Q9Y4D1
EV
Gene name |
DAAM1 (KIAA0666) |
Protein name |
Disheveled-associated activator of morphogenesis 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23002 |
EC number |
|
Protein Class |
FORMIN HOMOLOGY 2 FAMILY MEMBER (PTHR45725) |
Descriptions
Diaphanous-related formins (DRFs), such as DAAM1 and mDia1, play central roles in actin dynamics through assembling linear actin filaments. The amino-terminal diaphanous inhibitory domain (DID) and the carboxyl-terminal diaphanous autoinhibitory domain (DAD) segment form an intramolecular interaction to restrain the actin assembly activity of FH1-FH2 domains. This autoinhibition is disrupted by Rho GTPase that is able to bind to the GTPase-binding domain (GBD) near DID domain.
Autoinhibitory domains (AIDs)
Target domain |
41-477 (DID domain) |
Relief mechanism |
Partner binding |
Assay |
Split protein assay, Mutagenesis experiment |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q9Y4D1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2J1D | X-ray | 255 A | G | 596-1078 | PDB |
| 2Z6E | X-ray | 280 A | A/B/C/D | 594-1012 | PDB |
| AF-Q9Y4D1-F1 | Predicted | AlphaFoldDB |
705 variants for Q9Y4D1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs751022396 CA7207114 |
2 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1280770474 CA390059791 |
3 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA262104546 rs1051918484 |
5 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1051918484 CA390059802 |
5 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7207116 rs780929063 |
5 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs749698227 CA7207117 |
7 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA390059822 rs1455635429 |
8 | G>R | No |
ClinGen TOPMed |
|
|
rs1210216000 CA390059827 |
9 | R>* | No |
ClinGen gnomAD |
|
|
CA7207118 rs757642088 |
9 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA390059835 rs1423013381 |
10 | G>V | No |
ClinGen gnomAD |
|
|
rs779396128 CA7207119 |
11 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs561349168 CA262104548 |
13 | F>I | No |
ClinGen 1000Genomes |
|
|
CA7207120 rs746424324 |
13 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1473098545 CA390059862 |
15 | F>L | No |
ClinGen gnomAD |
|
|
rs1179200908 CA390059880 |
17 | C>F | No |
ClinGen TOPMed |
|
|
CA390059890 rs1418209903 |
18 | F>C | No |
ClinGen TOPMed |
|
|
rs772452537 CA390059896 |
19 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs772452537 CA7207121 |
19 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA390059909 rs1257601377 |
21 | N>S | No |
ClinGen TOPMed |
|
|
CA390059927 rs769974748 |
23 | H>Q | No |
ClinGen TOPMed |
|
|
CA390059935 rs530301215 |
25 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7207123 rs530301215 |
25 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390059952 rs564042647 |
27 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207124 rs564042647 |
27 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207127 rs765058061 |
29 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7207126 rs755736083 |
29 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326455048 CA390059969 |
30 | L>P | No |
ClinGen gnomAD |
|
|
rs763008674 CA390059970 |
31 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207129 rs763008674 |
31 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207130 rs766173968 |
31 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594786653 CA390059978 |
32 | N>K | No |
ClinGen Ensembl |
|
|
CA262104550 rs548877215 |
32 | N>S | No |
ClinGen 1000Genomes |
|
|
CA390059980 rs1198466623 |
33 | D>N | No |
ClinGen gnomAD |
|
|
CA7207131 rs751089659 |
34 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA390060000 rs1335815010 |
35 | N>S | No |
ClinGen TOPMed |
|
|
rs1051363978 CA262104551 |
36 | F>C | No |
ClinGen Ensembl |
|
|
CA390060004 rs754403421 |
36 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207132 rs754403421 |
36 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207133 rs767296656 |
37 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390060018 rs1319522334 |
38 | L>P | No |
ClinGen TOPMed |
|
|
rs755794892 CA7207135 |
39 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7207136 rs779485270 |
40 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7207138 rs758957743 |
41 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs532378217 CA262104552 |
43 | P>L | No |
ClinGen Ensembl |
|
|
CA390060050 rs1304895856 |
43 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1304895856 CA390060048 |
43 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs780357372 CA7207139 |
44 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166671363 CA390060078 |
47 | M>I | No |
ClinGen TOPMed |
|
|
CA7207140 rs747136110 |
47 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768773077 CA7207141 |
48 | P>H | No |
ClinGen ExAC TOPMed |
|
|
rs1006931444 CA262104553 |
48 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1193780289 CA390060084 |
49 | P>A | No |
ClinGen TOPMed |
|
|
rs1193780289 CA390060085 |
49 | P>S | No |
ClinGen TOPMed |
|
|
CA262104554 rs903813330 |
50 | V>L | No |
ClinGen gnomAD |
|
|
rs1230615771 CA390060106 |
52 | E>G | No |
ClinGen gnomAD |
|
|
rs1257466580 CA390060132 |
56 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA262104555 rs546224295 |
56 | M>T | No |
ClinGen gnomAD |
|
|
rs1257466580 CA390060134 |
56 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390060165 rs1204243360 |
58 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs748438089 CA7207143 |
61 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7207172 rs775151779 |
62 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA389872767 rs1594803420 |
65 | D>A | No |
ClinGen Ensembl |
|
|
rs763838613 CA7207174 |
66 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1376814098 CA389872892 |
68 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs753483080 CA7207175 |
68 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs151102299 CA7207176 |
71 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389872996 rs1293908104 |
72 | E>K | No |
ClinGen gnomAD |
|
|
CA389873063 rs1328560487 |
74 | M>T | No |
ClinGen gnomAD |
|
|
rs766722406 CA7207177 |
75 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA389873120 rs140188690 |
75 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1447834936 CA389873127 |
76 | A>T | No |
ClinGen gnomAD |
|
|
CA7207178 rs751940752 |
78 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA389873180 rs751940752 |
78 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs755491765 CA7207179 |
81 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA7207180 rs781615109 |
86 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA261652703 rs150333289 |
87 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7207181 rs150333289 |
87 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7207182 rs756141604 |
87 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1409652518 CA389873456 |
91 | K>R | No |
ClinGen gnomAD |
|
|
CA7207206 rs562858963 |
96 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs202102020 CA261665644 |
96 | N>S | No |
ClinGen 1000Genomes |
|
|
rs779964021 CA7207207 |
