P16234
EV
Gene name |
PDGFRA (PDGFR2, RHEPDGFRA) |
Protein name |
Platelet-derived growth factor receptor alpha |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5156 |
EC number |
2.7.10.1: Protein-tyrosine kinases |
Protein Class |
TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416) |
Descriptions
Platelet-derived growth factor receptor α (PDGF-Rα, PDGFR-2) is one of the PDGF receptor family of RTKs (receptor tyrosine kinase). Members of the PDGF receptor family share strong sequence similarity throughout the juxtamembrane region, which contains two Tyr autophosphorylation sites in a YφY motif. Numerous naturally occurring mutations (typically deletions) in the juxtamembrane regions of PDGFRα result in constitutive kinase activity. Deletions and missense mutations in the juxtamembrane region of PDGF receptor family members would be predicted to disrupt the interactions that stabilize the autoinhibitory conformation of the juxtamembrane region.
Autoinhibitory domains (AIDs)
Target domain |
593-954 (Protein kinase domain) |
Relief mechanism |
Ligand binding |
Assay |
Deletion assay, Mutagenesis experiment, Structural analysis |
Accessory elements
835-860 (Activation loop from InterPro)
Target domain |
593-954 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
15 structures for P16234
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1GQ5 | X-ray | 220 A | PDB | ||
| 5GRN | X-ray | 177 A | A | 550-973 | PDB |
| 5K5X | X-ray | 217 A | A | 550-973 | PDB |
| 6A32 | X-ray | 187 A | A | 550-973 | PDB |
| 6JOI | X-ray | 310 A | A | 550-973 | PDB |
| 6JOJ | X-ray | 260 A | A | 550-973 | PDB |
| 6JOK | X-ray | 380 A | A | 550-973 | PDB |
| 6JOL | X-ray | 190 A | A | 550-973 | PDB |
| 7LBF | EM | 280 A | D | 1-524 | PDB |
| 7RAM | EM | 343 A | D | 1-524 | PDB |
| 8PQH | X-ray | 250 A | A | 550-973 | PDB |
| 8PQI | X-ray | 260 A | A | 550-973 | PDB |
| 8PQJ | X-ray | 182 A | A | 550-973 | PDB |
| 8PQK | X-ray | 200 A | A | 550-973 | PDB |
| AF-P16234-F1 | Predicted | AlphaFoldDB |
916 variants for P16234
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2922193 rs138929755 RCV000633792 |
4 | S>C | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA356888056 rs138929755 RCV000545506 |
4 | S>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs138929755 CA2922194 RCV000705127 |
4 | S>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000234684 rs754092062 RCV001013223 RCV001145844 CA2922197 |
6 | P>L | Idiopathic hypereosinophilic syndrome Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764472307 RCV000633759 CA356888071 COSM94949 |
7 | A>E | lung Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764472307 RCV000232147 CA2922200 |
7 | A>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16611451 RCV000460861 rs1060501519 |
10 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1440200916 RCV001339045 CA356888101 |
12 | G>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000461163 CA161411 rs587778596 RCV000121786 |
16 | T>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2922226 RCV000540572 rs766600687 |
17 | G>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553902342 RCV000633814 CA356888159 |
20 | L>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA96847142 RCV000543350 rs975510328 |
22 | L>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1560466532 RCV000802927 |
27 | L>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001027180 CA2922228 rs758425314 |
27 | L>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001061916 rs1722678008 |
28 | P>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000121792 CA161429 RCV001854668 rs587778600 |
29 | S>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2922231 rs780747709 RCV000472004 |
30 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs936241714 CA16611453 COSM345639 RCV000466810 |
32 | P>T | lung Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
CA161426 RCV000458123 rs200979664 RCV000121791 |
33 | N>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2922232 RCV000470819 rs769386190 |
35 | N>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000633808 CA356888272 rs1553902353 |
37 | K>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356888273 rs1560466594 RCV000706455 |
38 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553902356 CA356888278 RCV000633757 |
39 | V>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000633798 CA356888294 rs1341010273 |
41 | L>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2922237 rs149408217 RCV000474628 |
45 | F>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000633805 rs1553902375 CA356888337 |
48 | R>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1577705147 RCV001012031 |
52 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000633782 CA356888386 rs773412686 |
55 | V>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587778601 RCV000533882 RCV000121793 CA161432 |
56 | S>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060501504 RCV000467799 CA16611446 |
68 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA356888486 rs1363843815 RCV000633844 |
69 | V>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA356888500 rs1553902408 RCV000633776 |
71 | I>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356888537 rs1285564229 RCV000552021 |
75 | E>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553902415 CA356888554 RCV000633843 |
76 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000633779 CA356888569 rs1553902417 |
77 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356888582 rs1560466833 RCV000704776 |
78 | S>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA161435 rs36035373 VAR_042032 RCV000204869 RCV000210787 RCV000034719 RCV000262832 RCV000121794 |
79 | G>D | Idiopathic hypereosinophilic syndrome Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA356888591 RCV000633800 rs1333247214 |
79 | G>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs779332376 RCV000474089 CA2922251 |
83 | T>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs773726970 CA2922254 RCV000633717 |
86 | E>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs773726970 RCV000702552 CA356888679 |
86 | E>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16611631 rs1060501515 RCV000475902 |
88 | S>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2922256 RCV000539821 rs538480165 |
91 | S>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000633716 CA2922258 rs759729258 |
92 | A>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs750282565 CA2922263 RCV000633823 |
94 | H>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs878854829 CA10582229 RCV000232670 |
108 | E>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM1220050 rs1577705804 RCV001019635 CA356888969 |
109 | E>D | large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA356889028 RCV000703510 rs1560467103 |
114 | G>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000633834 CA96848961 rs918962982 |
124 | P>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001873340 CA356889598 RCV001021016 rs762935664 |
125 | D>Y | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000227624 CA10582230 rs759705682 |
127 | A>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000468425 rs373126818 CA2922281 COSM587621 |
134 | T>M | lung Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs766197882 RCV001021776 CA2922284 |
135 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs766197882 CA2922283 RCV000688541 |
135 | D>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2922288 rs574683248 RCV000705589 |
140 | V>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs574683248 RCV000633789 CA2922289 COSM1220051 |
140 | V>M | pancreas large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA356889779 RCV000633833 rs1187957560 COSM402443 |
141 | E>D | lung Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
CA356889806 RCV000526325 rs1553902692 |
143 | D>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1560468932 RCV000695356 CA356889817 |
145 | S>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000534210 CA356889826 rs1249349361 |
146 | A>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1173137221 CA356889847 RCV000633765 |
150 | C>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060501501 COSM276698 RCV000475355 CA16611452 |
151 | R>H | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000633770 rs749430582 CA2922296 |
152 | T>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1577709338 RCV001022742 CA356889866 |
153 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2922299 RCV000470048 rs760631068 |
156 | E>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356889894 rs1553902717 RCV000551511 |
157 | T>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs576890188 RCV000527534 CA356889934 |
163 | N>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1360565030 RCV000698378 CA356889931 |
163 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs776491556 CA356889941 RCV000633802 |
164 | S>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000227178 CA161441 rs587778602 RCV000121796 |
167 | V>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356889961 rs752270672 RCV000687645 |
168 | V>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs763718380 CA2922305 RCV000230573 |
173 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000553051 rs1207595829 CA356890000 |
174 | S>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs139217250 CA96849162 RCV000633840 |
176 | Q>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000689288 CA356890050 rs746299618 |
181 | T>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000698331 rs367711512 CA96849169 |
184 | V>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1560469226 CA356890068 RCV000707244 |
184 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1560469226 RCV000700820 CA356890067 |
184 | V>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000529330 rs267600185 CA2922312 |
191 | A>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2922314 COSM48643 rs774431464 RCV000704554 |
193 | V>I | lung Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200484286 CA2922316 COSM1056048 RCV000546356 |
197 | K>T | endometrium Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1018795199 CA16611546 RCV000462670 |
198 | F>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000034722 RCV000121795 RCV000228399 rs149951350 CA161438 RCV000284407 |
200 | T>S | Idiopathic hypereosinophilic syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553902754 CA356890194 RCV000554525 |
204 | N>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001873388 rs775304724 RCV001024931 CA2922319 |
205 | V>I | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs761446758 CA356890644 RCV000535429 |
210 | A>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1560470251 RCV000689422 CA356890663 |
211 | T>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000685223 CA356890687 rs1461389031 |
213 | E>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1230177198 CA356890774 RCV000560573 |
219 | E>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs139913632 CA161444 RCV000290148 RCV000121797 RCV000034723 RCV000204480 |
221 | L>F | Idiopathic hypereosinophilic syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000693730 CA356890840 rs1248275606 |
224 | V>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000536629 CA356890841 rs1248275606 |
224 | V>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs878854831 RCV000231929 CA10582233 |
225 | Y>C | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000549404 CA356890942 rs1553902944 |
240 | N>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000226332 rs878854832 CA10582234 |
241 | E>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs774246071 CA2922362 RCV000229176 |
243 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000457715 CA2922364 rs771701353 |
251 | G>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553902958 RCV000538111 CA356891026 |
252 | E>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553903204 CA356891056 RCV000633763 |
255 | G>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1723079151 RCV001324540 |
257 | G>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA96851860 RCV000686841 rs1039985533 |
258 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16611634 RCV000460666 rs1060501503 |
259 | T>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs376265745 RCV000633778 CA356891100 |
262 | E>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs376265745 RCV000473827 CA2922388 |
262 | E>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000525805 rs757378016 CA2922393 |
267 | P>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2922395 RCV000472082 rs140245841 |
268 | S>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000692417 rs545359247 CA2922397 |
270 | K>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000538238 CA2922398 rs747956260 |
274 | T>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs142492533 COSM1540243 CA2922400 RCV000301188 RCV000356042 |
276 | T>M | lung Idiopathic hypereosinophilic syndrome Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs776121704 RCV000633736 CA2922403 |
279 | E>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2922404 rs150927351 RCV000465878 |
280 | A>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000232711 rs770343276 CA2922405 |
281 | T>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000261218 rs541057765 CA161447 RCV000316410 RCV000121798 |
285 | S>G | Idiopathic hypereosinophilic syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA356891259 RCV000633806 rs1553903251 |
287 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs958381664 COSM170984 RCV000633819 CA96851943 |
289 | E>K | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA2922408 rs774527841 RCV000229404 |
291 | A>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs762106764 COSM236819 CA2922409 RCV000459421 |
