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 Q15021

Entry ID Method Resolution Chain Position Source
AF-Q15021-F1 Predicted AlphaFoldDB

1186 variants for Q15021

Variant ID(s) Position Change Description Diseaes Association Provenance
VAR_080953 8 F>S MCPH21; found in two patients from a consanguineous family; unknown pathological significance [UniProt] Yes UniProt
CA6408314
rs576859525
RCV001331914
389 T>I Microcephaly 21, primary, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs145893978
CA6408424
RCV001331915
509 N>S Microcephaly 21, primary, autosomal recessive [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA6408816
RCV002533882
rs762710261
RCV000761815
883 E>K Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV001331975
rs1946356525
1277 E>V Microcephaly 21, primary, autosomal recessive [ClinVar] Yes ClinVar
dbSNP
rs149571298
CA6407905
2 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149571298
CA383566583
2 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144221350
CA6407906
3 P>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383566591
rs144221350
3 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6407907
rs368305298
5 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs886677060
CA232373222
6 Y>D No ClinGen
Ensembl
CA383566667
rs1350540486
8 F>C No ClinGen
gnomAD
CA6407908
rs745475144
9 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA383566730
rs1296559231
13 S>F No ClinGen
gnomAD
rs148279081
CA6407909
15 E>K No ClinGen
ESP
ExAC
TOPMed
rs777110079
CA6407910
15 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA383566764
rs1177496044
16 E>K No ClinGen
TOPMed
CA383566871
rs371605695
22 G>E No ClinGen
ESP
gnomAD
CA232373250
rs371605695
22 G>V No ClinGen
ESP
gnomAD
CA383566889
rs1592162468
23 V>G No ClinGen
Ensembl
CA6407914
rs61753197
23 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6407915
rs766383936
24 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1284721438
CA383566928
25 Q>H No ClinGen
gnomAD
rs781325895
CA6407916
26 Y>C No ClinGen
ExAC
gnomAD
CA383566932
rs1488373909
26 Y>H No ClinGen
gnomAD
CA383566957
rs1473056661
28 V>L No ClinGen
TOPMed
CA232373266
rs887007094
30 E>G No ClinGen
TOPMed
TCGA novel 31 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759709281
CA6407917
31 V>L No ClinGen
ExAC
gnomAD
CA6407919
rs752405691
34 I>V No ClinGen
ExAC
gnomAD
CA383567090
rs756144447
35 K>I No ClinGen
ExAC
TOPMed
gnomAD
rs756144447
CA6407920
35 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs753741130
CA6407922
36 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6407921
rs368159489
36 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383567176
rs1420522627
40 Q>P No ClinGen
TOPMed
gnomAD
CA383567196
rs1357181080
41 L>F No ClinGen
TOPMed
gnomAD
rs139616215
CA6407951
43 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139616215
CA6407952
43 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6407953
rs530151221
44 F>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383562254
rs1245055627
47 A>D No ClinGen
TOPMed
gnomAD
CA383562259
rs1245055627
47 A>V No ClinGen
TOPMed
gnomAD
rs550146120
CA6407955
49 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs550146120
CA6407956
49 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6407957
rs775605375
49 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA383562296
rs1565541020
51 Q>E No ClinGen
Ensembl
rs760900534
CA6407958
51 Q>R No ClinGen
ExAC
CA383562327
rs1276479494
53 P>S No ClinGen
TOPMed
rs1341604062
CA383562340
55 A>T No ClinGen
gnomAD
CA383562363
rs1565541034
56 M>I No ClinGen
Ensembl
rs570257017
CA6407960
56 M>V No ClinGen
1000Genomes
ExAC
gnomAD
CA6407962
rs776454415
63 I>F No ClinGen
ExAC
gnomAD
rs147643090
CA6407963
63 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383562479
rs776454415
63 I>V No ClinGen
ExAC
gnomAD
CA6407965
rs750325794
64 Y>C No ClinGen
ExAC
gnomAD
CA232384843
rs750325794
64 Y>F No ClinGen
ExAC
gnomAD
rs750602915
CA6407959
64 Y>G No ClinGen
ExAC
CA232384844
rs760738086
67 L>V No ClinGen
Ensembl
rs552513216
CA6407968
67 L>W No ClinGen
1000Genomes
ExAC
gnomAD
rs1038935656
CA232384873
69 H>L No ClinGen
Ensembl
CA6407984
rs766616615
71 R>* No ClinGen
ExAC
gnomAD
rs200920120
CA6407985
COSM1239554
71 R>Q Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs370628893
CA6407987
73 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6407986
rs765860532
73 I>T No ClinGen
ExAC
gnomAD
rs1565541157
CA383562724
74 D>G No ClinGen
Ensembl
CA232384875
rs868593641
75 P>A No ClinGen
TOPMed
CA232384874
rs868593641
75 P>T No ClinGen
TOPMed
rs1185299652
CA383562838
82 L>V No ClinGen
TOPMed
gnomAD
rs714774
CA383562843
83 Q>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs714774
VAR_024421
CA6407989
83 Q>E No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs714774
CA383562842
83 Q>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383562896
rs1164863276
86 I>M No ClinGen
gnomAD
CA232384905
rs79122711
90 S>P No ClinGen
Ensembl
rs761217214
CA6408088
91 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs12424437
CA6408089
91 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA383563394
rs1232384445
93 S>F No ClinGen
gnomAD
CA383563406
rs1487479800
94 Q>L No ClinGen
TOPMed
rs762152072
CA6408091
98 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1422757934
CA383563473
99 I>V No ClinGen
TOPMed
gnomAD
rs766111488
CA6408095
101 D>G No ClinGen
ExAC
gnomAD
CA6408093
rs750588842
101 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA6408094
rs750588842
101 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs149674449
CA232384906
102 D>A No ClinGen
ESP
TOPMed
gnomAD
CA383563523
rs149674449
102 D>G No ClinGen
ESP
TOPMed
gnomAD
CA383563541
rs1490709888
103 T>K No ClinGen
TOPMed
gnomAD
CA232384908
rs780825688
112 A>S No ClinGen
ExAC
gnomAD
CA6408098
COSM942588
rs780825688
112 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1344007333
CA383563645
115 N>Y No ClinGen
gnomAD
CA232384909
rs963200806
119 M>K No ClinGen
TOPMed
CA6408099
rs747602621
120 N>D No ClinGen
ExAC
gnomAD
rs1425753082
CA383563709
124 L>V No ClinGen
TOPMed
CA6408101
rs777295465
125 I>T No ClinGen
ExAC
gnomAD
rs1367844781
CA383563719
126 R>C No ClinGen
TOPMed
rs748909515
CA6408102
COSM1216785
126 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA383563723
rs748909515
126 R>L No ClinGen
ExAC
gnomAD
CA383563725
rs1166992985
127 L>V No ClinGen
TOPMed
CA6408103
rs772587843
130 S>F No ClinGen
ExAC
gnomAD
CA383563753
rs1206859786
131 F>S No ClinGen
gnomAD
rs574851318
CA6408104
132 E>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs886121001
CA383563761
132 E>D No ClinGen
gnomAD
TCGA novel 133 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761677659
CA6408105
133 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs761677659
CA383563766
133 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA383563765
rs1373814489
133 T>S No ClinGen
TOPMed
rs1200050622
CA383563771
134 M>T No ClinGen
TOPMed
rs372285001
CA232384912
134 M>V No ClinGen
Ensembl
rs1431180887
CA383563781
135 A>V No ClinGen
gnomAD
rs1565541527
CA383563810
137 Q>H No ClinGen
Ensembl
CA383563812
rs769029337
138 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs769029337
CA6408106
138 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1167331822
CA383563865
140 L>R No ClinGen
gnomAD
CA383563930
rs1365924439
143 L>V No ClinGen
gnomAD
CA383563958
rs1364528190
144 D>N No ClinGen
gnomAD
CA6408109
rs761803417
145 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA383563991
rs761803417
145 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs761803417
CA383563989
145 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA6408110
rs769874103
146 G>A No ClinGen
ExAC
gnomAD
rs773442258
CA6408111
147 G>R No ClinGen
ExAC
gnomAD
rs374658418
CA6408112
148 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383564984
rs1241950713
149 G>D No ClinGen
gnomAD
CA383565002
rs1264359465
150 K>E No ClinGen
gnomAD
CA6408134
rs546615712
152 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6408135
rs566781375
153 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383565072
rs1431522943
153 R>W No ClinGen
TOPMed
rs149220411
CA232384971
155 K>N No ClinGen
ESP
TOPMed
gnomAD
CA232384973
rs995954491
156 A>V No ClinGen
Ensembl
CA232384975
rs753271642
157 A>D No ClinGen
TOPMed
CA383565117
rs753271642
157 A>V No ClinGen
TOPMed
rs1384416154
CA383565140
158 H>L No ClinGen
gnomAD
rs763738810
CA6408137
159 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs753383625
CA6408138
160 F>Y No ClinGen
ExAC
gnomAD
CA6408139
rs756767693
161 D>E No ClinGen
ExAC
gnomAD
rs1453406635
CA383565174
161 D>N No ClinGen
gnomAD
rs1334140744
CA383565234
163 E>K No ClinGen
gnomAD
rs778711579
CA6408140
164 E>V No ClinGen
ExAC
gnomAD
rs750056098
CA6408141
165 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA383565365
rs1418298003
167 Q>H No ClinGen
TOPMed
CA6408142
rs535712146
169 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA383565430
rs1262373982
171 Q>H No ClinGen
TOPMed
gnomAD
rs781594197
CA6408143
171 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs1461734101
CA383565512
174 T>I No ClinGen
TOPMed
gnomAD
rs748640904
CA6408144
175 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs373617147
CA6408145
177 L>F No ClinGen
ESP
ExAC
gnomAD
rs777889802
CA6408146
178 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA232384989
rs892987814
180 D>N No ClinGen
TOPMed
gnomAD
rs774592106
CA6408149
182 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6408150
rs746054013
182 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs771813237
CA6408151
183 H>R No ClinGen
ExAC
gnomAD
rs1304604179
CA383565832
186 N>S No ClinGen
gnomAD
CA383565845
rs1394499311
187 H>Y No ClinGen
gnomAD
CA383565872
rs1273077875
188 S>T No ClinGen
TOPMed
rs1308035813
CA383565886
189 I>V No ClinGen
TOPMed
gnomAD
CA6408155
rs776642083
190 I>L No ClinGen
ExAC
gnomAD
rs1299857568
CA383565923
190 I>T No ClinGen
