Descriptions

Myosin-7 (MYH7, also named Myosin heavy chain, cardiac muscle β isoform) is an actin-based motor molecule with ATPase activity essential for muscle contraction. Several mutations in MYH7 are frequent causes of hypertrophic cardiomyopathy (HCM), a disease characterized by hypercontractility and eventual hypertrophy of the left ventricle. Many HCM-causing mutations appear to reduce myosin's ability to form an autoinhibited state. In an autoinhibited state, the myosin heads fold back onto their own subfragment 2 (S2) tail in a conformation known as the interacting heads motif (IHM). One of the two heads in the dimer has its actin-binding interface buried in the folded structure; this head is referred to as the blocked head, while the other is called the free head, since its actin-binding interface is not hidden structurally. Many myosin types have the folded back IHM structure. The IHM structure correlates to an ultra-low basal ATPase rate in the absence of an action called the 'super relaxed state'. Heads lacking the S2 tail mostly have a faster basal ATPase rate referred to as the 'disordered relaxed state'. Especially, mutations in the myosin lever arm or the pliant region of the lever arm can affect myosin function either by altering its intrinsic motor activity, and/or reducing its ability to form the autoinhibited state.

Autoinhibitory domains (AIDs)

Target domain

79-784 (Myosin head, motor domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for P35580

Entry ID Method Resolution Chain Position Source
4PD3 X-ray 284 A A/B 1-782 PDB
AF-P35580-F1 Predicted AlphaFoldDB

