P16885
SS
Gene name |
PLCG2 |
Protein name |
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 |
Names |
EC 3.1.4.11 , Phosphoinositide phospholipase C-gamma-2 , Phospholipase C-IV , PLC-IV , Phospholipase C-gamma-2 , PLC-gamma-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5336 |
EC number |
3.1.4.11: Phosphoric diester hydrolases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
312-456 (Catalytic PLC X domain) |
Relief mechanism |
PTM, Partner binding |
Assay |
|
Target domain |
312-456 (Catalytic PLC X domain) |
Relief mechanism |
PTM, Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Lowe J et al. (2022) "Conformational switches that control the TEC kinase - PLCγ signaling axis", Journal of structural biology: X, 6, 100061
- Bunney TD et al. (2012) "Structural and functional integration of the PLCγ interaction domains critical for regulatory mechanisms and signaling deregulation", Structure (London, England : 1993), 20, 2062-75
- Hajicek N et al. (2019) "Structural basis for the activation of PLC-γ isozymes by phosphorylation and cancer-associated mutations", eLife, 8,
- Devkota S et al. (2015) "Scaffold Protein SLP-76 Primes PLCγ1 for Activation by ITK-Mediated Phosphorylation", Journal of molecular biology, 427, 2734-47
- Kunze K et al. (2014) "A recurrent activating PLCG1 mutation in cardiac angiosarcomas increases apoptosis resistance and invasiveness of endothelial cells", Cancer research, 74, 6173-83
- DeBell K et al. (2007) "Intramolecular regulation of phospholipase C-gamma1 by its C-terminal Src homology 2 domain", Molecular and cellular biology, 27, 854-63
- Xie Q et al. (2013) "Substrate recognition of PLCγ1 via a specific docking surface on Itk", Journal of molecular biology, 425, 683-96
- Hajicek N et al. (2013) "Autoinhibition and phosphorylation-induced activation of phospholipase C-γ isozymes", Biochemistry, 52, 4810-9
Autoinhibited structure
Activated structure
4 structures for P16885
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2K2J | NMR | - | PDB | ||
| 2W2W | X-ray | 280 A | PDB | ||
| 2W2X | X-ray | 230 A | PDB | ||
| AF-P16885-F1 | Predicted | AlphaFoldDB |
1152 variants for P16885
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001421588 rs199972098 CA8193000 |
4 | T>M | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs189301790 RCV000768282 CA8193017 RCV001086276 RCV000757665 |
26 | T>M | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61749044 RCV000551682 RCV001700399 CA8193019 RCV001724035 |
28 | M>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs773040139 RCV001300282 CA8193023 RCV003222295 |
33 | F>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs147349332 RCV002495368 RCV000887224 CA8193029 |
37 | T>N | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA396895521 RCV000804933 rs370352962 |
43 | V>F | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8193036 RCV001224944 rs370352962 RCV002504292 |
43 | V>I | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA396895533 RCV001350292 rs368137889 |
45 | V>M | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001091768 RCV001340293 CA285164737 rs532678378 |
53 | A>T | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs753845661 CA8193052 RCV000650043 |
58 | A>V | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199638859 RCV001208950 CA8193111 |
89 | R>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA285163745 rs991965495 RCV001027799 RCV001862417 |
102 | T>A | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000818849 CA8193121 rs754914807 RCV002478913 |
105 | V>I | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs775430573 CA8193159 RCV001217234 |
121 | N>H | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1362812278 RCV000816486 CA396901451 |
123 | L>V | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs866421259 RCV001227011 CA285173456 |
129 | L>V | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000703259 CA8193166 rs61755444 RCV001311454 |
133 | A>V | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs367885048 RCV002486181 RCV001304413 CA8193169 |
136 | A>T | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs777990663 RCV001217147 CA8193170 RCV002491673 |
136 | A>V | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597358022 RCV000792054 CA396901643 |
139 | P>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8193175 RCV002477850 rs554363067 RCV000805458 RCV000996349 RCV002537200 |
141 | I>V | Familial cold autoinflammatory syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1906834252 RCV001244789 |
154 | D>V | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207477 rs1906834407 |
156 | T>S | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8193249 RCV002481583 RCV001047902 rs753974933 RCV000497427 |
168 | T>A | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA396902981 RCV000797893 rs1597364394 |
169 | I>S | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8193252 RCV002495164 RCV000818209 rs759598100 |
170 | L>F | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200981336 CA8193256 RCV000700572 |
178 | S>N | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001238647 CA8193261 rs748418080 |
181 | K>R | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002493039 CA8193262 RCV000650034 rs772451566 |
183 | L>F | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000821677 rs763410656 |
191 | G>missing | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1032603937 RCV000816290 CA285188869 |
193 | H>D | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8193306 CA285188874 RCV000650059 rs201080992 RCV001052216 |
193 | H>Q | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001304909 rs372054297 CA8193307 RCV002504462 |
194 | K>I | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001248573 CA8193310 RCV001726468 rs368738612 RCV002484399 |
198 | S>R | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8193315 RCV000696310 rs766231080 |
206 | Y>F | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001760389 RCV001318068 RCV002486256 CA396903362 rs1367179036 |
210 | M>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000524795 CA8193317 rs201294738 |
216 | S>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs551539187 RCV002536569 RCV000757667 CA8193341 |
218 | L>I | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000689794 CA8193397 RCV000757668 rs199760975 |
236 | P>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1908182940 RCV001046438 |
241 | V>I | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_031560 RCV001702517 CA8193405 RCV000550744 RCV001811062 rs11548656 |
244 | H>R | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000699232 rs190840748 CA8193411 |
251 | I>V | Familial cold autoinflammatory syndrome 3 (fcas3) Familial cold autoinflammatory syndrome 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001700400 RCV001724036 CA8193451 rs45443101 RCV000534947 |
257 | H>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002477445 rs372563994 RCV000650044 CA8193455 RCV001532287 |
262 | L>V | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA396897719 rs1353126296 RCV001341268 |
