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 Q8IWK6

Entry ID Method Resolution Chain Position Source
AF-Q8IWK6-F1 Predicted AlphaFoldDB

1149 variants for Q8IWK6

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV002547533
RCV001351661
CA2874388
rs770123865
50 R>G Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001326962
RCV002546205
rs1717464188
132 K>E Inborn genetic diseases [ClinVar] Yes ClinVar
dbSNP
RCV001054664
rs144574896
CA2874254
RCV002553778
157 R>Q Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001297717
rs1018423478
CA93527755
RCV002538493
208 T>A Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV001236596
CA2874020
RCV003166465
rs142865840
388 G>R Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002546227
RCV001327649
rs372207735
CA2873921
520 R>H Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs201873439
RCV001051868
RCV002553268
CA2873914
527 A>D Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002547547
rs140116910
RCV001352062
CA2873723
722 I>V Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001069998
CA2873644
rs149451001
RCV000787837
798 L>F Retinitis pigmentosa Retinitis pigmentosa (rp) [ClinVar, Ensembl] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001257836
rs562486549
CA2873602
RCV001035179
835 S>C Autosomal recessive retinitis pigmentosa [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs145912220
CA2873593
RCV001294870
RCV002538445
858 A>V Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs542362755
CA2873488
RCV002546108
RCV001323834
962 L>M Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs768003943
RCV001037558
CA2873477
RCV002551388
977 S>Y Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001071029
rs370347164
RCV002554616
CA2873410
1078 N>S Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001233926
rs766112442
RCV002563238
CA2873366
1152 K>Q Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA2873365
rs201521604
RCV002540183
RCV000899118
1153 M>T Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV002563795
CA356472339
RCV001233246
CA2873358
rs776705989
1161 Q>H Inborn genetic diseases [ClinVar] Yes ClinGen
ExAC
TOPMed
gnomAD
ClinVar
dbSNP
rs760737507
RCV002546225
RCV001327491
CA2873320
1222 R>G Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA2873289
rs142653146
RCV002563179
RCV001230188
1277 Q>R Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs147716223
CA2873269
RCV001041833
RCV002552504
1303 G>C Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA356508018
rs1320585612
4 P>R No ClinGen
TOPMed
rs1244956451
CA356508016
5 G>R No ClinGen
TOPMed
TCGA novel 6 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV001322895
rs1719643978
7 R>G No ClinVar
dbSNP
rs886775748
CA94061047
7 R>Q No ClinGen
TOPMed
gnomAD
rs1259148815
CA356507999
8 R>W No ClinGen
gnomAD
rs1336498787
CA356507979
11 A>G No ClinGen
TOPMed
gnomAD
rs1336498787
CA356507978
11 A>V No ClinGen
TOPMed
gnomAD
rs1312106646
CA356507975
12 Q>* No ClinGen
TOPMed
gnomAD
CA356507977
rs1312106646
12 Q>K No ClinGen
TOPMed
gnomAD
rs1451093446
CA356507972
12 Q>R No ClinGen
gnomAD
rs1415861816
CA356507964
13 P>Q No ClinGen
TOPMed
gnomAD
CA356507967
rs1334222250
13 P>S No ClinGen
gnomAD
rs1167244986
CA356507958
14 P>L No ClinGen
TOPMed
CA356507959
rs1167244986
14 P>R No ClinGen
TOPMed
rs186892593
CA2874405
18 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2874404
rs781095724
21 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1039926602
CA94061045
22 L>F No ClinGen
TOPMed
CA94061046
rs899791062
22 L>S No ClinGen
TOPMed
CA356507918
rs1188365810
22 L>V No ClinGen
TOPMed
gnomAD
rs946612775
CA94061044
23 A>V No ClinGen
TOPMed
gnomAD
CA356507900
rs1227413593
25 L>P No ClinGen
TOPMed
CA356507899
rs1227413593
25 L>R No ClinGen
TOPMed
rs1318494279
CA356507897
26 A>P No ClinGen
TOPMed
rs1302418626
CA356507893
26 A>V No ClinGen
TOPMed
gnomAD
CA356507878
rs1367175682
29 G>A No ClinGen
TOPMed
gnomAD
CA94061042
rs990259194
30 G>D No ClinGen
TOPMed
CA2874402
rs751553781
31 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA356507870
rs751553781
31 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA94061041
rs751553781
31 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1410509997
CA356507850
34 G>A No ClinGen
TOPMed
CA356507845
rs924625895
35 G>A No ClinGen
TOPMed
CA94061040
RCV001314498
rs924625895
35 G>D No ClinGen
ClinVar
TOPMed
dbSNP
rs1156517825
CA356507842
36 A>P No ClinGen
TOPMed
gnomAD
rs777241546
CA356507833
37 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1217227687
CA356507837
37 A>P No ClinGen
TOPMed
CA2874400
rs777241546
37 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1212942592
CA356507819
40 P>S No ClinGen
TOPMed
CA94061035
rs764874814
41 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs752306317
CA2874398
41 A>S No ClinGen
ExAC
gnomAD
CA2874397
rs764874814
41 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA356507809
rs1404505008
42 G>A No ClinGen
gnomAD
COSM3661036
CA2874395
rs555110508
42 G>C liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA356507808
rs1404505008
42 G>D No ClinGen
gnomAD
CA356507811
rs555110508
42 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs767966248
CA2874394
44 K>M No ClinGen
ExAC
gnomAD
rs774948198
CA2874393
44 K>N No ClinGen
ExAC
gnomAD
rs1479146029
CA356507787
45 H>Q No ClinGen
TOPMed
gnomAD
CA94061034
rs1017054129
45 H>R No ClinGen
TOPMed
CA2874391
rs768819559
46 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA356507785
rs768819559
46 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA2874389
rs775802126
47 G>E No ClinGen
ExAC
gnomAD
CA2874390
rs763133957
47 G>R No ClinGen
ExAC
gnomAD
CA94061032
rs1029272421
48 R>Q No ClinGen
TOPMed
rs1433867534
CA356507764
50 R>Q No ClinGen
TOPMed
rs1291221163
CA356507754
52 A>P No ClinGen
TOPMed
gnomAD
rs1230522457
CA356507743
54 R>G No ClinGen
gnomAD
rs1276990030
CA356507733
55 A>E No ClinGen
TOPMed
gnomAD
rs1336948214
CA356507734
55 A>S No ClinGen
gnomAD
rs1276990030
CA356507731
55 A>V No ClinGen
TOPMed
gnomAD
TCGA novel 56 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356507725
rs1284317363
RCV001314492
56 A>V No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA2874386
rs780815306
57 G>A No ClinGen
ExAC
gnomAD
CA2874387
rs537261703
57 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770806145
CA2874385
60 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1450022332
CA356507696
61 G>V No ClinGen
TOPMed
rs746870825
CA2874384
62 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs777717582
CA2874383
63 V>A No ClinGen
ExAC
rs1426064016
CA356507643
69 E>V No ClinGen
gnomAD
rs1189623947
CA356507638
70 L>F No ClinGen
gnomAD
rs752216538
CA2874381
71 A>T No ClinGen
ExAC
gnomAD
CA94061030
rs1039661126
71 A>V No ClinGen
TOPMed
CA356507629
rs569805222
72 Q>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs569805222
CA2874380
72 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA94061029
rs140236262
72 Q>R No ClinGen
ESP
TOPMed
gnomAD
CA356507617
rs1577395984
74 L>V No ClinGen
Ensembl
RCV001327684
CA2874377
rs374728383
75 P>S No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1280982513
CA356507603
76 P>L No ClinGen
gnomAD
CA2874376
rs558030696
77 D>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1368115045
CA356507592
78 T>I No ClinGen
gnomAD
rs1405482095
CA356507580
80 P>R No ClinGen
gnomAD
CA356507582
rs1439982796
80 P>S No ClinGen
gnomAD
rs1399501600
CA356507573
81 N>I No ClinGen
gnomAD
rs1399501600
CA356507575
81 N>S No ClinGen
gnomAD
rs1577395945
CA356507566
82 R>P No ClinGen
Ensembl
rs1347234888
CA356507561
83 T>M No ClinGen
TOPMed
gnomAD
rs1347234888
CA356507559
83 T>R No ClinGen
TOPMed
gnomAD
rs1360352632
CA356481272
90 N>K No ClinGen
gnomAD
TCGA novel 93 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs114456992
CA2874326
94 S>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel
rs1717941331
RCV001352575
94 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinVar
NCI-TCGA
dbSNP
TCGA novel 95 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs921364290
CA93538175
95 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA356481218
rs1164624337
98 N>S No ClinGen
gnomAD
CA356481217
rs1164624337
98 N>T No ClinGen
gnomAD
rs774095509
CA2874323
99 G>D No ClinGen
ExAC
gnomAD
CA2874322
rs768622040
100 S>* No ClinGen
ExAC
gnomAD
rs1577369846
CA356481200
101 F>S No ClinGen
Ensembl
rs976832762
CA93538164
108 E>G No ClinGen
TOPMed
TCGA novel 108 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1717939254
RCV001298179
109 R>S No ClinVar
dbSNP
rs1218545395
CA356481141
110 L>S No ClinGen
gnomAD
CA2874298
rs775315372
111 D>V No ClinGen
ExAC
gnomAD
COSM261138
rs776366061
CA2874295
113 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA356480542
rs1329833064
114 N>S No ClinGen
gnomAD
rs917865116
CA93534126
116 L>I No ClinGen
Ensembl
rs1404795712
CA356480520
117 I>S No ClinGen
gnomAD
CA356480482
rs1176537336
122 P>L No ClinGen
gnomAD
rs1313844190
CA356480458
126 W>* No ClinGen
TOPMed
rs1464214027
CA356480439
129 S>A No ClinGen
gnomAD
CA93531996
COSM109240
rs140443154
140 R>* Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1165791849
RCV001340893
140 R>L No ClinVar
dbSNP
rs1165791849
COSM1054562
CA356480055
140 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA2874263
rs114686229
RCV000886519
141 I>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1267974089
CA356480038
141 I>M No ClinGen
Ensembl
TCGA novel 142 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356480024
rs1193139320
143 C>G No ClinGen
gnomAD
rs142690763
RCV001204902
CA2874261
145 N>D No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1560326080
CA356479997
145 N>S No ClinGen
Ensembl
CA356479587
rs1242101958
147 D>N No ClinGen
TOPMed
rs542014008
CA2874259
RCV001326662
148 I>V No ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
CA356479546
rs1560326065
150 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 152 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA93531987
rs376845643
152 L>V No ClinGen
ESP
CA2874256
rs61736472
RCV001049332
154 N>S No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs903166194
CA93531980
155 L>V No ClinGen
Ensembl
CA2874255
rs147434497
157 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM733696
rs1218443503
CA356479045
159 N>K lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs753760901
CA2874242
159 N>S No ClinGen
ExAC
gnomAD
CA356479042
rs114895475
160 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2874241
rs114895475
160 L>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs994379710
CA93529060
161 S>L No ClinGen
Ensembl
rs1163248487
CA356479021
163 N>Y No ClinGen
TOPMed
CA356478959
rs1374833161
166 S>Y No ClinGen
gnomAD
CA2874238
rs767092568
167 S>A No ClinGen
ExAC
gnomAD
RCV001244106
rs1716874572
169 S>A No ClinVar
dbSNP
CA356478912
rs1577354487
170 Q>R No ClinGen
Ensembl
rs774010326
