Descriptions

Formin-family proteins, in the active state, form actin-based structures such as stress fibers. Formin homology domain protein 1 (FHOD1) is a major endothelial formin and is normally autoinhibited by intramolecular interaction between the N-terminal GBD domain and C-terminal DAD domain. The release of DAD allows the FH2 domain to then nucleate and elongate non-branched actin filaments.

Autoinhibitory domains (AIDs)

Target domain

616-1013 (FH2 domains)

Relief mechanism

PTM

Assay

Mutagenesis experiment, Deletion assay, Split protein assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

4 structures for Q9Y613

Entry ID Method Resolution Chain Position Source
3DAD X-ray 230 A A/B 1-339 PDB
6XF1 X-ray 280 A B/D 14-334 PDB
6XF2 X-ray 711 A B/D 14-334 PDB
AF-Q9Y613-F1 Predicted AlphaFoldDB

1032 variants for Q9Y613

Variant ID(s) Position Change Description Diseaes Association Provenance
CA396314464
rs1213350921
2 A>P No ClinGen
gnomAD
CA282322989
rs202198443
2 A>V No ClinGen
TOPMed
gnomAD
rs1225828340
CA396314422
3 G>V No ClinGen
TOPMed
gnomAD
rs1307433020
CA396314402
4 G>W No ClinGen
gnomAD
CA396314366
rs1214633722
6 D>N No ClinGen
gnomAD
rs766867560
CA8106624
7 R>G No ClinGen
ExAC
gnomAD
rs371173821
CA8106623
8 G>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1265666981
CA396314254
10 G>A No ClinGen
gnomAD
CA8106620
rs539343247
12 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs539343247
CA8106619
12 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA282322943
rs557437499
12 P>S No ClinGen
1000Genomes
TOPMed
rs557437499
CA396314177
12 P>T No ClinGen
1000Genomes
TOPMed
CA396314157
rs1171120616
13 V>L No ClinGen
gnomAD
CA396314101
rs1475037099
15 V>A No ClinGen
TOPMed
rs1430355671
CA396314108
15 V>M No ClinGen
TOPMed
gnomAD
CA396314095
rs1393404584
16 V>M No ClinGen
gnomAD
CA8106618
rs768513270
17 T>A No ClinGen
ExAC
gnomAD
rs749236488
CA8106617
17 T>I No ClinGen
ExAC
gnomAD
rs1255213937
CA396314026
18 V>G No ClinGen
gnomAD
rs769604004
CA8106615
21 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs867246971
CA282322931
22 Y>H No ClinGen
gnomAD
rs867246971
CA396313954
22 Y>N No ClinGen
gnomAD
rs571828284
CA8106613
23 L>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs745712930
CA8106614
23 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA396313820
rs1233054976
27 D>N No ClinGen
gnomAD
rs779142609
CA8106610
30 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs779142609
CA396313738
30 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8106609
rs755488635
31 C>S No ClinGen
ExAC
TOPMed
gnomAD
rs1395561984
CA396313703
31 C>Y No ClinGen
TOPMed
gnomAD
CA8106607
rs199924523
35 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396313585
rs1435509255
36 E>D No ClinGen
gnomAD
rs1173097174
CA396313609
36 E>K No ClinGen
gnomAD
CA396313550
rs1397104508
38 R>C No ClinGen
gnomAD
CA8106606
rs750850328
38 R>H No ClinGen
ExAC
gnomAD
CA8106605
rs750850328
38 R>L No ClinGen
ExAC
gnomAD
rs1418829065
CA396313536
39 R>W No ClinGen
gnomAD
rs767070782
CA396313515
40 A>P No ClinGen
ExAC
gnomAD
CA8106604
rs767070782
40 A>S No ClinGen
ExAC
gnomAD
CA282322892
rs767070782
40 A>T No ClinGen
ExAC
gnomAD
rs992063266
CA282322885
41 P>A No ClinGen
TOPMed
gnomAD
CA396313468
rs1597336947
41 P>L No ClinGen
Ensembl
rs1484994701
CA396313460
42 T>I No ClinGen
gnomAD
rs1209541498
CA396313455
43 C>S No ClinGen
gnomAD
rs761530842
CA8106603
44 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs773676466
CA396313403
44 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs761530842
CA396313412
44 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA282322874
rs567469416
45 L>P No ClinGen
1000Genomes
rs763615681
CA8106601
46 D>E No ClinGen
ExAC
gnomAD
rs957962312
CA282322869
46 D>N No ClinGen
TOPMed
gnomAD
rs1307485450
CA396313349
47 G>W No ClinGen
gnomAD
rs762833884
CA8106600
48 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1220658110
CA396313318
48 A>V No ClinGen
TOPMed
rs775373777
CA8106599
50 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA396313212
rs1567399870
53 A>E No ClinGen
Ensembl
rs1453348290
CA396313159
54 Q>H No ClinGen
TOPMed
gnomAD
CA396313138
rs1206679925
55 I>T No ClinGen
TOPMed
rs1370102722
CA396313113
56 P>L No ClinGen
gnomAD
CA396313123
rs1364697882
56 P>T No ClinGen
TOPMed
gnomAD
rs769770868
CA8106598
57 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs371163067
CA8106597
57 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA282322838
rs967892821
63 G>R No ClinGen
Ensembl
CA396312831
rs1465290345
64 A>G No ClinGen
gnomAD
rs1465290345
CA396312830
64 A>V No ClinGen
gnomAD
CA396312817
rs1229990575
65 P>S No ClinGen
gnomAD
rs779087433
CA8106593
66 L>F No ClinGen
ExAC
gnomAD
CA396309727
rs1252073588
68 L>V No ClinGen
TOPMed
gnomAD
rs201110066
CA8106577
69 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA396309698
rs1453167148
70 D>N No ClinGen
TOPMed
gnomAD
rs149529136
CA8106575
72 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149529136
CA8106574
72 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396309588
rs1597328066
73 L>P No ClinGen
Ensembl
rs1442166694
CA396309530
74 Q>H No ClinGen
TOPMed
rs769052388
CA8106573
74 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs868071545
CA282316804
75 V>L No ClinGen
Ensembl
rs540354299
CA282316798
77 P>A No ClinGen
Ensembl
rs1299959982
CA396309471
77 P>L No ClinGen
gnomAD
CA396309425
rs150611515
79 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8106571
rs150611515
79 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396309354
rs1439049011
80 Y>* No ClinGen
gnomAD
rs770139198
CA8106570
80 Y>H No ClinGen
ExAC
gnomAD
CA396309328
rs1239514684
81 Y>* No ClinGen
TOPMed
gnomAD
CA282316789
rs769945366
81 Y>C No ClinGen
TOPMed
CA396309342
rs1334396409
81 Y>D No ClinGen
gnomAD
CA396309306
rs1328746309
82 L>P No ClinGen
gnomAD
rs866922991
CA282316782
83 D>G No ClinGen
Ensembl
rs983132447
CA282316788
83 D>N No ClinGen
Ensembl
CA282316779
rs751768375
84 T>A No ClinGen
TOPMed
gnomAD
CA396309249
rs1370591121
84 T>I No ClinGen
gnomAD
CA396309237
rs1567393918
85 E>K No ClinGen
Ensembl
rs1202882602
CA396309131
89 E>K No ClinGen
TOPMed
CA8106567
rs757610175
92 R>Q No ClinGen
ExAC
gnomAD
CA396308916
rs1483224603
94 M>I No ClinGen
TOPMed
rs1187049425
CA396308905
95 L>P No ClinGen
TOPMed
CA396308901
rs1483345839
96 E>K No ClinGen
gnomAD
rs1276797977
CA396308867
97 G>C No ClinGen
TOPMed
gnomAD
rs751968775
CA8106566
97 G>D No ClinGen
ExAC
gnomAD
CA396308870
rs1276797977
97 G>S No ClinGen
TOPMed
gnomAD
rs1347331147
CA396308814
99 Y>C No ClinGen
TOPMed
gnomAD
CA8106565
rs201953720
101 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs138319092
CA8106563
102 I>T No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs758111434
CA8106562
103 S>G No ClinGen
ExAC
gnomAD
rs1291940124
CA396308571
104 K>N No ClinGen
TOPMed
gnomAD
CA282316455
rs967146400
106 R>Q No ClinGen
TOPMed
gnomAD
CA282316458
rs940031284
106 R>W No ClinGen
TOPMed
gnomAD
CA396308429
rs1347930201
109 T>M No ClinGen
Ensembl
rs1022198584
CA282316454
113 R>W No ClinGen
gnomAD
rs1435471216
CA396308314
114 T>A No ClinGen
TOPMed
CA8106542
rs754484700
117 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs753341714
CA8106541
121 N>S No ClinGen
ExAC
gnomAD
rs1413971720
CA396308037
COSM2994560
122 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA396308013
rs1160854447
123 I>V No ClinGen
TOPMed
rs1267728082
CA396307628
127 L>P No ClinGen
gnomAD
CA396307425
rs1305208794
132 G>D No ClinGen
gnomAD
CA396307357
rs1441351495
134 E>Q No ClinGen
gnomAD
rs748552667
CA8106526
135 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs145840650
CA8106525
136 R>C No ClinGen
ESP
ExAC
gnomAD
CA8106524
rs754648916
136 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs748830125
CA8106523
137 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8106522
rs779437165
137 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA396307222
rs779437165
137 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs748830125
CA282315995
137 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs910461067
CA282315979
138 S>Y No ClinGen
Ensembl
rs756065183
CA8106521
139 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1169304513
CA396307181
140 F>L No ClinGen
gnomAD
CA282315962
rs954629708
141 S>L No ClinGen
Ensembl
CA396306992
rs1193290163
145 I>M No ClinGen
gnomAD
CA396307025
rs1406533762
145 I>N No ClinGen
Ensembl
rs1269942068
CA396306963
146 F>L No ClinGen
gnomAD
CA8106518
rs757096015
147 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1254800316
CA396306812
148 E>Q No ClinGen
gnomAD
CA8106499
rs751300179
149 D>G No ClinGen
ExAC
gnomAD
rs1257478931
CA396306698
152 L>M No ClinGen
gnomAD
rs777441924
CA8106498
155 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8106496
rs754039931
157 V>E No ClinGen
ExAC
gnomAD
CA8106495
rs372756034
159 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1269523734
CA396306442
161 G>R No ClinGen
TOPMed
rs1269523734
CA396306431
161 G>W No ClinGen
TOPMed
rs1175703306
CA396306393
163 S>G No ClinGen
Ensembl
rs1327971983
CA723040579
164 C>* No ClinGen
Ensembl
rs1297458426
CA396306346
164 C>S No ClinGen