gnomAD
rs200260523
CA232385001
192 E>D No ClinGen
Ensembl
CA232385003
rs146876646
193 E>K No ClinGen
ESP
TOPMed
gnomAD
rs201246236
CA232385006
195 V>A No ClinGen
Ensembl
CA6408156
rs761438809
195 V>F No ClinGen
ExAC
gnomAD
rs1221357870
CA383567377
197 L>F No ClinGen
gnomAD
CA383567358
rs1365604326
197 L>M No ClinGen
TOPMed
rs200251936
CA6408173
201 C>W No ClinGen
ExAC
gnomAD
CA6408175
rs764879490
202 C>* No ClinGen
ExAC
gnomAD
CA6408174
rs764879490
202 C>W No ClinGen
ExAC
gnomAD
rs201733141
CA6408176
204 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs374598691
CA6408177
204 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs374598691
CA383567504
204 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA6408180
rs756503239
210 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM3955060
rs756503239
CA383567618
210 T>S lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs372201069
CA383567684
213 H>D No ClinGen
TOPMed
TCGA novel 213 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372201069
CA232385710
213 H>Y No ClinGen
TOPMed
rs540954737
CA232385711
214 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs540954737
CA6408181
214 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs202035339
CA6408182
217 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs202035339
CA383567781
217 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs757733418
CA6408183
217 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201537317
CA6408184
218 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6408185
rs192594761
219 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383567841
rs780351586
220 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA383567846
rs201003099
220 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6408188
rs201003099
220 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6408187
rs780351586
220 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA6408189
rs768621167
221 E>K No ClinGen
ExAC
gnomAD
rs969476476
CA232385713
227 L>F No ClinGen
Ensembl
rs748161516
CA6408191
228 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs140685494
CA232385714
228 G>R No ClinGen
ESP
rs1480503391
CA383568015
229 V>L No ClinGen
TOPMed
CA6408193
rs772966919
230 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1310626272
CA383568033
230 A>V No ClinGen
TOPMed
CA6408195
rs770307249
231 L>V No ClinGen
ExAC
gnomAD
rs759171639
CA383568074
232 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA6408196
rs774076450
232 T>P No ClinGen
ExAC
gnomAD
rs759171639
CA6408197
232 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs774076450
CA383568070
232 T>S No ClinGen
ExAC
gnomAD
rs764486667
CA6408198
233 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6408199
rs754200286
233 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1299602043
CA383568135
237 M>I No ClinGen
TOPMed
rs201164765
CA6408201
237 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs750852571
CA6408202
237 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs201164765
CA383568128
237 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383568153
rs1454247720
239 S>G No ClinGen
gnomAD
rs956412691
CA232385721
244 I>T No ClinGen
TOPMed
gnomAD
rs1403727114
CA383568271
245 I>F No ClinGen
gnomAD
CA383568276
rs1482429557
245 I>T No ClinGen
TOPMed
CA383568312
rs1211770225
247 M>I No ClinGen
TOPMed
CA383568305
rs1279840454
247 M>L No ClinGen
TOPMed
CA383568324
rs1565542735
248 L>P No ClinGen
Ensembl
CA383568382
rs1592171191
253 H>P No ClinGen
Ensembl
CA6408217
rs762193347
254 L>P No ClinGen
ExAC
gnomAD
CA383568396
rs1439529085
255 A>V No ClinGen
gnomAD
CA383568399
rs1278640183
256 P>S No ClinGen
gnomAD
rs989028406
CA232385725
259 V>A No ClinGen
TOPMed
gnomAD
rs1336235743
CA383568425
260 A>V No ClinGen
TOPMed
CA6408222
rs200088499
262 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs970529615
CA232385727
263 S>R No ClinGen
TOPMed
CA383568445
rs1203651851
264 L>V No ClinGen
TOPMed
gnomAD
TCGA novel 266 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1436134351
CA383568468
267 T>I No ClinGen
TOPMed
CA6408224
rs767859123
268 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA6408226
rs755960209
269 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA6408228
rs749292483
270 G>E No ClinGen
ExAC
gnomAD
CA6408229
rs201656263
271 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1257145371
CA383568520
274 I>T No ClinGen
TOPMed
CA232385730
rs926307259
275 V>A No ClinGen
TOPMed
CA6408232
rs556672612
276 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs756547882
CA6408230
277 E>* No ClinGen
ExAC
TOPMed
TCGA novel 277 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771528727
CA6408233
277 E>K No ClinGen
ExAC
gnomAD
rs1277758609
CA383568547
278 I>T No ClinGen
Ensembl
rs1486737685
CA383568551
279 V>I No ClinGen
TOPMed
rs1324618252
CA383568590
282 I>M No ClinGen
gnomAD
rs140976120
CA6408251
285 K>N No ClinGen
ESP
ExAC
gnomAD
CA6408250
rs778850762
285 K>Q No ClinGen
ExAC
gnomAD
rs757948141
CA6408252
286 C>R No ClinGen
ExAC
gnomAD
rs1230855012
CA383568632
289 E>K No ClinGen
gnomAD
CA6408254
rs746741464
292 R>* No ClinGen
ExAC
gnomAD
CA6408255
rs150197479
292 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA383568689
rs1477424711
293 D>G No ClinGen
gnomAD
rs1191451804
CA383568721
COSM298475
295 S>* large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1445197798
CA383568782
299 G>D No ClinGen
gnomAD
CA383568807
rs1192467161
301 A>S No ClinGen
TOPMed
gnomAD
rs1192467161
CA383568804
301 A>T No ClinGen
TOPMed
gnomAD
CA6408258
rs764547668
302 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA6408259
rs775022978
305 T>I No ClinGen
ExAC
gnomAD
CA383568898
rs760098665
307 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1592171338
CA383568909
308 A>T No ClinGen
Ensembl
TCGA novel 309 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6408261
rs767746417
310 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs775710530
CA6408262
310 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA6408263
rs761020034
311 V>I No ClinGen
ExAC
gnomAD
rs754028921
CA383568973
312 P>A No ClinGen
ExAC
gnomAD
rs754028921
CA6408265
312 P>S No ClinGen
ExAC
gnomAD
CA6408266
rs761533440
313 A>S No ClinGen
ExAC
gnomAD
CA383569049
rs1417711545
317 S>C No ClinGen
TOPMed
CA6408268
rs750396738
317 S>P No ClinGen
ExAC
gnomAD
TCGA novel 318 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383569074
rs1167571753
319 M>V No ClinGen
TOPMed
CA6408269
rs758323988
320 C>Y No ClinGen
ExAC
gnomAD
rs779596854
CA6408270
321 I>V No ClinGen
ExAC
CA6408271
rs751045122
325 H>D No ClinGen
ExAC
gnomAD
CA6408272
rs754442022
329 E>K No ClinGen
ExAC
gnomAD
CA383570342
rs1347764272
330 N>K No ClinGen
TOPMed
gnomAD
CA6408286
rs750204852
330 N>S No ClinGen
ExAC
gnomAD
rs1201695635
CA383570321
330 N>Y No ClinGen
gnomAD
CA383570386
rs1170651681
332 M>V No ClinGen
TOPMed
rs762678605
CA6408287
334 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6408288
rs771302335
334 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 334 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6408290
rs143795587
337 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6408289
RCV000923232
rs143795587
337 V>M No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA232386321
rs537119663
341 M>V No ClinGen
1000Genomes
TOPMed
rs781501861
CA232386322
342 A>E No ClinGen
TOPMed
gnomAD
CA383570619
rs781501861
342 A>V No ClinGen
TOPMed
gnomAD
rs147023142
CA6408292
344 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1466574928
CA383570640
344 M>V No ClinGen
gnomAD
CA6408294
rs779481219
346 L>P No ClinGen
ExAC
gnomAD
CA6408295
rs779481219
346 L>R No ClinGen
ExAC
gnomAD
CA6408297
rs772501599
348 V>A No ClinGen
ExAC
gnomAD
CA383570680
rs772501599
348 V>G No ClinGen
ExAC
gnomAD
CA232386330
rs748279493
350 S>R No ClinGen
Ensembl
rs370387241
CA232386335
352 D>G No ClinGen
TOPMed
rs994613441
CA383570705
352 D>H No ClinGen
TOPMed
gnomAD
rs994613441
CA232386333
352 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA232386341
rs1027786615
354 L>V No ClinGen
Ensembl
rs138198563
CA6408299
358 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768655520
CA6408300
359 R>* No ClinGen
ExAC
gnomAD
CA6408301
rs776764263
359 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA6408302
rs762076491
361 T>I No ClinGen
ExAC
gnomAD
CA232386353
rs1016312186
362 R>T No ClinGen
TOPMed
rs886280771
CA232386355
366 L>F No ClinGen
Ensembl
CA6408305
rs773356519
367 D>V No ClinGen
ExAC
rs770015862
CA6408303
367 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1190344409
CA383570890
369 L>S No ClinGen
TOPMed
gnomAD
CA383570886
rs1478230124
369 L>V No ClinGen
TOPMed
gnomAD
CA383570902
rs1413793943
370 Q>* No ClinGen
TOPMed
CA383570983
rs1267228317
373 G>V No ClinGen
gnomAD
CA383570990
rs1434263101
374 H>D No ClinGen
gnomAD
CA383571003
rs1425633175
374 H>R No ClinGen
TOPMed
CA232386365
rs756476624
375 D>H No ClinGen
gnomAD
TCGA novel 376 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383571069
rs1371471081
377 N>S No ClinGen
gnomAD
rs778053909
CA6408307
378 S>A No ClinGen
ExAC
TOPMed
gnomAD
rs767003306
CA6408310
COSM1639207
381 R>Q stomach [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6408309
rs759487830
381 R>W No ClinGen
ExAC
gnomAD
rs1410769857
CA383571846
382 S>R No ClinGen
TOPMed
CA6408312
rs1555139353
383 R>C No ClinGen
Ensembl
CA383571850
rs1565543541
383 R>H No ClinGen
Ensembl
rs1368142678
CA383571899
386 Q>H No ClinGen
gnomAD
CA383571937
rs576859525
389 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383571938
rs576859525
389 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1325388960
COSM3356344
CA383572014
390 R>* haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs369341180
CA6408316
390 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6408317
COSM942591
rs369341180
390 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 391 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383572091
rs1356869496