99 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1244583324 CA389879289 |
100 | T>A | No |
ClinGen gnomAD |
|
|
CA389879298 rs1169585468 |
100 | T>I | No |
ClinGen TOPMed |
|
|
CA389879318 rs1455327776 |
101 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA389879337 rs1594816909 |
102 | W>C | No |
ClinGen Ensembl |
|
|
CA389879331 rs1193969863 |
102 | W>S | No |
ClinGen gnomAD |
|
|
CA7207208 rs747010561 |
104 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA389879398 rs1555362467 |
106 | Y>* | No |
ClinGen Ensembl |
|
|
rs757913382 CA261665693 |
108 | D>V | No |
ClinGen Ensembl |
|
|
rs376663825 CA7207209 |
109 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7207210 rs137885901 |
109 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376663825 CA389879431 |
109 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367682829 CA7207211 |
111 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1455471949 CA389880588 |
118 | S>C | No |
ClinGen TOPMed |
|
|
rs1455471949 CA389880589 |
118 | S>F | No |
ClinGen TOPMed |
|
|
rs141935137 CA7207227 |
125 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs891275772 CA261672448 |
131 | S>C | No |
ClinGen Ensembl |
|
|
CA389880778 rs1386779042 |
131 | S>R | No |
ClinGen gnomAD |
|
|
rs1340336596 CA389880815 |
134 | I>T | No |
ClinGen gnomAD |
|
|
RCV001262918 CA7207230 rs145787738 |
134 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA389880844 rs1243265530 |
136 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1485517847 CA389880923 |
141 | L>R | No |
ClinGen TOPMed |
|
|
CA389880940 rs1233415872 |
143 | T>A | No |
ClinGen gnomAD |
|
|
CA389880948 rs1267063330 |
143 | T>K | No |
ClinGen gnomAD |
|
|
CA389880946 rs1267063330 |
143 | T>R | No |
ClinGen gnomAD |
|
|
CA7207232 rs781146982 |
144 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7207233 rs747637574 |
146 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA389881160 rs1466518242 |
150 | T>A | No |
ClinGen TOPMed |
|
|
CA389881181 rs1485972761 |
153 | I>V | No |
ClinGen gnomAD |
|
|
rs372804956 CA7207260 |
154 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7207261 rs756037306 |
156 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs991000995 CA389881201 |
156 | D>N | No |
ClinGen gnomAD |
|
|
rs991000995 CA261674108 |
156 | D>Y | No |
ClinGen gnomAD |
|
|
CA389881210 rs1300155953 |
157 | G>D | No |
ClinGen gnomAD |
|
|
CA389881209 rs1377330517 |
157 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389881216 rs1252895252 |
158 | L>P | No |
ClinGen TOPMed |
|
|
rs1351369147 CA389881219 |
159 | S>P | No |
ClinGen gnomAD |
|
|
rs770572293 CA7207264 |
160 | C>R | No |
ClinGen ExAC |
|
|
CA389881234 rs1482161359 |
161 | I>S | No |
ClinGen TOPMed |
|
|
rs778495301 CA7207265 |
161 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs138885144 CA389881249 |
163 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389881256 rs1370533873 |
164 | F>S | No |
ClinGen gnomAD |
|
|
rs776830715 CA7207268 |
167 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290539512 CA389881283 |
168 | M>I | No |
ClinGen TOPMed |
|
|
rs375808320 CA7207269 |
168 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770367484 CA7207270 |
169 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7207271 rs149324121 |
171 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761811745 CA7207273 |
176 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207274 rs751860849 |
177 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207275 rs372952716 |
181 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1170736451 CA389881438 |
182 | I>T | No |
ClinGen TOPMed |
|
|
rs199730602 CA7207278 |
187 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA389881628 rs1449311570 |
191 | N>S | No |
ClinGen gnomAD |
|
|
CA7207280 rs753375909 |
195 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778262988 CA389882994 |
197 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA389882992 rs1251290467 |
197 | H>R | No |
ClinGen TOPMed |
|
|
rs756705889 CA7207281 |
197 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1389496704 CA389882996 |
198 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA389883015 rs1305266106 |
201 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7207284 rs771611001 |
203 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA389883047 rs1227450416 |
205 | I>T | No |
ClinGen gnomAD |
|
|
CA7207285 rs781630768 |
209 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7207286 rs748395859 |
209 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7207288 rs773808956 |
216 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389883128 rs1215783361 |
217 | I>T | No |
ClinGen gnomAD |
|
|
CA389883143 rs879260041 |
219 | T>M | No |
ClinGen gnomAD |
|
|
rs879260041 CA261674272 |
219 | T>R | No |
ClinGen gnomAD |
|
|
CA389883150 rs771178796 |
220 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759856885 CA7207292 |
223 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389883204 rs1566703084 |
229 | A>T | No |
ClinGen Ensembl |
|
|
rs969334442 CA261674286 |
230 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs564090602 CA7207297 |
230 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866648375 CA261674290 |
232 | L>P | No |
ClinGen Ensembl |
|
|
CA261674312 rs946478824 |
235 | G>R | No |
ClinGen TOPMed |
|
|
CA7207302 rs201077027 |
237 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748543467 CA7207303 |
238 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs756593611 CA7207304 |
239 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA389883272 rs1214017374 |
240 | V>G | No |
ClinGen gnomAD |
|
|
rs1181775395 CA389883283 |
242 | Q>R | No |
ClinGen gnomAD |
|
|
CA389883329 rs1473924111 |
245 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA389883352 rs1164038537 |
246 | H>Q | No |
ClinGen TOPMed |
|
|
CA261674349 rs902156580 |
248 | Q>E | No |
ClinGen gnomAD |
|
|
CA389883377 rs902156580 |
248 | Q>K | No |
ClinGen gnomAD |
|
|
rs774506910 CA7207308 |
248 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1156588466 CA389883409 |
249 | K>R | No |
ClinGen gnomAD |
|
|
rs1003237514 CA261674353 |
250 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs141883625 CA7207310 |
252 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7207312 rs567041153 |
253 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7207311 rs567041153 |
253 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1372787610 CA389883523 |
256 | R>C | No |
ClinGen gnomAD |
|
|
rs1222275168 CA389883524 |
256 | R>H | No |
ClinGen gnomAD |
|
|
CA7207314 rs776405966 |
257 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA7207332 rs768852754 |
259 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207335 rs769792184 |
261 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207337 rs199594208 |
262 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765869254 CA7207338 |
263 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA389883795 rs1404199086 |
265 | D>G | No |
ClinGen TOPMed |
|
|
CA389883788 rs1395730969 |
265 | D>H | No |
ClinGen gnomAD |
|
|
CA7207339 rs751097009 |
266 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207340 rs561542008 |