1069 variants for P35580

Variant ID(s) Position Change Description Diseaes Association Provenance
rs797044880
RCV000190694
CA204664
908 E>* Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs138732743
CA8377496
RCV000756373
RCV002533121
1061 D>E Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs755969165
RCV000787338
RCV000787339
CA398030360
1471 R>P Hypertelorism [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA287620402
RCV001263350
COSM1258422
RCV001264676
rs1038557470
1863 R>Q Global developmental delay oesophagus [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
TCGA novel 1 M>? Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1418057889
CA398231820
2 A>E No ClinGen
gnomAD
CA398231807
rs1487792225
4 R>K No ClinGen
TOPMed
CA8378194
rs756126118
7 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs751196957
CA8378190
8 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA8378192
rs767198768
8 E>K No ClinGen
ExAC
gnomAD
rs372687399
CA8378189
9 D>G No ClinGen
ESP
ExAC
gnomAD
CA398231779
rs1198683279
9 D>N No ClinGen
gnomAD
CA8378188
rs763181526
10 P>S No ClinGen
ExAC
gnomAD
rs770174008
CA8378186
11 E>A No ClinGen
ExAC
CA8378187
rs773679271
11 E>K No ClinGen
ExAC
gnomAD
TCGA novel 15 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1598004940
CA398231728
16 V>G No ClinGen
Ensembl
rs1208658210
CA398231719
18 R>G No ClinGen
gnomAD
rs1230228219
CA398231695
21 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs776679361
CA8378184
21 I>T No ClinGen
ExAC
gnomAD
CA398231690
rs1341561656
22 Y>C No ClinGen
gnomAD
CA398231681
rs1434830364
23 N>K No ClinGen
TOPMed
CA8378183
rs267605106
23 N>T No ClinGen
ExAC
gnomAD
rs1398401617
CA398231666
26 T>A No ClinGen
gnomAD
rs1176593697
CA398231664
26 T>N No ClinGen
TOPMed
CA398231648
rs1367614654
28 A>V No ClinGen
gnomAD
CA8378182
rs747098662
30 W>R No ClinGen
ExAC
gnomAD
rs759140776
CA287635164
32 A>V No ClinGen
Ensembl
rs780207864
CA8378181
33 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA398231610
rs1419369306
34 K>R No ClinGen
TOPMed
TCGA novel 34 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 35 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8378180
rs772359659
36 V>M No ClinGen
ExAC
gnomAD
rs986915115
CA287635161
39 P>A No ClinGen
Ensembl
CA8378178
rs777663259
42 R>H No ClinGen
ExAC
gnomAD
CA398231498
rs1481215680
51 K>Q No ClinGen
gnomAD
CA398231494
rs1269236006
51 K>R No ClinGen
gnomAD
rs1197703640
CA398231482
53 E>K No ClinGen
gnomAD
rs1197703640
CA398231481
53 E>Q No ClinGen
gnomAD
CA8378176
rs142113205
54 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377262737
CA8378177
54 R>W Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8378175
rs754469351
55 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA8378174
rs754469351
55 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs538632736
CA287635136
56 D>G No ClinGen
gnomAD
rs751139947
CA8378173
56 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA398231446
rs1366200537
59 M>V No ClinGen
TOPMed
CA398231429
rs1347763968
61 E>G No ClinGen
gnomAD
rs1275715606
CA398231424
62 L>M No ClinGen
gnomAD
CA8378172
rs765928187
63 A>T No ClinGen
ExAC
gnomAD
rs1329451736
CA398231408
64 E>G No ClinGen
gnomAD
CA8378171
rs762710196
66 G>R No ClinGen
ExAC
gnomAD
TCGA novel 67 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1221426457
CA398231376
68 K>N No ClinGen
TOPMed
rs1410474142
CA398231368
70 M>V No ClinGen
gnomAD
CA8378170
rs750752525
74 D>G No ClinGen
ExAC
gnomAD
CA398231338
rs1399368512
74 D>N No ClinGen
gnomAD
rs1399368512
CA398231336
74 D>Y No ClinGen
gnomAD
CA8378169
rs148645531
76 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 77 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1598004352
CA398231300
79 M>V No ClinGen
Ensembl
COSM3422036
CA398231251
rs1353401334
85 S>F large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1237550113
CA398231242
87 V>M No ClinGen
TOPMed
rs769183775
CA8378166
97 N>D No ClinGen
ExAC
TOPMed
CA287635122
rs769183775
97 N>H No ClinGen
ExAC
TOPMed
rs760696372
CA287635116
98 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA398231161
rs1234131918
98 E>K No ClinGen
gnomAD
CA8378163
rs537008138
101 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs994861913
CA287635110
103 H>R No ClinGen
TOPMed
CA398231100
rs1441597090
107 D>G No ClinGen
gnomAD
CA398231102
rs1197279311
107 D>Y No ClinGen
gnomAD
TCGA novel 108 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8378161
rs777414283
110 Y>C No ClinGen
ExAC
gnomAD
rs1012910851
CA398231062
113 L>V No ClinGen
gnomAD
CA8378160
rs367804571
115 Y>C No ClinGen
ESP
ExAC
gnomAD
CA398230513
rs1241114876
117 Y>D No ClinGen
gnomAD
TCGA novel 119 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398230470
rs1353122190
120 L>H No ClinGen
gnomAD
rs1307122954
CA398230437
122 C>* No ClinGen
gnomAD
CA287628552
rs974472050
125 I>V No ClinGen
TOPMed
rs767689816
CA8378143
130 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA398230304
rs1418676829
133 I>T No ClinGen
gnomAD
rs200086256
CA8378141
133 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771305741
CA8378140
135 S>C No ClinGen
ExAC
gnomAD
TCGA novel 136 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA287628530
rs536841147
141 M>I No ClinGen
gnomAD
rs1415240612
CA398230158
143 R>I No ClinGen
gnomAD
rs1415240612
CA398230161
143 R>K No ClinGen
gnomAD
rs758529502
CA287628528
145 K>R No ClinGen
Ensembl
CA8378137
rs370801214
147 R>C No ClinGen
ESP
ExAC
gnomAD
CA8378136
rs747029840
147 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA287628514
rs778544686
149 E>D No ClinGen
Ensembl
CA398230021
rs1488056541
154 I>V No ClinGen
gnomAD
CA398230002
rs1283983765
155 Y>C No ClinGen
gnomAD
rs1224910416
CA398229995
156 A>T No ClinGen
gnomAD
rs1311988004
CA398229985
157 I>V No ClinGen
TOPMed
gnomAD
rs778580289
CA8378132
162 Y>C No ClinGen
ExAC
gnomAD
CA398229903
rs1399028556
164 C>S No ClinGen
gnomAD
TCGA novel 166 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1376152892
CA398229861
167 Q>R No ClinGen
gnomAD
rs775459881
CA8378110
169 R>C No ClinGen
ExAC
gnomAD
COSM986347
rs1291237756
CA398228878
169 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA398228805
rs1403175415
174 I>T No ClinGen
gnomAD
CA8378109
rs771926092
174 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA8378108
rs745359924
177 T>M No ClinGen
ExAC
gnomAD
TCGA novel 181 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398228183
rs1482799004
182 A>S No ClinGen
gnomAD
rs1320802747
CA398228176
183 G>E No ClinGen
TOPMed
CA8378091
rs772012440
188 T>A No ClinGen
ExAC
gnomAD
CA398228141
rs1224769566
188 T>I No ClinGen
TOPMed
TCGA novel 191 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398228117
rs1240710504
191 V>G No ClinGen
gnomAD
rs1307836083
CA398228092
195 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1263575497
CA398228077
197 H>L No ClinGen
TOPMed
rs908266505
CA287609658
198 V>F No ClinGen
TOPMed
CA8378087
rs748797741
203 K>R No ClinGen
ExAC
gnomAD
rs1397033877
CA398228017
206 K>R No ClinGen
gnomAD
CA398228001
rs1301356268
208 H>R No ClinGen
gnomAD
CA8378085
rs769350540
211 P>S No ClinGen
ExAC
gnomAD
rs769485047
CA8378065
214 L>P No ClinGen
ExAC
gnomAD
CA8378064
rs747816782
216 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1216190856
CA398227851
216 R>W No ClinGen
gnomAD
rs1197465357
CA398227847
217 Q>E No ClinGen
gnomAD
CA398227839
rs1449371931
218 L>V No ClinGen
gnomAD
CA287603879
rs369676100
228 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8378062
rs369676100
228 F>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA287603870
rs1020898272
231 A>G No ClinGen
Ensembl
TCGA novel 231 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1317509310
CA398227721
235 K>N No ClinGen
TOPMed
gnomAD
rs1213042082
COSM1740388
CA398227691
239 S>L haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
gnomAD
CA8378051
rs766277962
247 R>Q No ClinGen
ExAC
gnomAD
rs762916231
CA8378050
257 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs762916231
CA398227264
257 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA398227226
rs1181079735
260 N>S No ClinGen
gnomAD
rs371439781
CA8378049
261 I>T No ClinGen
ESP
ExAC
gnomAD
rs1159021716
CA398227218
261 I>V No ClinGen
TOPMed
rs1380290780
CA398227092
267 E>D No ClinGen
gnomAD
CA398227083
rs1175970282
268 K>R No ClinGen
gnomAD
rs1567889710
CA398227072
269 S>C No ClinGen
Ensembl
rs727504231
CA235284
RCV000154186
VAR_078649
270 R>C probable disease-associated variant found in a patient with severe intellectual disease, microcephaly and feeding difficulties as well as cerebral atrophy [UniProt] No ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA287589098
rs866799072
275 A>T No ClinGen
Ensembl
rs751322243
CA8378033
276 K>I No ClinGen
ExAC
gnomAD
CA8378032
rs766222485
277 D>G No ClinGen
ExAC
gnomAD
TCGA novel 277 D>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM986344
rs1159891064
CA398226970
279 R>C Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA398226966
rs1187129910
279 R>L No ClinGen
gnomAD
rs765255203
CA8378029
280 T>I No ClinGen
ExAC
gnomAD
rs750265329
CA8378030
280 T>S No ClinGen
ExAC
gnomAD
CA8378028
rs761179915
282 H>Y No ClinGen
ExAC
gnomAD
CA398226927
rs1282122417
283 I>T No ClinGen
TOPMed
gnomAD
CA8378026
rs763624642
286 Q>H No ClinGen
ExAC
gnomAD
rs1302923021
CA398226847
291 A>T No ClinGen
TOPMed
TCGA novel 293 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760472918
CA8378025
295 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs752329586
CA8378006
297 S>F No ClinGen
ExAC
gnomAD
CA8378005
rs767309005
298 D>G No ClinGen
ExAC
gnomAD
rs1259384274
CA398045983
300 L>F No ClinGen
gnomAD
TCGA novel 301 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8378004
rs563876302
302 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs774823850
CA398045963
303 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA8378003
rs774823850
303 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA398045949
rs1417469983
305 N>S No ClinGen
TOPMed
gnomAD
rs1156873725
CA398045951
305 N>Y No ClinGen
TOPMed
rs1486076872
CA398045937
307 Y>N No ClinGen
gnomAD
rs1193057450
CA398045927
308 R>K No ClinGen
gnomAD
TCGA novel 310 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763582048
CA8378001
315 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA8378000
rs773607281
315 I>N No ClinGen
ExAC
gnomAD
rs769801603
CA8377999
COSM1709795
316 P>S Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA8377997
rs781347184
317 I>M No ClinGen
ExAC
gnomAD
rs748262393
CA8377998
317 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA8377996
rs768915962
318 P>L No ClinGen
ExAC
gnomAD
TCGA novel 318 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 321 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8377994
rs548860436
327 Q>K No ClinGen
1000Genomes
ExAC
gnomAD
CA8377993
rs757131711
329 T>A No ClinGen
ExAC
gnomAD
CA8377992
rs753749020
330 M>V No ClinGen
ExAC
gnomAD
rs374148374
CA8377991
333 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1461793207
CA398045628
335 I>M No ClinGen
gnomAD
TCGA novel 340 H>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs937050020
CA287617732
340 H>R No ClinGen
TOPMed
gnomAD
CA8377990
rs115599230
341 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777800734
CA8377971
346 M>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 351 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398045425
rs1380899293
360 S>F No ClinGen
gnomAD
TCGA novel 360 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1180968109
CA398045423
361 F>L No ClinGen
gnomAD
rs140485649
CA8377967
363 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751159310
CA8377966
365 R>K No ClinGen
ExAC
gnomAD
CA8377965
rs765979544
367 T>A No ClinGen
ExAC
gnomAD
rs765979544
CA398045378
367 T>S No ClinGen
ExAC
gnomAD
TCGA novel 369 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8377964
rs758741633
370 A>T No ClinGen
ExAC
rs750835582
CA8377963
372 M>I No ClinGen
ExAC
gnomAD
CA398045337
rs1287419696
373 P>S No ClinGen
gnomAD
rs1324380614
CA398045324
375 N>D No ClinGen
TOPMed
CA398045293
rs1291705207
378 A>T No ClinGen
gnomAD
CA8377947
rs757539505
378 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8377945
rs754472765
383 H>R No ClinGen
ExAC
gnomAD
rs1440296256
CA398045166
386 G>E No ClinGen
TOPMed
CA398045170
rs1392867812
386 G>R No ClinGen
gnomAD
rs779735469
CA8377943
390 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1048948128
CA287616204
394 R>G No ClinGen
Ensembl
rs758026785
CA8377942
394 R>Q No ClinGen
ExAC
gnomAD
CA8377941
rs750786311
397 L>V No ClinGen
ExAC
gnomAD
CA8377938
rs754273931
400 R>W No ClinGen
ExAC
gnomAD
rs1462037943
CA398045074
401 I>V No ClinGen
TOPMed
rs1468342462
CA398045053
404 G>S No ClinGen
gnomAD
TCGA novel 405 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398045046
rs1246697754
405 R>Q No ClinGen
TOPMed
CA398045010
rs1168519737
410 K>R No ClinGen
TOPMed
CA8377934
rs143297738
411 A>G No ClinGen
ESP
ExAC
gnomAD
TCGA novel 411 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA287616126
rs373921059
413 T>S No ClinGen
Ensembl
rs1430788690
CA398044949
417 A>T No ClinGen
TOPMed
rs1237126568
CA398044920
421 V>A No ClinGen
gnomAD
rs767551084
CA8377915
421 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA287615117
rs373000728
422 E>Q No ClinGen
ESP
TOPMed
TCGA novel 423 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766733329
