O95466
Gene name |
FMNL1 (C17orf1, C17orf1B, FMNL, FRL1) |
Protein name |
Formin-like protein 1 |
Names |
CLL-associated antigen KW-13, Leukocyte formin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:752 |
EC number |
|
Protein Class |
|

Descriptions
(Annotation from UniProt)
The DAD domain may regulate activation via by an autoinhibitory interaction with the N-terminus. This autoinhibition may be released upon competitive binding of an activated GTPase. The release of DAD may allow the FH2 domain to nucleate and elongate nonbranched actin filaments.
Autoinhibitory domains (AIDs)
Target domain |
27-468 (GBD/FH3 domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Higashi T et al. (2010) "Flightless-I (Fli-I) regulates the actin assembly activity of diaphanous-related formins (DRFs) Daam1 and mDia1 in cooperation with active Rho GTPase", The Journal of biological chemistry, 285, 16231-8
- Ramabhadran V et al. (2013) "Actin monomers activate inverted formin 2 by competing with its autoinhibitory interaction", The Journal of biological chemistry, 288, 26847-55
- Dollar G et al. (2016) "Unique and Overlapping Functions of Formins Frl and DAAM During Ommatidial Rotation and Neuronal Development in Drosophila", Genetics, 202, 1135-51
Autoinhibited structure

Activated structure

2 structures for O95466
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
4YDH | X-ray | 380 A | A/C | 1-458 | PDB |
AF-O95466-F1 | Predicted | AlphaFoldDB |
743 variants for O95466
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA399863307 rs1419994531 |
3 | N>K | No |
ClinGen TOPMed |
|
CA291046323 rs886083105 |
4 | A>T | No |
ClinGen TOPMed |
|
CA399863339 rs1239275753 |
6 | G>C | No |
ClinGen gnomAD |
|
rs1283770205 CA399863345 |
6 | G>D | No |
ClinGen gnomAD |
|
CA399863420 rs1433536186 |
9 | E>K | No |
ClinGen TOPMed |
|
CA291046324 rs1005893430 |
12 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA8612379 rs530698237 |
13 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA399863496 rs1296596251 |
14 | P>S | No |
ClinGen gnomAD |
|
rs1382427058 CA399863505 |
15 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA399863510 rs1382427058 |
15 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1288897757 CA399863523 |
16 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1288897757 CA399863518 |
16 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs969828095 CA291046325 |
17 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA399863536 rs969828095 |
17 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1001732920 CA291046326 |
18 | P>S | No |
ClinGen TOPMed |
|
CA8612380 rs751701039 |
19 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399863572 rs751701039 |
19 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399863584 rs1339778172 |
20 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA399863602 rs1243731403 |
21 | Q>L | No |
ClinGen gnomAD |
|
rs1270049654 CA399863621 |
22 | P>L | No |
ClinGen TOPMed |
|
rs1360472972 CA399863614 |
22 | P>T | No |
ClinGen TOPMed |
|
rs1310714541 CA399863644 |
24 | P>L | No |
ClinGen TOPMed |
|
rs1359244228 CA399863661 |
25 | P>R | No |
ClinGen TOPMed |
|
rs1433669521 CA399863656 |
25 | P>S | No |
ClinGen TOPMed |
|
rs1176288708 CA399863673 |
26 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA291046328 rs149811878 |
28 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA399863714 rs149811878 |
28 | P>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA399863708 rs1474093859 |
28 | P>S | No |
ClinGen gnomAD |
|
CA399863726 rs1171177379 |
29 | M>I | No |
ClinGen TOPMed |
|
rs1401363805 CA399863743 |
31 | A>T | No |
ClinGen gnomAD |
|
rs1483014828 CA399864319 |
40 | N>S | No |
ClinGen TOPMed |
|
rs1567951845 CA399864340 |
42 | A>V | No |
ClinGen Ensembl |
|
rs771544630 CA8612390 |
44 | N>K | No |
ClinGen ExAC gnomAD |
|
CA8612391 rs777320562 |
49 | P>S | No |
ClinGen ExAC gnomAD |
|
rs550614169 CA8612392 |
50 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1410891182 CA399865873 |
54 | Q>R | No |
ClinGen Ensembl |
|
rs770080353 CA8612393 |
61 | N>D | No |
ClinGen ExAC gnomAD |
|
rs202024994 CA8612394 |
61 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA399865954 rs1278671931 |
62 | E>D | No |
ClinGen gnomAD |
|
rs764430700 CA8612396 |
62 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774388607 CA8612397 |
68 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1264415918 CA399866054 |
71 | Q>R | No |
ClinGen gnomAD |
|
rs766398009 CA8612420 |
73 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1222744787 CA399866145 |
73 | R>W | No |
ClinGen TOPMed |
|
CA399866210 rs1295137518 |
79 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA399866212 rs1295137518 |
79 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs759417988 CA8612422 |
81 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399866243 rs1385888110 |
82 | A>V | No |
ClinGen gnomAD |
|
rs544712237 CA291047493 |
84 | I>V | No |
ClinGen Ensembl |
|
rs764945252 CA8612423 |
89 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399866311 rs764945252 |
89 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752425707 CA8612424 |
90 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1567960336 CA399866350 |
92 | D>A | No |
ClinGen Ensembl |
|
rs370795739 CA8612425 |
93 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA399866392 rs1598188762 |
96 | V>G | No |
ClinGen Ensembl |
|
CA399866397 rs1353708359 |
97 | S>N | No |
ClinGen gnomAD |
|
CA399866398 rs1353708359 |
97 | S>T | No |
ClinGen gnomAD |
|
CA399866435 rs1598188790 |
100 | V>G | No |
ClinGen Ensembl |
|
CA399866497 COSM1710384 rs1209499276 |
106 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA8612430 rs749568309 |
107 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399866662 rs1245574309 |
113 | R>* | No |
ClinGen TOPMed gnomAD |
|
CA291047572 rs950822529 |
113 | R>Q | No |
ClinGen Ensembl |
|
CA399866680 rs1452009852 |
115 | Q>E | No |
ClinGen gnomAD |
|
rs867891866 CA291047573 |
115 | Q>R | No |
ClinGen Ensembl |
|
CA8612463 COSM2155395 rs762893518 |
118 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs867315062 CA291047575 |
119 | Q>H | No |
ClinGen Ensembl |
|
rs763793800 CA291047576 |
122 | R>L | No |
ClinGen ExAC gnomAD |
|
rs763793800 CA8612464 |
122 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1158351749 CA399866749 |
122 | R>W | No |
ClinGen gnomAD |
|
CA399866754 rs1324432585 |
123 | E>K | No |
ClinGen gnomAD |
|
rs868241353 CA291047577 |
124 | L>M | No |
ClinGen TOPMed gnomAD |
|
CA399866771 rs1349554179 |
125 | E>K | No |
ClinGen gnomAD |
|
rs867051797 CA291047578 |
127 | S>P | No |
ClinGen Ensembl |
|
rs867650581 CA291047579 |
129 | R>S | No |
ClinGen Ensembl |
|
rs1333511551 CA399866825 |
130 | T>I | No |
ClinGen gnomAD |
|
rs1239341827 CA399866833 |
131 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA399866840 rs1170710748 |
132 | H>Y | No |
ClinGen TOPMed |
|
rs777816100 CA8612473 |
136 | V>E | No |
ClinGen ExAC gnomAD |
|
CA399866922 rs777816100 |
136 | V>G | No |
ClinGen ExAC gnomAD |
|
CA399866961 rs1316728318 |
139 | F>L | No |
ClinGen TOPMed gnomAD |
|
CA291047609 rs866288268 |
140 | L>F | No |
ClinGen Ensembl |
|
CA8612475 rs373663989 |
141 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs867268487 CA291047610 |
142 | E>K | No |
ClinGen Ensembl |