293 | R>C | prostate Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2922411 rs373948582 RCV000633837 RCV000764536 |
293 | R>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16611635 RCV000459535 rs1060501507 |
297 | R>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA96851994 RCV000539737 rs996658686 |
300 | K>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs368648130 RCV000227792 CA2922415 |
300 | K>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000633838 rs1553903287 CA356891347 |
301 | E>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356891354 rs1060501512 RCV000552216 |
302 | M>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000465542 CA16611636 rs1060501512 |
302 | M>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1396396699 RCV000533063 CA356891377 |
305 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1408714732 RCV000687518 CA356891384 |
306 | T>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000540947 CA356891393 rs1553903298 |
307 | I>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2922441 rs138296072 RCV000467030 |
323 | Q>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001873318 RCV001019648 CA2922443 rs769276081 |
323 | Q>H | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2922442 rs769276081 RCV000558273 |
323 | Q>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs772538462 RCV000633732 CA2922445 |
328 | N>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000230626 rs878854835 CA10582237 |
328 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA356891551 RCV000694062 rs1162814935 |
329 | L>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA96852205 rs991683337 RCV000530074 |
330 | H>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000287493 CA10621175 rs878854837 RCV000381886 |
332 | V>A | Idiopathic hypereosinophilic syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000227020 rs878854837 CA10582239 |
332 | V>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs77524207 CA161453 RCV000349322 RCV000034712 RCV000121800 RCV000294449 |
340 | R>Q | Idiopathic hypereosinophilic syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs376626935 RCV000473903 CA16611555 |
340 | R>W | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000121799 RCV000694495 rs139103850 CA161450 |
353 | N>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000689270 CA356891704 rs139103850 |
353 | N>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA356891730 rs1553903357 RCV000542165 |
357 | I>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA215852 rs147982027 RCV000229189 RCV000034713 |
367 | V>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1060501521 RCV000459793 CA16611557 |
368 | E>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356891816 RCV000539089 rs1553903361 |
370 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000121801 rs61735622 RCV000230967 RCV000336391 CA161456 |
374 | R>S | Idiopathic hypereosinophilic syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2922480 RCV000476232 rs41279521 |
376 | R>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA356891876 rs1553903724 RCV000556225 |
377 | S>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000206492 CA350518 rs200113704 |
378 | K>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000702678 rs200113704 CA2922481 |
378 | K>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000203175 rs199827643 CA249386 RCV000515443 RCV000206551 |
379 | L>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000694110 rs1368411882 CA356891920 |
383 | R>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553903746 CA356891976 RCV000551922 |
391 | H>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781579645 RCV000633745 CA2922483 |
391 | H>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA356892000 RCV000633769 rs1354659434 |
395 | V>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000707536 rs1467315284 CA356892011 |
397 | Q>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000692622 rs1429740752 CA356892033 |
399 | E>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000688693 CA356892038 rs1560475881 |
400 | D>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000466976 CA279987 COSM1581435 RCV000032817 rs397514549 |
401 | A>D | haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor Isolated cleft palate [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000633822 rs1553903757 CA356892072 |
405 | Y>C | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553903767 RCV000558048 CA356892094 |
408 | E>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000706713 rs889107760 CA356892109 |
411 | T>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000463519 rs1060501514 CA16611468 |
415 | S>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2922503 rs749421720 RCV000694677 |
419 | D>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs770847351 RCV000546581 CA2922507 |
422 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776298880 CA356892195 RCV000694927 |
423 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356892215 RCV000633841 rs1553904015 |
425 | H>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2922510 rs769631321 RCV000463210 RCV000764537 |
425 | H>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs759374919 CA2922509 RCV000558277 |
425 | H>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs61735621 RCV000464440 CA2922511 |
427 | S>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10582242 rs878854820 RCV000230513 |
428 | T>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000228913 CA10582243 rs762651640 |
428 | T>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000233937 rs762651640 CA2922512 |
428 | T>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA215855 RCV000360480 rs150577828 RCV000204962 RCV000034714 |
429 | G>R | Idiopathic hypereosinophilic syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2922516 COSM1131109 RCV000534432 rs750809787 |
432 | T>M | prostate Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA161462 rs139920579 RCV000234610 RCV000121803 |
436 | T>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA356892282 rs1553904029 RCV000633775 |
437 | A>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000228500 rs143344944 CA2922519 |
440 | T>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA215858 RCV000034715 RCV000764538 rs139236922 |
442 | L>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000633820 rs1441980002 CA356892329 |
446 | E>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA2922525 RCV000462581 rs775373016 |
449 | I>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356892366 RCV000820737 rs1577722696 |
450 | C>* | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356892373 rs1178568199 RCV000633734 |
451 | K>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA356892377 rs1204540280 RCV000695443 |
452 | D>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000121802 CA161459 RCV001854669 rs587778603 |
453 | I>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000475784 rs587778603 CA16611477 |
453 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356892400 rs1553904049 RCV000633801 |
455 | K>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000633724 rs761185076 CA356892418 |
456 | C>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA356892467 rs375047532 RCV000689086 |
463 | T>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2922556 rs375047532 RCV000229738 |
463 | T>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA96858733 rs372990693 RCV000692991 |
464 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000231459 rs878854821 CA10582244 |
467 | N>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16611459 RCV000465785 rs1060501506 |
469 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1560478761 RCV000685055 CA891842613 |
469 | V>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16611460 RCV000474852 rs758497476 |
471 | N>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2922558 RCV000535773 rs758497476 |
471 | N>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2922559 rs201223501 RCV000548403 |
472 | I>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000633742 rs1553904177 CA356892520 |
472 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA161390 rs587778594 RCV000121779 RCV000705571 |
473 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs751618661 RCV000633720 CA2922560 COSM1310130 |
474 | T>M | urinary_tract Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs780125769 CA2922562 RCV000475997 |
475 | E>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2922563 rs200309940 RCV000471079 |
475 | E>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA356892549 rs1553904188 RCV000633828 |
477 | H>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000034716 rs35597368 RCV000381487 VAR_034378 RCV000326887 RCV000121780 CA161393 |
478 | S>P | Idiopathic hypereosinophilic syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000229276 CA2922567 rs777341485 |
479 | R>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746522772 RCV000541402 CA2922568 |
480 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000233265 rs149031291 CA2922572 RCV000658998 |
484 | V>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2922574 rs763237825 RCV000476217 |
487 | R>C | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764214258 CA2922575 RCV000633729 |
487 | R>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16611479 RCV000463566 rs763237825 |
487 | R>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs761961392 RCV000633753 CA2922577 |
489 | T>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs563016888 RCV000331094 CA2922579 COSM420571 RCV000275997 |
491 | A>T | Idiopathic hypereosinophilic syndrome urinary_tract Gastrointestinal stromal tumor [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2922580 rs754824764 RCV000466474 |
492 | K>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000461815 CA2922583 rs758137485 |
498 | A>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001064271 rs369219442 |
500 | R>* | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000702515 COSM1430070 CA356892689 rs1308521786 |
500 | R>Q | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs1560479104 CA356892705 RCV000699709 |
503 | A>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1056059 rs142980928 CA2922587 RCV000693757 |
506 | L>F | endometrium Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000701493 rs1560479141 CA891842614 |
506 | L>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356892729 RCV000530691 rs746397815 |
506 | L>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs770129304 RCV000473836 CA2922589 |
508 | G>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356892762 RCV000538699 rs1553904229 |
511 | N>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs765271720 RCV000633727 CA2922617 COSM1310131 |
522 | R>H | urinary_tract Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000543488 CA2922618 rs147733970 |
523 | S>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1553904349 RCV000633748 |
526 | T>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA96859451 RCV000700389 rs904415979 |
526 | T>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1294452177 RCV000633780 CA356892863 |
527 | V>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000694244 rs1560480010 |
527 | V>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763901708 RCV001012262 RCV000633725 CA2922620 |
528 | A>T | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000467949 rs779575357 CA2922626 |
535 | L>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553904366 CA356892930 RCV000531966 |
539 | I>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs866516451 RCV000633722 CA96859512 |
539 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16611465 rs1060501522 RCV000469268 |
542 | L>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000544589 CA2922628 rs755486487 |
543 | I>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000121781 rs181854060 RCV000232812 CA161396 RCV000032818 |
544 | V>A | Gastrointestinal stromal tumor Isolated cleft palate [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA658796434 RCV000633835 rs1553904374 |
544 | V>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000475283 rs1060501500 CA16611559 |
548 | I>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000557487 rs1060501500 CA356892977 |
548 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001064265 rs747156883 COSM48889 CA2922632 |
549 | W>* | lung Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA2922634 RCV000537928 rs770950644 |
551 | Q>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000466521 RCV000764539 rs770950644 CA2922633 |
551 | Q>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060501502 CA16611466 RCV000456218 |
553 | P>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000014511 COSM133645 CA123221 rs121908589 VAR_083158 |
555 | Y>C | Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal GISTPS; increased platelet-derived growth factor alpha-receptor activity; constitutively activated kinase soft_tissue [ClinVar, UniProt, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000231170 rs878854823 CA10582245 |
555 | Y>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553904439 RCV000633723 CA356893047 |
556 | E>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs765680542 CA96859675 RCV000697347 |
558 | R>C | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1430076 RCV000234041 rs761924292 CA2922659 |
558 | R>H | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587776795 RCV000014507 |
560 | R>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1430077 RCV000437945 rs121908586 CA16602796 |
561 | V>A | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM739 RCV001357690 rs121908586 VAR_066462 CA123203 RCV000787298 RCV000014504 |