CA2874236
171 G>E No ClinGen
ExAC
gnomAD
CA356478885
rs1459802329
172 T>I No ClinGen
TOPMed
CA356478826
rs759901739
177 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs147262995
CA2874235
177 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759901739
CA2874234
177 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs771331276
CA2874232
178 S>L No ClinGen
ExAC
gnomAD
rs1177298597
CA356478783
180 R>Q No ClinGen
gnomAD
rs773134595
CA2874230
180 R>W No ClinGen
ExAC
gnomAD
CA356478773
rs1315357669
181 S>Y No ClinGen
gnomAD
TCGA novel 185 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2874199
RCV001297892
rs771978768
187 E>Q No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV001345305
rs1716782628
188 Y>S No ClinVar
dbSNP
rs1290029021
CA356478545
189 L>V No ClinGen
gnomAD
CA356478535
rs1490143852
190 L>F No ClinGen
gnomAD
rs546772345
CA2874198
191 C>F No ClinGen
1000Genomes
ExAC
CA356478509
rs1292210374
194 N>D No ClinGen
gnomAD
rs1455788291
CA356478505
194 N>T No ClinGen
gnomAD
rs1223419576
CA356478497
195 I>T No ClinGen
gnomAD
CA2874197
rs376148471
196 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1462380144
CA356478481
198 M>L No ClinGen
TOPMed
rs951469992
CA93527789
199 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs191604615
CA2874195
200 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA2874196
rs191604615
200 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA2874194
rs147390035
200 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2874193
rs769648494
204 E>K No ClinGen
ExAC
gnomAD
CA2874192
rs761890075
205 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs542554708
CA2874191
206 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA93527758
rs964191258
207 I>L No ClinGen
TOPMed
RCV001349368
CA2874189
rs149598012
208 T>M No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs141210874
CA2874186
RCV001305016
210 R>Q No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA2874187
rs575529822
210 R>W No ClinGen
1000Genomes
ExAC
gnomAD
rs1346605672
CA356478385
213 R>G No ClinGen
TOPMed
gnomAD
rs1217019843
CA356478374
214 C>S No ClinGen
gnomAD
RCV001327516
CA356478371
rs1264172149
214 C>W No ClinGen
ClinVar
TOPMed
dbSNP
rs907724711
CA93527733
217 P>H No ClinGen
gnomAD
rs907724711
CA356478352
217 P>L No ClinGen
gnomAD
rs766605600
CA2874185
222 A>T No ClinGen
ExAC
gnomAD
CA93527718
rs930614453
224 P>R No ClinGen
Ensembl
CA2874182
rs750838186
225 V>I No ClinGen
ExAC
gnomAD
CA356478306
rs750838186
225 V>L No ClinGen
ExAC
gnomAD
CA356478296
rs1168152504
226 T>I No ClinGen
gnomAD
CA2874180
rs762476240
227 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs368999398
CA356478289
228 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2874178
rs368999398
228 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356478275
rs1266596617
230 Q>* No ClinGen
gnomAD
CA356478268
rs1194184746
231 E>K No ClinGen
gnomAD
rs775809391
CA2874176
234 T>S No ClinGen
ExAC
gnomAD
rs181385852
CA2874148
236 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1252063250
CA356478234
236 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
RCV001339526
CA2874147
rs560712931
237 P>L No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs902854483
CA93526367
238 P>L No ClinGen
gnomAD
CA356477719
rs1175800415
240 E>Q No ClinGen
gnomAD
CA2874145
rs771512345
242 P>L No ClinGen
ExAC
gnomAD
CA356477644
rs1441926176
243 S>F No ClinGen
TOPMed
TCGA novel 244 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2874142
rs754627253
245 Y>C No ClinGen
ExAC
gnomAD
rs141526104
CA2874140
246 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA93526359
rs914286200
247 T>I No ClinGen
Ensembl
CA2874138
rs148364573
250 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2874137
rs145174089
251 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2874136
rs758890185
251 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA356477523
COSM1728373
rs758890185
251 R>L liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA2874134
rs200120620
253 V>G No ClinGen
1000Genomes
ExAC
gnomAD
rs1463183942
CA356477461
254 V>G No ClinGen
gnomAD
rs986688317
CA93526347
255 F>S No ClinGen
TOPMed
rs939413784
CA93526344
258 D>N No ClinGen
TOPMed
gnomAD
CA356477393
rs1167723845
259 S>G No ClinGen
gnomAD
TCGA novel 259 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs562864844
CA2874133
CA356477382
259 S>R No ClinGen
1000Genomes
ExAC
gnomAD
rs754083729
CA2874132
264 C>F No ClinGen
ExAC
gnomAD
rs1244343882
CA356477352
264 C>S No ClinGen
gnomAD
rs1467675518
CA356477345
265 M>V No ClinGen
gnomAD
CA356477324
rs1253044060
268 Y>H No ClinGen
gnomAD
CA2874131
rs766122065
269 I>T No ClinGen
ExAC
gnomAD
CA2874130
rs760467942
270 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA356477303
rs1214945769
271 Q>E No ClinGen
gnomAD
CA2874129
rs773047692
272 D>G No ClinGen
ExAC
gnomAD
CA2874127
rs372445132
CA356477283
273 M>I No ClinGen
ESP
ExAC
gnomAD
CA2874128
rs375429759
273 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200853804
CA93526309
280 D>G No ClinGen
1000Genomes
TOPMed
gnomAD
rs1186805080
CA356477226
281 G>E No ClinGen
gnomAD
CA356477221
rs1328363462
282 R>K No ClinGen
gnomAD
CA356477220
rs1328363462
282 R>T No ClinGen
gnomAD
rs1410950421
CA356477192
286 T>N No ClinGen
gnomAD
rs138542858
CA2874122
287 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2061699
CA2874120
RCV000952893
289 S>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2874118
rs758909833
291 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA356477156
rs1019095837
292 I>L No ClinGen
TOPMed
rs1019095837
CA93526273
292 I>V No ClinGen
TOPMed
CA2874117
rs201250338
296 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 297 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs149071206
CA2874116
297 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA93526272
rs1012984343
298 M>V No ClinGen
Ensembl
CA356477082
rs1560319199
302 C>S No ClinGen
Ensembl
CA356477079
rs1348533415
302 C>Y No ClinGen
gnomAD
CA356477072
rs1236595571
303 S>C No ClinGen
gnomAD
rs755046461
CA2874115
303 S>P No ClinGen
ExAC
gnomAD
CA93526262
rs753993728
305 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA2874113
rs766572844
305 I>M No ClinGen
ExAC
gnomAD
CA2874114
rs753993728
305 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA356477056
rs1443161336
306 A>E No ClinGen
TOPMed
gnomAD
rs1443161336
CA356477055
306 A>G No ClinGen
TOPMed
gnomAD
CA356482814
rs1208066767
311 I>T No ClinGen
TOPMed
CA93529142
rs367781640
313 N>K No ClinGen
ESP
CA356482801
rs1159226684
313 N>S No ClinGen
gnomAD
RCV001207220
rs1716480565
316 A>D No ClinVar
dbSNP
CA2874090
rs144997202
RCV001042433
316 A>P No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs144997202
CA2874091
316 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2874089
rs756306946
317 G>E No ClinGen
ExAC
gnomAD
rs750665555
CA2874088
318 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs757003096
CA356482769
319 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs548920791
CA93529117
319 T>I No ClinGen
1000Genomes
CA2874086
rs757003096
319 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1045072095
CA93529112
322 W>* No ClinGen
Ensembl
rs751453660
CA2874085
323 G>D No ClinGen
ExAC
gnomAD
CA2874084
rs763921566
324 C>Y No ClinGen
ExAC
gnomAD
rs1007105687
CA93529088
326 V>F No ClinGen
TOPMed
rs763054287
CA2874083
327 Q>* No ClinGen
ExAC
gnomAD
rs775111076
CA2874082
330 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2874081
RCV001067375
rs150340074
330 R>H No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001044534
CA2874080
rs140303157
331 G>A No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs776179924
CA2874079
333 N>D No ClinGen
ExAC
gnomAD
rs772414820
CA2874078
333 N>I No ClinGen
ExAC
rs1380838808
RCV001246318
334 T>M No ClinVar
dbSNP
CA356482670
rs1380838808
334 T>R No ClinGen
gnomAD
CA2874076
rs774838047
336 T>N No ClinGen
ExAC
gnomAD
rs1560316934
CA356482629
341 V>I No ClinGen
Ensembl
rs1168073178
CA356482607
344 S>G No ClinGen
gnomAD
CA356482604
rs1427630925
344 S>N No ClinGen
gnomAD
CA356482599
RCV001212008
rs1448310207
345 S>P No ClinGen
ClinVar
TOPMed
dbSNP
CA2874074
rs749843781
346 A>T No ClinGen
ExAC
gnomAD
rs1042158327
CA93529044
348 Y>C No ClinGen
TOPMed
CA356482570
rs1294703932
349 C>S No ClinGen
TOPMed
COSM3825687
rs147843055
CA2874072
RCV000923226
COSM1239012
350 P>L oesophagus large_intestine breast [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs757554862
CA2874069
353 R>S No ClinGen
ExAC
gnomAD
CA356482539
rs1469092660
354 V>L No ClinGen
TOPMed
gnomAD
rs1469092660
CA356482541
354 V>M No ClinGen
TOPMed
gnomAD
rs1225707325
CA356482534
355 V>L No ClinGen
gnomAD
RCV001297284
rs1307282344
CA356482510
358 K>T No ClinGen
ClinVar
dbSNP
gnomAD
rs758392440
CA2874066
361 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1198602965
CA356482484
362 R>G No ClinGen
TOPMed
rs1716406956
RCV001210860
364 P>L No ClinVar
dbSNP
CA2874040
rs764372193
364 P>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 365 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV001237326
CA2874039
rs200053006
366 T>A No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs866442647
CA93528030
368 A>S No ClinGen
Ensembl
rs770277871
CA2874037
368 A>V No ClinGen
ExAC
gnomAD
rs776553108
CA2874035
369 G>A No ClinGen
ExAC
gnomAD
CA2874036
rs186079507
369 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778147136
CA2874032
371 T>I No ClinGen
ExAC
gnomAD
rs747944751
CA2874030
372 A>T No ClinGen
ExAC
gnomAD
CA356482396
rs1289761104
374 L>P No ClinGen
gnomAD
CA356482374
rs1407221276
377 T>M No ClinGen
TOPMed
rs535789557
RCV001236608
CA2874026
378 R>Q No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA2874027
rs147674998
RCV001060811
378 R>W No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA356482365
rs1313662497
379 N>S No ClinGen
TOPMed
rs749982044
CA2874024
380 T>P No ClinGen
ExAC
gnomAD
rs1363480860
CA356482358
380 T>S No ClinGen
gnomAD
rs1377478870
CA356482352
381 H>R No ClinGen
TOPMed
rs1453057207
CA356482345
382 G>D No ClinGen
gnomAD
CA2874022
rs567943236
386 Y>F No ClinGen
1000Genomes
ExAC
gnomAD
CA356482309
rs1474458118
387 P>L No ClinGen
gnomAD
rs1393588101
CA356482282
391 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA356482285
rs1374772747
391 Q>R No ClinGen
TOPMed
CA93527951
rs904397261
393 E>K No ClinGen
TOPMed
rs759913509
CA2874019
395 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1271007842
COSM3132826
CA356482232
COSM3825686
398 R>H Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
RCV001305342
rs770852914
CA2874017
399 R>I No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs537910946
CA93527940
401 D>G No ClinGen
1000Genomes
TOPMed
gnomAD
CA356482186
rs1269694285
405 F>C No ClinGen
gnomAD
rs1231054427
CA356482174
407 A>T No ClinGen
gnomAD
rs148523163
CA2874016