CA8377912
424 L>V No ClinGen
ExAC
gnomAD
CA398044894
rs1442715896
425 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1334914750
CA398044869
429 Y>C No ClinGen
gnomAD
rs1334914750
CA398044870
429 Y>S No ClinGen
gnomAD
CA398044864
rs1326476998
430 E>K No ClinGen
gnomAD
CA8377911
rs761679522
431 R>W No ClinGen
ExAC
gnomAD
rs1172401222
CA398044836
434 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1597791542
CA398044814
437 V>G No ClinGen
Ensembl
rs1048485675
CA398044818
437 V>I No ClinGen
TOPMed
gnomAD
rs1048485675
CA287615094
437 V>L No ClinGen
TOPMed
gnomAD
CA398044810
rs1328780697
438 H>L No ClinGen
TOPMed
gnomAD
CA398044807
rs1470736566
438 H>Q No ClinGen
gnomAD
rs1597791529
CA398044811
438 H>Y No ClinGen
Ensembl
rs768634600
CA8377909
439 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA287615066
rs973097442
441 N>S No ClinGen
gnomAD
CA398044755
rs1210337835
446 R>K No ClinGen
TOPMed
gnomAD
CA398044736
rs1224229755
449 R>H No ClinGen
TOPMed
gnomAD
CA8377906
rs771506485
449 R>S No ClinGen
ExAC
gnomAD
CA398044727
rs1349713097
450 Q>H No ClinGen
gnomAD
rs778485072
CA8377904
455 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1355771698
CA398044666
460 I>V No ClinGen
gnomAD
CA398044113
rs1345183700
469 N>Y No ClinGen
gnomAD
rs772930535
CA8377884
474 L>V No ClinGen
ExAC
gnomAD
CA8377883
rs769983737
477 N>S No ClinGen
ExAC
gnomAD
rs1474314317
CA398043988
480 N>S No ClinGen
gnomAD
CA398043930
rs1187252272
488 N>S No ClinGen
TOPMed
gnomAD
TCGA novel 501 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA287612589
rs552872774
501 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8377882
rs552872774
501 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398043818
rs1192606000
503 G>V No ClinGen
TOPMed
rs781759339
CA8377881
505 E>G No ClinGen
ExAC
gnomAD
rs1260736372
CA398043810
505 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 508 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8377880
rs755583665
509 I>V No ClinGen
ExAC
gnomAD
CA398043771
rs1319646094
510 D>N Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA287612532
rs374910256
512 G>R No ClinGen
ESP
TOPMed
gnomAD
CA398043755
rs374910256
512 G>W No ClinGen
ESP
TOPMed
gnomAD
rs758522214
CA8377877
513 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs1395686492
CA398043739
515 L>M No ClinGen
TOPMed
gnomAD
CA287612518
rs993552177
516 Q>R No ClinGen
TOPMed
gnomAD
rs767406783
CA8377872
518 C>W No ClinGen
ExAC
gnomAD
CA8377871
rs759533465
519 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs765816989
CA8377869
520 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 526 A>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752480302
CA8377853
526 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 533 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 535 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 536 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 542 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1362973320
CA398043499
548 T>I No ClinGen
TOPMed
rs1401218186
CA398043486
550 V>A No ClinGen
TOPMed
rs1346490356
CA398043483
551 E>Q No ClinGen
gnomAD
TCGA novel 552 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8377848
rs762318775
554 V>I No ClinGen
ExAC
gnomAD
TCGA novel 555 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749991148
CA8377847
558 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA8377846
rs764794444
559 S>F No ClinGen
ExAC
gnomAD
CA8377845
rs761584370
561 S>F No ClinGen
ExAC
gnomAD
rs776437461
CA8377844
562 K>N No ClinGen
ExAC
gnomAD
CA398043408
rs1314985084
562 K>T No ClinGen
gnomAD
rs769079110
CA8377843
563 F>L No ClinGen
ExAC
rs551823391
CA8377842
564 Q>E No ClinGen
1000Genomes
ExAC
gnomAD
CA398043374
rs1455227893
567 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA398043294
rs1597765416
578 I>L No ClinGen
Ensembl
rs1275700246
CA398043270
581 A>S No ClinGen
TOPMed
rs768993165
CA287607867
587 K>R No ClinGen
TOPMed
rs768993165
CA287607870
587 K>T No ClinGen
TOPMed
TCGA novel 590 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398043187
rs1428575582
591 W>* No ClinGen
gnomAD
rs761102619
CA8377822
593 M>V No ClinGen
ExAC
gnomAD
rs776035070
CA8377821
597 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1205022141
CA398043121
597 D>Y No ClinGen
gnomAD
CA8377819
rs760143127
602 N>S No ClinGen
ExAC
gnomAD
rs770975976
CA8377817
603 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs749401418
CA8377816
605 T>A No ClinGen
ExAC
gnomAD
rs1294810414
CA398043028
606 L>F No ClinGen
gnomAD
TCGA novel 607 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8377814
rs746567330
612 D>G No ClinGen
ExAC
gnomAD
TCGA novel 614 F>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA287607821
rs916948321
616 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1250208352
CA398042892
618 L>V No ClinGen
TOPMed
TCGA novel 624 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8377794
rs147719939
624 R>G No ClinGen
ESP
ExAC
TOPMed
CA398041538
COSM1387668
rs1470703280
624 R>H Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs745675609
CA8377792
626 V>M No ClinGen
ExAC
gnomAD
CA398041487
rs1486706157
632 T>S No ClinGen
gnomAD
CA287598566
rs1036602523
634 M>T No ClinGen
TOPMed
CA398041477
rs1210077787
634 M>V No ClinGen
gnomAD
COSM437878
CA8377791
rs778892637
636 E>K Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1286251207
CA398041431
641 S>T No ClinGen
gnomAD
CA287598557
rs1022810378
642 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1234694305
CA398041354
651 R>H No ClinGen
gnomAD
rs755696872
CA8377787
653 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA8377788
rs777479790
653 V>I No ClinGen
ExAC
gnomAD
rs752324451
CA8377786
654 G>W No ClinGen
ExAC
gnomAD
CA8377785
rs373512044
655 Q>L No ClinGen
ESP
ExAC
gnomAD
CA8377782
rs537123965
665 M>T No ClinGen
1000Genomes
ExAC
gnomAD
rs763509845
CA8377781
667 T>A No ClinGen
ExAC
rs1476269473
CA398041253
667 T>S No ClinGen
gnomAD
rs773722498
CA8377780
669 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398041186
rs1472891832
674 N>I No ClinGen
gnomAD
CA398041154
rs1471840391
676 V>G No ClinGen
gnomAD
rs761831948
CA8377778
COSM180054
677 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 677 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1446238238
CA398041056
684 E>K No ClinGen
gnomAD
rs1265945753
CA398041035
685 K>Q No ClinGen
gnomAD
rs1473694923
CA398041019
686 R>K No ClinGen
TOPMed
rs868536094
CA287598382
687 A>S No ClinGen
TOPMed
rs868536094
CA398040980
687 A>T No ClinGen
TOPMed
CA287598378
rs994943895
688 G>R No ClinGen
gnomAD
TCGA novel 689 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760860714
CA8377757
690 L>S No ClinGen
ExAC
gnomAD
rs1360712620
CA398040926
691 D>Y No ClinGen
TOPMed
CA398040893
rs1372136199
693 H>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA287598372
rs912752278
698 Q>E No ClinGen
TOPMed
CA8377756
rs775863860
700 R>C No ClinGen
ExAC
gnomAD
CA8377755
rs770780343
700 R>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 704 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1183320550
CA398040758
705 L>Q No ClinGen
TOPMed
CA398040713
rs1429161578
709 R>* No ClinGen
gnomAD
rs769665917
CA8377752
710 I>V No ClinGen
ExAC
gnomAD
TCGA novel 712 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8377751
rs747662974
718 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1166703733
CA398040641
720 V>I No ClinGen
TOPMed
CA398040642
rs1166703733
720 V>L No ClinGen
TOPMed
TCGA novel 721 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398040634
rs1410082484
721 F>V No ClinGen
TOPMed
TCGA novel 726 Q>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 730 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8377726
rs779311361
745 Q>E No ClinGen
ExAC
gnomAD
CA398040350
rs1415457290
748 E>G No ClinGen
gnomAD
CA8377724
rs749686669
749 R>Q No ClinGen
ExAC
gnomAD
CA8377707
rs775050229
751 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA287597675
rs775050229
751 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA8377706
rs771704378
752 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA287597672
rs1007017744
752 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 756 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA287597666
rs1051349641
756 L>S No ClinGen
Ensembl
rs1597721005
CA398040260
760 L>F No ClinGen
Ensembl
rs1319722167
CA398040197
769 F>V No ClinGen
gnomAD
rs1431116477
CA398040184
770 F>L No ClinGen
TOPMed
rs749683184
CA8377703
777 H>N No ClinGen
ExAC
gnomAD
CA8377702
rs749683184
777 H>Y No ClinGen
ExAC
gnomAD
TCGA novel 783 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398040068
rs1165145854
787 T>I No ClinGen
gnomAD
TCGA novel 787 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs878973970
CA287597645
788 D>N No ClinGen
Ensembl
CA8377699
rs748232776
789 I>T No ClinGen
ExAC
gnomAD
CA398040053
rs1186051717
789 I>V No ClinGen
gnomAD
CA8377697
COSM75511
rs755114317
796 V>I ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747162974
CA8377678
806 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA8377677
rs780110828
807 A>D No ClinGen
ExAC
gnomAD
rs758716832
CA8377676
811 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 815 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1431391413
CA398039208
823 C>S No ClinGen
TOPMed
CA8377674
rs777490499
825 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1358481726
CA398039191
825 A>V No ClinGen
TOPMed
rs1597705814
CA398039140
833 Q>K No ClinGen
Ensembl
CA398039113
rs1173588107
836 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 837 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398039090
rs1294940175
839 T>I No ClinGen
TOPMed
rs1294940175
CA398039091
839 T>R No ClinGen
TOPMed
CA398039064
rs1597705087
841 V>G No ClinGen
Ensembl
rs762239237
CA8377638
843 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1323036834
CA398039030
847 V>M No ClinGen
gnomAD
CA8377637
rs777205800
849 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM986336
CA287590568
rs147765876
849 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
gnomAD
rs1157160371
CA398038993
852 E>D No ClinGen
TOPMed
gnomAD
CA398038970
rs1407172761
855 Q>H No ClinGen
gnomAD
TCGA novel 861 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1243767553
CA398038908
864 V>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs149675557
CA398038910
864 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149675557
CA8377635
864 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 866 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772155329
CA8377633
867 K>R No ClinGen
ExAC
gnomAD
rs745952785
CA8377632
869 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs150950768
CA8377630
871 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs975055076
CA287590538
873 G>R No ClinGen
TOPMed
gnomAD
rs1354922351
CA398038831
876 E>K No ClinGen
TOPMed
gnomAD
RCV000154185
CA235282
rs727504230
877 E>* No ClinGen
ClinVar
Ensembl
dbSNP
CA398038806
rs1300401757
879 E>Q No ClinGen
gnomAD
rs375420253
CA287590526
880 R>Q No ClinGen
ESP
TOPMed
gnomAD
CA398038788
rs1364855119
881 K>N No ClinGen
gnomAD
CA398038734
rs1252469872
887 E>V No ClinGen
TOPMed
CA398038715
rs1429101111
890 N>H No ClinGen
TOPMed
gnomAD
CA398038707
rs1368617759
891 I>V No ClinGen
gnomAD
CA8377611
rs774477942
899 E>A No ClinGen
ExAC
gnomAD
rs749452689
CA8377609
903 F>V No ClinGen
ExAC
gnomAD
VAR_078650 908 E>del probable disease-associated variant found in a patient with intrauterine growth restriction, microcephaly, developmental delay, failure to thrive, congenital bilateral hip dysplasia, cerebral and cerebellar atrophy, hydrocephalus and congenital diaphragmatic hernia [UniProt] No UniProt
CA8377608
rs773426257
915 A>S No ClinGen
ExAC
gnomAD
TCGA novel 920 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 924 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs142565684
CA287589948
925 H>R No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 925 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1186042642
CA398038370
926 D>E No ClinGen
gnomAD
rs768456879
CA8377607
928 E>* No ClinGen
ExAC
gnomAD
CA287589924
rs1011631397
930 R>K No ClinGen
Ensembl
CA8377606
rs746828333
931 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs746828333
CA398038315
931 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs780011377
CA8377605
936 E>K No ClinGen
ExAC
TCGA novel 937 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758335494
CA8377603
937 R>K No ClinGen
ExAC
CA8377601
rs778511117
941 L>I No ClinGen
ExAC
gnomAD
CA398038147
rs1352416121
943 N>K No ClinGen
gnomAD
rs756835134
CA8377600
943 N>S No ClinGen
ExAC
gnomAD
CA398038146
rs1289126797
944 E>K No ClinGen
gnomAD
CA398038129
rs1188195511
946 K>Q No ClinGen
TOPMed
CA8377599
rs753504456
946 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 948 M>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398038063
rs1597701812
950 A>V No ClinGen
Ensembl
CA8377598
rs763680043
951 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1031985824
CA287588178
954 D>E No ClinGen
gnomAD
rs755342253
CA8377572
958 Q>R No ClinGen
ExAC
gnomAD
rs146254620
CA8377570
961 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs980413181
CA287588164
962 E>G No ClinGen
Ensembl
CA398037790
rs1348631399
964 G>E No ClinGen
gnomAD
CA8377569
rs141845979