561 | V>D | Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal a GIST sample; constitutively activated kinase soft_tissue small_intestine Gastrointestinal stromal tumor [ClinVar, UniProt, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs587776794 RCV000014506 |
561 | V>ER | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000458061 rs1060501510 CA16611482 |
563 | E>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1178831870 CA356893100 COSM327112 RCV000687737 |
565 | I>V | haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs1560480581 RCV000688905 CA356893111 |
566 | S>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000014508 rs606231209 |
566 | S>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000459085 rs587778595 |
567 | P>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA96859744 RCV000685422 rs935967127 |
575 | V>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA2922666 rs778015444 RCV000707621 |
577 | P>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16602636 rs1057519811 RCV000423704 |
577 | P>S | Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000475013 CA16611645 rs1060501505 |
585 | R>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1723641220 RCV001148846 RCV001146048 |
595 | L>P | Idiopathic hypereosinophilic syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700049 CA96861219 rs999173790 |
597 | R>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000528246 rs1349318035 CA356893331 |
597 | R>W | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs757608100 RCV000689515 CA2922685 |
598 | V>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553904813 RCV000540823 CA356893368 |
603 | A>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1560482703 CA356893401 RCV000696864 |
608 | V>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2922687 rs138740193 RCV000457211 |
608 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1406857066 CA356893422 RCV000528725 |
611 | T>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs780111998 CA2922689 RCV000457492 |
616 | S>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000693966 rs377318745 CA356893458 |
617 | R>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs377318745 RCV000553651 CA96861304 |
617 | R>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA10582247 rs878854825 RCV000228510 |
617 | R>W | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA356893470 rs1553904833 RCV000530086 |
619 | Q>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000633761 CA96861308 rs774507815 |
622 | M>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2922691 rs199902153 RCV000405809 RCV000231363 |
631 | P>S | Idiopathic hypereosinophilic syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2922709 RCV000555045 rs572964298 |
632 | T>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001201899 rs778818973 CA2922711 |
634 | R>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553904882 RCV001262590 RCV000560051 CA356893638 |
642 | M>I | Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001303007 rs1723828894 |
650 | H>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
rs969139366 RCV000701707 CA96861590 |
657 | I>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16602637 RCV000434301 rs1057519812 |
658 | V>A | Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057519700 CA16602384 VAR_066466 COSM22414 COSM22415 RCV000419062 |
659 | N>K | GIST sample; constitutively activated kinase central_nervous_system stomach soft_tissue small_intestine breast Gastrointestinal stromal tumor [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1057519700 RCV000429785 CA16602385 COSM22414 COSM22415 |
659 | N>K | central_nervous_system soft_tissue stomach small_intestine breast Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001150374 rs1723832515 RCV001150373 |
666 | K>N | Idiopathic hypereosinophilic syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553904985 CA356893827 RCV000633749 |
670 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA123215 COSM743 RCV000014509 rs121908587 |
674 | T>I | large_intestine haematopoietic_and_lymphoid_tissue Hypereosinophilic syndrome, idiopathic, resistant to imatinib [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs778551529 CA2922738 RCV000686158 |
675 | E>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs371065167 CA2922744 RCV000474034 |
692 | S>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA356894019 RCV000701960 COSM1618911 rs765377444 |
696 | H>Q | liver Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1560483777 CA356894014 RCV000694448 |
696 | H>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2922748 rs763091995 RCV001014506 |
705 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000549924 CA2922750 rs781356492 |
708 | F>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2922751 rs756055115 RCV000472227 |
711 | N>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553905039 CA356894120 RCV000526062 |
711 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000697609 CA356894139 rs1560483897 |
714 | D>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356894152 rs1553905049 RCV000633752 |
716 | S>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2922755 rs778408083 RCV000633747 |
716 | S>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000537781 rs1553905051 CA356894160 |
717 | T>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs367722824 CA2922757 RCV000461680 |
718 | R>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2922756 RCV000550425 rs375434317 |
718 | R>W | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553905278 CA356894201 RCV000556276 |
722 | I>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000633728 rs1553905281 COSM587614 CA356894228 |
726 | E>Q | lung Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000527659 rs749523527 CA2922784 |
732 | M>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1724004184 RCV001241654 |
736 | Q>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001198581 rs1724006429 |
741 | Q>* | Idiopathic hypereosinophilic syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs764957750 RCV000694507 CA2922791 |
743 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs61735626 RCV000121784 CA161405 RCV000229967 |
744 | P>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000633829 CA356894414 rs1553905300 |
752 | S>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2922795 rs536663502 RCV000468730 |
754 | Y>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs555347387 CA2922800 RCV000314872 COSM1056073 RCV000269138 |
756 | D>N | Idiopathic hypereosinophilic syndrome endometrium Gastrointestinal stromal tumor [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs148654387 RCV000121785 CA161408 RCV000226101 |
761 | L>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001056964 rs1724013061 |
762 | Y>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA96863173 VAR_042034 rs34392012 RCV000633714 |
764 | R>C | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV000121783 rs373061721 RCV000467651 CA161402 |
769 | K>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs373061721 RCV000553089 CA2922805 |
769 | K>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1724016830 RCV001207340 |
773 | M>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2922806 rs191808397 RCV000529522 |
773 | M>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA356894583 COSM1261810 RCV000633839 rs1553905944 |
776 | S>A | oesophagus Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1553905957 RCV000633812 CA356894606 |
779 | K>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000691623 rs757362953 CA2922841 |
781 | L>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2922840 RCV000697558 rs757362953 |
781 | L>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000693005 CA356894636 rs900860957 |
784 | D>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356894634 rs1553905962 RCV000546903 |
784 | D>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553905964 CA356894644 RCV000559472 |
785 | D>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2922845 rs555553917 RCV000535371 |
789 | G>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA96866306 rs999271001 RCV000818379 |
789 | G>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356894697 rs1560488952 RCV000688767 |
794 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356894758 rs1560488985 RCV000700093 |
802 | V>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000475433 rs571523023 CA2922849 |
804 | R>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000633754 CA356894828 rs1210337394 |
813 | N>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs776099721 RCV000560803 CA356894871 |
817 | R>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs370600501 RCV000464549 CA2922875 |
824 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA350758 RCV000206751 rs756209197 |
828 | Q>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000690144 rs779958669 CA2922879 |
831 | I>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000428031 rs121913269 |
841 | R>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000443097 CA16602638 rs1057519813 |
841 | R>K | Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16602522 rs121913264 RCV000437652 |
842 | D>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000014501 VAR_066471 CA123194 COSM736 RCV001355194 rs121908585 |
842 | D>V | large_intestine stomach soft_tissue a GIST sample; imatinib resistant, constitutively activated kinase haematopoietic_and_lymphoid_tissue small_intestine Gastrointestinal stromal tumor [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000439137 VAR_066472 COSM12396 CA16602703 rs121913265 |
842 | D>Y | a GIST sample; imatinib sensitive, constitutively activated kinase soft_tissue Gastrointestinal stromal tumor [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs121913262 RCV000421502 |
842 | D>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000014502 rs1553906053 RCV001357347 |
843 | I>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000439347 rs121913267 |
843 | I>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001860805 rs758210670 CA2922881 RCV001015862 |
844 | M>T | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000456448 rs777679907 CA2922882 |
845 | H>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM96893 RCV000427776 rs1057519814 CA16602639 |
845 | H>Y | Melanoma soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs587776793 RCV000014503 |
845 | H>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000442350 rs121908588 VAR_083160 COSM12399 CA123218 RCV000014510 |
846 | D>Y | Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal large_intestine soft_tissue GISTPS; unknown pathological significance Gastrointestinal stromal tumor [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA2922884 RCV000633756 rs377487797 |
847 | S>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA356895082 RCV000705889 rs1560489674 |
850 | V>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000433255 rs763576329 CA16602640 |
853 | G>D | Melanoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA356895111 rs1164252451 RCV000633794 |
854 | S>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1060501520 RCV000467678 CA16611651 |
859 | V>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553906267 CA356895235 COSM12680 RCV000633842 |
870 | N>S | large_intestine haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1724415984 RCV001323291 |
871 | L>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356895311 RCV001016190 rs1577744484 |
881 | Y>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs776811374 CA2922915 RCV000475723 |
883 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1724417532 RCV001223269 |
886 | W>* | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356895408 RCV000633818 rs1194156035 |
894 | T>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1435679141 CA356895427 RCV000633751 |
897 | P>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA356895448 rs1553906446 RCV000531676 |
900 | M>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2922926 RCV000464018 rs778327861 |
904 | T>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1560491697 CA356895500 RCV000688106 |
907 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000695984 CA356895505 rs1161645651 |
908 | K>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060501509 RCV000470216 CA16611565 |
909 | I>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356895531 RCV000707719 rs1317114941 |
911 | S>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000633744 rs1428997941 CA356895550 |
914 | R>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA356895549 rs1560491736 RCV000694935 |
914 | R>W | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1189646004 RCV000702390 CA356895589 |
919 | D>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1560491769 RCV000693186 CA356895604 |
922 | T>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501511 CA16611495 RCV000458566 |
923 | S>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs764838149 RCV000532019 CA2922960 |
928 | I>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000544490 CA356895716 rs1553906487 |
935 | S>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757720616 CA2922965 RCV000690774 |
957 | Q>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000689368 CA356895927 rs1290364180 |
964 | K>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000533208 rs1553906613 |
965 | I>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000034720 COSM1581436 RCV000230418 CA215865 rs200042995 |
966 | H>R | haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000121787 RCV000234402 rs140943817 CA161414 |
967 | L>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA356895969 RCV000534679 rs1553906621 |
970 | L>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356896009 rs1007954435 RCV000550847 |
976 | A>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs770822231 CA2922992 RCV000633788 |