408 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2874015
rs190663255
408 D>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs892565695
CA93527927
409 D>E No ClinGen
TOPMed
gnomAD
CA2874013
rs748422868
411 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA356482137
rs1381776989
412 S>F No ClinGen
gnomAD
rs774236322
RCV001237435
CA2874012
413 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA2874011
rs144734405
413 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748536522
CA93527916
416 Y>C No ClinGen
TOPMed
gnomAD
CA356482097
rs1417357563
COSM311557
418 N>S lung [Cosmic] No ClinGen
cosmic curated
gnomAD
RCV001069208
rs1417357563
418 N>T No ClinVar
dbSNP
CA356482092
rs1337010283
419 D>N No ClinGen
Ensembl
rs915267698
CA93527914
420 V>I No ClinGen
TOPMed
CA2874009
rs780050247
423 V>D No ClinGen
ExAC
gnomAD
CA93527904
rs989876254
424 L>I No ClinGen
Ensembl
CA356482053
rs1371909802
425 Y>C No ClinGen
gnomAD
rs1193094611
CA356482030
428 N>Y No ClinGen
gnomAD
rs1196119946
CA356481998
430 M>I No ClinGen
gnomAD
RCV001201416
rs1272053856
CA356482002
430 M>L No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs768277348
CA2873993
431 P>L No ClinGen
ExAC
gnomAD
rs1344234186
CA356481993
431 P>S No ClinGen
gnomAD
CA2873992
rs749092609
432 L>P No ClinGen
ExAC
gnomAD
CA93527325
rs185049428
434 L>F No ClinGen
1000Genomes
TOPMed
gnomAD
CA356481975
rs1275704907
434 L>H No ClinGen
gnomAD
CA356481974
rs1275704907
434 L>P No ClinGen
gnomAD
rs775212347
CA2873991
436 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA2873990
rs769737129
437 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs780634313
CA93527292
438 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs780634313
CA2873988
438 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA2873987
rs756794895
440 T>R No ClinGen
ExAC
gnomAD
rs758044902
CA2873985
442 R>L No ClinGen
ExAC
gnomAD
rs758044902
CA2873984
COSM1429170
442 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA2873983
rs754227219
443 Q>H No ClinGen
ExAC
gnomAD
CA2873981
rs756669320
446 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1191940597
CA356481902
447 Y>S No ClinGen
TOPMed
CA93527226
rs1042820988
448 T>I No ClinGen
TOPMed
gnomAD
CA356481898
rs1483906456
448 T>P No ClinGen
gnomAD
rs750997181
CA2873980
453 N>T No ClinGen
ExAC
gnomAD
rs767636238
CA2873979
455 S>A No ClinGen
ExAC
gnomAD
rs761996323
CA2873978
456 D>G No ClinGen
ExAC
gnomAD
CA356481840
rs1279121520
457 K>E No ClinGen
gnomAD
TCGA novel 457 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2873976
rs764369233
458 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA2873977
rs774626572
458 M>T No ClinGen
ExAC
TCGA novel 458 M>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775331061
CA2873975
459 D>G No ClinGen
ExAC
gnomAD
rs775331061
CA2873974
459 D>V No ClinGen
ExAC
gnomAD
CA2873973
RCV001213605
rs140136425
460 V>I No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2873972
rs554820677
461 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA2873971
rs776558396
462 F>S No ClinGen
ExAC
gnomAD
RCV001243529
CA2873969
CA2873970
rs146147575
463 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
ClinVar
dbSNP
CA93527134
rs76958962
464 A>E No ClinGen
Ensembl
CA356481756
rs1391604757
469 K>T No ClinGen
TOPMed
rs1473472971
CA356481747
470 F>C No ClinGen
gnomAD
CA356481751
rs1159438867
470 F>L No ClinGen
gnomAD
rs1156423477
CA356481739
471 G>V No ClinGen
gnomAD
rs1435340118
CA356481718
474 T>I No ClinGen
TOPMed
RCV001240572
rs1716349880
476 E>Q No ClinVar
dbSNP
CA356481694
rs1369276600
477 E>D No ClinGen
TOPMed
TCGA novel 480 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1239060075 481 E>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA356481667
rs1483553634
481 E>G No ClinGen
gnomAD
rs757813561
CA2873943
485 V>M No ClinGen
ExAC
gnomAD
rs1450787202
CA356481622
486 M>T No ClinGen
TOPMed
rs1322694737
CA356481606
488 D>V No ClinGen
gnomAD
CA2873942
rs752027303
489 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs569186866
CA2873941
489 I>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1715842817
RCV001225361
490 A>T No ClinVar
dbSNP
rs752909223
CA2873939
492 N>I No ClinGen
ExAC
gnomAD
CA356481569
rs1484819280
494 M>V No ClinGen
TOPMed
CA2873938
rs765436150
495 L>V No ClinGen
ExAC
gnomAD
rs759821657
CA2873937
497 D>E No ClinGen
ExAC
gnomAD
rs1324783599
CA356481549
497 D>N No ClinGen
gnomAD
CA2873936
rs551038567
499 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs551038567
CA93520512
499 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1168004015
CA356481532
499 R>H No ClinGen
TOPMed
gnomAD
CA2873935
rs368631510
500 V>F No ClinGen
ESP
ExAC
gnomAD
rs766992855
CA2873932
504 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs760613528
CA2873934
504 A>T No ClinGen
ExAC
gnomAD
rs766992855
CA2873933
504 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA356481479
rs1406341778
508 A>T No ClinGen
TOPMed
rs1046334786
CA93520465
509 K>E No ClinGen
Ensembl
rs138525539
CA2873929
RCV000888535
509 K>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA356481465
rs1267628742
510 A>G No ClinGen
TOPMed
gnomAD
CA2873928
rs748993423
510 A>T No ClinGen
ExAC
gnomAD
CA356481448
rs927971816
512 S>R No ClinGen
TOPMed
gnomAD
rs771450752
CA2873926
513 R>K No ClinGen
ExAC
gnomAD
rs1387020032
CA356481430
515 V>A No ClinGen
gnomAD
rs778158742
CA2873924
515 V>M No ClinGen
ExAC
gnomAD
CA356481425
rs1365267631
516 Q>R No ClinGen
TOPMed
rs201298150
CA93520366
517 C>Y No ClinGen
gnomAD
CA356481408
rs1436878617
519 Q>* No ClinGen
TOPMed
rs759006494
CA2873923
519 Q>R No ClinGen
ExAC
gnomAD
CA2873922
rs748176960
520 R>C No ClinGen
ExAC
gnomAD
CA356481398
rs372207735
520 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763848937
CA93520337
522 A>V No ClinGen
gnomAD
CA356481384
rs1355146073
523 T>A No ClinGen
TOPMed
rs1355146073
CA356481385
523 T>P No ClinGen
TOPMed
rs1577339736
CA356481376
524 Y>S No ClinGen
Ensembl
rs200043303
CA2873918
525 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA2873916
rs754246566
525 R>Q No ClinGen
ExAC
gnomAD
rs200043303
CA2873917
525 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs61745011
CA2873912
528 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763718218
CA2873911
530 A>T No ClinGen
ExAC
gnomAD
CA2873909
rs564893051
532 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2873908
rs368578310
535 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1318837353
CA356481123
536 Y>C No ClinGen
gnomAD
rs147996007
RCV001210667
CA2873891
536 Y>H No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs747895989
CA93517724
538 P>T No ClinGen
Ensembl
CA93517718
rs893860967
539 N>S No ClinGen
TOPMed
CA2873889
RCV001305588
rs759273052
541 A>S No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs773431146
CA2873888
541 A>V No ClinGen
ExAC
rs1479232242
CA356481075
544 A>S No ClinGen
TOPMed
gnomAD
rs1479232242
CA356481077
544 A>T No ClinGen
TOPMed
gnomAD
CA356481070
rs1371696798
545 Y>H No ClinGen
gnomAD
rs1474425391
CA356481053
547 I>T No ClinGen
gnomAD
CA356481056
rs1194329663
547 I>V No ClinGen
TOPMed
CA356481045
rs1368465165
548 K>M No ClinGen
gnomAD
rs762271006
CA2873886
550 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs762271006
CA356481035
550 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs774845797
CA2873885
551 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA2873884
rs769206447
551 G>V No ClinGen
ExAC
gnomAD
CA356481019
rs1269561753
553 T>A No ClinGen
gnomAD
COSM1429165
rs186077400
CA2873882
553 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA356481007
rs199947143
555 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2873878
rs199947143
555 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1246867013
CA356481000
556 T>P No ClinGen
gnomAD
RCV001341521
rs1246867013
CA356480998
556 T>S No ClinGen
ClinVar
dbSNP
gnomAD
CA2873877
rs751487183
557 C>R No ClinGen
ExAC
gnomAD
CA356480987
rs777841628
558 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA2873875
rs758478204
558 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA2873876
rs777841628
558 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs530568926
CA2873874
559 V>M No ClinGen
ExAC
gnomAD
rs143510925
CA2873873
RCV001327034
560 F>L No ClinGen
ESP
ExAC
gnomAD
ClinVar
dbSNP
CA2873872
rs759064703
562 K>E No ClinGen
ExAC
gnomAD
CA356480952
rs1371776203
563 V>A No ClinGen
gnomAD
CA356480949
rs753561919
564 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA2873871
rs753561919
564 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA2873870
rs767710429
564 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1191322487
CA356480943
565 A>G No ClinGen
gnomAD
rs910805841
CA93517624
565 A>T No ClinGen
gnomAD
CA93517615
rs753149268
566 S>F No ClinGen
TOPMed
gnomAD
rs1577337425
CA356480940
566 S>P No ClinGen
Ensembl
rs762150194
CA2873869
567 D>V No ClinGen
ExAC
gnomAD
rs375354992
CA2873867
568 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2873865
rs148867805
RCV000968574
568 R>H No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs148867805
CA356480928
568 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV001050839
CA2873866
rs148867805
568 R>P No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2873868
rs375354992
568 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2873863
rs200835396
569 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200835396
CA2873864
569 T>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771338422
CA2873861
570 G>R No ClinGen
ExAC
gnomAD
rs1300158966
CA356480911
572 S>A No ClinGen
TOPMed
gnomAD
RCV001213203
rs112799193
CA2873860
572 S>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1300158966
CA356480910
572 S>P No ClinGen
TOPMed
gnomAD
rs1577337375
CA356480903
573 D>G No ClinGen
Ensembl
CA356480906
rs1324620061
573 D>H No ClinGen
TOPMed
gnomAD
rs758388407
CA2873858
576 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA2873856
rs778250454
577 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs147833167
CA2873857
RCV001305057
577 R>W No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA356480872
rs1429873917
578 D>G No ClinGen
gnomAD
rs1429873917
CA356480871
578 D>V No ClinGen
gnomAD
rs754525035
CA2873855
585 K>N No ClinGen
ExAC
gnomAD
rs908940796
CA93517495
585 K>T No ClinGen
TOPMed
rs766047907
CA2873853
592 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA356480766
rs1246872554
593 V>D No ClinGen
gnomAD
CA2873850
rs754733366
RCV001240099
598 S>L No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA2873851
rs754733366
598 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs1205759122
CA356480722
600 L>V No ClinGen
gnomAD
CA356480718
rs1560307732
601 A>T No ClinGen
Ensembl
CA93517450
rs554426046
601 A>V No ClinGen
TOPMed
gnomAD
rs1217479488
CA356480713
602 L>V No ClinGen
gnomAD
TCGA novel 605 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1294568084