268 | R>Q | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8193460 RCV000456014 VAR_031561 RCV000755360 RCV001513118 rs1143687 |
268 | R>W | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA396897776 rs1567517826 RCV000684998 |
276 | T>N | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000691412 rs372494175 CA396897780 |
277 | M>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs757316414 RCV002493576 CA8193465 RCV001299189 |
280 | T>S | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8193469 RCV001300766 rs779592401 |
283 | P>R | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs190687540 RCV002505561 CA8193470 RCV001038375 |
284 | F>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001220574 RCV002563009 rs962152757 CA285123926 |
286 | F>L | Inborn genetic diseases Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs764885126 RCV001335969 |
300 | S>I | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1908633748 RCV001330953 RCV002476543 |
302 | W>C | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001702518 rs199636472 RCV000540341 CA8193513 RCV001336487 RCV000768283 |
308 | A>V | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA285126166 RCV001222926 RCV002480731 rs768664050 |
309 | V>M | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001349380 CA8193515 rs368534849 RCV002070219 |
311 | M>I | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000650035 rs1555517092 RCV002493040 CA396898040 |
314 | M>I | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8193518 RCV000821452 rs773116531 |
317 | P>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001071792 rs1908637761 |
329 | T>K | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8193558 RCV000917957 rs200824224 |
350 | R>H | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs918993653 RCV001049690 |
351 | M>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs375876385 RCV000696037 RCV002532342 CA285131919 |
362 | D>E | Inborn genetic diseases Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001300517 rs1908861048 |
376 | R>Q | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201654184 RCV000650039 CA8193624 RCV001702707 |
387 | Q>P | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8193625 RCV001327179 rs772084816 |
391 | D>E | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA396899186 RCV000701505 rs1051315426 CA285138519 |
398 | S>R | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
rs1909108487 RCV001050607 |
402 | I>V | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1909109489 RCV001232067 |
407 | E>G | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1909110302 RCV001059041 |
412 | E>Q | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8193677 RCV000538661 rs201490178 |
420 | A>T | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001237118 rs1909111711 |
422 | K>R | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224250 rs780141402 CA8193681 |
427 | D>N | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002495184 RCV000823866 rs757785924 CA396899426 |
434 | T>M | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8193689 rs200137340 RCV000650057 |
437 | S>G | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200919414 CA8193694 RCV000650047 |
448 | R>W | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1597121708 RCV002307618 RCV000800870 CA915949365 |
461 | R>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001327657 CA396899613 rs3935625 |
461 | R>Q | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001341623 rs1909323788 |
462 | G>D | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597121726 RCV000793781 CA396899668 |
469 | E>G | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1250133694 CA396899680 RCV000815676 |
471 | K>Q | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1909325738 RCV001237119 |
472 | K>E | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1909326421 RCV001297415 |
475 | H>D | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000797510 CA8193752 rs781145125 |
476 | K>R | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001573290 CA8193757 rs187956469 RCV000548599 |
482 | Y>H | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8193759 rs201746780 RCV000891886 |
483 | M>I | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs369542682 CA8193800 RCV001350430 |
493 | R>Q | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
CA8193807 RCV000505901 rs772234560 RCV001352201 |
501 | A>S | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8193813 RCV000887894 rs151013036 |
511 | Q>H | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1348054495 CA396900047 RCV001321814 |
520 | D>Y | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1909472317 RCV001304719 |
521 | I>T | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs72824905 CA396900063 RCV001204459 |
522 | P>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs72824905 RCV001086875 CA8193857 RCV000514603 |
522 | P>R | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8193859 rs574435526 RCV002491614 RCV001204236 |
523 | P>A | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001052916 rs756033757 CA8193863 |
527 | H>Y | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001500580 CA8193864 rs746114863 |
528 | F>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001315439 rs1663889181 |
532 | W>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8193867 rs370429726 RCV000688290 |
532 | W>S | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV002497180 CA396900211 RCV000552059 rs1555519355 |
545 | K>R | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs372347274 RCV001225563 |
557 | K>N | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002485747 RCV000703592 CA8193888 rs375590398 |
565 | E>D | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002506238 RCV001727736 rs75472618 RCV001572639 RCV000532354 CA8193891 |
571 | N>S | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001857320 rs1324356186 RCV000513048 CA396900775 |
579 | R>W | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001203371 rs1049453423 CA285153699 |
587 | R>W | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555519696 RCV000624619 CA396900855 |
592 | M>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8193936 RCV002477560 rs776632754 RCV000692361 |
593 | E>G | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8193940 RCV002497364 RCV001038881 rs758138167 |
595 | G>R | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001338933 rs1909576451 |
600 | Y>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747542285 CA8193951 RCV001223513 |
614 | I>V | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8193954 RCV000697090 rs759496244 |
618 | R>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001702825 CA501014 RCV000650067 rs147396004 |
620 | T>M | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1909580178 RCV001335966 |
623 | R>L | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8193966 RCV000542513 rs778265649 |
628 | E>Q | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8193978 RCV003152739 rs377753289 RCV000959156 |
639 | N>S | Familial cold autoinflammatory syndrome 3 Clonal Cytopenia of Undetermined Significance [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA396901161 RCV001531236 rs374927413 CA396901160 RCV000689234 |