393 Q>R No ClinGen
gnomAD
CA6408318
rs780431663
394 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs1181563069
CA383572284
396 A>P No ClinGen
gnomAD
rs756233720
CA6408341
396 A>V No ClinGen
ExAC
gnomAD
TCGA novel 399 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs143666333
CA383572344
399 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6408343
rs749581234
399 L>P No ClinGen
ExAC
gnomAD
rs143666333
CA383572341
399 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383572360
rs1457721024
400 T>A No ClinGen
gnomAD
rs968525819
CA232387749
400 T>I No ClinGen
TOPMed
gnomAD
CA383572366
rs968525819
400 T>K No ClinGen
TOPMed
gnomAD
CA383572370
rs968525819
400 T>R No ClinGen
TOPMed
gnomAD
CA6408345
rs771172038
401 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6408344
rs771172038
401 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs745684361
CA6408346
401 R>H No ClinGen
ExAC
gnomAD
rs745684361
CA383572385
401 R>P No ClinGen
ExAC
gnomAD
rs775593732
CA6408348
402 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA6408349
rs760671057
405 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1329055901
CA383572468
406 V>M No ClinGen
gnomAD
rs549180267
CA6408350
407 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA6408351
CA232387762
rs77013243
408 L>F No ClinGen
ExAC
gnomAD
CA383572508
rs1209521325
409 A>G No ClinGen
gnomAD
CA6408352
rs761167790
409 A>T No ClinGen
ExAC
gnomAD
CA6408353
rs201272617
412 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs924298728
CA232387767
412 R>H No ClinGen
TOPMed
gnomAD
CA383572576
rs924298728
412 R>L No ClinGen
TOPMed
gnomAD
rs759967466
CA6408355
414 A>P No ClinGen
ExAC
gnomAD
CA383572631
rs1161362028
415 D>E No ClinGen
gnomAD
CA6408356
rs375941071
416 K>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383572648
rs1413344653
416 K>T No ClinGen
gnomAD
CA232387772
rs756609653
418 V>A No ClinGen
ExAC
gnomAD
CA6408358
rs756609653
418 V>G No ClinGen
ExAC
gnomAD
CA383572737
rs1592172460
421 C>* No ClinGen
Ensembl
CA6408359
rs538027698
421 C>R No ClinGen
1000Genomes
ExAC
gnomAD
CA383572734
rs1350326693
421 C>Y No ClinGen
TOPMed
gnomAD
CA383572743
rs1592172461
422 K>T No ClinGen
Ensembl
rs1592172465
CA383572777
424 A>P No ClinGen
Ensembl
TCGA novel 424 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1592172468
CA383572803
425 I>T No ClinGen
Ensembl
CA383572910
rs1343497371
430 S>I No ClinGen
gnomAD
CA6408362
rs200578810
435 N>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs746032928
CA6408363
435 N>S No ClinGen
ExAC
gnomAD
CA6408364
rs771954995
436 P>S No ClinGen
ExAC
gnomAD
CA6408365
rs779988202
438 S>F No ClinGen
ExAC
gnomAD
CA383573065
rs1431697126
439 C>R No ClinGen
TOPMed
CA383573083
rs1406424119
439 C>Y No ClinGen
gnomAD
CA6408375
rs760972801
441 L>F No ClinGen
ExAC
gnomAD
CA6408377
rs373603488
442 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs35272924
CA232387813
442 S>T No ClinGen
Ensembl
rs778841033
CA6408379
446 L>F No ClinGen
ExAC
gnomAD
rs773211754
CA6408381
448 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs141181063
CA6408382
449 P>L No ClinGen
ESP
ExAC
TOPMed
rs1182322584
CA383573299
451 Q>R No ClinGen
TOPMed
CA6408385
rs768529470
452 K>N No ClinGen
ExAC
gnomAD
CA6408386
rs781299055
454 T>S No ClinGen
ExAC
gnomAD
TCGA novel 455 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1216788
CA383573375
rs1265969872
456 K>Q large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1592172580
CA383573420
458 Q>* No ClinGen
Ensembl
CA383573424
rs1389070012
458 Q>P No ClinGen
TOPMed
gnomAD
CA383573453
rs1227652166
459 E>D No ClinGen
gnomAD
rs748013479
CA6408387
460 M>I No ClinGen
ExAC
gnomAD
rs1432943755
CA383573533
464 R>K No ClinGen
gnomAD
COSM1639208
CA6408391
rs749028321
465 R>* stomach [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA383573553
rs770586366
465 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA6408392
rs770586366
465 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1282208474
CA383573558
COSM942592
466 T>A Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1309035025
CA383573563
466 T>I No ClinGen
gnomAD
TCGA novel 467 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1355453495
CA383573584
467 A>V No ClinGen
gnomAD
rs374668663
CA6408393
469 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 471 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1465122570
CA383573689
471 A>V No ClinGen
TOPMed
rs940447004
CA232387923
473 L>P No ClinGen
gnomAD
CA383573768
rs1592172677
477 E>K No ClinGen
Ensembl
CA6408412
rs769053029
478 E>D No ClinGen
ExAC
gnomAD
TCGA novel 478 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6408413
rs776858241
479 W>S No ClinGen
ExAC
gnomAD
CA383573825
rs1592172683
480 E>K No ClinGen
Ensembl
rs762176392
CA6408414
483 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6408415
rs765663001
485 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs773726183
CA6408416
486 L>W No ClinGen
ExAC
gnomAD
CA383573964
rs1401704535
487 K>T No ClinGen
gnomAD
CA6408417
rs535745888
488 S>C No ClinGen
1000Genomes
ExAC
gnomAD
CA383573998
rs1335900412
489 T>I No ClinGen
gnomAD
rs199590135
CA6408419
491 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6408420
rs755245448
495 Q>* No ClinGen
ExAC
gnomAD
rs150719071
CA6408421
497 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1565543899
CA383574178
498 Q>K No ClinGen
Ensembl
rs1327335415
CA383574303
501 E>D No ClinGen
TOPMed
CA383574266
rs1230379033
501 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs752448560
CA6408423
508 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs1201891353
CA383574479
509 N>K No ClinGen
TOPMed
gnomAD
rs375796466
CA232387961
516 V>M No ClinGen
TOPMed
CA6408425
rs777603676
517 K>N No ClinGen
ExAC
gnomAD
rs753729110
CA6408426
519 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs753729110
CA383574693
519 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1374542456
CA383574698
COSM1216786
519 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
rs753729110
CA383574685
519 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs756811614
CA383574707
520 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA6408428
rs778368343
520 I>T No ClinGen
ExAC
gnomAD
CA6408427
rs756811614
520 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1377178791
CA383574745
521 Y>C No ClinGen
TOPMed
gnomAD
rs1377178791
CA383574751
521 Y>F No ClinGen
TOPMed
gnomAD
rs745591282
CA6408429
522 Q>* No ClinGen
ExAC
gnomAD
CA383574809
rs1428787448
524 L>P No ClinGen
TOPMed
gnomAD
CA6408430
rs771633449
525 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs748489930
CA6408432
527 A>T No ClinGen
ExAC
gnomAD
CA383574902
rs1299989514
528 S>G No ClinGen
gnomAD
rs1391369688
CA383576502
530 K>N No ClinGen
gnomAD
CA383576537
rs1592174286
532 A>P No ClinGen
Ensembl
rs1294796514
CA383576571
533 I>T No ClinGen
gnomAD
CA232389238
rs368311206
533 I>V No ClinGen
ESP
TOPMed
gnomAD
CA383576636
rs1592174293
536 T>P No ClinGen
Ensembl
CA6408450
rs770092608
537 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA383576655
rs770092608
537 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs778277993
CA6408451
537 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs139063293
CA6408453
538 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139063293
CA6408452
538 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774933116
CA6408454
539 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA383576760
rs1265298375
540 T>R No ClinGen
gnomAD
rs759567744
CA6408455
542 H>R No ClinGen
ExAC
gnomAD
CA383576835
rs1243357527
543 F>C No ClinGen
gnomAD
rs146888515
CA232389253
543 F>L No ClinGen
ESP
TOPMed
rs143983696
CA6408456
543 F>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 544 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6408457
rs775626136
545 E>K No ClinGen
ExAC
gnomAD
CA232389270
rs200077145
547 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
gnomAD
CA383576984
rs1421764525
549 F>S No ClinGen
gnomAD
CA383577005
rs1163848778
550 S>G No ClinGen
gnomAD
CA383577052
rs753621723
551 H>L No ClinGen
ExAC
gnomAD
CA6408460
rs753621723
551 H>P No ClinGen
ExAC
gnomAD
CA6408463
rs750308942
552 I>T No ClinGen
ExAC
gnomAD
rs765186777
CA6408462
552 I>V No ClinGen
ExAC
gnomAD
rs757893568
CA6408464
554 P>L No ClinGen
ExAC
gnomAD
rs201687848
CA232389286
555 E>K No ClinGen
1000Genomes
rs751235646
CA6408466
558 E>K No ClinGen
ExAC
gnomAD
rs1336071300
CA383578068
561 R>K No ClinGen
gnomAD
CA6408467
rs754644063
561 R>S No ClinGen
ExAC
gnomAD
rs1565544933
CA383578115
563 L>S No ClinGen
Ensembl
CA6408470
rs749675666
565 I>V No ClinGen
ExAC
gnomAD
rs779587095
CA6408472
568 L>P No ClinGen
ExAC
gnomAD
rs1482413115
CA383578205
569 I>V No ClinGen
gnomAD
CA232389334
rs1002412613
571 K>Q No ClinGen
gnomAD
CA6408490
rs115935399
574 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779392155
CA6408492
575 A>D No ClinGen
ExAC
gnomAD
rs757747939
CA6408491
575 A>T No ClinGen
ExAC
gnomAD
CA232389704
rs3180469
578 Q>* No ClinGen
Ensembl
rs758935015
CA6408494
579 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA6408495
rs17725914
VAR_057511
RCV000965882
580 K>R No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6408496
rs747140063
581 N>D No ClinGen
ExAC
gnomAD
rs1275222453
CA383578466
582 P>A No ClinGen
TOPMed
gnomAD
rs768670597
CA6408497
582 P>R No ClinGen
ExAC
gnomAD
CA383578476
rs776884151
583 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs145828257
CA6408499
583 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6408498
COSM942596
rs776884151
583 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6408500
rs769642475
584 E>K No ClinGen
ExAC
gnomAD
rs1477372094
CA383578550
587 G>E No ClinGen
gnomAD
CA6408504
rs774116129
589 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA383578584
rs151273606
589 M>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6408503
rs151273606
589 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6408502
rs762596170