CA356480379
605 T>I No ClinGen
gnomAD
CA2873804
rs760853167
605 T>S No ClinGen
ExAC
gnomAD
CA356480375
rs1489072907
606 I>T No ClinGen
TOPMed
CA356480376
rs1225630558
606 I>V No ClinGen
gnomAD
CA2873803
rs750591769
607 V>M No ClinGen
ExAC
gnomAD
CA356480356
rs1208258136
609 A>S No ClinGen
TOPMed
rs763960292
CA2873801
610 S>VI* No ClinGen
ExAC
rs1364998880
CA356480337
612 Q>* No ClinGen
gnomAD
rs111319670
CA93511426
612 Q>R No ClinGen
Ensembl
rs1485856723
CA356480326
614 P>S No ClinGen
TOPMed
rs1189602021
CA356480316
615 P>L No ClinGen
TOPMed
CA93511412
rs955891778
RCV001237804
617 L>F No ClinGen
ClinVar
Ensembl
dbSNP
CA2873799
rs761987546
618 F>V No ClinGen
ExAC
gnomAD
rs1560304095
CA356480291
619 S>L No ClinGen
Ensembl
CA2873798
rs774143861
621 K>* No ClinGen
ExAC
gnomAD
rs1427964548
CA356480274
622 Q>P No ClinGen
gnomAD
rs1427964548
RCV001313121
CA356480273
622 Q>R No ClinGen
ClinVar
dbSNP
gnomAD
rs374035964
CA2873797
623 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA93511376
rs1000071093
624 R>G No ClinGen
Ensembl
rs202220872
CA93511372
625 E>K No ClinGen
Ensembl
CA356480246
rs1469532300
626 L>P No ClinGen
TOPMed
CA356480241
rs1159227390
627 R>K No ClinGen
TOPMed
CA356480234
rs1430526781
628 P>S No ClinGen
gnomAD
CA2873795
RCV001059562
rs201067452
629 T>A No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA2873794
RCV001053319
rs769779231
629 T>I No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA93511359
rs533683078
630 D>E No ClinGen
TOPMed
gnomAD
CA2873793
rs745377198
630 D>N No ClinGen
ExAC
gnomAD
CA356480216
rs1173247225
631 D>G No ClinGen
TOPMed
rs780722256
CA2873792
632 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA356480207
rs1342011699
633 L>I No ClinGen
gnomAD
rs1342011699
CA356480206
633 L>V No ClinGen
gnomAD
rs755306068
CA2873788
637 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA356480170
rs1483299979
638 L>F No ClinGen
gnomAD
CA2873786
rs754342871
639 I>T No ClinGen
ExAC
gnomAD
rs146115905
CA2873784
RCV001235074
642 R>C No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs750505698
COSM1054546
CA2873783
642 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750505698
CA356480144
642 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA2873785
rs146115905
642 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767514267
CA2873782
643 N>D No ClinGen
ExAC
gnomAD
CA93511321
rs767514267
643 N>H No ClinGen
ExAC
gnomAD
rs1409169570
CA356480141
643 N>S No ClinGen
gnomAD
TCGA novel 644 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356480128
rs1371018612
645 K>E No ClinGen
gnomAD
rs1577332662
CA356480115
645 K>N No ClinGen
Ensembl
CA2873781
rs367787883
645 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 645 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1560303935
CA356480099
647 F>I No ClinGen
Ensembl
CA2873778
rs765515331
648 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 648 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763890087
CA2873779
648 P>S No ClinGen
ExAC
gnomAD
rs752614746
CA93511286
651 G>E No ClinGen
Ensembl
rs1290085452
CA356480022
652 N>S No ClinGen
TOPMed
gnomAD
CA2873775
rs759521071
654 T>A No ClinGen
ExAC
gnomAD
CA2873774
rs563105823
654 T>I No ClinGen
1000Genomes
ExAC
gnomAD
CA2873773
rs544787330
655 N>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA356479979
rs1255105519
656 L>F No ClinGen
gnomAD
rs746608601
CA2873772
656 L>S No ClinGen
ExAC
gnomAD
rs777307868
CA356479978
657 A>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs777307868
CA2873771
657 A>T No ClinGen
ExAC
gnomAD
rs867880712
CA93511250
657 A>V No ClinGen
TOPMed
rs1715309231
RCV001220971
658 D>A No ClinVar
dbSNP
rs771817943
CA2873770
660 G>R No ClinGen
ExAC
gnomAD
CA356479951
rs1227494906
661 K>Q No ClinGen
gnomAD
rs1351094542
CA356479943
662 R>Q No ClinGen
gnomAD
CA93511205
rs940891886
663 R>C No ClinGen
gnomAD
rs767574676
CA93511200
663 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs532985930
CA93511197
664 T>A No ClinGen
1000Genomes
TOPMed
gnomAD
CA356479935
rs532985930
664 T>S No ClinGen
1000Genomes
TOPMed
gnomAD
rs754703389
CA93511173
665 V>A No ClinGen
gnomAD
RCV001244259
rs752436150
666 V>missing No ClinVar
dbSNP
TCGA novel 670 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356479881
rs1413427790
673 K>E No ClinGen
TOPMed
gnomAD
rs1184576559
CA356479880
673 K>T No ClinGen
gnomAD
CA2873765
rs781262046
674 I>M No ClinGen
ExAC
gnomAD
rs368424948
CA93511154
674 I>V No ClinGen
Ensembl
CA356479847
COSM1054545
rs1368342362
676 G>D endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
CA356479845
rs1368342362
676 G>V No ClinGen
gnomAD
rs771596646
CA2873752
677 V>M No ClinGen
ExAC
gnomAD
CA356479825
rs1445920836
680 D>Y No ClinGen
gnomAD
rs747821711
CA2873751
681 T>I No ClinGen
ExAC
gnomAD
CA356479793
rs1560303667
684 I>N No ClinGen
Ensembl
TCGA novel 685 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1332604226
CA356479758
689 T>I No ClinGen
TOPMed
CA2873746
rs775106705
RCV001308783
690 L>P No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs149970910
CA2873745
691 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149970910
CA356479752
691 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2873744
rs201944807
691 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1167154806
CA356479748
692 R>* No ClinGen
TOPMed
gnomAD
CA356479746
rs758572665
692 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA2873743
rs758572665
COSM176520
692 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2873741
rs764946459
693 I>T No ClinGen
ExAC
gnomAD
rs754785204
CA2873740
694 A>T No ClinGen
ExAC
gnomAD
CA356479732
rs1385446433
695 H>Y No ClinGen
gnomAD
CA356479721
rs1390734306
696 G>V No ClinGen
gnomAD
rs1053193878
CA93510861
697 A>V No ClinGen
TOPMed
CA2873737
rs760709986
698 D>G No ClinGen
ExAC
gnomAD
rs1715291846
RCV001207512
698 D>H No ClinVar
dbSNP
CA356479708
rs1472886257
699 A>T No ClinGen
gnomAD
COSM3409231
rs1387803603
CA356479702
700 V>I Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA2873736
rs772544398
701 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA2873735
rs572591405
702 A>G No ClinGen
1000Genomes
ExAC
gnomAD
rs774156010
CA2873733
703 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2873734
rs745775771
RCV001056091
703 R>W No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 704 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2873732
rs768480545
705 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA2873730
rs142367791
707 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2873728
rs747575122
RCV001344596
710 N>K No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA2873727
CA356479633
RCV001344152
rs777675128
711 G>R No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1715289393
RCV001202581
714 G>missing No ClinVar
dbSNP
CA93510775
rs948715025
714 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs772146024
CA2873726
715 W>* No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 719 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1314672624
CA356479526
720 C>* No ClinGen
gnomAD
CA356479510
rs1330865653
721 H>Q No ClinGen
gnomAD
CA2873724
rs561661155
721 H>R No ClinGen
ExAC
gnomAD
rs779952033
CA2873721
722 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1255931700
CA356479488
723 L>H No ClinGen
TOPMed
rs372587041
CA93510737
724 Y>C No ClinGen
ESP
TOPMed
gnomAD
rs755960877
CA2873720
728 N>S No ClinGen
ExAC
gnomAD
TCGA novel 731 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356479414
rs1421290700
731 T>M No ClinGen
TOPMed
gnomAD
rs1170411373
CA356479410
732 I>V No ClinGen
gnomAD
CA356479403
rs1477601827
733 Q>E No ClinGen
gnomAD
rs372920953
CA2873717
735 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2873716
rs751180630
736 S>F No ClinGen
ExAC
gnomAD
CA356479378
rs751180630
736 S>Y No ClinGen
ExAC
gnomAD
CA2873715
rs763806214
737 L>H No ClinGen
ExAC
gnomAD
rs762715861
CA2873714
738 S>T No ClinGen
ExAC
gnomAD
rs1204613361
CA356479352
740 Y>C No ClinGen
gnomAD
CA2873713
RCV001306924
rs776810635
741 A>G No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA356479332
rs1160048893
743 L>F No ClinGen
TOPMed
rs1233471138
CA356478071
746 L>S No ClinGen
TOPMed
RCV001063349
rs767983432
CA2873692
747 T>M No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA356478059
rs1338263672
748 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs774369733
CA2873690
749 S>F No ClinGen
ExAC
gnomAD
CA93495811
rs985889186
753 T>A No ClinGen
Ensembl
rs763701661
CA93495807
753 T>I No ClinGen
TOPMed
rs763701661
CA93495809
753 T>S No ClinGen
TOPMed
CA2873686
rs61736468
755 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781179280
CA2873684
757 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1444080461
CA356478003
757 S>T No ClinGen
TOPMed
gnomAD
rs757212411
CA2873682
759 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA93495773
rs962028246
761 P>A No ClinGen
Ensembl
CA356477956
rs1405326679
765 T>A No ClinGen
TOPMed
CA356477946
rs1313212730
766 T>I No ClinGen
gnomAD
CA2873679
rs757939413
767 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs200151762
CA93495759
768 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2873678
RCV000982965
rs200151762
768 I>V No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA93495736
rs888461384
770 L>V No ClinGen
Ensembl
CA93495724
rs202009640
771 L>P No ClinGen
gnomAD
rs1026919746
CA93495714
772 L>I No ClinGen
Ensembl
rs1309299292
CA356477899
773 C>R No ClinGen
TOPMed
CA2873677
rs764939986
774 L>I No ClinGen
ExAC
gnomAD
CA2873676
rs754628680
776 A>D No ClinGen
ExAC
gnomAD
rs200590610
CA2873674
777 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356477826
rs1437420221
778 I>V No ClinGen
gnomAD
rs759285934
CA356477795
780 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs759285934
CA2873673
780 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA2873671
rs764564057
782 I>M No ClinGen
ExAC
gnomAD
CA2873672
rs774847867
782 I>V No ClinGen
ExAC
gnomAD
CA356477746
rs1165502271
784 H>R No ClinGen
gnomAD
rs752771993
CA2873652
787 L>M No ClinGen
ExAC
gnomAD
CA93494323
rs1027252943
RCV001235998
787 L>S No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs765263100
CA2873651
788 I>V No ClinGen
ExAC
gnomAD
rs144842539
CA2873650
789 R>I No ClinGen
ESP
ExAC
rs1251579254
CA356477015
790 I>V No ClinGen
gnomAD
rs777181294
CA93494286
791 S>N No ClinGen
TOPMed
gnomAD
rs771337983
CA2873648
793 K>Q No ClinGen
ExAC
CA356476985
rs1282400692
794 S>N No ClinGen
gnomAD
CA2873647
rs760544324
794 S>R No ClinGen
ExAC
gnomAD
rs1347393129
CA356476971
796 H>Y No ClinGen
gnomAD
CA356476960
CA2873645
rs772026749
797 M>I No ClinGen
ExAC
gnomAD
rs772921916
CA2873646
797 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA2873642
rs375478986
799 V>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778449412
CA2873643
799 V>M No ClinGen