641 | H>Q | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8193986 RCV000650032 rs781621510 |
645 | P>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1567529655 RCV001040164 CA396901236 |
650 | S>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396901256 rs1325870340 RCV001340869 |
653 | R>H | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000788569 RCV000552964 rs758439876 CA8194028 |
657 | E>D | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs778096311 CA396901333 RCV000822016 |
661 | M>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1909678188 RCV001262948 |
664 | P>S | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057519831 RCV002521503 CA16602667 RCV000443129 VAR_074310 |
665 | R>W | B-cell chronic lymphocytic leukemia Familial cold autoinflammatory syndrome 3 found in patients with chronic lymphocytic leukemia; associated with BTK mutation S-481; unknown pathological significance; results in resistance to ibrutinib therapy [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA8194036 RCV001810999 rs150833842 RCV001082160 |
671 | I>V | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000926537 rs541071022 CA8194043 RCV002502823 |
678 | D>N | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs758450563 CA8194045 RCV000694890 |
680 | Y>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001751506 rs764736362 RCV001248748 CA8194081 |
694 | R>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs775025176 CA8194082 RCV001307615 |
696 | N>K | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8194085 RCV002484274 rs767717794 RCV001232977 |
697 | R>Q | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8194091 rs566611968 RCV000800115 |
700 | R>Q | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs397514562 CA130461 RCV000032898 VAR_069211 |
707 | S>Y | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation APLAID; results in increased epidermal growth factor-stimulated production of intracellular IP3 and increased intracellular calcium release; is a hypermorphic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1381167403 RCV001227511 |
708 | A>P | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8194101 RCV000788765 RCV000650033 rs767628464 |
718 | S>G | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs187454354 RCV001692183 CA8194103 RCV000555827 |
721 | E>K | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002476399 rs761399374 CA8194104 RCV001301963 |
722 | K>E | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1420066208 RCV001338777 CA396902087 |
729 | M>T | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs377095061 CA8194111 RCV001071834 |
731 | L>M | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001058071 CA8194112 RCV000788847 rs369760877 |
732 | R>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001298908 CA8194117 rs748649938 |
737 | P>A | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8194122 RCV002484208 RCV001222546 rs776768909 |
742 | R>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752539679 RCV001207799 CA8194125 |
743 | Y>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001348563 rs762848692 CA8194126 |
744 | N>S | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001305201 rs1387006185 CA396902198 |
746 | E>Q | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002491708 CA8194158 rs190001915 RCV001224056 |
754 | D>H | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002487627 rs955126333 RCV000788948 CA285169176 RCV002535797 |
766 | N>H | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000650037 rs201803492 CA8194224 |
771 | Q>R | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs142825971 RCV000650055 CA8194227 RCV001811000 |
775 | K>R | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003106191 CA285172210 RCV001311458 rs983424200 |
792 | R>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA8194238 RCV000953363 rs117077093 RCV001529983 |
798 | N>S | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs769337881 RCV001316677 CA8194241 RCV002476475 |
800 | S>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1910307318 RCV001342152 |
827 | I>V | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000813252 rs764926974 CA285177370 |
829 | T>A | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8194292 RCV002553186 rs368530152 RCV001048766 |
832 | F>L | Inborn genetic diseases Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8194294 RCV002521480 rs753762025 RCV000416275 |
833 | E>K | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs754958154 RCV000650040 CA396902821 |
834 | E>A | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002493683 RCV002511078 RCV001322211 rs186829827 CA8194296 |
835 | L>I | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8194337 RCV002477444 RCV000650042 rs756855626 |
841 | E>G | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_074311 rs1057519832 CA16602668 CA16602669 RCV000426878 RCV000435800 |
845 | L>F | B-cell chronic lymphocytic leukemia found in patients with chronic lymphocytic leukemia; associated with BTK mutation S-481; unknown pathological significance; results in resistance to ibrutinib therapy [ClinVar, UniProt] | Yes |
ClinGen ClinVar TOPMed dbSNP UniProt |
|
RCV001027875 CA8194342 RCV000514848 RCV001088196 rs114618894 |
848 | L>F | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001326102 rs559219743 CA396903122 |
861 | V>M | Familial cold autoinflammatory syndrome 3 (fcas3) Familial cold autoinflammatory syndrome 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000816837 rs766006428 CA8194376 |
863 | A>D | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000884937 rs200677528 CA8194380 |
877 | E>D | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8194391 RCV000650036 rs369092713 |
887 | E>A | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201601618 CA8194392 RCV001245159 RCV001773556 |
887 | E>D | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs73598710 RCV001295798 |
934 | V>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000908278 rs139462941 CA8194439 |
946 | N>S | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001306904 RCV002292626 rs759995209 CA8194461 |
956 | R>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs371326699 CA8194466 RCV001504538 |
961 | T>M | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs770381413 RCV000478466 CA8194475 RCV002496877 RCV002526978 |
971 | P>L | Familial cold autoinflammatory syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000692048 CA285188028 rs1016837424 |
977 | Y>* | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001302282 rs1910708985 |
983 | T>I | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8194493 rs199840870 RCV001071108 |
985 | V>I | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs766228601 RCV001062980 CA8194502 |
998 | D>E | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1024473204 RCV001041889 CA285188115 |
1001 | R>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs752209691 RCV002486217 RCV001313064 CA8194505 |
