Q15833
PR
Gene name |
STXBP2 (UNC18B) |
Protein name |
Syntaxin-binding protein 2 |
Names |
Protein unc-18 homolog 2, Unc18-2, Protein unc-18 homolog B, Unc-18B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6813 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q15833
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4CCA | X-ray | 260 A | A | 1-593 | PDB |
| AF-Q15833-F1 | Predicted | AlphaFoldDB |
555 variants for Q15833
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA403155091 rs1599386139 RCV000795017 |
2 | A>V | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000312580 rs886054700 CA10649283 |
5 | G>E | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001566927 RCV000251651 RCV000647335 CA9143108 rs146165014 RCV002262899 |
17 | G>R | Familial hemophagocytic lymphohistiocytosis 5 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1003332 RCV001308030 rs200306463 CA9143136 |
39 | R>H | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000684854 rs1568463402 |
45 | C>missing | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA403155393 rs1358641526 RCV001299162 |
46 | K>R | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs886054701 RCV000272735 CA10649286 |
49 | D>H | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000647327 rs138007892 CA9143142 |
56 | T>I | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001215637 rs2031710370 |
60 | D>N | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001221186 rs1217060412 |
63 | K>missing | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340491 COSM1003333 CA9143164 rs764937841 |
64 | R>W | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002509538 rs141717050 CA9143167 RCV000793904 |
65 | R>Q | Familial hemophagocytic lymphohistiocytosis Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555769166 RCV000647331 |
71 | L>missing | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001267797 rs2031713036 |
74 | I>F | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000008312 rs1599395085 |
87 | L>missing | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001038282 rs779265777 CA9143556 |
92 | Q>L | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA403157476 rs1246771714 RCV001351298 |
97 | F>L | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs140745219 RCV000647329 RCV000386108 CA9143601 |
120 | R>C | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001319148 rs371725400 CA9143605 |
122 | R>C | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000647332 RCV001756079 RCV002263901 CA9143607 rs144914451 RCV002271545 |
122 | R>H | Familial hemophagocytic lymphohistiocytosis 5 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs930347206 RCV002274091 RCV002307603 CA304906363 RCV000703150 |
130 | L>S | Familial hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA9143613 rs766694710 RCV000806556 |
135 | L>F | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1185698344 RCV001314200 CA403157747 |
138 | L>H | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1599397070 RCV001550989 RCV000820443 |
158 | C>missing | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001306619 rs747969201 RCV002543170 CA9143671 |
165 | R>H | Familial hemophagocytic lymphohistiocytosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs181216956 CA9143673 RCV000960504 RCV000502479 |
166 | T>M | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs949311854 RCV001053829 CA304906940 |
167 | R>P | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs768296460 RCV001270552 CA9143674 RCV001048716 |
167 | R>W | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001059678 CA9143675 rs369683019 |
168 | Q>R | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA304906950 RCV001248395 rs905210837 |
172 | L>V | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001243664 rs762234445 CA9143680 |
178 | T>M | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9143686 RCV000658815 RCV000477888 rs370053399 |
190 | R>C | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001035378 CA403158495 rs1200494574 |
190 | R>H | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs113860815 CA304907002 RCV001796249 RCV000816445 |
192 | R>H | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1227945 rs370172171 RCV000791945 CA9143719 |
193 | K>N | Familial hemophagocytic lymphohistiocytosis 5 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9143727 rs188212047 RCV001129152 |
201 | L>F | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2031907358 RCV001330339 |
203 | H>missing | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001056448 CA9143729 rs373450263 |
204 | A>T | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002263592 RCV000514754 CA9143732 rs144586070 RCV001083601 |
205 | V>I | Familial hemophagocytic lymphohistiocytosis 5 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs121918541 RCV000008311 VAR_063814 CA254263 |
209 | L>P | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE FHL5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA9143737 rs774890011 RCV001059621 |
211 | A>T | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2031909131 RCV001342162 |
212 | F>S | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001047923 CA403158662 rs1249890410 |
217 | P>S | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1414767497 CA403158680 RCV001230917 |
220 | G>S | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002289961 CA9143744 rs201649843 RCV000688038 RCV002544795 |
221 | E>K | Familial hemophagocytic lymphohistiocytosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs372973081 RCV001131833 CA304907343 |
227 | R>C | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9143768 RCV000647325 rs200855062 |
227 | R>H | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1599398298 RCV000008309 |
232 | I>missing | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_063815 | 232 | I>del | FHL5; leads to a complete loss of the ability to interact with STX11 [UniProt] | Yes | UniProt |
|
RCV001045485 CA9143772 rs373830051 |
233 | M>T | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs2031917623 RCV001213588 |
234 | D>E | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002264259 CA9143774 RCV001298110 rs757488006 |
235 | R>Q | Familial hemophagocytic lymphohistiocytosis 5 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9143779 RCV000727992 RCV001063092 rs747513823 |
248 | T>M | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2031920971 RCV001064101 |
257 | L>missing | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000807494 CA9143785 rs764336756 |