ExAC
TOPMed
gnomAD
RCV001206099
rs1714646783
803 F>C No ClinVar
dbSNP
rs532745434
CA2873641
804 H>L No ClinGen
1000Genomes
ExAC
gnomAD
CA2873640
rs779674920
805 I>T No ClinGen
ExAC
gnomAD
CA356476900
rs1432129952
806 F>C No ClinGen
gnomAD
rs76919858
CA93494237
807 L>P No ClinGen
Ensembl
CA93494230
rs773893970
809 C>S No ClinGen
Ensembl
rs755799959
CA2873639
811 V>F No ClinGen
ExAC
gnomAD
CA2873638
rs751897365
813 V>L No ClinGen
ExAC
TOPMed
CA356476856
rs1418955047
814 G>* No ClinGen
gnomAD
TCGA novel 814 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2873637
rs778019443
815 G>R No ClinGen
ExAC
gnomAD
rs1178362132
CA356476839
816 I>M No ClinGen
gnomAD
rs758897543
CA2873636
817 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA93494161
rs1053057775
818 Q>H No ClinGen
Ensembl
rs759676986
RCV001303222
CA2873633
819 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ClinVar
ExAC
NCI-TCGA
dbSNP
gnomAD
rs1577324720
CA356476801
822 A>V No ClinGen
Ensembl
CA2873604
rs763995383
828 V>I No ClinGen
ExAC
gnomAD
CA2873603
rs762898122
829 G>W No ClinGen
ExAC
rs1210975307
CA356476291
834 Y>C No ClinGen
TOPMed
rs1208009143
CA356476269
836 T>A No ClinGen
gnomAD
rs745467266
CA2873600
RCV001245556
836 T>I No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs776135006
CA2873599
838 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA356476233
rs1188388600
838 A>V No ClinGen
TOPMed
rs1246728107
CA356476219
840 V>I No ClinGen
TOPMed
gnomAD
rs1246728107
CA356476218
840 V>L No ClinGen
TOPMed
gnomAD
rs1366226630
CA356476184
843 V>I No ClinGen
TOPMed
rs1227219051
RCV001319026
CA356476138
847 A>T No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA93486082
rs966886838
848 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA356476096
rs1396674772
850 I>T No ClinGen
TOPMed
rs150741187
CA2873596
852 K>E No ClinGen
ESP
ExAC
gnomAD
rs117922332
RCV000968031
CA2873595
852 K>N No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs576433232
CA2873594
854 V>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1304493575
CA356476021
856 K>T No ClinGen
gnomAD
rs138826721
CA93486049
857 K>T No ClinGen
ESP
rs145912220
CA356475991
858 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 858 A>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1033366450
CA93486023
859 K>E No ClinGen
TOPMed
gnomAD
CA356475980
rs1310595425
860 R>I No ClinGen
TOPMed
RCV001351315
rs1714178209
862 Q>H No ClinVar
dbSNP
CA356475963
rs1166931783
862 Q>P No ClinGen
gnomAD
CA93486011
rs577682714
865 D>E No ClinGen
TOPMed
gnomAD
CA2873592
rs374755307
867 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
RCV001204679
rs374755307
CA2873591
867 P>T No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1714177282
RCV001062585
868 P>L No ClinVar
dbSNP
rs374191474
CA93485988
868 P>S No ClinGen
ESP
TOPMed
gnomAD
CA2873590
rs767600094
869 P>S No ClinGen
ExAC
gnomAD
CA356475899
rs1269498639
871 P>T No ClinGen
gnomAD
rs1270912911
CA356475861
874 M>I No ClinGen
gnomAD
CA2873589
rs112141640
874 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA356475848
rs1431270333
RCV001247430
875 L>P No ClinGen
ClinVar
dbSNP
gnomAD
rs1195477299
CA356475837
876 R>K No ClinGen
gnomAD
CA2873572
rs745910766
878 Y>C No ClinGen
ExAC
gnomAD
rs890100727
CA356475347
878 Y>D No ClinGen
TOPMed
CA93481901
rs890100727
878 Y>H No ClinGen
TOPMed
CA356475341
rs1175982894
879 L>V No ClinGen
TOPMed
gnomAD
rs781352594
CA2873571
881 G>D No ClinGen
ExAC
gnomAD
CA2873570
rs757380056
882 G>A No ClinGen
ExAC
TOPMed
gnomAD
RCV001227893
CA93481860
rs757380056
882 G>D No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA356475322
rs757380056
882 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA2873569
rs751782928
884 I>T No ClinGen
ExAC
gnomAD
rs1456908890
CA356475307
885 P>S No ClinGen
TOPMed
rs1560291579
CA356475303
886 I>L No ClinGen
Ensembl
rs1560291579
CA356475302
886 I>V No ClinGen
Ensembl
rs758176633
CA2873566
887 I>T No ClinGen
ExAC
gnomAD
CA2873562
rs753239712
890 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs765947339
CA2873561
891 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1407148896
CA356475257
893 A>S No ClinGen
gnomAD
TCGA novel 893 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1168753717
CA356475242
895 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA2873558
rs763374789
897 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA2873557
rs763374789
897 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA2873554
rs377710469
900 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746416100
RCV001337418
CA2873552
901 G>S No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs781064615
CA2873551
901 G>V No ClinGen
ExAC
CA2873550
RCV001318271
rs572491468
902 S>G No ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
rs1315719740
CA356475145
902 S>N No ClinGen
gnomAD
CA2873548
rs777967328
903 R>Q No ClinGen
ExAC
gnomAD
CA2873549
rs747149778
903 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1352247777
CA356475126
RCV001069792
904 P>A No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs1352247777
CA356475127
904 P>T No ClinGen
TOPMed
gnomAD
CA2873546
rs553984951
905 N>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs143611399
CA356475104
905 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs553984951
CA2873547
905 N>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2873544
rs754833054
906 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs754833054
CA93481602
906 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA93481581
rs915849022
907 P>H No ClinGen
TOPMed
rs190503014
CA2873543
907 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA356474985
rs1343631662
910 W>* No ClinGen
gnomAD
TCGA novel 912 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356474955
rs779731665
914 E>D No ClinGen
ExAC
TOPMed
rs749100890
CA2873509
914 E>G No ClinGen
ExAC
gnomAD
rs1404464045
CA356474960
914 E>K No ClinGen
gnomAD
CA356474925
rs1298179237
919 A>G No ClinGen
TOPMed
CA356474928
rs1460672477
919 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA356474924
rs1298179237
919 A>V No ClinGen
TOPMed
rs745834285
CA2873506
921 Y>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 924 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV001309388
CA2873504
rs201366227
925 S>T No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2873503
rs201744100
928 T>I No ClinGen
1000Genomes
ExAC
CA93481234
rs201744100
928 T>N No ClinGen
1000Genomes
ExAC
CA2873502
rs200130550
RCV001350161
929 F>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs758044799
CA2873501
929 F>Y No ClinGen
ExAC
gnomAD
RCV001307769
rs369017846
CA2873500
932 C>Y No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1174910166
CA356474831
933 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA93481218
rs924491196
933 M>V No ClinGen
Ensembl
rs137992274
CA2873499
RCV001338222
934 Y>C No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 934 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2873497
rs200205370
936 L>M No ClinGen
ExAC
gnomAD
CA356474806
rs1321122468
937 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1055148045
RCV001309061
CA93481206
937 S>R No ClinGen
ClinVar
TOPMed
dbSNP
TCGA novel 938 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1262223662
CA356474798
938 I>T No ClinGen
gnomAD
CA356474794
rs1224053675
939 F>L No ClinGen
gnomAD
CA356474785
rs1313825028
940 I>F No ClinGen
TOPMed
gnomAD
CA356474786
rs1313825028
940 I>V No ClinGen
TOPMed
gnomAD
rs1486056684
CA356474752
944 R>S No ClinGen
TOPMed
rs768058984
CA2873495
946 P>A No ClinGen
ExAC
gnomAD
CA11640624
rs768058984
946 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1254285360
CA356474731
947 E>D No ClinGen
TOPMed
CA2873494
rs761917636
948 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs761917636
CA356474729
948 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA2873493
rs774357237
948 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA356474715
rs1298941024
950 Y>C No ClinGen
gnomAD
CA93481170
rs562119691
953 K>E No ClinGen
Ensembl
rs756147612
CA2873492
955 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA93481168
rs756147612
955 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs989956146
COSM1235071
CA93481167
956 T>M haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
gnomAD
rs775387546
RCV001318689
957 E>D No ClinVar
dbSNP
rs748229758
CA93481154
958 E>K No ClinGen
Ensembl
CA356474653
rs1235047219
959 Q>P No ClinGen
Ensembl
rs1250855965
CA356474641
961 R>G No ClinGen
gnomAD
rs1180147610
CA356474635
961 R>S No ClinGen
TOPMed
gnomAD
rs1242316288
CA356474632
962 L>S No ClinGen
gnomAD
rs1204047056
CA356474627
963 A>P No ClinGen
gnomAD
rs149797128
RCV001237039
CA2873487
965 N>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs141318113
CA356474595
967 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM733704
rs746516223
CA2873484
969 E>K lung Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs535821659
CA2873483
971 N>D No ClinGen
ExAC
gnomAD
TCGA novel 971 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA93481099
rs372378305
971 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
RCV001348496
CA2873482
rs758000828
972 H>N No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA2873481
rs752322002
972 H>R No ClinGen
ExAC
TOPMed
CA356474566
rs758000828
972 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA356474556
rs1336547600
973 Q>R No ClinGen
TOPMed
gnomAD
CA2873480
rs780346073
974 D>N No ClinGen
ExAC
gnomAD
rs1290822324
CA356474545
975 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs201849173
CA2873478
976 M>T No ClinGen
1000Genomes
ExAC
gnomAD
rs200785534
RCV001229068
CA2873479
976 M>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA356474529
rs768003943
977 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA356474523
rs1355491882
978 L>F No ClinGen
Ensembl
rs762281496
CA2873476
978 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA2873475
rs558086324
979 S>F No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 981 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356474472
rs1184017057
986 L>S No ClinGen
TOPMed
gnomAD
TCGA novel 987 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs879252809
CA93481022
988 N>S No ClinGen
Ensembl
rs1178126424
CA356474435
989 E>A No ClinGen
TOPMed
CA356474429
rs1259344870
989 E>D No ClinGen
gnomAD
CA2873473
RCV001337568
rs763188344
989 E>Q No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs1713961106
RCV001231412
992 F>S No ClinVar
dbSNP
TCGA novel 992 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 993 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775834962
CA2873472
995 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1421402767
CA356474346
996 L>I No ClinGen
TOPMed
CA2873469
rs776625709
998 G>R No ClinGen
ExAC
gnomAD
TCGA novel 999 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA93481004