|
CA291047611 rs113346719 |
144 | N>D | No |
ClinGen Ensembl |
|
rs1257260283 CA399867007 |
144 | N>S | No |
ClinGen gnomAD |
|
CA8612478 rs367724765 |
145 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8612479 rs148973232 |
145 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs749054379 CA8612481 |
148 | D>H | No |
ClinGen ExAC gnomAD |
|
CA8612480 rs749054379 |
148 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA399867048 rs1461518344 |
149 | V>M | No |
ClinGen gnomAD |
|
rs375380299 CA8612483 |
152 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8612484 rs771688761 |
155 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1333216956 CA399867113 |
155 | A>V | No |
ClinGen gnomAD |
|
CA8612485 rs772678322 |
162 | T>M | No |
ClinGen ExAC gnomAD |
|
CA8612506 rs775915127 |
165 | M>I | No |
ClinGen ExAC gnomAD |
|
CA8612505 rs770429242 |
165 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399867233 rs770429242 |
165 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA291047641 rs200640751 |
166 | E>G | No |
ClinGen gnomAD |
|
CA399867251 rs1439516512 |
167 | S>I | No |
ClinGen gnomAD |
|
rs372127527 CA8612507 |
168 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1242990462 CA399867269 |
169 | D>G | No |
ClinGen gnomAD |
|
rs375374786 CA291047642 |
169 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
CA399867287 rs7209538 |
170 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8612510 rs369927345 |
171 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA399867376 rs1228289595 |
178 | N>I | No |
ClinGen gnomAD |
|
CA399867394 rs1267456009 |
180 | P>A | No |
ClinGen gnomAD |
|
rs1031970859 CA291047643 |
180 | P>L | No |
ClinGen Ensembl |
|
rs1213081352 CA399867465 |
186 | E>D | No |
ClinGen gnomAD |
|
rs767742597 CA399867472 |
187 | D>A | No |
ClinGen ExAC gnomAD |
|
rs767742597 CA8612512 |
187 | D>V | No |
ClinGen ExAC gnomAD |
|
CA399867478 rs1179201681 |
188 | L>I | No |
ClinGen gnomAD |
|
CA399867516 rs780269020 |
191 | G>D | No |
ClinGen ExAC gnomAD |
|
CA8612515 rs780269020 |
191 | G>V | No |
ClinGen ExAC gnomAD |
|
CA291047645 rs974533292 |
192 | P>S | No |
ClinGen gnomAD |
|
rs754038484 CA399867531 |
193 | P>A | No |
ClinGen ExAC |
|
CA8612516 rs754038484 |
193 | P>S | No |
ClinGen ExAC |
|
CA399867554 rs1368670891 |
195 | S>F | No |
ClinGen gnomAD |
|
CA8612518 COSM1734486 rs778765351 |
196 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1446949290 CA399867567 |
197 | P>S | No |
ClinGen gnomAD |
|
CA8612521 rs771793020 |
198 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1390021801 CA399867595 |
199 | S>R | No |
ClinGen gnomAD |
|
rs777337969 CA8612522 |
200 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs373132848 CA8612523 |
200 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373132848 CA8612524 |
200 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs769161697 CA8612527 |
205 | K>E | No |
ClinGen ExAC gnomAD |
|
rs374960639 CA8612568 |
208 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs778447690 CA8612567 |
208 | P>S | No |
ClinGen ExAC gnomAD |
|
CA8612569 rs771426176 |
210 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA8612570 rs776852929 |
212 | R>G | No |
ClinGen ExAC gnomAD |
|
rs759663688 CA8612571 |
212 | R>T | No |
ClinGen ExAC gnomAD |
|
rs200547847 CA8612572 |
216 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA399868196 rs1213714217 |
216 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs763065736 CA8612574 |
219 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1235140964 CA399868216 |
219 | R>H | No |
ClinGen gnomAD |
|
rs763983223 CA8612575 |
220 | I>V | No |
ClinGen ExAC gnomAD |
|
rs767205834 CA8612578 |
221 | V>I | No |
ClinGen ExAC gnomAD |
|
CA8612579 rs144714204 |
222 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs535461614 CA8612580 |
223 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs767012221 CA8612582 |
225 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8612584 rs778357711 |
227 | V>I | No |
ClinGen ExAC gnomAD |
|
COSM1383787 rs781402859 CA8612587 |
229 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs769880915 CA8612589 |
232 | M>T | No |
ClinGen ExAC gnomAD |
|
CA8612590 rs775801071 |
235 | R>C | No |
ClinGen ExAC gnomAD |
|
CA8612591 rs762957389 |
235 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774475483 CA291049055 |
236 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774475483 CA8612593 |
236 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8612594 rs201153167 |
237 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs767532251 CA399868422 |
238 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767532251 CA8612595 |
238 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1207203007 CA399868461 |
241 | Q>K | No |
ClinGen TOPMed |
|
CA8612612 rs748278646 |
242 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs771856191 CA8612613 |
246 | L>R | No |
ClinGen ExAC gnomAD |
|
CA291049267 rs1037067048 |
247 | V>I | No |
ClinGen gnomAD |
|
CA399868641 rs1393805916 |
248 | M>T | No |
ClinGen TOPMed |
|
CA291049269 rs200827907 |
249 | N>S | No |
ClinGen ExAC gnomAD |
|
CA8612614 rs200827907 |
249 | N>T | No |
ClinGen ExAC gnomAD |
|
rs760319880 CA8612615 |
250 | H>P | No |
ClinGen ExAC gnomAD |
|
rs766209725 CA8612616 |
251 | P>Q | No |
ClinGen ExAC gnomAD |
|
CA291049274 rs918577044 |
252 | A>V | No |
ClinGen Ensembl |
|
rs1555630186 CA399868706 |
258 | A>T | No |
ClinGen Ensembl |
|
CA8612617 rs531104370 |
263 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs879249761 CA291049277 |
266 | P>S | No |
ClinGen Ensembl |
|
rs569280215 CA8612638 |
270 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1394613409 CA399868836 |
270 | A>V | No |
ClinGen gnomAD |
|
rs764928976 CA8612639 |
271 | L>V | No |
ClinGen ExAC gnomAD |
|
CA399868875 rs1393442708 |
277 | A>V | No |
ClinGen gnomAD |
|
rs868773576 CA291049332 |
278 | A>D | No |
ClinGen Ensembl |
|
rs35909374 CA291049330 |
278 | A>P | No |
ClinGen Ensembl |
|
CA399868884 rs1598198433 |
279 | V>G | No |
ClinGen Ensembl |
|
CA8612643 rs200464299 |
279 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1335511245 CA399868907 |
283 | R>Q | No |
ClinGen gnomAD |
|
rs138651184 CA8612645 |
283 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1481585863 CA399868960 |
291 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA399868969 rs1177505062 |
292 | A>V | No |
ClinGen gnomAD |
|
CA8612647 rs755368952 |
294 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1416891635 CA399868989 |
295 | N>S | No |
ClinGen gnomAD |
|
rs758604980 CA8612650 |
296 | F>L | No |
ClinGen ExAC TOPMed |
|
rs752976420 CA8612649 |
296 | F>L | No |
ClinGen ExAC gnomAD |
|
CA8612673 rs781205836 |
299 | V>L | No |
ClinGen ExAC gnomAD |
|
CA8612674 rs781205836 |
299 | V>M | No |
ClinGen ExAC gnomAD |
|
CA8612675 rs769920910 |
301 | G>A | No |
ClinGen ExAC gnomAD |
|
rs779872309 CA8612676 |
302 | E>V | No |
ClinGen ExAC gnomAD |
|
rs749089786 CA8612677 |
303 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA399869052 rs749089786 |
303 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA8612679 rs373612875 |
305 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs761248488 CA8612680 |
305 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1443637227 CA399869085 |
307 | E>D | No |
