17 ZNF398 Zinc finger protein 398 Homo sapiens (Human) PR
P52739 ZNF131 Zinc finger protein 131 Homo sapiens (Human) PR
A6NGD5 ZSCAN5C Zinc finger and SCAN domain-containing protein 5C Homo sapiens (Human) PR
Q05215 EGR4 Early growth response protein 4 Homo sapiens (Human) PR
Q7Z398 ZNF550 Zinc finger protein 550 Homo sapiens (Human) PR
Q9Y2K1 ZBTB1 Zinc finger and BTB domain-containing protein 1 Homo sapiens (Human) PR
Q96N20 ZNF75A Zinc finger protein 75A Homo sapiens (Human) PR
A6NJL1 ZSCAN5B Zinc finger and SCAN domain-containing protein 5B Homo sapiens (Human) PR
A1YPR0 ZBTB7C Zinc finger and BTB domain-containing protein 7C Homo sapiens (Human) PR
Q9NWS9 ZNF446 Zinc finger protein 446 Homo sapiens (Human) PR
P24278 ZBTB25 Zinc finger and BTB domain-containing protein 25 Homo sapiens (Human) PR
Q96N38 ZNF714 Zinc finger protein 714 Homo sapiens (Human) PR
Q86YH2 ZNF280B Zinc finger protein 280B Homo sapiens (Human) PR
Q96BV0 ZNF775 Zinc finger protein 775 Homo sapiens (Human) PR
Q9UK11 ZNF223 Zinc finger protein 223 Homo sapiens (Human) PR
Q6PG37 ZNF790 Zinc finger protein 790 Homo sapiens (Human) PR
O43296 ZNF264 Zinc finger protein 264 Homo sapiens (Human) PR
Q08ER8 ZNF543 Zinc finger protein 543 Homo sapiens (Human) PR
Q5JNZ3 ZNF311 Zinc finger protein 311 Homo sapiens (Human) PR
Q9Y2L8 ZKSCAN5 Zinc finger protein with KRAB and SCAN domains 5 Homo sapiens (Human) PR
Q5FWF6 ZNF789 Zinc finger protein 789 Homo sapiens (Human) PR
P51508 ZNF81 Zinc finger protein 81 Homo sapiens (Human) PR
O08584 Klf6 Krueppel-like factor 6 Mus musculus (Mouse) PR
Q61164 Ctcf Transcriptional repressor CTCF Mus musculus (Mouse) PR
Q810A1 Znf18 Zinc finger protein 18 Mus musculus (Mouse) PR
Q8BGS3 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Mus musculus (Mouse) PR
Q00899 Yy1 Transcriptional repressor protein YY1 Mus musculus (Mouse) PR
P41183 Bcl6 B-cell lymphoma 6 protein homolog Mus musculus (Mouse) PR
Q9DAI4 Zbtb43 Zinc finger and BTB domain-containing protein 43 Mus musculus (Mouse) PR
O70237 Gfi1b Zinc finger protein Gfi-1b Mus musculus (Mouse) PR
Q99KZ6 Znf639 Zinc finger protein 639 Mus musculus (Mouse) PR
Q9Z1D9 Znf394 Zinc finger protein 394 Mus musculus (Mouse) PR
Q9CXE0 Prdm5 PR domain zinc finger protein 5 Mus musculus (Mouse) PR
P43300 Egr3 Early growth response protein 3 Mus musculus (Mouse) PR
Q9DAU9 Znf654 Zinc finger protein 654 Mus musculus (Mouse) PR
Q9R1Y5 Hic1 Hypermethylated in cancer 1 protein Mus musculus (Mouse) PR
Q8R0T2 Znf768 Zinc finger protein 768 Mus musculus (Mouse) PR
Q9WVG7 Osr1 Protein odd-skipped-related 1 Mus musculus (Mouse) PR
Q8BI73 Znf775 Zinc finger protein 775 Mus musculus (Mouse) PR
Q8VCZ7 Zbtb7c Zinc finger and BTB domain-containing protein 7C Mus musculus (Mouse) PR
Q91VN1 Znf24 Zinc finger protein 24 Mus musculus (Mouse) PR
Q9DB38 Znf580 Zinc finger protein 580 Mus musculus (Mouse) PR
A7KBS4 Zscan4d Zinc finger and SCAN domain containing protein 4D Mus musculus (Mouse) PR
Q91VW9 Zkscan3 Zinc finger protein with KRAB and SCAN domains 3 Mus musculus (Mouse) PR
P10925 Zfy1 Zinc finger Y-chromosomal protein 1 Mus musculus (Mouse) PR
P08046 Egr1 Early growth response protein 1 Mus musculus (Mouse) PR
Q3TTC2 Yy2 Transcription factor YY2 Mus musculus (Mouse) PR
Q3UTQ7 Prdm10 PR domain zinc finger protein 10 Mus musculus (Mouse) PR
Q6P3Y5 Znf280c Zinc finger protein 280C Mus musculus (Mouse) PR
Q9ERU3 Znf22 Zinc finger protein 22 Mus musculus (Mouse) PR
Q8VIG1 Rest RE1-silencing transcription factor Mus musculus (Mouse) PR
Q9Z1D8 Zkscan5 Zinc finger protein with KRAB and SCAN domains 5 Mus musculus (Mouse) PR
Q8BID6 Zbtb46 Zinc finger and BTB domain-containing protein 46 Mus musculus (Mouse) PR