259 | I>T | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1279733096 RCV001321265 |
260 | E>K | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9143786 RCV000705154 RCV002533730 rs749059785 |
262 | D>N | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10652334 COSM3404781 rs187320742 RCV000320628 |
270 | G>R | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 central_nervous_system [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9143809 RCV001045271 rs765370350 |
273 | E>K | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs199971069 RCV000892019 CA9143810 |
274 | A>S | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs763174109 CA9143811 RCV001342005 |
274 | A>V | Variant assessed as Somatic; 4.66e-05 impact. Familial hemophagocytic lymphohistiocytosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000810052 CA304907461 rs149111957 |
275 | R>Q | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000802820 rs753242709 CA9143816 RCV002534723 |
279 | V>I | Familial hemophagocytic lymphohistiocytosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs778489407 CA9143821 RCV001229245 |
283 | E>K | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA403159813 rs1353855735 RCV001039958 |
290 | E>G | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA9143827 rs746897867 VAR_063816 COSM1397645 |
292 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine FHL5; leads to a complete loss of the ability to interact with STX11 [NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
CA9143872 RCV001270558 rs200135215 RCV001132828 |
304 | T>M | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs370890802 RCV000927651 RCV001821004 RCV000281145 CA9143875 |
305 | E>G | Familial hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000809710 CA9143880 rs775739579 |
313 | S>N | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs2031948474 RCV001234876 |
313 | S>R | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003222169 CA9143883 RCV000904295 rs201293382 RCV002264074 |
318 | T>M | Familial hemophagocytic lymphohistiocytosis 5 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9143915 rs753737127 RCV001314971 |
321 | A>V | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001056642 rs747031778 CA9143922 RCV001553694 |
334 | P>L | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001529463 RCV000174565 rs117761837 RCV002262767 RCV000533997 CA201060 |
345 | T>M | Familial hemophagocytic lymphohistiocytosis 5 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001345553 rs2031967645 |
355 | K>M | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs764476944 RCV001345538 CA9143957 |
356 | H>R | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001242538 rs755758613 CA9144005 |
378 | E>D | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001231046 rs778792433 CA9144008 |
379 | G>E | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA403161040 rs757979426 RCV001217896 |
379 | G>W | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001064356 rs535236814 |
386 | M>L | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000809350 CA403161118 rs1599403453 |
390 | V>A | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs751931943 RCV001303787 CA9144017 RCV002539533 |
395 | D>G | Familial hemophagocytic lymphohistiocytosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1568469885 RCV000714835 |
399 | P>GP | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs114628602 CA9144027 RCV001064143 |
402 | D>N | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs748212253 CA9144029 RCV001351962 |
404 | I>V | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9144031 RCV000647328 rs773360200 VAR_063817 |
405 | R>Q | Familial hemophagocytic lymphohistiocytosis 5 FHL5; leads to a complete loss of the ability to interact with STX11 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
VAR_063818 rs769717341 CA9144030 |
405 | R>W | Variant assessed as Somatic; 0.0 impact. FHL5; leads to a complete loss of the ability to interact with STX11 [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
CA9144038 RCV000792809 rs202199284 |
414 | R>Q | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9144036 rs113305305 RCV001299007 |
414 | R>W | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9144083 rs150072458 RCV001066213 |
423 | A>D | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000734387 RCV000647324 CA9144085 rs199924392 |
429 | A>V | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000174911 RCV002262768 CA201217 rs141309384 RCV000552531 |
433 | A>V | Familial hemophagocytic lymphohistiocytosis 5 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1415837581 CA403161429 RCV001304590 |
439 | R>H | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2032088247 RCV001071948 |
446 | G>K | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000730684 rs148777693 CA9144094 RCV000804242 |
452 | G>R | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000528618 rs755227395 CA9144130 |
454 | S>L | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9144131 rs767692438 RCV001048962 |
457 | S>C | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000807776 rs201164454 CA9144134 RCV002537269 |
459 | R>Q | Familial hemophagocytic lymphohistiocytosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9144133 rs142105943 RCV001821006 RCV000406902 RCV002263595 |
459 | R>W | Familial hemophagocytic lymphohistiocytosis 5 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1003338 CA9144138 rs542557411 RCV000647330 |
465 | R>C | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs771732155 RCV001859635 RCV000261697 CA10605319 |
465 | R>H | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9144140 rs146685108 RCV000687268 |
466 | M>L | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs759586229 CA9144147 RCV000647323 |
474 | R>C | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA254261 RCV000008308 VAR_063819 rs121918540 |
477 | P>L | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 FHL5; leads to a complete loss of the ability to interact with STX11 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001348686 rs1279177809 CA403161733 |
485 | D>N | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs199839827 RCV001131959 CA9144193 |
486 | A>T | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000704407 rs150174842 CA10652337 |
487 | V>L | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002264054 RCV000892632 rs150174842 CA9144195 |
487 | V>M | Familial hemophagocytic lymphohistiocytosis 5 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9144199 rs189009033 RCV001339991 |