ClinGen Ensembl |
|
CA291049519 rs929854823 |
309 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA399869106 rs1294767562 |
310 | M>I | No |
ClinGen gnomAD |
|
rs146945062 CA8612682 |
314 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8612681 rs771585864 |
314 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1280821092 CA399869212 |
319 | N>K | No |
ClinGen gnomAD |
|
rs760030224 CA399869216 |
320 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8612683 rs760030224 |
320 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1243523167 CA399869244 |
322 | F>Y | No |
ClinGen gnomAD |
|
CA8612685 rs753082691 |
323 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750485206 CA8612709 |
328 | Q>L | No |
ClinGen ExAC gnomAD |
|
rs1598200870 CA399869406 |
332 | I>T | No |
ClinGen Ensembl |
|
rs1188214863 CA399869471 |
338 | E>V | No |
ClinGen TOPMed |
|
CA8612711 rs766273108 |
339 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1370228268 CA399869531 |
343 | R>C | No |
ClinGen gnomAD |
|
rs1433955464 CA399869533 |
343 | R>H | No |
ClinGen gnomAD |
|
CA399869563 rs1281079121 |
346 | L>V | No |
ClinGen gnomAD |
|
CA399869589 rs1457994999 |
348 | Y>C | No |
ClinGen TOPMed |
|
rs755002467 CA8612713 |
349 | E>A | No |
ClinGen ExAC gnomAD |
|
CA8612714 rs778567189 |
351 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1056201780 CA291049611 |
352 | H>R | No |
ClinGen TOPMed |
|
CA399869670 rs1265911402 |
356 | D>N | No |
ClinGen gnomAD |
|
CA8612716 rs758023511 |
358 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399869798 rs1005428446 |
361 | R>M | No |
ClinGen TOPMed gnomAD |
|
rs1410539610 CA399869802 |
361 | R>S | No |
ClinGen TOPMed |
|
CA291049922 rs1005428446 |
361 | R>T | No |
ClinGen TOPMed gnomAD |
|
rs771223137 CA8612748 |
363 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8612747 rs760805391 |
363 | R>W | No |
ClinGen ExAC gnomAD |
|
CA291049927 rs543302959 |
364 | L>F | No |
ClinGen 1000Genomes TOPMed |
|
rs1311941497 CA399869827 |
364 | L>P | No |
ClinGen gnomAD |
|
CA399869847 rs1272414859 |
366 | E>G | No |
ClinGen gnomAD |
|
COSM1521385 rs565193966 CA8612751 |
366 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
CA399869864 rs1598203681 |
367 | S>R | No |
ClinGen Ensembl |
|
CA399869922 rs1598203689 |
372 | V>G | No |
ClinGen Ensembl |
|
rs963600945 CA291049930 |
373 | Q>H | No |
ClinGen TOPMed |
|
rs752631528 CA399869968 |
376 | A>E | No |
ClinGen ExAC gnomAD |
|
CA8612752 rs752631528 |
376 | A>V | No |
ClinGen ExAC gnomAD |
|
CA399869981 rs1231886279 |
378 | L>Q | No |
ClinGen TOPMed |
|
rs148254640 CA291049935 |
383 | D>N | No |
ClinGen ESP |
|
rs371140378 CA399870067 |
386 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8612756 rs756839810 |
386 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8612757 rs371140378 |
386 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs755658968 CA8612759 |
389 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs886583447 CA291049943 |
390 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA399870160 rs1448797548 |
392 | E>K | No |
ClinGen gnomAD |
|
rs1396636310 CA399870231 |
396 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs772773705 CA8612763 |
399 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA399870321 rs1567967496 |
401 | M>T | No |
ClinGen Ensembl |
|
rs1366650487 CA399870372 |
404 | L>M | No |
ClinGen TOPMed |
|
rs1383352870 CA399870413 |
406 | E>K | No |
ClinGen gnomAD |
|
rs1165864513 CA399870444 |
407 | Q>H | No |
ClinGen TOPMed |
|
rs146321570 CA8612767 |
409 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs747448773 CA8612765 |
409 | A>T | No |
ClinGen ExAC gnomAD |
|
rs146321570 CA8612766 |
409 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1247085318 CA399871049 |
414 | R>W | No |
ClinGen TOPMed |
|
CA291050054 rs1032578186 |
416 | R>P | No |
ClinGen Ensembl |
|
rs759150835 CA291050052 |
416 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1397242212 CA399871088 |
418 | A>V | No |
ClinGen gnomAD |
|
CA8612792 rs767331731 |
420 | N>K | No |
ClinGen ExAC gnomAD |
|
rs964683515 CA291050057 |
423 | M>T | No |
ClinGen Ensembl |
|
rs1390344636 CA399871136 |
423 | M>V | No |
ClinGen TOPMed |
|
rs772948351 CA8612793 |
426 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399871191 rs1393567002 |
428 | E>K | No |
ClinGen gnomAD |
|
rs1308849198 CA399871211 |
429 | L>P | No |
ClinGen gnomAD |
|
CA399871215 rs1299865558 |
430 | E>Q | No |
ClinGen TOPMed |
|
CA8612794 rs118179136 |
434 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8612795 rs368818105 |
436 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368818105 CA8612796 |
436 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA399871311 rs1259272395 |
439 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs752120142 CA8612799 |
439 | E>V | No |
ClinGen ExAC gnomAD |
|
rs1196222115 CA399871336 |
441 | E>K | No |
ClinGen gnomAD |
|
rs1196222115 CA399871338 |
441 | E>Q | No |
ClinGen gnomAD |
|
rs1250543294 CA399871362 |
442 | T>N | No |
ClinGen gnomAD |
|
rs1417982331 CA399871386 |
444 | R>Q | No |
ClinGen gnomAD |
|
CA8612803 rs202029598 |
444 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs754046916 CA8612825 |
446 | R>H | No |
ClinGen ExAC |
|
CA399871518 rs1207365920 |
449 | E>K | No |
ClinGen gnomAD |
|
CA399871536 rs1261996852 |
450 | S>W | No |
ClinGen gnomAD |
|
CA8612827 rs779023560 |
451 | T>N | No |
ClinGen ExAC |
|
rs1598205389 CA399871542 |
451 | T>P | No |
ClinGen Ensembl |
|
rs1161474577 CA399871552 |
452 | A>D | No |
ClinGen TOPMed |
|
rs771999782 CA8612829 |
452 | A>S | No |
ClinGen ExAC gnomAD |
|
CA399871548 rs771999782 |
452 | A>T | No |
ClinGen ExAC gnomAD |
|
rs777882396 CA8612830 |
453 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA291050121 rs796625018 |
455 | P>A | No |
ClinGen Ensembl |
|
CA8612834 rs7219366 |
455 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA399871597 rs7219366 |
455 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8612835 rs7219366 |
455 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA399871609 rs1173986938 |
456 | S>A | No |
ClinGen TOPMed gnomAD |
|
CA8612836 rs759257998 |
456 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399871607 rs1173986938 |
456 | S>P | No |
ClinGen TOPMed gnomAD |
|
CA399871621 rs1319790085 |
457 | R>K | No |
ClinGen gnomAD |
|
CA399871637 rs769370872 |
458 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769370872 CA8612837 |
458 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399871645 rs1275249356 |
459 | P>A | No |
ClinGen gnomAD |
|
CA399871646 rs1275249356 |
459 | P>S | No |
ClinGen gnomAD |
|
CA399871658 rs1366409174 |
460 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA8612838 rs775042183 |
460 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399871673 rs1308745132 |
461 | E>A | No |
ClinGen TOPMed gnomAD |
|
rs1308745132 CA399871676 |
461 | E>G | No |
ClinGen TOPMed gnomAD |
|
CA399871755 rs1329228630 |
466 | P>L | No |
ClinGen gnomAD |
|
CA399871763 rs1207621487 |
467 | P>S | No |
ClinGen gnomAD |
|
CA291050139 rs556132624 |
468 | A>T | No |
ClinGen gnomAD |
|
rs1463938368 CA399871777 |
468 | A>V | No |
ClinGen gnomAD |
|
rs868043319 CA291050142 |
470 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1224186989 CA399871796 |
470 | P>S | No |
ClinGen gnomAD |
|