1001 | R>H | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs977656147 RCV000696376 CA396906121 |
1002 | L>F | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000797422 CA396906229 rs1597143704 RCV002507379 |
1012 | L>F | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8194556 CA8194558 RCV001226507 RCV002497772 rs368241065 |
1025 | H>Q | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ESP ExAC gnomAD ClinVar dbSNP |
|
CA8194560 rs747605077 RCV001325640 |
1031 | N>S | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs563473638 CA8194564 RCV001034229 |
1034 | T>M | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001281021 RCV000688914 CA8194567 rs373561919 |
1037 | V>I | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs114262189 RCV000543285 CA8194570 |
1042 | S>T | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001225387 CA8194571 rs201647862 |
1043 | M>V | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003160554 RCV001067125 CA8194577 rs372812991 |
1050 | P>L | Inborn genetic diseases Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000807018 rs1597144802 CA915949366 |
1056 | Q>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs767605816 RCV001054215 CA8194588 |
1062 | T>M | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001066325 rs1426507749 CA396907535 |
1088 | E>A | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8194653 rs763763571 RCV000812700 |
1092 | A>D | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8194658 RCV001323062 RCV002476517 rs771322094 |
1097 | N>D | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002485754 RCV002261194 rs749338323 RCV000704073 |
1097 | N>missing | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001508783 RCV001248496 rs1008211026 CA285193880 |
1103 | V>A | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000819918 CA396908238 rs1597146336 |
1111 | P>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001065204 CA8194693 RCV002489690 rs372606303 |
1115 | P>S | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001232181 rs1254901490 CA396908432 |
1120 | V>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs374877793 CA8194698 RCV001063506 RCV002497453 |
1125 | Y>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000691512 rs369259797 RCV002493174 RCV001311459 CA8194700 |
1127 | P>R | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001508784 CA285195004 RCV000692479 RCV002477563 rs1003946385 |
1130 | A>S | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8194702 RCV001408275 rs756451585 |
1131 | F>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002477849 rs754374903 RCV000804931 CA8194704 |
1131 | F>L | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8194706 RCV000692643 rs779014379 |
1133 | R>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597146407 RCV000801339 |
1139 | E>missing | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396908789 rs958943394 RCV000650041 |
1141 | M>K | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001247651 RCV002491841 rs146175110 CA8194717 |
1153 | Y>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs374517633 CA8194753 RCV000706144 |
1166 | P>T | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1265110994 RCV001212727 CA396909767 RCV002261307 RCV002480700 |
1175 | I>T | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001069550 CA8194757 rs368684142 |
1175 | I>V | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs759887275 RCV002477821 CA8194759 RCV000797709 |
1182 | V>I | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000797509 rs1287516481 CA396909981 |
1190 | L>P | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001211422 rs746134531 CA8194779 |
1191 | E>Q | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001311460 RCV001871776 CA8194782 rs761797236 |
1192 | S>T | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1338237295 RCV001318574 |
1196 | L>I | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1388794490 CA396898201 RCV001054221 |
1197 | Y>H | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA396898255 RCV001347527 rs1395093005 |
1205 | R>S | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001048396 rs373013824 RCV002481941 CA8194796 RCV002261261 |
1217 | Y>C | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8194800 RCV000896491 RCV002065630 rs370547009 |
1224 | R>H | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200800716 RCV000796686 CA8194811 |
1244 | L>V | Familial cold autoinflammatory syndrome 3 (fcas3) Familial cold autoinflammatory syndrome 3 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001055678 rs867313284 RCV002479338 CA396898649 |
1248 | K>Q | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001306913 RCV002499583 rs1197295448 |
1249 | C>W | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001320948 rs1911592073 RCV002499624 |
1250 | N>K | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8194817 RCV000815158 RCV001330952 rs748492148 RCV002507423 |
1252 | R>T | Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8194857 rs374430619 RCV001211666 |
1262 | K>N | Familial cold autoinflammatory syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs780153793 CA8192999 |
4 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs199972098 CA396895282 |
4 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8193002 rs556174475 |
5 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202002041 CA8193003 |
6 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772051902 CA8193004 |
8 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA396895302 rs9936371 |
8 | D>H | No |
ClinGen gnomAD |
|
|
CA285164493 rs9936371 |
8 | D>Y | No |
ClinGen gnomAD |
|
|
CA396895310 rs1381077690 |
9 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA396895316 rs1234733197 |
10 | L>P | No |
ClinGen gnomAD |
|
|
CA8193007 rs766002121 |
10 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs753458249 CA396895321 |
11 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753458249 CA8193008 |
11 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763370826 CA8193009 |
12 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA396895333 rs1261993965 |
13 | Y>S | No |
ClinGen gnomAD |
|
|
rs1050133080 CA285164522 |
15 | K>R | No |
ClinGen Ensembl |
|
|
CA8193010 rs764524085 |
16 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193011 rs752018966 |
16 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA285164535 rs750388097 |
17 | Q>H | No |
ClinGen Ensembl |
|
|
rs757826017 CA8193012 |
17 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757826017 CA396895362 |
17 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001091767 rs1910955135 |
20 | R>K | No |
ClinVar dbSNP |
|
|
CA396895389 rs1248111391 |
21 | A>S | No |
ClinGen TOPMed |
|
|
CA396895394 rs1423487027 |
22 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1365609689 CA396895405 |
23 | E>D | No |
ClinGen gnomAD |
|
|
rs1158633876 CA396895418 |
26 | T>A | No |
ClinGen gnomAD |
|
|
rs778662619 CA8193020 |
29 | T>S | No |
ClinGen ExAC |
|
|
CA396895438 rs1391622471 |
29 | T>S | No |
ClinGen gnomAD |
|
|
rs372502550 CA8193021 |
30 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8193022 rs372502550 |