965 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs750534832
CA8377568
966 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs368549821
CA8377567
968 K>N No ClinGen
ESP
ExAC
gnomAD
CA398037769
rs1247687219
968 K>T No ClinGen
Ensembl
CA398037726
rs1597690123
974 V>G No ClinGen
Ensembl
CA8377564
rs771949507
976 A>E No ClinGen
ExAC
gnomAD
rs775041727
CA287588092
979 K>E No ClinGen
Ensembl
rs1293654640
CA398037687
980 I>M No ClinGen
TOPMed
gnomAD
CA398037674
rs1456938968
982 K>R No ClinGen
gnomAD
rs1024716976
CA287588081
983 M>T No ClinGen
Ensembl
CA398037669
rs1162170162
983 M>V No ClinGen
TOPMed
gnomAD
CA8377562
rs774403852
984 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8377561
rs190678148
986 E>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398037640
rs1328967664
COSM289466
987 I>F large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA8377560
rs748806975
987 I>M No ClinGen
ExAC
gnomAD
TCGA novel 988 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398037617
rs1269712589
991 E>K No ClinGen
gnomAD
rs1488175717
CA398037552
999 K>R No ClinGen
gnomAD
rs1193885887
CA398037417
1003 L>F No ClinGen
gnomAD
rs769148087
CA8377539
1004 M>L No ClinGen
ExAC
gnomAD
rs199871692
CA8377538
1004 M>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398037413
rs769148087
1004 M>V No ClinGen
ExAC
gnomAD
CA8377536
rs139985087
1007 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA287587283
rs139985087
1007 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398037387
rs1421457706
1007 R>L No ClinGen
TOPMed
CA8377535
rs747360393
1008 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs780518542
CA287587270
1009 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs144668386
CA287587242
1010 E>D No ClinGen
ESP
TOPMed
CA287587252
rs1023382114
1010 E>G No ClinGen
TOPMed
gnomAD
CA8377534
rs780337717
1011 C>Y No ClinGen
ExAC
gnomAD
rs1013280939
CA287587233
1012 S>C No ClinGen
TOPMed
rs370387006
CA8377531
1015 L>Q No ClinGen
ESP
ExAC
gnomAD
TCGA novel 1018 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8377530
rs757258659
1019 E>G No ClinGen
ExAC
gnomAD
TCGA novel 1020 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1597685470
CA398037297
1021 K>T No ClinGen
Ensembl
rs756466934
CA8377527
1022 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA287587204
rs867571967
1024 N>T No ClinGen
TOPMed
gnomAD
rs930302848
CA287587167
1025 L>M No ClinGen
Ensembl
CA8377526
rs752985391
1026 A>V No ClinGen
ExAC
gnomAD
CA398037204
rs1199649392
1034 V>A No ClinGen
gnomAD
rs1213066297
CA398037200
1035 M>K No ClinGen
TOPMed
rs765110163
CA8377503
1042 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8377502
rs761751766
1042 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1417074718
CA398036792
1043 L>S No ClinGen
TOPMed
gnomAD
TCGA novel 1044 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8377501
rs753778213
1049 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA287586178
rs199831586
1049 T>S No ClinGen
Ensembl
rs1228364079
CA398036741
1050 R>H No ClinGen
TOPMed
rs1338543257
CA398036701
1056 A>T No ClinGen
Ensembl
rs1316376025
CA398036693
1057 K>* No ClinGen
gnomAD
CA8377499
rs760197900
1058 R>K No ClinGen
ExAC
gnomAD
CA8377498
rs775099032
1059 K>N No ClinGen
ExAC
rs1414484521
CA398036678
1059 K>R No ClinGen
gnomAD
rs1567814761
CA398036668
1061 D>N No ClinGen
Ensembl
CA8377494
rs201075759
1064 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA287586139
rs1007967737
1071 I>T No ClinGen
gnomAD
TCGA novel 1072 A>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371831055
CA8377493
1072 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8377492
rs371831055
1072 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1030789829
CA287586130
1074 L>V No ClinGen
Ensembl
rs776725154
CA8377491
1076 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs150206681
CA8377490
1076 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755294912
CA8377488
1078 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA8377487
rs751742846
1088 K>E No ClinGen
ExAC
gnomAD
COSM2153679
rs753724964
CA8377484
1095 A>T Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA8377483
rs764065210
1095 A>V No ClinGen
ExAC
gnomAD
rs777035724
CA8377452
1101 D>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1102 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1005211624
CA287585298
1103 T>A No ClinGen
Ensembl
CA8377451
rs768730655
1105 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA398036337
rs1567812159
1108 N>S No ClinGen
Ensembl
CA8377450
rs747106071
1112 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA398036304
rs1288911712
1113 V>A No ClinGen
gnomAD
CA398036301
rs1390814552
1114 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1194412345
CA398036299
1114 R>Q No ClinGen
TOPMed
rs775747892
CA8377449
1118 A>S No ClinGen
ExAC
gnomAD
rs561418474
CA8377448
1120 I>N No ClinGen
1000Genomes
ExAC
gnomAD
rs749065785
CA8377447
1127 F>C No ClinGen
ExAC
gnomAD
rs777490524
CA8377446
1129 S>A No ClinGen
ExAC
gnomAD
rs572241754
COSM1709794
CA8377443
1130 E>K skin [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs372084317
CA398036178
1132 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372084317
CA8377441
1132 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372084317
CA8377442
1132 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8377439
rs758183447
1135 N>S No ClinGen
ExAC
gnomAD
CA287585220
rs945870278
1142 R>K No ClinGen
TOPMed
gnomAD
rs1466417623
CA398036092
1142 R>S No ClinGen
gnomAD
CA8377435
rs777171855
1145 S>G No ClinGen
ExAC
gnomAD
CA398036060
rs1315097306
1145 S>N No ClinGen
gnomAD
CA287585201
rs772010695
1145 S>R No ClinGen
Ensembl
rs764545584
CA8377434
1158 T>M No ClinGen
ExAC
gnomAD
rs1381696816
CA398035889
1161 T>S No ClinGen
gnomAD
CA287580148
rs138474891
1178 E>Q No ClinGen
ESP
TOPMed
CA287580144
rs866401116
1181 K>E No ClinGen
Ensembl
rs1031535575
CA287580141
1182 A>S No ClinGen
Ensembl
CA398035610
rs1332447033
1184 E>V No ClinGen
gnomAD
CA8377400
rs756915293
1185 E>A No ClinGen
ExAC
gnomAD
rs777929253
CA8377398
1190 H>L No ClinGen
ExAC
gnomAD
rs753538380
CA8377399
1190 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA398035556
rs1457528423
1192 A>T No ClinGen
TOPMed
rs753158660
CA8377396
1197 M>I No ClinGen
ExAC
gnomAD
rs1397576439
CA398035518
1197 M>V No ClinGen
gnomAD
CA8377394
rs376424239
1202 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398035475
rs1470408788
1203 T>A No ClinGen
TOPMed
rs1480128806
CA398035463
1205 L>V No ClinGen
gnomAD
rs751706916
CA8377393
1206 E>K No ClinGen
ExAC
gnomAD
CA287580096
rs528675345
1207 E>D No ClinGen
1000Genomes
rs1415649420
CA398035435
1209 S>* No ClinGen
TOPMed
rs1249642497
CA398035423
1211 Q>K No ClinGen
gnomAD
CA398035386
rs1475887003
1216 K>R No ClinGen
TOPMed
CA8377391
rs201909688
1217 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA398035031
rs1320409609
1220 A>G No ClinGen
gnomAD
rs1450464613
CA398034983
1224 K>N No ClinGen
TOPMed
rs1193474487
CA398034967
1225 N>K No ClinGen
TOPMed
TCGA novel 1226 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8377368
rs141842778
1231 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1385703805
CA398034888
1232 D>E No ClinGen
gnomAD
rs1473657751
CA398034892
1232 D>G No ClinGen
gnomAD
rs543280206
CA8377366
1237 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA8377365
rs770300900
1237 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1389731379
CA398034842
1238 C>S No ClinGen
TOPMed
CA398034828
rs1440456870
1240 V>M No ClinGen
TOPMed
rs1289256872
CA398034820
1241 K>R No ClinGen
gnomAD
rs1445869501
CA398034816
1242 V>F No ClinGen
gnomAD
rs781478006
CA8377360
1246 V>G No ClinGen
ExAC
gnomAD
rs369244333
CA287579274
1249 E>G No ClinGen
ESP
rs1293035244
CA398034759
1250 S>C No ClinGen
gnomAD
CA398034757
rs1354598775
1251 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs576157632
CA8377358
1252 H>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs373423150
CA398034699
1258 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs199724654
CA8377355
1259 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM986331
CA8377354
rs765363104
1259 A>V endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1366087342
CA398034684
1261 V>I No ClinGen
gnomAD
rs1211454920
CA398034678
1262 Q>E No ClinGen
TOPMed
CA8377351
rs147356915
1263 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA398034650
rs1186689593
1266 A>T No ClinGen
TOPMed
gnomAD
CA8377349
rs751431868
1268 V>A No ClinGen
ExAC
gnomAD
rs1474799590
CA398034633
1268 V>L No ClinGen
gnomAD
rs1293081616
CA398034608
1272 D>N No ClinGen
gnomAD
CA398034599
rs1222240418
1273 R>M No ClinGen
gnomAD
rs1357664813
CA398034596
1273 R>S No ClinGen
gnomAD
rs1215444607
CA398034557
1279 A>V No ClinGen
TOPMed
gnomAD
rs1324176777
CA398034542
1281 K>N No ClinGen
TOPMed
CA398034540
rs1268538795
1282 A>T No ClinGen
TOPMed
gnomAD
CA8377344
rs776151094
1286 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs1461939532
CA398033769
1288 E>D No ClinGen
gnomAD
CA398033739
rs1240169980
1290 D>E No ClinGen
TOPMed
rs775866479
CA8377323
1293 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs772324476
CA8377322
1294 T>S No ClinGen
ExAC
gnomAD
TCGA novel 1296 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746342485
CA8377321
1299 A>T No ClinGen
ExAC
gnomAD
TCGA novel 1300 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398033592
rs1340815388
1301 K>E No ClinGen
TOPMed
gnomAD
rs928927998
CA287577171
1301 K>N No ClinGen
Ensembl
CA8377320
rs779583183
1301 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA398033574
rs1489048969
1302 K>T No ClinGen
TOPMed
rs920362698
CA287577144
1303 G>S No ClinGen
gnomAD
CA398033554
rs1198412081
1303 G>V No ClinGen
TOPMed
rs199778027
CA8377318
1304 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1347487041
CA398033477
1309 D>G No ClinGen
TOPMed
gnomAD
CA8377317
rs778141107
1310 A>T No ClinGen
ExAC
gnomAD
CA398033456
rs1432747048
1311 A>S No ClinGen
gnomAD
CA8377316
rs756466850
1312 S>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1317 L>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773371592
CA8377293
1323 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA398033178
rs1597637708
1323 L>R No ClinGen
Ensembl
rs769768412
CA8377292
1329 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM245851
CA287576544
rs1036463185
1329 R>H prostate [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1401594440
CA398033106
1334 L>Q No ClinGen
TOPMed
rs781292723
CA8377290
1337 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8377291
rs748362203
1337 R>W No ClinGen
ExAC
gnomAD
rs745728190
CA8377288
1339 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8377289
rs375529148
1339 R>W No ClinGen
ESP
ExAC
gnomAD
CA398033045
rs1294295962
1344 E>K No ClinGen
gnomAD
TCGA novel 1345 K>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757128151
CA8377286
COSM437875
1345 K>N breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs753779988
CA8377285
1348 L>F No ClinGen
ExAC
gnomAD
rs202145391
CA287576515
1348 L>P No ClinGen
1000Genomes
CA8377284
rs142585848
1349 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA287576511
rs201857459
1349 Q>R No ClinGen
1000Genomes
COSM1303562
CA8377283
rs755598671
1353 E>Q urinary_tract prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs767113622
CA8377282
1355 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs767113622
CA8377281
1355 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA398032957
rs923511196
1356 E>G No ClinGen
TOPMed
gnomAD
CA8377280
rs759942990
1356 E>K No ClinGen
ExAC
gnomAD
CA287576493
rs923511196
1356 E>V No ClinGen
TOPMed
gnomAD
rs766867591
CA8377278
1357 E>A No ClinGen
ExAC
gnomAD
CA8377279
rs774916781
1357 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs763487706
CA8377275
1362 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA398032896
rs1199986986
1365 Q>* No ClinGen
gnomAD
rs773888464
CA8377274
1365 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs769870246
CA8377273
1366 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA8377271
rs149021341
1368 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398032857
rs1216285065
1372 Q>K No ClinGen
gnomAD
CA8377240
rs779902696
1373 L>F No ClinGen
ExAC
gnomAD
TCGA novel 1374 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1567791250
CA398032422
1374 A>V No ClinGen
Ensembl
rs144905748
CA8377239
1376 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs144905748
CA398032397
1376 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1376515486
CA398032330
1380 V>L No ClinGen
TOPMed
CA8377236
rs754399253
1381 D>A No ClinGen
ExAC
gnomAD
CA8377235
rs754399253
1381 D>G No ClinGen
ExAC
gnomAD
rs774645484
CA8377233
1383 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1384 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752486595
CA287575955
1385 G>R No ClinGen
TOPMed
CA8377230
rs762725776
1387 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA8377231
rs772344466
1387 I>V No ClinGen
ExAC
gnomAD
CA8377228
rs769639893
1388 E>* No ClinGen
ExAC
gnomAD
CA398032209
rs1238399758
1391 E>K No ClinGen
TOPMed
gnomAD
CA8377226
rs781212675
1393 A>D No ClinGen
ExAC
gnomAD
rs1315945754
CA398032189
1393 A>T No ClinGen
gnomAD
rs746558987
CA8377224
1394 K>R No ClinGen
ExAC
gnomAD
rs199854858
CA8377223
1396 K>Q No ClinGen
ExAC
gnomAD