490 | R>Q | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs754527648 COSM713895 RCV001326193 CA403161763 |
490 | R>W | lung Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA403161791 rs1197928359 RCV000814501 |
494 | N>T | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001507405 RCV001037139 rs377248327 CA9144206 |
499 | V>I | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001507406 rs1568471865 CA403161832 RCV001131960 |
501 | D>A | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001347930 rs375024471 CA9144212 COSM1266996 |
505 | T>M | oesophagus Familial hemophagocytic lymphohistiocytosis 5 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP |
|
CA9144211 RCV000795560 rs375024471 |
505 | T>R | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs6791 CA9144261 RCV000603628 RCV001824714 RCV000250426 RCV000308412 VAR_014934 |
526 | I>V | Familial hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000529971 RCV000363044 RCV002263597 rs35490401 CA9144266 RCV001753791 RCV001270501 RCV001821007 |
529 | R>P | Familial hemophagocytic lymphohistiocytosis Familial hemophagocytic lymphohistiocytosis 5 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs35490401 RCV002538187 RCV001507407 RCV000814223 CA9144265 |
529 | R>Q | Familial hemophagocytic lymphohistiocytosis 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001046235 rs766121039 CA9144263 |
529 | R>W | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000823700 rs147455069 CA9144274 |
533 | R>Q | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001222794 CA9144273 RCV001507408 rs747482928 |
533 | R>W | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA9144277 RCV001295022 rs374719886 |
536 | V>M | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs1205069718 CA403162059 RCV000647326 |
537 | Y>C | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs886054705 CA10643464 RCV000268499 |
539 | M>T | Variant assessed as Somatic; 0.0 impact. Familial hemophagocytic lymphohistiocytosis 5 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA403162082 rs61736587 RCV001244298 |
541 | G>C | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000519780 rs61736587 RCV000024317 RCV002262571 CA260033 |
541 | G>S | Familial hemophagocytic lymphohistiocytosis 5 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000685090 CA9144281 rs759514227 |
550 | A>T | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003221887 rs61736586 RCV000553193 CA9144285 RCV002262897 RCV000250735 |
555 | R>G | Familial hemophagocytic lymphohistiocytosis 5 Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM475480 RCV000685168 rs758554274 CA9144287 |
558 | E>K | kidney Familial hemophagocytic lymphohistiocytosis 5 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001317476 rs758554274 CA304912780 |
558 | E>Q | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001345778 CA9144290 rs202167383 |
561 | W>R | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs768637937 RCV002264153 CA9144321 RCV001045702 COSM4138273 |
573 | P>L | pancreas Familial hemophagocytic lymphohistiocytosis 5 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9144324 RCV000320237 rs201481880 |
575 | R>C | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA403162338 rs201481880 RCV001314970 |
575 | R>G | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9144326 rs751679761 RCV001302957 |
575 | R>L | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs955110475 RCV001048365 CA304913063 |
581 | K>R | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs150701487 CA9144335 RCV001050071 |
591 | A>D | Familial hemophagocytic lymphohistiocytosis 5 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9143094 rs578106118 |
3 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1015212727 CA304902724 |
3 | P>S | No |
ClinGen Ensembl |
|
|
rs1367435143 CA403155101 |
4 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 6 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277124655 CA403155123 |
8 | A>G | No |
ClinGen Ensembl |
|
|
rs1013949732 CA304902728 |
8 | A>S | No |
ClinGen Ensembl |
|
|
CA403155140 rs1203299418 |
11 | G>E | No |
ClinGen TOPMed |
|
|
CA403155138 rs1287229332 |
11 | G>W | No |
ClinGen gnomAD |
|
|
rs77234880 CA304902738 |
12 | E>G | No |
ClinGen gnomAD |
|
|
rs771935841 CA9143109 |
19 | I>V | No |
ClinGen ExAC |
|
|
CA9143110 rs776723772 |
20 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304903264 COSM475479 rs1030575812 |
20 | R>W | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA9143111 rs761811734 |
21 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs575143221 CA9143112 |
22 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773489322 CA9143113 |
23 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1401766158 CA403155225 |
23 | K>R | No |
ClinGen gnomAD |
|
|
rs763288117 CA9143114 |
24 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs766776892 CA9143115 |
26 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA304903272 rs796488505 |
27 | E>Q | No |
ClinGen TOPMed |
|
|
CA403155290 rs1219482876 |
31 | L>F | No |
ClinGen gnomAD |
|
|
CA9143132 rs769918010 |
33 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9143134 rs763199081 |
36 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9143133 rs773397741 |
36 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1599389456 CA403155334 |
37 | S>T | No |
ClinGen Ensembl |
|
|
CA9143135 rs766615553 |
38 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs199579207 CA304903337 |
39 | R>C | No |
ClinGen TOPMed |
|
|
CA403155373 rs1384429166 |
43 | S>F | No |
ClinGen gnomAD |
|
|
CA9143139 rs753205026 |
44 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA9143138 rs768068263 |
44 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA403155444 rs1452154881 |
53 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1346538599 CA403155494 |
59 | E>V | No |
ClinGen gnomAD |
|
|
CA9143162 rs368283130 |
62 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9143163 rs540968221 |
62 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403155526 rs764937841 |
64 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9143165 rs750099959 |
64 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758188545 CA9143166 |
65 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs758188545 CA403155529 |
65 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1599390395 CA403155536 |
66 | E>G | No |
ClinGen Ensembl |
|
|
CA403155543 rs1599390408 |
67 | P>H | No |
ClinGen Ensembl |
|
