P10721
EV
Gene name |
KIT (SCFR) |
Protein name |
Mast/stem cell growth factor receptor Kit |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3815 |
EC number |
2.7.10.1: Protein-tyrosine kinases |
Protein Class |
TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416) |
Descriptions
The c-Kit receptor protein-tyrosine kinase is tightly regulated in normal cells, whereas deregulated c-Kit kinase activity is implicated in the pathogenesis of human cancers. Crystal structures of c-Kit kinase reveal a manner in which the small juxtamembrane domain functions to maintain the kinase in an autoinhibited state. Insertion of this autoinhibitory domain into the cleft between the kinase N- and C-lobes flips the DFG motif into its off state, thereby inducing the activation loop to fold back over from its extended conformation in the active kinase where it binds as a pseudosubstrate at the kinase-active center.
Autoinhibitory domains (AIDs)
Target domain |
589-937 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
Structural analysis, Peptide inhibitor test, Mutagenesis experiment |
Accessory elements
809-834 (Activation loop from InterPro)
Target domain |
589-937 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Hubbard SR (2004) "Juxtamembrane autoinhibition in receptor tyrosine kinases", Nature reviews. Molecular cell biology, 5, 464-71
- Hubbard SR (2004) "Juxtamembrane autoinhibition in receptor tyrosine kinases", Nature reviews. Molecular cell biology, 5, 464-71
- Mol CD et al. (2004) "Structural basis for the autoinhibition and STI-571 inhibition of c-Kit tyrosine kinase", The Journal of biological chemistry, 279, 31655-63
Autoinhibited structure
Activated structure
43 structures for P10721
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1PKG | X-ray | 290 A | A/B | 549-935 | PDB |
| 1T45 | X-ray | 190 A | PDB | ||
| 1T46 | X-ray | 160 A | PDB | ||
| 2E9W | X-ray | 350 A | A/B | 26-514 | PDB |
| 2EC8 | X-ray | 300 A | A | 1-519 | PDB |
| 2IUH | X-ray | 200 A | B | 718-728 | PDB |
| 2VIF | X-ray | 145 A | P | 564-574 | PDB |
| 3G0E | X-ray | 160 A | PDB | ||
| 3G0F | X-ray | 260 A | PDB | ||
| 4HVS | X-ray | 190 A | A | 551-934 | PDB |
| 4K94 | X-ray | 240 A | C | 308-518 | PDB |
| 4K9E | X-ray | 270 A | C | 308-518 | PDB |
| 4PGZ | X-ray | 240 A | A/B/C | 308-518 | PDB |
| 4U0I | X-ray | 200 A | PDB | ||
| 6GQJ | X-ray | 233 A | A/B | 551-933 | PDB |
| 6GQK | X-ray | 231 A | PDB | ||
| 6GQL | X-ray | 201 A | A/B | 551-934 | PDB |
| 6GQM | X-ray | 200 A | A/B | 551-934 | PDB |
| 6HH1 | X-ray | 225 A | PDB | ||
| 6ITT | X-ray | 210 A | PDB | ||
| 6ITV | X-ray | 188 A | PDB | ||
| 6KLA | X-ray | 211 A | PDB | ||
| 6MOB | X-ray | 180 A | PDB | ||
| 6XV9 | X-ray | 338 A | PDB | ||
| 6XVA | X-ray | 230 A | PDB | ||
| 6XVB | X-ray | 215 A | PDB | ||
| 7KHG | X-ray | 215 A | A | 545-934 | PDB |
| 7KHJ | X-ray | 280 A | A/B | 545-934 | PDB |
| 7KHK | X-ray | 234 A | A/B | 545-934 | PDB |
| 7ZW8 | X-ray | 212 A | A | 551-935 | PDB |
| 7ZY6 | X-ray | 309 A | A | 551-935 | PDB |
| 8DFM | EM | 345 A | A/B | 32-976 | PDB |
| 8DFP | EM | 317 A | A/B | 32-976 | PDB |
| 8DFQ | EM | 396 A | A/B | 32-976 | PDB |
| 8PQ9 | X-ray | 170 A | PDB | ||
| 8PQA | X-ray | 165 A | PDB | ||
| 8PQB | X-ray | 187 A | PDB | ||
| 8PQC | X-ray | 177 A | PDB | ||
| 8PQD | X-ray | 150 A | PDB | ||
| 8PQE | X-ray | 200 A | PDB | ||
| 8PQF | X-ray | 190 A | PDB | ||
| 8PQG | X-ray | 240 A | PDB | ||
| AF-P10721-F1 | Predicted | AlphaFoldDB |
799 variants for P10721
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA356897838 rs1560366535 RCV000700352 |
3 | G>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553881759 RCV000633790 CA658796437 |
4 | A>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000633721 rs1192807264 CA356897846 |
4 | A>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA356897875 rs1285711357 RCV000693196 |
7 | A>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000633743 COSM1056091 CA356897904 rs1476871700 |
9 | D>N | endometrium Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000543355 CA356897989 rs748615975 |
17 | L>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2923118 RCV000470178 rs370787811 |
18 | L>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000544864 CA2923119 rs370787811 |
18 | L>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001024428 CA2923121 RCV001862287 rs747253141 |
19 | R>H | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1553881787 RCV000633811 CA356898011 |
20 | V>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001024778 CA356898012 rs1393581394 RCV001799720 |
20 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000551257 rs931395990 CA96859735 |
21 | Q>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA356896799 rs1560393066 RCV000703052 |
26 | Q>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356896803 rs1553887242 RCV000558903 |
27 | P>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA348866 rs864622699 RCV000204661 |
29 | V>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA96845542 RCV000697580 rs926559231 |
30 | S>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA356896824 rs1431394530 RCV000556799 |
31 | P>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA356896836 rs1553887257 RCV000633760 |
33 | E>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000459377 rs55755457 CA2923156 |
34 | P>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2923158 rs781633384 RCV000633807 |
36 | P>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000544616 rs1553887262 |
37 | P>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356896891 RCV000633768 rs746856550 |
42 | G>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16611512 RCV000471093 rs1060502551 |
45 | D>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000697963 CA356896906 rs1560393232 |
45 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs376469897 RCV000537272 COSM1328488 CA2923168 |
49 | R>H | ovary large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs376469897 CA2923169 COSM351040 RCV000689320 |
49 | R>P | lung Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200950545 CA2923171 RCV000471765 |
50 | V>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000544811 CA2923172 rs200950545 COSM42898 |
50 | V>M | large_intestine central_nervous_system stomach Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1146 RCV000456243 RCV000422536 rs121913505 CA2923175 |
52 | D>N | Neoplasm endometrium haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000534305 CA2923178 rs749431345 |
53 | E>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1560393393 RCV000686046 CA356896957 |
54 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2923182 rs557317141 RCV000465406 |
61 | P>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA356897028 rs1407600939 RCV000700293 |
65 | K>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs144933028 RCV000282556 CA2923187 RCV000332028 RCV000234428 RCV000764541 RCV000503289 |
67 | T>S | Mastocytosis Partial albinism Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001147970 rs1720013807 RCV001149523 RCV001149522 |
71 | L>V | Mastocytosis Partial albinism Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2923189 RCV000633764 rs147943899 |
74 | T>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2923191 rs371353189 RCV000633733 |
77 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000548771 CA356897141 rs1553887329 |
80 | N>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356897139 RCV000701498 rs1268194684 |
80 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000233785 CA2923193 rs201872586 COSM3380948 RCV000501837 |
84 | T>M | pancreas Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1060502560 CA16611579 RCV000464890 |
84 | T>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs794726674 RCV000014862 |
85 | E>missing | Partial albinism [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356897222 rs1560393612 RCV000706828 |
92 | T>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000465596 rs904550523 CA16611517 |
94 | K>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16611580 rs1060502564 RCV000468787 COSM22226 |
96 | T>M | genital_tract Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA16611518 rs1060502567 RCV000457161 |
98 | T>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1274601103 RCV000548226 CA356897283 RCV000764542 |
101 | H>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2923199 RCV000408357 rs781130745 RCV000308520 RCV000343525 |
101 | H>Y | Mastocytosis Partial albinism Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2923201 rs769632130 RCV000528217 COSM1056093 |
102 | G>S | endometrium Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16611485 RCV000464639 rs1060502559 |
104 | S>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772836939 CA96847748 RCV000553135 |
114 | P>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356897382 RCV000686976 rs1560395513 |
115 | A>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1577956572 CA356897387 RCV000802895 |
115 | A>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs189660852 RCV000473138 CA2923229 |
117 | L>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA356897409 rs1553887690 RCV000524580 |
119 | L>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000467961 rs371303702 CA2923231 COSM317523 |
123 | S>F | lung Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1560395607 RCV000689579 |
130 | N>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1567314 CA2923234 RCV000542136 rs764213036 |
130 | N>D | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000471351 COSM327106 CA16611486 rs1044091916 |
131 | D>N | haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA2923237 COSM3409367 RCV000633796 rs766253584 |
132 | T>M | central_nervous_system Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000466315 CA16611529 rs1060502542 |
133 | L>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000693967 CA2923239 rs754738766 |
135 | R>C | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000530638 CA356897558 rs1553887714 |
142 | E>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2923242 RCV000543092 rs758120380 |
144 | T>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16611530 rs1003144287 RCV000465370 |
145 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA356897604 rs1237279460 RCV000633849 |
149 | K>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA358329 RCV000210894 RCV000456468 rs367719489 |
155 | P>L | Gastrointestinal stromal tumor, familial Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000232388 rs777031731 CA2923246 |
155 | P>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs878853767 RCV000226299 CA10582252 |
156 | L>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2923248 rs775817289 RCV000704258 |
158 | K>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000554951 rs1201516128 CA356897675 |
160 | L>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000633758 CA2923250 rs764280416 |
161 | R>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA215593 RCV000034507 rs201222895 RCV001852696 |
162 | F>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000697358 rs200851152 CA96848107 |
168 | A>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV000121321 RCV000466526 COSM368376 CA160371 rs149092990 |
168 | A>V | lung Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1394659716 RCV000698787 CA356897735 |
170 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000560870 CA2923257 rs758171174 |
174 | S>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000148560 rs115585711 CA211566 RCV000514124 |
178 | A>T | Partial albinism [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553887765 CA356897939 RCV000633730 |
188 | V>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502547 CA16611531 RCV000477210 |
190 | Q>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000549741 rs1268420042 CA356898005 |