30 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1314680723 CA396895455 |
32 | S>G | No |
ClinGen gnomAD |
|
|
CA396895457 rs1238219389 |
32 | S>T | No |
ClinGen gnomAD |
|
|
CA396895466 rs760188007 |
33 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs770382676 CA8193025 |
34 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193026 rs537204469 |
34 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396895471 rs537204469 |
34 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759241889 CA8193027 |
35 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs147349332 CA285164649 |
37 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765042969 CA396895486 |
37 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA8193028 rs765042969 |
37 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1178533195 CA396895492 |
38 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396895504 rs1347311494 |
40 | R>Q | No |
ClinGen gnomAD |
|
|
CA8193038 rs368137889 |
45 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8193039 rs758215832 |
47 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA8193040 rs777730567 |
47 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs746891285 CA8193041 |
48 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396895552 rs746891285 |
48 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396895564 rs1231997442 |
49 | T>M | No |
ClinGen gnomAD |
|
|
rs1210167796 CA396895561 |
49 | T>S | No |
ClinGen TOPMed |
|
|
CA8193044 rs370242901 |
50 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770951220 CA8193042 |
50 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193046 rs775303395 |
51 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193047 rs762228969 |
52 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1253716514 CA396895583 |
53 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA396895582 rs1253716514 |
53 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773671139 CA8193049 |
55 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396895611 rs1597317576 |
57 | T>P | No |
ClinGen Ensembl |
|
|
rs1429527089 CA396895614 |
57 | T>S | No |
ClinGen gnomAD |
|
|
CA8193051 rs766974268 |
58 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396895625 rs1396122255 CA396895626 |
59 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA396895641 rs553657822 |
61 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs988309398 CA285164774 |
65 | L>V | No |
ClinGen Ensembl |
|
|
CA285163592 rs905896731 |
66 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8193097 rs761979331 |
66 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA8193096 rs751838180 |
66 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA396900450 rs1231068460 |
67 | I>V | No |
ClinGen TOPMed |
|
|
CA8193098 CA285163606 rs184409507 |
68 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184409507 CA285163618 |
68 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs534845546 CA8193099 |
69 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756113383 CA8193100 |
70 | I>L | No |
ClinGen ExAC |
|
|
rs756113383 CA285163634 |
70 | I>V | No |
ClinGen ExAC |
|
|
rs780140339 CA8193102 |
74 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA396900499 rs1353659689 |
74 | R>H | No |
ClinGen gnomAD |
|
|
rs1282925498 CA396900503 |
75 | P>A | No |
ClinGen gnomAD |
|
|
rs1440269630 CA396900505 |
75 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1470904080 CA396900518 |
77 | K>R | No |
ClinGen gnomAD |
|
|
CA396900525 rs1175008948 |
78 | N>T | No |
ClinGen gnomAD |
|
|
CA285163662 rs776395895 |
80 | K>T | No |
ClinGen Ensembl |
|
|
rs746298243 CA8193109 |
84 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1373471899 CA396900589 |
87 | A>G | No |
ClinGen gnomAD |
|
|
rs770220765 CA396900592 |
88 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs770220765 CA8193110 |
88 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8193112 rs762900860 |
89 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA396900599 rs762900860 |
89 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA396900613 rs1567499878 |
91 | K>T | No |
ClinGen Ensembl |
|
|
rs768748750 CA8193113 |
92 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA396900630 rs774342945 |
93 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA396900624 rs1567499885 |
93 | D>H | No |
ClinGen Ensembl |
|
|
CA8193115 rs762080942 |
94 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343378480 CA396900656 |
97 | T>P | No |
ClinGen gnomAD |
|
|
rs1273224701 CA396900661 |
98 | I>V | No |
ClinGen gnomAD |
|
|
CA396900687 rs991965495 |
102 | T>S | No |
ClinGen gnomAD |
|
|
rs754914807 CA8193122 |
105 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA285163758 rs377058251 |
107 | S>G | No |
ClinGen ESP TOPMed |
|
|
rs535715020 CA8193125 |
108 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1221783075 CA396900733 |
109 | L>P | No |
ClinGen TOPMed |
|
|
rs1302541413 CA396900730 |
109 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA285163765 rs1018511099 |
110 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1329320173 CA396900754 |
112 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1442300842 CA396901307 |
114 | D>G | No |
ClinGen gnomAD |
|
|
CA285173411 rs982584766 |
115 | S>C | No |
ClinGen Ensembl |
|
|
CA8193157 rs759254874 |
116 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs769715170 CA8193158 |
116 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA285173418 rs907976551 |
118 | D>E | No |
ClinGen TOPMed |
|
|
rs1366864234 CA396901394 |
119 | A>V | No |
ClinGen gnomAD |
|
|
CA396901421 rs1159704518 |
121 | N>I | No |
ClinGen gnomAD |
|
|
rs1362812278 CA396901453 |
123 | L>F | No |
ClinGen gnomAD |
|
|
CA396901462 rs1418211455 |
123 | L>R | No |
ClinGen gnomAD |
|
|
rs1297995347 CA396901475 |
124 | S>C | No |
ClinGen gnomAD |
|
|
rs1297995347 CA396901477 |
124 | S>F | No |
ClinGen gnomAD |
|
|
rs1297995347 CA396901473 |
124 | S>Y | No |
ClinGen gnomAD |
|
|
rs891957284 CA285173419 |
125 | G>A | No |
ClinGen TOPMed |
|
|
CA8193160 rs762411936 |
126 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA396901514 rs1364351670 |
127 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs746090454 CA285173455 |
128 | I>V | No |
ClinGen Ensembl |
|
|
CA8193163 rs761450187 |
130 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA396901579 rs1339421868 |
130 | H>R | No |
ClinGen gnomAD |
|
|
rs751126159 CA8193162 |
130 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396901589 rs1256545269 |
131 | Q>* | No |
ClinGen TOPMed |
|
|
rs61755444 CA396901608 |
133 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61755444 CA8193165 |
133 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396901617 rs1486121479 |
134 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA396901613 rs1280791888 |
134 | M>T | No |
ClinGen gnomAD |
|
|
CA285173522 rs937630857 |
135 | N>H | No |
ClinGen gnomAD |
|
|
rs1337238313 CA396901634 |
137 | S>F | No |
ClinGen TOPMed |
|
|
CA8193172 rs771121259 |
138 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA8193174 rs372085742 |
139 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396901648 rs1376515413 |
140 | T>N | No |
ClinGen gnomAD |