589 M>V No ClinGen
ExAC
gnomAD
rs141590433
CA6408505
590 V>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1287489579
CA383578624
591 T>I No ClinGen
gnomAD
rs1411003445
CA383578627
592 G>R No ClinGen
gnomAD
CA383578656
rs1348647337
594 T>A No ClinGen
gnomAD
rs752439922
CA6408507
594 T>I No ClinGen
ExAC
gnomAD
TCGA novel 595 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6408509
rs765758094
595 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA383578672
rs765758094
595 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA383578697
rs1347191882
596 C>W No ClinGen
TOPMed
rs750817353
CA6408510
597 K>I No ClinGen
ExAC
gnomAD
CA383578725
rs1217973438
598 N>H No ClinGen
TOPMed
gnomAD
rs200329416
CA6408511
598 N>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383578733
rs200329416
598 N>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs147032879
CA232389742
599 K>R No ClinGen
ESP
ExAC
gnomAD
CA6408512
rs147032879
599 K>T No ClinGen
ESP
ExAC
gnomAD
rs574601341
CA6408515
600 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs1450987147
CA383578765
600 P>R No ClinGen
gnomAD
CA6408514
rs574601341
600 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA6408513
rs574601341
600 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1047913049
CA232389752
601 N>S No ClinGen
TOPMed
gnomAD
rs1186905733
CA383578802
602 M>I No ClinGen
TOPMed
CA383578796
rs1187600833
602 M>T No ClinGen
TOPMed
gnomAD
CA383578793
rs1565545180
COSM1171933
602 M>V oesophagus [Cosmic] No ClinGen
cosmic curated
Ensembl
TCGA novel 603 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777791363
CA6408518
604 D>N No ClinGen
ExAC
gnomAD
CA6408519
rs574753127
608 S>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs148221378
CA6408520
609 R>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1378598766
CA383578874
613 E>* No ClinGen
gnomAD
CA383578895
rs1192579986
616 K>R No ClinGen
TOPMed
CA383578913
rs1396860805
618 E>D No ClinGen
gnomAD
rs1433009894
CA383578921
619 M>I No ClinGen
gnomAD
rs1306273345
CA383578957
625 Q>* No ClinGen
TOPMed
CA383578963
rs1320066754
625 Q>H No ClinGen
TOPMed
gnomAD
rs1215543881
CA383578964
626 D>N No ClinGen
TOPMed
CA383578972
rs1327283750
627 A>T No ClinGen
gnomAD
CA6408522
rs759517573
627 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA6408523
rs369699402
628 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383579004
rs935986083
631 S>C No ClinGen
TOPMed
gnomAD
CA232389764
rs935986083
631 S>F No ClinGen
TOPMed
gnomAD
rs745698478
CA6408526
632 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs778450010
CA6408525
632 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA232389770
rs913508713
633 K>N No ClinGen
TOPMed
CA6408528
rs140245065
634 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753378700
CA6408527
634 I>V No ClinGen
ExAC
gnomAD
rs1448390571
CA383579024
635 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs61751201
CA6408529
635 T>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1195747556
CA383579037
637 A>D No ClinGen
gnomAD
CA6408531
rs755462892
638 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752173146
CA6408530
638 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1053376976
CA232389780
639 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 639 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781620429
CA6408532
640 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA383579056
rs1455677887
641 I>V No ClinGen
gnomAD
CA6408535
rs778079253
642 S>G No ClinGen
ExAC
gnomAD
rs369598953
CA232389789
642 S>N No ClinGen
ESP
TOPMed
gnomAD
CA383579064
rs369598953
642 S>T No ClinGen
ESP
TOPMed
gnomAD
CA383579089
rs1309692830
645 M>T No ClinGen
TOPMed
TCGA novel 645 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6408562
rs780185175
652 V>A No ClinGen
ExAC
CA6408537
rs770801928
652 V>M No ClinGen
ExAC
gnomAD
rs768272935
CA6408564
657 I>T No ClinGen
ExAC
gnomAD
CA383579199
COSM283131
rs1229509033
659 F>L large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA383579254
rs1388159352
662 M>I No ClinGen
gnomAD
rs1175244374
CA383579245
662 M>K No ClinGen
TOPMed
gnomAD
CA383579246
rs1175244374
662 M>T No ClinGen
TOPMed
gnomAD
rs776002331
CA6408565
662 M>V No ClinGen
ExAC
gnomAD
rs1461406372
CA383579267
663 V>A No ClinGen
TOPMed
gnomAD
rs1461406372
CA383579264
663 V>D No ClinGen
TOPMed
gnomAD
CA383579370
rs769346336
669 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA6408567
rs769346336
669 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA6408566
rs577139305
669 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs200624813
CA6408569
670 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767836400
CA6408570
672 L>M No ClinGen
ExAC
gnomAD
CA6408571
rs376195353
674 G>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6408574
rs753865003
675 V>A No ClinGen
ExAC
gnomAD
CA6408573
rs764299547
675 V>L No ClinGen
ExAC
gnomAD
CA6408576
rs765575100
676 R>C Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1329315235
CA383579471
676 R>H No ClinGen
TOPMed
CA6408578
rs750628585
677 R>C No ClinGen
ExAC
gnomAD
rs148424921
CA6408579
677 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1258789
rs1172592484
CA383579506
678 M>I oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
CA6408580
rs779986183
678 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA232390095
rs779986183
678 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs142380498
CA383579519
680 P>A No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 680 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383579531
rs1427663937
680 P>L No ClinGen
gnomAD
CA232390101
rs142380498
680 P>S No ClinGen
ESP
TOPMed
gnomAD
CA6408583
rs781128388
684 S>Y No ClinGen
ExAC
gnomAD
CA383579656
rs1333124919
686 E>K No ClinGen
gnomAD
rs1442483081
CA383579705
687 P>L No ClinGen
gnomAD
rs769308867
CA6408585
687 P>T No ClinGen
ExAC
gnomAD
CA6408587
rs553615528
690 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1040000684
CA232390118
690 R>W No ClinGen
TOPMed
CA232390122
rs893044825
691 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs978192011
CA232390125
692 A>P No ClinGen
Ensembl
CA232390131
rs1041531227
693 V>G No ClinGen
TOPMed
CA6408589
rs775825528
693 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1484223798
CA383579837
695 N>D No ClinGen
TOPMed
rs761032094
CA6408590
695 N>S No ClinGen
ExAC
gnomAD
rs1484223798
CA383579838
695 N>Y No ClinGen
TOPMed
rs1243333542
CA383579872
696 A>V No ClinGen
gnomAD
CA383579906
COSM26986
rs1335484116
698 R>C kidney large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs145931156
COSM1363694
CA6408591
698 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA6408593
rs777143284
699 Q>H No ClinGen
ExAC
gnomAD
CA6408594
rs765390473
701 Y>C No ClinGen
ExAC
gnomAD
CA6408595
rs765390473
701 Y>F No ClinGen
ExAC
gnomAD
CA383579994
rs1186861790
702 L>F No ClinGen
TOPMed
gnomAD
CA383580037
rs1303508754
704 P>S No ClinGen
TOPMed
rs1222092568
CA383580059
705 K>* No ClinGen
TOPMed
rs1054845746
CA232390141
705 K>R No ClinGen
Ensembl
CA232390143
rs1003337409
706 G>R No ClinGen
TOPMed
CA6408597
rs766643810
707 D>A No ClinGen
ExAC
gnomAD
rs772522759
CA6408596
707 D>Y No ClinGen
ExAC
gnomAD
rs1346018457
CA383581235
711 A>T No ClinGen
gnomAD
rs1209858141
CA383581245
712 K>M No ClinGen
gnomAD
rs1280827123
CA383581249
713 A>T No ClinGen
gnomAD
rs756041204
CA6408620
713 A>V No ClinGen
ExAC
rs777619239
CA6408621
714 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1480634348
CA383581329
719 N>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6408623
rs560391483
721 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383581371
rs560391483
721 S>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1321991801
CA383581363
721 S>P No ClinGen
TOPMed
CA383581420
rs1436989464
725 V>A No ClinGen
gnomAD
rs745498386
CA6408626
725 V>L No ClinGen
ExAC
gnomAD
CA383581412
rs745498386
725 V>M No ClinGen
ExAC
gnomAD
rs1327364886
CA383581453
726 D>E No ClinGen
TOPMed
gnomAD
rs768963981
CA6408627
727 A>G No ClinGen
ExAC
gnomAD
CA383581469
rs768963981
727 A>V No ClinGen
ExAC
gnomAD
rs781618742
CA6408628
728 S>L No ClinGen
ExAC
gnomAD
rs1592175584
CA383581499
729 V>G No ClinGen
Ensembl
rs1369004404
CA383581511
730 G>E No ClinGen
gnomAD
rs773808799
CA6408631
732 I>T No ClinGen
ExAC
gnomAD
CA383581566
rs1349711983
733 Q>H No ClinGen
gnomAD
CA383581635
rs1212591201
738 I>T No ClinGen
gnomAD
rs375366285
CA6408678
741 E>D No ClinGen
ESP
ExAC
CA6408677
rs745868065
741 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs1165777305
CA383583530
742 F>C No ClinGen
gnomAD
TCGA novel 745 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763842161
CA6408681
746 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA6408682
rs761185581
747 E>* No ClinGen
ExAC
gnomAD
rs1432648448
CA383583741
751 A>S No ClinGen
TOPMed
gnomAD
rs1220542658
CA383583770
753 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs761738965
CA6408684
754 Q>H No ClinGen
ExAC
gnomAD
CA6408685
rs765021824
757 W>C No ClinGen
ExAC
CA383583861
rs1195806624
757 W>R No ClinGen
gnomAD
CA383583913
rs1348091995
758 E>D No ClinGen
gnomAD
rs1565546352
CA383583891
758 E>Q No ClinGen
Ensembl
CA6408687
rs575891537
759 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs749966496
CA6408686
759 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 760 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1360469939
CA383584035
762 E>G No ClinGen
TOPMed
gnomAD
COSM162816
rs61763002
CA6408689
762 E>K oesophagus breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA232392402
rs61763002
762 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA383584089
rs1592176748
764 V>G No ClinGen
Ensembl
rs778270049
CA6408691
765 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1188744102
CA383584134
766 C>R No ClinGen
gnomAD
CA383584176
rs749876235
767 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs749876235
CA6408692
767 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA232392425