978 | A>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA161417 rs587778597 RCV000228242 RCV000121788 |
979 | R>C | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000462430 RCV000121789 CA161420 rs587778598 |
979 | R>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1381392993 CA356896031 RCV000694341 |
980 | M>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000232212 rs368266633 CA2922995 COSM1056085 |
981 | R>H | endometrium Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553906630 RCV000633850 COSM191866 CA356896040 |
982 | V>M | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000558713 rs1553906632 CA356896047 |
983 | D>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1560492942 CA356896058 RCV000702667 |
984 | S>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000464523 CA16611567 COSM3825981 rs1060501516 |
985 | D>N | breast Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA2922999 RCV000465618 rs372859148 |
986 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2923002 RCV000633774 rs145019788 |
989 | I>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA161423 RCV000121790 rs587778599 RCV000473628 |
989 | I>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000764540 rs145019788 CA2923003 RCV000474365 |
989 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001043107 rs1724568531 |
992 | T>* | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
rs552254049 RCV001307675 |
994 | K>* | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000535021 CA96830173 rs552254049 |
994 | K>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
RCV000226613 CA2923009 rs758534651 |
997 | E>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000547513 rs781561737 |
997 | E>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772463000 CA2923011 RCV000228338 |
999 | K>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2923012 RCV000688500 rs568721384 |
1000 | L>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs200676118 RCV000470965 CA16611654 |
1002 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA215868 RCV000696315 RCV000034721 rs200676118 |
1002 | D>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000633726 CA96830190 rs981559406 COSM1540227 |
1003 | W>C | lung Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
CA356896232 rs1553906650 RCV000528364 |
1011 | R>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2923015 rs768291477 RCV000540806 |
1014 | A>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000633815 rs767151323 CA2923018 |
1020 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000633772 rs1553906665 CA356896312 COSM131791 |
1024 | D>N | skin Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA356896320 rs1553906669 RCV000553620 |
1025 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1418641601 RCV000542345 CA356896329 |
1026 | D>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1553906671 RCV000525361 CA356896325 |
1026 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2923024 rs765476521 RCV000230125 |
1028 | V>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000704829 CA96830268 rs765476521 |
1028 | V>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356896347 rs1553906681 RCV000633795 |
1029 | P>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000555093 rs1553906686 |
1032 | E>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685699 CA356896376 rs1560493249 |
1033 | D>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2923026 RCV000457138 rs201874958 |
1033 | D>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1444268252 RCV000691485 CA356896381 |
1034 | L>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000459312 rs1060501518 CA16611502 |
1038 | N>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000706159 COSM299399 CA2923045 rs764265933 |
1042 | S>L | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001018747 CA356896454 rs1577755464 |
1043 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356896451 RCV000633738 rs1553907178 |
1043 | Q>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501513 RCV000460328 CA16611573 |
1047 | E>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514550 RCV000032819 RCV000232988 CA279990 |
1052 | T>M | Isolated cleft palate Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA356896512 RCV000633830 rs1215904714 |
1052 | T>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1577755578 RCV001018894 CA356896539 |
1056 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000229701 rs774522904 CA2923052 |
1060 | I>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2923054 rs375050626 RCV000391349 RCV000287548 |
1064 | D>G | Idiopathic hypereosinophilic syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000695771 rs369389595 CA2923055 |
1065 | E>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2923056 RCV000470552 rs775944809 |
1066 | T>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2923057 rs372098007 RCV000471912 |
1069 | D>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs372098007 RCV000686845 CA356896625 |
1069 | D>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs149498489 CA356896633 RCV000633766 |
1070 | I>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs376544204 CA2923060 COSM12893 RCV000226955 VAR_042037 |
1071 | D>N | lung large_intestine endometrium a lung neuroendocrine carcinoma sample; somatic mutation Gastrointestinal stromal tumor [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1560496089 CA356896646 RCV000699914 |
1072 | M>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000543893 rs756442272 |
1073 | M>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2923062 RCV000702935 rs764405049 |
1073 | M>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000633785 rs767697835 CA2923065 COSM3825982 |
1075 | D>N | ovary breast Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356896673 RCV001019313 rs750465940 |
1076 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000311959 CA2923068 RCV000368950 rs148629782 |
1076 | I>M | Idiopathic hypereosinophilic syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs750465940 RCV000468793 CA2923066 |
1076 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001019325 rs1577755841 CA356896679 |
1077 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752633017 RCV000556241 CA356896677 |
1077 | G>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000695341 rs1560496172 CA356896694 |
1079 | D>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs756955630 CA356896713 RCV000633783 |
1082 | D>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs776018656 CA2922195 |
5 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs759019262 CA356888065 |
6 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA2922196 rs759019262 |
6 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1467619698 CA356888070 |
7 | A>S | No |
ClinGen gnomAD |
|
|
CA2922203 rs781404006 |
10 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1440200916 CA356888102 |
12 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356888106 rs1227672940 |
13 | C>Y | No |
ClinGen gnomAD |
|
|
rs1577701660 CA356888117 |
15 | L>F | No |
ClinGen Ensembl |
|
|
CA356888120 rs1286350038 |
15 | L>P | No |
ClinGen gnomAD |
|
|
CA356888167 rs1334714267 |
21 | I>T | No |
ClinGen TOPMed |
|
|
rs561082994 CA2922227 |
23 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356888207 rs529666430 |
27 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1377805967 CA356888212 |
28 | P>R | No |
ClinGen TOPMed |
|
|
CA2922230 rs746846673 |
29 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1437048036 CA356888222 |
30 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs773405650 CA96847175 |
38 | V>A | No |
ClinGen Ensembl |
|
|
CA2922235 rs769214355 |
40 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA356888293 rs1341010273 |
41 | L>Q | No |
ClinGen gnomAD |
|
|
CA2922236 rs774911799 |
44 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356888314 rs774911799 |
44 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96847217 rs777307941 |
46 | S>C | No |
ClinGen Ensembl |
|
|
rs1190592187 CA356888374 |
53 | S>I | No |
ClinGen gnomAD |
|
|
rs1190592187 CA356888372 |
53 | S>N | No |
ClinGen gnomAD |
|
|
rs1577705165 CA356888377 |
54 | E>K | No |
ClinGen Ensembl |
|
|
rs773412686 CA2922239 |
55 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1577705191 CA356888396 |
56 | S>R | No |
ClinGen Ensembl |
|
|
rs1186935022 CA356888410 |
58 | Q>R | No |
ClinGen gnomAD |
|
|
CA356888414 rs1577705213 COSM75894 |
59 | Y>N | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA356888464 rs1163869258 |
65 | E>V | No |
ClinGen gnomAD |
|
|
CA356888471 rs1577705273 |
66 | S>I | No |
ClinGen Ensembl |
|
|
rs143783500 CA2922242 |
66 | S>R | No |
ClinGen ESP ExAC |
|
|
CA96847288 rs945544868 |
68 | D>G | No |
ClinGen Ensembl |
|
|
CA2922245 rs757101121 |
69 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1577705348 CA356888503 |
71 | I>T | No |
ClinGen Ensembl |
|
|
CA356888541 rs1379511323 |
75 | E>G | No |
ClinGen gnomAD |
|
|
rs768193197 CA2922250 |
82 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA356888659 rs1354007102 |
85 | L>M | No |
ClinGen TOPMed |
|
|
CA356888693 rs1473497171 |
87 | V>A | No |
ClinGen gnomAD |
|
|
rs752669159 CA2922260 |
93 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1418656533 CA356888768 |
94 | H>Y | No |
ClinGen TOPMed |
|
|
CA356888782 rs1577705610 |
95 | T>S | No |
ClinGen Ensembl |
|
|
rs1313263168 CA356888804 |
97 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1451975443 CA356888802 |
97 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1265201159 CA356888831 |
99 | T>A | No |
ClinGen TOPMed |
|
|
CA356888848 rs1367611443 |
100 | C>* | No |
ClinGen gnomAD |
|
|
CA2922265 rs779726497 |
101 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356888882 rs1222128776 |
103 | N>D | No |
ClinGen gnomAD |
|
|
rs1222128776 CA356888880 |
103 | N>H | No |
ClinGen gnomAD |
|
|
rs1004486437 CA96847404 |
103 | N>S | No |
ClinGen TOPMed |
|
|
CA2922266 rs753461949 |
105 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1281779836 CA356888910 |
105 | T>P | No |
ClinGen TOPMed |
|
|
CA356888957 rs1577705794 |
109 | E>K | No |
ClinGen Ensembl |
|
|
CA356888977 rs1230872708 |
110 | N>S | No |
ClinGen TOPMed |
|
|
rs1255071376 CA356888990 |
111 | E>G | No |
ClinGen gnomAD |
|
|
rs1577705861 CA356889060 |
117 | I>V | No |
ClinGen Ensembl |
|
|
rs1577705874 CA356889093 |
119 | I>M | No |
ClinGen Ensembl |
|
|
CA2922279 rs762935664 |
125 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA356889601 rs1167372221 |
125 | D>V | No |
ClinGen TOPMed |
|
|
CA96848970 rs759705682 |
127 | A>V | No |
ClinGen Ensembl |
|
|
rs1577709102 CA356889706 |
135 | D>G | No |
ClinGen Ensembl |
|
|
CA356889717 rs1326143004 |
136 | Y>S | No |
ClinGen gnomAD |
|
|
rs1181941483 CA356889726 |
137 | L>I | No |
ClinGen TOPMed |
|
|
rs1577709150 CA356889740 |
138 | V>L | No |
ClinGen Ensembl |
|
|
CA356889749 rs1577709157 |
139 | I>V | No |
ClinGen Ensembl |
|
|
rs757790893 CA2922291 |
141 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA2922292 rs201614191 |
142 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1337241636 CA356889789 |
142 | D>G | No |
ClinGen gnomAD |
|
|
CA356889791 rs1337241636 |
142 | D>V | No |
ClinGen gnomAD |
|
|
rs770117588 CA356889812 |
144 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2922294 rs770117588 |
144 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376497743 CA2922293 |
144 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191201033 CA356889822 |
146 | A>P | No |
ClinGen gnomAD |
|
|
CA356889824 rs1249349361 |
146 | A>V | No |
ClinGen gnomAD |
|
|
rs553864636 CA96849064 |
147 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1449637193 CA356889856 |
151 | R>C | No |
ClinGen gnomAD |
|
|
rs1060501501 CA356889857 |
151 | R>L | No |
ClinGen Ensembl |
|
|
rs775558761 CA2922295 |
152 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs948286384 CA96849087 |
154 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1577709360 CA356889881 |
155 | P>R | No |
ClinGen Ensembl |
|
|
rs1577709414 CA356889910 |
160 | T>N | No |
ClinGen Ensembl |
|
|
rs916537173 CA96849104 |
162 | H>R | No |
ClinGen TOPMed |
|
|
CA96849118 rs768090499 |
164 | S>G | No |
ClinGen Ensembl |
|
|
CA356889938 rs1577709452 |
164 | S>I | No |
ClinGen Ensembl |
|
|
rs1295802121 CA356889953 |
166 | G>V | No |
ClinGen TOPMed |
|
|
CA356889957 rs587778602 |
167 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2922303 rs752270672 |
168 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1349637223 CA356889977 |
170 | A>V | No |
ClinGen TOPMed |
|
|
rs758027394 CA2922304 |
171 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284633844 CA356889984 |
172 | Y>H | No |
ClinGen gnomAD |
|
|
rs763718380 CA2922306 |
173 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356889998 rs1464980046 |
174 | S>G | No |
ClinGen gnomAD |
|
|
CA2922309 rs746299618 |
181 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA96849176 rs866099683 |
186 | P>A | No |
ClinGen Ensembl |
|
|
CA96849181 rs866099683 |
186 | P>S | No |
ClinGen Ensembl |
|
|
rs1577709665 CA356890086 |
187 | Y>F | No |
ClinGen Ensembl |
|
|
rs780359954 CA2922311 |
188 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA96849191 rs1036522662 |
190 | E>K | No |
ClinGen Ensembl |
|
|
CA356890112 rs1342445882 |
191 | A>G | No |
ClinGen TOPMed |
|
|
COSM131787 rs267600185 CA96849206 |
191 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA356890118 rs1273444748 |
192 | T>S | No |
ClinGen TOPMed |
|
|
CA2922315 rs748162423 |
194 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1323449085 CA356890129 |
194 | K>R | No |
ClinGen gnomAD |
|
|
rs562479351 CA2922317 |
198 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356890161 rs1304120162 |
199 | Q>E | No |
ClinGen TOPMed |
|
|
rs1436372771 CA356890210 |
206 | Y>C | No |
ClinGen Ensembl |
|
|
rs889394408 CA356890225 |
208 | L>F | No |
ClinGen gnomAD |
|