TCGA novel 1396 K>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8377222
rs758064899
1397 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA8377221
rs201117056
1401 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779106809
CA8377220
1401 A>V No ClinGen
ExAC
gnomAD
rs1243412506
CA398032041
1402 E>Q No ClinGen
gnomAD
rs764621777
CA8377217
1407 R>C No ClinGen
ExAC
gnomAD
CA8377216
rs536430361
1407 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs926955936
CA287575853
1414 A>P No ClinGen
Ensembl
rs1354474534
CA398031657
1414 A>V No ClinGen
gnomAD
rs1406560104
CA398031528
1421 T>S No ClinGen
gnomAD
rs372919713
CA8377209
1422 K>R No ClinGen
ESP
ExAC
gnomAD
CA287575840
rs79482423
1423 N>T No ClinGen
Ensembl
CA398031475
rs1344006495
1424 R>C No ClinGen
TOPMed
gnomAD
CA8377208
rs768782605
1424 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA398031316
rs1474770192
1433 T>A No ClinGen
gnomAD
CA8377203
rs539038765
1433 T>M Variant assessed as Somatic; 4.633e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA398031266
rs1270107270
COSM437874
1435 D>N Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA398031186
rs1276043064
1439 Q>L No ClinGen
gnomAD
rs767545696
CA8377197
1440 R>C Variant assessed as Somatic; 4.634e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398031177
rs1317314259
1440 R>H No ClinGen
TOPMed
gnomAD
CA8377196
rs146718747
1441 Q>H No ClinGen
ESP
ExAC
rs751712427
CA8377195
1442 V>I No ClinGen
ExAC
gnomAD
CA287575782
rs755141861
1443 A>T No ClinGen
gnomAD
rs143410922
CA8377192
1449 K>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8377191
rs763982557
1449 K>T No ClinGen
ExAC
gnomAD
rs1329030410
CA398030942
1451 K>R No ClinGen
TOPMed
gnomAD
CA8377190
rs760646573
1452 K>* No ClinGen
ExAC
gnomAD
rs1597632055
CA398030662
1458 A>G No ClinGen
Ensembl
CA8377160
rs748556747
1458 A>T No ClinGen
ExAC
gnomAD
rs781664456
CA8377159
1463 I>V No ClinGen
ExAC
gnomAD
rs769266230
CA8377158
1466 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs769266230
CA398030490
1466 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA398030484
rs1316635911
1466 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA398030477
rs1452747224
1467 Y>C No ClinGen
gnomAD
rs780139174
CA8377156
1469 E>K No ClinGen
ExAC
gnomAD
rs780139174
CA398030439
1469 E>Q No ClinGen
ExAC
gnomAD
rs758425968
CA8377155
1470 E>Q No ClinGen
ExAC
gnomAD
CA8377152
rs755969165
1471 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8377153
rs779314247
1471 R>W No ClinGen
ExAC
gnomAD
CA8377151
rs752597134
1473 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA287575521
rs988699769
1473 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA398030296
rs1255634637
1475 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs759448954
CA8377149
1480 E>K No ClinGen
ExAC
gnomAD
CA8377148
rs751484817
1481 K>R No ClinGen
ExAC
gnomAD
rs1293659806
CA398030169
1482 E>K No ClinGen
gnomAD
rs1312441337
CA398030142
1483 T>S No ClinGen
TOPMed
rs1234383291
CA398030113
1485 A>V No ClinGen
TOPMed
CA8377146
rs762499918
1488 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8377144
rs572513630
1490 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8377145
rs572513630
1490 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA287575499
rs202170785
1490 R>W No ClinGen
1000Genomes
TOPMed
gnomAD
CA398030040
rs1434028441
1491 A>G No ClinGen
TOPMed
CA398030035
rs1305332103
1492 L>V No ClinGen
gnomAD
rs531817254
CA287575487
1493 E>D No ClinGen
gnomAD
CA287575488
rs778793221
1493 E>K No ClinGen
TOPMed
gnomAD
CA398029986
rs1455154015
COSM986329
1495 A>V endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
CA8377141
rs768931248
1500 E>K No ClinGen
ExAC
gnomAD
rs1312579021
CA398029846
1502 F>L No ClinGen
gnomAD
CA8377140
rs747497663
1504 R>S No ClinGen
ExAC
gnomAD
CA398029819
rs1192929953
1504 R>T No ClinGen
gnomAD
CA398029782
rs1270830907
1506 N>K No ClinGen
gnomAD
CA8377138
rs150581312
1510 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8377136
rs779263369
1511 A>V No ClinGen
ExAC
gnomAD
CA398029665
rs1277001302
1513 M>T No ClinGen
gnomAD
rs749523646
CA8377134
1515 D>V No ClinGen
ExAC
gnomAD
rs757494416
CA8377135
1515 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA8377133
rs781001883
1517 M>T No ClinGen
ExAC
gnomAD
CA398029509
rs1390297756
1520 K>R No ClinGen
gnomAD
rs374580626 1526 N>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA398028805
rs1344887929
1527 V>I No ClinGen
gnomAD
CA398028776
COSM1679557
rs1311552961
1529 E>K large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1354727832
CA398028745
1532 K>N No ClinGen
gnomAD
rs1413771243
CA398028732
1534 K>R No ClinGen
TOPMed
CA8377098
rs762983384
1535 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8377099
rs771115232
1535 R>W No ClinGen
ExAC
gnomAD
CA8377097
rs773480638
1536 A>S No ClinGen
ExAC
gnomAD
rs534582613
CA287574675
1539 Q>R No ClinGen
1000Genomes
gnomAD
TCGA novel 1540 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8377094
rs200997387
1541 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8377092
rs745779639
1542 E>A No ClinGen
ExAC
gnomAD
rs756783316
CA8377090
1544 M>I No ClinGen
ExAC
gnomAD
rs1597625917
CA398028605
1545 R>K No ClinGen
Ensembl
rs1296462854
CA398028550
1549 E>G No ClinGen
TOPMed
rs753343720
CA8377089
1550 E>K No ClinGen
ExAC
gnomAD
rs1915597292
RCV001092410
1551 L>P No ClinVar
dbSNP
rs755655536
CA8377087
1554 E>K No ClinGen
ExAC
gnomAD
rs1035518723
CA287574662
1555 L>F No ClinGen
TOPMed
gnomAD
rs533566907
CA8377084
COSM1159811
1558 T>M haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA398028398
rs1238331221
1561 A>T No ClinGen
gnomAD
CA8377082
rs767059736
1562 K>R No ClinGen
ExAC
gnomAD
TCGA novel 1563 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398028362
rs1322725249
1564 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8377081
rs763076162
1564 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs369578069
CA8377080
1565 L>Q No ClinGen
ESP
ExAC
gnomAD
CA398028302
rs1400523426
1568 N>S No ClinGen
gnomAD
TCGA novel 1569 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1359740606
CA398028293
1569 M>L No ClinGen
gnomAD
rs776863710
CA8377077
1572 M>R No ClinGen
ExAC
TOPMed
gnomAD
CA8377075
rs745726185
COSM1189403
1574 A>G lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1373497700
CA398028218
1574 A>T No ClinGen
TOPMed
rs745726185
CA8377076
1574 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1415634147
CA398028189
1576 F>I No ClinGen
gnomAD
CA8377072
rs749253573
1576 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA287574639
rs979597530
1577 E>K No ClinGen
gnomAD
rs144259360
CA8377070
1582 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs967782057
CA287574635
1583 R>K No ClinGen
Ensembl
CA8377069
rs752376659
1587 N>K No ClinGen
ExAC
gnomAD
CA398028076
rs1214872700
1589 E>D No ClinGen
gnomAD
CA398028067
rs1386009540
1591 K>Q No ClinGen
TOPMed
rs1290808509
CA398028057
1592 R>Q No ClinGen
gnomAD
rs1453559044
CA398028058
1592 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA398028053
rs1209321079
1593 L>V No ClinGen
gnomAD
rs916453318
CA287574630
1595 I>M No ClinGen
gnomAD
CA398028033
rs1219219605
1596 K>R No ClinGen
gnomAD
CA8377035
rs775710600
1599 R>Q No ClinGen
ExAC
gnomAD
CA8377036
rs760846004
COSM180048
1599 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1378957188
CA398027999
1600 E>K No ClinGen
TOPMed
CA398027991
rs1382416923
1601 L>F No ClinGen
gnomAD
rs1439311891
CA398027985
1602 E>K No ClinGen
gnomAD
CA8377033
rs762847560
1603 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8377032
rs773020148
1604 E>G No ClinGen
ExAC
gnomAD
rs1418472070
CA398027972
1604 E>K No ClinGen
TOPMed
rs748110206
CA8377030
1608 E>D No ClinGen
ExAC
gnomAD
CA398027930
rs1567780808
1610 K>Q No ClinGen
Ensembl
rs757550834
CA287573980
1611 Q>L No ClinGen
Ensembl
RCV001311866
CA8377028
rs768317136
1612 R>Q No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
COSM180047
rs776217752
CA8377029
1612 R>W Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA8377027
rs746613898
1613 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398027903
rs1437448775
1614 L>P No ClinGen
TOPMed
rs758682741
CA8377025
1615 A>D No ClinGen
ExAC
CA287573972
rs758682741
1615 A>G No ClinGen
ExAC
rs1308330990
CA398027901
1615 A>T No ClinGen
TOPMed
rs1228358584
CA398027889
1617 A>S No ClinGen
gnomAD
rs1380537480
CA398027872
1619 K>N No ClinGen
TOPMed
gnomAD
CA8377023
rs751702534
1621 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA398027860
rs1242283849
1621 K>T No ClinGen
TOPMed
CA287573968
rs200683624
1622 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8377022
rs200683624
1622 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398027844
rs1362919918
1623 E>V No ClinGen
gnomAD
rs757690558
CA8377021
1624 I>T No ClinGen
ExAC
gnomAD
rs1299151093
CA398027840
1624 I>V No ClinGen
TOPMed
gnomAD
rs77768450
CA8377019
COSM180046
1630 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs553551448
CA8377018
1631 A>D No ClinGen
1000Genomes
ExAC
gnomAD
CA8377016
rs767849368
1632 Q>H No ClinGen
ExAC
gnomAD
CA398027769
rs761805974
1634 E>D No ClinGen
ExAC
gnomAD
CA8377013
rs184124261
1634 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8377011
rs776737190
1636 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA8377010
rs778316906
1636 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA287573954
rs913090654
1638 K>N No ClinGen
Ensembl
CA398027742
rs1221681626
1639 A>T No ClinGen
gnomAD
CA8377009
rs760305178
1639 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8377008
rs201999754
1640 R>Q No ClinGen
ExAC
gnomAD
CA8377007
rs771695408
1642 E>K No ClinGen
ExAC
gnomAD
rs552031621
CA8377006
1648 R>C No ClinGen
ExAC
gnomAD
CA398027668
rs1399740230
1650 L>F No ClinGen
gnomAD
CA398027667
rs1381409331
1650 L>H No ClinGen
TOPMed
rs1286609111
CA398043138
1653 Q>* No ClinGen
TOPMed
rs915958313
CA287625048
1654 M>I No ClinGen
TOPMed
rs1229727962
CA398043117
1654 M>K No ClinGen
TOPMed
gnomAD
rs544758229
CA287625049
1654 M>V No ClinGen
Ensembl
CA8376981
rs200040584
1659 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA287625044
rs143184061
1659 R>H No ClinGen
ESP
TOPMed
gnomAD
CA398043014
rs143184061
1659 R>L No ClinGen
ESP
TOPMed
gnomAD
rs1479988689
CA398042979
1661 L>F No ClinGen
TOPMed
TCGA novel 1662 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8376980
rs373565183
1663 E>A No ClinGen
ESP
ExAC
gnomAD
rs1202606390
CA398042957
1663 E>K No ClinGen
TOPMed
CA398042930
rs1253602034
1664 A>V No ClinGen
TOPMed
CA8376979
COSM1216121
rs770228753
1665 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs748608649
CA8376978
1665 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA398042898
rs1258160779
1667 S>T No ClinGen
gnomAD
CA8376976
rs755038281
1668 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs894546500
CA287625035
1669 D>E No ClinGen
Ensembl
CA398042859
rs1242574514
1669 D>G No ClinGen
TOPMed
gnomAD
rs747234445
CA8376975
1670 E>G No ClinGen
ExAC
gnomAD
rs780467361
CA8376974
1671 I>F No ClinGen
ExAC
gnomAD
CA398042822
rs1350542135
1672 F>S No ClinGen
TOPMed
rs1036161314
CA287625014
1672 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs377715911
CA8376972
1677 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA287625007
rs370034938
1678 S>N No ClinGen
TOPMed
gnomAD
CA398042734
rs1392894314
1684 S>N No ClinGen
gnomAD
TCGA novel 1685 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs199593892
CA287625003
1688 E>G No ClinGen
1000Genomes
gnomAD
rs1410645135
CA398042691
1690 L>R No ClinGen
TOPMed
rs1283407310
CA398042689
1691 Q>E No ClinGen
TOPMed
rs1436611683
CA398042676
1692 L>F No ClinGen
gnomAD
CA398042641
rs1597597161
1695 E>D No ClinGen
Ensembl
rs1353458011
CA398042628
1697 A>G No ClinGen
gnomAD
CA398042633
rs1232643110
1697 A>T No ClinGen
gnomAD
CA8376941
rs772874918
1699 S>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1700 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8376940
rs765615644
1700 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs762128215
CA8376939
1701 R>Q No ClinGen
ExAC
gnomAD
CA8376938
rs777194483
1702 A>G No ClinGen
ExAC
gnomAD
rs1597597065
CA398042604
1702 A>P No ClinGen
Ensembl
rs1390882584
CA398042598
1703 R>C No ClinGen
gnomAD
rs769105110
CA8376937
1703 R>H No ClinGen
ExAC
gnomAD
CA8376936
rs150261129
1704 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8376934
rs772298747
1706 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199665530
CA8376931
COSM162712
1707 E>K Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372388211
CA8376930
1708 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781054950
CA8376929
1708 Q>R No ClinGen
ExAC
gnomAD
CA8376928
rs754806170
1710 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs373909561
CA8376927
1711 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA8376926
rs779492520
1714 A>V No ClinGen
ExAC
gnomAD
rs201394166
CA287623411
1715 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1379866738
CA398042467
1715 D>N No ClinGen
TOPMed
rs1338581974
CA398042443
1716 E>A No ClinGen
gnomAD
TCGA novel 1716 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1015774530
CA287623399
1717 I>L No ClinGen
TOPMed
CA8376923
rs764869831
1718 T>N No ClinGen
ExAC
gnomAD
rs1597596792
CA398042420
1718 T>P No ClinGen
Ensembl
CA8376922
rs762227698
1719 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs150930070
CA8376920