P17012 Zfx Zinc finger X-chromosomal protein Mus musculus (Mouse) PR
Q9WUK6 Zbtb18 Zinc finger and BTB domain-containing protein 18 Mus musculus (Mouse) PR
O35738 Klf12 Krueppel-like factor 12 Mus musculus (Mouse) PR
B2RXC5 Znf382 Zinc finger protein 382 Mus musculus (Mouse) PR
O08900 Ikzf3 Zinc finger protein Aiolos Mus musculus (Mouse) PR
Q5DU09 Znf652 Zinc finger protein 652 Mus musculus (Mouse) PR
Q5RJ54 Zscan26 Zinc finger and SCAN domain-containing protein 26 Mus musculus (Mouse) PR
Q8BLM0 Klf8 Krueppel-like factor 8 Mus musculus (Mouse) PR
Q99JB0 Klf7 Krueppel-like factor 7 Mus musculus (Mouse) PR
Q8R0A2 Zbtb44 Zinc finger and BTB domain-containing protein 44 Mus musculus (Mouse) PR
P20662 Zfy2 Zinc finger Y-chromosomal protein 2 Mus musculus (Mouse) PR
Q80VJ6 Zscan4c Zinc finger and SCAN domain containing protein 4C Mus musculus (Mouse) PR
Q3URS2 Zscan4f Zinc finger and SCAN domain containing protein 4F Mus musculus (Mouse) PR
Q60980 Klf3 Krueppel-like factor 3 Mus musculus (Mouse) PR
Q8K3J5 Znf131 Zinc finger protein 131 Mus musculus (Mouse) PR
Q9Z2K3 Znf394 Zinc finger protein 394 Rattus norvegicus (Rat) PR
Q642B9 Znf18 Zinc finger protein 18 Rattus norvegicus (Rat) PR
B0K011 Osr1 Protein odd-skipped-related 1 Rattus norvegicus (Rat) PR
D3ZUU2 Gzf1 GDNF-inducible zinc finger protein 1 Rattus norvegicus (Rat) PR
B1WBU4 Zbtb8a Zinc finger and BTB domain-containing protein 8A Rattus norvegicus (Rat) PR
Q7TNK3 Znf24 Zinc finger protein 24 Rattus norvegicus (Rat) PR
O35819 Klf6 Krueppel-like factor 6 Rattus norvegicus (Rat) PR
Q9R1D1 Ctcf Transcriptional repressor CTCF Rattus norvegicus (Rat) PR
P43301 Egr3 Early growth response protein 3 Rattus norvegicus (Rat) PR
P08154 Egr1 Early growth response protein 1 Rattus norvegicus (Rat) PR
A0JPL0 Znf382 Zinc finger protein 382 Rattus norvegicus (Rat) PR
Q4KLI1 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Rattus norvegicus (Rat) PR
A1L1J6 Znf652 Zinc finger protein 652 Rattus norvegicus (Rat) PR
Q9SHD0 ZAT4 Zinc finger protein ZAT4 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LFU0 DOT3 BTB/POZ domain-containing protein DOT3 Arabidopsis thaliana (Mouse-ear cress) PR
Q0P4X6 zbtb44 Zinc finger and BTB domain-containing protein 44 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
A4II20 egr1 Early growth response protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6P882 zbtb8a.2 Zinc finger and BTB domain-containing protein 8A.2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q567C6 znf367 Zinc finger protein 367 Danio rerio (Zebrafish) (Brachydanio rerio) PR
A7Y7X5 znf711 Zinc finger protein 711 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MGPRASLSRL RELCGHWLRP ALHTKKQILE LLVLEQFLSV LPPHLLGRLQ GQPLRDGEEV
70 80 90 100 110 120
VLLLEGIHRE PSHAGPLDFS CNAGKSCPRA DVTLEEKGCA SQVPSHSPKK ELPAEEPSVL
130 140 150 160 170 180
GPSDEPPRPQ PRAAQPAEPG QWRLPPSSKQ PLSPGPQKTF QALQESSPQG PSPWPEESSR
190 200 210 220 230 240
DQELAAVLEC LTFEDVPENK AWPAHPLGFG SRTPDKEEFK QEEPKGAAWP TPILAESQAD
250 260 270 280 290 300
SPGVPGEPCA QSLGRGAAAS GPGEDGSLLG SSEILEVKVA EGVPEPNPEL QFICADCGVS
310 320 330 340 350 360
FPQLSRLKAH QLRSHPAGRS FLCLCCGKSF GRSSILKLHM RTHTDERPHA CHLCGHRFRQ
370 380 390 400 410 420
SSHLSKHLLT HSSEPAFLCA ECGRGFQRRA SLVQHLLAHA QDQKPPCAPE SKAEAPPLTD
430 440 450 460 470 480
VLCSHCGQSF QRRSSLKRHL RIHARDKDRR SSEGSGSRRR DSDRRPFVCS DCGKAFRRSE
490 500 510 520 530 540
HLVAHRRVHT GERPFSCQAC GRSFTQSSQL VSHQRVHTGE KPYACPQCGK RFVRRASLAR
550 560 570 580 590 600
HLLTHGGPRP HHCTQCGKSF GQTQDLARHQ RSHTGEKPCR CSECGEGFSQ SAHLARHQRI
610 620 630 640 650 660
HTGEKPHACD TCGHRFRNSS NLARHRRSHT GERPYSCQTC GRSFRRNAHL RRHLATHAEP
670 680 690 700 710 720
GQEQAEPPQE CVECGKSFSR SCNLLRHLLV HTGARPYSCT QCGRSFSRNS HLLRHLRTHA
RETLY