|
rs761446758 CA2922347 COSM48644 |
210 | A>V | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1170188252 CA356890654 |
211 | T>A | No |
ClinGen gnomAD |
|
|
CA356890685 rs1461389031 |
213 | E>A | No |
ClinGen gnomAD |
|
|
CA356890699 rs1369701227 |
214 | L>V | No |
ClinGen gnomAD |
|
|
CA2922349 rs749903216 |
215 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs761102425 CA2922350 |
215 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs766847405 CA356890726 |
216 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356890762 rs1577711303 |
218 | M>T | No |
ClinGen Ensembl |
|
|
CA356890788 rs1577711317 |
220 | A>T | No |
ClinGen Ensembl |
|
|
CA96850202 rs866661996 |
227 | S>P | No |
ClinGen Ensembl |
|
|
rs1250098734 CA356890872 |
229 | E>Q | No |
ClinGen gnomAD |
|
|
rs752886996 CA2922354 |
230 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA2922355 rs758580911 |
232 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA356890907 rs1553902931 RCV000522735 |
234 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA356890909 COSM2155422 rs1452760876 |
235 | C>R | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA356890926 rs1190791014 |
237 | V>A | No |
ClinGen gnomAD |
|
|
CA2922358 rs769686275 |
239 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2922357 rs747042094 |
239 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA356890945 rs749141162 |
240 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749141162 CA2922360 |
240 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324568225 CA356890956 |
242 | V>M | No |
ClinGen gnomAD |
|
|
CA96850324 rs910676195 |
250 | P>A | No |
ClinGen TOPMed |
|
|
CA356891021 rs771701353 |
251 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA2922365 rs772605262 |
252 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1214333123 CA356891034 |
253 | V>E | No |
ClinGen gnomAD |
|
|
rs1577714420 CA356891073 |
257 | G>D | No |
ClinGen Ensembl |
|
|
CA356891070 rs1577714414 |
257 | G>S | No |
ClinGen Ensembl |
|
|
rs1039985533 CA356891076 |
258 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA356891089 rs1412240615 |
260 | M>R | No |
ClinGen gnomAD |
|
|
CA2922386 rs373234192 |
260 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs763363386 CA2922390 |
265 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1280969522 CA356891122 |
265 | K>Q | No |
ClinGen gnomAD |
|
|
rs754973533 CA2922396 |
268 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1263572484 CA356891152 |
270 | K>E | No |
ClinGen TOPMed |
|
|
rs545359247 CA356891154 |
270 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758194640 CA2922399 |
274 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA356891186 rs1433722204 |
275 | L>S | No |
ClinGen gnomAD |
|
|
CA356891263 rs1305108075 |
287 | D>G | No |
ClinGen TOPMed |
|
|
CA2922410 rs373948582 |
293 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760828332 CA2922412 |
296 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356891323 rs765319021 |
297 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs200033396 CA215871 RCV000034724 |
299 | V>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2922414 rs752649434 |
299 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2922417 rs751257703 |
301 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751257703 CA2922416 |
301 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139685174 CA96852002 |
306 | T>I | No |
ClinGen Ensembl |
|
|
CA2922418 rs371882159 |
307 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356891404 rs1395338355 |
309 | V>A | No |
ClinGen gnomAD |
|
|
rs1293806775 CA356891446 |
313 | G>A | No |
ClinGen gnomAD |
|
|
CA96852165 rs149222227 |
315 | I>M | No |
ClinGen Ensembl |
|
|
CA2922440 rs779626645 |
320 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA96852171 rs998184420 |
322 | S>T | No |
ClinGen Ensembl |
|
|
CA356891537 rs748576202 |
327 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2922444 rs748576202 |
327 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1344465793 CA356891573 |
333 | K>E | No |
ClinGen Ensembl |
|
|
rs1577715382 CA356891576 |
333 | K>R | No |
ClinGen Ensembl |
|
|
rs747257877 COSM1540241 CA2922446 |
339 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs764140125 CA2922449 |
344 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1230076983 CA356891656 |
346 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA96852305 rs78608730 |
346 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA2922450 rs78608730 |
346 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA2922452 rs750157633 |
363 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA356891786 rs1303150389 |
365 | T>I | No |
ClinGen TOPMed |
|
|
CA356891801 rs1357067277 |
368 | E>Q | No |
ClinGen TOPMed |
|
|
rs1419727467 CA356891822 |
371 | Q>E | No |
ClinGen gnomAD |
|
|
CA356891871 rs1577719401 |
376 | R>G | No |
ClinGen Ensembl |
|
|
CA356891901 rs1577719475 |
380 | K>N | No |
ClinGen Ensembl |
|
|
CA356891912 rs1369890012 |
382 | I>T | No |
ClinGen TOPMed |
|
|
rs1324781921 CA356891917 |
383 | R>C | No |
ClinGen gnomAD |
|
|
CA356891926 rs1577719527 |
384 | A>V | No |
ClinGen Ensembl |
|
|
CA96854504 rs930852806 |
387 | E>G | No |
ClinGen gnomAD |
|
|
CA2922482 rs757529905 |
387 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA356891949 rs1227372630 |
388 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs746100370 CA2922484 |
392 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1252610121 CA356892002 |
395 | V>A | No |
ClinGen gnomAD |
|
|
CA356892006 rs1327567130 |
396 | A>S | No |
ClinGen TOPMed |
|
|
CA356892008 rs1403199114 |
396 | A>V | No |
ClinGen gnomAD |
|
|
CA96854513 rs397514549 |
401 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356892063 rs1577719688 |
404 | S>N | No |
ClinGen Ensembl |
|
|
rs772053864 CA2922487 |
406 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM2155651 CA356892090 rs1189746481 |
408 | E>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs889107760 CA96854514 |
411 | T>A | No |
ClinGen Ensembl |
|
|
CA356892124 rs1420000204 |
413 | V>F | No |
ClinGen gnomAD |
|
|
rs1285204456 CA356892190 |
422 | D>G | No |
ClinGen gnomAD |
|
|
CA2922508 rs776298880 |
423 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356892213 rs769631321 |
425 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_042033 rs55865821 CA96855730 |
426 | G>D | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs202072966 CA96855742 |
430 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1197237938 CA356892234 COSM3409360 |
430 | G>R | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2922515 rs202072966 |
430 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1377684828 CA356892251 |
433 | V>M | No |
ClinGen gnomAD |
|
|
rs754091886 CA2922518 |
438 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1038766927 CA356892297 |
440 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1038766927 CA96855783 |
440 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA96855815 rs1031763557 |
441 | P>L | No |
ClinGen gnomAD |
|
|
rs757211711 CA2922522 |
442 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2922523 rs745702167 |
444 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745702167 COSM3946436 CA356892316 |
444 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM1540239 CA2922524 rs769740571 |
448 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs748958360 CA2922526 |
451 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA356892371 rs1178568199 |
451 | K>T | No |
ClinGen TOPMed |
|
|
CA356892386 rs1577722738 |
453 | I>T | No |
ClinGen Ensembl |
|
|
CA96855836 rs560971320 |
454 | K>R | No |
ClinGen Ensembl |
|
|
rs761185076 CA2922552 |
456 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1294435524 CA356892422 |
457 | N>Y | No |
ClinGen gnomAD |
|
|
rs777051666 CA2922554 |
458 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777051666 CA356892434 |
458 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947086492 CA96858720 |
459 | E>D | No |
ClinGen Ensembl |
|
|
rs267600186 COSM131788 CA96858705 |
459 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA356892448 rs1213594792 |
460 | T>I | No |
ClinGen TOPMed |
|
|
rs759885036 CA2922555 |
463 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1207731107 CA356892501 |
468 | N>K | No |
ClinGen gnomAD |
|
|
CA356892500 rs1207731107 |
468 | N>K | No |
ClinGen gnomAD |
|
|
rs1577724130 CA356892499 COSM2155032 |
468 | N>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM1261813 CA356892515 rs1199380187 |
471 | N>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA356892543 rs1329845160 |
476 | I>F | No |
ClinGen TOPMed |
|
|
rs1329845160 CA356892544 |
476 | I>L | No |
ClinGen TOPMed |
|
|
rs771567933 CA2922566 |
479 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA2922569 COSM48646 rs144723510 |
480 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1423737250 CA356892580 |
482 | S>G | No |
ClinGen gnomAD |
|
|
CA356892599 rs1354231704 |
485 | E>K | No |
ClinGen gnomAD |
|
|
rs775656600 CA2922573 |
486 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA96858845 rs868384918 |
495 | E>K | No |
ClinGen Ensembl |
|
|
rs778784351 CA356892665 |
496 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778784351 CA2922581 |
496 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577724495 CA356892675 |
497 | I>T | No |
ClinGen Ensembl |
|
|
rs1577724518 CA356892681 |
498 | A>V | No |
ClinGen Ensembl |
|
|
COSM163384 rs746574289 CA2922585 |
499 | V>M | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1352983245 CA356892715 |
504 | K>R | No |
ClinGen TOPMed |
|
|
CA2922588 rs746397815 |
506 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2922590 rs775985327 |
510 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs866988382 CA96858896 |
512 | R>* | No |
ClinGen Ensembl |
|
|
rs1174017872 CA356892764 |
512 | R>Q | No |
ClinGen TOPMed |
|
|
rs763214177 CA2922591 |
516 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA356892792 rs1174270318 |
517 | V>M | No |
ClinGen TOPMed |
|
|
rs372546959 CA2922592 |
518 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356892798 rs372546959 |
518 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760659222 CA2922616 |
520 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs974033003 CA96859446 |
522 | R>C | No |
ClinGen TOPMed |
|
|
CA2922621 rs751285566 |
529 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2922623 rs767138955 |
534 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1577726164 CA356892913 |
536 | V>G | No |
ClinGen Ensembl |
|
|
CA356892908 rs1265135270 |
536 | V>M | No |
ClinGen gnomAD |
|
|
CA96859547 rs181854060 |
544 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1233146093 CA356892967 |
546 | V>L | No |
ClinGen TOPMed |
|
|
CA356892975 rs1577726261 |
547 | V>A | No |
ClinGen Ensembl |
|
|
CA2922630 rs139219072 |
547 | V>F | No |
ClinGen ESP ExAC TOPMed |
|
|
rs992063980 CA96859662 |
553 | P>S | No |
ClinGen TOPMed |
|
|
rs761698258 CA2922657 |
554 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs761698258 CA2922658 |
554 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA356893091 rs753347712 |
563 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201503614 COSM191854 CA215861 RCV000034717 |
567 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201503614 CA96859720 |
567 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356893138 rs1560480657 |
570 | H>Q | No |
ClinGen Ensembl |
|
|
CA96859738 rs924618799 |
574 | Y>F | No |
ClinGen TOPMed |
|
|
rs1215710338 CA356893178 |
576 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA96859756 rs143003840 COSM48647 |
580 | L>M | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA356893214 rs1577726967 |
581 | P>L | No |
ClinGen Ensembl |
|
|
CA356893211 rs1435627268 COSM29352 |
581 | P>S | soft_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs745983139 CA2922670 |
583 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1444218873 CA356893291 |
592 | G>E | No |
ClinGen gnomAD |
|
|
rs1406857066 CA356893420 |
611 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1290211365 CA356893423 |
612 | A>T | No |
ClinGen gnomAD |
|
|
CA356893441 rs1452541160 |
614 | G>A | No |
ClinGen gnomAD |
|
|
CA356893437 rs1320506684 |
614 | G>R | No |
ClinGen TOPMed |
|
|
CA356893443 rs1382903773 |
615 | L>I | No |
ClinGen TOPMed |
|
|
CA356893457 rs878854825 |
617 | R>G | No |
ClinGen gnomAD |
|
|
rs749366763 CA2922690 |
620 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1328605799 CA356893500 |
623 | K>N | No |
ClinGen gnomAD |
|
|
rs866641123 CA96861311 |
625 | A>V | No |
ClinGen Ensembl |
|
|
CA356893622 rs1397203869 |
640 | A>S | No |
ClinGen gnomAD |
|
|
rs746991341 CA2922712 |
649 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs377159519 CA2922714 |
654 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2922715 rs745658205 |
654 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356893721 rs1279735973 |
655 | L>V | No |
ClinGen TOPMed |
|
|
rs779818520 CA2922717 |
660 | L>F | No |
ClinGen ExAC |
|
|
rs1577730986 CA356893780 |
664 | C>Y | No |
ClinGen Ensembl |
|
|
rs768124156 CA2922737 |
669 | P>S | No |
ClinGen ExAC |
|
|
rs747598419 CA2922739 |
676 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2922740 rs772617321 |
679 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356893892 rs1312160226 |
679 | Y>H | No |
ClinGen TOPMed |
|
|
rs761133809 CA2922742 |
683 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA356893930 rs1377060380 |
684 | N>K | No |
ClinGen gnomAD |
|
|
rs1577731982 CA356893949 |
687 | H>L | No |
ClinGen Ensembl |
|
|
CA356893964 rs1284453963 |
689 | N>Y | No |
ClinGen gnomAD |
|
|
CA356893974 rs1344375373 |
690 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
rs771199305 CA96861907 |
691 | D>Y | No |
ClinGen Ensembl |
|
|
rs1377466927 CA356893996 |
693 | F>Y | No |
ClinGen TOPMed |
|
|
rs1400502000 CA356894007 |
695 | S>N | No |
ClinGen gnomAD |
|
|
CA356894057 rs1262195275 |