192 | G>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10582254 rs878853769 RCV000229809 |
213 | V>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356898205 rs1163691210 RCV000697830 |
217 | S>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16611538 rs1060502549 RCV000477317 |
220 | S>C | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000810337 CA356898299 rs1577958652 |
226 | G>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000691519 rs1560396887 CA356898343 |
229 | F>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs767174569 CA2923295 RCV000687579 |
232 | T>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2923297 RCV000697055 rs374957554 |
236 | K>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA356898538 RCV000539714 rs1553887944 |
242 | V>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232729 rs754400702 CA2923299 |
245 | T>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM1430117 rs755508624 CA2923300 RCV000552165 |
245 | T>M | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16611590 RCV000462564 rs1060502571 |
249 | E>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000527606 CA356898660 rs1553887953 |
250 | N>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs748527429 RCV000540047 CA2923302 |
250 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553887960 RCV000552533 |
251 | S>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2923318 RCV000530052 rs765944197 |
253 | T>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA356899295 RCV000704210 rs755490030 |
258 | K>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000034508 rs200422460 CA215596 RCV000547076 |
259 | Y>C | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16611657 rs1060502570 RCV000470377 |
265 | G>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs138585275 RCV000034509 RCV000210905 CA215599 |
274 | T>M | Gastrointestinal stromal tumor, familial [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000469535 CA16611541 rs757547974 |
277 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA215602 rs386833402 RCV000034510 RCV000633787 COSM447951 |
280 | A>V | breast Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs147367441 CA2923329 RCV000633771 |
281 | R>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs771961192 CA2923330 RCV000227234 |
282 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000633810 rs1363221725 CA356899965 |
289 | M>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA2923332 RCV000231125 rs137909416 |
293 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000633739 CA356900072 rs1553888402 |
296 | F>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878853770 CA10582255 RCV000234073 |
300 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA2923335 rs759119367 RCV000633845 |
301 | V>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs753258292 CA2923336 RCV000548950 |
306 | E>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000230762 CA2923351 rs769399180 |
318 | M>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000228971 CA211569 rs143388949 |
318 | M>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1060502539 RCV000475447 CA16611660 |
323 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000633799 CA2923355 rs752061752 |
327 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10582256 RCV000231141 rs878853757 |
343 | P>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1560401964 RCV000693097 CA356901005 |
345 | H>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16611592 RCV000472330 rs1060502555 |
346 | Q>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2923359 rs756286159 RCV000460615 |
349 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000206375 rs864622728 CA350416 |
350 | Y>C | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000633824 CA356901055 rs1553888790 |
351 | M>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs372759291 RCV000633803 CA2923360 |
352 | N>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs1560402002 RCV000685949 CA356901062 |
352 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000557148 rs753844400 CA2923361 |
360 | E>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs375734891 CA2923362 RCV000470430 |
364 | K>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000473251 rs1060502552 CA16611496 |
367 | N>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000229114 rs878853758 CA10582257 |
370 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000226794 CA2923392 rs73137716 |
374 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs376275305 CA2923394 RCV000686626 |
379 | L>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1459751065 RCV000688702 CA356902105 |
379 | L>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001149640 RCV001149639 RCV000467234 CA2923396 rs760981584 |
380 | T>M | Mastocytosis Partial albinism Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776734905 CA2923398 RCV000699913 |
385 | T>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1721001014 RCV001233830 |
390 | Y>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553889094 CA356902406 RCV000633797 |
394 | V>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553889095 RCV000557930 CA356902448 |
396 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000694084 rs1560404023 CA891843211 |
398 | D>EF | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000551264 COSM1430120 CA356902522 rs1553889101 |
399 | V>A | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM51494 RCV000231519 RCV000121322 CA160374 rs143707288 |
399 | V>I | haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs778615486 CA2923407 RCV000633746 |
401 | A>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs878853759 CA10582258 RCV000226360 |
403 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA356902619 RCV000633762 rs1345754212 |
404 | A>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1272269119 COSM275750 CA356902609 RCV000697126 |
404 | A>T | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV001862767 RCV001010374 CA2923409 rs771574892 |
406 | N>S | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16611665 rs1060502548 RCV000462418 |
410 | N>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752354428 CA2923444 RCV000548330 |
419 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1560414379 CA356905437 RCV000701274 |
421 | L>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000699413 CA356905446 rs1560414398 |
422 | V>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356905505 rs1560414419 RCV000697745 COSM3746664 |
425 | M>I | liver Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs878853760 RCV000368628 CA10582259 RCV000229208 RCV000315366 |
425 | M>K | Mastocytosis Partial albinism Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000468923 CA16611551 rs758061831 |
426 | L>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000705628 rs1560414436 CA356905536 |
427 | Q>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16611595 RCV000477352 rs1060502540 |
430 | A>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000695498 rs780382854 CA2923452 |
438 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000633846 rs1553891024 CA356905742 |
442 | F>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000633847 CA356905765 rs1351743650 |
446 | T>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1577988952 CA356905776 RCV001010967 |
448 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000542414 CA2923457 rs542718349 COSM3381021 |
448 | Q>H | pancreas Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1060502556 RCV000461759 CA16611498 |
451 | S>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000462044 rs145183977 CA2923476 |
451 | S>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1560415938 RCV000688276 CA356906235 |
454 | V>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356906260 RCV000633836 rs1553891403 |
458 | D>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000633737 rs1282859149 CA356906307 |
466 | G>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000543221 rs200518498 CA215584 COSM3661127 RCV000034503 |
468 | P>L | liver Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs200518498 CA96874777 RCV000530622 |
468 | P>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA356906329 RCV000633718 rs1553891415 COSM24637 |
469 | F>L | large_intestine bone Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA2923485 RCV000555782 rs749914029 |
470 | G>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1471406283 RCV000687945 CA356906334 |
471 | K>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000531378 rs1185109256 CA356906381 |
478 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000633741 CA356906407 rs1553891429 |
481 | S>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000468856 CA16611597 rs1060502569 |
482 | A>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA356906432 rs1553891439 RCV000556537 |
485 | H>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356906431 RCV000544008 rs1553891437 |
485 | H>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs56225530 RCV000696644 CA2923492 |
488 | T>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM327599 rs1057519701 CA16602386 RCV000419707 |
490 | E>K | thymus Thymoma [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000463995 CA2923497 COSM1430132 rs143179681 |
496 | D>N | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1439977705 CA356906532 RCV000699193 |
497 | V>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1439977705 CA356906534 RCV000687137 |
497 | V>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM53305 rs1057519702 RCV000430398 CA16602387 |
504 | F>L | large_intestine Melanoma skin [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA2923522 RCV000233403 RCV000764543 rs569408054 |
518 | P>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000692754 CA356906890 rs1560416964 |
518 | P>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000475580 rs370364842 CA2923523 |
519 | H>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2923524 rs772866513 RCV000227249 |
523 | T>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1226259110 CA356907008 RCV000701399 |
528 | G>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000526280 rs1326606159 CA356907002 |
528 | G>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA160350 RCV000121314 rs72550822 COSM1155 RCV000234206 |
530 | V>I | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2923528 RCV000227916 rs55792975 VAR_042021 |
532 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA356907069 VAR_081063 rs753212327 RCV000656677 |
533 | A>D | MASTC; unknown pathological significance Cutaneous mastocytosis [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA350360 rs753212327 RCV000206315 |
533 | A>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs763411938 CA2923530 RCV000702924 |
535 | M>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1722286613 RCV001327160 |
538 | I>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356907323 rs1560417124 RCV000688566 |
538 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000473298 CA2923534 RCV000660489 rs781371383 |
539 | I>T | Mastocytosis Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356907330 RCV000699000 rs1476093811 |
539 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2923536 RCV000456229 rs756179543 |
540 | V>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000261290 RCV000034504 RCV000315844 rs3822214 CA160347 RCV000422326 RCV000121313 COSM28026 RCV000370023 |
541 | M>L | Mastocytosis Partial albinism Chronic myelogenous leukemia, BCR-ABL1 positive stomach Gastrointestinal stromal tumor [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553891698 RCV000527630 CA356907347 |
542 | I>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000423846 COSM1167 rs1057519703 CA16602389 |
550 | K>N | Melanoma soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000441099 COSM1167 rs1057519703 CA16602388 |