rs972819783
768 P>A No ClinGen
gnomAD
CA383584199
rs972819783
768 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA383584257
rs1402183922
771 R>C No ClinGen
gnomAD
CA383584262
rs1310900245
771 R>H No ClinGen
TOPMed
gnomAD
rs1310900245
CA383584265
771 R>L No ClinGen
TOPMed
gnomAD
CA383584276
rs779228154
772 C>R No ClinGen
ExAC
gnomAD
CA6408694
rs779228154
772 C>S No ClinGen
ExAC
gnomAD
CA6408695
rs745980585
774 S>P No ClinGen
ExAC
gnomAD
CA383584356
rs1164972734
776 M>I No ClinGen
TOPMed
rs1413443276
CA383584345
776 M>K No ClinGen
gnomAD
TCGA novel 776 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772001628
CA6408696
778 L>F No ClinGen
ExAC
gnomAD
CA383584396
rs1427232816
779 G>D No ClinGen
TOPMed
rs1279729513
CA383584407
780 M>L No ClinGen
gnomAD
CA383584436
rs1341506892
781 M>K No ClinGen
TOPMed
gnomAD
CA383584432
rs1341506892
781 M>T No ClinGen
TOPMed
gnomAD
rs1000859870
COSM1676664
CA232392456
783 R>* ovary [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1242738698
CA383584469
783 R>Q No ClinGen
gnomAD
CA6408721
rs773253189
787 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA6408722
rs555328861
787 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs1461455282
CA383584654
790 G>R No ClinGen
gnomAD
rs1167978105
CA383584693
792 N>S No ClinGen
gnomAD
rs1427039429
CA383584697
793 L>V No ClinGen
TOPMed
gnomAD
CA6408723
rs539898238
795 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs774002338
CA6408724
796 L>V No ClinGen
ExAC
gnomAD
VAR_024422
rs10849482
CA6408725
797 V>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6408726
rs767298691
798 S>N No ClinGen
ExAC
gnomAD
CA6408727
rs752250325
799 I>T No ClinGen
ExAC
gnomAD
CA383584739
rs1303919612
800 G>R No ClinGen
gnomAD
rs1300581509
CA383584748
801 L>P No ClinGen
gnomAD
rs1304996535
CA383584762
803 E>G No ClinGen
TOPMed
TCGA novel 803 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383584796
rs1320004931
808 D>N No ClinGen
gnomAD
CA6408731
CA6408732
rs560070593
810 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383584815
rs1211933217
810 R>T No ClinGen
gnomAD
rs76687187
CA6408733
812 A>G No ClinGen
1000Genomes
ExAC
gnomAD
rs76687187
CA232392657
812 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1592176989
CA383584829
813 Q>P No ClinGen
Ensembl
CA383584869
rs1592176994
815 V>G No ClinGen
Ensembl
rs1399955129
CA383584901
817 H>L No ClinGen
gnomAD
CA6408734
rs572247056
819 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781436926
CA6408735
820 A>V No ClinGen
ExAC
gnomAD
rs748297703
CA6408736
821 N>D No ClinGen
ExAC
gnomAD
CA6408737
rs755997061
821 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs777426754
CA6408738
822 I>V No ClinGen
ExAC
gnomAD
rs369160973
CA6408739
823 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369160973
CA383584997
823 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774381395
CA6408741
826 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1044265729
CA232392666
827 K>R No ClinGen
TOPMed
gnomAD
CA383585115
rs1240568500
828 P>L No ClinGen
gnomAD
rs1316607660
CA383585108
828 P>S No ClinGen
gnomAD
rs771761429
CA6408761
829 S>F No ClinGen
ExAC
gnomAD
CA6408762
rs562898088
830 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs746458872
CA6408763
832 K>R No ClinGen
ExAC
gnomAD
CA383585162
rs1258140496
833 R>C No ClinGen
TOPMed
gnomAD
rs768218178
CA6408764
833 R>H No ClinGen
ExAC
gnomAD
rs1592177116
CA383585178
834 H>P No ClinGen
Ensembl
CA383585202
rs1290527575
835 P>R No ClinGen
Ensembl
CA232392781
rs1018414996
835 P>S No ClinGen
TOPMed
gnomAD
CA6408768
rs201468201
836 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs73259178
CA6408773
836 P>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs73259178
CA6408771
836 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs73259178
CA6408772
836 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201468201
CA6408770
836 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201468201
CA6408769
836 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs764251363
CA6408776
837 F>C No ClinGen
ExAC
gnomAD
rs772347389 837 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs772347389 837 F>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA383585232
rs527891354
838 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM141366
rs778834087
CA6408779
838 R>Q upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs527891354
CA6408778
838 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383585241
rs1592177143
839 L>V No ClinGen
Ensembl
rs769382114
CA6408780
840 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA232392819
rs957172228
840 P>T No ClinGen
Ensembl
CA6408782
rs375096381
842 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs562323013
CA6408781
842 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA383585330
rs1311761425
844 R>G No ClinGen
TOPMed
gnomAD
rs746535565
CA6408783
845 L>F No ClinGen
ExAC
gnomAD
CA383585377
rs1233326398
846 F>S No ClinGen
gnomAD
CA232392825
rs139932236
848 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
CA6408785
rs780760183
848 R>Q No ClinGen
ExAC
gnomAD
rs771352876
CA6408787
850 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs200921592
CA6408786
850 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6408788
rs774704688
851 E>Q No ClinGen
ExAC
gnomAD
rs1296467038
CA383585513
853 V>I No ClinGen
TOPMed
CA6408790
rs772478532
854 T>K No ClinGen
ExAC
gnomAD
CA383585733
rs1480614824
858 V>G No ClinGen
TOPMed
rs113663520
CA232392928
859 H>R No ClinGen
Ensembl
CA383585737
rs1565546701
859 H>Y No ClinGen
Ensembl
CA383585772
rs1270862633
860 P>A No ClinGen
gnomAD
rs1252381422
CA383585806
861 D>E No ClinGen
TOPMed
CA383585897
rs753674713
864 W>* No ClinGen
TOPMed
gnomAD
CA383585900
CA232392943
rs753674713
864 W>C No ClinGen
TOPMed
gnomAD
CA383585925
rs1282967115
865 I>M No ClinGen
TOPMed
rs1321850665
CA383585916
865 I>N No ClinGen
TOPMed
rs746261413
CA6408807
866 P>T No ClinGen
ExAC
gnomAD
CA6408808
rs772449545
868 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs927128257
CA232392964
870 V>M No ClinGen
Ensembl
rs1419459612
CA383586070
872 V>G No ClinGen
gnomAD
CA6408809
rs775910125
872 V>M No ClinGen
ExAC
gnomAD
TCGA novel 873 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs941238695
CA232392971
874 L>F No ClinGen
Ensembl
CA383586167
rs1333002063
877 Q>* No ClinGen
TOPMed
CA232392982
rs918535347
881 G>S No ClinGen
TOPMed
CA6408814
rs373969636
882 P>L No ClinGen
ESP
ExAC
gnomAD
rs761924426
CA6408813
882 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1405098549
CA383586360
885 I>M No ClinGen
TOPMed
rs1468103619
CA383586355
885 I>T No ClinGen
TOPMed
CA6408817
rs376684532
886 C>G No ClinGen
ESP
ExAC
gnomAD
rs754947508
CA6408819
891 Q>E No ClinGen
ExAC
TOPMed
gnomAD
COSM1492987
rs149823221
CA6408821
893 C>S kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149823221
CA383586544
893 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6408823
rs529714238
895 K>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760940470
CA6408825
897 A>P No ClinGen
ExAC
gnomAD
rs760940470
CA232393023
897 A>T No ClinGen
ExAC
gnomAD
rs780458107
CA6408826
898 L>P No ClinGen
ExAC
gnomAD
CA232393040
rs891101793
899 E>G No ClinGen
Ensembl
rs567934148
CA232393064
900 K>N No ClinGen
Ensembl
rs549446525
CA6408829
900 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs549446525
CA6408828
900 K>T No ClinGen
1000Genomes
ExAC
gnomAD
CA232393065
rs942789281
902 E>G No ClinGen
TOPMed
rs1460329218
CA383586772
904 K>E No ClinGen
TOPMed
CA6408831
rs769975634
905 R>T No ClinGen
ExAC
gnomAD
CA232393068
rs773631088
906 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs773631088
CA6408832
906 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA383586823
rs1259167593
907 S>R No ClinGen
TOPMed
rs145781104
CA6408833
911 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145781104
CA232393070
911 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6408852
rs141629311
914 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383587064
rs1565546880
915 P>L No ClinGen
Ensembl
rs1344973671
CA383587082
916 A>G No ClinGen
gnomAD
rs759414047
CA6408854
916 A>T No ClinGen
ExAC
gnomAD
TCGA novel 917 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1324892313
CA383587094
917 M>V No ClinGen
TOPMed
CA383587138
rs1164604207
919 P>L No ClinGen
TOPMed
gnomAD
CA232393174
rs1029968725
919 P>T No ClinGen
TOPMed
rs752579769
CA232393178
920 T>N No ClinGen
Ensembl
rs1280900191
CA383587145
920 T>P No ClinGen
gnomAD
rs771829488
CA6408855
921 F>L No ClinGen
ExAC
gnomAD
CA383587173
rs1392784516
921 F>S No ClinGen
gnomAD
CA6408856
rs375952478
922 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1478344737
CA383587187
922 L>P No ClinGen
TOPMed
rs953080684
CA232393192
924 M>T No ClinGen
TOPMed
gnomAD
rs1191562471
CA383587248
925 N>S No ClinGen
gnomAD
rs1191562471
CA383587246
925 N>T No ClinGen
gnomAD
CA383587304
rs1247389265
928 S>F No ClinGen
TOPMed
CA6408859
rs753399311
930 A>P No ClinGen
ExAC
gnomAD
rs761176052
CA6408860
930 A>V No ClinGen
ExAC
gnomAD
rs764970826
CA6408861
934 A>T No ClinGen
ExAC
gnomAD
CA383587461
rs1592177514
939 V>G No ClinGen
Ensembl
rs781689943
CA6408864
943 Q>L No ClinGen
ExAC
gnomAD
rs753048861
CA6408865
944 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1337489294
CA383587567
945 V>A No ClinGen
gnomAD
rs1198119934
CA383587594
946 S>R No ClinGen
gnomAD
rs1260954230
CA383587598
947 G>R No ClinGen
TOPMed
CA6408867
rs778093338
948 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA383587701
rs1440200876
950 C>W No ClinGen
TOPMed
gnomAD
rs759714048
CA6408870
951 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs145370494
CA6408869
951 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746074962
CA6408872
RCV000994830
COSM4147397
952 R>C thyroid [Cosmic] No ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA6408873
rs373602126
952 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775267429
CA6408874