702 | K>E | No |
ClinGen gnomAD |
|
|
rs1388944809 CA356894060 |
702 | K>R | No |
ClinGen gnomAD |
|
|
rs752884270 CA2922747 |
704 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1577732126 CA356894082 |
705 | L>R | No |
ClinGen Ensembl |
|
|
rs764225560 CA2922749 |
706 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1221698264 CA356894083 |
706 | D>N | No |
ClinGen gnomAD |
|
|
rs1318827602 CA356894091 |
707 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2922752 rs779902846 |
712 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96861950 rs779902846 |
712 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356894129 rs1191626640 |
713 | A>T | No |
ClinGen gnomAD |
|
|
CA356894150 rs1553905049 |
716 | S>G | No |
ClinGen Ensembl |
|
|
CA2922754 rs754717420 |
716 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1352839721 CA356894188 |
720 | Y>S | No |
ClinGen gnomAD |
|
|
CA356894256 rs1458825658 |
729 | G>D | No |
ClinGen gnomAD |
|
|
CA356894255 rs1458825658 |
729 | G>V | No |
ClinGen gnomAD |
|
|
CA356894263 rs1577734762 |
730 | D>E | No |
ClinGen Ensembl |
|
|
rs768993267 CA2922785 |
732 | M>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1056071 CA2922786 rs774628734 |
734 | M>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA356894320 rs1370672831 |
738 | D>Y | No |
ClinGen TOPMed |
|
|
CA2922788 rs766379425 |
739 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1175465507 CA356894329 |
739 | T>I | No |
ClinGen gnomAD |
|
|
CA2922790 rs141704268 |
741 | Q>R | No |
ClinGen ESP ExAC |
|
|
rs763727620 CA2922793 |
745 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA356894366 rs1368223217 |
745 | M>T | No |
ClinGen gnomAD |
|
|
rs1260734299 CA356894390 |
749 | K>Q | No |
ClinGen gnomAD |
|
|
rs751123873 CA2922794 |
750 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1560485346 CA356894406 |
751 | V>F | No |
ClinGen Ensembl |
|
|
CA2922797 rs139465754 |
755 | S>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2922796 rs780701113 |
755 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2922801 rs769048345 |
757 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA356894463 rs1198732249 |
759 | R>S | No |
ClinGen gnomAD |
|
|
CA2922802 rs779246705 |
760 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748362104 CA2922803 |
761 | L>F | No |
ClinGen ExAC |
|
|
CA356894477 rs1171641135 |
762 | Y>C | No |
ClinGen gnomAD |
|
|
CA356894487 rs1396132478 |
763 | D>E | No |
ClinGen gnomAD |
|
|
RCV000034718 rs141047712 CA215862 |
764 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA356894493 rs1325295795 |
765 | P>T | No |
ClinGen gnomAD |
|
|
CA2922804 rs61735625 |
768 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96863178 rs778762046 |
768 | Y>H | No |
ClinGen Ensembl |
|
|
CA356894524 rs1248440566 |
770 | K>E | No |
ClinGen TOPMed |
|
|
CA356894542 rs1577735147 |
772 | S>Y | No |
ClinGen Ensembl |
|
|
CA356894591 rs1427951828 |
777 | E>G | No |
ClinGen gnomAD |
|
|
CA356894598 rs1479198937 |
778 | V>A | No |
ClinGen gnomAD |
|
|
CA356894596 rs200808048 |
778 | V>F | No |
ClinGen gnomAD |
|
|
rs200808048 CA96866261 |
778 | V>I | No |
ClinGen gnomAD |
|
|
rs1577741455 CA356894621 |
782 | L>V | No |
ClinGen Ensembl |
|
|
CA96866276 rs900860957 |
784 | D>A | No |
ClinGen Ensembl |
|
|
CA356894647 rs1351841980 |
786 | N>D | No |
ClinGen TOPMed |
|
|
rs749224305 CA356894654 |
786 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2922844 rs536062496 |
788 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2922846 rs771661933 |
790 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356894701 rs1195815525 |
794 | D>G | No |
ClinGen TOPMed |
|
|
CA356894736 rs1221831022 |
799 | T>A | No |
ClinGen gnomAD |
|
|
rs772948645 CA2922847 |
799 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242960071 CA356894768 |
804 | R>* | No |
ClinGen gnomAD |
|
|
CA96866321 rs867690523 |
806 | M>I | No |
ClinGen TOPMed |
|
|
CA2922850 rs776215616 |
807 | E>K | No |
ClinGen ExAC |
|
|
CA2922872 rs776099721 |
817 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs79948560 CA96866728 |
817 | R>H | No |
ClinGen Ensembl |
|
|
rs763325080 COSM447945 CA2922873 |
822 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1560489433 CA356894928 |
827 | A>T | No |
ClinGen Ensembl |
|
|
CA2922878 rs750553538 |
827 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA356894950 rs1577742285 |
830 | K>R | No |
ClinGen Ensembl |
|
|
COSM1540234 rs1315803700 CA356894961 |
832 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1035200422 CA96866798 |
844 | M>I | No |
ClinGen Ensembl |
|
|
CA356895086 rs1409442871 |
850 | V>A | No |
ClinGen gnomAD |
|
|
COSM1056081 CA2922887 rs745464928 |
851 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs763576329 CA2922890 |
853 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA356895128 rs1222441176 |
855 | T>N | No |
ClinGen gnomAD |
|
|
rs1280900050 CA356895149 |
858 | P>L | No |
ClinGen gnomAD |
|
|
rs762269030 CA2922910 |
860 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA356895177 rs1156961134 |
862 | M>I | No |
ClinGen TOPMed |
|
|
CA356895182 rs1262796345 |
863 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2922916 rs759510574 |
891 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA356895401 rs1577745913 |
893 | G>S | No |
ClinGen Ensembl |
|
|
COSM1430091 rs1185214354 CA356895431 |
898 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA356895457 rs1577745988 |
901 | V>L | No |
ClinGen Ensembl |
|
|
CA356895476 rs1577745995 |
904 | T>A | No |
ClinGen Ensembl |
|
|
rs1161645651 CA356895504 |
908 | K>Q | No |
ClinGen gnomAD |
|
|
CA356895522 rs1400850021 |
910 | K>R | No |
ClinGen gnomAD |
|
|
rs1317114941 CA356895529 |
911 | S>N | No |
ClinGen gnomAD |
|
|
CA356895547 rs1324332329 |
913 | Y>* | No |
ClinGen gnomAD |
|
|
rs1428997941 CA356895552 |
914 | R>L | No |
ClinGen gnomAD |
|
|
CA356895565 rs1403858596 |
916 | A>D | No |
ClinGen TOPMed |
|
|
CA356895566 rs1403858596 |
916 | A>G | No |
ClinGen TOPMed |
|
|
rs1245859165 CA356895586 |
919 | D>G | No |
ClinGen gnomAD |
|
|
CA96868827 rs977162554 |
922 | T>S | No |
ClinGen TOPMed |
|
|
CA2922959 rs759251401 |
927 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267600187 CA96868991 |
927 | E>K | No |
ClinGen Ensembl |
|
|
CA356895708 rs1577746460 |
934 | N>K | No |
ClinGen Ensembl |
|
|
rs111766115 CA96829342 |
935 | S>G | No |
ClinGen Ensembl |
|
|
CA96829344 rs267600188 COSM131790 |
937 | P>L | endometrium skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA356895731 rs1328843460 |
938 | E>Q | No |
ClinGen gnomAD |
|
|
CA356895748 rs1344020042 |
940 | R>K | No |
ClinGen TOPMed |
|
|
CA356895799 rs1284091709 |
947 | S>N | No |
ClinGen gnomAD |
|
|
rs1226557820 CA356895811 |
949 | I>V | No |
ClinGen TOPMed |
|
|
COSM1580094 CA2922964 rs752010861 |
956 | G>E | central_nervous_system haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1323119166 CA356895857 |
956 | G>R | No |
ClinGen gnomAD |
|
|
CA2922967 rs752373446 |
957 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749340499 CA96830068 |
962 | Y>H | No |
ClinGen Ensembl |
|
|
rs756581500 CA2922988 |
963 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356895938 rs1186467201 |
965 | I>S | No |
ClinGen Ensembl |
|
|
rs267600189 CA2922990 |
969 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA356895978 rs1388812728 |
971 | K>N | No |
ClinGen gnomAD |
|
|
CA356895974 rs1192943586 |
971 | K>T | No |
ClinGen gnomAD |
|
|
COSM1056083 CA356895980 rs1353514444 |
972 | S>G | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1467854764 CA356895993 |
973 | D>E | No |
ClinGen TOPMed |
|
|
CA356895991 rs1577748064 |
973 | D>G | No |
ClinGen Ensembl |
|
|
rs1007954435 CA96830097 |
976 | A>P | No |
ClinGen TOPMed |
|
|
CA96830099 rs375104103 |
977 | V>G | No |
ClinGen ESP TOPMed |
|
|
rs1577748113 CA356896022 |
978 | A>G | No |
ClinGen Ensembl |
|
|
rs769579172 CA2922993 |
980 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2922994 rs775205485 |
981 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM447946 rs368266633 CA2922996 |
981 | R>P | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1314369942 CA356896043 |
982 | V>A | No |
ClinGen gnomAD |
|
|
CA2923000 rs746381701 |
986 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96830135 rs1042833018 |
987 | A>T | No |
ClinGen Ensembl |
|
|
CA2923001 rs756632688 |
987 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356896080 rs1206479566 |
988 | Y>C | No |
ClinGen gnomAD |
|
|
CA356896077 rs1334321310 |
988 | Y>H | No |
ClinGen TOPMed |
|
|
CA356896094 rs1184746473 |
991 | V>I | No |
ClinGen gnomAD |
|
|
rs1437358654 CA356896103 |
992 | T>I | No |
ClinGen gnomAD |
|
|
CA356896100 rs1449825367 |
992 | T>P | No |
ClinGen TOPMed |
|
|
rs952413151 CA96830171 |
993 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2923008 rs748269104 |
996 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_042036 rs779173667 COSM21114 CA2923007 |
996 | E>K | a metastatic melanoma sample; somatic mutation skin [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
CA356896182 rs1376909345 |
1004 | E>K | No |
ClinGen gnomAD |
|
|
rs56028238 CA96830194 |
1005 | G>S | No |
ClinGen Ensembl |
|
|
rs1348842755 CA356896201 |
1007 | L>M | No |
ClinGen TOPMed |
|
|
rs1247175258 CA356896224 |
1010 | Q>* | No |
ClinGen TOPMed |
|
|
CA356896246 rs1307047645 |
1013 | S>I | No |
ClinGen gnomAD |
|
|
rs1307047645 CA356896245 |
1013 | S>N | No |
ClinGen gnomAD |
|
|
rs768291477 CA356896250 |
1014 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774086813 CA2923016 |
1018 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA2923017 rs761308715 |
1019 | I>N | No |
ClinGen ExAC gnomAD |
|
|
COSM3409364 rs772837015 CA2923019 |
1021 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2923022 rs754302100 |
1025 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA96830264 rs1002548765 |
1025 | I>T | No |
ClinGen Ensembl |
|
|
rs755391122 CA2923023 |
1027 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA356896337 rs755391122 |
1027 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1383509559 CA356896335 |
1027 | P>S | No |
ClinGen TOPMed |
|
|
CA356896344 rs1577748646 |
1029 | P>A | No |
ClinGen Ensembl |
|
|
rs752966371 CA2923025 |
1030 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356896355 rs1444450672 |
1031 | E>K | No |
ClinGen gnomAD |
|
|
CA356896373 rs1335871475 |
1033 | D>Y | No |
ClinGen gnomAD |
|
|
rs777886441 CA2923027 |
1035 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1560493275 CA356896389 |
1036 | K>E | No |
ClinGen Ensembl |
|
|
CA2923028 rs747082676 |
1037 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs756081317 CA2923029 |
1039 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1224462951 CA356896418 |
1040 | H>P | No |
ClinGen gnomAD |
|
|
rs961168177 CA96830275 |
1040 | H>Q | No |
ClinGen Ensembl |
|
|
rs1288330578 CA356896460 |
1044 | T>I | No |
ClinGen gnomAD |
|
|
rs1203681167 CA356896476 |
1047 | E>Q | No |
ClinGen gnomAD |
|
|
CA356896496 rs757362827 |
1050 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA2923047 rs757362827 |
1050 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA356896517 rs1215673916 |
1053 | G>R | No |
ClinGen TOPMed |
|
|
CA2923050 rs778837386 |
1054 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA356896530 rs1577755565 |
1055 | S>N | No |
ClinGen Ensembl |
|
|
CA356896542 rs1560495997 |
1057 | S>T | No |
ClinGen Ensembl |
|
|
COSM355205 rs747864564 CA2923051 |
1058 | T>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA356896548 rs1560496010 |
1058 | T>P | No |
ClinGen Ensembl |
|
|
rs774522904 CA2923053 |
1060 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96833161 rs138036141 |
1061 | K>N | No |
ClinGen ESP |
|
|
rs1577755645 CA356896570 |
1061 | K>R | No |
ClinGen Ensembl |
|
|
CA16622010 rs1346616192 |
1067 | I>T | No |
ClinGen gnomAD |
|
|
CA356896608 rs1321102144 |
1067 | I>V | No |
ClinGen gnomAD |
|
|
rs1577755710 CA356896620 |
1068 | E>D | No |
ClinGen Ensembl |
|
|
rs770192760 CA2923058 |
1070 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA356896649 rs1410475168 |
1072 | M>I | No |
ClinGen TOPMed |
|
|
rs751786947 CA2923063 |
1074 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752633017 CA2923069 |
1077 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1577755845 CA356896683 |
1078 | I>V | No |
ClinGen Ensembl |
|
|
rs758298020 CA2923070 |
1079 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2923071 rs777641634 |
1080 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746673077 CA2923072 |
1080 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1246505091 COSM3946438 CA356896714 |
1083 | L>M | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2923076 rs780817756 |
1084 | V>A | No |
ClinGen ExAC |
|
|
CA356896739 rs1205738556 |
1086 | D>E | No |
ClinGen TOPMed |
|
|
rs745334834 CA2923077 |
1088 | F>I | No |
ClinGen ExAC gnomAD |
3 associated diseases with P16234
[MIM: 606764]: Gastrointestinal stromal tumor (GIST)
Common mesenchymal neoplasms arising in the gastrointestinal tract, most often in the stomach. They are histologically, immunohistochemically, and genetically different from typical leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed of a fairly uniform population of spindle-shaped cells. Some tumors are dominated by epithelioid cells or contain a mixture of spindle and epithelioid morphologies. Primary GISTs in the gastrointestinal tract commonly metastasize in the omentum and mesenteries, often as multiple nodules. However, primary tumors may also occur outside of the gastrointestinal tract, in other intra-abdominal locations, especially in the omentum and mesentery. {ECO:0000269|PubMed:12522257, ECO:0000269|PubMed:15928335}. Note=The gene represented in this entry may be involved in disease pathogenesis. Mutations causing PDGFRA constitutive activation have been found in gastrointestinal stromal tumors lacking KIT mutations (PubMed:12522257). {ECO:0000269|PubMed:12522257}.