| TCGA novel | 68 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477088810 CA403155547 |
68 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9143169 rs532380776 |
69 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781116703 CA9143170 |
70 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781116703 CA403155558 |
70 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050758306 CA304903520 |
78 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs889515185 CA304903523 |
79 | P>S | No |
ClinGen Ensembl |
|
|
rs942482544 CA304903524 |
80 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs779176001 CA403155631 |
81 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1332255732 CA403155629 |
81 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9143173 rs779176001 |
81 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA9143174 rs746119396 |
82 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs768490233 CA304906108 |
83 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs768490233 CA9143553 |
83 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs992368305 CA403157397 |
85 | Q>* | No |
ClinGen gnomAD |
|
|
rs992368305 CA304906115 |
85 | Q>E | No |
ClinGen gnomAD |
|
|
CA304906128 rs757357845 CA9143555 |
91 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749402040 CA9143554 |
91 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 91 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568466023 CA403157450 |
92 | Q>H | No |
ClinGen Ensembl |
|
|
rs746225713 CA9143557 |
93 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1428524496 CA403157451 |
93 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746225713 CA9143558 |
93 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1599395150 CA403157458 |
94 | T>N | No |
ClinGen Ensembl |
|
|
rs1048656929 CA304906149 |
95 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9143561 rs769231108 |
95 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139280621 CA9143563 |
96 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9143565 rs535808030 |
99 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403157485 rs1354459778 |
99 | Y>H | No |
ClinGen gnomAD |
|
|
CA403157503 rs1266495988 |
101 | A>V | No |
ClinGen TOPMed |
|
|
rs1321200154 CA403157515 |
103 | H>R | No |
ClinGen gnomAD |
|
|
CA9143569 rs754858813 |
105 | F>L | No |
ClinGen ExAC gnomAD |
|
|
COSM176967 rs767497356 CA9143570 |
108 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA403157548 rs767497356 |
108 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9143592 rs201628151 |
109 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9143593 rs765320856 |
111 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA403157586 rs368824770 |
112 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9143597 rs751965889 CA403157590 |
112 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9143596 rs368824770 |
112 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781527730 CA9143599 |
113 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs755427645 CA9143598 |
113 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1199356702 CA403157607 |
115 | F>L | No |
ClinGen gnomAD |
|
|
CA9143600 rs748725868 |
118 | L>P | No |
ClinGen ExAC |
|
|
CA403157629 rs1250649701 |
119 | G>R | No |
ClinGen gnomAD |
|
|
rs777213175 CA9143602 |
120 | R>H | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9143606 rs371725400 |
122 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9143608 rs775179959 |
125 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA403157672 rs764141843 |
127 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9143610 rs764141843 |
127 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304906367 rs868701249 |
134 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1225714515 CA403157736 |
136 | A>V | No |
ClinGen gnomAD |
|
|
rs781575797 CA9143616 |
138 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781575797 CA403157745 |
138 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs992315991 CA304906409 |
139 | P>L | No |
ClinGen Ensembl |
|
|
CA304906405 rs960806186 |
139 | P>S | No |
ClinGen Ensembl |
|
|
rs1202493559 CA403157758 |
140 | Y>C | No |
ClinGen gnomAD |
|
|
rs1483752718 CA403157756 |
140 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147948442 CA9143620 COSM343524 |
141 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1265029423 CA403157770 |
142 | A>S | No |
ClinGen gnomAD |
|
|
rs1230663254 CA403158218 |
146 | S>F | No |
ClinGen gnomAD |
|
|
rs1352374193 CA403158228 |
148 | D>G | No |
ClinGen gnomAD |
|
|
rs748998296 CA403158225 |
148 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA304906886 rs748998296 |
148 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403158234 rs1264193629 |
149 | A>T | No |
ClinGen TOPMed |
|
|
rs1223513176 CA403158240 |
150 | P>S | No |
ClinGen gnomAD |
|
|
CA9143665 rs757901890 |
152 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403158263 rs1198667124 |
153 | T>N | No |
ClinGen gnomAD |
|
|
rs1599397007 CA403158259 |
153 | T>P | No |
ClinGen Ensembl |
|
|
rs1360171674 CA403158269 |
154 | Y>C | No |
ClinGen TOPMed |
|
|
CA403158283 rs1269776643 |
156 | L>F | No |
ClinGen TOPMed |
|
|
CA9143666 rs779731433 |
157 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403369773 CA403158306 |
159 | P>H | No |
ClinGen gnomAD |
|
|
CA403158304 rs1392510715 |
159 | P>S | No |
ClinGen gnomAD |
|
|
rs1365793463 CA403158320 |
161 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403158319 rs1365793463 |
161 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403158318 rs1274431087 |
161 | R>W | No |
ClinGen gnomAD |
|
|
rs1295427888 CA403158327 |
162 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 163 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403158336 rs1221287791 |
164 | E>K | No |
ClinGen gnomAD |
|
|
CA403158344 rs1364548535 |
165 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304906934 rs949311854 |
167 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1207394214 CA403158356 |
168 | Q>K | No |
ClinGen gnomAD |
|
|
rs1197740570 CA403158365 |
169 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 170 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9143677 rs760837844 |
170 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162386556 CA403158391 |
173 | A>V | No |
ClinGen gnomAD |
|
|
CA403158393 rs1389127878 |
174 | Q>* | No |
ClinGen gnomAD |
|
|
CA9143678 rs768883437 |
176 | I>V | No |
ClinGen ExAC |
|
|
CA9143679 rs776918586 |
177 | A>V | No |
ClinGen ExAC |
|
|
CA403158435 rs142899327 |