267 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389883847 rs1594822967 |
268 | T>S | No |
ClinGen Ensembl |
|
|
CA7207342 rs754289580 |
270 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207341 rs767216734 |
270 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA261675003 rs559321304 |
271 | Y>C | No |
ClinGen TOPMed |
|
|
rs559321304 CA389883883 |
271 | Y>F | No |
ClinGen TOPMed |
|
|
rs1363304739 CA389883894 |
272 | R>* | No |
ClinGen TOPMed |
|
|
CA7207344 rs779316777 |
272 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207346 rs758941090 |
275 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207345 rs750934669 |
275 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs780165409 CA7207347 |
276 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389883963 rs1278602119 |
277 | L>V | No |
ClinGen gnomAD |
|
|
rs747025127 CA7207348 |
278 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207350 rs781341058 |
288 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7207351 rs748378264 |
295 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA261675015 rs909431529 |
295 | V>L | No |
ClinGen Ensembl |
|
|
CA389884245 rs909431529 |
295 | V>M | No |
ClinGen Ensembl |
|
|
rs1011536299 CA261675119 |
296 | E>Q | No |
ClinGen Ensembl |
|
|
CA389884510 rs1326493751 |
302 | L>F | No |
ClinGen Ensembl |
|
|
rs150648068 CA261675120 |
305 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA261675121 rs1022053558 |
305 | R>H | No |
ClinGen gnomAD |
|
|
rs781215515 CA7207368 |
315 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781215515 CA389884837 |
315 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140088700 CA7207367 |
315 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7207369 rs748383513 |
316 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs777438140 CA7207371 |
317 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7207370 rs756342829 |
317 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389884903 rs1250329607 |
318 | D>E | No |
ClinGen TOPMed |
|
|
CA389884898 rs1356905665 |
318 | D>G | No |
ClinGen gnomAD |
|
|
rs1594823228 CA389884959 |
322 | E>Q | No |
ClinGen Ensembl |
|
|
CA389884983 rs371132871 |
323 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA261675150 rs999849152 |
323 | H>R | No |
ClinGen gnomAD |
|
|
CA7207372 rs749049016 |
323 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7207374 rs774385213 |
326 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286599114 CA389885032 |
327 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1485317560 CA389885038 |
327 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1375078529 CA389885767 |
332 | L>V | No |
ClinGen TOPMed |
|
|
CA389885797 rs1194880993 |
333 | D>E | No |
ClinGen TOPMed |
|
|
CA7207390 rs757169885 |
334 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61755339 CA7207391 |
339 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389885980 rs1566704590 |
343 | E>K | No |
ClinGen Ensembl |
|
|
CA7207393 rs772123336 |
344 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs774875568 CA7207394 |
345 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs868408357 CA261675920 |
347 | A>D | No |
ClinGen Ensembl |
|
|
rs768214100 CA7207396 |
348 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7207397 rs776393226 |
348 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7207411 rs778911787 |
358 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA389886262 rs1443596837 |
362 | Q>* | No |
ClinGen TOPMed |
|
|
CA389886276 rs1356769377 |
362 | Q>H | No |
ClinGen TOPMed |
|
|
rs1170906933 CA389886281 |
363 | M>V | No |
ClinGen gnomAD |
|
|
CA389886380 rs1566704747 |
369 | K>E | No |
ClinGen Ensembl |
|
|
rs1327681879 CA389886423 |
371 | L>Q | No |
ClinGen gnomAD |
|
|
rs746897793 CA7207415 |
372 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs780561755 CA7207417 |
379 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7207418 rs372177594 |
381 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769376137 CA7207419 |
381 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs372177594 CA389886525 |
381 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389886567 rs1272738128 |
387 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA389886565 rs1272738128 |
387 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389886581 rs1332994082 |
389 | Q>* | No |
ClinGen gnomAD |
|
|
CA389886601 rs1190100421 |
391 | P>L | No |
ClinGen TOPMed |
|
|
CA7207442 rs769463822 |
394 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs369360632 CA7207443 |
395 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414127619 CA389886645 |
396 | G>D | No |
ClinGen gnomAD |
|
|
rs748920761 CA7207444 |
396 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs887572661 CA261676571 |
398 | T>S | No |
ClinGen TOPMed |
|
|
CA7207447 rs139756687 |
400 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA261676575 rs150072573 |
401 | Y>C | No |
ClinGen ESP |
|
|
CA7207448 rs768988634 |
401 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs761945053 CA7207450 |
404 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA389886708 rs1197660018 |
406 | D>G | No |
ClinGen TOPMed |
|
|
CA7207451 rs765384602 |
407 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA389886726 rs192299759 |
409 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7207452 rs192299759 |
409 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs919136078 CA261676608 |
414 | I>T | No |
ClinGen TOPMed |
|
|
CA389886772 rs1372898831 |
415 | Q>H | No |
ClinGen gnomAD |
|
|
CA389886769 rs1330508990 |
415 | Q>P | No |
ClinGen TOPMed |
|
|
CA389886770 rs1330508990 |
415 | Q>R | No |
ClinGen TOPMed |
|
|
rs763079479 CA7207453 |
416 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311917758 CA389886777 |
416 | N>S | No |
ClinGen gnomAD |
|
|
rs751251823 CA389886818 |
421 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754945270 CA7207456 |
423 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207457 rs767398359 |
426 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389886869 rs1408529015 |
429 | N>I | No |
ClinGen TOPMed |
|
|
rs1237650469 CA389886905 |
434 | N>D | No |
ClinGen gnomAD |
|
|
rs145334981 CA7207459 |
436 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145334981 CA7207460 |
436 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749038803 CA389886924 |
437 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207461 rs749038803 |
437 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389886928 rs1440146519 |
438 | M>K | No |
ClinGen gnomAD |
|
|
CA7207478 rs763654396 |
442 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1476564337 CA389887151 |
447 | Q>H | No |
ClinGen TOPMed |
|
|
CA7207480 rs753231294 |
447 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1261755495 CA389887162 |
448 | W>* | No |
ClinGen TOPMed |
|
|
rs1223177938 CA389887184 |
449 | K>R | No |
ClinGen TOPMed |
|
|
rs1401344690 CA389887233 |
452 | A>T | No |
ClinGen gnomAD |
|
|
CA7207482 rs564370590 |
452 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389887268 rs1208987713 |
454 | K>E | No |
ClinGen TOPMed |
|
|
CA261679269 rs948182628 |
459 | H>Y | No |
ClinGen Ensembl |
|
|
CA389887609 rs1288975851 |
460 | N>D | No |