|
|
rs775311990 CA8193177 |
142 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396901657 rs1462345105 |
142 | I>V | No |
ClinGen TOPMed |
|
|
rs773783811 CA8193179 |
143 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193178 rs768646306 |
143 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA396901725 rs1316325819 CA396901724 |
149 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs778718266 CA8193217 |
158 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396901788 rs1275687800 |
159 | N>H | No |
ClinGen TOPMed |
|
|
rs748011545 CA285174775 |
160 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748011545 CA8193218 |
160 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396902865 rs1419307151 |
161 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA285187101 rs777295977 |
162 | S>R | No |
ClinGen gnomAD |
|
|
CA8193246 rs142022471 |
162 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8193247 rs375598204 |
163 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1214602594 CA396902889 |
163 | L>P | No |
ClinGen TOPMed |
|
|
rs766422892 CA8193248 |
164 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA396902912 rs1337019825 |
165 | E>A | No |
ClinGen TOPMed |
|
|
rs1243041169 CA396902923 |
165 | E>D | No |
ClinGen gnomAD |
|
|
rs542611829 CA285187111 |
165 | E>Q | No |
ClinGen Ensembl |
|
|
CA396902917 rs1337019825 |
165 | E>V | No |
ClinGen TOPMed |
|
|
rs1219414299 CA396902984 |
169 | I>M | No |
ClinGen gnomAD |
|
|
CA8193251 rs200464512 |
169 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758235707 CA8193253 |
171 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1193558605 CA396903023 |
172 | L>P | No |
ClinGen gnomAD |
|
|
rs1238251600 CA396903041 |
173 | I>T | No |
ClinGen gnomAD |
|
|
rs751515873 CA8193255 |
174 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176757713 CA396903113 |
177 | V>G | No |
ClinGen gnomAD |
|
|
rs1480706723 CA396903137 |
179 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8193257 rs780839015 |
180 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193260 rs779774477 |
181 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA396903182 rs1567507772 |
186 | K>* | No |
ClinGen Ensembl |
|
|
rs1401199637 CA396903192 |
187 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1555514200 CA396903199 |
188 | V>L | No |
ClinGen Ensembl |
|
|
CA396903216 rs1299209399 |
189 | E>K | No |
ClinGen gnomAD |
|
|
rs1405300879 CA396903234 |
191 | G>A | No |
ClinGen TOPMed |
|
|
CA396903231 rs1324383854 |
191 | G>R | No |
ClinGen TOPMed |
|
|
CA8193305 rs367898185 |
192 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA396903244 rs1567508477 |
193 | H>P | No |
ClinGen Ensembl |
|
|
CA396903247 rs1340605489 |
194 | K>E | No |
ClinGen gnomAD |
|
|
CA8193308 rs375368103 |
194 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372054297 CA396903251 |
194 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774741128 CA8193309 |
196 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1178930140 CA396903269 |
197 | L>F | No |
ClinGen TOPMed |
|
|
rs1489389401 CA396903299 |
201 | Q>E | No |
ClinGen gnomAD |
|
|
rs1567508497 CA396903302 |
201 | Q>L | No |
ClinGen Ensembl |
|
|
rs773199213 CA8193312 |
203 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs773199213 CA396903313 |
203 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8193313 rs760656022 |
204 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs749808298 CA285188898 |
205 | F>S | No |
ClinGen Ensembl |
|
|
rs766231080 CA8193314 |
206 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193316 rs201487295 |
210 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396903377 rs1285578963 |
212 | E>Q | No |
ClinGen TOPMed |
|
|
rs748241063 CA8193346 |
219 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs376192123 CA8193345 |
219 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376192123 CA8193343 |
219 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376192123 CA8193344 |
219 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772362007 CA396906971 |
221 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs777881688 CA8193348 |
222 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746780297 CA8193349 |
223 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA396906985 rs1465646848 |
223 | K>R | No |
ClinGen gnomAD |
|
|
rs770601419 CA8193350 |
225 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA396907001 rs1597370506 |
226 | S>T | No |
ClinGen Ensembl |
|
|
CA8193353 rs769793664 |
227 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762467148 CA8193355 |
230 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs763759934 CA8193356 |
231 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA285204739 rs990783463 |
232 | N>H | No |
ClinGen TOPMed |
|
|
rs760446087 CA8193396 |
233 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs760446087 CA396908066 |
233 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1238767632 CA396908114 |
234 | D>E | No |
ClinGen gnomAD |
|
|
CA396908123 rs1482225861 |
235 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA396908143 rs776055769 |
237 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs763366111 CA8193399 |
237 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776055769 CA8193398 |
237 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA396908163 rs1156637476 |
238 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751540065 CA8193401 |
239 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA285204769 rs924127652 |
240 | A>V | No |
ClinGen TOPMed |
|
|
CA8193402 rs761978474 |
242 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1335504801 CA396908264 |
242 | Y>S | No |
ClinGen TOPMed |
|
|
CA8193403 rs767690499 |
243 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA396908295 rs1567515066 |
244 | H>N | No |
ClinGen Ensembl |
|
|
rs561861182 CA285204784 |
245 | D>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs779818058 CA8193406 |
245 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193407 rs753634019 |
246 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs754812497 CA8193408 |
246 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8193409 rs778931758 |
247 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280094529 CA396908415 |
247 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1328979532 CA396908437 |
248 | R>T | No |
ClinGen TOPMed |
|
|
rs373142398 CA8193410 |
248 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8193413 CA8193412 rs190840748 |
251 | I>L | Familial cold autoinflammatory syndrome 3 (fcas3) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA396908519 rs1459043365 |
251 | I>M | No |
ClinGen gnomAD |
|
|
CA396908544 rs1179390984 |
252 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs745516901 CA8193450 |
256 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292137410 CA396897642 |
256 | E>K | No |
ClinGen TOPMed |
|
|
CA396897651 rs369555285 CA396897652 |
257 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8193452 rs45443101 |
257 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1399808332 CA396897660 |
258 | W>C | No |
ClinGen TOPMed |
|
|
rs1298387430 CA396897658 |