180 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1396653486 CA403158434 |
180 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1338883281 CA403158437 |
181 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs976217507 CA304906974 |
184 | Q>H | No |
ClinGen TOPMed |
|
|
CA403158458 rs1244361477 |
184 | Q>R | No |
ClinGen gnomAD |
|
|
rs1289312790 CA403158462 |
185 | E>K | No |
ClinGen gnomAD |
|
|
rs765763103 CA9143684 |
187 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762491152 CA9143683 |
187 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs866380551 CA304906992 |
188 | A>T | No |
ClinGen Ensembl |
|
|
CA304906997 rs571713524 |
192 | R>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9143687 rs113860815 |
192 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403158506 rs571713524 |
192 | R>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs752534004 CA9143688 |
193 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA304907012 rs866852749 |
193 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 194 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9143720 rs775053778 |
194 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs759087622 CA9143721 |
195 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs767096595 CA9143722 |
196 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9143723 rs775163878 |
197 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403158553 rs1189245533 |
198 | T>I | No |
ClinGen gnomAD |
|
|
CA9143724 rs760187284 |
198 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403158558 rs1392120527 |
199 | A>V | No |
ClinGen gnomAD |
|
|
CA9143725 rs763816146 |
200 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs756223029 CA9143734 |
206 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304907233 rs1005869537 |
207 | A>V | No |
ClinGen Ensembl |
|
|
CA304907242 rs1015967474 |
208 | K>Q | No |
ClinGen gnomAD |
|
|
rs121918541 CA9143735 |
209 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304907247 rs937757651 |
212 | F>I | No |
ClinGen TOPMed |
|
|
CA9143738 rs746329841 |
214 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772720500 CA9143739 |
216 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9143740 rs776842309 |
216 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA403158666 rs1243481529 |
217 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1243481529 CA403158665 |
217 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9143741 rs760304466 |
219 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA403158682 rs1425816273 |
220 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA304907327 rs922726126 |
222 | G>S | No |
ClinGen Ensembl |
|
|
CA403158718 rs1459457324 |
224 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA403158727 rs1449667133 |
225 | K>I | No |
ClinGen gnomAD |
|
|
COSM326593 CA9143769 rs200855062 |
227 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs372973081 CA9143767 |
227 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290021743 CA403158742 |
228 | S>F | No |
ClinGen gnomAD |
|
|
rs1050373111 CA304907362 |
229 | Q>H | No |
ClinGen Ensembl |
|
|
rs1599398287 CA403158756 |
230 | L>R | No |
ClinGen Ensembl |
|
|
rs760638875 CA9143771 |
232 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403158763 rs760638875 |
232 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs1279459930 CA403158775 |
233 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA304907364 rs753879238 |
235 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9143773 rs753879238 |
235 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418225393 CA403158808 |
239 | P>S | No |
ClinGen TOPMed |
|
|
rs750808117 CA9143776 COSM3404780 |
240 | V>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA403158857 rs1470013009 |
247 | L>F | No |
ClinGen gnomAD |
|
|
rs1427932580 CA403158863 |
248 | T>S | No |
ClinGen gnomAD |
|
|
rs747657429 CA9143782 |
251 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA304907387 rs140252723 |
253 | A>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs140252723 CA304907388 |
253 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA403158935 rs1369701135 |
259 | I>V | No |
ClinGen gnomAD |
|
|
rs1279733096 CA403158941 |
260 | E>Q | No |
ClinGen gnomAD |
|
|
CA304907396 rs970906050 |
263 | T>I | No |
ClinGen gnomAD |
|
|
CA403158971 rs1222830918 |
264 | Y>C | No |
ClinGen gnomAD |
|
|
CA9143788 rs774038800 |
264 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA9143804 rs774131697 |
266 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937726447 CA304907438 |
267 | E>D | No |
ClinGen TOPMed |
|
|
CA9143805 rs745716844 |
267 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA403159673 rs1325120124 |
268 | T>N | No |
ClinGen gnomAD |
|
|
rs1389347058 CA403159681 |
269 | T>I | No |
ClinGen gnomAD |
|
|
CA9143806 rs187320742 |
270 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765370350 CA403159699 |
273 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403159708 rs763174109 |
274 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755353005 COSM3378887 CA9143814 |
275 | R>W | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA403159720 rs1599398856 |
276 | E>D | No |
ClinGen Ensembl |
|
|
rs1042449422 CA304907465 |
277 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 278 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs543839901 CA9143818 |
280 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748802312 CA9143819 |
281 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1163994286 CA403159749 |
282 | D>N | No |
ClinGen gnomAD |
|
|
CA403159776 rs1396747988 |
285 | D>A | No |
ClinGen gnomAD |
|
|
rs771807199 CA9143823 |
285 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA403159788 rs1415856265 |
287 | L>M | No |
ClinGen TOPMed |
|
|
rs780029103 COSM39646 CA9143826 |
292 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA304907511 rs1002379285 |
298 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403159884 rs1392584388 |
301 | K>Q | No |
ClinGen TOPMed |
|
|
CA403159887 rs1182355727 |
301 | K>T | No |
ClinGen TOPMed |
|
|
CA403159993 rs1232162516 |
302 | K>Q | No |
ClinGen TOPMed |
|
|
CA9143871 rs751383385 |
304 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA9143874 rs747993326 |
305 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403160059 rs1468071062 |
306 | L>F | No |
ClinGen gnomAD |
|
|
rs1365138433 CA403160081 |
308 | R>G | No |
ClinGen TOPMed |
|
|
CA403160095 rs1168456631 |
308 | R>S | No |
ClinGen gnomAD |
|
|
rs1038285130 CA304907713 |
311 | C>W | No |
ClinGen TOPMed |
|