953 R>* No ClinGen
ExAC
gnomAD
rs949516994
CA232393273
953 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA6408876
rs768599305
954 V>A No ClinGen
ExAC
gnomAD
CA6408875
rs753785916
954 V>I No ClinGen
ExAC
gnomAD
rs764641749
CA6408879
956 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM333235
rs147656435
CA6408878
956 R>W lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA6408880
rs750160826
961 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA232393292
rs942600606
962 K>E No ClinGen
TOPMed
gnomAD
rs527945485
CA6408882
963 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383588062
rs1458993556
964 K>E No ClinGen
TOPMed
CA383588073
rs1320252246
964 K>R No ClinGen
gnomAD
CA383588111
rs1231619080
965 D>G No ClinGen
gnomAD
rs1265087537
CA383588126
966 P>A No ClinGen
gnomAD
rs368743000
CA6408883
967 K>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs750520878
CA6408907
971 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs750520878
CA383589682
971 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs141891272
CA6408910
973 S>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs754870926
CA6408911
974 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA232393655
rs867015735
974 E>K No ClinGen
Ensembl
rs552225344
CA6408912
975 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747923932
CA6408913
976 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs970819686
CA232393664
976 T>I No ClinGen
gnomAD
rs1396627617
CA603484172
977 M>* No ClinGen
TOPMed
CA6408915
rs559117736
977 M>I No ClinGen
1000Genomes
ExAC
gnomAD
CA383589791
rs1565547198
977 M>T No ClinGen
Ensembl
CA383589781
rs1359858675
977 M>V No ClinGen
TOPMed
gnomAD
rs774202915
CA6408919
984 V>A No ClinGen
ExAC
gnomAD
CA6408918
rs770545116
984 V>L No ClinGen
ExAC
gnomAD
rs1166904134
CA383589997
986 A>T No ClinGen
TOPMed
rs1419668971
CA383590071
989 D>E No ClinGen
TOPMed
rs767129732
CA6408921
990 D>N No ClinGen
ExAC
gnomAD
CA383590104
rs1188379934
991 T>S No ClinGen
TOPMed
CA6408922
rs776872395
992 E>G No ClinGen
ExAC
gnomAD
rs1413324059
CA383590118
992 E>Q No ClinGen
gnomAD
CA232393704
rs926784989
994 E>K No ClinGen
Ensembl
rs765761412
CA6408924
996 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs750894814
CA6408925
COSM942599
997 R>C endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA6408926
rs758518981
997 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA6408927
rs766445226
998 G>A No ClinGen
ExAC
gnomAD
CA6408928
rs751574432
999 I>M No ClinGen
ExAC
gnomAD
CA383590289
rs1365394456
1000 C>F No ClinGen
gnomAD
rs781430629
CA6408930
1001 E>K No ClinGen
ExAC
gnomAD
rs1196234958
CA383590376
1003 E>Q No ClinGen
gnomAD
CA6408931
rs747927145
1004 L>M No ClinGen
ExAC
gnomAD
rs747927145
CA6408932
1004 L>V No ClinGen
ExAC
gnomAD
CA6408935
rs770630836
1005 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA232393727
rs973592259
1006 D>N No ClinGen
Ensembl
rs867422941
CA232393772
1007 G>D No ClinGen
Ensembl
rs1477246743
CA383590461
1007 G>R No ClinGen
gnomAD
rs1477246743
CA383590458
1007 G>S No ClinGen
gnomAD
CA383590551
rs1441390548
1008 K>E No ClinGen
TOPMed
gnomAD
CA383590548
rs1441390548
1008 K>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1277094533
CA383590558
1008 K>R No ClinGen
TOPMed
gnomAD
rs770118614
CA6408944
1010 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA6408945
rs773763595
1014 F>L No ClinGen
ExAC
gnomAD
rs763458491
CA6408946
1014 F>S No ClinGen
ExAC
gnomAD
CA383590722
rs1592178028
1016 P>L No ClinGen
Ensembl
rs1592178025
CA383590716
1016 P>S No ClinGen
Ensembl
rs766817718
CA6408947
1017 L>V No ClinGen
ExAC
gnomAD
CA6408948
rs751617976
1018 L>F No ClinGen
ExAC
gnomAD
CA383590757
rs1210785759
1018 L>S No ClinGen
TOPMed
gnomAD
rs1040808363
CA232393808
1023 N>D No ClinGen
Ensembl
CA383590906
rs1491001809
1023 N>I No ClinGen
gnomAD
CA232393815
rs899580035
1027 L>F No ClinGen
gnomAD
rs1478194264
CA383591001
1027 L>R No ClinGen
gnomAD
CA690985766
rs1232298598
1028 Y>* No ClinGen
TOPMed
CA383591006
rs1592178046
1028 Y>C No ClinGen
Ensembl
rs936195223
CA232393819
1029 S>R No ClinGen
TOPMed
rs148269816
CA6408951
1031 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1253830994
CA383591087
1032 D>G No ClinGen
TOPMed
CA6408952
rs755921917
1032 D>N No ClinGen
ExAC
gnomAD
rs1351543825
CA383591229
1037 A>P No ClinGen
TOPMed
gnomAD
CA6408954
rs753618516
1039 L>R No ClinGen
ExAC
gnomAD
CA6408955
rs757270086
1040 A>V No ClinGen
ExAC
gnomAD
CA232393844
rs112784312
1042 G>S No ClinGen
Ensembl
TCGA novel 1043 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771579024
CA6408958
1045 C>* No ClinGen
ExAC
gnomAD
CA6408957
rs745400484
1045 C>R No ClinGen
ExAC
gnomAD
rs1355253961
CA383591446
1045 C>Y No ClinGen
gnomAD
rs1291107687
CA383591562
1048 S>R No ClinGen
gnomAD
rs529956181
CA232393895
1049 A>V No ClinGen
Ensembl
CA232393900
rs1020969156
1050 T>I No ClinGen
Ensembl
rs1565547372
CA383591741
1051 F>Y No ClinGen
Ensembl
rs1385392397
CA383591812
1053 D>G No ClinGen
gnomAD
rs779610078
CA6408976
1053 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1042057335
CA383591864
1054 S>F No ClinGen
TOPMed
gnomAD
rs1042057335
CA232393920
1054 S>Y No ClinGen
TOPMed
gnomAD
CA6408978
rs754648578
1057 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780783630
CA6408979
1057 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA6408980
rs749693715
1060 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1395790061
CA383592007
1060 F>S No ClinGen
TOPMed
CA383592044
rs1441931164
1062 M>V No ClinGen
gnomAD
rs140333484
CA232393969
1063 L>V No ClinGen
ESP
TOPMed
gnomAD
CA6408981
rs771267179
1064 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1244117357
CA383592090
1064 E>K No ClinGen
TOPMed
CA232393976
rs376901782
1065 K>E No ClinGen
Ensembl
rs150344215
CA383592147
1065 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383592132
rs1437564196
1065 K>R No ClinGen
TOPMed
gnomAD
CA383592182
rs1380833439
1067 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 1067 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746385360
CA6408983
1068 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs746385360
CA232393980
1068 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs772391132
CA232393986
1069 P>H No ClinGen
ExAC
gnomAD
CA6408984
rs772391132
1069 P>R No ClinGen
ExAC
gnomAD
CA383592194
rs1303510000
1069 P>T No ClinGen
TOPMed
CA6408985
rs566534807
1070 I>M No ClinGen
ExAC
gnomAD
rs1414578905
CA383592225
1071 V>I No ClinGen
gnomAD
rs760783711
CA6408986
1072 R>G No ClinGen
ExAC
gnomAD
CA6408987
rs764438216
1072 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs760783711
CA383592251
1072 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1365034772
CA383592275
1073 S>A No ClinGen
TOPMed
CA6408989
rs776962591
1074 N>T No ClinGen
ExAC
gnomAD
rs1378279199
CA383592329
1075 L>F No ClinGen
TOPMed
gnomAD
CA232394009
rs974005511
1075 L>H No ClinGen
Ensembl
rs920743401
CA232394010
1076 M>I No ClinGen
gnomAD
rs761748740
CA6408990
1076 M>K No ClinGen
ExAC
gnomAD
rs929564192
CA232394011
1077 V>A No ClinGen
TOPMed
CA6408991
rs765067047
1078 A>V No ClinGen
ExAC
gnomAD
rs1201155682
CA383592398
1080 G>R No ClinGen
gnomAD
rs763728649
CA6408992
1081 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs137946874
CA6408993
1081 D>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766180121
CA6408994
1083 A>T No ClinGen
ExAC
gnomAD
rs751101647
CA6408995
1083 A>V No ClinGen
ExAC
CA383592461
rs1420655691
1084 I>V No ClinGen
gnomAD
rs199911941
CA6408996
1085 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780875665
CA6408997
1085 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs747789607
CA6408998
1087 P>A No ClinGen
ExAC
gnomAD
rs757688351
CA6408999
1088 N>S No ClinGen
ExAC
gnomAD
CA383592550
rs1421019529
1089 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA232394029
rs955405147
1092 P>H No ClinGen
TOPMed
rs1040672241
CA232394025
1092 P>T No ClinGen
Ensembl
rs1187363713
CA383592682
1094 T>A No ClinGen
TOPMed
TCGA novel 1095 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768833927
CA6409006
1100 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6409007
rs145942484
1100 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383592902
rs145942484
1100 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6409036
rs201735986
1102 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs760060496
CA6409035
1102 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs927733594
CA232394214
1104 P>S No ClinGen
TOPMed
CA232394215
rs1003430222
1108 V>A No ClinGen
TOPMed
gnomAD
rs758855845
CA383593248
1109 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA6409039
rs377720436
1109 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6409038
rs758855845
1109 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA383593279
rs1364339867
1111 T>I No ClinGen
TOPMed
gnomAD
CA383593276
rs1364339867
1111 T>K No ClinGen
TOPMed
gnomAD
CA6409041
rs751904500
1112 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA6409040
rs751904500
1112 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA232394264
rs995240821
1113 G>E No ClinGen
Ensembl
CA6409045
rs778115986
1114 L>V No ClinGen
ExAC
gnomAD
rs144412706
CA6409046
1116 M>T No ClinGen
ESP
ExAC
gnomAD
CA6409047
rs771079029
1118 H>L No ClinGen
ExAC
gnomAD
TCGA novel 1120 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6409049
rs759275805
1122 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1592178411
CA383593516
1124 M>T No ClinGen
Ensembl
rs1256445771
CA383593591
1128 K>T No ClinGen
gnomAD
CA6409051
rs775371502
1130 Q>* No ClinGen
ExAC
rs760278075
CA6409052
1131 V>F No ClinGen
ExAC
gnomAD
rs1592178427
CA383593669
1131 V>G No ClinGen
Ensembl
CA6409054
rs753592881
1133 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs761374345
CA6409055
1134 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA6409056
rs764924444
1135 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1592178439
CA383593790
1136 V>G No ClinGen