550 | K>N | Melanoma soft_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000771008 rs1560417385 |
551 | P>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587776804 RCV000014868 |
551 | P>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001208702 CA356907431 COSM250098 rs1482011071 |
552 | M>I | large_intestine skin Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs1560417396 RCV000771009 |
552 | M>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM17945 RCV000539662 rs746805825 CA2923558 |
552 | M>T | large_intestine haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553891726 RCV000552287 CA356907437 |
553 | Y>C | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16602390 rs1057519704 RCV000434537 COSM133763 RCV000438425 |
553 | Y>N | thymus Thymoma Melanoma skin [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000771011 rs1560417438 |
556 | Q>* | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000431900 COSM1219 rs121913235 RCV000421211 CA16602391 COSM1216 |
557 | W>R | genital_tract thymus Melanoma skin soft_tissue testis haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA16602392 COSM1219 RCV000442970 RCV000432558 rs121913235 RCV000425331 COSM1216 |
557 | W>R | genital_tract thymus Thymoma Melanoma skin soft_tissue testis haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000771010 rs1560417427 |
557 | W>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057520032 COSM1231 CA356907463 RCV000541020 RCV000761057 |
557 | W>* | B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000208566 rs869025568 |
557 | W>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057520033 RCV000439662 CA16603142 COSM19108 COSM133700 |
557 | W>C | genital_tract skin Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000428828 CA16603144 rs1057520035 |
557 | W>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16603140 rs121913235 COSM1221 RCV000417409 |
557 | W>G | skin soft_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000438560 CA16603139 rs1057520032 COSM1227 |
557 | W>S | soft_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA16603141 COSM30551 rs1057520031 RCV000429441 |
558 | K>E | salivary_gland large_intestine skin Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA16602394 COSM19216 COSM1246 RCV000426003 RCV000436617 rs200375589 |
558 | K>N | Melanoma soft_tissue Gastrointestinal stromal tumor [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM19216 COSM1246 RCV000443034 rs200375589 CA16602393 RCV001861472 |
558 | K>N | Melanoma soft_tissue Gastrointestinal stromal tumor [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA16603138 rs1057520031 RCV000428356 |
558 | K>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_007965 RCV000428023 RCV000014873 RCV000432801 rs121913685 |
559 | V>missing | GIST Thymoma Melanoma Gastrointestinal stromal tumor, familial [UniProt, ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
rs121913685 VAR_033128 RCV000014858 |
559 | V>missing | GIST; somatic mutation Gastrointestinal stromal tumor [UniProt, ClinVar] | Yes |
ClinVar UniProt dbSNP |
|
RCV000771012 rs1560417535 |
559 | V>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121913517 CA123545 RCV000430728 COSM1255 RCV000420045 RCV000663345 VAR_033126 RCV000437270 RCV000014879 |
559 | V>A | GIST thymus Thymoma large_intestine Melanoma skin Gastrointestinal stromal tumor, familial soft_tissue Cutaneous mastocytosis haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA123522 rs121913517 RCV000419360 VAR_033127 RCV000014870 COSM1252 |
559 | V>D | GIST; somatic mutation Melanoma skin soft_tissue Gastrointestinal stromal tumor [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000441453 rs121913517 CA16602395 COSM1253 RCV000420731 |
559 | V>G | Melanoma skin soft_tissue Gastrointestinal stromal tumor [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs121913520 COSM1251 RCV000436995 RCV000426761 CA16602523 |
559 | V>I | endometrium haematopoietic_and_lymphoid_tissue Myeloproliferative neoplasm Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000432167 CA16602397 COSM36302 RCV001861473 rs121913521 |
560 | V>A | Melanoma soft_tissue Gastrointestinal stromal tumor [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000421479 CA16602396 RCV000438714 COSM1257 rs121913521 |
560 | V>D | genital_tract Melanoma skin soft_tissue haematopoietic_and_lymphoid_tissue breast Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA16602398 COSM1260 RCV000439325 RCV000422100 rs121913521 |
560 | V>G | Melanoma skin soft_tissue haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs794726673 RCV000014860 |
561 | E>missing | Partial albinism [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553891764 CA356907490 RCV000633735 |
562 | E>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000553074 rs780708976 CA2923559 |
563 | I>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000529216 rs1553891768 CA356907497 |
563 | I>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2923560 RCV000700635 COSM1430150 rs745463319 |
564 | N>Y | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1057519705 COSM1273 RCV000432830 CA16602399 |
566 | N>D | large_intestine Melanoma skin haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000702843 CA356907520 rs1016976398 |
567 | N>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000546381 CA96875766 rs1016976398 |
567 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16602400 rs1057519706 RCV000442809 COSM28037 |
569 | V>G | Melanoma skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000554408 CA160353 rs587778431 RCV000121315 |
571 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060502550 CA16611506 COSM235681 RCV000464044 |
574 | T>A | large_intestine skin Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000633781 rs1307097576 CA356907565 COSM1287 |
574 | T>I | haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV000771015 rs1560417673 |
575 | Q>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000433543 rs121913513 RCV000426330 RCV000426967 COSM1290 CA16602401 RCV000443552 |
576 | L>P | genital_tract thymus Thymoma NS Melanoma skin Non-small cell lung carcinoma testis Gastrointestinal stromal tumor large_intestine soft_tissue haematopoietic_and_lymphoid_tissue breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1131692239 RCV000437669 |
577 | P>missing | Thymoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000458760 rs1060502543 |
579 | D>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA123509 rs121913680 RCV000014861 VAR_004104 |
583 | E>K | PBT Partial albinism [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_033129 RCV000014878 CA123543 rs28933371 |
584 | F>C | PBT Partial albinism [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA123502 VAR_004105 COSM33974 rs794726671 |
584 | F>L | salivary_gland PBT large_intestine breast [Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt Ensembl dbSNP |
|
RCV000771013 rs1560417642 |
586 | R>NPTQLPYDHKWEFP | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1560417666 RCV000771014 |
589 | L>PQLPYDHKWEFPRNR | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000475124 rs375351432 COSM48473 CA2923579 |
594 | T>I | lung Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs768214921 RCV000535899 CA2923581 |
597 | A>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356907990 rs1553891888 RCV000543814 |
605 | E>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1212553 RCV000473035 CA16611669 rs891140054 |
616 | A>V | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV000536820 rs199787524 CA2923586 |
618 | M>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000029170 CA129932 rs387907217 |
620 | V>A | Piebaldism, progressive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1560418178 RCV000685166 CA356908197 |
621 | A>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA96876046 RCV000633832 rs1032761406 |
627 | P>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM1559703 RCV000474974 rs1032761406 CA16611671 |
627 | P>T | central_nervous_system Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA2923607 rs373554876 RCV000473539 |
630 | H>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553891944 COSM133775 CA356908438 RCV000556564 |
632 | T>I | skin Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs766264502 RCV000537164 CA2923612 |
634 | R>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs144369407 CA2923610 RCV000459314 COSM1600403 |
634 | R>W | genital_tract haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC dbSNP gnomAD |
|
rs794726672 RCV000014859 |
642 | K>missing | Partial albinism [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000429594 rs121913512 RCV000419318 COSM1304 RCV000428892 CA123547 RCV000436303 RCV000418637 RCV000014880 |
642 | K>E | Melanoma skin Gastrointestinal stromal tumor, familial Hematologic neoplasm soft_tissue Gastric adenocarcinoma breast Malignant melanoma of skin Gastrointestinal stromal tumor [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV000428962 CA16602875 rs1057519907 RCV000439220 |
642 | K>N | Gastric adenocarcinoma Malignant melanoma of skin [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502566 CA16611604 RCV000463831 |
645 | S>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs534209826 CA2923614 RCV000458431 |
651 | M>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs121913523 RCV000427620 RCV000442533 CA16602402 COSM12706 |
654 | V>A | large_intestine Melanoma soft_tissue haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA16602524 RCV000439135 rs121913523 |
654 | V>E | Melanoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000417636 COSM235682 CA16602404 rs1057519708 |
655 | N>K | Melanoma skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000549644 RCV000428319 rs1057519708 COSM235682 CA16602405 |
655 | N>K | Melanoma skin Gastrointestinal stromal tumor [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1057519707 RCV000701684 CA16602403 RCV000438326 |
655 | N>S | Melanoma Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_004106 COSM1272087 COSM51380 rs121913679 CA123500 RCV000014855 |
664 | G>R | salivary_gland PBT Partial albinism breast [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1560419312 RCV000522612 CA356909166 |
667 | L>R | Partial albinism [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM12708 CA16602525 rs121913516 RCV000421498 |
670 | T>I | soft_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA2923635 rs764970586 RCV001331078 |
675 | Y>C | Partial albinism [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000701594 rs1560419344 CA356909424 |
681 | F>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000228275 CA10582263 rs878853763 |
681 | F>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs148771698 RCV000458048 CA2923637 |
686 | R>C | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs143772138 CA2923638 RCV000764544 RCV000527116 |
686 | R>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000538990 CA96877036 rs924104591 |
690 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1277986442 CA356909672 RCV000705472 |
695 | E>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2923641 RCV000705844 rs781588289 |
696 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000435524 rs763308199 COSM36053 RCV000477391 CA2923642 |
697 | H>Y | thymus Thymoma large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000475396 rs780329057 CA2923644 |
698 | A>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000470309 CA2923647 rs541585774 |
702 | L>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000764545 rs768847037 CA2923646 RCV000458317 |
702 | L>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746990067 CA2923648 RCV000555979 |
703 | Y>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356909794 rs1553892256 RCV000532027 |
704 | K>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16611605 rs1060502544 RCV000465808 |