CA399871820 rs1189665997 |
472 | R>Q | No |
ClinGen gnomAD |
|
rs762390081 CA8612839 |
472 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8612840 rs768002965 |
473 | P>R | No |
ClinGen ExAC gnomAD |
|
CA8612841 rs750943458 |
475 | A>T | No |
ClinGen ExAC gnomAD |
|
CA291050155 rs868390620 |
475 | A>V | No |
ClinGen Ensembl |
|
rs1462964234 CA399871885 |
477 | E>Q | No |
ClinGen gnomAD |
|
CA399871905 rs1161588648 |
478 | L>R | No |
ClinGen TOPMed |
|
CA399871915 rs1468333791 |
479 | K>N | No |
ClinGen TOPMed |
|
rs1324181602 CA399871919 |
480 | V>L | No |
ClinGen gnomAD |
|
CA399871965 rs1338070705 |
481 | E>G | No |
ClinGen gnomAD |
|
CA399871937 rs1428656093 |
481 | E>K | No |
ClinGen TOPMed |
|
rs1349057743 CA399871972 |
482 | E>K | No |
ClinGen gnomAD |
|
rs1371778754 CA399872053 |
485 | E>D | No |
ClinGen TOPMed |
|
CA399872150 rs1285948748 |
490 | R>C | No |
ClinGen gnomAD |
|
rs1327645798 CA399872154 |
490 | R>P | No |
ClinGen gnomAD |
|
rs1230509044 CA399872182 |
492 | L>V | No |
ClinGen gnomAD |
|
CA291050186 rs754245263 |
493 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754245263 CA8612845 |
493 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399872197 rs754245263 |
493 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1451391359 CA399872190 |
493 | R>W | No |
ClinGen gnomAD |
|
rs1483520503 CA399872210 |
494 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs1473840101 CA399872245 |
496 | G>E | No |
ClinGen gnomAD |
|
rs752780093 CA399872253 |
497 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752780093 CA8612848 |
497 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1033052094 CA399872271 |
499 | V>F | No |
ClinGen TOPMed gnomAD |
|
CA399872270 rs1033052094 |
499 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA291050201 rs1033052094 |
499 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs375284482 CA291050207 |
504 | L>I | No |
ClinGen ESP TOPMed gnomAD |
|
rs1356786290 CA399872364 |
505 | P>L | No |
ClinGen gnomAD |
|
rs1305853629 CA399872360 |
505 | P>S | No |
ClinGen gnomAD |
|
CA399872357 rs1305853629 |
505 | P>T | No |
ClinGen gnomAD |
|
rs1356263403 CA399872380 |
507 | A>D | No |
ClinGen gnomAD |
|
rs1226922432 CA399872395 |
509 | A>P | No |
ClinGen gnomAD |
|
rs4792898 CA8612852 |
511 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1277234979 CA399872415 |
511 | P>T | No |
ClinGen gnomAD |
|
CA8612853 rs781102841 |
512 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745698209 CA8612854 |
512 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399872432 rs1236763616 |
513 | G>D | No |
ClinGen gnomAD |
|
CA8612855 rs200190513 |
513 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA291050237 rs199738233 |
514 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs199738233 CA8612856 |
514 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA399872497 rs1190215997 |
517 | P>L | No |
ClinGen gnomAD |
|
CA291050240 rs974665123 |
518 | T>N | No |
ClinGen Ensembl |
|
CA399872518 rs1390541195 |
519 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1390541195 CA399872515 |
519 | P>Q | No |
ClinGen TOPMed gnomAD |
|
CA399872523 rs1166328867 |
520 | G>R | No |
ClinGen gnomAD |
|
rs1414473769 CA399872535 |
521 | V>M | No |
ClinGen gnomAD |
|
rs183400333 COSM3667995 CA8612860 |
523 | T>I | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs773918631 CA8612859 |
523 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1300498650 CA399872568 |
524 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs776935088 CA8612862 |
525 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1343786178 CA399872591 |
526 | P>R | No |
ClinGen TOPMed |
|
CA8612863 rs983483815 |
526 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs983483815 CA291050256 |
526 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs1347405463 CA399872594 |
527 | S>G | No |
ClinGen gnomAD |
|
CA8612865 rs759852033 |
527 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1278033370 CA399872615 |
528 | P>S | No |
ClinGen gnomAD |
|
rs1440818740 CA399872627 |
529 | D>N | No |
ClinGen gnomAD |
|
rs1281404380 CA399872767 |
535 | E>Q | No |
ClinGen TOPMed |
|
CA291050352 rs987750486 |
536 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1413292315 CA399872837 |
539 | G>E | No |
ClinGen gnomAD |
|
CA399872858 rs1598206745 |
540 | A>E | No |
ClinGen Ensembl |
|
CA291050356 rs911779080 |
541 | A>V | No |
ClinGen TOPMed |
|
CA399872892 rs1457199081 |
542 | P>L | No |
ClinGen gnomAD |
|
rs1393288303 CA399872904 |
543 | P>L | No |
ClinGen gnomAD |
|
CA399872934 rs1343889813 |
545 | P>L | No |
ClinGen gnomAD |
|
CA399872962 rs1230236354 |
547 | P>Q | No |
ClinGen TOPMed gnomAD |
|
rs1230236354 CA399872964 |
547 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs776860279 CA8612878 |
549 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399872986 rs1226460594 |
550 | G>C | No |
ClinGen TOPMed gnomAD |
|
CA399872991 rs1267214512 |
550 | G>V | No |
ClinGen gnomAD |
|
CA399872994 rs1488676854 |
551 | L>F | No |
ClinGen gnomAD |
|
CA399873001 rs1598206853 |
551 | L>P | No |
ClinGen Ensembl |
|
rs540975102 CA8612879 |
552 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs540975102 CA399873012 |
552 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1209036166 CA399873005 |
552 | P>T | No |
ClinGen gnomAD |
|
CA399873017 rs1483850863 |
553 | S>A | No |
ClinGen TOPMed gnomAD |
|
CA399873020 rs1598206880 |
553 | S>F | No |
ClinGen Ensembl |
|
CA399873016 rs1483850863 |
553 | S>P | No |
ClinGen TOPMed gnomAD |
|
rs1483477244 CA399873028 |
554 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs1485366236 CA399873025 |
554 | P>S | No |
ClinGen TOPMed |
|
CA291050369 rs866238820 |
555 | Q>H | No |
ClinGen TOPMed |
|
CA399873038 rs1222043449 |
555 | Q>L | No |
ClinGen TOPMed gnomAD |
|
CA291050372 rs930323590 |
557 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA8612880 rs559226659 |
559 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1303563302 CA399873089 |
560 | S>P | No |
ClinGen TOPMed |
|
rs1157555335 CA399873096 |
561 | A>P | No |
ClinGen gnomAD |
|
CA399873102 rs1212995419 |
561 | A>V | No |
ClinGen TOPMed |
|
CA399873111 rs1192767612 |
562 | P>H | No |
ClinGen TOPMed gnomAD |
|
rs915682673 CA291050376 |
569 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs915682673 CA399873178 |
569 | P>T | No |
ClinGen TOPMed gnomAD |
|
rs1335993158 CA399873203 |
570 | G>A | No |
ClinGen TOPMed |
|
CA399873189 rs1403728815 |
570 | G>S | No |
ClinGen TOPMed |
|
CA8612881 rs777005438 |
572 | P>A | No |
ClinGen ExAC gnomAD |
|
rs1360362501 CA399873273 |
574 | P>H | No |
ClinGen TOPMed |
|
CA399873295 rs1308902731 |
575 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA399873293 rs1308902731 |
575 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs1411871340 CA399873287 |
575 | P>S | No |
ClinGen gnomAD |
|
rs950236257 CA291050388 |
576 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA399873324 rs1167656804 |
578 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA291050392 rs1046330350 |
579 | P>L | No |
ClinGen TOPMed |
|
rs1243742735 CA399873355 |
581 | P>S | No |
ClinGen gnomAD |
|
rs1263480376 CA399873384 |
583 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs903398118 CA291050395 |
585 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs999082421 CA291050399 |