gnomAD
CA396306331
rs750563807
165 L>Q No ClinGen
ExAC
TOPMed
gnomAD
rs750563807
CA8106493
165 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA8106492
rs768012015
167 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs762232923
CA8106491
167 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA396306254
rs762232923
167 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8106490
rs373603283
172 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396306089
rs1474528498
173 D>G No ClinGen
gnomAD
CA8106488
rs763412691
173 D>N No ClinGen
ExAC
gnomAD
CA396306058
rs1423944782
174 H>Q No ClinGen
gnomAD
rs1186238834
CA396306068
174 H>R No ClinGen
gnomAD
rs775256264
CA8106487
174 H>Y No ClinGen
ExAC
gnomAD
rs1366811401
CA396306032
175 N>S No ClinGen
TOPMed
CA396305979
rs1409590434
177 Q>H No ClinGen
TOPMed
rs140668109
CA8106485
178 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1351919438
CA396305900
180 I>L No ClinGen
TOPMed
rs1268566681
CA396305871
181 L>V No ClinGen
gnomAD
rs770933496
CA8106483
183 A>T No ClinGen
ExAC
gnomAD
CA396304366
rs1167301204
183 A>V No ClinGen
TOPMed
CA8106467
rs769504134
185 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs148338011
CA8106468
185 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396304220
rs1227863684
186 Q>* No ClinGen
gnomAD
CA282315667
rs919184189
188 M>I No ClinGen
Ensembl
CA396304115
rs1433101647
189 L>F No ClinGen
Ensembl
rs1300167969
CA396303979
192 D>V No ClinGen
gnomAD
CA396303919
rs1355875849
193 G>* No ClinGen
gnomAD
CA396303878
rs1597326327
194 M>I No ClinGen
Ensembl
rs770380576
CA8106464
196 G>E No ClinGen
ExAC
gnomAD
CA8106462
rs773001414
197 V>G No ClinGen
ExAC
gnomAD
rs1597326278
CA396303755
198 V>G No ClinGen
Ensembl
rs1597326290
CA396303770
198 V>M No ClinGen
Ensembl
CA396303717
rs1315185282
199 A>T No ClinGen
TOPMed
rs772106179
CA8106460
204 I>V No ClinGen
ExAC
gnomAD
rs747894579
CA8106459
205 Q>H No ClinGen
ExAC
rs1390401508
CA396303486
205 Q>R No ClinGen
gnomAD
rs1341069399
CA396303277
211 C>Y No ClinGen
gnomAD
rs587777904
CA248418
RCV000190292
212 A>V No ClinGen
ClinVar
Ensembl
dbSNP
rs201074597
CA8106447
216 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8106448
rs201074597
216 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8106446
rs766104962
216 R>H No ClinGen
ExAC
gnomAD
rs1208201473
CA396302808
219 V>A No ClinGen
gnomAD
rs151310312
CA8106442
220 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396302726
rs1422267033
221 T>I No ClinGen
TOPMed
gnomAD
rs1410859310
COSM972366
CA396302708
222 A>T endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
rs774086008
CA8106440
223 L>P No ClinGen
ExAC
TOPMed
rs774086008
CA396302663
223 L>R No ClinGen
ExAC
TOPMed
rs184602535
CA8106438
227 L>V No ClinGen
1000Genomes
ExAC
gnomAD
rs781253183
CA8106437
230 V>E No ClinGen
ExAC
gnomAD
rs1358203039
CA396302373
232 Y>N No ClinGen
gnomAD
CA396302269
rs1334476867
234 E>K No ClinGen
gnomAD
CA396302174
rs1385545175
235 N>K No ClinGen
TOPMed
rs1386214466
CA396302144
237 A>T No ClinGen
gnomAD
CA396302084
rs1386105935
238 P>L No ClinGen
TOPMed
CA8106435
rs746993596
239 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1414202318
CA396302001
241 I>V No ClinGen
gnomAD
CA8106434
rs777922035
242 R>C No ClinGen
ExAC
gnomAD
CA8106433
rs149208562
242 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753286217
CA8106432
243 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1328803832
CA396301848
245 N>D No ClinGen
TOPMed
rs1463784973
CA396301790
246 S>T No ClinGen
gnomAD
rs1267925358
CA396301666
248 A>G No ClinGen
gnomAD
CA396301570
rs1351516779
251 T>S No ClinGen
TOPMed
rs755374138
CA8106429
252 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1389777352
CA396301282
253 A>G No ClinGen
gnomAD
CA396301285
rs928387683
253 A>P No ClinGen
TOPMed
gnomAD
CA282315227
rs928387683
253 A>T No ClinGen
TOPMed
gnomAD
rs763948852
CA8106404
256 W>* No ClinGen
ExAC
CA396301163
rs1597325674
256 W>R No ClinGen
Ensembl
rs1451691622
CA396301124
257 A>T No ClinGen
gnomAD
rs1597325656
CA396301086
258 N>S No ClinGen
Ensembl
CA8106403
rs569469386
260 V>L No ClinGen
ExAC
gnomAD
CA8106402
rs775096284
261 S>T No ClinGen
ExAC
gnomAD
CA396300840
rs1489102072
265 E>K No ClinGen
gnomAD
rs769662396
CA8106400
268 G>D No ClinGen
ExAC
gnomAD
rs369404876
CA8106399
269 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs533228055
CA8106398
269 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1422725668
CA396300548
270 D>A No ClinGen
TOPMed
rs1228715854
CA396300525
271 P>A No ClinGen
TOPMed
gnomAD
CA396300491
rs1216765074
271 P>R No ClinGen
gnomAD
CA8106396
rs748236698
273 L>F No ClinGen
ExAC
gnomAD
rs779140496
CA8106395
275 V>M No ClinGen
ExAC
gnomAD
CA8106394
rs376479272
277 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA282315176
rs376479272
277 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372012238
CA8106391
279 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8106390
rs372012238
279 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1170949707
CA396299673
284 T>M No ClinGen
TOPMed
rs1465700159
CA396299637
286 A>P No ClinGen
TOPMed
rs757902430
COSM1378878
CA8106366
286 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs557703439
CA8106364
287 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs367638121
CA8106363
287 A>V No ClinGen
ESP
ExAC
gnomAD
rs1264803028
CA396299544
288 L>F No ClinGen
TOPMed
gnomAD
CA8106362
rs753630901
288 L>P No ClinGen
ExAC
gnomAD
rs1264803028
CA396299595
288 L>V No ClinGen
TOPMed
gnomAD
CA8106359
rs774687823
289 P>R No ClinGen
ExAC
gnomAD
CA8106360
rs762089938
289 P>S No ClinGen
ExAC
gnomAD
CA8106358
rs764462854
291 Q>E No ClinGen
ExAC
gnomAD
CA396299331
rs1216658951
293 S>F No ClinGen
TOPMed
CA8106356
rs373831988
295 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8106355
rs775432050
296 D>N No ClinGen
ExAC
gnomAD
CA8106354
rs770275000
298 T>M No ClinGen
ExAC
gnomAD
CA396299071
rs1160839344
302 E>K No ClinGen
gnomAD
rs776939350
CA8106352
303 Q>* No ClinGen
ExAC
gnomAD
CA8106351
rs771252784
305 G>D No ClinGen
ExAC
gnomAD
rs747423653
CA8106350
307 E>Q No ClinGen
ExAC
gnomAD
rs1444868183
CA396298911
308 A>T No ClinGen
gnomAD
rs368067896
CA8106349
309 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs897849332
CA282314845
311 Q>R No ClinGen
TOPMed
gnomAD
rs758053370
CA8106348
313 H>Y No ClinGen
ExAC
gnomAD
CA8106345
rs754899118
315 G>C No ClinGen
ExAC
gnomAD
CA8106343
rs370846681
316 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1434780234
CA396298650
317 A>V No ClinGen
gnomAD
rs1424150810
CA396298603
319 T>N No ClinGen
TOPMed
rs547533260
CA282314826
320 D>H No ClinGen
TOPMed
rs1470337692
CA396298539
322 D>N No ClinGen
TOPMed
CA396298478
rs1377101439
324 R>C No ClinGen
Ensembl
COSM972364
CA396298466
rs1385624610
324 R>H endometrium [Cosmic] No ClinGen
cosmic curated
gnomAD
CA8106339
rs764305887
325 T>A No ClinGen
ExAC
gnomAD
rs1162115126
COSM3421089
CA396298436
325 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1036789063
CA282314807
327 L>F No ClinGen
Ensembl
rs1424821234
CA396298393
327 L>P No ClinGen
TOPMed
gnomAD
rs1567391280
CA396298366
329 L>F No ClinGen
Ensembl
rs144258782
CA8106337
330 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396298309
rs144258782
330 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763095522
CA8106338
330 Y>F No ClinGen
ExAC
gnomAD
CA396298308
rs1367261754
331 E>K No ClinGen
TOPMed
CA396298307
rs1367261754
331 E>Q No ClinGen
TOPMed
CA8106318
rs752830654
333 A>T No ClinGen
ExAC
gnomAD
rs1408756042
CA396298016
339 G>E No ClinGen
gnomAD
rs928377874
CA282314645
341 I>V No ClinGen
Ensembl
CA396297922
rs1330516913
343 E>G No ClinGen
gnomAD
rs139581188
CA8106317
344 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1401257936
CA396297881
346 G>D No ClinGen
gnomAD
CA396297873
rs1177021256
347 A>T No ClinGen
gnomAD
CA396297844
rs371700085
349 G>A No ClinGen
ESP
TOPMed
gnomAD
CA282314632
rs371700085
349 G>E No ClinGen
ESP
TOPMed
gnomAD
CA396297829
rs1470577109
350 R>Q No ClinGen
gnomAD
rs766805526
CA8106313
351 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8106314
rs150975190
351 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8106312
rs773578700
353 R>* No ClinGen
ExAC
gnomAD
CA8106310
rs772357080
353 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA396297792
rs772357080
353 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA396297738
rs1379952925
357 S>A No ClinGen
TOPMed
gnomAD
CA396297742
rs1379952925
357 S>P No ClinGen
TOPMed
gnomAD
rs1268126911
CA396297728
358 S>A No ClinGen
TOPMed
gnomAD
CA396297725
rs1222672555
358 S>Y No ClinGen
TOPMed
gnomAD
rs748737467
CA8106305
359 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs374375025
CA8106303
360 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779720663
CA8106304
360 E>G No ClinGen
ExAC
gnomAD
rs745829895
CA396297648
361 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA8106302
rs745829895
361 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA396297632
rs1355976618
363 R>G No ClinGen
TOPMed
rs1386323948
CA396297605
364 S>G No ClinGen
gnomAD
CA282314591
rs1032635811
364 S>T No ClinGen
gnomAD
CA396297571