711 | E>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
COSM12707 CA2923671 RCV000473358 rs769701248 |
716 | D>N | soft_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000704576 rs1560420761 |
717 | S>* | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2923672 rs564307874 RCV000533515 |
718 | T>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA356910114 RCV000697139 rs1560420768 |
719 | N>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1560420790 CA356910198 RCV000700230 |
724 | M>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000459555 rs992027457 CA16611677 |
733 | P>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs751005114 RCV000230062 COSM21303 CA2923678 VAR_042025 |
737 | D>N | large_intestine endometrium a colorectal adenocarcinoma sample; somatic mutation Gastrointestinal stromal tumor [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs549887751 CA2923681 RCV000686261 |
744 | I>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs572852980 CA2923702 RCV000226624 COSM19111 |
748 | I>T | haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000633731 CA356910832 COSM1430175 rs1317162648 |
748 | I>V | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000700762 CA356910839 rs1560421189 |
749 | E>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA2923703 rs541362004 RCV000633821 |
750 | R>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA16611513 rs1060502554 RCV000467776 |
750 | R>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1553892672 CA356910871 RCV000633750 |
754 | P>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201165084 RCV000034506 CA215590 RCV000460230 |
755 | A>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs758252647 RCV000546351 CA96878407 |
755 | A>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs779862483 RCV000466663 CA16611515 |
756 | I>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000633755 CA2923707 rs779862483 |
756 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2923708 RCV000633719 rs749166896 |
758 | E>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000694283 rs754826149 CA2923709 |
759 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747847018 RCV000477329 CA2923711 |
760 | D>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000633816 CA356910935 rs1553892703 |
764 | L>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000764546 CA16611564 rs1060502545 RCV000467536 |
765 | D>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs760112920 CA2923717 RCV000547829 |
765 | D>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA356911042 rs1553892709 RCV000560234 |
774 | Y>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356911138 RCV000633813 rs1379848125 |
783 | L>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1309976246 CA356911149 COSM1430176 RCV000536268 |
784 | A>T | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001203609 rs1722629110 |
785 | S>F | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10582265 rs202144208 RCV000227349 |
786 | K>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001854634 RCV000121316 CA160356 rs587778432 |
786 | K>NY | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000014872 rs121913684 CA123527 VAR_033132 COSM51381 |
796 | R>G | salivary_gland PBT; with sensorineural deafness Piebaldism with sensorineural deafness breast [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000699981 CA2923772 rs777616126 |
804 | R>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000528751 CA2923771 COSM20402 VAR_042026 rs145602440 |
804 | R>W | eye large_intestine endometrium a colorectal adenocarcinoma sample; somatic mutation Gastrointestinal stromal tumor [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1311 RCV000379347 VAR_033134 rs121913506 RCV000439677 RCV000418294 CA123540 RCV000428990 RCV000505647 RCV000014877 |
816 | D>H | Dysgerminoma ovary Germ cell tumor of testis Melanoma skin Hematologic neoplasm soft_tissue testis haematopoietic_and_lymphoid_tissue a testicular tumor; seminoma; somatic mutation; constitutively activated breast Gastrointestinal stromal tumor [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
RCV000432380 rs1057519709 VAR_081064 CA16602406 |
816 | D>I | MASTC; somatic mutation; constitutively activated; requires 2 nucleotide substitutions Acute myeloid leukemia [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA123513 RCV000444150 RCV000656676 RCV000431704 RCV000014864 RCV000505554 RCV000443179 RCV000656674 RCV000656675 COSM1314 VAR_004109 rs121913507 RCV000656673 |
816 | D>V | genital_tract Dysgerminoma MAST CELL LEUKEMIA, SOMATIC skin testis Cutaneous mastocytosis Gastrointestinal stromal tumor MASTOCYTOSIS, SYSTEMIC, SOMATIC ovary Hematologic neoplasm MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, SOMATIC haematopoietic_and_lymphoid_tissue Mast cell leukemia Acute myeloid leukemia MASTSYS, MASTC and mast cell leukemia; somatic mutation; constitutively activated; loss of interaction with MPDZ [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000014874 RCV000429574 rs121913506 RCV000663344 CA280196 RCV000422812 COSM1310 VAR_023828 RCV000422151 |
816 | D>Y | genital_tract ovary MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC large_intestine Melanoma Hematologic neoplasm MASTSYS and MASTC; also found in acute myeloid leukemia and a germ cell tumor of the testis; somatic mutation; constitutively activated testis haematopoietic_and_lymphoid_tissue Acute myeloid leukemia Gastrointestinal stromal tumor [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP |
|
RCV000470229 rs1060502521 |
819 | N>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000442445 COSM19280 CA16602409 COSM12709 rs1057519711 |
820 | D>E | thymus Thymoma soft_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
VAR_033135 RCV000014867 rs121913682 COSM1316 CA123516 |
820 | D>G | MASTOCYTOSIS, SYSTEMIC, SOMATIC testis mast cell disease; systemic haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
COSM22379 CA16602407 RCV000427793 rs1057519710 |
820 | D>H | Melanoma soft_tissue testis [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM1317 CA16602605 rs121913682 RCV000425679 |
820 | D>V | genital_tract Systemic mast cell disease testis [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1057519710 RCV000437969 COSM12710 CA16602408 |
820 | D>Y | genital_tract Melanoma skin soft_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000427071 RCV000437313 rs993022333 CA16602410 VAR_081065 |
822 | N>I | Melanoma MASTC; constitutively activated Gastrointestinal stromal tumor [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
VAR_023829 CA16602411 COSM1320 RCV000436687 RCV000419670 RCV000429954 COSM1322 rs121913514 COSM1321 |
822 | N>K | genital_tract a germ cell tumor of the testis; somatic mutation Melanoma skin soft_tissue testis haematopoietic_and_lymphoid_tissue Acute myeloid leukemia Gastrointestinal stromal tumor [Cosmic, UniProt, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000429190 COSM1320 rs121913514 RCV001269906 RCV000419001 COSM1322 CA16602412 RCV000439434 COSM1321 |
822 | N>K | genital_tract Melanoma skin soft_tissue testis haematopoietic_and_lymphoid_tissue Acute myeloid leukemia Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1057519761 CA16602561 RCV000439224 COSM18681 |
823 | Y>D | soft_tissue testis Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs121913524 CA16602706 COSM1323 RCV000440432 |
825 | V>A | large_intestine Melanoma haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000233042 rs878853765 COSM19110 CA10582266 |
825 | V>I | haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1060502557 CA16611682 RCV000471071 |
828 | N>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000707231 rs1560422319 CA356912091 |
828 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM13172 VAR_023830 rs1057519713 RCV000428554 CA16602413 RCV000421785 |
829 | A>P | a germ cell tumor of the testis; somatic mutation Melanoma testis Gastrointestinal stromal tumor [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000633767 rs772311731 CA2923784 |
830 | R>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000428235 CA123537 COSM1324 VAR_033136 RCV000014876 rs121913509 |
839 | E>K | Mastocytosis MASTC; sporadic case; somatic mutation; dominant negative mutation; loss of autophosphorylation haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [ClinVar, UniProt, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA356913107 rs1560424620 RCV000698217 |
843 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs147609111 CA16611611 RCV000477298 |
844 | C>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
COSM133780 CA16611610 rs147609111 RCV000472192 |
844 | C>Y | skin Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000461797 rs752695117 CA2923788 COSM1212555 |
847 | T>M | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
VAR_033137 RCV000014875 rs121913687 CA123535 |
847 | T>P | PBT Partial albinism [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs555650901 CA160362 RCV000470685 COSM1734911 RCV000121318 |
852 | V>I | pancreas Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553893452 RCV000555095 CA356913377 |
861 | E>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000472054 CA2923809 rs143074839 |
867 | S>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs755797225 CA2923811 RCV000691440 |
871 | P>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16611687 RCV000468619 rs1060502546 |
872 | G>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000227546 CA2923813 rs753419764 |
874 | P>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2923817 rs778078182 RCV000633831 |
876 | D>E | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs372795544 RCV000477090 CA2923816 |
876 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1379854779 CA356913801 RCV000555441 |
878 | K>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1560424920 CA356913869 RCV000692703 |
882 | M>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356913915 rs1553893498 RCV000633804 |
885 | E>K | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs776681643 RCV000463362 COSM1056113 CA2923820 |
888 | R>Q | large_intestine endometrium Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1201021287 CA356913999 RCV000697826 |
891 | S>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1560424985 CA356914003 RCV000702012 |
891 | S>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000633740 CA2923822 rs141126803 |
894 | H>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000456978 COSM226107 rs774405431 CA2923823 |
895 | A>T | NS Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000531489 rs1250080954 CA356914071 |
897 | A>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000706451 rs1307420759 CA356914104 |
899 | M>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1553893567 RCV000543968 CA356914240 |
904 | K>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000464678 rs190512512 COSM29358 CA2923843 |
910 | D>Y | haematopoietic_and_lymphoid_tissue Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2923844 RCV000556945 rs772159767 |
911 | P>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA356914324 RCV000633817 rs1553893575 |
911 | P>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1453023259 CA356914384 RCV000633809 |
916 | T>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000460425 CA16611701 rs1060502562 |
920 | I>V | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000633827 rs1553893587 CA356914454 |
921 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000691826 rs1560425417 CA356914471 |
922 | Q>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000469112 CA16611525 rs1000138811 |
924 | I>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000691923 rs759076549 CA2923849 |
930 | E>D | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001297444 rs1722974200 |