258 | W>L | No |
ClinGen gnomAD |
|
|
rs772517191 CA8193454 |
260 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001137639 CA285123793 |
263 | N>K | No |
ClinGen gnomAD |
|
|
rs747555081 CA8193456 |
264 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs530712899 CA8193457 |
266 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530712899 CA285123798 |
266 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552448947 CA8193458 |
266 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775298566 CA8193461 |
269 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1261209099 CA396897724 |
269 | M>V | No |
ClinGen gnomAD |
|
|
CA8193462 rs762866755 |
271 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396897755 rs1159645057 |
273 | I>T | No |
ClinGen gnomAD |
|
|
CA285123882 rs370148064 |
274 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1157472814 CA396897771 |
275 | D>E | No |
ClinGen gnomAD |
|
|
CA396897784 rs1381969513 |
277 | M>I | No |
ClinGen gnomAD |
|
|
rs1334558205 CA396897781 |
277 | M>T | No |
ClinGen gnomAD |
|
|
rs372494175 CA8193464 |
277 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA285123883 rs988595873 |
278 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA396897789 rs1311187746 |
278 | R>H | No |
ClinGen gnomAD |
|
|
CA285123888 rs1021500745 |
279 | E>A | No |
ClinGen Ensembl |
|
|
rs749902171 CA8193467 |
281 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA8193466 rs767045852 |
281 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA396897806 rs749902171 |
281 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs779592401 CA396897819 |
283 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179653977 CA396897829 |
285 | L>V | No |
ClinGen gnomAD |
|
|
CA8193472 rs142098187 |
286 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396897861 rs1347172351 |
289 | E>D | No |
ClinGen gnomAD |
|
|
CA8193501 rs772003833 |
292 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193500 rs772003833 |
292 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1013353935 CA285126096 |
293 | Y>H | No |
ClinGen TOPMed |
|
|
CA285126116 rs112648604 |
294 | L>M | No |
ClinGen Ensembl |
|
|
rs867804190 CA285126117 |
296 | S>L | No |
ClinGen Ensembl |
|
|
rs370697615 CA285126118 |
297 | R>* | No |
ClinGen TOPMed |
|
|
CA8193503 rs765793763 |
297 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193505 rs544860193 |
300 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764885126 CA8193506 |
300 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1301479472 CA396897945 |
301 | I>V | No |
ClinGen gnomAD |
|
|
CA8193508 rs563152452 |
303 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8193507 rs563152452 |
303 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1567518952 CA396897960 |
303 | D>N | No |
ClinGen Ensembl |
|
|
rs563152452 CA8193509 |
303 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs918438427 CA285126161 |
304 | E>D | No |
ClinGen Ensembl |
|
|
rs750877065 CA8193510 |
304 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA8193511 rs756707033 |
305 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396897994 rs1382212475 |
308 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA396898000 rs768664050 |
309 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs566918317 CA8193514 |
311 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566918317 CA396898015 |
311 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1485492391 CA396898033 |
313 | D>E | No |
ClinGen gnomAD |
|
|
CA8193516 rs748440029 |
313 | D>H | No |
ClinGen ExAC |
|
|
rs748440029 CA396898027 |
313 | D>N | No |
ClinGen ExAC |
|
|
rs372795428 CA396898049 |
315 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1182420382 CA396898047 |
315 | N>S | No |
ClinGen gnomAD |
|
|
rs1384764686 CA396898065 |
318 | L>M | No |
ClinGen gnomAD |
|
|
CA8193519 rs746915998 |
319 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193522 rs759069790 |
324 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA396898469 rs1420881956 |
330 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA396898543 rs1411942106 |
336 | L>P | No |
ClinGen gnomAD |
|
|
CA396898552 rs1164040767 RCV001200601 |
337 | R>Q | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1597113432 CA396898580 |
339 | E>* | No |
ClinGen Ensembl |
|
|
rs1249964143 CA396898617 |
342 | P>L | No |
ClinGen TOPMed |
|
|
CA396898636 rs1199800650 |
344 | A>T | No |
ClinGen TOPMed |
|
|
CA396898650 rs1597113444 RCV000996352 |
345 | Y>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs781016626 CA8193557 |
347 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA396898721 rs1272100050 |
350 | R>C | No |
ClinGen gnomAD |
|
|
rs1334682825 CA396898737 |
351 | M>I | No |
ClinGen TOPMed |
|
|
CA396898735 rs1318863813 |
351 | M>T | No |
ClinGen gnomAD |
|
|
rs918993653 CA285129143 |
351 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs963539597 CA285129151 |
354 | R>C | No |
ClinGen Ensembl |
|
|
CA396898772 rs1374066580 |
356 | I>M | No |
ClinGen gnomAD |
|
|
CA285129152 rs938552273 |
357 | E>Q | No |
ClinGen TOPMed |
|
|
rs1204045259 CA396898916 |
360 | C>R | No |
ClinGen TOPMed |
|
|
CA396898939 rs1364308657 |
363 | G>R | No |
ClinGen gnomAD |
|
|
rs746689563 CA8193601 |
364 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775728338 CA396898950 |
365 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775728338 CA8193603 |
365 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775728338 CA396898951 |
365 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749734126 CA8193604 |
367 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1391791302 CA396898980 |
369 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs767619179 CA8193608 |
375 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs766133588 CA8193611 |
376 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766133588 CA396899025 |
376 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1143688 CA396899078 |
383 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396899084 rs752223289 |
384 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752223289 CA8193615 |
384 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193618 rs746612517 |
385 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs777445397 CA8193617 |
385 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777445397 CA285132004 |
385 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396899090 rs769180169 |
386 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8193622 rs769180169 |
386 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1462253450 CA396899100 |
387 | Q>H | No |
ClinGen gnomAD |
|
|
rs1015688820 CA285132061 |
390 | K>E | No |
ClinGen TOPMed |
|
|
CA396899118 rs1299673582 |
390 | K>R | No |
ClinGen gnomAD |
|
|
rs1597115127 CA396899127 |
391 | D>G | No |
ClinGen Ensembl |
|
|
rs1437321355 CA396899131 |
392 | H>Y | No |
ClinGen TOPMed |
|
|
CA8193627 rs760949449 |
393 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA8193628 rs760949449 |
393 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA396899150 rs776466361 |
395 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA8193629 rs776466361 |