1721 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1020957538
COSM437873
CA287623383
1722 S>F Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs771872187
CA8376871
1725 S>C No ClinGen
ExAC
gnomAD
rs527403611
CA8376869
1726 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
RCV000922228
rs111570631
CA8376868
1726 A>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8376866
rs369234518
1728 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375069093
CA8376863
1732 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375069093
CA8376862
1732 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398042246
rs150332952
COSM1679556
1732 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8376861
rs371077973
1733 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs371976533
CA8376860
1733 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765309529
CA8376857
1737 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM986324
CA8376858
rs371758579
1737 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
rs1014119460
CA287622442
1738 I>M No ClinGen
TOPMed
gnomAD
CA8376855
rs367867967
1738 I>T No ClinGen
ESP
ExAC
gnomAD
rs1178074685
CA398042217
1738 I>V No ClinGen
TOPMed
rs767265670
COSM986323
CA8376854
1739 A>T endometrium Variant assessed as Somatic; 4.992e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA8376853
rs759440535
1741 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA398042188
rs1159027232
1743 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1567766941
CA398042180
1744 E>K No ClinGen
Ensembl
rs1426753946
CA398042159
1747 E>K No ClinGen
gnomAD
CA398042147
rs1193732810
1748 E>G No ClinGen
TOPMed
gnomAD
CA8376851
rs770842872
1749 Q>H No ClinGen
ExAC
gnomAD
TCGA novel 1752 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398042116
rs1456190505
1752 M>T No ClinGen
TOPMed
TCGA novel 1754 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1481892310
CA398042096
1755 L>F No ClinGen
gnomAD
CA8376849
rs772808442
1756 N>S No ClinGen
ExAC
gnomAD
rs747780817
CA8376847
1757 D>H No ClinGen
ExAC
gnomAD
rs781033424
CA8376846
1758 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs768900605
CA8376845
1758 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8376844
rs780299862
CA8376843
1759 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA8376842
rs781357284
1760 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8376841
rs750964095
1760 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1440660628
CA398042058
1761 K>N No ClinGen
Ensembl
CA398042041
rs1460230623
1764 L>P No ClinGen
gnomAD
CA398042016
rs1376489969
1766 V>A No ClinGen
TOPMed
CA287622252
rs908061379
1766 V>M No ClinGen
Ensembl
rs1433736551
CA398041999
1769 L>Q No ClinGen
gnomAD
CA287622245
rs935477334
1769 L>V No ClinGen
TOPMed
gnomAD
CA8376825
rs780429629
1771 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8376823
rs746339192
1774 A>T No ClinGen
ExAC
gnomAD
rs1209419518
CA398041966
1774 A>V No ClinGen
TOPMed
gnomAD
CA398041965
rs1181769839
1775 A>T No ClinGen
gnomAD
rs1320182276
CA398041960
1775 A>V No ClinGen
TOPMed
CA8376821
rs757313647
1776 E>K No ClinGen
ExAC
gnomAD
rs1189046213
CA398041950
1777 R>C No ClinGen
TOPMed
gnomAD
rs753855723
CA8376820
1777 R>H No ClinGen
ExAC
gnomAD
rs145005443
CA8376818
1779 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8376815
rs762882971
1780 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA8376816
rs762882971
1780 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA398041926
rs1296757902
1781 Q>R No ClinGen
TOPMed
gnomAD
CA8376813
rs765325286
1785 N>S No ClinGen
ExAC
gnomAD
CA8376811
rs536621301
1787 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs566193797
CA8376810
1787 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8376809
rs763547917
1788 Q>H No ClinGen
ExAC
gnomAD
rs775041023
CA8376807
1791 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA398041861
rs1357098058
1791 E>Q No ClinGen
TOPMed
rs772477507
CA8376806
1792 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA287622129
rs373530537
1792 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs992122413
CA287622088
1794 N>S No ClinGen
TOPMed
gnomAD
CA287622085
rs1018614920
1795 K>E No ClinGen
Ensembl
rs777869873
CA8376801
1802 Q>R No ClinGen
ExAC
gnomAD
rs779272764
CA287622042
1805 E>K No ClinGen
Ensembl
CA398041758
rs1336859203
1806 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA398041755
rs1212440022
1807 A>T No ClinGen
TOPMed
CA8376799
rs201873473
1808 V>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8376798
rs781325411
1809 K>N No ClinGen
ExAC
gnomAD
CA398041736
rs1332494820
1810 S>P No ClinGen
gnomAD
rs1271691405
CA398041727
1811 K>R No ClinGen
gnomAD
rs1325448385
CA398041707
1814 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA287622004
rs1014989232
1815 T>N No ClinGen
TOPMed
rs1442398416
CA398041693
1816 I>T No ClinGen
gnomAD
rs571399892
CA8376796
1816 I>V No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 1820 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8376795
rs765135062
1821 A>T No ClinGen
ExAC
gnomAD
rs1190125190
CA398041648
1823 I>T No ClinGen
TOPMed
CA8376793
rs149954707
1828 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8376792
rs763641712
1828 E>V No ClinGen
ExAC
gnomAD
rs370383494
CA287621976
1830 L>R No ClinGen
ESP
TOPMed
gnomAD
CA398041599
rs1191130695
1831 E>K No ClinGen
gnomAD
rs1253699514
CA398041591
1832 Q>E No ClinGen
TOPMed
gnomAD
rs1213033973
CA398041583
1833 E>K No ClinGen
gnomAD
CA398041573
rs1242717355
1834 A>P No ClinGen
gnomAD
TCGA novel 1834 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747160171
CA287620540
1837 R>Q No ClinGen
gnomAD
rs756085730
CA8376772
1839 A>D No ClinGen
ExAC
gnomAD
rs764007614
CA8376773
1839 A>T No ClinGen
ExAC
TOPMed
gnomAD
COSM252630
rs767038599
CA8376770
1840 A>T ovary [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs977564720
CA287620499
1842 K>T No ClinGen
Ensembl
CA8376768
rs375000437
1843 L>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398041109
rs560843007
1844 V>F No ClinGen
ExAC
gnomAD
CA8376767
rs560843007
1844 V>L No ClinGen
ExAC
gnomAD
CA8376766
rs766707630
1845 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763285249
CA8376765
1846 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA398041084
rs1410249872
1846 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8376764
rs773763080
1847 T>A No ClinGen
ExAC
gnomAD
rs1249383948
CA398041044
1849 K>N No ClinGen
gnomAD
CA398040981
rs776800717
1854 I>S No ClinGen
ExAC
TOPMed
gnomAD
rs776800717
CA8376760
1854 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs150611071
CA8376761
1854 I>V No ClinGen
ESP
ExAC
gnomAD
rs768884896
CA8376759
1855 F>C No ClinGen
ExAC
gnomAD
rs747198706
CA8376758
1855 F>L No ClinGen
ExAC
gnomAD
rs780485663
CA398040960
1856 M>K No ClinGen
ExAC
gnomAD
rs780485663
CA8376757
1856 M>T No ClinGen
ExAC
gnomAD
CA398040929
rs1428681356
1858 V>A No ClinGen
TOPMed
CA8376756
rs770849560
1858 V>I No ClinGen
ExAC
CA8376754
rs755958494
1861 E>D No ClinGen
ExAC
gnomAD
rs748972290
CA8376755
1861 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM986319
rs780650576
CA8376752
1862 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA8376751
rs780650576
1862 R>G No ClinGen
ExAC
gnomAD
rs1356493580
CA398040867
1862 R>H No ClinGen
gnomAD
CA8376748
rs191086005
1865 A>T No ClinGen
1000Genomes
TOPMed
gnomAD
rs1159866671
COSM1216118
CA398040826
1865 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA398040795
rs762670904
1867 Q>H No ClinGen
ExAC
gnomAD
CA8376744
rs369706442
1868 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1869 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1475444692
CA398040742
1871 Q>E No ClinGen
gnomAD
CA8376720
rs764632417
1873 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA287619099
rs764632417
1873 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA287619097
rs1024292993
1873 E>V No ClinGen
Ensembl
rs1385945186
CA398040561
1874 K>E No ClinGen
TOPMed
rs1441574134
CA398040546
1875 A>G No ClinGen
gnomAD
rs1291585056
CA398040540
1876 N>S No ClinGen
gnomAD
CA8376716
rs371705630
1877 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8376714
rs769462957
1878 R>Q No ClinGen
ExAC
gnomAD
CA8376712
rs748002999
1884 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8376711
rs776414061
1884 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA398039979
rs1463674290
1888 E>K No ClinGen
TOPMed
CA8376709
rs746969925
1889 A>G No ClinGen
ExAC
gnomAD
CA8376708
rs139898919
1892 E>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778680463
CA8376706
1893 A>G No ClinGen
ExAC
TOPMed
CA8376707
rs757963661
1893 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA8376705
COSM986317
rs778680463
1893 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
CA8376703
rs535259525
1894 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1235028445
CA398039883
1895 R>C No ClinGen
gnomAD
rs753298336
CA8376700
1895 R>H No ClinGen
ExAC
gnomAD
rs753298336
CA8376701
1895 R>L No ClinGen
ExAC
gnomAD
CA287618994
rs970243784
1896 A>T No ClinGen
TOPMed
CA8376699
rs767475330
1897 N>S No ClinGen
ExAC
gnomAD
rs1410027751
CA398039847
1898 A>T No ClinGen
gnomAD
rs774432735
CA8376697
1898 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8376696
rs766555239
1899 S>F No ClinGen
ExAC
gnomAD
rs763174636
CA8376695
1900 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1173737598
CA398039830
1901 R>C No ClinGen
gnomAD
rs1322152286
CA398039825
1902 K>E No ClinGen
TOPMed
rs549746103
CA287618972
1905 R>Q No ClinGen
TOPMed
rs768468013
CA8376693
1905 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8376691
rs775543517
1910 A>V No ClinGen
ExAC
rs1251720180
CA398039762
1911 T>I No ClinGen
gnomAD
CA8376687
rs201138840
1912 E>D No ClinGen
1000Genomes
rs778816874
CA287618938
1912 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1268991775
CA398039750
1913 A>V No ClinGen
TOPMed
rs1355392161
CA398039745
1914 N>S No ClinGen
TOPMed
CA8376685
rs770661544
1915 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8376684
rs748983002
1916 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs778253501
CA8376683
1917 L>P No ClinGen
ExAC
gnomAD
rs367919911
CA8376682
1919 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398039706
rs1287490358
1920 E>D No ClinGen
gnomAD
CA398039712
rs1249074738
1920 E>K No ClinGen
TOPMed
rs781756908
CA8376680
1921 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs750680207
CA8376675
1927 R>Q No ClinGen
ExAC
gnomAD
CA8376676
RCV000756372
rs763121137
1927 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs762039635
CA8376653
1929 R>S No ClinGen
ExAC
gnomAD
rs774205864
CA8376649
1930 R>L No ClinGen
ExAC
gnomAD
rs774205864
CA8376650
1930 R>Q No ClinGen
ExAC
gnomAD
rs199834633
CA8376651
1930 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1397238630
CA398039634
1931 G>C No ClinGen
TOPMed
gnomAD
rs762618977
CA398039626
1932 G>A No ClinGen
ExAC
gnomAD
rs762618977
CA8376647
1932 G>V No ClinGen
ExAC
gnomAD
rs1389025741
CA398039623
1933 P>S No ClinGen
gnomAD
rs78787833
CA8376645
1938 S>P No ClinGen
ExAC
gnomAD
COSM294587
CA8376644
rs370970711
1940 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8376643
rs777012280
1941 S>C No ClinGen
ExAC
gnomAD
rs1471808031
CA398039572
1941 S>P No ClinGen
gnomAD
CA8376641
rs747525947
1943 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8376642
rs768939763
1943 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs148348930
CA8376640
1944 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758465342
CA8376639
1944 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs758465342
CA398039556
1944 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8376638
rs778990035
1945 Q>* No ClinGen
ExAC
gnomAD
rs778990035
CA8376637
1945 Q>K No ClinGen
ExAC
gnomAD
rs757464782
CA8376636
1945 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1235777255
CA398039547
1946 L>P No ClinGen
TOPMed
gnomAD
CA398039549
rs1271861199
1946 L>V No ClinGen
gnomAD
rs1315255260
CA398039533
1948 L>P No ClinGen
Ensembl
CA398039513
rs1300038693
1951 A>G No ClinGen
TOPMed
CA8376634
rs144361331
1952 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754789779
CA8376633
1954 E>Q No ClinGen
ExAC
gnomAD
rs766352510
CA8376631
1957 D>N No ClinGen
ExAC
rs766352510
CA287617720
1957 D>Y No ClinGen
ExAC
rs1317908442
CA398039476
1958 D>N No ClinGen
gnomAD
CA8376627
rs764871429
1962 S>R No ClinGen
ExAC
gnomAD
rs149634202
CA8376628
1962 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8376625
rs776194681
1964 T>I No ClinGen
ExAC
gnomAD
TCGA novel 1965 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398039411
rs1597576993
1967 V>I No ClinGen
Ensembl
rs145902144
CA287617633
1968 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398039401
rs1487161756
1968 N>S No ClinGen
TOPMed
CA8376620
rs377519657
1969 E>K No ClinGen
ESP
ExAC
gnomAD
CA398039386
rs1479466753
1970 T>M No ClinGen
TOPMed
CA8376618
rs757333170
1971 Q>* No ClinGen
ExAC
gnomAD
rs749514301
CA8376617
1971 Q>H No ClinGen
ExAC
gnomAD
rs979552016
CA287617587
1973 P>L No ClinGen
TOPMed
CA8376616
rs559508716
1973 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398039367
rs1343446178
1974 Q>* No ClinGen
gnomAD
rs756363491
CA8376615
1976 E>* No ClinGen
ExAC
gnomAD
rs766299041
CA8376613
1976 E>D No ClinGen
ExAC
gnomAD
rs747974242
CA8376611
1976 E>K No ClinGen
ExAC
gnomAD