931 | S>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
CA356914595 rs1553893597 RCV000699507 |
932 | T>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000545461 CA356914589 rs1553893597 |
932 | T>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752222954 RCV000822103 CA2923852 |
933 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs752222954 CA356914603 RCV000707075 |
933 | N>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16611576 rs764592751 RCV000472728 |
934 | H>Q | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000477548 rs762406098 CA2923853 |
934 | H>R | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000691501 CA356915683 rs1560426319 |
937 | S>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA356915696 rs1339197346 RCV000557864 |
938 | N>H | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1553893797 RCV000537815 |
945 | N>missing | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699144 CA2923879 rs139000082 RCV000764547 COSM287381 |
946 | R>* | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs779103998 CA16611526 RCV000460172 COSM177232 |
946 | R>Q | large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA16611528 RCV000457864 rs1060502558 |
947 | Q>* | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2923882 rs146374006 RCV000466972 |
950 | V>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553893816 RCV000505599 |
951 | V>* | Dysgerminoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2923884 rs745651409 RCV000633773 |
951 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000466677 CA16611618 rs1060502568 RCV000764548 |
955 | V>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA356916226 RCV000703965 rs1060502568 |
955 | V>M | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000473422 CA2923885 COSM71350 rs139694927 |
956 | R>Q | ovary large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1056114 RCV000121320 RCV000458514 rs587778433 CA160368 |
956 | R>W | large_intestine endometrium Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356916288 RCV000723294 rs1560426461 |
958 | N>D | Systemic mast cell disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16611715 rs1060502563 RCV000459009 |
958 | N>S | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000233983 RCV000764549 rs773828910 CA2923888 COSM71352 RCV000509029 |
961 | G>S | ovary large_intestine Gastrointestinal stromal tumor [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000463230 CA2923891 rs773709702 RCV000764550 |
963 | T>A | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000558225 CA2923893 rs766845123 |
964 | A>T | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2923896 rs765503364 RCV000633715 |
966 | S>Y | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000764551 RCV000534255 CA356916509 rs1232060384 |
967 | S>C | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000704050 CA356916550 rs1560426544 |
969 | P>L | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA96883801 RCV000693878 rs929287265 |
971 | L>P | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs72549297 RCV000460323 CA2923902 |
974 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2923904 RCV000693658 rs768320570 |
975 | D>G | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000270147 CA10617852 RCV000384371 rs373152714 RCV000325256 |
975 | D>H | Mastocytosis Partial albinism Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000228876 CA2923903 rs373152714 |
975 | D>N | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000551854 CA2923905 rs773955363 |
976 | V>I | Gastrointestinal stromal tumor [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA356897834 rs1577898451 |
3 | G>R | No |
ClinGen Ensembl |
|
|
rs1192807264 CA356897847 |
4 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1192807264 CA356897845 |
4 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA356897853 rs1423062466 |
4 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356897887 rs1577898533 |
8 | W>R | No |
ClinGen Ensembl |
|
|
rs934366239 CA96859694 |
11 | L>F | No |
ClinGen Ensembl |
|
|
rs753316557 CA2923114 |
13 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA356897961 rs1297912833 |
14 | L>V | No |
ClinGen TOPMed |
|
|
CA356897974 rs1230808481 |
15 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs748615975 CA2923117 |
17 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA356898002 COSM1310134 rs1490714621 |
19 | R>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA915943132 rs1577898667 |
19 | R>L | No |
ClinGen Ensembl |
|
|
CA2923120 rs747253141 |
19 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA2923124 rs769943127 |
22 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356896788 rs1577952322 |
24 | S>C | No |
ClinGen Ensembl |
|
|
rs759129060 CA96845519 |
26 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2923151 rs759129060 |
26 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2923152 rs764782713 |
26 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1307431391 CA356896804 |
27 | P>L | No |
ClinGen TOPMed |
|
|
CA356896808 rs1330171716 |
28 | S>A | No |
ClinGen gnomAD |
|
|
rs1330171716 CA356896809 |
28 | S>P | No |
ClinGen gnomAD |
|
|
CA2923155 rs764636807 |
29 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1431394530 CA356896825 |
31 | P>A | No |
ClinGen TOPMed |
|
|
rs1560393121 CA356896828 |
31 | P>R | No |
ClinGen Ensembl |
|
|
RCV000121319 CA160365 rs55755457 |
34 | P>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs781633384 CA2923159 COSM447948 |
36 | P>T | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1298190443 CA356896871 |
39 | I>V | No |
ClinGen gnomAD |
|
|
CA2923162 rs373374682 |
40 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780042351 CA2923161 |
40 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2923163 rs768569749 |
41 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2923164 rs746856550 |
42 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA2923165 rs770727656 |
43 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1392637180 CA356896913 |
46 | L>V | No |
ClinGen gnomAD |
|
|
rs776395578 CA2923166 |
47 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs959500527 CA96845575 |
47 | I>V | No |
ClinGen TOPMed |
|
|
COSM1212554 rs759250095 CA2923167 |
49 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA356896933 rs376469897 |
49 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356896941 rs1404387908 |
51 | G>D | No |
ClinGen TOPMed |
|
|
rs756456973 COSM1212556 CA2923176 |
52 | D>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2923177 rs780349712 |
53 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1060504651 CA356896970 |
56 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2923179 rs755092278 |
57 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs747004948 CA2923181 |
59 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2923183 rs557317141 |
61 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356897016 rs1349391161 |
63 | F>S | No |
ClinGen gnomAD |
|
|
rs1560393475 CA356897031 |
65 | K>R | No |
ClinGen Ensembl |
|
|
CA356897044 rs139441923 |
67 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144933028 CA356897046 |
67 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139441923 CA2923186 |
67 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356897065 rs1577952856 |
70 | I>F | No |
ClinGen Ensembl |
|
|
CA356897068 rs1269381664 |
70 | I>N | No |
ClinGen TOPMed |
|
|
rs1210962059 CA356897077 |
72 | D>Y | No |
ClinGen TOPMed |
|
|
rs201872586 CA356897169 |
84 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356897213 rs1478203750 |
91 | N>H | No |
ClinGen gnomAD |
|
|
CA96845816 rs146081659 |
94 | K>E | No |
ClinGen Ensembl |
|
|
rs867439564 COSM1430108 CA96845827 |
96 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1577953102 CA356897261 |
98 | T>N | No |
ClinGen Ensembl |
|
|
rs779652404 CA2923202 |
106 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96845885 rs780922356 |
107 | I>S | No |
ClinGen Ensembl |
|
|
rs749024557 CA2923203 |
107 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2923227 rs772836939 |
114 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772836939 CA2923226 |
114 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867851465 CA96847768 |
116 | K>E | No |
ClinGen Ensembl |
|
|
CA356897391 rs1435179275 |
116 | K>R | No |
ClinGen TOPMed |
|
|
CA2923233 rs763100661 |
129 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs948408318 CA96847806 |
129 | D>G | No |
ClinGen Ensembl |
|
|
CA2923236 rs756128407 |
132 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA356897512 rs1174814949 |
135 | R>H | No |
ClinGen gnomAD |
|
|
rs778793243 CA2923240 |
140 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA356897553 rs1365630101 |
141 | P>L | No |
ClinGen TOPMed |
|
|
rs758120380 CA356897569 |
144 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA356897574 rs1410602158 |
145 | N>D | No |
ClinGen gnomAD |
|
|
rs145053429 CA96847996 |
152 | Q>E | No |
ClinGen ESP |
|
|
CA2923245 rs770422212 |
153 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA356897652 rs1276125047 |
157 | P>A | No |
ClinGen TOPMed |
|
|
CA356897651 rs1276125047 |
157 | P>S | No |
ClinGen TOPMed |
|
|
rs770362669 CA2923247 |
158 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs775817289 CA356897659 |
158 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763226471 CA2923249 |
160 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA356897703 rs1280787320 |
165 | D>N | No |
ClinGen TOPMed |
|
|
CA2923254 rs149092990 |
168 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752511532 CA2923256 |
171 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1577957143 CA356897867 |
184 | L>M | No |
ClinGen Ensembl |
|
|
CA356897895 rs1227095960 |
185 | H>Q | No |
ClinGen gnomAD |
|
|
rs770279902 CA2923262 |
188 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs780434119 CA2923263 |
191 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1489233873 CA356897980 |
191 | E>Q | No |
ClinGen gnomAD |
|
|
CA356898010 rs1451394869 |
193 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2923265 rs768971014 |
196 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs772105682 CA2923268 |
200 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96848255 rs1019588542 |
201 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1417793819 CA356898160 |
210 | A>T | No |
ClinGen TOPMed |
|
|
rs1456585233 CA356898163 |
210 | A>V | No |
ClinGen gnomAD |
|
|
rs1290764669 CA356898166 |
211 | V>M | No |
ClinGen Ensembl |
|
|
rs775569383 CA2923290 |
214 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163691210 CA356898203 |
217 | S>Y | No |
ClinGen TOPMed |
|
|
rs1311536541 CA356898217 |
219 | A>G | No |
ClinGen gnomAD |
|
|
rs141679490 CA96849348 |
219 | A>P | No |
ClinGen Ensembl |
|
|
CA2923292 rs763853854 |
221 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1353141725 CA356898237 |
221 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1353141725 CA356898235 |
221 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1330251750 CA356898281 |
225 | E>Q | No |
ClinGen gnomAD |
|
|
rs1186424416 CA356898370 |
230 | T>I | No |
ClinGen TOPMed |
|
|
rs767174569 CA96849363 |
232 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182561091 CA356898418 |
233 | C>* | No |
ClinGen gnomAD |
|
|
CA356898424 rs1577958731 |
234 | T>A | No |
ClinGen Ensembl |
|
|
rs1577958787 CA356898561 |
243 | Y>F | No |
ClinGen Ensembl |
|
|
rs755508624 CA96849386 |
245 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356898620 rs1296485354 |
247 | K>R | No |
ClinGen TOPMed |
|
|
rs1275578060 CA356899230 |
253 | T>N | No |
ClinGen gnomAD |
|
|
CA2923319 COSM261692 rs753318751 |
257 | E>D | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1577963039 CA356899290 |
258 | K>T | No |
ClinGen Ensembl |
|
|
rs1412860211 CA356899400 |
264 | H>Y | No |
ClinGen TOPMed |
|
|
rs1450761446 CA356899434 |
265 | G>A | No |
ClinGen gnomAD |