rs1401310652
365 R>P No ClinGen
gnomAD
rs1410298332
CA396297547
366 R>C No ClinGen
gnomAD
CA8106301
rs781228896
366 R>H No ClinGen
ExAC
gnomAD
rs1244042315
CA396297500
367 S>F No ClinGen
gnomAD
CA396297483
rs1463851556
369 E>K No ClinGen
gnomAD
rs1217158444
CA396297424
371 G>R No ClinGen
gnomAD
rs1459156698
CA396297408
371 G>V No ClinGen
gnomAD
rs1316942614
CA396297392
372 G>D No ClinGen
gnomAD
rs1226200266
CA396297367
373 C>F No ClinGen
gnomAD
CA396297372
rs1226200266
373 C>Y No ClinGen
gnomAD
CA396297341
rs1315387715
374 P>L No ClinGen
gnomAD
rs753857928
CA8106296
375 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs753857928
CA8106295
375 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs753857928
CA282314545
375 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8106294
rs766471183
375 A>V No ClinGen
ExAC
rs1030401479
CA282314528
376 R>H No ClinGen
TOPMed
gnomAD
rs756575045
CA8106293
378 P>R No ClinGen
ExAC
gnomAD
CA396297266
rs1404911569
379 E>G No ClinGen
gnomAD
CA282314515
rs199860700
379 E>K No ClinGen
1000Genomes
CA8106291
rs768121587
381 G>S No ClinGen
ExAC
gnomAD
rs756168034
CA8106270
382 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs767909484
CA8106268
384 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs751818400
CA8106266
385 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA396297015
rs1471348741
387 S>L No ClinGen
TOPMed
gnomAD
CA396296996
rs1367147641
388 P>L No ClinGen
TOPMed
rs764581326
CA8106265
389 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8106264
rs763448887
390 G>R No ClinGen
ExAC
gnomAD
rs1597324123
CA396296937
392 T>P No ClinGen
Ensembl
rs1202888605
CA396296911
394 S>P No ClinGen
gnomAD
rs1324167486
CA396296893
395 T>N No ClinGen
gnomAD
rs1226615994
CA396296879
396 G>A No ClinGen
gnomAD
COSM972363
CA8106263
rs775259952
396 G>S endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs765039105
CA8106262
397 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA396296850
rs1377357629
398 A>V No ClinGen
gnomAD
rs758964283
CA8106261
400 L>R No ClinGen
ExAC
gnomAD
CA8106260
rs776209936
401 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs770716017
CA8106259
402 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1450940515
CA396296767
403 P>L No ClinGen
gnomAD
rs1159287570
CA396296766
404 A>T No ClinGen
TOPMed
gnomAD
rs772953255
CA8106256
406 S>N No ClinGen
ExAC
TOPMed
rs772953255
CA396296694
406 S>T No ClinGen
ExAC
TOPMed
CA396296649
rs1182744774
407 P>L No ClinGen
gnomAD
rs898890195
CA282314116
408 V>E No ClinGen
TOPMed
gnomAD
CA396296642
rs200846612
408 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8106255
rs200846612
408 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396296609
rs1349963338
410 P>L No ClinGen
TOPMed
gnomAD
rs1241350719
CA396296591
411 P>L No ClinGen
gnomAD
rs780244054
COSM972362
CA8106253
413 G>S endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA396296539
rs1197217813
414 L>P No ClinGen
TOPMed
rs201882646
CA8106251
416 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781350701
CA8106250
416 A>V No ClinGen
ExAC
gnomAD
CA282314071
rs371370894
417 S>* No ClinGen
ESP
TOPMed
gnomAD
rs752072735
CA8106249
418 V>L No ClinGen
ExAC
gnomAD
CA8106248
rs752072735
418 V>M No ClinGen
ExAC
gnomAD
CA8106245
rs753177881
419 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs778470352
CA8106247
419 N>Y No ClinGen
ExAC
gnomAD
rs1444990736
CA396296369
422 P>L No ClinGen
TOPMed
CA396296361
rs1162591040
423 T>A No ClinGen
gnomAD
CA8106242
rs753239382
423 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA8106243
rs753239382
423 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs1597323898
CA396296331
424 I>N No ClinGen
Ensembl
rs765946969
CA8106241
COSM194368
424 I>V large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA282314050
rs766460976
425 S>C No ClinGen
Ensembl
CA396296288
rs1190864120
426 V>A No ClinGen
TOPMed
gnomAD
rs1460613314
CA396296303
426 V>M No ClinGen
TOPMed
rs1239139232
CA396296285
427 A>T No ClinGen
gnomAD
rs935687758
CA282314045
429 S>L No ClinGen
TOPMed
gnomAD
rs934284052
CA282314041
430 A>D No ClinGen
TOPMed
rs868061468
CA282314035
431 D>Y No ClinGen
Ensembl
CA8106239
rs773113128
432 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA396296162
rs773113128
432 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA282314030
rs112918660
433 S>F No ClinGen
ExAC
gnomAD
CA8106238
rs112918660
433 S>Y No ClinGen
ExAC
gnomAD
CA8106237
rs761595877
COSM3712063
434 S>R upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs774140986
CA8106236
435 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA396295998
rs1306153599
438 I>T No ClinGen
TOPMed
rs749674590
CA8106201
441 A>T No ClinGen
ExAC
gnomAD
CA396293674
rs904601743
442 R>G No ClinGen
gnomAD
CA8106200
rs779755764
442 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs904601743
CA282312897
442 R>W No ClinGen
gnomAD
CA8106199
rs755729329
443 F>S No ClinGen
ExAC
gnomAD
CA396293499
rs371069606
446 N>K No ClinGen
ESP
ExAC
gnomAD
rs1189975071
CA396293487
447 V>E No ClinGen
TOPMed
CA396293470
rs751453077
448 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA8106196
rs756795171
448 A>T No ClinGen
ExAC
gnomAD
CA8106195
rs751453077
448 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1350943383
CA396293427
449 A>P No ClinGen
gnomAD
CA282312871
rs1041457164
451 E>A No ClinGen
Ensembl
rs199754555
CA8106193
453 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8106192
rs775216754
454 K>Q No ClinGen
ExAC
gnomAD
rs766612246
CA8106191
455 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA396293255
rs1597321403
456 V>G No ClinGen
Ensembl
CA8106190
COSM972359
rs761027309
457 A>V endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8106187
rs748259381
459 A>V No ClinGen
ExAC
gnomAD
rs774862376
CA8106186
460 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA396293191
rs1161926255
460 Q>K No ClinGen
gnomAD
rs576712879
CA8106185
461 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA8106183
rs148095513
462 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749656540
CA8106184
462 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA396293131
rs1214426042
463 A>E No ClinGen
gnomAD
rs1242116105
CA396293139
COSM4141839
463 A>T ovary [Cosmic] No ClinGen
cosmic curated
gnomAD
rs755736544
CA8106182
464 E>D No ClinGen
ExAC
gnomAD
rs568216912
CA8106180
466 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA8106177
rs150240690
468 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs553913184
CA282312777
469 A>T No ClinGen
1000Genomes
gnomAD
CA396292988
rs1269572814
469 A>V No ClinGen
gnomAD
CA396292978
rs1285298373
470 M>L No ClinGen
TOPMed
rs1049360138
CA282312774
471 P>S No ClinGen
TOPMed
gnomAD
rs142023201
CA8106176
472 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1469270049
CA396292902
473 E>D No ClinGen
TOPMed
rs752514725
CA396292890
474 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1424273451
CA396292895
474 A>S No ClinGen
gnomAD
CA8106174
rs752514725
474 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1427155192
CA396292886
475 G>S No ClinGen
TOPMed
gnomAD
rs373548373
CA8106171
COSM1378873
476 G>E large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA396292855
rs1475434302
477 H>R No ClinGen
gnomAD
rs992241696
CA282312735
478 P>S No ClinGen
Ensembl
CA396292750
rs1261228089
480 A>V No ClinGen
gnomAD
CA396292747
rs199614307
481 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754761714
CA8106154
481 R>Q No ClinGen
ExAC
gnomAD
rs199614307
CA8106155
481 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396292682
rs1597320986
485 D>A No ClinGen
Ensembl
rs753689172
CA8106153
485 D>Y No ClinGen
ExAC
gnomAD
rs2271291
CA8106152
486 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396292628
rs1489243436
488 E>G No ClinGen
gnomAD
rs1477247004
CA396292636
488 E>K No ClinGen
TOPMed
rs1299088267
CA396292585
490 A>V No ClinGen
gnomAD
rs1449555008
CA396292531
493 A>V No ClinGen
gnomAD
CA8106151
rs551923090
495 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396292447
rs1597320926
497 Q>* No ClinGen
Ensembl
CA396292428
rs1468795212
497 Q>H No ClinGen
gnomAD
rs77281081
CA396292338
500 A>D No ClinGen
gnomAD
CA282312657
rs77281081
500 A>G No ClinGen
gnomAD
CA396292337
rs77281081
500 A>V No ClinGen
gnomAD
CA282312649
rs764116221
501 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA8106149
rs764116221
501 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1177540851
CA396292304
502 C>R No ClinGen
gnomAD
rs1567387481
CA396292260
503 V>L No ClinGen
Ensembl
CA282312614
rs74771707
506 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs74771707
CA396292141
506 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs74771707
CA8106144
506 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8106145
rs564483976
506 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs770549814
CA8106142
507 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA8106143
rs770549814
507 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs947794746
CA282312609
507 A>S No ClinGen
TOPMed
gnomAD
CA396292113
rs770549814
507 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA396292080