586 | P>H | No |
ClinGen TOPMed gnomAD |
|
CA399873437 rs999082421 |
586 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA399873435 rs999082421 |
586 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs765502971 CA399873450 |
587 | P>Q | No |
ClinGen ExAC gnomAD |
|
CA8612883 rs765502971 |
587 | P>R | No |
ClinGen ExAC gnomAD |
|
CA399873478 rs1424936519 |
589 | P>L | No |
ClinGen gnomAD |
|
CA399873477 rs1424936519 |
589 | P>R | No |
ClinGen gnomAD |
|
CA399873473 rs1258794359 |
589 | P>S | No |
ClinGen gnomAD |
|
rs1187518930 CA399873484 |
590 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs574253266 CA291050407 |
593 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA8612884 rs542025302 |
594 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1370198478 CA399873529 |
594 | P>S | No |
ClinGen gnomAD |
|
rs1379741593 CA399873543 |
595 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1304692188 CA399873536 |
595 | P>T | No |
ClinGen gnomAD |
|
rs1395362880 CA399873552 |
596 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs1395362880 CA399873555 |
596 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA399873589 rs1567969752 |
599 | G>E | No |
ClinGen Ensembl |
|
CA8612885 rs763054769 |
599 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399873586 rs763054769 |
599 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1228949181 CA399873603 |
600 | P>L | No |
ClinGen gnomAD |
|
CA399873613 rs1258888850 |
601 | V>A | No |
ClinGen TOPMed |
|
CA399873616 rs1258888850 |
601 | V>G | No |
ClinGen TOPMed |
|
CA399873610 rs1424854837 |
601 | V>L | No |
ClinGen TOPMed |
|
rs1019213170 CA291050423 |
602 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA291050420 rs1008691820 |
602 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1289848416 CA399873646 |
603 | P>L | No |
ClinGen gnomAD |
|
CA399873657 rs1256048685 |
604 | P>L | No |
ClinGen gnomAD |
|
rs1241890918 CA399873667 |
605 | P>L | No |
ClinGen gnomAD |
|
CA399873663 rs1200380409 |
605 | P>S | No |
ClinGen gnomAD |
|
CA399873689 rs1389739605 |
607 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA399873705 rs1426984384 |
608 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA399873734 rs1472577744 |
610 | P>L | No |
ClinGen TOPMed |
|
rs1472577744 CA399873733 |
610 | P>R | No |
ClinGen TOPMed |
|
rs1261989429 CA399873740 |
611 | P>S | No |
ClinGen Ensembl |
|
rs1465666959 CA399873750 |
612 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA399873747 rs1266952635 |
612 | P>S | No |
ClinGen TOPMed |
|
rs1598207478 CA399873757 |
614 | G>S | No |
ClinGen Ensembl |
|
rs1435462948 CA399873767 |
615 | P>R | No |
ClinGen gnomAD |
|
CA399873776 rs1296642758 |
616 | P>R | No |
ClinGen gnomAD |
|
rs1359374317 CA399873779 |
617 | D>N | No |
ClinGen gnomAD |
|
CA399873815 rs1220561565 |
619 | L>P | No |
ClinGen gnomAD |
|
rs1311088549 CA399873847 |
622 | R>G | No |
ClinGen gnomAD |
|
rs767507016 CA399873854 |
622 | R>H | No |
ClinGen ExAC gnomAD |
|
rs767507016 CA8612895 |
622 | R>L | No |
ClinGen ExAC gnomAD |
|
rs1258795251 CA399873901 |
626 | L>S | No |
ClinGen TOPMed |
|
rs750316481 CA8612896 |
628 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766367035 CA8612916 |
630 | V>L | No |
ClinGen ExAC gnomAD |
|
rs376978325 CA8612917 |
632 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8612921 rs752331026 |
633 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8612919 rs778476856 |
633 | K>R | No |
ClinGen ExAC gnomAD |
|
CA8612924 rs770151475 |
639 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA399874205 rs1567970335 |
646 | N>K | No |
ClinGen Ensembl |
|
rs1359240457 CA399874225 |
648 | V>M | No |
ClinGen gnomAD |
|
rs1483388713 CA399874277 |
652 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA399874300 rs1231062141 |
654 | Q>* | No |
ClinGen gnomAD |
|
rs780265965 CA291050570 |
654 | Q>H | No |
ClinGen Ensembl |
|
rs369374854 CA8612927 |
656 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8612931 rs773120228 |
664 | N>S | No |
ClinGen ExAC gnomAD |
|
CA399874460 rs1428468465 |
666 | E>G | No |
ClinGen gnomAD |
|
CA291050584 rs11555736 |
667 | K>E | No |
ClinGen Ensembl |
|
rs766165718 CA8612933 |
667 | K>T | No |
ClinGen ExAC gnomAD |
|
rs1285346859 CA399874507 |
670 | Q>K | No |
ClinGen TOPMed gnomAD |
|
rs1181551870 CA399874513 |
670 | Q>R | No |
ClinGen TOPMed |
|
CA399875551 rs1389984189 |
671 | E>Q | No |
ClinGen gnomAD |
|
rs1478029492 CA399875580 |
673 | D>N | No |
ClinGen gnomAD |
|
rs1289821901 CA399875596 |
674 | M>L | No |
ClinGen TOPMed |
|
rs775215714 CA8612954 |
675 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399875672 rs1429139126 |
677 | F>S | No |
ClinGen gnomAD |
|
rs763585700 CA8612956 |
680 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8612957 rs530324471 |
682 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs756927704 CA8612958 |
685 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767106750 CA8612960 |
689 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767106750 CA8612959 |
689 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1282755238 CA399875896 |
690 | L>V | No |
ClinGen gnomAD |
|
CA8612961 rs147957951 |
692 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA399875952 rs779599301 |
693 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs76949926 CA8612963 |
694 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1448941080 CA399875981 |
695 | L>R | No |
ClinGen gnomAD |
|
rs1451842144 CA399876100 |
703 | A>D | No |
ClinGen TOPMed gnomAD |
|
rs1451842144 CA399876096 |
703 | A>G | No |
ClinGen TOPMed gnomAD |
|
rs778060319 CA8612965 |
704 | P>S | No |
ClinGen ExAC gnomAD |
|
CA8612966 rs563838155 |
706 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs370784492 CA8612967 |
707 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA399876170 rs1453413599 |
708 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA399876171 rs1453413599 |
708 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs745966484 CA8612969 |
710 | I>T | No |
ClinGen ExAC gnomAD |
|
CA8612971 rs775410415 |
713 | N>S | No |
ClinGen ExAC gnomAD |
|
rs762595987 CA8612972 |
714 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1302823411 CA399876242 |
714 | R>W | No |
ClinGen gnomAD |
|
CA399876352 rs1598209649 |
721 | T>P | No |
ClinGen Ensembl |
|
rs1221835506 CA399876376 |
723 | R>Q | No |
ClinGen gnomAD |
|
rs1236549310 CA399876373 |
723 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA399876414 rs1266964463 |
725 | G>V | No |
ClinGen gnomAD |
|
CA8612975 rs146935438 |
730 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377137839 CA8612976 |
731 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs749913183 CA8612977 |
731 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1180352819 CA399876525 |
734 | Q>H | No |
ClinGen gnomAD |
|
CA8612978 rs760270356 |
734 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA399876521 rs1419028293 |
734 | Q>P | No |
ClinGen gnomAD |
|
CA8612979 rs765786466 |
737 | E>V | No |
ClinGen ExAC gnomAD |
|
rs955601103 CA291053105 |
738 | A>S | No |
ClinGen gnomAD |
|
rs973119713 CA291053107 |
738 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA8612996 rs760464589 |
739 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA8612998 rs753325510 |