| TCGA novel | 312 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746027500 CA9143877 |
312 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9143881 rs747344322 |
315 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403160208 rs768971377 |
315 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs768971377 CA9143882 |
315 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs765781302 CA9143885 |
319 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 321 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9143917 rs780053387 |
322 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1286841008 CA403160418 |
323 | I>F | No |
ClinGen TOPMed |
|
|
rs751647733 CA9143918 |
324 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309956159 CA403160460 |
325 | D>E | No |
ClinGen TOPMed |
|
|
rs1436209917 CA403160455 |
325 | D>G | No |
ClinGen gnomAD |
|
|
rs1310776473 CA403160467 |
326 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9143921 rs748434800 |
330 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9143924 rs749761917 |
335 | Q>R | No |
ClinGen ExAC |
|
|
rs1016949074 CA304907913 |
339 | E>K | No |
ClinGen gnomAD |
|
|
rs1016949074 CA403160676 |
339 | E>Q | No |
ClinGen gnomAD |
|
|
rs1209006500 CA403160697 |
340 | L>P | No |
ClinGen gnomAD |
|
|
CA9143926 rs773931525 |
342 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9143949 rs768201440 |
345 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs765133484 CA9143951 |
346 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304908004 rs765133484 |
346 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750396872 CA9143952 |
350 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767583157 CA9143954 |
353 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs868081908 CA304908019 |
353 | C>Y | No |
ClinGen Ensembl |
|
|
rs752730714 CA9143955 |
354 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA403160878 rs1211228318 |
356 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 357 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757736045 CA9143959 |
358 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403160898 rs1568468665 |
359 | G>S | No |
ClinGen Ensembl |
|
|
rs779452337 CA9143960 |
360 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222609683 CA403160905 |
360 | S>P | No |
ClinGen gnomAD |
|
|
rs929505238 CA304908037 |
361 | V>M | No |
ClinGen TOPMed |
|
|
rs758844500 CA9143962 |
367 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 369 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599403304 CA403160986 |
370 | D>A | No |
ClinGen Ensembl |
|
|
rs1434458616 CA403160999 |
372 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403161006 rs1299121155 |
373 | M>T | No |
ClinGen gnomAD |
|
|
CA9143998 rs763281055 |
374 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9143999 rs766874081 |
374 | G>V | No |
ClinGen ExAC |
|
|
rs373455789 CA9144001 |
376 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs199913678 CA9144003 |
377 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9144007 CA9144006 rs757979426 |
379 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9144010 rs772141641 |
380 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA9144012 rs535236814 |
386 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403161106 rs1251317878 |
388 | L>P | No |
ClinGen gnomAD |
|
|
rs763264163 CA403161116 |
390 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9144015 rs763264163 |
390 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539611010 CA304910177 |
391 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs539611010 CA403161123 |
391 | P>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 396 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768077536 CA9144019 |
396 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9144020 rs752188214 |
396 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403161152 rs1295937505 |
397 | A>T | No |
ClinGen gnomAD |
|
|
rs1309026455 CA403161156 |
397 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA304910210 rs78313078 |
398 | V>G | No |
ClinGen Ensembl |
|
|
CA9144023 rs753384539 |
398 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231042475 CA403161164 |
399 | P>S | No |
ClinGen TOPMed |
|
|
rs778507837 CA9144025 |
400 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs773360200 CA403161203 |
405 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463488943 CA403161205 |
406 | V>I | No |
ClinGen gnomAD |
|
|
CA9144032 rs763024326 |
409 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs956797524 CA304910226 |
410 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA403161250 rs1380275032 |
413 | L>P | No |
ClinGen gnomAD |
|
|
CA9144037 rs113305305 |
414 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs991821954 CA403161288 |
418 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA304910606 rs991821954 |
418 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403161337 rs1217613253 |
425 | L>P | No |
ClinGen gnomAD |
|
|
rs1477413161 CA403161368 |
430 | N>D | No |
ClinGen gnomAD |
|
|
rs372890572 CA304910624 |
430 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9144086 rs759426286 |
430 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141309384 CA9144088 |
433 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs912047950 CA304910648 |
434 | H>R | No |
ClinGen TOPMed |
|
|
CA9144091 rs750567944 |
435 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA403161415 rs1360277315 |
437 | L>F | No |
ClinGen gnomAD |
|
|
rs1339259286 CA403161432 |
440 | N>Y | No |
ClinGen gnomAD |
|
|
rs1241867959 CA403161459 |
443 | Q>H | No |
ClinGen gnomAD |
|
|
CA403161461 rs1283496609 |
444 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 446 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304910650 rs572243564 |
446 | G>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA403161501 rs1440643694 |
450 | N>K | No |
ClinGen gnomAD |
|
|
CA403161508 rs1186845437 |
451 | P>L | No |
ClinGen gnomAD |
|
|
rs751591616 CA9144129 |
453 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1374880013 CA403161537 |
455 | G>R | No |
ClinGen gnomAD |
|
|
rs1599406298 CA403161542 |
456 | T>P | No |
ClinGen Ensembl |
|
|
rs753091870 CA9144132 |
458 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142105943 CA403161560 |
459 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9144135 rs201164454 |
459 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403161562 rs1599406352 |
460 | L>M | No |
ClinGen Ensembl |
|
|
CA403161565 rs1423850953 |
460 | L>P | No |
ClinGen gnomAD |