rs1308037833
508 Q>H No ClinGen
gnomAD
rs917660510
CA282312602
508 Q>P No ClinGen
Ensembl
COSM1378871
CA8106140
rs369969027
509 R>* large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA8106141
rs369969027
509 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8106139
rs771435032
509 R>Q No ClinGen
ExAC
gnomAD
CA396292032
rs1567387385
510 S>G No ClinGen
Ensembl
rs373647547
CA8106138
513 P>Q No ClinGen
ESP
ExAC
TOPMed
rs1487661400
CA396291845
515 P>L No ClinGen
TOPMed
CA396291846
rs1336571223
515 P>S No ClinGen
gnomAD
CA396291850
rs1336571223
515 P>T No ClinGen
gnomAD
rs201535041
CA396291743
516 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8106137
rs201535041
516 K>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs147764255
CA8106136
517 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1451042224
CA396291665
518 P>R No ClinGen
gnomAD
rs1055473456
CA282312592
519 L>R No ClinGen
TOPMed
CA8106135
rs753670739
520 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs977646364
CA396291538
521 P>L No ClinGen
Ensembl
rs977646364
CA282312581
521 P>Q No ClinGen
Ensembl
rs202036259
CA8106134
521 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs202036259
CA8106133
521 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA282312575
rs968974323
522 A>G No ClinGen
Ensembl
rs751687594
CA8106132
523 S>R No ClinGen
ExAC
gnomAD
rs764393738
CA8106131
525 K>R No ClinGen
ExAC
gnomAD
rs2271290
CA282312547
527 E>G No ClinGen
Ensembl
rs1445156498
CA396291321
527 E>K No ClinGen
gnomAD
CA396291267
rs1258260730
528 P>L No ClinGen
gnomAD
rs1203436423
CA396291245
529 I>N No ClinGen
gnomAD
CA8106130
rs762878368
531 E>* No ClinGen
ExAC
gnomAD
CA396291113
rs1219077804
532 L>I No ClinGen
gnomAD
rs77958237
CA8106126
533 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs77958237
CA8106127
533 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1247250727
CA396291058
534 T>P No ClinGen
gnomAD
rs1342746927
CA396291008
535 R>C No ClinGen
TOPMed
gnomAD
rs550457905
CA8106125
535 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs550457905
CA396291004
535 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs772681218
CA8106123
538 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA8106122
rs771758797
541 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA282312531
rs1008214080
541 I>V No ClinGen
TOPMed
gnomAD
rs1198047093
CA396290727
542 G>R No ClinGen
TOPMed
CA8106121
rs747604950
543 D>Y No ClinGen
ExAC
rs774059853
CA8106120
548 D>H No ClinGen
ExAC
gnomAD
rs774059853
CA396290464
548 D>N No ClinGen
ExAC
gnomAD
CA396289003
rs1458258190
554 D>H No ClinGen
gnomAD
CA8106118
rs749275536
555 Q>H No ClinGen
ExAC
gnomAD
rs768690449
CA8106119
555 Q>K No ClinGen
ExAC
gnomAD
CA396288953
rs1427926351
556 D>N No ClinGen
TOPMed
gnomAD
CA282312521
rs1025618348
557 M>I No ClinGen
Ensembl
CA8106117
rs780166979
560 V>I No ClinGen
ExAC
gnomAD
rs755811201
CA8106116
561 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs755811201
CA396288811
561 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1291365175
CA396288802
561 E>V No ClinGen
TOPMed
gnomAD
rs745684341
CA8106115
563 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8106114
rs777856944
564 E>V No ClinGen
ExAC
gnomAD
CA282312490
rs752754049
565 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA8106112
rs752754049
565 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA396288703
rs1325297530
565 A>V No ClinGen
gnomAD
CA396288659
rs1387227302
567 K>R No ClinGen
TOPMed
CA396288600
rs1343221621
569 I>N No ClinGen
TOPMed
gnomAD
CA396288596
rs1343221621
569 I>S No ClinGen
TOPMed
gnomAD
CA8106110
rs201097392
571 A>P No ClinGen
1000Genomes
ExAC
gnomAD
CA396288541
rs1392619512
571 A>V No ClinGen
gnomAD
rs911975133
CA282312480
573 S>* No ClinGen
TOPMed
CA8106108
rs766923124
574 P>A No ClinGen
ExAC
gnomAD
rs773691517
CA8106106
575 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8106107
rs760881083
575 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA396288437
rs760881083
575 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs767062511
CA8106105
578 L>P No ClinGen
ExAC
gnomAD
rs761605463
CA8106104
579 L>P No ClinGen
ExAC
gnomAD
rs768237571
CA8106103
580 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs768237571
CA8106102
580 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA8106100
rs527827835
581 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1350744760
CA396288267
582 V>G No ClinGen
TOPMed
rs769839495
CA8106099
583 P>S No ClinGen
ExAC
gnomAD
rs769839495
CA396288256
583 P>T No ClinGen
ExAC
gnomAD
CA396288218
rs1332519767
584 P>L No ClinGen
gnomAD
CA8106098
rs745640879
584 P>S No ClinGen
ExAC
gnomAD
rs748329982
CA396288199
585 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA8106095
rs748329982
585 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA396288189
rs748329982
585 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs758519818
CA8106096
585 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA282312436
rs202100815
586 P>S No ClinGen
1000Genomes
rs1479123697
CA396288042
587 P>R No ClinGen
gnomAD
CA396288053
rs1173323109
587 P>T No ClinGen
gnomAD
rs779130412
CA8106085
588 L>F No ClinGen
ExAC
rs754992774
CA8106082
590 P>L No ClinGen
ExAC
rs1362347590
CA396287868
591 P>L No ClinGen
gnomAD
CA396287822
rs1240518516
592 P>Q No ClinGen
gnomAD
CA396287821
rs1240518516
592 P>R No ClinGen
gnomAD
rs766789787
CA8106080
592 P>S No ClinGen
ExAC
gnomAD
CA8106078
rs750728195
596 G>S No ClinGen
ExAC
gnomAD
rs370608943
CA396287666
597 P>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370608943
CA8106076
597 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396287651
rs1436365704
598 F>L No ClinGen
TOPMed
gnomAD
CA396287605
rs1346641439
599 P>T No ClinGen
gnomAD
CA8106075
rs762296356
603 P>S No ClinGen
ExAC
CA396287413
rs1567386784
604 L>Q No ClinGen
Ensembl
rs762552120
CA8106072
605 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA396287354
rs1333210430
606 L>R No ClinGen
gnomAD
rs775126250
CA8106071
607 A>V No ClinGen
ExAC
gnomAD
rs1243619674
CA396287300
608 A>S No ClinGen
TOPMed
CA396287317
rs1243619674
608 A>T No ClinGen
TOPMed
CA8106069
rs759559297
609 P>L No ClinGen
ExAC
gnomAD
rs759559297
CA8106070
609 P>R No ClinGen
ExAC
gnomAD
rs780261895
CA282312353
609 P>S No ClinGen
gnomAD
rs376217621
CA8106068
610 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396287144
rs1440628827
611 P>L No ClinGen
TOPMed
gnomAD
CA396287152
rs1440628827
611 P>R No ClinGen
TOPMed
gnomAD
rs1567386701
CA396287101
613 S>P No ClinGen
Ensembl
rs1382566437
CA396287077
614 V>M No ClinGen
gnomAD
rs1444556764
CA396287046
615 P>S No ClinGen
TOPMed
gnomAD
rs746821300
CA8106066
616 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA282312335
rs979187926
617 S>R No ClinGen
TOPMed
CA396286949
rs1251011211
618 S>A No ClinGen
TOPMed
rs1210176725
CA396286900
619 A>P No ClinGen
TOPMed
gnomAD
CA396286780
rs1281645618
624 R>G No ClinGen
gnomAD
CA396286578
rs1354082668
631 W>* No ClinGen
gnomAD
CA8106065
rs779039184
631 W>R No ClinGen
ExAC
gnomAD
CA8106064
rs574787945
632 R>C No ClinGen
1000Genomes
ExAC
gnomAD
rs139223474
CA8106063
632 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139223474
CA396286546
632 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396286520
rs1423480466
633 E>G No ClinGen
TOPMed
rs1460949007
CA396286509
634 L>V No ClinGen
TOPMed
rs1284760151
CA396286424
637 A>T No ClinGen
TOPMed
gnomAD
rs1450242086
CA396286408
637 A>V No ClinGen
gnomAD
rs1395080745
CA396286406
638 G>R No ClinGen
TOPMed
CA282312303
rs1056641182
640 H>R No ClinGen
Ensembl
CA282312308
rs866203183
640 H>Y No ClinGen
TOPMed
rs1424477137
CA396286262
644 A>E No ClinGen
gnomAD
rs750899390
CA8106060
644 A>T No ClinGen
ExAC
gnomAD
CA282312280
rs992581861
646 R>C No ClinGen
TOPMed
rs756274113
CA8106059
646 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1473457113
CA396286191
647 F>L No ClinGen
gnomAD
CA396286181
rs1277044423
647 F>S No ClinGen
TOPMed
CA396286099
rs1239878776
650 C>F No ClinGen
TOPMed
gnomAD
CA396286108
rs1239878776
650 C>Y No ClinGen
TOPMed
gnomAD
rs143431266
CA8106057
651 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1216217779
CA396286068
652 T>S No ClinGen
gnomAD
rs763827204
CA8106056
655 A>V No ClinGen
ExAC
gnomAD
rs1200085030
CA396285910
658 D>H No ClinGen
TOPMed
rs752119367
CA8106054
660 V>F No ClinGen
ExAC
gnomAD
rs752119367
CA282312266
660 V>I No ClinGen
ExAC
gnomAD
rs200811858
CA396285760
663 D>H No ClinGen
TOPMed
gnomAD
rs200811858
CA282312261
663 D>N No ClinGen
TOPMed
gnomAD
CA8106052
rs758990957
664 T>A No ClinGen
ExAC
gnomAD
rs139535724
CA8106051
664 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8106048
rs773047427
665 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1404674367
CA396285583
666 R>* No ClinGen
TOPMed
gnomAD
rs768842590
CA8106047
666 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA396285525
rs1262669020
668 E>Q No ClinGen
gnomAD
rs780168242
CA8106045
674 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs769858079
CA8106044
674 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8106043
rs745945448
676 K>R No ClinGen
ExAC
gnomAD
CA8106042
rs146291728