rs372520777
1000 S>N No ClinGen
Ensembl
rs113103104
CA93480991
1002 T>A No ClinGen
Ensembl
CA2873467
rs770843149
1003 L>S No ClinGen
ExAC
gnomAD
CA356474203
rs1342658773
1006 Y>C No ClinGen
gnomAD
CA356474200
rs1342658773
1006 Y>F No ClinGen
gnomAD
RCV001309441
rs376335542
CA2873465
1006 Y>H No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA356474191
rs1560291142
1007 V>I No ClinGen
Ensembl
rs752813660
RCV001308442
CA2873463
1008 A>V No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1299573183
CA356474126
1010 W>C No ClinGen
gnomAD
rs1013071529
CA93480955
1010 W>L No ClinGen
Ensembl
rs200434814
CA2873460
RCV001202222
1011 M>I No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs754689153
CA2873461
1011 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs199772355
CA93480935
1012 F>L No ClinGen
1000Genomes
rs781545499
CA2873459
1014 A>T No ClinGen
ExAC
gnomAD
rs76872619
CA93480914
1015 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201588033
CA2873458
1015 L>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1804110
CA93480909
1016 A>D No ClinGen
Ensembl
RCV001234940
rs765544362
CA2873453
1017 V>I No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001320352
CA2873454
rs765544362
1017 V>L No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA2873452
rs759851528
1019 L>S No ClinGen
ExAC
gnomAD
rs1577316408
CA356473941
1021 Y>S No ClinGen
Ensembl
CA356473918
rs1195981314
1022 P>L No ClinGen
gnomAD
rs1713955224
RCV001230182
1022 P>S No ClinVar
dbSNP
rs776502251
CA2873451
1023 L>V No ClinGen
ExAC
gnomAD
CA93480868
rs200971638
1024 D>G No ClinGen
1000Genomes
RCV001067414
rs535177320
CA2873450
1024 D>N No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 1024 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760611198
CA2873449
1025 L>F No ClinGen
ExAC
gnomAD
rs772999406
CA2873448
1026 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1028 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772085550
CA2873447
1028 S>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1028 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2873444
rs188925350
1030 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA356473789
rs1403583552
1031 F>L No ClinGen
gnomAD
TCGA novel 1032 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356473772
rs1344353731
1033 A>T No ClinGen
TOPMed
gnomAD
CA356473755
rs1323564710
1034 T>A No ClinGen
gnomAD
CA93480816
rs950238474
RCV001294370
1034 T>I No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs1267317428
CA356473710
COSM1694201
1036 L>* skin [Cosmic] No ClinGen
cosmic curated
TOPMed
rs372047016
CA2873443
1036 L>F No ClinGen
ESP
ExAC
gnomAD
CA356473678
rs1258417575
1038 F>L No ClinGen
Ensembl
rs1167183051
CA356473652
1039 S>N No ClinGen
gnomAD
rs1560291043
CA356473632
1040 A>V No ClinGen
Ensembl
CA2873441
rs145468268
RCV001223078
1042 F>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1169394079
CA356473599
1043 V>A No ClinGen
TOPMed
rs9002
VAR_033971
CA2873440
1043 V>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA93480758
rs202156282
1045 H>R No ClinGen
1000Genomes
gnomAD
CA2873438
rs759002626
1049 N>S No ClinGen
ExAC
gnomAD
rs752767172
CA2873437
1052 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1054 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1054 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2873436
rs765410811
1055 L>F No ClinGen
ExAC
gnomAD
CA356473512
rs200161840
1056 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200161840
CA93480697
1056 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs909558515
CA93480704
1056 A>P No ClinGen
TOPMed
CA2873435
rs200161840
RCV001244137
COSM1540131
1056 A>V lung [Cosmic] No ClinGen
cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1222222537
CA356473505
1057 W>* No ClinGen
gnomAD
rs1274992241
CA356473482
1060 T>I No ClinGen
TOPMed
gnomAD
CA2873433
rs766671772
1060 T>S No ClinGen
ExAC
gnomAD
CA356473480
rs1333665906
1061 C>R No ClinGen
gnomAD
rs761749221
CA2873430
1062 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs761749221
CA2873429
1062 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs773814543
CA2873428
1063 P>R No ClinGen
ExAC
gnomAD
CA356473462
CA2873427
rs768181664
1064 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA2873425
rs144467569
COSM1054535
1065 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2873426
rs748848943
1065 R>W No ClinGen
ExAC
gnomAD
TCGA novel 1066 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV001302754
CA2873422
rs778214023
1067 S>L No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
CA2873423
rs778214023
1067 S>W No ClinGen
ExAC
gnomAD
CA356473429
rs1458329968
1069 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA93480563
rs752989731
1070 V>L No ClinGen
Ensembl
CA356473421
rs1433768320
1071 Q>* No ClinGen
gnomAD
CA93480544
rs779087301
1073 N>S No ClinGen
ExAC
gnomAD
CA2873419
rs779087301
1073 N>T No ClinGen
ExAC
gnomAD
CA356473402
rs753989394
1074 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs753989394
CA2873417
1074 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA2873416
rs766503450
1075 Q>* No ClinGen
ExAC
gnomAD
RCV001071651
rs142747862
CA2873415
1076 P>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1413284630
CA356473383
1077 P>R No ClinGen
TOPMed
gnomAD
rs530216418
CA2873412
1077 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA2873409
rs764061080
1078 N>K No ClinGen
ExAC
gnomAD
CA356473368
rs1336114054
1080 N>D No ClinGen
gnomAD
CA356473366
rs1364816123
1080 N>S No ClinGen
TOPMed
rs117576731
RCV000927666
CA2873407
1082 T>M No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2873408
rs117576731
1082 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA356473340
rs138696398
1084 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000917663
CA2873405
rs138696398
1084 G>E No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1382402404
CA356473332
1085 E>D No ClinGen
gnomAD
RCV001234398
rs1035414702
CA93480438
1086 A>V No ClinGen
ClinVar
dbSNP
gnomAD
CA356473320
rs1472663450
1087 P>R No ClinGen
gnomAD
rs1002678197
CA93480437
1088 K>R No ClinGen
TOPMed
gnomAD
rs369248230
CA2873403
1091 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1355458789
CA356473277
1093 S>R No ClinGen
gnomAD
CA93480426
rs376102632
1093 S>T No ClinGen
ESP
TOPMed
CA356473272
rs141619991
1094 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV001351462
rs141619991
CA2873401
1094 A>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001322373
rs1713940449
1096 S>C No ClinVar
dbSNP
rs1379659692
CA356473251
1096 S>P No ClinGen
gnomAD
CA356473187
rs1285667518
1099 T>I No ClinGen
gnomAD
CA2873398
rs749313362
1102 S>G No ClinGen
ExAC
CA2873397
rs111298499
1102 S>R No ClinGen
ExAC
gnomAD
rs756220717
CA2873396
1104 S>L No ClinGen
ExAC
gnomAD
TCGA novel 1105 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1225355665
CA356473080
1105 S>N No ClinGen
TOPMed
CA93480384
rs557122010
1105 S>R No ClinGen
Ensembl
CA2873395
rs750684538
RCV001063736
1108 N>D No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 1108 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1362749762
CA356473000
1109 S>T No ClinGen
gnomAD
CA2873393
rs757017927
1110 S>F No ClinGen
ExAC
CA356472945
rs1183905881
1112 G>A No ClinGen
TOPMed
gnomAD
CA2873391
rs764007687
1112 G>C No ClinGen
ExAC
gnomAD
rs1183905881
CA356472944
1112 G>V No ClinGen
TOPMed
gnomAD
rs1474747175
CA356472903
RCV001345947
1115 L>S No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs1263098863
CA356472863
1117 N>I No ClinGen
gnomAD
TCGA novel 1118 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762963845
CA356472851
1118 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA2873389
rs764835658
1120 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA2873388
rs764835658
RCV001294953
1120 A>V No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA356472791
rs1220378614
1122 A>T No ClinGen
gnomAD
rs371121360
CA2873386
1123 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2873385
RCV001314732
rs371121360
1123 A>V No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2873384
rs762262067
1124 Q>E No ClinGen
ExAC
gnomAD
CA356472746
rs1212578761
1125 C>Y No ClinGen
gnomAD
CA2873383
RCV001248711
rs774910758
1126 H>R No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001201463
CA356472726
rs1401716242
1127 A>S No ClinGen
ClinVar
dbSNP
gnomAD
CA2873381
rs545763677
1128 N>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2873380
rs545763677
1128 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769898786
CA93480248
1129 S>C No ClinGen
ExAC
gnomAD
rs769898786
CA2873379
1129 S>F No ClinGen
ExAC
gnomAD
CA2873377
rs769898786
1129 S>Y No ClinGen
ExAC
gnomAD
rs755147070
CA2873376
1130 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs1440656843
CA356472656
RCV001205790
1131 P>L No ClinGen
ClinVar
dbSNP
gnomAD
CA93480205
rs879876606
1131 P>T No ClinGen
gnomAD
rs757536970
CA2873375
1134 S>A No ClinGen
ExAC
gnomAD
CA2873373
rs751299637
1134 S>C No ClinGen
ExAC
gnomAD
rs757536970
CA2873374
1134 S>P No ClinGen
ExAC
gnomAD
CA93480168
rs972347319
1135 T>I No ClinGen
TOPMed
gnomAD
CA93480177
rs972347319
1135 T>N No ClinGen
TOPMed
gnomAD
TCGA novel 1137 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA356472527
rs1488639060
1139 D>E No ClinGen
gnomAD
CA356472543
rs1190107172
1139 D>N No ClinGen
gnomAD
rs1248057817
CA356472522
1140 N>D No ClinGen
gnomAD
CA93480146
rs922253997
1141 S>C No ClinGen
TOPMed
rs1560290672
CA356472481
1142 L>Q No ClinGen
Ensembl
rs143592195
CA93480145
1143 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200450492
CA2873370
1143 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2873371
RCV001064717
rs143592195
1143 T>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ClinVar
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA2873369
rs765136152
1146 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs909429953
CA93480134
1147 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA356472438
rs1220401065
1147 M>V No ClinGen
gnomAD
CA356472419
rs1321264210
1149 N>S No ClinGen
gnomAD
rs753463580
CA356472412
1150 D>G No ClinGen
ExAC
gnomAD
CA2873368
rs138052583
1150 D>N No ClinGen
ESP
ExAC
gnomAD
CA2873367
rs753463580
1150 D>V No ClinGen
ExAC
gnomAD
TCGA novel 1150 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM3946277
CA2873364
rs774785929
1153 M>I lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1201359520
CA356472385
1154 H>L No ClinGen
TOPMed
rs1310868759
CA356472386
1154 H>Y No ClinGen
TOPMed
CA356472377
rs1272124406
1155 V>A No ClinGen
gnomAD
rs763279377
CA2873362
1155 V>M No ClinGen
ExAC
gnomAD
CA356472371
rs776038380
1156 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA2873361
rs776038380
COSM1319345
1156 A>V Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1035873766
CA93480110