740 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1598210564 CA399876689 |
742 | Q>K | No |
ClinGen Ensembl |
|
CA8612999 rs201901138 |
743 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8613001 rs751908102 |
745 | G>S | No |
ClinGen ExAC gnomAD |
|
CA8613003 rs781333055 |
748 | F>C | No |
ClinGen ExAC gnomAD |
|
CA8613002 rs757622766 |
748 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1174247103 CA399876833 |
751 | L>M | No |
ClinGen gnomAD |
|
rs756393210 CA8613005 |
753 | M>V | No |
ClinGen ExAC gnomAD |
|
CA8613006 rs780161644 |
754 | R>C | No |
ClinGen ExAC gnomAD |
|
rs780161644 CA8613007 |
754 | R>G | No |
ClinGen ExAC gnomAD |
|
CA8613008 rs768597957 |
754 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773211654 CA8613012 |
760 | Y>C | No |
ClinGen ExAC |
|
rs771982074 CA8613011 |
760 | Y>D | No |
ClinGen ExAC gnomAD |
|
CA8613013 rs140767111 |
762 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs770753366 CA8613014 |
762 | R>H | No |
ClinGen ExAC gnomAD |
|
CA8613015 rs776153031 |
763 | S>G | No |
ClinGen ExAC gnomAD |
|
CA399877056 rs1216976473 |
765 | I>F | No |
ClinGen gnomAD |
|
rs1260313959 CA399877072 |
766 | T>N | No |
ClinGen gnomAD |
|
CA8613016 rs201792365 |
767 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150127230 CA8613017 |
767 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA399877081 rs150127230 |
767 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1750089 rs938536726 CA291053310 |
770 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs774732222 CA8613018 |
770 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762365100 CA8613019 |
771 | E>G | No |
ClinGen ExAC gnomAD |
|
rs1414092802 CA399877133 |
772 | Q>K | No |
ClinGen gnomAD |
|
rs1422624335 CA399877155 |
773 | R>Q | No |
ClinGen TOPMed |
|
CA8613020 rs371426654 |
773 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8613022 rs756280599 |
775 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8613021 rs201146629 |
775 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs766542702 CA8613023 |
776 | E>* | No |
ClinGen ExAC gnomAD |
|
rs531139502 CA291053324 |
776 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8613024 rs531139502 |
776 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA399877275 rs1598210910 |
782 | D>A | No |
ClinGen Ensembl |
|
CA8613026 rs779109591 |
783 | R>C | No |
ClinGen ExAC gnomAD |
|
rs545973902 CA8613027 |
783 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1305354353 CA399877318 |
785 | M>I | No |
ClinGen gnomAD |
|
rs138585179 CA8613028 |
788 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA399877374 rs1196016475 |
790 | R>C | No |
ClinGen TOPMed |
|
rs112546177 CA8613030 |
790 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs112546177 CA399877376 |
790 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8613031 COSM1479660 rs770575234 |
792 | P>L | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1049942929 COSM1644616 CA291053339 |
793 | R>C | salivary_gland [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA8613033 rs376185893 |
795 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA399877423 rs1425409048 |
795 | P>S | No |
ClinGen gnomAD |
|
CA399877439 rs1422164677 |
796 | E>G | No |
ClinGen gnomAD |
|
CA291053346 rs1006652541 |
796 | E>K | No |
ClinGen TOPMed |
|
CA8613036 rs138140582 |
797 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1679877 rs768034689 CA8613038 |
797 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs768034689 CA8613037 |
797 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs867770416 CA291053357 |
798 | M>I | No |
ClinGen Ensembl |
|
CA8613039 rs200065435 |
808 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399877612 rs1243814433 |
809 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA399877621 rs1431799553 |
810 | T>R | No |
ClinGen gnomAD |
|
CA399877623 rs1275182718 |
811 | A>T | No |
ClinGen gnomAD |
|
rs142695981 CA8613041 |
812 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
CA8613042 rs755296947 |
813 | L>M | No |
ClinGen ExAC gnomAD |
|
CA399877688 rs1231111963 |
816 | P>L | No |
ClinGen gnomAD |
|
CA291053373 COSM560953 rs867659204 |
816 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs1187333085 CA399877744 |
817 | Q>E | No |
ClinGen TOPMed |
|
CA8613066 rs751528209 |
819 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399877814 rs1450925557 |
822 | I>T | No |
ClinGen gnomAD |
|
rs1230055512 CA399877828 |
823 | A>G | No |
ClinGen gnomAD |
|
rs750281251 CA8613069 |
826 | M>V | No |
ClinGen ExAC gnomAD |
|
CA291053440 rs924585621 |
828 | I>V | No |
ClinGen Ensembl |
|
CA8613071 rs375366550 |
829 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
CA399877915 rs1274890491 |
829 | K>R | No |
ClinGen gnomAD |
|
rs1262504603 CA399877970 |
832 | D>E | No |
ClinGen gnomAD |
|
rs1321066530 CA399878013 |
835 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA8613073 rs768142969 |
836 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA399878066 rs1284457108 |
839 | E>K | No |
ClinGen gnomAD |
|
CA399878065 rs1284457108 |
839 | E>Q | No |
ClinGen gnomAD |
|
CA399879412 rs1189352173 |
840 | I>V | No |
ClinGen gnomAD |
|
CA399879440 rs1271364656 |
843 | A>T | No |
ClinGen TOPMed |
|
rs764262508 CA8613082 |
844 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399879531 rs1423011824 |
848 | M>I | No |
ClinGen TOPMed gnomAD |
|
CA8613083 rs777832776 |
848 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777832776 CA399879514 |
848 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767522144 CA8613085 |
853 | R>C | No |
ClinGen ExAC gnomAD |
|
rs750118534 CA8613086 |
853 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755952090 CA8613087 |
855 | A>P | No |
ClinGen ExAC gnomAD |
|
rs774880082 CA291053602 |
856 | A>V | No |
ClinGen Ensembl |
|
CA399879703 COSM3691625 rs1329541247 |
857 | Y>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1316661489 CA399879760 |
860 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs201789328 CA8613090 |
866 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8613104 rs760674178 |
870 | M>I | No |
ClinGen ExAC gnomAD |
|
rs773190000 CA8613103 |
870 | M>T | No |
ClinGen ExAC gnomAD |
|
CA399880021 rs1334216884 |
872 | S>L | No |
ClinGen TOPMed |
|
rs753685956 CA8613106 |
874 | D>N | No |
ClinGen ExAC gnomAD |
|
CA8613107 rs754579127 |
875 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8613108 rs764905564 |
875 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1278665149 CA399880074 |
876 | K>E | No |
ClinGen TOPMed |
|
rs752076747 CA8613109 |
878 | T>M | No |
ClinGen ExAC gnomAD |
|
rs777203363 CA8613111 |
879 | L>V | No |
ClinGen ExAC gnomAD |
|
CA8613112 rs746379373 |
881 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA399880256 rs1567973323 |
887 | I>L | No |
ClinGen Ensembl |
|
rs1440130320 CA399880292 |
888 | A>V | No |
ClinGen TOPMed |
|
CA399880295 rs1598212936 |
889 | E>K | No |
ClinGen Ensembl |
|
CA399880327 rs929657813 |
890 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA8613113 rs756724766 |
891 | Y>D | No |
ClinGen ExAC gnomAD |
|
CA399880339 rs1598212974 |
891 | Y>S | No |
ClinGen Ensembl |
|
rs1463982347 CA399880354 |
892 | P>A | No |
ClinGen gnomAD |
|
CA8613114 rs780542974 |
892 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8613115 rs749692341 |