No associated diseases with P35580

11 regional properties for P35580

Type Name Position InterPro Accession
repeat Thrombospondin type-1 (TSP1) repeat 389 - 444 IPR000884-1
repeat Thrombospondin type-1 (TSP1) repeat 693 - 748 IPR000884-2
repeat Thrombospondin type-1 (TSP1) repeat 747 - 810 IPR000884-3
repeat Thrombospondin type-1 (TSP1) repeat 904 - 959 IPR000884-4
repeat Thrombospondin type-1 (TSP1) repeat 958 - 1019 IPR000884-5
repeat Thrombospondin type-1 (TSP1) repeat 1078 - 1137 IPR000884-6
domain Peptidase M12B, ADAM/reprolysin 74 - 291 IPR001590
domain ADAM, cysteine-rich domain 305 - 379 IPR006586
domain ADAMTS/ADAMTS-like, Spacer 1 563 - 684 IPR010294
domain ADAMTS, cysteine-rich domain 2 306 - 376 IPR041645
domain ADAMTS/ADAMTS-like, cysteine-rich domain 3 446 - 560 IPR045371

Functions

Description
EC Number
Subcellular Localization
  • Cell projection, lamellipodium
  • Colocalizes with MCC at the leading edge of migrating cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

14 GO annotations of cellular component

Name Definition
actomyosin Any complex of actin, myosin, and accessory proteins.
cell cortex The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
cleavage furrow The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm.
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.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
lamellipodium A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
midbody A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
myosin complex A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes.
myosin filament A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament.
myosin II complex A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures.
myosin II filament A bipolar filament composed of myosin II molecules.
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.
stress fiber A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber.

8 GO annotations of molecular function

Name Definition
actin binding Binding to monomeric or multimeric forms of actin, including actin filaments.
actin filament binding Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
ADP binding Binding to ADP, adenosine 5'-diphosphate.
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calmodulin binding Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
microfilament motor activity A motor activity that generates movement along a microfilament, driven by ATP hydrolysis.
mRNA 5'-UTR binding Binding to an mRNA molecule at its 5' untranslated region.
RNA stem-loop binding Binding to a stem-loop in an RNA molecule. An RNA stem-loop is a secondary RNA structure consisting of a double-stranded RNA (dsRNA) stem and a terminal loop.