1157 P>T No ClinGen
Ensembl
rs199616944
CA93480109
1160 V>I No ClinGen
1000Genomes
rs1426606242
CA356472341
1161 Q>R No ClinGen
gnomAD
RCV001239361
rs771076973
CA2873357
1163 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs1412596885
CA356472321
1164 T>I No ClinGen
TOPMed
CA93480091
rs3814416
1166 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2873355
VAR_033972
rs3814416
1166 V>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1713927434
RCV001227654
1166 V>M No ClinVar
dbSNP
CA93480079
rs201813100
1168 S>* No ClinGen
Ensembl
CA356472294
rs1255310057
1169 S>G No ClinGen
gnomAD
rs373531543
CA2873354
1169 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2873353
RCV001234197
rs758188846
1170 R>C No ClinGen
ClinVar
ExAC
dbSNP
COSM1208620
CA2873352
rs370767567
RCV001229867
1170 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1303415611
CA356472278
1171 H>Q No ClinGen
gnomAD
rs778903224
CA2873351
1172 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA356472231
rs754927845
1177 K>N No ClinGen
ExAC
gnomAD
rs765990340
CA2873348
1180 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA2873349
rs753338561
1180 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs893051811
CA93480012
1181 A>S No ClinGen
Ensembl
rs893051811
CA356472213
1181 A>T No ClinGen
Ensembl
rs370861136
CA2873347
RCV001325582
1182 S>N No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA93479993
rs1039596576
1183 R>* No ClinGen
gnomAD
CA356472198
rs1360396330
1183 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs766589305
CA93479987
1187 L>V No ClinGen
Ensembl
TCGA novel 1188 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1380526639
CA356472152
1191 A>T No ClinGen
gnomAD
CA93479974
rs201631240
1192 Y>D No ClinGen
Ensembl
rs1442522622
CA356472139
1193 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 1194 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1200968685
CA356472123
1195 P>S No ClinGen
gnomAD
RCV001069801
rs763375816
1196 T>A No ClinVar
dbSNP
rs61729361
CA2873342
1196 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61729361
CA2873341
RCV001212278
1196 T>M No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs61729361
CA2873340
1196 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2873343
rs763375816
1196 T>S No ClinGen
ExAC
gnomAD
CA356472114
rs1353305478
1197 S>N No ClinGen
TOPMed
gnomAD
RCV001206712
CA2873337
rs747139796
1198 V>M No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 1200 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2873336
rs773391144
1200 G>E No ClinGen
ExAC
gnomAD
rs772250586
CA356472084
1201 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1381955291
CA356472080
1202 V>A No ClinGen
TOPMed
gnomAD
rs1381955291
CA356472079
1202 V>G No ClinGen
TOPMed
gnomAD
CA356472082
rs141222776
COSM1540133
1202 V>L lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2873334
rs141222776
RCV001337537
1202 V>M No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1713920613
RCV001296419
1203 Q>* No ClinVar
dbSNP
rs146569496
CA356472063
1204 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA356472066
rs1418527266
1204 N>S No ClinGen
gnomAD
TCGA novel 1207 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2873332
rs754874591
1207 P>R No ClinGen
ExAC
gnomAD
rs111871117
CA93479871
1209 S>G No ClinGen
gnomAD
rs367946371
RCV001349300
CA2873329
1210 R>Q No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA2873330
rs779659276
RCV001322735
1210 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs756876606
CA2873326
1211 L>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1212 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1472494774
CA356472012
RCV001347997
1213 N>S No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA93479803
rs867956456
1214 N>K No ClinGen
TOPMed
gnomAD
CA93479820
rs144314535
1214 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2873325
rs144314535
1214 N>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM183098
rs1404660498
CA356472003
1215 E>K large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs765552184
CA2873324
1217 H>R No ClinGen
ExAC
gnomAD
CA2873323
rs759989405
1218 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1040664017
CA93479787
1221 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs140656046
RCV000948675
CA2873322
1221 R>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA356471930
rs1299434323
1226 A>S No ClinGen
gnomAD
rs761942285
CA2873317
1227 Y>C No ClinGen
ExAC
gnomAD
rs1195892800
CA356471925
1227 Y>H No ClinGen
TOPMed
rs768355147
CA2873315
1230 R>K No ClinGen
ExAC
gnomAD
RCV001294571
CA2873314
rs749141341
1231 Q>E No ClinGen
ClinVar
ExAC
dbSNP
rs780138287
CA2873313
1232 Y>C No ClinGen
ExAC
gnomAD
CA2873312
rs140031824
1233 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356471875
rs1478070733
1234 P>S No ClinGen
gnomAD
rs1195923256
CA356471862
1236 Q>R No ClinGen
gnomAD
rs745319168
CA2873311
1237 Q>K No ClinGen
ExAC
gnomAD
RCV001037524
rs151117015
CA2873310
1238 D>N No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 1240 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV001058376
rs756895556
COSM281460
CA2873309
1241 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs755303518
CA2873307
1243 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA2873308
rs765533879
1243 C>R No ClinGen
ExAC
gnomAD
rs755303518
CA2873306
1243 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs754265789
CA2873305
1244 S>G No ClinGen
ExAC
gnomAD
CA356471803
rs1169737414
1244 S>R No ClinGen
TOPMed
CA2873304
rs766858551
1247 P>L No ClinGen
ExAC
gnomAD
CA2873303
rs201312574
1248 K>E No ClinGen
1000Genomes
ExAC
gnomAD
CA356471718
rs1397857748
1256 P>L No ClinGen
gnomAD
CA356471717
rs1577315686
1257 V>I No ClinGen
Ensembl
CA356471710
rs967844609
1258 S>A No ClinGen
TOPMed
gnomAD
rs967844609
CA93479491
1258 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1307838636
CA356471698
1260 T>A No ClinGen
TOPMed
gnomAD
CA356471695
rs1577315674
1260 T>I No ClinGen
Ensembl
CA2873300
rs762044074
1261 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs774412141
CA2873299
1262 K>E No ClinGen
ExAC
gnomAD
rs1713908676
RCV001245207
1263 K>Q No ClinVar
dbSNP
CA2873298
rs769070654
1263 K>R No ClinGen
ExAC
gnomAD
CA93479461
rs144172018
1264 D>G No ClinGen
ESP
gnomAD
rs778863401 1264 D>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA2873295
rs564104204
1265 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2873296
rs762830701
1265 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA93479449
rs564104204
1265 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1404905871
CA356471654
1267 R>K No ClinGen
TOPMed
gnomAD
rs958945150
CA93479404
1270 A>G No ClinGen
TOPMed
CA2873292
rs147162304
1272 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147162304
CA356471624
1272 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146897125
RCV000917174
CA2873291
1276 N>H No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs746569747
CA2873290
1277 Q>* No ClinGen
ExAC
CA356471570
rs1274857391
1279 K>N No ClinGen
gnomAD
rs780401247
CA2873286
1280 S>F No ClinGen
ExAC
gnomAD
CA2873288
rs144568977
RCV001211623
1280 S>P No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs780401247
CA2873287
1280 S>Y No ClinGen
ExAC
gnomAD
CA356471559
rs768269484
CA93479341
1281 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA2873283
rs149299752
1282 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149299752
CA2873284
1282 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA93479319
rs897922444
1283 L>V No ClinGen
TOPMed
gnomAD
rs751722049
CA2873281
1284 N>K No ClinGen
ExAC
gnomAD
CA93479295
rs372373246
1285 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA356471531
rs1560290274
1286 A>V No ClinGen
Ensembl
rs369701146
CA2873279
1287 I>V No ClinGen
ESP
ExAC
gnomAD
CA2873277
RCV001296023
rs765147381
1289 N>S No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA356471506
rs1386213420
1290 G>E No ClinGen
TOPMed
rs1440717794
CA356471501
1291 P>S No ClinGen
gnomAD
rs776404075
CA2873275
1292 I>T No ClinGen
ExAC
gnomAD
CA2873276
rs759424403
1292 I>V No ClinGen
ExAC
gnomAD
TCGA novel 1294 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2873274
COSM3428431
rs770969743
1294 S>N large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
RCV001067150
rs1713901682
1295 N>K No ClinVar
dbSNP
rs772721601
CA2873272
1295 N>S No ClinGen
ExAC
gnomAD
rs772721601
CA2873273
1295 N>T No ClinGen
ExAC
gnomAD
CA356471471
rs1382420948
1296 G>R No ClinGen
TOPMed
CA356471466
rs1278788508
1296 G>V No ClinGen
gnomAD
CA356471463
rs1201674630
1297 Q>* No ClinGen
gnomAD
CA356471454
rs1351110091
1298 E>A No ClinGen
gnomAD
COSM4153458
CA93479216
rs936569551
1298 E>D kidney [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
TCGA novel 1301 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1302 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs147716223
RCV001324021
CA2873270
1303 G>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs928853508
COSM183097
CA93479170
1305 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs568318170
CA93479161
1306 S>C No ClinGen
TOPMed
rs568318170
CA356471408
1306 S>G No ClinGen
TOPMed
CA93479159
rs879455722
1306 S>N No ClinGen
Ensembl
CA356471401
rs1351207539
1307 T>A No ClinGen
TOPMed
CA356471396
rs1207100182
1308 G>S No ClinGen
TOPMed
rs144907660
CA2873266
1309 N>S No ClinGen
ESP
ExAC
gnomAD
rs543888546
CA2873265
RCV001325131
1311 R>K No ClinGen
ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
CA356471328
rs751531670
1317 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs576557418
COSM1429163
CA2873263
1318 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs758645151
CA2873262
1319 T>A No ClinGen
ExAC
gnomAD
TCGA novel 1322 V>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q8IWK6

12 regional properties for Q8IWK6

Type Name Position InterPro Accession
domain GPS motif 697 - 749 IPR000203
domain Cysteine-rich flanking region, C-terminal 187 - 236 IPR000483
repeat Leucine-rich repeat 85 - 141 IPR001611
domain GPCR, family 2, extracellular hormone receptor domain 323 - 418 IPR001879
repeat Leucine-rich repeat, typical subtype 79 - 103 IPR003591-1
repeat Leucine-rich repeat, typical subtype 104 - 127 IPR003591-2
repeat Leucine-rich repeat, typical subtype 128 - 151 IPR003591-3
repeat Leucine-rich repeat, typical subtype 152 - 175 IPR003591-4
domain Immunoglobulin subtype 249 - 342 IPR003599
domain Immunoglobulin-like domain 242 - 340 IPR007110
domain Immunoglobulin I-set 247 - 340 IPR013098
domain GPCR, family 2-like, transmembrane domain 756 - 1050 IPR017981

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
external side of plasma membrane The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name Definition
G protein-coupled receptor activity Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.