893 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA8613116 rs768933779 |
896 | G>V | No |
ClinGen ExAC gnomAD |
|
CA8613120 rs376766535 |
900 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs533362698 CA8613122 |
902 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA399880521 rs1265611166 |
902 | H>R | No |
ClinGen gnomAD |
|
CA8613121 rs562693449 |
902 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA399880565 rs1204975227 |
905 | D>N | No |
ClinGen gnomAD |
|
CA399880621 rs1466671388 |
908 | G>C | No |
ClinGen gnomAD |
|
rs141887433 CA8613147 |
913 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA291053757 rs1044059525 |
914 | S>G | No |
ClinGen TOPMed gnomAD |
|
rs751074259 CA8613148 |
915 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA291053762 rs1002636776 |
917 | A>T | No |
ClinGen Ensembl |
|
CA8613149 rs150643495 |
917 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1360618342 CA399880748 |
918 | D>V | No |
ClinGen TOPMed |
|
rs1378125033 CA399880759 |
920 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA8613152 rs755479906 COSM1383789 |
920 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1567973665 CA399880769 |
922 | L>V | No |
ClinGen Ensembl |
|
rs753028987 CA8613154 |
924 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374954022 CA8613155 |
925 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1229565731 CA399880817 |
930 | Q>E | No |
ClinGen gnomAD |
|
CA8613156 rs777867078 |
930 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1224698219 CA399880843 |
933 | F>S | No |
ClinGen gnomAD |
|
rs377725425 CA399880852 |
935 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA399880853 rs1351822937 |
935 | R>Q | No |
ClinGen gnomAD |
|
CA8613157 rs377725425 |
935 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1292556709 CA399880860 |
936 | Q>R | No |
ClinGen gnomAD |
|
rs781312546 CA8613159 |
942 | L>F | No |
ClinGen ExAC |
|
CA399880912 rs1451162967 |
943 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs1011860629 CA291053790 |
946 | L>V | No |
ClinGen Ensembl |
|
CA399880943 rs1476471320 |
948 | A>T | No |
ClinGen TOPMed |
|
CA399880953 rs1480810131 |
949 | N>S | No |
ClinGen TOPMed gnomAD |
|
COSM3402943 CA8613162 rs775304686 |
950 | S>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1021453769 CA291053797 |
951 | P>S | No |
ClinGen Ensembl |
|
rs1446065231 CA399880984 |
954 | D>Y | No |
ClinGen gnomAD |
|
rs1403103144 CA399881013 |
958 | A>V | No |
ClinGen gnomAD |
|
rs147281184 CA8613165 |
959 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs761626118 CA8613166 |
961 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8613167 rs767106626 |
962 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399881038 rs750004915 |
962 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750004915 CA8613168 |
962 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774659812 CA8613212 |
965 | E>G | No |
ClinGen ExAC gnomAD |
|
rs761065324 CA291053911 |
966 | A>V | No |
ClinGen Ensembl |
|
CA399881123 rs1258560359 |
968 | E>D | No |
ClinGen TOPMed |
|
rs762170948 CA8613214 |
974 | F>Y | No |
ClinGen ExAC gnomAD |
|
CA8613215 rs544427015 |
975 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA399881188 rs1316660672 |
978 | P>A | No |
ClinGen TOPMed |
|
CA399881189 rs1316660672 |
978 | P>S | No |
ClinGen TOPMed |
|
rs750598051 CA8613216 |
979 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8613217 rs760997426 |
980 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399881200 rs1598214305 |
980 | T>P | No |
ClinGen Ensembl |
|
CA399881216 rs1381177347 |
982 | S>F | No |
ClinGen gnomAD |
|
CA399881218 rs945650795 |
983 | P>A | No |
ClinGen TOPMed gnomAD |
|
rs945650795 CA291053921 |
983 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1393028157 CA399881224 |
984 | G>D | No |
ClinGen TOPMed |
|
CA291053923 rs1043681001 |
984 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs754924270 CA8613222 |
990 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1329066576 CA399881265 |
990 | F>L | No |
ClinGen gnomAD |
|
CA291053935 rs201948794 |
991 | S>G | No |
ClinGen 1000Genomes |
|
CA8613223 rs778995612 |
992 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8613224 rs145693762 |
992 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
CA291053942 rs560470776 |
994 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8613225 rs560470776 |
994 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA399881303 rs1237574342 |
996 | A>G | No |
ClinGen gnomAD |
|
rs1366834705 CA399881341 |
1000 | A>T | No |
ClinGen gnomAD |
|
rs1171384730 CA399881349 |
1001 | E>* | No |
ClinGen gnomAD |
|
rs1379483740 CA399881378 |
1005 | E>* | No |
ClinGen gnomAD |
|
CA8613246 rs780903704 |
1006 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA291054004 rs914087894 |
1006 | Q>P | No |
ClinGen TOPMed gnomAD |
|
rs1309933440 CA399881397 |
1007 | W>* | No |
ClinGen gnomAD |
|
rs745326051 CA8613247 |
1010 | E>K | No |
ClinGen ExAC gnomAD |
|
rs769281801 CA8613248 |
1011 | A>T | No |
ClinGen ExAC gnomAD |
|
CA8613250 rs748632258 |
1012 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399881437 rs1197164603 |
1013 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA8613251 rs772655362 |
1014 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773406820 CA8613252 |
1015 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1313278764 CA399881457 |
1016 | A>V | No |
ClinGen TOPMed |
|
rs1254168226 CA399881460 |
1017 | G>D | No |
ClinGen gnomAD |
|
CA8613253 rs143059535 |
1017 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs143059535 CA8613254 |
1017 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8613256 rs201370247 COSM1207295 |
1018 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs151174346 CA8613258 |
1021 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs151174346 CA8613259 |
1021 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA399881490 rs1465219444 |
1022 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA399881486 rs1359578900 |
1022 | G>S | No |
ClinGen gnomAD |
|
rs1598214971 CA399881492 |
1023 | K>Q | No |
ClinGen Ensembl |
|
rs751247758 CA8613261 |
1024 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757090305 CA399881505 |
1025 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757090305 CA8613262 |
1025 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8613263 rs767275037 COSM1710385 |
1027 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA291054032 rs765383101 |
1027 | P>S | No |
ClinGen Ensembl |
|
CA399881522 rs1195770774 |
1028 | A>T | No |
ClinGen TOPMed |
|
rs1318650247 CA399881531 |
1029 | P>L | No |
ClinGen TOPMed |
|
CA8613265 rs534181387 |
1029 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA8613309 rs757747056 |
1032 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399882364 rs1450511148 |
1033 | P>S | No |
ClinGen gnomAD |
|
rs1384947964 CA399882405 |
1035 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs199676283 CA291054122 |
1035 | A>V | No |
ClinGen 1000Genomes |
|
rs750761402 CA399882416 |
1036 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs142743370 CA8613312 |
1036 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs750761402 CA8613311 |
1036 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780634604 CA8613313 |
1037 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs946995269 CA291054128 |