|
|
CA96852750 rs769498440 |
273 | A>T | No |
ClinGen gnomAD |
|
|
CA2923325 rs757547974 |
277 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325793057 CA356899817 |
278 | S>I | No |
ClinGen gnomAD |
|
|
CA356899835 rs1383896627 |
279 | S>A | No |
ClinGen gnomAD |
|
|
rs775105481 CA96852843 |
287 | V>G | No |
ClinGen Ensembl |
|
|
CA356899973 rs1297145844 |
289 | M>I | No |
ClinGen TOPMed |
|
|
CA356899960 rs1577963205 |
289 | M>V | No |
ClinGen Ensembl |
|
|
rs1322080248 COSM1056096 CA356900016 |
292 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA356900029 rs1271071514 |
293 | N>K | No |
ClinGen gnomAD |
|
|
rs1019104358 CA96852857 |
294 | N>S | No |
ClinGen Ensembl |
|
|
rs1577963277 CA356900051 |
295 | T>A | No |
ClinGen Ensembl |
|
|
rs1295193276 CA356900081 |
297 | G>V | No |
ClinGen TOPMed |
|
|
rs202052259 CA215605 RCV000034511 |
304 | T>A | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs886480885 CA96852934 |
307 | V>A | No |
ClinGen TOPMed |
|
|
CA2923346 rs771970240 |
310 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA356900648 rs1255809965 |
311 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2923347 rs377590954 |
315 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2923348 rs746831586 |
317 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2923350 rs143388949 |
318 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377102206 CA2923352 |
319 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147540142 CA2923353 |
322 | T>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA356900862 rs1278847358 |
325 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356900876 rs148594615 |
326 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2923357 rs767936896 |
333 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1278022899 CA356900963 |
339 | A>T | No |
ClinGen TOPMed |
|
|
rs1446098264 CA356901011 |
345 | H>Q | No |
ClinGen TOPMed |
|
|
rs1577967302 CA356901018 |
346 | Q>H | No |
ClinGen Ensembl |
|
|
CA356901077 rs1469004426 |
354 | T>I | No |
ClinGen gnomAD |
|
|
CA96855434 rs915272994 |
356 | T>A | No |
ClinGen Ensembl |
|
|
rs1577967381 CA356901120 |
360 | E>G | No |
ClinGen Ensembl |
|
|
CA356901167 rs1372684329 |
367 | N>D | No |
ClinGen gnomAD |
|
|
rs1060502552 CA356901170 |
367 | N>S | No |
ClinGen TOPMed |
|
|
rs746884875 CA2923364 |
369 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356901184 rs746884875 |
369 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2923393 rs73137716 |
374 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1459672424 CA356902057 |
377 | L>V | No |
ClinGen gnomAD |
|
|
rs1350941072 CA356902165 |
382 | L>* | No |
ClinGen TOPMed |
|
|
CA356902291 rs1577970160 |
389 | T>P | No |
ClinGen Ensembl |
|
|
rs757234342 CA2923402 |
391 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA356902373 rs1212358569 |
392 | F>L | No |
ClinGen gnomAD |
|
|
CA356902379 rs750332587 |
393 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs72549294 CA215581 RCV000034502 |
400 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1467087033 CA356902605 |
403 | I>M | No |
ClinGen TOPMed |
|
|
rs1161254751 CA356902598 |
403 | I>T | No |
ClinGen gnomAD |
|
|
CA356902737 rs1219033476 |
409 | V>A | No |
ClinGen TOPMed |
|
|
rs111646246 CA96857608 |
410 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213469406 CA356902754 |
410 | N>T | No |
ClinGen TOPMed |
|
|
CA2923411 rs111646246 |
410 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96872699 rs1003828295 |
413 | P>A | No |
ClinGen Ensembl |
|
|
CA160380 RCV000121324 rs587778435 |
414 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1373777028 CA356905386 |
417 | T>S | No |
ClinGen gnomAD |
|
|
CA356905408 rs1368874379 COSM1430124 |
419 | D>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs752354428 CA356905403 |
419 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356905425 rs1160506536 |
420 | R>M | No |
ClinGen TOPMed |
|
|
rs587778434 RCV000121323 |
422 | V>missing | No |
ClinVar dbSNP |
|
|
CA2923445 rs758061831 |
426 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA356905534 rs1306680919 RCV000760668 |
427 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA96872750 rs376889675 |
427 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs962542157 CA96872802 |
431 | A>S | No |
ClinGen Ensembl |
|
|
rs962542157 CA356905598 |
431 | A>T | No |
ClinGen Ensembl |
|
|
rs1577988844 CA356905643 |
433 | F>S | No |
ClinGen Ensembl |
|
|
CA96872860 rs1028162238 |
437 | T>I | No |
ClinGen Ensembl |
|
|
CA356905715 rs1476141776 |
439 | D>G | No |
ClinGen gnomAD |
|
|
rs1577988900 CA356905724 |
440 | W>L | No |
ClinGen Ensembl |
|
|
rs774389709 CA2923455 |
444 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2923456 rs761984908 |
446 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA356905766 rs761984908 |
446 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA356906223 rs1315079882 |
452 | A>S | No |
ClinGen gnomAD |
|
|
CA96874761 rs200783907 |
462 | L>P | No |
ClinGen 1000Genomes |
|
|
rs1577992151 CA356906290 |
463 | N>H | No |
ClinGen Ensembl |
|
|
rs763728676 CA2923481 |
465 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs761442091 CA2923483 |
468 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2923486 rs755572814 |
470 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2923487 rs766943473 |
471 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1577992299 CA356906363 |
475 | Q>L | No |
ClinGen Ensembl |
|
|
rs1577992325 CA356906392 |
479 | D>G | No |
ClinGen Ensembl |
|
|
CA356906397 rs1417993831 |
480 | S>A | No |
ClinGen gnomAD |
|
|
CA96874810 rs1057506392 |
481 | S>I | No |
ClinGen TOPMed |
|
|
rs779134230 CA2923490 |
486 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA356906449 rs1458834829 |
487 | G>V | No |
ClinGen gnomAD |
|
|
CA356906451 rs748451770 |
488 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs748451770 CA2923491 |
488 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs778045049 CA2923493 COSM133784 |
489 | V>I | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA356906482 rs1577992484 |
493 | A>T | No |
ClinGen Ensembl |
|
|
CA2923494 rs371078350 |
493 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2923500 rs200127012 |
500 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1577992594 COSM96885 CA356906700 |
509 | K>I | soft_tissue haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs771735131 CA2923501 |
512 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1354751133 COSM1430136 CA356906739 |
512 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs772813487 CA2923502 |
513 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA356906766 rs1553891472 RCV000513401 |
514 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA356906877 rs1577994279 |
517 | H>Y | No |
ClinGen Ensembl |
|
|
CA356906903 rs1462946038 |
519 | H>R | No |
ClinGen gnomAD |
|
|
CA96875443 rs144610991 |
522 | F>V | No |
ClinGen Ensembl |
|
|
rs1326565450 CA356906947 |
523 | T>A | No |
ClinGen gnomAD |
|
|
rs1297144150 CA356906966 |
524 | P>L | No |
ClinGen gnomAD |
|
|
CA96875453 rs994448695 |
527 | I>M | No |
ClinGen TOPMed |
|
|
rs1448107053 CA356906997 |
527 | I>T | No |
ClinGen TOPMed |
|
|
rs753212327 CA2923529 |
533 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA356907075 rs1560417096 |
534 | G>V | No |
ClinGen Ensembl |
|
|
CA2923531 rs764493206 |
535 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1447737703 CA356907083 |
536 | M>L | No |
ClinGen gnomAD |
|
|
CA2923532 rs751886000 |
537 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA16602219 rs756179543 |
540 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356907339 COSM28026 rs3822214 VAR_042022 |
541 | M>L | stomach [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_061289 COSM1430137 CA96875506 rs3822214 |
541 | M>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA356907361 rs1577994552 |
544 | T>I | No |
ClinGen Ensembl |
|
|
CA356907379 rs55986963 |
546 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777596975 CA2923557 |
552 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1195 rs1577994816 CA356907447 |
554 | E>D | soft_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM1259 rs1057520034 CA16603143 COSM1333 |
560 | V>E | soft_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA356907475 rs1577994961 |
560 | V>I | No |
ClinGen Ensembl |
|
|
CA356907496 rs780708976 |
563 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM30732 rs769483857 CA2923561 |
564 | N>S | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1299476898 CA356907504 COSM1272 |
565 | G>R | soft_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs200945282 RCV000034505 COSM144514 CA215587 |
565 | G>V | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749851557 CA356907527 COSM1278 |
568 | Y>C | soft_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2923562 rs749851557 |
568 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA356907531 rs1464893716 |
569 | V>L | No |
ClinGen gnomAD |
|
|
rs762089641 CA2923565 |
570 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2923564 rs774872724 COSM1430152 |
570 | Y>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1313877141 CA356907576 COSM33966 |
576 | L>F | salivary_gland NS skin breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs773366034 CA2923566 |
579 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1235278829 CA356907597 |
579 | D>V | No |
ClinGen gnomAD |
|
|
rs1437044852 CA356907601 |
580 | H>D | No |
ClinGen TOPMed |
|
|
COSM1567310 rs1577995255 CA356907661 |
587 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1350303460 CA356907731 |
592 | G>R | No |
ClinGen Ensembl |
|
|
rs1276694381 CA356907900 |
599 | A>V | No |
ClinGen TOPMed |
|
|
rs1577995854 CA356908000 |
606 | A>T | No |
ClinGen Ensembl |
|
|
rs1322867456 CA356908095 COSM1540220 |
612 | I>T | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1348209438 CA356908145 |
615 | D>G | No |
ClinGen gnomAD |
|
|
CA356908170 rs1289728551 |
617 | A>V | No |
ClinGen gnomAD |
|
|
rs760939861 CA2923585 |
618 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs111466688 CA96876033 |
618 | M>T | No |
ClinGen Ensembl |
|
|
CA356908182 rs1294929758 |
619 | T>I | No |
ClinGen gnomAD |
|
|
CA2923608 rs761703470 |
630 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA96876097 rs868619950 COSM1651650 |
630 | H>Y | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2923611 rs144369407 |
634 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356908529 rs1331981813 |
638 | M>T | No |
ClinGen gnomAD |
|
|
rs1177837541 CA356908520 |
638 | M>V | No |
ClinGen TOPMed |
|
|
rs1560418381 CA356908574 |
641 | L>I | No |
ClinGen Ensembl |
|
|
COSM96871 rs121913512 CA356908588 |
642 | K>Q | soft_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA356908726 rs1374100918 |
651 | M>R | No |
ClinGen gnomAD |
|
|
rs534209826 CA2923615 |
651 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1473859499 CA356908730 |
652 | N>H | No |
ClinGen TOPMed |
|
|
CA356908732 rs1473859499 |
652 | N>Y | No |
ClinGen TOPMed |
|
|
CA356908796 rs1199902129 |
662 | I>T | No |
ClinGen gnomAD |
|
|
rs1439996385 CA356908792 |
662 | I>V | No |
ClinGen gnomAD |
|
|
rs1237627916 CA356908801 |
663 | G>E | No |
ClinGen gnomAD |
|
|
rs773340705 CA2923630 |
664 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA356909171 rs1282603434 |
668 | V>I | No |
ClinGen TOPMed |
|
|
rs752221484 CA2923636 |
677 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA356909465 rs1462960552 |
683 | R>G | No |
ClinGen gnomAD |
|
|
CA2923639 rs752130583 |
688 | S>T | No |
ClinGen ExAC gnomAD |
|
|
VAR_042023 CA96877040 rs35200131 |
691 | C>S | No |
ClinGen UniProt dbSNP gnomAD |
|
|
CA2923640 COSM96879 rs757733297 |
692 | S>L | soft_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1412301967 CA356909699 |
696 | D>E | No |
ClinGen TOPMed |
|
|
rs763308199 CA356909702 |
697 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356909707 rs1414253704 |