2 GO annotations of biological process

Name Definition
cell surface receptor signaling pathway The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
G protein-coupled receptor signaling pathway The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.

39 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q3MHH9 ECM2 Extracellular matrix protein 2 Bos taurus (Bovine) PR
P58874 OPTC Opticin Bos taurus (Bovine) PR
Q24K06 LRRC10 Leucine-rich repeat-containing protein 10 Bos taurus (Bovine) PR
A6H789 LRRC3B Leucine-rich repeat-containing protein 3B Bos taurus (Bovine) PR
Q9V780 Lap1 Protein lap1 Drosophila melanogaster (Fruit fly) PR
Q96NW7 LRRC7 Leucine-rich repeat-containing protein 7 Homo sapiens (Human) PR
Q8IWT6 LRRC8A Volume-regulated anion channel subunit LRRC8A Homo sapiens (Human) PR
Q9HCJ2 LRRC4C Leucine-rich repeat-containing protein 4C Homo sapiens (Human) PR
Q9UFC0 LRWD1 Leucine-rich repeat and WD repeat-containing protein 1 Homo sapiens (Human) PR
Q96L50 LRR1 Leucine-rich repeat protein 1 Homo sapiens (Human) PR
Q86UN2 RTN4RL1 Reticulon-4 receptor-like 1 Homo sapiens (Human) PR
Q7L1W4 LRRC8D Volume-regulated anion channel subunit LRRC8D Homo sapiens (Human) PR
Q96FE5 LINGO1 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 Homo sapiens (Human) PR
Q8TDW0 LRRC8C Volume-regulated anion channel subunit LRRC8C Homo sapiens (Human) PR
Q38SD2 LRRK1 Leucine-rich repeat serine/threonine-protein kinase 1 Homo sapiens (Human) EV
Q96PB8 LRRC3B Leucine-rich repeat-containing protein 3B Homo sapiens (Human) PR
A6H694 Lrrc63 Leucine-rich repeat-containing protein 63 Mus musculus (Mouse) PR
Q9D9Q0 Lrrc69 Leucine-rich repeat-containing protein 69 Mus musculus (Mouse) PR
Q8BGI7 Lrrc39 Leucine-rich repeat-containing protein 39 Mus musculus (Mouse) PR
P59383 Lrrn4 Leucine-rich repeat neuronal protein 4 Mus musculus (Mouse) PR
Q9D1T0 Lingo1 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 Mus musculus (Mouse) PR
Q8VCH9 Lrrc3b Leucine-rich repeat-containing protein 3B Mus musculus (Mouse) PR
Q8R502 Lrrc8c Volume-regulated anion channel subunit LRRC8C Mus musculus (Mouse) PR
Q80WG5 Lrrc8a Volume-regulated anion channel subunit LRRC8A Mus musculus (Mouse) PR
Q8K0S5 Rtn4rl1 Reticulon-4 receptor-like 1 Mus musculus (Mouse) PR
Q80TE7 Lrrc7 Leucine-rich repeat-containing protein 7 Mus musculus (Mouse) PR
Q5DU41 Lrrc8b Volume-regulated anion channel subunit LRRC8B Mus musculus (Mouse) PR
Q5RKR3 Islr2 Immunoglobulin superfamily containing leucine-rich repeat protein 2 Mus musculus (Mouse) PR
Q8C031 Lrrc4c Leucine-rich repeat-containing protein 4C Mus musculus (Mouse) PR
Q7TT36 Adgra3 Adhesion G protein-coupled receptor A3 Mus musculus (Mouse) PR
P70587 Lrrc7 Leucine-rich repeat-containing protein 7 Rattus norvegicus (Rat) PR
Q4V8G0 Lrrc63 Leucine-rich repeat-containing protein 63 Rattus norvegicus (Rat) PR
Q80WD0 Rtn4rl1 Reticulon-4 receptor-like 1 Rattus norvegicus (Rat) PR
Q9TZM3 lrk-1 Leucine-rich repeat serine/threonine-protein kinase 1 Caenorhabditis elegans SS
Q9SHI4 RLP3 Receptor-like protein 3 Arabidopsis thaliana (Mouse-ear cress) SS
Q5G5E0 PIRL5 Plant intracellular Ras-group-related LRR protein 5 Arabidopsis thaliana (Mouse-ear cress) PR
B0JZ65 lrwd1 Leucine-rich repeat and WD repeat-containing protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q68F79 lrrc8e Volume-regulated anion channel subunit LRRC8E Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
B0R160 lrwd1 Leucine-rich repeat and WD repeat-containing protein 1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MEPPGRRRGR AQPPLLLPLS LLALLALLGG GGGGGAAALP AGCKHDGRPR GAGRAAGAAE
70 80 90 100 110 120
GKVVCSSLEL AQVLPPDTLP NRTVTLILSN NKISELKNGS FSGLSLLERL DLRNNLISSI
130 140 150 160 170 180
DPGAFWGLSS LKRLDLTNNR IGCLNADIFR GLTNLVRLNL SGNLFSSLSQ GTFDYLASLR
190 200 210 220 230 240
SLEFQTEYLL CDCNILWMHR WVKEKNITVR DTRCVYPKSL QAQPVTGVKQ ELLTCDPPLE
250 260 270 280 290 300
LPSFYMTPSH RQVVFEGDSL PFQCMASYID QDMQVLWYQD GRIVETDESQ GIFVEKNMIH
310 320 330 340 350 360
NCSLIASALT ISNIQAGSTG NWGCHVQTKR GNNTRTVDIV VLESSAQYCP PERVVNNKGD
370 380 390 400 410 420
FRWPRTLAGI TAYLQCTRNT HGSGIYPGNP QDERKAWRRC DRGGFWADDD YSRCQYANDV
430 440 450 460 470 480
TRVLYMFNQM PLNLTNAVAT ARQLLAYTVE AANFSDKMDV IFVAEMIEKF GRFTKEEKSK
490 500 510 520 530 540
ELGDVMVDIA SNIMLADERV LWLAQREAKA CSRIVQCLQR IATYRLAGGA HVYSTYSPNI
550 560 570 580 590 600
ALEAYVIKST GFTGMTCTVF QKVAASDRTG LSDYGRRDPE GNLDKQLSFK CNVSNTFSSL
610 620 630 640 650 660
ALKNTIVEAS IQLPPSLFSP KQKRELRPTD DSLYKLQLIA FRNGKLFPAT GNSTNLADDG
670 680 690 700 710 720
KRRTVVTPVI LTKIDGVNVD THHIPVNVTL RRIAHGADAV AARWDFDLLN GQGGWKSDGC
730 740 750 760 770 780
HILYSDENIT TIQCYSLSNY AVLMDLTGSE LYTQAASLLH PVVYTTAIIL LLCLLAVIVS
790 800 810 820 830 840
YIYHHSLIRI SLKSWHMLVN LCFHIFLTCV VFVGGITQTR NASICQAVGI ILHYSTLATV
850 860 870 880 890 900
LWVGVTARNI YKQVTKKAKR CQDPDEPPPP PRPMLRFYLI GGGIPIIVCG ITAAANIKNY
910 920 930 940 950 960
GSRPNAPYCW MAWEPSLGAF YGPASFITFV NCMYFLSIFI QLKRHPERKY ELKEPTEEQQ
970 980 990 1000 1010 1020
RLAANENGEI NHQDSMSLSL ISTSALENEH TFHSQLLGAS LTLLLYVALW MFGALAVSLY
1030 1040 1050 1060 1070 1080
YPLDLVFSFV FGATSLSFSA FFVVHHCVNR EDVRLAWIMT CCPGRSSYSV QVNVQPPNSN
1090 1100 1110 1120 1130 1140
GTNGEAPKCP NSSAESSCTN KSASSFKNSS QGCKLTNLQA AAAQCHANSL PLNSTPQLDN
1150 1160 1170 1180 1190 1200
SLTEHSMDND IKMHVAPLEV QFRTNVHSSR HHKNRSKGHR ASRLTVLREY AYDVPTSVEG
1210 1220 1230 1240 1250 1260
SVQNGLPKSR LGNNEGHSRS RRAYLAYRER QYNPPQQDSS DACSTLPKSS RNFEKPVSTT
1270 1280 1290 1300 1310 1320
SKKDALRKPA VVELENQQKS YGLNLAIQNG PIKSNGQEGP LLGTDSTGNV RTGLWKHETT
V