ClinGen TOPMed |
|
|
CA389887636 rs941884 |
463 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs191537212 CA7207509 |
465 | K>Q | No |
ClinGen 1000Genomes ExAC |
|
|
CA7207510 rs746151084 |
467 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389887668 rs1370462045 |
468 | K>R | No |
ClinGen gnomAD |
|
|
CA7207511 rs772227901 |
470 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760422783 CA7207513 |
472 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7207514 rs768605344 |
472 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA389887727 rs1299398798 |
476 | K>N | No |
ClinGen gnomAD |
|
|
CA389887738 rs1456898866 |
478 | Q>R | No |
ClinGen TOPMed |
|
|
CA7207515 rs776482940 |
483 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs764710432 CA7207517 |
484 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7207516 rs761804875 |
484 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7207518 rs376568708 |
485 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1061288 CA261679327 |
488 | N>K | No |
ClinGen Ensembl |
|
|
CA7207519 rs762698761 |
494 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1351323976 CA389887893 |
499 | T>A | No |
ClinGen gnomAD |
|
|
rs1417757937 CA389887898 |
500 | E>K | No |
ClinGen TOPMed |
|
|
rs1242212468 CA389887909 |
501 | H>R | No |
ClinGen gnomAD |
|
|
rs1286715057 CA389887924 |
503 | Q>* | No |
ClinGen gnomAD |
|
|
rs1166368256 CA389887932 |
504 | V>F | No |
ClinGen TOPMed |
|
|
CA389887957 rs1198820698 |
507 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs753130754 CA7207521 |
509 | A>V | No |
ClinGen ExAC |
|
|
CA389887999 rs1181444131 |
514 | Q>* | No |
ClinGen gnomAD |
|
|
rs750764545 CA261679357 |
517 | E>K | No |
ClinGen Ensembl |
|
|
CA389888029 rs1205088154 |
518 | L>H | No |
ClinGen TOPMed |
|
|
CA7207542 rs764427002 |
521 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754176163 CA7207543 |
522 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7207544 rs754176163 |
522 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1370062688 CA389888160 |
523 | V>D | No |
ClinGen gnomAD |
|
|
rs750525026 CA389888157 |
523 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207546 rs750525026 |
523 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207548 rs780077521 |
524 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA7207547 rs145716225 |
524 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs951757010 CA261679793 |
525 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs747287197 CA7207549 |
527 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs536191931 CA7207550 |
529 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs536191931 CA7207551 |
529 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7207553 rs769637192 |
530 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs747934702 CA7207552 |
530 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7207554 rs773326713 |
531 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186761220 CA7207556 |
532 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759125985 CA7207558 |
535 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA261679905 rs878938548 |
537 | G>R | No |
ClinGen Ensembl |
|
|
CA389888907 rs1192330672 |
537 | G>V | No |
ClinGen gnomAD |
|
|
rs776894907 CA7207560 |
538 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171020803 CA389888916 |
539 | P>R | No |
ClinGen gnomAD |
|
|
CA389888929 rs1594828924 |
541 | P>L | No |
ClinGen Ensembl |
|
|
rs762190571 CA7207561 |
541 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs750970445 CA7207563 |
544 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA389888959 rs1313760049 |
546 | G>A | No |
ClinGen TOPMed |
|
|
CA389888966 rs1381658056 |
547 | S>F | No |
ClinGen gnomAD |
|
|
CA389888971 rs1256719471 |
548 | L>P | No |
ClinGen gnomAD |
|
|
rs1416356732 CA389888975 |
549 | L>F | No |
ClinGen TOPMed |
|
|
rs1566707865 CA389888981 |
550 | P>S | No |
ClinGen Ensembl |
|
|
rs1566707873 CA389888987 |
551 | P>S | No |
ClinGen Ensembl |
|
|
rs766459608 CA7207566 |
552 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207567 rs751570137 |
554 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA261679945 rs751570137 |
554 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207570 rs368794329 |
557 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389889019 rs35271309 |
557 | L>V | No |
ClinGen gnomAD |
|
|
rs1443782606 CA389889027 |
558 | P>L | No |
ClinGen TOPMed |
|
|
rs749293945 CA261679966 |
559 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777704615 CA7207572 |
559 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs749293945 CA7207573 |
559 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166666267 CA389889034 |
560 | G>E | No |
ClinGen gnomAD |
|
|
CA389889038 rs1594829054 |
561 | M>V | No |
ClinGen Ensembl |
|
|
CA389889057 rs1368918392 |
563 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1419020383 CA389889060 |
564 | P>S | No |
ClinGen gnomAD |
|
|
rs373008354 CA7207575 |
566 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA389889080 rs1302446555 |
567 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA261679994 rs945316601 |
568 | P>L | No |
ClinGen TOPMed |
|
|
rs771645843 CA7207577 |
568 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1230333626 CA389889087 |
569 | L>I | No |
ClinGen gnomAD |
|
|
rs1594829133 CA389889089 |
569 | L>P | No |
ClinGen Ensembl |
|
|
rs775257172 CA7207578 |
570 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA261679995 rs866795002 |
570 | P>S | No |
ClinGen Ensembl |
|
|
CA389889121 rs1594829165 |
574 | P>L | No |
ClinGen Ensembl |
|
|
CA389889113 rs1390891008 |
574 | P>S | No |
ClinGen TOPMed |
|
|
CA7207580 rs760215723 |
575 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367490108 CA389889128 |
575 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs770212276 CA7207581 |
576 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770212276 CA389889136 |
576 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773505954 CA7207582 |
577 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773505954 CA261680033 |
577 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA261680047 rs903775255 |
578 | P>A | No |
ClinGen gnomAD |
|
|
rs150384804 CA389889169 |
578 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7207584 rs150384804 |
578 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389889193 rs1414239638 |
580 | P>H | No |
ClinGen gnomAD |
|
|
rs1206803655 CA389889203 |
581 | P>S | No |
ClinGen TOPMed |
|
|
rs759706427 CA7207586 |
582 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389889248 rs1156736780 |
584 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1156736780 CA389889250 |
584 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7207587 rs767459414 |
584 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207588 rs149502429 |
586 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA261680075 rs775311579 |
588 | P>L | No |
ClinGen gnomAD |
|
|
CA389889319 rs1357565044 |
589 | P>R | No |
ClinGen gnomAD |
|
|
rs1283867125 CA389889314 |
589 | P>S | No |
ClinGen TOPMed |
|
|
CA389889336 rs1594829253 |
590 | P>L | No |
ClinGen Ensembl |
|
|
rs756273904 CA7207589 |