|
|
CA403161566 rs1423850953 |
460 | L>R | No |
ClinGen gnomAD |
|
|
CA9144136 COSM1711710 rs573587268 |
462 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs771732155 CA9144139 |
465 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304911532 rs546928044 |
466 | M>I | No |
ClinGen Ensembl |
|
|
CA9144141 rs376908459 |
466 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9144142 rs768388352 |
467 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9144143 rs572516987 |
468 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403161616 rs1321265871 |
469 | T>P | No |
ClinGen gnomAD |
|
|
CA403161632 rs1288484218 |
471 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1040196718 CA304911538 |
471 | Q>R | No |
ClinGen TOPMed |
|
|
CA403161650 rs767751088 |
474 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767751088 CA9144148 |
474 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 475 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9144149 rs752928582 |
475 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1157836448 CA403161684 |
480 | K>Q | No |
ClinGen gnomAD |
|
|
rs1359602067 CA403161688 |
480 | K>R | No |
ClinGen gnomAD |
|
|
rs995965057 CA304911601 |
481 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs995965057 CA403161693 |
481 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs749915574 CA9144155 |
482 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749915574 CA403161700 |
482 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9144156 rs757805689 |
484 | E>D | No |
ClinGen ExAC |
|
|
CA403161735 rs1477516324 |
485 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1402980137 CA403161743 |
486 | A>V | No |
ClinGen TOPMed |
|
|
CA9144196 rs751050539 |
488 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9144198 rs754527648 |
490 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403161772 rs1225986588 |
492 | D>N | No |
ClinGen gnomAD |
|
|
rs777364957 CA9144201 |
495 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1490311701 CA403161803 |
496 | W>S | No |
ClinGen TOPMed |
|
|
rs749174262 CA403161810 |
497 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs749174262 CA9144202 |
497 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9144205 rs377248327 |
499 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403161827 rs1487931655 |
500 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9144207 rs776782833 |
501 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374882127 CA304912368 |
503 | A>T | No |
ClinGen gnomAD |
|
|
rs926750328 CA304912372 |
503 | A>V | No |
ClinGen Ensembl |
|
|
rs371725051 CA9144210 |
504 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403161851 rs371725051 |
504 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403161855 rs375024471 |
505 | T>K | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1360376676 CA403161859 |
506 | A>G | No |
ClinGen gnomAD |
|
|
CA304912401 rs866864592 |
506 | A>T | No |
ClinGen Ensembl |
|
|
rs766844515 CA9144213 |
507 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs774802644 CA9144214 |
507 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs760061071 CA9144216 |
509 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9144217 rs766880930 |
509 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9144218 rs752258841 |
510 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9144221 rs138581300 |
511 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403161894 rs1241981409 |
512 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1317227395 CA403161889 |
512 | V>I | No |
ClinGen TOPMed |
|
|
rs1395351218 CA403161919 |
514 | A>V | No |
ClinGen gnomAD |
|
|
rs761106521 CA9144256 |
516 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs200026300 CA9144258 |
517 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200026300 CA9144259 |
517 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868821915 CA304912618 |
519 | W>* | No |
ClinGen Ensembl |
|
|
CA403161946 rs1599408348 |
519 | W>R | No |
ClinGen Ensembl |
|
|
CA403161962 rs1382889154 |
521 | K>* | No |
ClinGen TOPMed |
|
|
CA403161976 rs1275266904 |
522 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 523 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278821418 CA403161991 |
525 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1216911717 CA403162005 |
527 | E>* | No |
ClinGen gnomAD |
|
|
rs1568472109 CA403162007 |
527 | E>G | No |
ClinGen Ensembl |
|
|
CA403162013 rs1171695512 |
528 | A>S | No |
ClinGen TOPMed |
|
|
CA9144268 rs757459022 |
530 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9144270 rs746118454 |
531 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403162027 rs746118454 |
531 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 533 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370240434 CA403162045 |
535 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370240434 CA9144275 |
535 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772962304 CA9144278 |
537 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289240110 CA403162070 |
539 | M>V | No |
ClinGen TOPMed |
|
|
CA403162097 rs1247227647 |
543 | A>V | No |
ClinGen gnomAD |
|
|
COSM1397646 CA304912719 rs970648780 |
544 | M>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA403162100 rs1263938690 |
544 | M>V | No |
ClinGen gnomAD |
|
|
rs1359117349 CA403162111 |
545 | S>L | No |
ClinGen gnomAD |
|
|
CA403162113 rs1217833050 |
546 | E>K | No |
ClinGen gnomAD |
|
|
rs767500700 CA9144283 |
551 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9144284 rs757368965 |
552 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1260429066 CA403162162 |
553 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA304912754 rs958079601 |
554 | T>I | No |
ClinGen TOPMed |
|
|
rs780461960 CA9144288 |
558 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA304912789 rs1037693196 |
559 | G>S | No |
ClinGen TOPMed |
|
|
CA9144289 rs552459149 |
559 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403162216 rs1397886522 |
561 | W>* | No |
ClinGen gnomAD |
|
|
CA9144291 rs537825002 |
561 | W>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1599408647 CA403162231 |
563 | V>E | No |
ClinGen Ensembl |
|
|
rs1310801774 CA403162230 |
563 | V>L | No |
ClinGen gnomAD |
|
|
rs1310801774 CA403162228 |
563 | V>M | No |
ClinGen gnomAD |
|
|
CA9144316 rs773917703 |
566 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9144318 rs375332778 |
567 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1428649357 CA403162317 |
572 | T>N | No |
ClinGen gnomAD |
|
|