Ensembl
CA6409058
rs755365795
1136 V>M No ClinGen
ExAC
gnomAD
CA383593805
rs1407161636
1137 L>Q No ClinGen
gnomAD
CA383593863
rs1262181768
1140 D>A No ClinGen
TOPMed
CA383593866
rs1262181768
1140 D>G No ClinGen
TOPMed
rs756287772
CA6409061
1140 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA6409062
rs777724116
1142 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1309094201
CA383593944
1143 P>L No ClinGen
gnomAD
CA232394413
rs966285425
1147 A>P No ClinGen
TOPMed
rs966285425
CA383594001
1147 A>S No ClinGen
TOPMed
CA6409065
rs779063654
1150 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA383594046
rs1236673034
1151 N>S No ClinGen
gnomAD
RCV000761816
rs1592178488
1153 F>missing No ClinVar
dbSNP
CA6409067
rs199672478
1154 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775551952
CA6409068
1156 L>F No ClinGen
ExAC
gnomAD
CA383594094
rs1431479013
1158 H>Y No ClinGen
gnomAD
CA6409083
rs757293887
1160 G>S No ClinGen
ExAC
gnomAD
rs740850
CA383594133
1161 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746072942
CA6409085
1162 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA232394615
rs376852566
1163 I>T No ClinGen
Ensembl
rs1042256199
CA232394608
1163 I>V No ClinGen
TOPMed
rs35819349
CA6409087
1165 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1020979197
CA383594189
1166 L>F No ClinGen
TOPMed
gnomAD
TCGA novel 1166 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768498216
CA6409089
1166 L>R No ClinGen
ExAC
gnomAD
CA232394659
rs1020979197
1166 L>V No ClinGen
TOPMed
gnomAD
rs139998720
CA6409090
1167 L>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145398040
CA6409092
1170 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV000952977
CA6409093
rs71579325
1170 I>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA383594236
rs145398040
1170 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766002564
CA6409095
COSM942600
1173 R>C Variant assessed as Somatic; 0.0 impact. urinary_tract endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs183788505
CA6409097
1173 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs183788505
CA6409096
1173 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs754345866
CA6409099
1178 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA6409100
rs761935164
1179 L>R No ClinGen
ExAC
gnomAD
rs1472426192
CA383594354
CA383594356
1180 G>R No ClinGen
TOPMed
CA6409101
rs765293144
1181 V>M No ClinGen
ExAC
gnomAD
rs1438505109
CA383594457
1186 F>L No ClinGen
TOPMed
CA6409102
rs149767105
1187 H>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758632306
CA6409103
1187 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA383594503
rs1565547811
1188 T>I No ClinGen
Ensembl
CA383594510
rs751341613
1189 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA6409105
rs751341613
1189 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1228177349
CA383594526
1190 M>V No ClinGen
TOPMed
TCGA novel 1192 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383596264
rs1351431978
1197 I>T No ClinGen
TOPMed
gnomAD
rs1163329000
CA383596258
1197 I>V No ClinGen
TOPMed
CA6409129
rs200410385
1200 D>G No ClinGen
1000Genomes
ExAC
TOPMed
rs367671840
CA232395141
1200 D>N No ClinGen
Ensembl
CA383596320
rs1461093595
1201 K>E No ClinGen
gnomAD
CA6409131
rs777815289
1203 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1244672459
CA383596380
1204 E>D No ClinGen
gnomAD
CA6409132
rs748850248
1205 S>N No ClinGen
ExAC
gnomAD
rs940733540
CA232395162
1205 S>R No ClinGen
Ensembl
CA383596404
rs748850248
1205 S>T No ClinGen
ExAC
gnomAD
rs963896703
CA232395177
1210 L>V No ClinGen
TOPMed
gnomAD
rs1040333456
CA232395184
1212 Q>* No ClinGen
gnomAD
rs373223388
CA6409134
1212 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6409133
rs373223388
1212 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA232395202
rs932030786
1213 R>Q No ClinGen
gnomAD
CA383596592
rs1469946630
1213 R>W No ClinGen
gnomAD
rs555494125
CA6409135
1215 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383596623
rs555494125
1215 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771553945
CA6409136
1215 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6409137
rs575359551
1216 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1231776815
CA383596664
1218 R>* No ClinGen
gnomAD
CA6409138
RCV000965883
rs61731148
1218 R>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA383596668
rs61731148
1218 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6409139
rs61731148
1218 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA232395418
rs370458466
1221 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6409161
rs199575493
1221 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6409160
rs370458466
1221 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA232395441
rs1019200749
1222 Q>R No ClinGen
TOPMed
rs749807940
CA6409162
1223 Q>R No ClinGen
ExAC
gnomAD
rs1193474325
CA383596809
1224 R>* No ClinGen
TOPMed
gnomAD
CA383596807
rs1193474325
1224 R>G No ClinGen
TOPMed
gnomAD
rs1373953332
CA383596812
1224 R>Q No ClinGen
gnomAD
rs1463871817
CA383596819
1225 D>N No ClinGen
gnomAD
rs1162197971
CA383596830
1225 D>V No ClinGen
gnomAD
rs774515068
CA6409164
1228 Y>S No ClinGen
ExAC
gnomAD
rs759496497
CA6409165
1229 C>R No ClinGen
ExAC
gnomAD
rs1382896370
CA383596883
1229 C>Y No ClinGen
gnomAD
CA6409166
rs767896125
1232 Q>* No ClinGen
ExAC
gnomAD
rs1201170710
CA383596933
1235 L>F No ClinGen
TOPMed
rs950114293
CA232395486
1235 L>R No ClinGen
gnomAD
CA383596951
rs1242408234
1238 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs760601566
CA6409168
1238 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs753507430
CA383596960
1240 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs568168937
CA6409171
1240 L>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs753507430
CA6409170
1240 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA383596975
rs1485276238
1241 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs145700246
CA6409172
1241 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs145700246
CA383596978
1241 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383596995
rs1396158551
1243 M>T No ClinGen
TOPMed
CA232395495
rs963949265
1244 L>F No ClinGen
TOPMed
rs1300746470
CA383597002
1244 L>P No ClinGen
TOPMed
rs757872384
CA6409174
1248 D>E No ClinGen
ExAC
gnomAD
CA383597051
rs1424083804
1251 G>R No ClinGen
TOPMed
CA6409176
rs746660180
1253 K>I No ClinGen
ExAC
gnomAD
CA383597069
rs746660180
1253 K>R No ClinGen
ExAC
gnomAD
rs896106461
CA232395520
1257 E>V No ClinGen
Ensembl
rs143558583
CA232395532
1258 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143558583
CA6409177
COSM124685
1258 S>Y upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA6409179
rs749568050
1259 I>T No ClinGen
ExAC
gnomAD
rs367748817
CA6409178
1259 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383597113
rs1453177336
1260 F>S No ClinGen
gnomAD
rs550917748
CA6409181
1261 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1261 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs571079372
CA6409182
1262 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6409183
rs540155011
1264 L>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs540155011
CA6409184
1264 L>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760978668
CA6409185
1265 S>A No ClinGen
ExAC
gnomAD
rs768938249
CA6409186
1266 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs137981914
CA6409188
1267 V>G No ClinGen
ExAC
gnomAD
CA6409187
rs117693002
1267 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1262119428
CA383597161
1268 G>D No ClinGen
gnomAD
CA6409191
rs762518201
1271 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs765878757
CA6409192
1272 R>C No ClinGen
ExAC
gnomAD
CA232395645
rs778637362
1272 R>H No ClinGen
TOPMed
gnomAD
rs751014766
CA6409193
1273 G>E No ClinGen
ExAC
gnomAD
TCGA novel 1274 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383597195
rs1310060656
1274 A>V No ClinGen
TOPMed
CA6409194
rs754648653
1275 K>E No ClinGen
ExAC
gnomAD
CA6409195
rs780672076
1275 K>T No ClinGen
ExAC
gnomAD
CA383597206
rs1468379650
1276 P>R No ClinGen
gnomAD
rs1403853695
CA383597317
1281 I>L No ClinGen
TOPMed
gnomAD
rs1283492437
CA383597330
1281 I>M No ClinGen
TOPMed
gnomAD
rs1403853695
CA383597320
1281 I>V No ClinGen
TOPMed
gnomAD
CA383597349
rs779146378
1282 I>R No ClinGen
ExAC
TOPMed
gnomAD
CA6409215
rs779146378
1282 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA383597335
rs1347078774
1282 I>V No ClinGen
gnomAD
CA383597407
rs1565548507
1286 E>K No ClinGen
Ensembl
rs1268944323
CA383597540
1289 L>F No ClinGen
gnomAD
CA232396054
rs368324917
1290 R>Q No ClinGen
ESP
TOPMed
gnomAD
CA383597557
rs1307291517
COSM1363702
1290 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1291 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA383597597
rs1489870291
1292 C>R No ClinGen
gnomAD
rs201167890
CA6409217
1293 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA383597707
rs780665574
1296 G>D No ClinGen
ExAC
gnomAD
rs780665574
CA6409218
1296 G>V No ClinGen
ExAC
gnomAD
rs920568435
CA232396058
1299 G>R No ClinGen
TOPMed
gnomAD
rs887404872
CA232396063
1301 K>E No ClinGen
TOPMed
gnomAD
CA383597831
rs1428920182
1303 L>V No ClinGen
gnomAD
rs1268504593
CA383597855
1304 E>G No ClinGen
Ensembl
CA6409219
rs185696673
1306 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6409220
rs768596090
1308 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA383597942
rs1423450108
1309 G>V No ClinGen
gnomAD
rs983699259
CA232396078
1311 Q>* No ClinGen
TOPMed
CA383597980
rs1565548532
1311 Q>L No ClinGen
Ensembl
CA383598001
rs1303293740
1312 R>K No ClinGen
gnomAD
CA6409221
rs563085688
1312 R>S No ClinGen
ExAC
gnomAD
rs1387754035
CA383598010
1313 A>T No ClinGen
TOPMed
CA383598046
rs1592179708
1315 S>P No ClinGen
Ensembl
CA6409224
rs772906249
1316 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA6409225
rs749043373
1318 K>N No ClinGen
ExAC
gnomAD
CA383598120
rs1298349531