590 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA261680082 rs995671667 |
591 | G>S | No |
ClinGen TOPMed |
|
|
rs144793831 CA7207590 |
592 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1376580266 CA389889379 |
594 | M>K | No |
ClinGen gnomAD |
|
|
CA389889376 rs138844544 |
594 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138844544 CA7207591 |
594 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389889398 rs1312036580 |
595 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs772035162 CA7207592 |
595 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745771651 CA7207594 |
596 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7207596 rs779426886 |
597 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs779426886 CA389889416 |
597 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA389889427 rs1211773362 |
598 | L>P | No |
ClinGen gnomAD |
|
|
CA389889443 rs746735175 |
600 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA261680131 rs746735175 |
600 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA261680136 rs1016434941 |
602 | S>N | No |
ClinGen Ensembl |
|
|
rs962260014 CA261680140 |
602 | S>R | No |
ClinGen gnomAD |
|
|
rs1594829332 CA389889459 |
603 | I>V | No |
ClinGen Ensembl |
|
|
rs1440246336 CA389889491 |
608 | N>D | No |
ClinGen gnomAD |
|
|
CA389889530 rs1423121177 |
613 | F>L | No |
ClinGen gnomAD |
|
|
CA389889524 rs1223637299 |
613 | F>L | No |
ClinGen TOPMed |
|
|
rs1416277410 CA389889536 |
614 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389889556 rs1177003229 |
617 | K>E | No |
ClinGen gnomAD |
|
|
rs1399865373 CA389889558 |
617 | K>T | No |
ClinGen gnomAD |
|
|
CA389889568 rs763253274 |
619 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207600 rs763253274 |
619 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763776492 CA7207602 |
620 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763776492 CA389889573 |
620 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389889631 rs1594829600 |
626 | T>R | No |
ClinGen Ensembl |
|
|
rs1349084668 CA389889633 |
627 | V>I | No |
ClinGen TOPMed |
|
|
rs1335005196 CA389889652 |
629 | T>I | No |
ClinGen gnomAD |
|
|
CA7207617 rs139553997 |
630 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA261680413 rs966912575 |
631 | I>M | No |
ClinGen TOPMed |
|
|
CA261680405 rs1020706529 |
631 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7207618 rs751801563 |
632 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA389889670 rs1339362987 |
632 | D>G | No |
ClinGen gnomAD |
|
|
rs1339362987 CA389889671 |
632 | D>V | No |
ClinGen gnomAD |
|
|
rs1279739523 CA389889677 |
633 | D>G | No |
ClinGen gnomAD |
|
|
CA7207621 rs373338454 |
635 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775674348 CA7207622 |
636 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs764251989 CA7207624 |
641 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs760791831 CA389889728 |
641 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA7207623 rs760791831 |
641 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs755074477 CA261680426 |
642 | L>P | No |
ClinGen Ensembl |
|
|
CA7207625 rs777034288 |
643 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202092651 CA261680430 |
644 | D>N | No |
ClinGen 1000Genomes |
|
|
rs1424646671 CA389889775 |
648 | T>N | No |
ClinGen gnomAD |
|
|
rs1424646671 CA389889776 |
648 | T>S | No |
ClinGen gnomAD |
|
|
CA389889820 rs1594829688 |
654 | R>S | No |
ClinGen Ensembl |
|
|
rs750130432 CA7207628 |
655 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1416510293 CA389889829 |
656 | Q>* | No |
ClinGen gnomAD |
|
|
rs74393224 CA261684489 |
660 | V>L | No |
ClinGen Ensembl |
|
|
rs1348274568 CA389890560 |
662 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7207649 rs565663918 |
663 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1566711833 CA389890575 |
664 | S>A | No |
ClinGen Ensembl |
|
|
rs1488438372 CA389890821 |
671 | A>D | No |
ClinGen TOPMed |
|
|
CA7207665 rs770685227 |
674 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1374477863 CA389890872 |
674 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1207350764 CA389890879 |
675 | T>A | No |
ClinGen TOPMed |
|
|
CA7207666 rs774071414 |
675 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1231186197 CA389890910 |
677 | S>T | No |
ClinGen gnomAD |
|
|
CA7207668 rs767400400 |
679 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA389890963 rs1235324130 |
680 | L>P | No |
ClinGen TOPMed |
|
|
CA389890992 rs749917509 |
682 | V>F | No |
ClinGen gnomAD |
|
|
rs749917509 CA261685990 |
682 | V>L | No |
ClinGen gnomAD |
|
|
CA389891042 rs1459406484 |
685 | L>F | No |
ClinGen gnomAD |
|
|
CA7207671 rs760156272 |
685 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs763633195 CA7207672 |
686 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1384927416 CA389891107 |
689 | D>G | No |
ClinGen TOPMed |
|
|
CA7207674 rs756922163 |
690 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs758034830 CA7207676 |
691 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs181718144 CA7207675 |
691 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA261686037 rs975409166 |
692 | R>G | No |
ClinGen Ensembl |
|
|
rs1308602920 CA389891197 |
696 | C>R | No |
ClinGen TOPMed |
|
|
rs1169598643 CA389891212 |
696 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs781776500 CA7207678 |
701 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1398345746 CA389891802 |
707 | N>S | No |
ClinGen TOPMed |
|
|
CA261691062 rs973543535 |
709 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7207700 rs757491422 |
712 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749346775 CA7207699 |
712 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779157795 CA7207701 |
713 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7207703 rs746060506 |
714 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746060506 CA7207702 |
714 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389891856 rs1260505244 |
716 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389891866 rs1186799752 |
717 | M>I | No |
ClinGen gnomAD |
|
|
rs1486638313 CA389891864 |
717 | M>T | No |
ClinGen gnomAD |
|
|
CA389891883 rs1165348549 |
719 | E>D | No |
ClinGen gnomAD |
|
|
CA7207705 rs746938240 |
719 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA389891893 rs1385813135 |
721 | E>Q | No |
ClinGen gnomAD |
|
|
CA389891901 rs1419113038 |
722 | D>Y | No |
ClinGen gnomAD |
|
|
rs141994965 CA7207706 |
724 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776038942 CA7207707 |
724 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA389891921 rs1253415121 |
725 | K>R | No |
ClinGen TOPMed |
|
|
CA389891933 rs1370984311 |
727 | M>L | No |
ClinGen gnomAD |
|
|
CA389891934 rs1370984311 |
727 | M>V | No |
ClinGen gnomAD |
|
|
CA7207708 rs761432946 |
728 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA7207730 rs772785927 |
737 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs150686067 CA7207731 |
739 | S>G | No |
ClinGen ESP ExAC |
|
|
CA7207732 rs766013818 |
741 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389871206 rs1457194251 |
743 | L>P | No |
ClinGen gnomAD |
|
|
rs754437659 CA7207736 |