rs768637937 CA9144322 |
573 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304913054 rs1021959814 |
573 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA403162329 rs1190149418 |
574 | T>S | No |
ClinGen TOPMed |
|
|
rs751679761 CA9144325 |
575 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187716105 CA403162360 |
578 | D>N | No |
ClinGen TOPMed |
|
|
rs1217969717 CA403162374 |
579 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs767928955 CA9144327 |
579 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA403162395 rs1218746706 |
582 | A>V | No |
ClinGen gnomAD |
|
|
rs868506356 CA304913066 |
583 | L>P | No |
ClinGen Ensembl |
|
|
rs756679671 CA9144329 |
584 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756679671 CA9144330 |
584 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9144331 rs753358551 |
585 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA403162424 rs1489364472 |
587 | L>P | No |
ClinGen gnomAD |
|
|
rs756684008 CA9144332 |
587 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403162428 rs1268122676 |
588 | E>* | No |
ClinGen gnomAD |
|
|
CA403162432 rs1478165685 |
588 | E>D | No |
ClinGen gnomAD |
|
|
CA9144334 rs745455637 |
590 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA9144337 rs1315990232 |
594 | P>C | No |
ClinGen TOPMed |
|
|
rs779811890 CA9144336 |
594 | P>R | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q15833
[MIM: 613101]: Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease (FHL5)
A rare, autosomal recessive disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. Some patients may present in early infancy with severe diarrhea, prior to the onset of typical FHL features, whereas others present later in childhood and have a more protracted course without diarrhea. The early-onset diarrhea is due to enteropathy reminiscent of microvillus inclusion disease. {ECO:0000269|PubMed:19804848, ECO:0000269|PubMed:19884660}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare, autosomal recessive disorder characterized by immune dysregulation with hypercytokinemia, defective function of natural killer cell, and massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits and ataxia. Some patients may present in early infancy with severe diarrhea, prior to the onset of typical FHL features, whereas others present later in childhood and have a more protracted course without diarrhea. The early-onset diarrhea is due to enteropathy reminiscent of microvillus inclusion disease. {ECO:0000269|PubMed:19804848, ECO:0000269|PubMed:19884660}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q15833
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q15833 | |||
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| azurophil granule | Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| cytolytic granule | A specialized secretory lysosome that is present in cells with cytolytic capability such as cytotoxic T lymphocytes and natural killer cells. Cytolytic granules mediate the storage and regulated excretion of lytic molecules for killing of target cells. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynapse | The part of a synapse that is part of the presynaptic cell. |
| secretory granule | A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. |
| specific granule | Granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase. |
| tertiary granule | A secretory granule that contains cathepsin and gelatinase and is readily exocytosed upon cell activation; found primarily in mature neutrophil cells. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| syntaxin binding | Binding to a syntaxin, a SNAP receptor involved in the docking of synaptic vesicles at the presynaptic zone of a synapse. |
| syntaxin-1 binding | Binding to a syntaxin-1 SNAP receptor. |
| syntaxin-3 binding | Binding to a syntaxin-3 SNAP receptor. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| leukocyte mediated cytotoxicity | The directed killing of a target cell by a leukocyte. |
| neurotransmitter secretion | The regulated release of neurotransmitter from the presynapse into the synaptic cleft via calcium-regulated exocytosis during synaptic transmission. |
| neutrophil degranulation | The regulated exocytosis of secretory granules containing preformed mediators such as proteases, lipases, and inflammatory mediators by a neutrophil. |
| regulation of mast cell degranulation | Any process that modulates the frequency, rate, or extent of mast cell degranulation. |
| vesicle docking involved in exocytosis | The initial attachment of a vesicle membrane to a target membrane, mediated by proteins protruding from the membrane of the vesicle and the target membrane, that contributes to exocytosis. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P30619 | SEC1 | Protein transport protein SEC1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9H267 | VPS33B | Vacuolar protein sorting-associated protein 33B | Homo sapiens (Human) | PR |
| O08599 | Stxbp1 | Syntaxin-binding protein 1 | Mus musculus (Mouse) | PR |
| Q64324 | Stxbp2 | Syntaxin-binding protein 2 | Mus musculus (Mouse) | PR |
| Q62753 | Stxbp2 | Syntaxin-binding protein 2 | Rattus norvegicus (Rat) | PR |
| Q5VNU3 | Os06g0135900 | Probable protein transport Sec1b | Oryza sativa subsp japonica (Rice) | PR |
| Q9C5P7 | SEC1A | Protein transport Sec1a | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPSGLKAVV | GEKILSGVIR | SVKKDGEWKV | LIMDHPSMRI | LSSCCKMSDI | LAEGITIVED |
| 70 | 80 | 90 | 100 | 110 | 120 |
| INKRREPIPS | LEAIYLLSPT | EKSVQALIKD | FQGTPTFTYK | AAHIFFTDTC | PEPLFSELGR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SRLAKVVKTL | KEIHLAFLPY | EAQVFSLDAP | HSTYNLYCPF | RAEERTRQLE | VLAQQIATLC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ATLQEYPAIR | YRKGPEDTAQ | LAHAVLAKLN | AFKADTPSLG | EGPEKTRSQL | LIMDRAADPV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SPLLHELTFQ | AMAYDLLDIE | QDTYRYETTG | LSEAREKAVL | LDEDDDLWVE | LRHMHIADVS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KKVTELLRTF | CESKRLTTDK | ANIKDLSQIL | KKMPQYQKEL | NKYSTHLHLA | DDCMKHFKGS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VEKLCSVEQD | LAMGSDAEGE | KIKDSMKLIV | PVLLDAAVPA | YDKIRVLLLY | ILLRNGVSEE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NLAKLIQHAN | VQAHSSLIRN | LEQLGGTVTN | PGGSGTSSRL | EPRERMEPTY | QLSRWTPVIK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DVMEDAVEDR | LDRNLWPFVS | DPAPTASSQA | AVSARFGHWH | KNKAGIEARA | GPRLIVYVMG |
| 550 | 560 | 570 | 580 | 590 | |
| GVAMSEMRAA | YEVTRATEGK | WEVLIGSSHI | LTPTRFLDDL | KALDKKLEDI | ALP |