[MIM: 175510]: GIST-plus syndrome (GISTPS)
A disorder characterized by multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor, inflammatory fibroid polyps, and fibroid tumors. Additional features are coarse facies and skin, broad hands and feet, and premature tooth loss. GISTPS is an autosomal dominant disease with incomplete penetrance. Gastrointestinal stromal tumor and inflammatory fibroid polyps may also occur in isolation. {ECO:0000269|PubMed:14699510, ECO:0000269|PubMed:17087943, ECO:0000269|PubMed:25975287}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Common mesenchymal neoplasms arising in the gastrointestinal tract, most often in the stomach. They are histologically, immunohistochemically, and genetically different from typical leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed of a fairly uniform population of spindle-shaped cells. Some tumors are dominated by epithelioid cells or contain a mixture of spindle and epithelioid morphologies. Primary GISTs in the gastrointestinal tract commonly metastasize in the omentum and mesenteries, often as multiple nodules. However, primary tumors may also occur outside of the gastrointestinal tract, in other intra-abdominal locations, especially in the omentum and mesentery. {ECO:0000269|PubMed:12522257, ECO:0000269|PubMed:15928335}. Note=The gene represented in this entry may be involved in disease pathogenesis. Mutations causing PDGFRA constitutive activation have been found in gastrointestinal stromal tumors lacking KIT mutations (PubMed:12522257). {ECO:0000269|PubMed:12522257}.
- A disorder characterized by multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor, inflammatory fibroid polyps, and fibroid tumors. Additional features are coarse facies and skin, broad hands and feet, and premature tooth loss. GISTPS is an autosomal dominant disease with incomplete penetrance. Gastrointestinal stromal tumor and inflammatory fibroid polyps may also occur in isolation. {ECO:0000269|PubMed:14699510, ECO:0000269|PubMed:17087943, ECO:0000269|PubMed:25975287}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P16234
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Vinculin, conserved site | 178 - 198 | IPR000633 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.1 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24416 | TYROSINE-PROTEIN KINASE RECEPTOR |
| PANTHER Subfamily | PTHR24416:SF52 | PLATELET-DERIVED GROWTH FACTOR RECEPTOR ALPHA |
| PANTHER Protein Class | transmembrane signal receptor | |
| PANTHER Pathway Category |
PDGF signaling pathway PDGF receptor A Angiogenesis PDGFR |
|
15 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| intrinsic component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| microvillus | Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
12 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| growth factor binding | Binding to a growth factor, proteins or polypeptides that stimulate a cell or organism to grow or proliferate. |
| platelet-derived growth factor alpha-receptor activity | Combining with platelet-derived growth factor isoform PDGF-AA, PDGF-BB or PDGF-AB to initiate a change in cell activity. |
| platelet-derived growth factor binding | Binding to platelet-derived growth factor. |
| platelet-derived growth factor receptor binding | Binding to a platelet-derived growth factor receptor. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
| protein-containing complex binding | Binding to a macromolecular complex. |
| transmembrane receptor protein tyrosine kinase activity | Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. |
| vascular endothelial growth factor binding | Binding to a vascular endothelial growth factor. |
| vascular endothelial growth factor-activated receptor activity | Combining with a vascular endothelial growth factor (VEGF) receptor ligand and transmitting the signal across the plasma membrane to initiate a change in cell activity. |
46 GO annotations of biological process
| Name | Definition |
|---|---|
| adrenal gland development | The process whose specific outcome is the progression of the adrenal gland over time, from its formation to the mature structure. This gland can either be a discrete structure located bilaterally above each kidney, or a cluster of cells in the head kidney that perform the functions of the adrenal gland. In either case, this organ consists of two cells types, aminergic chromaffin cells and steroidogenic cortical cells. |
| cardiac myofibril assembly | The process whose specific outcome is the progression of the cardiac myofibril over time, from its formation to the mature structure. A cardiac myofibril is a myofibril specific to cardiac muscle cells. |
| cell activation | A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. |
| cell chemotaxis | The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). |
| cellular response to amino acid stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups. |
| cellular response to reactive oxygen species | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reactive oxygen species stimulus. Reactive oxygen species include singlet oxygen, superoxide, and oxygen free radicals. |
| embryonic cranial skeleton morphogenesis | The process in which the anatomical structures of the cranial skeleton are generated and organized during the embryonic phase. |
| embryonic digestive tract morphogenesis | The process in which the anatomical structures of the digestive tract are generated and organized during embryonic development. The digestive tract is the anatomical structure through which food passes and is processed. |
| embryonic skeletal system morphogenesis | The process in which the anatomical structures of the skeleton are generated and organized during the embryonic phase. |
| estrogen metabolic process | The chemical reactions and pathways involving estrogens, C18 steroid hormones that can stimulate the development of female sexual characteristics. Also found in plants. |
| extracellular matrix organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. |
| face morphogenesis | The process in which the anatomical structures of the face are generated and organized. The face is the ventral division of the head. |
| hematopoietic progenitor cell differentiation | The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| Leydig cell differentiation | The process in which a relatively unspecialized cell acquires specialized structural and/or functional features of a Leydig cell. A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis. |
| lung development | The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. |
| luteinization | The set of processes resulting in differentiation of theca and granulosa cells into luteal cells and in the formation of a corpus luteum after ovulation. |
| male genitalia development | The process whose specific outcome is the progression of the male genitalia over time, from its formation to the mature structure. |
| metanephric glomerular capillary formation | The process that gives rise to a metanephric glomerular capillary. This process pertains to the initial formation of a structure from unspecified parts. |
| negative regulation of platelet activation | Any process that decreases the rate or frequency of platelet activation. Platelet activation is a series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. |
| odontogenesis of dentin-containing tooth | The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. |
| peptidyl-tyrosine phosphorylation | The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. |
| phosphatidylinositol-mediated signaling | The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| platelet aggregation | The adhesion of one platelet to one or more other platelets via adhesion molecules. |
| platelet-derived growth factor receptor signaling pathway | The series of molecular signals initiated by a ligand binding to a platelet-derived growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| platelet-derived growth factor receptor-alpha signaling pathway | The series of molecular signals initiated a ligand binding to an alpha-type platelet-derived growth factor receptor (PDGFalpha) on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway | The series of molecular signals initiated by vascular endothelial growth factor (VEGF) binding to a platelet-derived growth factor receptor (PDGFR) on the surface of a cell, which activates or increases the frequency, rate or extent of cell proliferation. |
| positive regulation of cytosolic calcium ion concentration | Any process that increases the concentration of calcium ions in the cytosol. |
| positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| positive regulation of fibroblast proliferation | Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells. |
| positive regulation of kinase activity | Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
| positive regulation of phosphatidylinositol 3-kinase activity | Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity. |
| positive regulation of phosphatidylinositol 3-kinase signaling | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. |
| positive regulation of phospholipase C activity | Any process that increases the rate of phospholipase C activity. |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| regulation of actin cytoskeleton reorganization | Any process that modulates the frequency, rate or extent of actin cytoskeleton reorganization. |
| regulation of chemotaxis | Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism in response to a specific chemical concentration gradient. |
| regulation of mesenchymal stem cell differentiation | Any process that modulates the frequency, rate or extent of mesenchymal stem cell differentiation. |
| retina vasculature development in camera-type eye | The process whose specific outcome is the progression of the vasculature of the retina over time, from its formation to the mature structure. |
| roof of mouth development | The biological process whose specific outcome is the progression of the roof of the mouth from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The roof of the mouth is the partition that separates the nasal and oral cavities. |
| signal transduction involved in regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another. |
| transmembrane receptor protein tyrosine kinase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| white fat cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a white adipocyte, an animal connective tissue cell involved in energy storage. White adipocytes have cytoplasmic lipids arranged in a unique vacuole. |
| wound healing | The series of events that restore integrity to a damaged tissue, following an injury. |
99 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P43481 | KIT | Mast/stem cell growth factor receptor Kit | Bos taurus (Bovine) | SS |
| Q06805 | TIE1 | Tyrosine-protein kinase receptor Tie-1 | Bos taurus (Bovine) | PR |
| Q06807 | TEK | Angiopoietin-1 receptor | Bos taurus (Bovine) | SS |