6 GO annotations of biological process

Name Definition
actin filament-based movement Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins.
actomyosin structure organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments.
cell adhesion The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
mitotic cytokinesis A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells.
positive regulation of protein secretion Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell.
regulation of cell shape Any process that modulates the surface configuration of a cell.

57 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9BE40 MYH1 Myosin-1 Bos taurus (Bovine) SS
Q9BE41 MYH2 Myosin-2 Bos taurus (Bovine) SS
Q9BE39 MYH7 Myosin-7 Bos taurus (Bovine) SS
Q27991 MYH10 Myosin-10 Bos taurus (Bovine) SS
P14105 MYH9 Myosin-9 Gallus gallus (Chicken) SS
Q02440 MYO5A Unconventional myosin-Va Gallus gallus (Chicken) SS
P02565 MYH1B Myosin-1B Gallus gallus (Chicken) SS
P13538 Myosin heavy chain, skeletal muscle, adult Gallus gallus (Chicken) SS
P10587 MYH11 Myosin-11 Gallus gallus (Chicken) SS
P05661 Mhc Myosin heavy chain, muscle Drosophila melanogaster (Fruit fly) SS
Q99323 zip Myosin heavy chain, non-muscle Drosophila melanogaster (Fruit fly) SS
Q5U651 RASIP1 Ras-interacting protein 1 Homo sapiens (Human) PR
B0I1T2 MYO1G Unconventional myosin-Ig Homo sapiens (Human) PR
Q9NQX4 MYO5C Unconventional myosin-Vc Homo sapiens (Human) SS
Q9ULV0 MYO5B Unconventional myosin-Vb Homo sapiens (Human) SS
Q9Y4I1 MYO5A Unconventional myosin-Va Homo sapiens (Human) SS
P11055 MYH3 Myosin-3 Homo sapiens (Human) SS
Q9Y623 MYH4 Myosin-4 Homo sapiens (Human) SS
Q9UKX2 MYH2 Myosin-2 Homo sapiens (Human) SS
P13535 MYH8 Myosin-8 Homo sapiens (Human) SS
P12882 MYH1 Myosin-1 Homo sapiens (Human) SS
Q9UKX3 MYH13 Myosin-13 Homo sapiens (Human) SS
P12883 MYH7 Myosin-7 Homo sapiens (Human) EV
P13533 MYH6 Myosin-6 Homo sapiens (Human) SS
A7E2Y1 MYH7B Myosin-7B Homo sapiens (Human) SS
Q9Y2K3 MYH15 Myosin-15 Homo sapiens (Human) SS
P35749 MYH11 Myosin-11 Homo sapiens (Human) SS
P35579 MYH9 Myosin-9 Homo sapiens (Human) SS
Q7Z406 MYH14 Myosin-14 Homo sapiens (Human) SS
Q5SX39 Myh4 Myosin-4 Mus musculus (Mouse) SS
P13542 Myh8 Myosin-8 Mus musculus (Mouse) SS
Q3U0S6 Rasip1 Ras-interacting protein 1 Mus musculus (Mouse) PR
P21271 Myo5b Unconventional myosin-Vb Mus musculus (Mouse) SS
Q02566 Myh6 Myosin-6 Mus musculus (Mouse) SS
O08638 Myh11 Myosin-11 Mus musculus (Mouse) SS
A2AQP0 Myh7b Myosin-7B Mus musculus (Mouse) SS
Q91Z83 Myh7 Myosin-7 Mus musculus (Mouse) SS
P13541 Myh3 Myosin-3 Mus musculus (Mouse) SS
Q99104 Myo5a Unconventional myosin-Va Mus musculus (Mouse) EV
Q5SX40 Myh1 Myosin-1 Mus musculus (Mouse) SS
Q6URW6 Myh14 Myosin-14 Mus musculus (Mouse) SS
Q8VDD5 Myh9 Myosin-9 Mus musculus (Mouse) SS
Q61879 Myh10 Myosin-10 Mus musculus (Mouse) SS
P79293 MYH7 Myosin-7 Sus scrofa (Pig) SS
Q9TV63 MYH2 Myosin-2 Sus scrofa (Pig) SS
P12847 Myh3 Myosin-3 Rattus norvegicus (Rat) SS
P70569 Myo5b Unconventional myosin-Vb Rattus norvegicus (Rat) SS
P02563 Myh6 Myosin-6 Rattus norvegicus (Rat) SS
P02564 Myh7 Myosin-7 Rattus norvegicus (Rat) SS
Q62812 Myh9 Myosin-9 Rattus norvegicus (Rat) SS
Q29RW1 Myh4 Myosin-4 Rattus norvegicus (Rat) SS
Q9JLT0 Myh10 Myosin-10 Rattus norvegicus (Rat) SS
P02566 unc-54 Myosin-4 Caenorhabditis elegans SS
P12844 myo-3 Myosin-3 Caenorhabditis elegans SS
P02567 myo-1 Myosin-1 Caenorhabditis elegans SS
P12845 myo-2 Myosin-2 Caenorhabditis elegans SS
Q9M2K0 XI-J Myosin-16 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MAQRTGLEDP ERYLFVDRAV IYNPATQADW TAKKLVWIPS ERHGFEAASI KEERGDEVMV
70 80 90 100 110 120
ELAENGKKAM VNKDDIQKMN PPKFSKVEDM AELTCLNEAS VLHNLKDRYY SGLIYTYSGL
130 140 150 160 170 180
FCVVINPYKN LPIYSENIIE MYRGKKRHEM PPHIYAISES AYRCMLQDRE DQSILCTGES
190 200 210 220 230 240
GAGKTENTKK VIQYLAHVAS SHKGRKDHNI PGELERQLLQ ANPILESFGN AKTVKNDNSS
250 260 270 280 290 300
RFGKFIRINF DVTGYIVGAN IETYLLEKSR AVRQAKDERT FHIFYQLLSG AGEHLKSDLL
310 320 330 340 350 360
LEGFNNYRFL SNGYIPIPGQ QDKDNFQETM EAMHIMGFSH EEILSMLKVV SSVLQFGNIS
370 380 390 400 410 420
FKKERNTDQA SMPENTVAQK LCHLLGMNVM EFTRAILTPR IKVGRDYVQK AQTKEQADFA
430 440 450 460 470 480
VEALAKATYE RLFRWLVHRI NKALDRTKRQ GASFIGILDI AGFEIFELNS FEQLCINYTN
490 500 510 520 530 540
EKLQQLFNHT MFILEQEEYQ REGIEWNFID FGLDLQPCID LIERPANPPG VLALLDEECW
550 560 570 580 590 600
FPKATDKTFV EKLVQEQGSH SKFQKPRQLK DKADFCIIHY AGKVDYKADE WLMKNMDPLN
610 620 630 640 650 660
DNVATLLHQS SDRFVAELWK DVDRIVGLDQ VTGMTETAFG SAYKTKKGMF RTVGQLYKES
670 680 690 700 710 720
LTKLMATLRN TNPNFVRCII PNHEKRAGKL DPHLVLDQLR CNGVLEGIRI CRQGFPNRIV
730 740 750 760 770 780
FQEFRQRYEI LTPNAIPKGF MDGKQACERM IRALELDPNL YRIGQSKIFF RAGVLAHLEE
790 800 810 820 830 840
ERDLKITDII IFFQAVCRGY LARKAFAKKQ QQLSALKVLQ RNCAAYLKLR HWQWWRVFTK
850 860 870 880 890 900
VKPLLQVTRQ EEELQAKDEE LLKVKEKQTK VEGELEEMER KHQQLLEEKN ILAEQLQAET
910 920 930 940 950 960
ELFAEAEEMR ARLAAKKQEL EEILHDLESR VEEEEERNQI LQNEKKKMQA HIQDLEEQLD
970 980 990 1000 1010 1020
EEEGARQKLQ LEKVTAEAKI KKMEEEILLL EDQNSKFIKE KKLMEDRIAE CSSQLAEEEE
1030 1040 1050 1060 1070 1080
KAKNLAKIRN KQEVMISDLE ERLKKEEKTR QELEKAKRKL DGETTDLQDQ IAELQAQIDE
1090 1100 1110 1120 1130 1140
LKLQLAKKEE ELQGALARGD DETLHKNNAL KVVRELQAQI AELQEDFESE KASRNKAEKQ
1150 1160 1170 1180 1190 1200
KRDLSEELEA LKTELEDTLD TTAAQQELRT KREQEVAELK KALEEETKNH EAQIQDMRQR
1210 1220 1230 1240 1250 1260
HATALEELSE QLEQAKRFKA NLEKNKQGLE TDNKELACEV KVLQQVKAES EHKRKKLDAQ
1270 1280 1290 1300 1310 1320
VQELHAKVSE GDRLRVELAE KASKLQNELD NVSTLLEEAE KKGIKFAKDA ASLESQLQDT
1330 1340 1350 1360 1370 1380
QELLQEETRQ KLNLSSRIRQ LEEEKNSLQE QQEEEEEARK NLEKQVLALQ SQLADTKKKV
1390 1400 1410 1420 1430 1440
DDDLGTIESL EEAKKKLLKD AEALSQRLEE KALAYDKLEK TKNRLQQELD DLTVDLDHQR
1450 1460 1470 1480 1490 1500
QVASNLEKKQ KKFDQLLAEE KSISARYAEE RDRAEAEARE KETKALSLAR ALEEALEAKE
1510 1520 1530 1540 1550 1560
EFERQNKQLR ADMEDLMSSK DDVGKNVHEL EKSKRALEQQ VEEMRTQLEE LEDELQATED
1570 1580 1590 1600 1610 1620
AKLRLEVNMQ AMKAQFERDL QTRDEQNEEK KRLLIKQVRE LEAELEDERK QRALAVASKK
1630 1640 1650 1660 1670 1680
KMEIDLKDLE AQIEAANKAR DEVIKQLRKL QAQMKDYQRE LEEARASRDE IFAQSKESEK
1690 1700 1710 1720 1730 1740
KLKSLEAEIL QLQEELASSE RARRHAEQER DELADEITNS ASGKSALLDE KRRLEARIAQ
1750 1760 1770 1780 1790 1800
LEEELEEEQS NMELLNDRFR KTTLQVDTLN AELAAERSAA QKSDNARQQL ERQNKELKAK
1810 1820 1830 1840 1850 1860
LQELEGAVKS KFKATISALE AKIGQLEEQL EQEAKERAAA NKLVRRTEKK LKEIFMQVED
1870 1880 1890 1900 1910 1920
ERRHADQYKE QMEKANARMK QLKRQLEEAE EEATRANASR RKLQRELDDA TEANEGLSRE
1930 1940 1950 1960 1970
VSTLKNRLRR GGPISFSSSR SGRRQLHLEG ASLELSDDDT ESKTSDVNET QPPQSE