749 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207735 rs764336973 |
749 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7207737 rs570446187 |
750 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7207738 rs765315366 |
753 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1594844397 CA389871626 |
755 | A>G | No |
ClinGen Ensembl |
|
|
CA7207739 rs750439919 |
756 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1464419152 CA389871715 |
758 | D>V | No |
ClinGen gnomAD |
|
|
rs1331402960 CA389871738 |
759 | R>G | No |
ClinGen gnomAD |
|
|
CA389871776 rs1594844427 |
760 | F>V | No |
ClinGen Ensembl |
|
|
rs780276345 RCV000203200 CA249406 |
762 | F>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA389871873 rs1594844441 |
762 | F>S | No |
ClinGen Ensembl |
|
|
CA261651905 rs900678773 |
763 | E>D | No |
ClinGen Ensembl |
|
|
CA389871893 rs1251308743 |
763 | E>Q | No |
ClinGen TOPMed |
|
|
rs570743437 CA389871994 |
766 | R>L | No |
ClinGen gnomAD |
|
|
CA261651913 rs570743437 |
766 | R>Q | No |
ClinGen gnomAD |
|
|
CA261652763 rs967657010 |
770 | Y>N | No |
ClinGen Ensembl |
|
|
CA7207757 rs750527242 |
771 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1289541737 CA389873558 |
773 | R>K | No |
ClinGen gnomAD |
|
|
CA7207759 rs766362126 |
776 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1476187663 CA389873596 |
779 | F>I | No |
ClinGen TOPMed |
|
|
CA389873616 rs1594845548 |
781 | K>R | No |
ClinGen Ensembl |
|
|
CA389873635 rs1472698784 |
783 | F>L | No |
ClinGen gnomAD |
|
|
CA389873657 rs1161939396 |
786 | R>H | No |
ClinGen gnomAD |
|
|
CA389873699 rs1387661516 |
793 | K>E | No |
ClinGen gnomAD |
|
|
CA389873783 rs1241306976 |
796 | A>G | No |
ClinGen gnomAD |
|
|
CA389873785 rs1241306976 |
796 | A>V | No |
ClinGen gnomAD |
|
|
CA7207779 rs767797655 |
798 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs752942922 CA7207780 |
798 | R>H | No |
ClinGen ExAC TOPMed |
|
|
rs1344588384 CA389873829 |
799 | S>F | No |
ClinGen gnomAD |
|
|
CA389873823 rs1441080028 |
799 | S>P | No |
ClinGen TOPMed |
|
|
CA7207781 rs756012306 |
800 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs374180933 CA261653717 |
806 | R>S | No |
ClinGen ESP TOPMed |
|
|
CA7207782 rs140363428 |
807 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376681226 CA7207783 |
807 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757084928 CA7207784 |
808 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs757084928 CA389873967 |
808 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA7207785 rs367677783 |
808 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs540791565 CA7207787 |
809 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs147930311 CA7207786 |
809 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs540791565 CA389873990 |
809 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1183357961 CA389874041 |
812 | Q>R | No |
ClinGen gnomAD |
|
|
CA389874088 rs1173874557 |
815 | E>G | No |
ClinGen gnomAD |
|
|
rs770198358 CA7207790 |
816 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389874184 rs1566721186 |
821 | G>R | No |
ClinGen Ensembl |
|
|
rs1394269670 CA389874216 |
823 | Y>C | No |
ClinGen gnomAD |
|
|
rs1330537959 CA389874211 |
823 | Y>D | No |
ClinGen gnomAD |
|
|
CA261653752 rs952257927 |
824 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7207792 rs529381051 |
827 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389874291 rs1221877555 |
828 | Q>* | No |
ClinGen gnomAD |
|
|
CA389874308 rs1390831158 |
829 | R>G | No |
ClinGen TOPMed |
|
|
rs144886720 CA7207793 |
831 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369786109 CA7207795 |
835 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774511016 CA7207794 |
835 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA389874444 rs1250054597 |
836 | K>N | No |
ClinGen gnomAD |
|
|
CA7207796 rs767672601 |
837 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs1566721250 CA389874454 |
838 | S>P | No |
ClinGen Ensembl |
|
|
CA389874470 rs1196943981 |
839 | S>N | No |
ClinGen gnomAD |
|
|
rs1250589398 CA389874483 |
840 | L>V | No |
ClinGen gnomAD |
|
|
CA261653795 rs948387898 |
842 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1490055421 CA389874542 |
844 | A>V | No |
ClinGen gnomAD |
|
|
rs1270626781 CA389874556 |
845 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA389874546 rs1196789918 |
845 | D>H | No |
ClinGen gnomAD |
|
|
rs1196789918 CA389874544 |
845 | D>N | No |
ClinGen gnomAD |
|
|
CA389874571 rs775920635 |
846 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207797 rs775920635 |
846 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA261653810 rs773240761 |
848 | S>F | No |
ClinGen Ensembl |
|
|
CA614358515 rs1169495132 |
848 | S>H | No |
ClinGen gnomAD |
|
|
CA7207799 rs749022496 |
849 | S>T | No |
ClinGen ExAC |
|
|
CA389874632 rs763996595 |
850 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144346553 CA7207800 |
850 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753509615 CA7207802 |
851 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335588376 CA389874654 |
852 | K>E | No |
ClinGen TOPMed |
|
|
CA389875940 rs1420773133 |
855 | T>S | No |
ClinGen TOPMed |
|
|
CA389875956 rs776516448 |
856 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207819 rs776516448 |
856 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312565446 CA389875996 |
858 | H>Q | No |
ClinGen gnomAD |
|
|
rs369340356 CA7207820 |
860 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA261656498 rs866146973 |
863 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750398279 CA7207822 |
865 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258603996 CA389876172 |
866 | N>H | No |
ClinGen gnomAD |
|
|
rs377139080 CA7207823 |
866 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1205504660 CA389876281 |
869 | P>L | No |
ClinGen gnomAD |
|
|
rs765876544 CA7207824 |
871 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1440969954 CA389876307 |
871 | V>I | No |
ClinGen TOPMed |
|
|
CA7207825 rs751026399 |
872 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488551287 CA389876358 |
873 | N>S | No |
ClinGen TOPMed |
|
|
CA7207826 rs61740455 RCV000955484 |
875 | N>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7207827 rs780755856 |
875 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148831209 CA7207828 |
879 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148831209 CA261656548 |
879 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779321181 CA7207830 |
879 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772642748 CA7207832 |
881 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389876575 rs1333874911 |
882 | P>L | No |
ClinGen TOPMed |
|
|
rs1336467739 CA389876602 |
884 | A>S | No |
ClinGen gnomAD |
|
|
rs780312090 CA389876617 |
885 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1401013835 CA389876611 |
885 | A>T | No |
ClinGen TOPMed |
|
|
CA7207833 rs780312090 |
885 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1352574669 CA389876657 |
888 | N>D | No |
ClinGen Ensembl |
|
|
rs1198925390 CA389877301 |
890 | T>A | No |
ClinGen gnomAD |
|
|
CA261657348 rs199530272 |
892 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7207859 rs199530272 |