| Q28889 | KIT | Mast/stem cell growth factor receptor Kit | Felis catus (Cat) (Felis silvestris catus) | SS |
| P13369 | CSF1R | Macrophage colony-stimulating factor 1 receptor | Felis catus (Cat) (Felis silvestris catus) | SS |
| P18460 | FGFR3 | Fibroblast growth factor receptor 3 | Gallus gallus (Chicken) | SS |
| P21804 | FGFR1 | Fibroblast growth factor receptor 1 | Gallus gallus (Chicken) | SS |
| Q08156 | KIT | Mast/stem cell growth factor receptor Kit | Gallus gallus (Chicken) | SS |
| Q8QHL3 | FLT1 | Vascular endothelial growth factor receptor 1 | Gallus gallus (Chicken) | SS |
| P18461 | FGFR2 | Fibroblast growth factor receptor 2 | Gallus gallus (Chicken) | SS |
| Q9PUF6 | PDGFRA | Platelet-derived growth factor receptor alpha | Gallus gallus (Chicken) | SS |
| Q07407 | htl | Fibroblast growth factor receptor homolog 1 | Drosophila melanogaster (Fruit fly) | PR |
| Q6J9G0 | STYK1 | Tyrosine-protein kinase STYK1 | Homo sapiens (Human) | PR |
| P07949 | RET | Proto-oncogene tyrosine-protein kinase receptor Ret | Homo sapiens (Human) | EV |
| O15146 | MUSK | Muscle, skeletal receptor tyrosine-protein kinase | Homo sapiens (Human) | EV |
| Q01974 | ROR2 | Tyrosine-protein kinase transmembrane receptor ROR2 | Homo sapiens (Human) | EV |
| Q01973 | ROR1 | Inactive tyrosine-protein kinase transmembrane receptor ROR1 | Homo sapiens (Human) | PR |
| Q16832 | DDR2 | Discoidin domain-containing receptor 2 | Homo sapiens (Human) | SS |
| Q08345 | DDR1 | Epithelial discoidin domain-containing receptor 1 | Homo sapiens (Human) | EV |
| Q16620 | NTRK2 | BDNF/NT-3 growth factors receptor | Homo sapiens (Human) | EV |
| P04629 | NTRK1 | High affinity nerve growth factor receptor | Homo sapiens (Human) | EV |
| Q16288 | NTRK3 | NT-3 growth factor receptor | Homo sapiens (Human) | SS |
| P35916 | FLT4 | Vascular endothelial growth factor receptor 3 | Homo sapiens (Human) | SS |
| P17948 | FLT1 | Vascular endothelial growth factor receptor 1 | Homo sapiens (Human) | SS |
| P35968 | KDR | Vascular endothelial growth factor receptor 2 | Homo sapiens (Human) | EV |
| P29317 | EPHA2 | Ephrin type-A receptor 2 | Homo sapiens (Human) | SS |
| P21709 | EPHA1 | Ephrin type-A receptor 1 | Homo sapiens (Human) | SS |
| P54760 | EPHB4 | Ephrin type-B receptor 4 | Homo sapiens (Human) | SS |
| P29376 | LTK | Leukocyte tyrosine kinase receptor | Homo sapiens (Human) | SS |
| Q9UM73 | ALK | ALK tyrosine kinase receptor | Homo sapiens (Human) | EV |
| P08922 | ROS1 | Proto-oncogene tyrosine-protein kinase ROS | Homo sapiens (Human) | SS |
| P14616 | INSRR | Insulin receptor-related protein | Homo sapiens (Human) | SS |
| P08069 | IGF1R | Insulin-like growth factor 1 receptor | Homo sapiens (Human) | EV |
| P06213 | INSR | Insulin receptor | Homo sapiens (Human) | EV |
| P11362 | FGFR1 | Fibroblast growth factor receptor 1 | Homo sapiens (Human) | EV |
| P21802 | FGFR2 | Fibroblast growth factor receptor 2 | Homo sapiens (Human) | EV |
| P22455 | FGFR4 | Fibroblast growth factor receptor 4 | Homo sapiens (Human) | SS |
| P22607 | FGFR3 | Fibroblast growth factor receptor 3 | Homo sapiens (Human) | EV |
| Q12866 | MERTK | Tyrosine-protein kinase Mer | Homo sapiens (Human) | EV |
| Q04912 | MST1R | Macrophage-stimulating protein receptor | Homo sapiens (Human) | EV |
| P30530 | AXL | Tyrosine-protein kinase receptor UFO | Homo sapiens (Human) | PR |
| Q06418 | TYRO3 | Tyrosine-protein kinase receptor TYRO3 | Homo sapiens (Human) | SS |
| P08581 | MET | Hepatocyte growth factor receptor | Homo sapiens (Human) | EV |
| P04626 | ERBB2 | Receptor tyrosine-protein kinase erbB-2 | Homo sapiens (Human) | SS |
| Q15303 | ERBB4 | Receptor tyrosine-protein kinase erbB-4 | Homo sapiens (Human) | SS |
| P21860 | ERBB3 | Receptor tyrosine-protein kinase erbB-3 | Homo sapiens (Human) | SS |
| P00533 | EGFR | Epidermal growth factor receptor | Homo sapiens (Human) | EV |
| P34925 | RYK | Tyrosine-protein kinase RYK | Homo sapiens (Human) | PR |
| Q02763 | TEK | Angiopoietin-1 receptor | Homo sapiens (Human) | SS |
| P35590 | TIE1 | Tyrosine-protein kinase receptor Tie-1 | Homo sapiens (Human) | PR |
| P10721 | KIT | Mast/stem cell growth factor receptor Kit | Homo sapiens (Human) | EV |
| P09619 | PDGFRB | Platelet-derived growth factor receptor beta | Homo sapiens (Human) | EV |
| P07333 | CSF1R | Macrophage colony-stimulating factor 1 receptor | Homo sapiens (Human) | SS |
| P36888 | FLT3 | Receptor-type tyrosine-protein kinase FLT3 | Homo sapiens (Human) | EV |
| Q03142 | Fgfr4 | Fibroblast growth factor receptor 4 | Mus musculus (Mouse) | PR |
| P05532 | Kit | Mast/stem cell growth factor receptor Kit | Mus musculus (Mouse) | PR |
| Q91V87 | Fgfrl1 | Fibroblast growth factor receptor-like 1 | Mus musculus (Mouse) | PR |
| P35917 | Flt4 | Vascular endothelial growth factor receptor 3 | Mus musculus (Mouse) | SS |
| P05622 | Pdgfrb | Platelet-derived growth factor receptor beta | Mus musculus (Mouse) | SS |
| P09581 | Csf1r | Macrophage colony-stimulating factor 1 receptor | Mus musculus (Mouse) | SS |
| P35969 | Flt1 | Vascular endothelial growth factor receptor 1 | Mus musculus (Mouse) | SS |
| P35546 | Ret | Proto-oncogene tyrosine-protein kinase receptor Ret | Mus musculus (Mouse) | SS |
| Q06806 | Tie1 | Tyrosine-protein kinase receptor Tie-1 | Mus musculus (Mouse) | SS |
| Q00342 | Flt3 | Receptor-type tyrosine-protein kinase FLT3 | Mus musculus (Mouse) | SS |
| Q6J9G1 | Styk1 | Tyrosine-protein kinase STYK1 | Mus musculus (Mouse) | PR |
| P16092 | Fgfr1 | Fibroblast growth factor receptor 1 | Mus musculus (Mouse) | SS |
| Q61851 | Fgfr3 | Fibroblast growth factor receptor 3 | Mus musculus (Mouse) | PR |
| Q02858 | Tek | Angiopoietin-1 receptor | Mus musculus (Mouse) | SS |
| P35918 | Kdr | Vascular endothelial growth factor receptor 2 | Mus musculus (Mouse) | PR |
| P21803 | Fgfr2 | Fibroblast growth factor receptor 2 | Mus musculus (Mouse) | SS |
| P26618 | Pdgfra | Platelet-derived growth factor receptor alpha | Mus musculus (Mouse) | SS |
| Q2HWD6 | KIT | Mast/stem cell growth factor receptor Kit | Sus scrofa (Pig) | SS |
| Q7TQM3 | Fgfrl1 | Fibroblast growth factor receptor-like 1 | Rattus norvegicus (Rat) | PR |
| P53767 | Flt1 | Vascular endothelial growth factor receptor 1 | Rattus norvegicus (Rat) | PR |
| Q91ZT1 | Flt4 | Vascular endothelial growth factor receptor 3 | Rattus norvegicus (Rat) | SS |
| Q04589 | Fgfr1 | Fibroblast growth factor receptor 1 | Rattus norvegicus (Rat) | SS |
| G3V9H8 | Ret | Proto-oncogene tyrosine-protein kinase receptor Ret | Rattus norvegicus (Rat) | SS |
| Q498D6 | Fgfr4 | Fibroblast growth factor receptor 4 | Rattus norvegicus (Rat) | PR |
| Q05030 | Pdgfrb | Platelet-derived growth factor receptor beta | Rattus norvegicus (Rat) | SS |
| O08775 | Kdr | Vascular endothelial growth factor receptor 2 | Rattus norvegicus (Rat) | SS |
| P20786 | Pdgfra | Platelet-derived growth factor receptor alpha | Rattus norvegicus (Rat) | SS |
| Q17833 | old-1 | Tyrosine-protein kinase receptor old-1 | Caenorhabditis elegans | PR |
| Q19238 | F09A5.2 | Putative tyrosine-protein kinase F09A5.2 | Caenorhabditis elegans | SS |
| Q10656 | egl-15 | Myoblast growth factor receptor egl-15 | Caenorhabditis elegans | PR |
| P34892 | kin-16 | Receptor-like tyrosine-protein kinase kin-16 | Caenorhabditis elegans | PR |
| G5ED65 | ver-1 | Protein ver-1 | Caenorhabditis elegans | PR |
| Q3E8W4 | ANX2 | Receptor-like protein kinase ANXUR2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SCZ4 | FER | Receptor-like protein kinase FERONIA | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FLW0 | At5g24010 | Probable receptor-like protein kinase At5g24010 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8AXB3 | kdrl | Vascular endothelial growth factor receptor kdr-like | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q5GIT4 | kdr | Vascular endothelial growth factor receptor 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| O73791 | tek | Angiopoietin-1 receptor | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q90Z00 | fgfr1a | Fibroblast growth factor receptor 1-A | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q8JG38 | fgfr2 | Fibroblast growth factor receptor 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q9I8N6 | csf1r | Macrophage colony-stimulating factor 1 receptor | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q90413 | fgfr4 | Fibroblast growth factor receptor 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q8JFR5 | kita | Mast/stem cell growth factor receptor kita | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q5MD89 | flt4 | Vascular endothelial growth factor receptor 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q9DE49 | pdgfra | Platelet-derived growth factor receptor alpha | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGTSHPAFLV | LGCLLTGLSL | ILCQLSLPSI | LPNENEKVVQ | LNSSFSLRCF | GESEVSWQYP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MSEEESSDVE | IRNEENNSGL | FVTVLEVSSA | SAAHTGLYTC | YYNHTQTEEN | ELEGRHIYIY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VPDPDVAFVP | LGMTDYLVIV | EDDDSAIIPC | RTTDPETPVT | LHNSEGVVPA | SYDSRQGFNG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TFTVGPYICE | ATVKGKKFQT | IPFNVYALKA | TSELDLEMEA | LKTVYKSGET | IVVTCAVFNN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EVVDLQWTYP | GEVKGKGITM | LEEIKVPSIK | LVYTLTVPEA | TVKDSGDYEC | AARQATREVK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EMKKVTISVH | EKGFIEIKPT | FSQLEAVNLH | EVKHFVVEVR | AYPPPRISWL | KNNLTLIENL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TEITTDVEKI | QEIRYRSKLK | LIRAKEEDSG | HYTIVAQNED | AVKSYTFELL | TQVPSSILDL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VDDHHGSTGG | QTVRCTAEGT | PLPDIEWMIC | KDIKKCNNET | SWTILANNVS | NIITEIHSRD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RSTVEGRVTF | AKVEETIAVR | CLAKNLLGAE | NRELKLVAPT | LRSELTVAAA | VLVLLVIVII |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SLIVLVVIWK | QKPRYEIRWR | VIESISPDGH | EYIYVDPMQL | PYDSRWEFPR | DGLVLGRVLG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SGAFGKVVEG | TAYGLSRSQP | VMKVAVKMLK | PTARSSEKQA | LMSELKIMTH | LGPHLNIVNL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LGACTKSGPI | YIITEYCFYG | DLVNYLHKNR | DSFLSHHPEK | PKKELDIFGL | NPADESTRSY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VILSFENNGD | YMDMKQADTT | QYVPMLERKE | VSKYSDIQRS | LYDRPASYKK | KSMLDSEVKN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LLSDDNSEGL | TLLDLLSFTY | QVARGMEFLA | SKNCVHRDLA | ARNVLLAQGK | IVKICDFGLA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RDIMHDSNYV | SKGSTFLPVK | WMAPESIFDN | LYTTLSDVWS | YGILLWEIFS | LGGTPYPGMM |
| 910 | 920 | 930 | 940 | 950 | 960 |
| VDSTFYNKIK | SGYRMAKPDH | ATSEVYEIMV | KCWNSEPEKR | PSFYHLSEIV | ENLLPGQYKK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SYEKIHLDFL | KSDHPAVARM | RVDSDNAYIG | VTYKNEEDKL | KDWEGGLDEQ | RLSADSGYII |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| PLPDIDPVPE | EEDLGKRNRH | SSQTSEESAI | ETGSSSSTFI | KREDETIEDI | DMMDDIGIDS |
| SDLVEDSFL |