677 E>D No ClinGen
ESP
ExAC
gnomAD
rs1597319535
CA396285156
678 V>G No ClinGen
Ensembl
rs757901504
CA8106041
678 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs751953340
CA8106040
679 L>P No ClinGen
ExAC
gnomAD
CA396285144
rs1383836137
680 P>T No ClinGen
TOPMed
CA396284409
rs1359329177
687 G>D No ClinGen
gnomAD
rs753364765
CA8106016
688 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs765913254
CA8106015
688 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs374165476
CA282311242
689 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370261438
CA282311241
689 R>Q No ClinGen
ESP
TOPMed
gnomAD
rs374165476
CA8106014
689 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8106012
rs767451584
690 T>P No ClinGen
ExAC
gnomAD
rs1325682741
CA396284313
691 M>T No ClinGen
TOPMed
CA396284328
rs1436206199
691 M>V No ClinGen
TOPMed
CA396284264
rs1368245887
692 T>I No ClinGen
TOPMed
CA8106011
rs761598605
693 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs148737699
CA8106009
696 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1353368378
CA396284074
698 K>N No ClinGen
TOPMed
gnomAD
CA8106008
rs759719315
699 R>C No ClinGen
ExAC
gnomAD
rs777028123
CA8106007
699 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA396283912
rs1381198049
701 N>D No ClinGen
gnomAD
rs144361447
CA8106006
701 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773788569
CA8106004
COSM1470824
702 A>T prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA282311201
rs919044428
704 N>D No ClinGen
TOPMed
rs772521918
CA8106003
704 N>I No ClinGen
ExAC
gnomAD
rs919044428
CA282311194
704 N>Y No ClinGen
TOPMed
rs1304159592
CA396283807
705 I>T No ClinGen
gnomAD
CA282311164
rs138444737
706 G>D No ClinGen
ESP
rs372426679
CA8106001
706 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1247336870
CA396283724
710 L>Q No ClinGen
TOPMed
CA396283697
rs1366599306
712 P>L No ClinGen
gnomAD
rs754625636
CA8106000
713 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA8105998
rs779699758
714 H>R No ClinGen
ExAC
CA8105995
rs749936714
718 A>V No ClinGen
ExAC
gnomAD
CA396283398
rs1264229276
719 A>D No ClinGen
TOPMed
gnomAD
CA396283397
rs1264229276
719 A>V No ClinGen
TOPMed
gnomAD
CA396283355
rs1357781614
721 L>P No ClinGen
gnomAD
rs981586641
CA282311127
723 F>C No ClinGen
TOPMed
rs1246179053
CA396283267
723 F>L No ClinGen
gnomAD
rs375932243
CA8105993
726 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396283175
rs1397639242
727 A>P No ClinGen
gnomAD
rs1339421086
CA396283161
728 V>I No ClinGen
gnomAD
CA396283104
rs1298457316
729 S>T No ClinGen
gnomAD
rs1318631643
CA396283040
730 K>N No ClinGen
gnomAD
CA8105992
rs757193319
732 G>A No ClinGen
ExAC
gnomAD
CA396282961
rs868302613
733 I>N No ClinGen
TOPMed
gnomAD
CA282311104
rs868302613
733 I>T No ClinGen
TOPMed
gnomAD
rs751343080
CA8105991
733 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA8105965
rs752607604
739 M>I No ClinGen
ExAC
gnomAD
rs766696745
CA8105964
740 M>R No ClinGen
ExAC
gnomAD
rs766696745
CA396281252
740 M>T No ClinGen
ExAC
gnomAD
CA396281168
rs750497587
742 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs750497587
CA8105962
742 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1567384664
CA396281120
744 E>V No ClinGen
Ensembl
CA8105959
rs774658881
746 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8105960
rs761974488
746 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1245201455
CA396280941
749 I>T No ClinGen
TOPMed
rs1468918530
CA396280850
751 E>D No ClinGen
gnomAD
CA8105957
rs147119985
755 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA282308806
rs941796786
756 N>I No ClinGen
Ensembl
rs775888417
CA8105956
756 N>K No ClinGen
ExAC
gnomAD
rs941796786
CA396280697
756 N>T No ClinGen
Ensembl
rs1445862391
CA396280664
757 P>R No ClinGen
gnomAD
CA8105955
rs769408637
757 P>S No ClinGen
ExAC
gnomAD
CA396280645
rs1597316964
758 D>A No ClinGen
Ensembl
rs763379100
CA282308788
759 I>M No ClinGen
Ensembl
rs147740113
CA8105953
759 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8105952
rs780924011
760 P>S No ClinGen
ExAC
gnomAD
CA8105950
rs746534527
761 L>M No ClinGen
ExAC
gnomAD
CA8105949
rs777568988
761 L>P No ClinGen
ExAC
rs758470004
CA8105948
763 P>L No ClinGen
ExAC
gnomAD
rs778889430
CA8105946
765 E>K No ClinGen
ExAC
gnomAD
CA396280393
rs1276855416
767 F>C No ClinGen
TOPMed
rs1236370540
CA396280398
767 F>L No ClinGen
gnomAD
rs1260651623
CA396280267
773 S>Y No ClinGen
gnomAD
rs750561534
CA8105943
774 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA396280188
rs140802253
776 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8105941
rs140802253
776 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751725905
CA8105940
776 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA396280149
rs1597316830
777 L>P No ClinGen
Ensembl
CA282308678
rs982289513
778 A>T No ClinGen
TOPMed
gnomAD
rs763493505
CA8105938
779 A>T No ClinGen
ExAC
gnomAD
rs776011103
CA8105937
779 A>V No ClinGen
ExAC
gnomAD
CA8105936
rs753143941
780 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs150955613
CA8105934
780 R>H No ClinGen
ESP
TOPMed
rs1163185613
CA396280005
783 L>R No ClinGen
gnomAD
rs372427394
CA8105933
783 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776081875
CA8105932
784 W>* No ClinGen
ExAC
gnomAD
rs1009622266
CA282308655
784 W>G No ClinGen
Ensembl
rs1163307830
CA396279901
788 L>P No ClinGen
gnomAD
CA8105929
rs772829318
793 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1192489419
CA396279761
793 M>V No ClinGen
gnomAD
rs1243623444
CA396279699
794 E>D No ClinGen
gnomAD
rs117880323
CA8105927
795 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8105928
rs772102709
795 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs779945795
CA8105904
800 P>S No ClinGen
ExAC
gnomAD
CA8105901
rs376122137
803 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA282308441
rs376122137
803 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8105900
rs752842034
806 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA8105899
rs752842034
806 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA8105898
rs779379018
809 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8105897
rs755559629
810 Q>H No ClinGen
ExAC
gnomAD
rs1425585929
CA396279168
812 V>I No ClinGen
gnomAD
rs754121800
CA8105896
814 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA396279103
rs1237545557
815 A>T No ClinGen
gnomAD
CA282308419
rs199498142
815 A>V No ClinGen
1000Genomes
CA8105895
rs766724851
817 F>L No ClinGen
ExAC
gnomAD
CA8105894
rs145700198
818 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396279022
rs1254418766
818 R>H No ClinGen
TOPMed
gnomAD
rs750037896
CA8105893
819 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA282308398
rs767135405
824 L>I No ClinGen
Ensembl
CA396278846
rs1238484050
826 A>V No ClinGen
gnomAD
rs542514076
CA8105889
827 V>L No ClinGen
ExAC
gnomAD
CA396278814
rs1391427441
828 G>D No ClinGen
gnomAD
rs1300626192
CA396278735
832 N>S No ClinGen
gnomAD
rs1314062683
CA396278717
833 G>S No ClinGen
TOPMed
CA8105887
rs762986161
834 S>P No ClinGen
ExAC
gnomAD
rs201097013
CA282308310
836 S>N No ClinGen
1000Genomes
CA8105873
rs750881597
837 S>N No ClinGen
ExAC
gnomAD
CA8105872
rs767261910
838 G>D No ClinGen
ExAC
gnomAD
CA396278418
rs1397835458
COSM194367
838 G>S large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs761603743
CA396278398
839 F>C No ClinGen
ExAC
TOPMed
gnomAD
CA8105871
rs761603743
839 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs751080567
CA8105870
840 E>K No ClinGen
ExAC
gnomAD
rs1567383866
CA396278326
842 S>R No ClinGen
Ensembl
CA8105869
rs763613073
845 E>* No ClinGen
ExAC
gnomAD
CA282308281
rs926875447
846 K>E No ClinGen
TOPMed
gnomAD
rs982747750
CA282308275
846 K>M No ClinGen
TOPMed
gnomAD
CA396278227
rs1597316103
846 K>N No ClinGen
Ensembl
rs1191788128
CA396278208
847 V>A No ClinGen
gnomAD
CA396278218
rs1375566713
847 V>M No ClinGen
TOPMed
gnomAD
rs1207298615
CA396278101
850 V>A No ClinGen
gnomAD
rs775435349
CA8105867
850 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA8105866
rs765158746
852 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA8105865
rs759313072
853 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs772252359
CA8105863
855 R>C No ClinGen
ExAC
gnomAD
rs748331837
COSM972358
CA8105862
855 R>H endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs774576031
CA8105861
856 R>* No ClinGen
ExAC
gnomAD
rs528427631
CA8105860
856 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1473529788
CA396277937
860 L>P No ClinGen
TOPMed
rs1473529788
CA396277939
860 L>Q No ClinGen
TOPMed
CA282308229
rs988348329
861 H>R No ClinGen
TOPMed
CA8105857
rs756633530
865 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs746209224
CA8105856
867 V>L No ClinGen
ExAC
gnomAD
CA396277720
rs757725556
869 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1373901784
CA396277732
869 Q>K No ClinGen
gnomAD
rs1195716658
CA396277730
869 Q>R No ClinGen
gnomAD
CA396277716
rs1454851535
870 T>A No ClinGen
gnomAD
CA396277695
rs1458619991
870 T>I No ClinGen
TOPMed
rs916106027
CA282308207
COSM137060
871 R>Q skin [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA8105853
rs117505411