697 | H>P | No |
ClinGen gnomAD |
|
|
rs756394678 CA2923643 |
698 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA356909722 rs780329057 |
698 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs771012963 CA2923649 |
703 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771012963 CA96877071 |
703 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746990067 CA356909773 |
703 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577998119 CA356909819 |
706 | L>F | No |
ClinGen Ensembl |
|
|
rs1460966020 CA356909845 |
708 | H>R | No |
ClinGen TOPMed |
|
|
rs146337870 CA2923651 |
708 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1268795324 CA356909866 |
710 | K>E | No |
ClinGen TOPMed |
|
|
rs374262491 CA356909887 |
711 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2923652 rs374262491 |
711 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2923654 rs775274159 |
713 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775274159 CA2923653 |
713 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577998219 CA356909917 |
714 | C>R | No |
ClinGen Ensembl |
|
|
rs56094246 CA96878017 VAR_042024 |
715 | S>N | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
CA356910075 rs769701248 |
716 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239669396 CA356910099 |
717 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1255211227 CA356910165 |
722 | M>V | No |
ClinGen gnomAD |
|
|
CA356910227 rs1578000466 |
725 | K>N | No |
ClinGen Ensembl |
|
|
CA356910238 rs1200521882 |
726 | P>L | No |
ClinGen gnomAD |
|
|
CA356910233 rs1482194413 |
726 | P>S | No |
ClinGen gnomAD |
|
|
CA2923675 rs773953640 |
729 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1578000525 CA356910757 |
738 | K>R | No |
ClinGen Ensembl |
|
|
CA356910768 rs1380365386 |
740 | R>G | No |
ClinGen TOPMed |
|
|
CA356910771 rs1359607479 |
740 | R>T | No |
ClinGen TOPMed |
|
|
CA2923680 rs761055157 |
741 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1303414810 CA356910780 |
742 | V>M | No |
ClinGen TOPMed |
|
|
CA356910831 rs1317162648 |
748 | I>L | No |
ClinGen gnomAD |
|
|
rs1158253739 CA356910841 |
749 | E>V | No |
ClinGen TOPMed |
|
|
rs758665590 CA2923704 |
752 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA356910863 rs1578001222 |
753 | T>P | No |
ClinGen Ensembl |
|
|
CA356910876 rs201165084 |
755 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1264359120 CA356910888 |
757 | M>T | No |
ClinGen gnomAD |
|
|
rs1448485735 CA356910902 |
759 | D>G | No |
ClinGen TOPMed |
|
|
rs754826149 CA2923710 |
759 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2923712 rs55717477 |
760 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746503007 CA2923714 |
761 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1578001412 CA356911006 |
771 | S>N | No |
ClinGen Ensembl |
|
|
rs1379168487 CA356911106 |
780 | M>T | No |
ClinGen TOPMed |
|
|
rs1216980484 CA356911180 |
787 | N>D | No |
ClinGen gnomAD |
|
|
rs1216980484 CA356911182 |
787 | N>Y | No |
ClinGen gnomAD |
|
|
rs558702741 CA96879665 |
793 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2923767 rs558702741 |
793 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760704637 CA2923768 |
795 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1334674972 CA356911602 |
802 | H>Y | No |
ClinGen gnomAD |
|
|
CA2923773 rs751206924 |
805 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs121913506 CA356911870 COSM1313 |
816 | D>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs993022333 CA96879805 |
822 | N>T | No |
ClinGen TOPMed |
|
|
rs1393694683 CA356912008 |
824 | V>M | No |
ClinGen TOPMed |
|
|
rs868000529 CA96879825 |
826 | K>E | No |
ClinGen Ensembl |
|
|
CA356912054 rs1171241832 |
826 | K>R | No |
ClinGen TOPMed |
|
|
rs1330182390 COSM28588 CA356912879 |
830 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2923787 rs766430859 |
840 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs763847901 CA2923790 |
849 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs763847901 CA356913226 |
849 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA356913211 rs1451277276 |
849 | E>K | No |
ClinGen gnomAD |
|
|
rs780998847 CA2923792 |
852 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1163356623 CA356913369 |
860 | W>S | No |
ClinGen gnomAD |
|
|
rs779706462 CA2923795 |
862 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs886042030 RCV000312421 |
863 | F>* | No |
ClinVar dbSNP |
|
|
rs761684550 CA2923808 |
867 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143074839 CA2923810 |
867 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766036617 CA2923812 |
873 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1404045332 CA356913681 |
873 | M>L | No |
ClinGen gnomAD |
|
|
rs979929723 CA96882466 |
873 | M>T | No |
ClinGen Ensembl |
|
|
CA356913727 rs1368227395 |
875 | V>L | No |
ClinGen TOPMed |
|
|
CA356913858 rs1244026726 |
881 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2923818 rs374440815 |
884 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356913958 rs1237984655 |
888 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA356914012 rs1280110686 |
892 | P>S | No |
ClinGen gnomAD |
|
|
rs774405431 CA96882580 |
895 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356914054 rs1207797666 |
895 | A>V | No |
ClinGen TOPMed |
|
|
CA96882589 rs1037165835 |
896 | P>A | No |
ClinGen Ensembl |
|
|
rs1380483109 CA356914068 |
896 | P>L | No |
ClinGen gnomAD |
|
|
CA2923824 rs761840504 |
898 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs769984428 CA2923841 |
899 | M>I | No |
ClinGen ExAC |
|
|
CA356914173 rs1578008242 |
900 | Y>C | No |
ClinGen Ensembl |
|
|
rs1435319685 CA356914198 |
902 | I>V | No |
ClinGen gnomAD |
|
|
CA2923842 rs779966930 |
903 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1429130851 CA356914262 |
906 | C>S | No |
ClinGen gnomAD |
|
|
rs1041292804 CA96882870 |
908 | D>G | No |
ClinGen Ensembl |
|
|
CA2923845 rs772159767 |
911 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2923847 rs770617877 |
919 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356914507 rs1578008376 |
925 | E>G | No |
ClinGen Ensembl |
|
|
rs1343494916 CA356914528 |
928 | I>V | No |
ClinGen gnomAD |
|
|
CA356914542 rs1578008403 |
929 | S>* | No |
ClinGen Ensembl |
|
|
rs755057764 CA2923850 |
931 | S>Y | No |
ClinGen ExAC |
|
|
CA2923851 rs764847795 |
933 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA356914619 rs762406098 |
934 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356915671 rs1304063923 |
936 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1304063923 CA356915668 |
936 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1379323416 CA356915713 |
938 | N>S | No |
ClinGen gnomAD |
|
|
CA356915838 rs1314381950 |
942 | C>R | No |
ClinGen gnomAD |
|
|
CA96883655 rs149932314 |
942 | C>W | No |
ClinGen Ensembl |
|
|
rs756463331 CA2923877 |
943 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756463331 CA2923876 |
943 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356915907 rs1355431060 |
944 | P>S | No |
ClinGen gnomAD |
|
|
rs754097617 CA2923878 |
945 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779103998 CA2923880 |
946 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1578009883 CA356916139 |
952 | D>N | No |
ClinGen Ensembl |
|
|
rs748938919 CA2923886 |
957 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1334133798 CA356916391 |
961 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA356916387 rs773828910 |
961 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs761339150 CA2923889 |
962 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1350471345 CA356916441 |
963 | T>I | No |
ClinGen gnomAD |
|
|
rs773709702 CA356916430 |
963 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA356916457 rs766845123 |
964 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201185750 CA2923895 |
965 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs765503364 CA356916489 |
966 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2923898 rs758434265 |
967 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA356916531 rs1578010083 |
968 | Q>H | No |
ClinGen Ensembl |
|
|
CA2923900 rs745807112 |
971 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA356916583 rs1268834189 |
972 | V>G | No |
ClinGen gnomAD |
|
|
rs1429838425 CA356916570 COSM1056115 |
972 | V>M | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA356916622 rs72549297 |
974 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
6 associated diseases with P10721
[MIM: 172800]: Piebald trait (PBT)
Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. {ECO:0000269|PubMed:11074500, ECO:0000269|PubMed:1370874, ECO:0000269|PubMed:1376329, ECO:0000269|PubMed:1717985, ECO:0000269|PubMed:7687267, ECO:0000269|PubMed:8680409, ECO:0000269|PubMed:9450866, ECO:0000269|PubMed:9699740}. Note=The disease is caused by variants affecting the gene represented in this entry.
[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:11505412, ECO:0000269|PubMed:15824741, ECO:0000269|PubMed:9438854, ECO:0000269|PubMed:9697690}. Note=The gene represented in this entry is involved in disease pathogenesis.
[MIM: 273300]: Testicular germ cell tumor (TGCT)
A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including
[MIM: 601626]: Leukemia, acute myelogenous (AML)
A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. Note=The gene represented in this entry is involved in disease pathogenesis. Somatic mutations that lead to constitutive activation of KIT are detected in AML patients. These mutations fall into two classes, the most common being in-frame internal tandem duplications of variable length in the juxtamembrane region that disrupt the normal regulation of the kinase activity. Likewise, point mutations in the kinase domain can result in a constitutively activated kinase.
[MIM: 154800]: Mastocytosis, cutaneous (MASTC)
A form of mastocytosis, a heterogeneous group of disorders associated with abnormal proliferation and accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. MASTC is an autosomal dominant form characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed Darier sign. {ECO:0000269|PubMed:15173254, ECO:0000269|PubMed:19865100, ECO:0000269|PubMed:21689725, ECO:0000269|PubMed:24289326, ECO:0000269|PubMed:9990072}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 154800]: Mastocytosis, systemic (MASTSYS)
A severe form of mastocytosis characterized by abnormal proliferation and accumulation of mast cells in several organs, resulting in a systemic disease that may affect bone, gastrointestinal tract, lymphatics, spleen, and liver. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. It can also lead to mast cell leukemia, which carries a high risk of mortality. {ECO:0000269|PubMed:9990072}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. {ECO:0000269|PubMed:11074500, ECO:0000269|PubMed:1370874, ECO:0000269|PubMed:1376329, ECO:0000269|PubMed:1717985, ECO:0000269|PubMed:7687267, ECO:0000269|PubMed:8680409, ECO:0000269|PubMed:9450866, ECO:0000269|PubMed:9699740}. Note=The disease is caused by variants affecting the gene represented in this entry.
- 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:11505412, ECO:0000269|PubMed:15824741, ECO:0000269|PubMed:9438854, ECO:0000269|PubMed:9697690}. Note=The gene represented in this entry is involved in disease pathogenesis.
- A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including
- A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. Note=The gene represented in this entry is involved in disease pathogenesis. Somatic mutations that lead to constitutive activation of KIT are detected in AML patients. These mutations fall into two classes, the most common being in-frame internal tandem duplications of variable length in the juxtamembrane region that disrupt the normal regulation of the kinase activity. Likewise, point mutations in the kinase domain can result in a constitutively activated kinase.