1319 P>A No ClinGen
TOPMed
CA383598135
rs1357995135
1320 S>A No ClinGen
gnomAD
rs770899017
CA6409227
1321 T>A No ClinGen
ExAC
gnomAD
VAR_058713
rs2240871
CA6409228
1321 T>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA6409230
rs200487459
1322 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs867468677
CA232396212
1322 G>V No ClinGen
Ensembl
CA232396213
rs375102795
1325 Y>* No ClinGen
ESP
TOPMed
CA383598286
rs757407957
1325 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA6409262
rs757407957
1325 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA6409264
rs745623301
1327 P>L No ClinGen
ExAC
gnomAD
rs771931892
CA6409265
1329 A>V No ClinGen
ExAC
gnomAD
rs1196806613
CA383598466
1335 N>K No ClinGen
gnomAD
rs150713925
CA6409267
1335 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA383598478
rs1400660777
1336 D>H No ClinGen
gnomAD
CA383598532
rs768266220
1337 F>L No ClinGen
ExAC
gnomAD
CA383598538
rs1200971862
1338 V>L No ClinGen
TOPMed
CA6409271
rs369464603
1340 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383598593
rs1278156529
1340 P>L No ClinGen
TOPMed
CA6409270
COSM942602
rs369464603
1340 P>S Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202123025
CA6409272
1341 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs759914474
CA6409273
COSM162817
1343 R>C NS [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs759914474
CA383598659
1343 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA6409274
rs767960393
1343 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs767960393
CA383598664
1343 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs759914474
CA383598661
1343 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs768229078
CA6409275
1344 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6409276
rs760736035
1344 R>H Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA383598669
rs768229078
1344 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1281582496
CA383598693
1345 T>A No ClinGen
gnomAD
CA6409277
rs764167695
1346 T>P No ClinGen
ExAC
gnomAD
rs373233854
CA6409279
1347 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6409280
rs373233854
1347 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6409281
rs140382418
1347 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6409283
rs779911821
1348 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs758188413
CA6409282
1348 R>W No ClinGen
ExAC
gnomAD
CA232396246
rs200908224
1349 H>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA232396259
rs998886798
1350 P>S No ClinGen
TOPMed
gnomAD
CA383598836
rs1200554459
1352 T>S No ClinGen
gnomAD
TCGA novel 1353 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1031646703
CA232396262
1353 Q>R No ClinGen
Ensembl
rs1379696785
CA383598873
1354 Q>E No ClinGen
gnomAD
CA232396271
rs960416335
1355 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs370927177
CA6409286
1355 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA383598984
rs1167823875
1359 K>T No ClinGen
gnomAD
CA383599025
rs1431688133
1361 P>R No ClinGen
gnomAD
rs1371760448
CA383599016
1361 P>S No ClinGen
gnomAD
CA383599068
rs1444213061
1363 V>F No ClinGen
TOPMed
CA383599102
rs1241576207
1365 F>L No ClinGen
TOPMed
CA6409287
rs747621834
1365 F>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1368 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6409288
rs769611228
1369 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA232396297
rs1014299559
1372 E>K No ClinGen
TOPMed
CA383599937
rs1424467625
1374 D>E No ClinGen
gnomAD
CA6409309
rs770435927
1374 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA232396537
rs548656569
1375 L>P No ClinGen
TOPMed
gnomAD
CA383600024
rs1362150753
1378 E>D No ClinGen
gnomAD
rs1160225683
CA383600074
1379 M>I No ClinGen
gnomAD
CA383600033
rs1470042306
1379 M>L No ClinGen
gnomAD
RCV000950774
rs61752289
CA6409311
1383 E>K No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM549632
rs747329947
CA6409312
1384 T>I lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6409314
rs769187957
1386 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs769187957
CA6409313
1386 K>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM3704360
rs1176240536
CA383600285
1386 K>R liver [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1479735181
CA383600305
1387 K>E No ClinGen
TOPMed
CA383600340
rs1592180197
1389 T>P No ClinGen
Ensembl
CA6409315
rs140130874
1390 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6409316
rs140130874
1390 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1334688291
CA383600418
1392 L>P No ClinGen
gnomAD
CA6409317
rs773097640
1394 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA6409318
rs763249981
1395 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA6409320
rs751412550
1396 A>T No ClinGen
ExAC
gnomAD
rs1202243479
CA383600514
1397 R>C No ClinGen
TOPMed
gnomAD
rs545349359
CA6409322
1397 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA6409321
rs545349359
1397 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA232396616
rs202191153
1398 R>M No ClinGen
1000Genomes
CA383600624
rs1354052146
1402 S>W No ClinGen
TOPMed
gnomAD
CA383600633
rs1184117022
1402 S>Y No ClinGen
gnomAD

1 associated diseases with Q15021

[MIM: 617983]: Microcephaly 21, primary, autosomal recessive (MCPH21)

A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH21 features include mild intellectual disability, intrauterine growth retardation, short stature, and microcephaly. {ECO:0000269|PubMed:27737959, ECO:0000269|PubMed:28097321}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH21 features include mild intellectual disability, intrauterine growth retardation, short stature, and microcephaly. {ECO:0000269|PubMed:27737959, ECO:0000269|PubMed:28097321}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q15021

Type Name Position InterPro Accession
domain Condensin complex subunit 1, N-terminal 77 - 240 IPR024324
domain Condensin complex subunit 1, C-terminal 1070 - 1230 IPR032682

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Cytoplasm
  • Chromosome
  • In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin
  • A subpopulation of the complex however remains associated with chromosome foci in interphase cells
  • During mitosis, most of the condensin complex is associated with the chromatin
  • At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDK1, leading to condensin's association with chromosome arms and to chromosome condensation
  • Dissociation from chromosomes is observed in late telophase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
condensed chromosome A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct structure.
condensed chromosome, centromeric region The region of a condensed chromosome that includes the centromere and associated proteins, including the kinetochore. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome.
condensin complex A multisubunit protein complex that plays a central role in chromosome condensation in meiosis and mitosis.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.

1 GO annotations of molecular function

Name Definition
histone binding Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.

4 GO annotations of biological process

Name Definition
cell division The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
meiotic chromosome condensation Compaction of chromatin structure prior to meiosis in eukaryotic cells.
mitotic chromosome condensation The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells.
positive regulation of chromosome condensation Any process that activates or increases the frequency, rate or extent of chromosome condensation.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P42695 NCAPD3 Condensin-2 complex subunit D3 Homo sapiens (Human) PR
Q8K2Z4 Ncapd2 Condensin complex subunit 1 Mus musculus (Mouse) PR
10 20 30 40 50 60
MAPQMYEFHL PLSPEELLKS GGVNQYVVQE VLSIKHLPPQ LRAFQAAFRA QGPLAMLQHF
70 80 90 100 110 120
DTIYSILHHF RSIDPGLKED TLQFLIKVVS RHSQELPAIL DDTTLSGSDR NAHLNALKMN
130 140 150 160 170 180
CYALIRLLES FETMASQTNL VDLDLGGKGK KARTKAAHGF DWEEERQPIL QLLTQLLQLD
190 200 210 220 230 240
IRHLWNHSII EEEFVSLVTG CCYRLLENPT INHQKNRPTR EAITHLLGVA LTRYNHMLSA
250 260 270 280 290 300
TVKIIQMLQH FEHLAPVLVA AVSLWATDYG MKSIVGEIVR EIGQKCPQEL SRDPSGTKGF
310 320 330 340 350 360
AAFLTELAER VPAILMSSMC ILLDHLDGEN YMMRNAVLAA MAEMVLQVLS GDQLEAAARD
370 380 390 400 410 420
TRDQFLDTLQ AHGHDVNSFV RSRVLQLFTR IVQQKALPLT RFQAVVALAV GRLADKSVLV
430 440 450 460 470 480
CKNAIQLLAS FLANNPFSCK LSDADLAGPL QKETQKLQEM RAQRRTAAAS AVLDPEEEWE
490 500 510 520 530 540
AMLPELKSTL QQLLQLPQGE EEIPEQIANT ETTEDVKGRI YQLLAKASYK KAIILTREAT
550 560 570 580 590 600
GHFQESEPFS HIDPEESEET RLLNILGLIF KGPAASTQEK NPRESTGNMV TGQTVCKNKP
610 620 630 640 650 660
NMSDPEESRG NDELVKQEML VQYLQDAYSF SRKITEAIGI ISKMMYENTT TVVQEVIEFF
670 680 690 700 710 720
VMVFQFGVPQ ALFGVRRMLP LIWSKEPGVR EAVLNAYRQL YLNPKGDSAR AKAQALIQNL
730 740 750 760 770 780
SLLLVDASVG TIQCLEEILC EFVQKDELKP AVTQLLWERA TEKVACCPLE RCSSVMLLGM
790 800 810 820 830 840
MARGKPEIVG SNLDTLVSIG LDEKFPQDYR LAQQVCHAIA NISDRRKPSL GKRHPPFRLP
850 860 870 880 890 900
QEHRLFERLR ETVTKGFVHP DPLWIPFKEV AVTLIYQLAE GPEVICAQIL QGCAKQALEK
910 920 930 940 950 960
LEEKRTSQED PKESPAMLPT FLLMNLLSLA GDVALQQLVH LEQAVSGELC RRRVLREEQE
970 980 990 1000 1010 1020
HKTKDPKEKN TSSETTMEEE LGLVGATADD TEAELIRGIC EMELLDGKQT LAAFVPLLLK
1030 1040 1050 1060 1070 1080
VCNNPGLYSN PDLSAAASLA LGKFCMISAT FCDSQLRLLF TMLEKSPLPI VRSNLMVATG
1090 1100 1110 1120 1130 1140
DLAIRFPNLV DPWTPHLYAR LRDPAQQVRK TAGLVMTHLI LKDMVKVKGQ VSEMAVLLID
1150 1160 1170 1180 1190 1200
PEPQIAALAK NFFNELSHKG NAIYNLLPDI ISRLSDPELG VEEEPFHTIM KQLLSYITKD
1210 1220 1230 1240 1250 1260
KQTESLVEKL CQRFRTSRTE RQQRDLAYCV SQLPLTERGL RKMLDNFDCF GDKLSDESIF
1270 1280 1290 1300 1310 1320
SAFLSVVGKL RRGAKPEGKA IIDEFEQKLR ACHTRGLDGI KELEIGQAGS QRAPSAKKPS
1330 1340 1350 1360 1370 1380
TGSRYQPLAS TASDNDFVTP EPRRTTRRHP NTQQRASKKK PKVVFSSDES SEEDLSAEMT
1390 1400
EDETPKKTTP ILRASARRHR S