871 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8105852
rs763661503
874 S>F No ClinGen
ExAC
gnomAD
rs953482783
CA282308203
874 S>P No ClinGen
Ensembl
CA623118698
rs1567383605
875 S>* No ClinGen
Ensembl
CA8105851
rs757925016
875 S>F No ClinGen
ExAC
rs1274501740
CA396277581
875 S>T No ClinGen
gnomAD
rs1196254564
CA396277512
877 L>F No ClinGen
gnomAD
rs1316899505
CA396277469
878 Y>C No ClinGen
gnomAD
CA8105850
rs146794927
879 S>L No ClinGen
ESP
ExAC
gnomAD
rs1229291055
CA396277352
882 P>R No ClinGen
gnomAD
CA8105848
rs139818136
886 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8105847
rs377382219
COSM3771985
886 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA396277198
rs1329368084
889 K>* No ClinGen
TOPMed
gnomAD
rs1329368084
CA396277200
889 K>E No ClinGen
TOPMed
gnomAD
CA282307879
rs932053764
890 V>L No ClinGen
TOPMed
gnomAD
rs747381605
CA396276175
891 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs747381605
CA8105816
891 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs778039880
CA8105815
895 L>P No ClinGen
ExAC
gnomAD
CA396276079
rs1354000540
895 L>V No ClinGen
gnomAD
CA8105814
rs150643297
897 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA282307868
rs976040730
897 E>G No ClinGen
TOPMed
gnomAD
CA396276008
rs1597315215
898 N>T No ClinGen
Ensembl
CA396276013
rs1401759543
898 N>Y No ClinGen
gnomAD
CA8105812
rs547019932
900 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs962042374
CA282307857
902 L>M No ClinGen
gnomAD
rs754416899
CA8105811
902 L>P No ClinGen
ExAC
gnomAD
rs1014894880
CA282307847
903 E>D No ClinGen
TOPMed
CA8105810
rs753412615
903 E>K No ClinGen
ExAC
gnomAD
rs779953131
CA8105809
904 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1486481234
CA396275916
904 R>H No ClinGen
TOPMed
gnomAD
rs112730433
CA282307806
905 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8105807
rs112730433
905 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8105808
rs375713096
905 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767173203
CA8105806
906 S>R No ClinGen
ExAC
gnomAD
rs752798062
CA8105804
907 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8105805
rs761688398
907 R>W No ClinGen
ExAC
gnomAD
rs765662304
CA8105803
909 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA396275796
rs1294073309
909 A>V No ClinGen
gnomAD
CA8105801
rs776903658
910 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA396275709
rs1347420143
912 S>G No ClinGen
gnomAD
CA8105797
rs147506405
914 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8105798
rs750103540
914 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA282307747
rs891440219
916 L>F No ClinGen
TOPMed
gnomAD
rs891440219
CA396275574
916 L>F No ClinGen
TOPMed
gnomAD
CA282307743
rs1054133982
917 A>S No ClinGen
Ensembl
CA8105794
rs34590217
918 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs975398430
CA282307729
919 H>Q No ClinGen
TOPMed
gnomAD
rs748769560
CA8105793
921 L>P No ClinGen
ExAC
gnomAD
CA282307725
rs139347380
925 L>V No ClinGen
ESP
TOPMed
rs755679813
CA8105791
926 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8105790
rs750277750
926 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1468026208
CA396275201
928 R>C No ClinGen
gnomAD
rs781200583
CA8105789
COSM1378868
928 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA396275101
rs1397050571
931 H>Y No ClinGen
TOPMed
COSM3782973
rs563505509
CA8105786
932 F>L prostate [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA396275012
rs1272599096
932 F>Y No ClinGen
gnomAD
rs1364539149
CA396274957
934 D>N No ClinGen
gnomAD
CA282307698
rs1030769147
935 Q>* No ClinGen
TOPMed
gnomAD
CA396274881
rs1440812557
935 Q>L No ClinGen
gnomAD
CA282307697
rs981924024
936 C>R No ClinGen
TOPMed
rs1372412602
CA396274840
936 C>S No ClinGen
TOPMed
gnomAD
rs1372412602
CA396274843
936 C>Y No ClinGen
TOPMed
gnomAD
CA396274817
rs1325969837
937 A>V No ClinGen
gnomAD
rs201732128
CA8105785
938 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8105784
rs754148641
938 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8105783
rs766521087
939 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8105782
rs143903337
939 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1189324533
CA396274753
940 V>L No ClinGen
gnomAD
rs768133756
CA8105779
942 M>I No ClinGen
ExAC
gnomAD
rs1253567084
CA396274690
942 M>L No ClinGen
gnomAD
CA8105780
rs773523134
942 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA8105778
rs111846078
944 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774055683
CA282307629
945 I>M No ClinGen
Ensembl
rs976114086
CA282307643
945 I>V No ClinGen
gnomAD
rs768265790
CA8105776
946 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs768265790
CA396274559
946 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA396274537
rs1597314806
947 H>P No ClinGen
Ensembl
CA396274522
rs1444543599
947 H>Q No ClinGen
TOPMed
CA396274505
rs1276907965
948 R>C No ClinGen
gnomAD
rs907847751
CA282307608
948 R>H No ClinGen
gnomAD
CA8105775
rs748898328
949 R>C No ClinGen
ExAC
gnomAD
CA8105773
rs769125781
949 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8105774
rs769125781
949 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA396274375
rs745452115
951 C>* No ClinGen
ExAC
gnomAD
CA396274376
rs1442382673
951 C>F No ClinGen
gnomAD
rs1232294778
CA396273956
960 Y>* No ClinGen
TOPMed
gnomAD
rs766454816
CA282307452
962 G>D No ClinGen
Ensembl
rs764765882
CA8105737
962 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1380335517
CA396273887
964 T>N No ClinGen
TOPMed
gnomAD
rs140269091
CA8105735
965 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773281297
CA8105733
967 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA8105732
rs773281297
967 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs190207170
CA8105731
967 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1469368619
CA396273834
968 A>D No ClinGen
gnomAD
rs778804997
CA8105729
969 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8105728
rs768363225
969 R>H No ClinGen
ExAC
gnomAD
rs746053817
CA8105727
970 E>K No ClinGen
ExAC
gnomAD
rs781283797
CA8105726
971 V>L No ClinGen
ExAC
gnomAD
rs751703092
CA8105724
972 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs138705012
CA8105723
972 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396273767
rs530863029
973 I>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8105722
rs530863029
973 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396273749
rs1307321947
974 M>I No ClinGen
gnomAD
rs367934888
CA8105721
974 M>L No ClinGen
ESP
ExAC
gnomAD
rs763650649
CA282307367
974 M>R No ClinGen
Ensembl
CA396273757
rs367934888
974 M>V No ClinGen
ESP
ExAC
gnomAD
rs144753004
CA8105720
977 C>W No ClinGen
ESP
ExAC
gnomAD
rs759835715
CA8105719
978 H>D No ClinGen
ExAC
gnomAD
CA8105718
rs762980260
978 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA396273720
rs759835715
978 H>Y No ClinGen
ExAC
gnomAD
rs766205021
CA396273697
979 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA8105717
rs766205021
979 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs766205021
CA396273695
979 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA8105715
rs772896045
COSM471932
980 L>P kidney [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA8105713
rs569958308
981 R>P No ClinGen
1000Genomes
ExAC
gnomAD
rs569958308
CA8105714
981 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs200317614
CA8105712
982 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396273626
rs1159569968
984 A>T No ClinGen
TOPMed
CA8105710
rs749039758
984 A>V No ClinGen
ExAC
gnomAD
CA396273600
rs1567382165
986 E>Q No ClinGen
Ensembl
rs373944685
CA8105708
987 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396273579
rs1457644301
987 Y>H No ClinGen
TOPMed
rs747061959
CA8105707
988 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs777791137
CA8105706
989 T>I No ClinGen
ExAC
gnomAD
rs779295641
CA8105703
991 R>Q No ClinGen
ExAC
gnomAD
CA8105704
rs116268850
991 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1193390972
CA396273478
993 R>* No ClinGen
Ensembl
rs1338388632
CA396273476
993 R>Q No ClinGen
TOPMed
gnomAD
CA282307299
rs951567787
996 Q>R No ClinGen
TOPMed
gnomAD
rs766104188
CA8105699
1000 K>M No ClinGen
ExAC
gnomAD
CA8105698
rs755869068
1001 Q>* No ClinGen
ExAC
gnomAD
rs775224846
CA8105697
1002 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs775224846
CA8105696
1002 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA282307248
rs998356242
1004 Y>H No ClinGen
TOPMed
gnomAD
CA8105694
rs769648476
1005 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA282307235
rs769648476
1005 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA282307223
rs1039772478
1005 R>H No ClinGen
TOPMed
gnomAD
rs769648476
CA8105693
1005 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA8105691
rs775305958
1007 R>C No ClinGen
ExAC
gnomAD
CA8105690
rs769610007
1007 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs747184984
CA8105689
1008 N>K No ClinGen
ExAC
gnomAD
rs1567382001
CA396273277
1009 K>Q No ClinGen
Ensembl
CA396273261
rs1436846845
1011 R>Q No ClinGen
gnomAD
CA396273257
rs1249481021
1012 G>R No ClinGen
TOPMed