- A form of mastocytosis, a heterogeneous group of disorders associated with abnormal proliferation and accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. MASTC is an autosomal dominant form characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed Darier sign. {ECO:0000269|PubMed:15173254, ECO:0000269|PubMed:19865100, ECO:0000269|PubMed:21689725, ECO:0000269|PubMed:24289326, ECO:0000269|PubMed:9990072}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A severe form of mastocytosis characterized by abnormal proliferation and accumulation of mast cells in several organs, resulting in a systemic disease that may affect bone, gastrointestinal tract, lymphatics, spleen, and liver. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. It can also lead to mast cell leukemia, which carries a high risk of mortality. {ECO:0000269|PubMed:9990072}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for P10721
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.1 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR24416 | TYROSINE-PROTEIN KINASE RECEPTOR |
| PANTHER Subfamily | PTHR24416:SF46 | MAST_STEM CELL GROWTH FACTOR RECEPTOR KIT |
| PANTHER Protein Class | transmembrane signal receptor | |
| PANTHER Pathway Category | No pathway information available | |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| acrosomal vesicle | A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome. |
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| cytoplasmic side of plasma membrane | The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| 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. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| fibrillar center | A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| receptor complex | Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| cytokine binding | Binding to a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity. |
| metal ion binding | Binding to a metal ion. |
| protease binding | Binding to a protease or a peptidase. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| 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 tyrosine kinase activity | Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
| SH2 domain binding | Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class. |
| stem cell factor receptor activity | Combining with stem cell factor (SCF) receptor ligand 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. Stem cell factor is a cytokine that stimulates mast cell growth and differentiation. |
| 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. |
73 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton reorganization | A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of constituent parts of cytoskeletal structures comprising actin filaments and their associated proteins. |
| B cell differentiation | The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. |
| 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 thyroid hormone stimulus | A change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a thyroid hormone stimulus. |
| cytokine-mediated signaling pathway | The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| detection of mechanical stimulus involved in sensory perception of sound | The series of events involved in the perception of sound vibration in which the vibration is received and converted into a molecular signal. |
| digestive tract development | The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed. |
| ectopic germ cell programmed cell death | Programmed cell death of an errant germ line cell that is outside the normal migratory path or ectopic to the gonad. This is an important mechanism of regulating germ cell survival within the embryo. |
| embryonic hemopoiesis | The stages of blood cell formation that take place within the embryo. |
| epithelial cell proliferation | The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. |
| erythrocyte differentiation | The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. |
| erythropoietin-mediated signaling pathway | The series of molecular signals initiated by erythropoietin (EPO) binding to the erythropoietin receptor (EPO-R) on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| Fc receptor signaling pathway | The series of molecular signals initiated by the binding of the Fc portion of an immunoglobulin to an Fc receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. The Fc portion of an immunoglobulin is its C-terminal constant region. |
| germ cell migration | The orderly movement of a cell specialized to produce haploid gametes through the embryo from its site of production to the place where the gonads will form. |
| glycosphingolipid metabolic process | The chemical reactions and pathways involving glycosphingolipids, any compound with residues of sphingoid and at least one monosaccharide. |
| 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. |
| hematopoietic stem cell migration | The orderly movement of a hematopoietic stem cell from one site to another. A hematopoietic stem cell is a cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. |
| hemopoiesis | The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. |
| immature B cell differentiation | The process in which a precursor cell type acquires the specialized features of an immature B cell. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| Kit signaling pathway | The series of molecular signals initiated by the binding of stem cell factor to the tyrosine kinase receptor KIT on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. Stem cell factor (KIT ligand) binding to the receptor Kit mediates receptor dimerization, activation of its intrinsic tyrosine kinase activity and autophosphorylation. The activated receptor then phosphorylates various substrates, thereby activating distinct signaling cascades within the cell that trigger a change in state or activity of the cell. |
| lamellipodium assembly | Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell. |
| lymphoid progenitor cell differentiation | The process in which a precursor cell type acquires the specialized features of a lymphoid progenitor cell. Lymphoid progenitor cells include progenitor cells for any of the lymphoid lineages. |
| male gonad development | The process whose specific outcome is the progression of the male gonad over time, from its formation to the mature structure. |
| mast cell chemotaxis | The movement of a mast cell in response to an external stimulus. |
| mast cell degranulation | The regulated exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell. |
| mast cell differentiation | The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. |
| mast cell proliferation | The expansion of a mast cell population by cell division. |
| megakaryocyte development | The process whose specific outcome is the progression of a megakaryocyte cell over time, from its formation to the mature structure. Megakaryocyte development does not include the steps involved in committing a cell to a megakaryocyte fate. A megakaryocyte is a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow. |
| melanocyte adhesion | The attachment of a melanocyte to another cell via adhesion molecules. |
| melanocyte differentiation | The process in which a relatively unspecialized cell acquires specialized features of a melanocyte. |
| melanocyte migration | The orderly movement of melanocytes from one site to another, often during the development of a multicellular organism. A melanocyte is a pigment cell derived from the neural crest. It contains melanin-filled pigment granules, which give a brown to black appearance. |
| myeloid progenitor cell differentiation | The process in which a precursor cell type acquires the specialized features of a myeloid progenitor cell. Myeloid progenitor cells include progenitor cells for any of the myeloid lineages. |
| negative regulation of programmed cell death | Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. |
| ovarian follicle development | The process whose specific outcome is the progression of the ovarian follicle over time, from its formation to the mature structure. |
| pigmentation | The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. |
| 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 colon smooth muscle contraction | Any process that activates or increases the frequency, rate or extent of colon smooth muscle contraction. |
| positive regulation of dendritic cell cytokine production | Any process that activates or increases the frequency, rate, or extent of dendritic cell cytokine production. |
| positive regulation of DNA-binding transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| 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 long-term neuronal synaptic plasticity | A process that increases long-term neuronal synaptic plasticity, the ability of neuronal synapses to change long-term as circumstances require. Long-term neuronal synaptic plasticity generally involves increase or decrease in actual synapse numbers. |
| positive regulation of MAP kinase activity | Any process that activates or increases the frequency, rate or extent of MAP kinase activity. |
| positive regulation of MAPK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade. |
| positive regulation of mast cell cytokine production | Any process that activates or increases the frequency, rate, or extent of mast cell cytokine production. |
| positive regulation of Notch signaling pathway | Any process that activates or increases the frequency, rate or extent of the Notch signaling pathway. |
| 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. |
| positive regulation of pseudopodium assembly | Any process that activates or increases the frequency, rate or extent of the assembly of pseudopodia. |
| positive regulation of pyloric antrum smooth muscle contraction | Any process that increases the frequency, rate or extent of any pyloric antrum smooth muscle contraction. |
| positive regulation of receptor signaling pathway via JAK-STAT | Any process that activates or increases the frequency, rate or extent of the JAK-STAT signaling pathway activity. |
| positive regulation of small intestine smooth muscle contraction | Any process that activates or increases the frequency, rate or extent of small intestine smooth muscle contraction. |
| positive regulation of tyrosine phosphorylation of STAT protein | Any process that activates or increases the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a STAT (Signal Transducer and Activator of Transcription) protein. |
| positive regulation of vascular associated smooth muscle cell differentiation | Any process that activates or increases the frequency, rate or extent of vascular smooth muscle cell differentiation. |
| 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 bile acid metabolic process | Any process that modulates the frequency, rate or extent of bile acid metabolic process. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| regulation of cell shape | Any process that modulates the surface configuration of a cell. |
| response to cadmium ion | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cadmium (Cd) ion stimulus. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| somatic stem cell division | The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. |
| somatic stem cell population maintenance | Any process by which an organism retains a population of somatic stem cells, undifferentiated cells in the embryo or adult which can undergo unlimited division and give rise to cell types of the body other than those of the germ-line. |
| spermatid development | The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
| stem cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a stem cell. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. |
| stem cell population maintenance | The process by which an organism or tissue maintains a population of stem cells of a single type. This can be achieved by a number of mechanisms: stem cell asymmetric division maintains stem cell numbers; stem cell symmetric division increases them; maintenance of a stem cell niche maintains the conditions for commitment to the stem cell fate for some types of stem cell; stem cells may arise de novo from other cell types. |
| T cell differentiation | The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. |
| tongue development | The process whose specific outcome is the progression of the tongue over time, from its formation to the mature structure. The tongue is the movable, muscular organ on the floor of the mouth of most vertebrates, in many other mammals is the principal organ of taste, aids in the prehension of food, in swallowing, and in modifying the voice as in speech. |
| 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. |
| visual learning | Any process in an organism in which a change in behavior of an individual occurs in response to repeated exposure to a visual cue. |
100 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q06805 | TIE1 | Tyrosine-protein kinase receptor Tie-1 | Bos taurus (Bovine) | PR |
| Q06807 | TEK | Angiopoietin-1 receptor | Bos taurus (Bovine) | SS |
| P43481 | KIT | Mast/stem cell growth factor receptor Kit | Bos taurus (Bovine) | SS |
| P13369 | CSF1R | Macrophage colony-stimulating factor 1 receptor | Felis catus (Cat) (Felis silvestris catus) | SS |
| Q28889 | KIT | Mast/stem cell growth factor receptor Kit | 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 |
| Q9PUF6 | PDGFRA | Platelet-derived growth factor receptor alpha | 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 |
| Q08156 | KIT | Mast/stem cell growth factor receptor Kit | Gallus gallus (Chicken) | SS |
| O97799 | KIT | Mast/stem cell growth factor receptor Kit | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| 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 |
| P09619 | PDGFRB | Platelet-derived growth factor receptor beta | Homo sapiens (Human) | EV |
| P07333 | CSF1R | Macrophage colony-stimulating factor 1 receptor | Homo sapiens (Human) | SS |
| P16234 | PDGFRA | Platelet-derived growth factor receptor alpha | Homo sapiens (Human) | EV |
| P36888 | FLT3 | Receptor-type tyrosine-protein kinase FLT3 | Homo sapiens (Human) | EV |
| Q03142 | Fgfr4 | Fibroblast growth factor receptor 4 | 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 |
| P05532 | Kit | Mast/stem cell growth factor receptor Kit | Mus musculus (Mouse) | PR |
| 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 |
| P20786 | Pdgfra | Platelet-derived growth factor receptor alpha | Rattus norvegicus (Rat) | SS |
| 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 |
| 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 |
| Q9DE49 | pdgfra | Platelet-derived growth factor receptor alpha | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q5MD89 | flt4 | Vascular endothelial growth factor receptor 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q8JFR5 | kita | Mast/stem cell growth factor receptor kita | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRGARGAWDF | LCVLLLLLRV | QTGSSQPSVS | PGEPSPPSIH | PGKSDLIVRV | GDEIRLLCTD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PGFVKWTFEI | LDETNENKQN | EWITEKAEAT | NTGKYTCTNK | HGLSNSIYVF | VRDPAKLFLV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DRSLYGKEDN | DTLVRCPLTD | PEVTNYSLKG | CQGKPLPKDL | RFIPDPKAGI | MIKSVKRAYH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RLCLHCSVDQ | EGKSVLSEKF | ILKVRPAFKA | VPVVSVSKAS | YLLREGEEFT | VTCTIKDVSS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SVYSTWKREN | SQTKLQEKYN | SWHHGDFNYE | RQATLTISSA | RVNDSGVFMC | YANNTFGSAN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VTTTLEVVDK | GFINIFPMIN | TTVFVNDGEN | VDLIVEYEAF | PKPEHQQWIY | MNRTFTDKWE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DYPKSENESN | IRYVSELHLT | RLKGTEGGTY | TFLVSNSDVN | AAIAFNVYVN | TKPEILTYDR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LVNGMLQCVA | AGFPEPTIDW | YFCPGTEQRC | SASVLPVDVQ | TLNSSGPPFG | KLVVQSSIDS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SAFKHNGTVE | CKAYNDVGKT | SAYFNFAFKG | NNKEQIHPHT | LFTPLLIGFV | IVAGMMCIIV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MILTYKYLQK | PMYEVQWKVV | EEINGNNYVY | IDPTQLPYDH | KWEFPRNRLS | FGKTLGAGAF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GKVVEATAYG | LIKSDAAMTV | AVKMLKPSAH | LTEREALMSE | LKVLSYLGNH | MNIVNLLGAC |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TIGGPTLVIT | EYCCYGDLLN | FLRRKRDSFI | CSKQEDHAEA | ALYKNLLHSK | ESSCSDSTNE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YMDMKPGVSY | VVPTKADKRR | SVRIGSYIER | DVTPAIMEDD | ELALDLEDLL | SFSYQVAKGM |
| 790 | 800 | 810 | 820 | 830 | 840 |
| AFLASKNCIH | RDLAARNILL | THGRITKICD | FGLARDIKND | SNYVVKGNAR | LPVKWMAPES |
| 850 | 860 | 870 | 880 | 890 | 900 |
| IFNCVYTFES | DVWSYGIFLW | ELFSLGSSPY | PGMPVDSKFY | KMIKEGFRML | SPEHAPAEMY |
| 910 | 920 | 930 | 940 | 950 | 960 |
| DIMKTCWDAD | PLKRPTFKQI | VQLIEKQISE | STNHIYSNLA | NCSPNRQKPV | VDHSVRINSV |
| 970 | |||||
| GSTASSSQPL | LVHDDV |