892 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1478203651 CA389877385 |
896 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1419335825 CA389877473 |
902 | G>R | No |
ClinGen gnomAD |
|
|
CA389877480 rs1408682560 |
902 | G>V | No |
ClinGen gnomAD |
|
|
CA389877497 rs1433504053 |
903 | L>F | No |
ClinGen gnomAD |
|
|
rs1355723801 CA389877502 |
904 | K>* | No |
ClinGen gnomAD |
|
|
CA389877567 rs1594850677 |
906 | V>G | No |
ClinGen Ensembl |
|
|
CA7207862 rs772901652 |
906 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs774887513 CA7207888 |
912 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs763484523 CA7207890 |
915 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1163831295 CA389878656 |
915 | S>T | No |
ClinGen TOPMed |
|
|
CA389878673 rs1458991851 |
917 | P>S | No |
ClinGen TOPMed |
|
|
CA389878681 rs1444554804 |
918 | P>Q | No |
ClinGen gnomAD |
|
|
CA389878680 rs1249096093 |
918 | P>S | No |
ClinGen gnomAD |
|
|
CA7207893 rs200150249 |
920 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200150249 CA389878713 |
920 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200150249 CA389878711 |
920 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151000937 CA7207896 |
921 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151000937 CA7207895 |
921 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756283456 CA7207898 |
922 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs538723318 CA7207897 |
922 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389878740 rs538723318 |
922 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7207899 rs777815552 |
923 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA389878768 rs1451800914 |
923 | K>N | No |
ClinGen gnomAD |
|
|
CA7207902 rs778711935 |
924 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754073322 CA7207900 |
924 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs757403590 CA7207901 |
924 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA7207903 rs745627328 |
927 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs202107366 CA7207904 |
929 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389878881 rs1269128438 |
931 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7207905 rs780081768 |
932 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389878998 rs1443587362 |
938 | S>R | No |
ClinGen gnomAD |
|
|
CA389879088 rs1388462302 |
942 | V>A | No |
ClinGen TOPMed |
|
|
CA7207909 rs776227843 |
942 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA389879115 rs1412376791 |
944 | D>H | No |
ClinGen gnomAD |
|
|
CA389879147 rs1334533217 |
947 | A>V | No |
ClinGen gnomAD |
|
|
CA7207911 rs769518508 |
948 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1396594605 CA389879159 |
949 | A>D | No |
ClinGen gnomAD |
|
|
CA7207912 rs371838550 |
949 | A>T | No |
ClinGen ESP ExAC |
|
|
CA7207913 rs759983525 |
950 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs1328263693 CA389879160 |
950 | K>Q | No |
ClinGen gnomAD |
|
|
CA7207914 rs767765809 |
951 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753303582 CA7207915 |
952 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1458189321 CA389880169 |
954 | T>A | No |
ClinGen TOPMed |
|
|
CA389880174 rs1164498259 |
955 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA389880182 rs761923119 |
956 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207938 rs761923119 |
956 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389880201 rs765298954 |
959 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs765298954 CA7207939 |
959 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7207940 rs750719199 |
964 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758495018 CA7207941 |
968 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1422954889 CA389880267 |
968 | Q>P | No |
ClinGen gnomAD |
|
|
CA7207942 rs140887470 |
970 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389880291 rs1382016672 |
971 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA389880296 rs1293987081 |
972 | F>C | No |
ClinGen gnomAD |
|
|
CA7207944 rs754794586 |
974 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA389880326 rs1297655336 |
976 | F>C | No |
ClinGen gnomAD |
|
|
rs1303267323 CA389880331 |
977 | D>Y | No |
ClinGen TOPMed |
|
|
CA261661865 rs781315256 |
980 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781315256 CA7207945 |
980 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755740073 CA7207947 |
983 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1023455161 CA261661894 |
986 | A>G | No |
ClinGen Ensembl |
|
|
CA7207950 rs770449951 |
987 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs748973177 CA7207949 |
987 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207951 rs775946384 |
990 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389880425 rs768979450 |
991 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207953 rs768979450 |
991 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389880442 rs1594856245 |
993 | M>T | No |
ClinGen Ensembl |
|
|
rs777190610 CA7207954 |
993 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs765975494 CA261661921 |
995 | K>R | No |
ClinGen Ensembl |
|
|
rs762297551 CA7207955 |
996 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs765373985 CA7207958 |
997 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA389880474 rs1412193909 |
997 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs773103520 CA7207960 |
1002 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207961 rs773103520 |
1002 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766554858 CA7207962 |
1002 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs751770774 CA389880510 |
1003 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs751770774 CA7207963 |
1003 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs754884597 CA7207964 |
1003 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7207965 rs767404780 |
1004 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7207966 rs752693424 |
1005 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199742099 CA7207968 |
1005 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199742099 CA7207967 |
1005 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369189728 CA7207969 |
1006 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1258720583 CA389880537 |
1008 | A>T | No |
ClinGen gnomAD |
|
|
CA261662765 rs1000402504 |
1011 | K>T | No |
ClinGen gnomAD |
|
|
CA7207986 rs759772101 |
1013 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA261662770 rs978510661 |
1014 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7207987 rs767423173 |
1014 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376120007 CA389881405 |
1016 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376120007 CA7207988 |
1016 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138713289 CA7207989 |
1018 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7207991 rs753779506 |
1018 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753779506 CA389881431 |
1018 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138713289 CA7207990 |
1018 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142026760 CA7207992 RCV000239287 |