rs1206941866
CA396273250
1013 R>C No ClinGen
TOPMed
gnomAD
CA8105687
rs773436492
1013 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs772076551
CA8105686
1014 M>T No ClinGen
ExAC
gnomAD
CA8105685
rs559455218
1016 T>S No ClinGen
1000Genomes
ExAC
gnomAD
CA8105683
COSM123170
rs755490026
1017 E>K upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs751257468
CA8105657
1018 T>A No ClinGen
ExAC
gnomAD
CA396273207
rs1245120239
1018 T>I No ClinGen
TOPMed
CA282307097
rs996408352
1019 E>* No ClinGen
gnomAD
rs1447553534
CA8105654
1019 E>D No ClinGen
gnomAD
rs373077110
CA8105656
1019 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373077110
CA282307087
1019 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA282307068
rs990689517
1022 S>* No ClinGen
TOPMed
CA396273182
rs1412104945
1022 S>A No ClinGen
TOPMed
CA282307067
rs867548759
1023 G>D No ClinGen
gnomAD
CA396273175
rs867548759
1023 G>V No ClinGen
gnomAD
CA8105652
rs752564255
1025 A>D No ClinGen
ExAC
gnomAD
CA396273164
rs752564255
1025 A>V No ClinGen
ExAC
gnomAD
CA8105651
rs765229597
1026 G>E No ClinGen
ExAC
rs759317021
CA8105649
1027 E>G No ClinGen
ExAC
gnomAD
rs767751100
CA8105647
1028 A>D No ClinGen
ExAC
TOPMed
rs767751100
CA8105648
1028 A>G No ClinGen
ExAC
TOPMed
rs1432109802
CA396273143
1029 P>L No ClinGen
TOPMed
gnomAD
rs1040516891
CA282307046
1029 P>S No ClinGen
Ensembl
CA396273128
rs1339110864
1031 N>T No ClinGen
TOPMed
rs1383053363
CA396273110
1032 P>L No ClinGen
TOPMed
rs557236288
CA8105645
1032 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA8105644
rs146514223
1034 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA282307031
rs146514223
1034 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA282307018
rs146514223
1034 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763128197
CA396273073
1036 V>I No ClinGen
ExAC
gnomAD
rs763128197
CA8105642
1036 V>L No ClinGen
ExAC
gnomAD
CA396273029
rs1363514595
1037 A>V No ClinGen
TOPMed
CA282306980
rs908962749
1038 V>A No ClinGen
TOPMed
rs886507546
CA282306993
1038 V>L No ClinGen
TOPMed
gnomAD
CA8105641
rs776135636
1040 S>G No ClinGen
ExAC
gnomAD
rs1049123335
CA282306971
1040 S>N No ClinGen
Ensembl
CA282306968
rs546547630
1040 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA8105639
rs577832197
1041 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8105638
rs781372321
1042 P>S No ClinGen
ExAC
gnomAD
rs1253805819
CA396272905
1043 G>D No ClinGen
gnomAD
CA282306959
rs983111425
1043 G>S No ClinGen
TOPMed
CA8105636
rs746584932
1044 R>Q No ClinGen
ExAC
TOPMed
rs373710737
CA8105637
1044 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1374616921
CA396272887
1045 G>V No ClinGen
gnomAD
rs1215538499
CA396272853
1047 A>G No ClinGen
gnomAD
rs1301925038
CA396272816
1049 S>N No ClinGen
TOPMed
gnomAD
rs1231378117
CA396272754
1051 A>D No ClinGen
TOPMed
gnomAD
rs1231378117
CA396272747
1051 A>V No ClinGen
TOPMed
gnomAD
CA8105634
rs757844941
1052 S>N No ClinGen
ExAC
gnomAD
CA396272696
rs1456358265
1053 M>I No ClinGen
TOPMed
rs376653596
CA8105632
1053 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8105633
rs142647972
1053 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396272634
rs1436168158
1056 L>P No ClinGen
TOPMed
gnomAD
rs1395256688
CA396272616
1057 L>P No ClinGen
gnomAD
CA8105631
rs754951818
1058 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA396272595
rs1430735204
1058 T>I No ClinGen
TOPMed
CA396272584
rs1273744400
1059 S>N No ClinGen
TOPMed
rs1365394272
CA396272564
1060 R>K No ClinGen
TOPMed
rs753800789
CA282306926
1061 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs753800789
CA8105630
1061 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1180504194
CA396272524
1062 E>K No ClinGen
gnomAD
rs760527651
CA396272495
1063 D>E No ClinGen
ExAC
gnomAD
CA8105629
rs766037000
1063 D>N No ClinGen
ExAC
gnomAD
CA282306904
rs1018830041
1065 T>I No ClinGen
TOPMed
rs1027949280
CA282306899
1066 H>N No ClinGen
Ensembl
CA396272427
rs1597313264
1067 N>S No ClinGen
Ensembl
rs1007067939
CA282306898
1067 N>Y No ClinGen
TOPMed
gnomAD
CA8105626
rs369591941
1068 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8105625
rs763111646
1068 R>H No ClinGen
ExAC
gnomAD
CA8105624
rs775759444
COSM1252433
1069 R>C oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA8105623
rs145161451
1069 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1210758389
CA396272385
1070 S>G No ClinGen
gnomAD
rs759693508
CA8105602
1073 M>I No ClinGen
ExAC
gnomAD
rs1352014880
CA396272274
1073 M>V No ClinGen
gnomAD
rs777000933
CA8105601
1074 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs375544264
CA8105600
1075 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1224580764
CA396272154
1079 P>R No ClinGen
TOPMed
rs1304538370
CA396272160
1079 P>S No ClinGen
gnomAD
CA282306798
rs555521387
1080 I>T No ClinGen
1000Genomes
TOPMed
rs773670831
CA8105598
1080 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA8105597
rs747207376
1081 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA396272124
rs1459008134
1081 M>T No ClinGen
gnomAD
CA8105596
rs747207376
1081 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA8105595
rs774001965
1084 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1235031666
CA396270321
1087 S>P No ClinGen
TOPMed
rs372458150
CA8105594
1089 A>S No ClinGen
ESP
ExAC
gnomAD
CA282306777
rs994894216
1091 P>S No ClinGen
TOPMed
gnomAD
rs748893339
CA8105593
1092 E>* No ClinGen
ExAC
gnomAD
rs1485847943
CA396270178
1093 E>A No ClinGen
gnomAD
CA8105591
rs756124197
1094 P>L No ClinGen
ExAC
gnomAD
rs202229073
CA8105592
1094 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs570015015
CA8105590
1095 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396270027
rs1436308195
1099 L>* No ClinGen
gnomAD
CA282306754
rs771797116
1100 P>S No ClinGen
Ensembl
CA396269993
rs1425963581
1101 S>G No ClinGen
TOPMed
CA8105589
rs781092903
1101 S>T No ClinGen
ExAC
gnomAD
CA396269904
rs1232404830
1103 T>I No ClinGen
gnomAD
CA396269829
rs1369814018
1106 E>G No ClinGen
TOPMed
rs1380453437
CA396269810
1107 I>V No ClinGen
gnomAD
CA8105588
rs757132766
1108 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA396269759
rs1321235583
1109 D>N No ClinGen
gnomAD
CA8105587
rs752899995
1110 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA8105585
rs755096285
1111 L>P No ClinGen
ExAC
gnomAD
rs754002414
CA8105584
1114 S>* No ClinGen
ExAC
gnomAD
rs761208251
CA8105582
1117 K>N No ClinGen
ExAC
gnomAD
rs1428384716
CA396269472
1118 S>R No ClinGen
gnomAD
rs1283776200
CA396269435
1119 S>R No ClinGen
TOPMed
CA396269424
rs1391333943
1120 P>S No ClinGen
TOPMed
gnomAD
CA396269431
rs1391333943
1120 P>T No ClinGen
TOPMed
gnomAD
CA396269414
rs1260057612
1121 R>C No ClinGen
TOPMed
rs551708643
CA8105580
1121 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396269383
rs1465882587
1123 L>S No ClinGen
gnomAD
CA282306679
rs941911219
1125 A>T No ClinGen
TOPMed
CA396269332
rs1212648190
1126 R>G No ClinGen
TOPMed
gnomAD
rs767808985
CA8105579
1128 R>H No ClinGen
ExAC
gnomAD
rs1224984485
CA396269249
1129 K>E No ClinGen
TOPMed
gnomAD
CA8105576
rs539707576
1130 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM4141838
rs762346925
CA8105575
1130 R>H ovary [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs775105803
CA8105574
1132 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs775105803
CA396269165
1132 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8105573
rs777850281
1132 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1052999923
CA282306622
1133 G>D No ClinGen
gnomAD
COSM1235627
rs758366092
CA8105571
1133 G>S haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1052999923
CA396269135
1133 G>V No ClinGen
gnomAD
COSM972354
rs770847586
CA8105570
1135 R>C endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs746859450
CA8105569
1135 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA396269092
rs746859450
1135 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA396269047
rs1257374208
1137 S>P No ClinGen
TOPMed
gnomAD
CA8105558
rs763703372
1140 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA8105557
rs762626115
1141 T>M No ClinGen
ExAC
gnomAD
rs1466130979
CA396268722
1144 S>R No ClinGen
gnomAD
rs1247054323
CA396268700
1145 G>A No ClinGen
TOPMed
rs376778624
CA8105552
1147 G>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8105553
rs376778624
1147 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8105551
rs771041970
1148 D>N No ClinGen
ExAC
gnomAD
CA396268594
rs1239796547
1149 D>E No ClinGen
TOPMed
gnomAD
CA8105550
rs746773202
1150 L>V No ClinGen
ExAC
gnomAD
rs777674042
CA8105549
1153 A>V No ClinGen
ExAC
gnomAD
rs144815381
CA8105548
1154 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8105547
rs749473379
1154 L>P No ClinGen
ExAC
gnomAD
CA396268456
rs1201063436
1155 G>E No ClinGen
gnomAD
rs750557765
CA8105544
1157 S>G No ClinGen
ExAC
gnomAD
CA8105543
rs750557765
1157 S>R No ClinGen
ExAC
gnomAD
rs781646540
CA8105542
1158 K>R No ClinGen
ExAC
gnomAD
CA396268334
rs1408075460
1160 P>T No ClinGen
TOPMed
rs757800624
CA8105541
1161 G>S No ClinGen
ExAC
gnomAD
rs752089928
CA8105540
1164 V>A No ClinGen
ExAC
gnomAD
CA396268226
rs1337583326
1164 V>M No ClinGen
TOPMed