1037 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA399882494 rs1598215809 |
1041 | D>N | No |
ClinGen Ensembl |
|
rs768810674 CA399882544 |
1044 | S>C | No |
ClinGen ExAC gnomAD |
|
rs768810674 CA8613315 |
1044 | S>F | No |
ClinGen ExAC gnomAD |
|
rs779009445 CA8613316 |
1048 | R>G | No |
ClinGen ExAC gnomAD |
|
rs150981509 CA8613317 |
1048 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs779009445 CA291054142 |
1048 | R>W | No |
ClinGen ExAC gnomAD |
|
CA8613319 rs773117099 |
1049 | R>K | No |
ClinGen ExAC gnomAD |
|
CA291054150 rs200730343 |
1052 | K>Q | No |
ClinGen TOPMed gnomAD |
|
CA8613320 rs760670070 |
1056 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1170369143 CA399882776 |
1059 | S>G | No |
ClinGen gnomAD |
|
rs1233516687 CA399882780 |
1059 | S>N | No |
ClinGen TOPMed |
|
rs35569365 CA399882791 |
1059 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs181564542 CA8613322 |
1060 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs181564542 CA8613323 |
1060 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA291054157 rs923283973 |
1061 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA399882831 rs1598215945 |
1062 | D>N | No |
ClinGen Ensembl |
|
rs1298489561 CA399882856 |
1063 | G>R | No |
ClinGen TOPMed |
|
CA399883833 rs1370317879 |
1073 | K>Q | No |
ClinGen gnomAD |
|
rs775396711 CA8613366 |
1074 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775396711 CA399883859 |
1074 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA399883872 rs1567975480 |
1076 | P>H | No |
ClinGen Ensembl |
|
rs748927571 CA8613367 |
1077 | F>C | No |
ClinGen ExAC gnomAD |
|
CA8613369 rs768445927 |
1078 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768445927 CA8613368 |
1078 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1331562332 CA399883921 |
1079 | A>D | No |
ClinGen gnomAD |
|
COSM980130 rs761421986 CA399883935 |
1080 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA8613370 rs761421986 |
1080 | R>P | No |
ClinGen ExAC gnomAD |
|
rs767111106 CA8613372 |
1081 | T>S | No |
ClinGen ExAC gnomAD |
|
rs1399567544 CA399883968 |
1082 | G>A | No |
ClinGen TOPMed |
|
CA399883957 rs1340627486 |
1082 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA399883974 rs1332130709 |
1083 | K>Q | No |
ClinGen TOPMed |
|
rs760126685 CA8613375 |
1084 | R>P | No |
ClinGen ExAC gnomAD |
|
rs370763888 CA291054265 |
1087 | R>Q | No |
ClinGen gnomAD |
|
CA399884038 rs1467307071 |
1087 | R>W | No |
ClinGen TOPMed |
|
CA291054268 rs896139824 |
1089 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs1259153511 CA399884113 |
1092 | A>D | No |
ClinGen gnomAD |
|
CA399884121 rs1164404485 |
1093 | S>G | No |
ClinGen TOPMed |
|
CA291054276 rs1013246358 |
1095 | G>V | No |
ClinGen TOPMed |
|
rs1443079375 CA399884240 |
1101 | L>E | No |
ClinGen gnomAD |
|
rs1415727757 CA399884243 |
1101 | L>W | No |
ClinGen TOPMed |
No associated diseases with O95466
5 regional properties for O95466
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Formin, FH3 domain | 284 - 637 | IPR010472 |
domain | Formin, GTPase-binding domain | 27 - 281 | IPR010473 |
domain | Diaphanous autoregulatory (DAD) domain | 1059 - 1090 | IPR014767 |
domain | Rho GTPase-binding/formin homology 3 (GBD/FH3) domain | 27 - 468 | IPR014768 |
domain | Formin, FH2 domain | 632 - 1067 | IPR015425 |
Functions
7 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)] |
cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
phagocytic vesicle | A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 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. |
GTPase activating protein binding | Binding to a GTPase activating protein. |
small GTPase binding | Binding to a small monomeric GTPase. |
4 GO annotations of biological process
Name | Definition |
---|---|
actin filament severing | The process in which an actin filament is broken down into smaller filaments. |
cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
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. |
regulation of cell shape | Any process that modulates the surface configuration of a cell. |
18 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 |
Q9VUC6 | Frl | Formin-like protein | Drosophila melanogaster (Fruit fly) | EV |
Q27J81 | INF2 | Inverted formin-2 | Homo sapiens (Human) | EV |
Q9Y4D1 | DAAM1 | Disheveled-associated activator of morphogenesis 1 | Homo sapiens (Human) | EV |
Q86T65 | DAAM2 | Disheveled-associated activator of morphogenesis 2 | Homo sapiens (Human) | SS |
Q8IVF7 | FMNL3 | Formin-like protein 3 | Homo sapiens (Human) | SS |
Q96PY5 | FMNL2 | Formin-like protein 2 | Homo sapiens (Human) | SS |
Q80U19 | Daam2 | Disheveled-associated activator of morphogenesis 2 | Mus musculus (Mouse) | SS |
Q8BPM0 | Daam1 | Disheveled-associated activator of morphogenesis 1 | Mus musculus (Mouse) | PR |
Q0GNC1 | Inf2 | Inverted formin-2 | Mus musculus (Mouse) | SS |
Q0QWG9 | Grid2ip | Delphilin | Mus musculus (Mouse) | PR |
A2APV2 | Fmnl2 | Formin-like protein 2 | Mus musculus (Mouse) | SS |
Q6ZPF4 | Fmnl3 | Formin-like protein 3 | Mus musculus (Mouse) | SS |
Q9JL26 | Fmnl1 | Formin-like protein 1 | Mus musculus (Mouse) | SS |
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 |
MGNAAGSAEQ | PAGPAAPPPK | QPAPPKQPMP | AAGELEERFN | RALNCMNLPP | DKVQLLSQYD |
70 | 80 | 90 | 100 | 110 | 120 |
NEKKWELICD | QERFQVKNPP | AAYIQKLKSY | VDTGGVSRKV | AADWMSNLGF | KRRVQESTQV |
130 | 140 | 150 | 160 | 170 | 180 |
LRELETSLRT | NHIGWVQEFL | NEENRGLDVL | LEYLAFAQCS | VTYDMESTDN | GASNSEKNKP |
190 | 200 | 210 | 220 | 230 | 240 |
LEQSVEDLSK | GPPSSVPKSR | HLTIKLTPAH | SRKALRNSRI | VSQKDDVHVC | IMCLRAIMNY |
250 | 260 | 270 | 280 | 290 | 300 |
QSGFSLVMNH | PACVNEIALS | LNNKNPRTKA | LVLELLAAVC | LVRGGHDIIL | AAFDNFKEVC |
310 | 320 | 330 | 340 | 350 | 360 |
GEQHRFEKLM | EYFRNEDSNI | DFMVACMQFI | NIVVHSVENM | NFRVFLQYEF | THLGLDLYLE |
370 | 380 | 390 | 400 | 410 | 420 |
RLRLTESDKL | QVQIQAYLDN | IFDVGALLED | TETKNAVLEH | MEELQEQVAL | LTERLRDAEN |
430 | 440 | 450 | 460 | 470 | 480 |
ESMAKIAELE | KQLSQARKEL | ETLRERFSES | TAMGPSRRPP | EPEKAPPAAP | TRPSALELKV |
490 | 500 | 510 | 520 | 530 | 540 |
EELEEKGLIR | ILRGPGDAVS | IEILPVAVAT | PSGGDAPTPG | VPTGSPSPDL | APAAEPAPGA |
550 | 560 | 570 | 580 | 590 | 600 |
APPPPPPLPG | LPSPQEAPPS | APPQAPPLPG | SPEPPPAPPL | PGDLPPPPPP | PPPPPGTDGP |
610 | 620 | 630 | 640 | 650 | 660 |
VPPPPPPPPP | PPGGPPDALG | RRDSELGPGV | KAKKPIQTKF | RMPLLNWVAL | KPSQITGTVF |
670 | 680 | 690 | 700 | 710 | 720 |
TELNDEKVLQ | ELDMSDFEEQ | FKTKSQGPSL | DLSALKSKAA | QKAPSKATLI | EANRAKNLAI |
730 | 740 | 750 | 760 | 770 | 780 |
TLRKGNLGAE | RICQAIEAYD | LQALGLDFLE | LLMRFLPTEY | ERSLITRFER | EQRPMEELSE |
790 | 800 | 810 | 820 | 830 | 840 |
EDRFMLCFSR | IPRLPERMTT | LTFLGNFPDT | AQLLMPQLNA | IIAASMSIKS | SDKLRQILEI |
850 | 860 | 870 | 880 | 890 | 900 |
VLAFGNYMNS | SKRGAAYGFR | LQSLDALLEM | KSTDRKQTLL | HYLVKVIAEK | YPQLTGFHSD |
910 | 920 | 930 | 940 | 950 | 960 |
LHFLDKAGSV | SLDSVLADVR | SLQRGLELTQ | REFVRQDDCM | VLKEFLRANS | PTMDKLLADS |
970 | 980 | 990 | 1000 | 1010 | 1020 |
KTAQEAFESV | VEYFGENPKT | TSPGLFFSLF | SRFIKAYKKA | EQEVEQWKKE | AAAQEAGADT |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
PGKGEPPAPK | SPPKARRPQM | DLISELKRRQ | QKEPLIYESD | RDGAIEDIIT | VIKTVPFTAR |
1090 | |||||
TGKRTSRLLC | EASLGEEMPL |