1021 | R>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA389881481 rs1461051615 |
1022 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs778475617 CA7207993 |
1022 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778475617 CA389881492 |
1022 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750092322 CA7207994 |
1023 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1204579089 CA389881513 |
1024 | K>E | No |
ClinGen TOPMed |
|
|
rs781571946 CA7207996 |
1025 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs748467074 CA7207997 |
1026 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs747197457 CA261662802 |
1028 | E>A | No |
ClinGen Ensembl |
|
|
CA7207998 rs770160282 |
1029 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs770926460 CA7208001 |
1031 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276927679 CA389881731 |
1032 | E>K | No |
ClinGen gnomAD |
|
|
CA7208003 rs759867723 |
1041 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA389881921 rs1267154796 |
1042 | S>L | No |
ClinGen gnomAD |
|
|
rs1479229536 CA389881969 |
1045 | V>A | No |
ClinGen gnomAD |
|
|
CA389882034 rs1328067032 |
1049 | D>Y | No |
ClinGen TOPMed |
|
|
CA261662847 rs866846147 |
1055 | R>Q | No |
ClinGen Ensembl |
|
|
CA389882148 rs1427319611 |
1055 | R>W | No |
ClinGen gnomAD |
|
|
rs1166170856 CA389882182 |
1057 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs138232345 CA7208005 |
1057 | R>H | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1459538467 CA389882203 |
1058 | K>R | No |
ClinGen TOPMed |
|
|
CA7208006 rs555785924 |
1059 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199646971 CA7208007 |
1059 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7208008 rs753778751 |
1060 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7208009 rs202084729 |
1062 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7208010 rs764733596 |
1063 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs749897799 CA389882363 |
1068 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA261662879 rs1037580785 |
1071 | R>K | No |
ClinGen TOPMed |
|
|
rs1037580785 CA389882419 |
1071 | R>T | No |
ClinGen TOPMed |
|
|
rs751203986 CA7208014 |
1073 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs577645330 CA7208016 |
1075 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389882495 rs1566514290 |
1076 | L>F | No |
ClinGen Ensembl |
|
|
rs778138642 CA7208017 |
1079 | F>E | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9Y4D1
5 regional properties for Q9Y4D1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Formin, FH3 domain | 235 - 439 | IPR010472 |
| domain | Formin, GTPase-binding domain | 45 - 232 | IPR010473 |
| domain | Diaphanous autoregulatory (DAD) domain | 1027 - 1058 | IPR014767 |
| domain | Rho GTPase-binding/formin homology 3 (GBD/FH3) domain | 45 - 420 | IPR014768 |
| domain | Formin, FH2 domain | 600 - 1071 | IPR015425 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR45725 | FORMIN HOMOLOGY 2 FAMILY MEMBER |
| PANTHER Subfamily | PTHR45725:SF16 | DISHEVELED-ASSOCIATED ACTIVATOR OF MORPHOGENESIS 1 |
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| motile cilium | A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| identical protein binding | Binding to an identical protein or proteins. |
| small GTPase binding | Binding to a small monomeric GTPase. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| 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 cytoskeletal structures comprising actin filaments and their associated proteins. |
| Wnt signaling pathway, planar cell polarity pathway | The series of molecular signals initiated by binding of a Wnt protein to a receptor on the surface of the target cell where activated receptors signal via downstream effectors including C-Jun N-terminal kinase (JNK) to modulate cytoskeletal elements and control cell polarity. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0A1D5P556 | DAAM2 | Disheveled-associated activator of morphogenesis 2 | Gallus gallus (Chicken) | SS |
| O95466 | FMNL1 | Formin-like protein 1 | Homo sapiens (Human) | SS |
| Q27J81 | INF2 | Inverted formin-2 | Homo sapiens (Human) | EV |
| Q86T65 | DAAM2 | Disheveled-associated activator of morphogenesis 2 | Homo sapiens (Human) | SS |
| Q0GNC1 | Inf2 | Inverted formin-2 | Mus musculus (Mouse) | SS |
| Q0QWG9 | Grid2ip | Delphilin | Mus musculus (Mouse) | PR |
| Q80U19 | Daam2 | Disheveled-associated activator of morphogenesis 2 | Mus musculus (Mouse) | SS |
| Q8BPM0 | Daam1 | Disheveled-associated activator of morphogenesis 1 | Mus musculus (Mouse) | PR |
| Q9C7S1 | FH12 | Formin-like protein 12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LH02 | FH17 | Formin-like protein 17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P0C5K4 | FH21A | Putative formin-like protein 21a | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FF14 | FH19 | Formin-like protein 19 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPRKRGGRG | ISFIFCCFRN | NDHPEITYRL | RNDSNFALQT | MEPALPMPPV | EELDVMFSEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VDELDLTDKH | REAMFALPAE | KKWQIYCSKK | KDQEENKGAT | SWPEFYIDQL | NSMAARKSLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ALEKEEEEER | SKTIESLKTA | LRTKPMRFVT | RFIDLDGLSC | ILNFLKTMDY | ETSESRIHTS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LIGCIKALMN | NSQGRAHVLA | HSESINVIAQ | SLSTENIKTK | VAVLEILGAV | CLVPGGHKKV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LQAMLHYQKY | ASERTRFQTL | INDLDKSTGR | YRDEVSLKTA | IMSFINAVLS | QGAGVESLDF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RLHLRYEFLM | LGIQPVIDKL | REHENSTLDR | HLDFFEMLRN | EDELEFAKRF | ELVHIDTKSA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TQMFELTRKR | LTHSEAYPHF | MSILHHCLQM | PYKRSGNTVQ | YWLLLDRIIQ | QIVIQNDKGQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DPDSTPLENF | NIKNVVRMLV | NENEVKQWKE | QAEKMRKEHN | ELQQKLEKKE | RECDAKTQEK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EEMMQTLNKM | KEKLEKETTE | HKQVKQQVAD | LTAQLHELSR | RAVCASIPGG | PSPGAPGGPF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PSSVPGSLLP | PPPPPPLPGG | MLPPPPPPLP | PGGPPPPPGP | PPLGAIMPPP | GAPMGLALKK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KSIPQPTNAL | KSFNWSKLPE | NKLEGTVWTE | IDDTKVFKIL | DLEDLERTFS | AYQRQQDFFV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NSNSKQKEAD | AIDDTLSSKL | KVKELSVIDG | RRAQNCNILL | SRLKLSNDEI | KRAILTMDEQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EDLPKDMLEQ | LLKFVPEKSD | IDLLEEHKHE | LDRMAKADRF | LFEMSRINHY | QQRLQSLYFK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KKFAERVAEV | KPKVEAIRSG | SEEVFRSGAL | KQLLEVVLAF | GNYMNKGQRG | NAYGFKISSL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| NKIADTKSSI | DKNITLLHYL | ITIVENKYPS | VLNLNEELRD | IPQAAKVNMT | ELDKEISTLR |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SGLKAVETEL | EYQKSQPPQP | GDKFVSVVSQ | FITVASFSFS | DVEDLLAEAK | DLFTKAVKHF |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| GEEAGKIQPD | EFFGIFDQFL | QAVSEAKQEN | ENMRKKKEEE | ERRARMEAQL | KEQRERERKM |
| 1030 | 1040 | 1050 | 1060 | 1070 | |
| RKAKENSEES | GEFDDLVSAL | RSGEVFDKDL | SKLKRNRKRI | TNQMTDSSRE | RPITKLNF |