No associated diseases with Q9Y613

2 regional properties for Q9Y613

Type Name Position InterPro Accession
domain SUN domain 555 - 716 IPR012919
domain SUN coiled coil domain 2 481 - 538 IPR040994

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Cytoplasm, cytoskeleton
  • Cell projection, bleb
  • Predominantly cytoplasmic
PANTHER Family PTHR45920 FORMIN HOMOLOGY 2 DOMAIN CONTAINING, ISOFORM I
PANTHER Subfamily PTHR45920:SF2 FH1_FH2 DOMAIN-CONTAINING PROTEIN 1
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
bleb A cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Blebs are formed during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. [GOC:mtg_apoptosis, PMID:12083798, PMID:16624291, Wikipedia:Bleb_(cell_biology)]
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intercalated disc A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells.
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.

4 GO annotations of molecular function

Name Definition
actin filament binding Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
identical protein binding Binding to an identical protein or proteins.
protein domain specific binding Binding to a specific domain of a protein.
protein self-association Binding to a domain within the same polypeptide.

7 GO annotations of biological process

Name Definition
actin filament network formation The assembly of a network of actin filaments; actin filaments on different axes and with differing orientations are crosslinked together to form a mesh of filaments.
cortical actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane.
establishment of centrosome localization The directed movement of the centrosome to a specific location.
nuclear migration The directed movement of the nucleus to a specific location within a cell.
positive regulation of stress fiber assembly Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
regulation of stress fiber assembly Any process that modulates the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2V2M9 FHOD3 FH1/FH2 domain-containing protein 3 Homo sapiens (Human) SS
Q76LL6 Fhod3 FH1/FH2 domain-containing protein 3 Mus musculus (Mouse) SS
Q6P9Q4 Fhod1 FH1/FH2 domain-containing protein 1 Mus musculus (Mouse) SS
10 20 30 40 50 60
MAGGEDRGDG EPVSVVTVRV QYLEDTDPFA CANFPEPRRA PTCSLDGALP LGAQIPAVHR
70 80 90 100 110 120
LLGAPLKLED CALQVSPSGY YLDTELSLEE QREMLEGFYE EISKGRKPTL ILRTQLSVRV
130 140 150 160 170 180
NAILEKLYSS SGPELRRSLF SLKQIFQEDK DLVPEFVHSE GLSCLIRVGA AADHNYQSYI
190 200 210 220 230 240
LRALGQLMLF VDGMLGVVAH SDTIQWLYTL CASLSRLVVK TALKLLLVFV EYSENNAPLF
250 260 270 280 290 300
IRAVNSVAST TGAPPWANLV SILEEKNGAD PELLVYTVTL INKTLAALPD QDSFYDVTDA
310 320 330 340 350 360
LEQQGMEALV QRHLGTAGTD VDLRTQLVLY ENALKLEDGD IEEAPGAGGR RERRKPSSEE
370 380 390 400 410 420
GKRSRRSLEG GGCPARAPEP GPTGPASPVG PTSSTGPALL TGPASSPVGP PSGLQASVNL
430 440 450 460 470 480
FPTISVAPSA DTSSERSIYK ARFLENVAAA ETEKQVALAQ GRAETLAGAM PNEAGGHPDA
490 500 510 520 530 540
RQLWDSPETA PAARTPQSPA PCVLLRAQRS LAPEPKEPLI PASPKAEPIW ELPTRAPRLS
550 560 570 580 590 600
IGDLDFSDLG EDEDQDMLNV ESVEAGKDIP APSPPLPLLS GVPPPPPLPP PPPIKGPFPP
610 620 630 640 650 660
PPPLPLAAPL PHSVPDSSAL PTKRKTVKLF WRELKLAGGH GVSASRFGPC ATLWASLDPV
670 680 690 700 710 720
SVDTARLEHL FESRAKEVLP SKKAGEGRRT MTTVLDPKRS NAINIGLTTL PPVHVIKAAL
730 740 750 760 770 780
LNFDEFAVSK DGIEKLLTMM PTEEERQKIE EAQLANPDIP LGPAENFLMT LASIGGLAAR
790 800 810 820 830 840
LQLWAFKLDY DSMEREIAEP LFDLKVGMEQ LVQNATFRCI LATLLAVGNF LNGSQSSGFE
850 860 870 880 890 900
LSYLEKVSEV KDTVRRQSLL HHLCSLVLQT RPESSDLYSE IPALTRCAKV DFEQLTENLG
910 920 930 940 950 960
QLERRSRAAE ESLRSLAKHE LAPALRARLT HFLDQCARRV AMLRIVHRRV CNRFHAFLLY
970 980 990 1000 1010 1020
LGYTPQAARE VRIMQFCHTL REFALEYRTC RERVLQQQQK QATYRERNKT RGRMITETEK
1030 1040 1050 1060 1070 1080
FSGVAGEAPS NPSVPVAVSS GPGRGDADSH ASMKSLLTSR PEDTTHNRRS RGMVQSSSPI
1090 1100 1110 1120 1130 1140
MPTVGPSTAS PEEPPGSSLP SDTSDEIMDL LVQSVTKSSP RALAARERKR SRGNRKSLRR
1150 1160
TLKSGLGDDL VQALGLSKGP GLEV