395 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1207370509 CA396899159 |
396 | T>I | No |
ClinGen TOPMed |
|
|
CA285138520 rs868333181 |
400 | P>L | No |
ClinGen Ensembl |
|
|
CA396899212 rs1305604406 |
402 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA396899230 rs746020068 |
405 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775409619 CA396899245 |
407 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA285138551 rs1004596030 |
408 | H>Q | No |
ClinGen Ensembl |
|
|
rs749141151 CA8193673 |
410 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA396899271 rs1490470559 |
411 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1490470559 CA396899269 |
411 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs774111706 CA8193675 |
415 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA396899320 rs1200235855 |
417 | M>I | No |
ClinGen gnomAD |
|
|
rs1482735473 CA396899314 |
417 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs867891510 CA285138604 |
418 | A>T | No |
ClinGen Ensembl |
|
|
rs1259583971 CA396899349 |
422 | K>E | No |
ClinGen TOPMed |
|
|
CA8193678 rs772847758 |
423 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA285138617 rs996161733 |
423 | E>K | No |
ClinGen TOPMed |
|
|
CA396899372 rs1166280990 |
425 | F>C | No |
ClinGen gnomAD |
|
|
rs780141402 CA8193682 |
427 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222727423 CA396899393 |
429 | L>V | No |
ClinGen TOPMed |
|
|
rs367678289 CA8193683 |
431 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367678289 CA8193684 |
431 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1284209416 CA396899414 |
432 | K>N | No |
ClinGen TOPMed |
|
|
CA8193685 rs757785924 |
434 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745999784 CA8193687 |
435 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1225918799 CA396899434 |
436 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs200137340 CA396899441 |
437 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749548361 CA8193690 |
443 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA396899494 rs1198724568 |
445 | S>N | No |
ClinGen gnomAD |
|
|
rs774205271 CA8193692 |
445 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193693 rs748033964 |
447 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA8193695 rs772575043 |
448 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943070719 CA285138730 |
449 | E>G | No |
ClinGen Ensembl |
|
|
CA396899529 rs1424969556 |
451 | I>V | No |
ClinGen gnomAD |
|
|
CA8193741 rs778484571 |
461 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193742 rs3935625 |
461 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs3935625 CA285146829 |
461 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758552501 CA396899625 |
463 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752906992 CA8193746 |
463 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396899621 rs752906992 |
463 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777539665 CA8193748 |
464 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs898932513 CA285146900 |
470 | D>E | No |
ClinGen Ensembl |
|
|
rs1445531960 CA396899675 |
470 | D>G | No |
ClinGen TOPMed |
|
|
CA396899671 rs1434900457 |
470 | D>N | No |
ClinGen gnomAD |
|
|
rs751412152 CA8193750 |
471 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1376898032 CA396899688 |
472 | K>T | No |
ClinGen gnomAD |
|
|
CA285146942 rs867345397 |
474 | E>K | No |
ClinGen TOPMed |
|
|
CA396899701 rs867345397 |
474 | E>Q | No |
ClinGen TOPMed |
|
|
CA285146945 rs925017425 |
475 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs745821022 CA8193753 |
477 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA396899741 rs1389072647 |
479 | G>A | No |
ClinGen gnomAD |
|
|
rs1368889160 CA396899737 |
479 | G>R | No |
ClinGen gnomAD |
|
|
CA8193756 rs779440937 |
481 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396899763 rs773692366 |
483 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA8193758 rs773692366 |
483 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs771454800 CA396899780 |
485 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8193760 rs771454800 |
485 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1436215043 CA396899828 |
490 | K>Q | No |
ClinGen TOPMed |
|
|
CA396899850 rs1368273226 |
492 | T>I | No |
ClinGen TOPMed |
|
|
rs1311449666 CA396899869 |
495 | Y>* | No |
ClinGen gnomAD |
|
|
rs780384058 CA8193802 |
495 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1449583985 CA396899885 |
498 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762012909 CA8193806 |
500 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA396899901 rs1257978139 |
500 | D>V | No |
ClinGen TOPMed |
|
|
CA285150094 rs199761977 |
502 | K>E | No |
ClinGen Ensembl |
|
|
rs753771037 CA8193812 |
509 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396899960 rs1255609965 |
509 | I>V | No |
ClinGen gnomAD |
|
|
CA396899966 rs1356194786 |
510 | E>K | No |
ClinGen TOPMed |
|
|
rs1410420295 CA396899973 |
511 | Q>E | No |
ClinGen gnomAD |
|
|
rs1456984687 CA396899978 |
511 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1290020542 CA396899990 |
513 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA396899987 rs1348992625 |
513 | M>K | No |
ClinGen TOPMed |
|
|
rs764836810 CA8193815 |
513 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs764836810 CA8193814 |
513 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs758045517 CA8193816 |
515 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968560555 CA285150161 |
516 | E>K | No |
ClinGen Ensembl |
|
|
CA396900015 rs1597123529 |
517 | V>M | No |
ClinGen Ensembl |
|
|
CA285150163 rs1031437038 |
518 | P>L | No |
ClinGen TOPMed |
|
|
CA8193817 rs777330343 |
519 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs201391996 CA8193856 |
520 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001311456 rs1909472222 |
521 | I>V | No |
ClinVar dbSNP |
|
|
CA396900061 rs1231256206 |
522 | P>S | No |
ClinGen TOPMed |
|
|
rs574435526 CA8193860 |
523 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8193862 rs556662120 |
524 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396900081 rs1567527440 |
526 | L>I | No |
ClinGen Ensembl |
|
|
rs1013382788 CA285151144 |
529 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1013382788 CA396900103 |
529 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs769654037 CA8193865 |
529 | G>W | No |
ClinGen ExAC |
|
|
rs775355899 CA8193866 |
530 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA285151160 rs200736474 |
531 | K>E | No |
ClinGen TOPMed |
|
|
CA285151171 rs896284551 |
533 | F>L | No |
ClinGen TOPMed |
|
|
CA8193868 rs375195776 |
534 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs967580932 CA285151172 |
535 | K>R | No |
ClinGen Ensembl |
|
|
CA285151174 rs1012493204 |
536 | K>E | No |
ClinGen TOPMed |
|
|
rs778586506 CA285151180 |
539 | K>N | No |
ClinGen gnomAD |
|
|
rs761349301 CA8193870 |
539 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA285151186 rs11548657 VAR_047427 |
541 | T>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs767040629 CA8193871 |
541 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA285151206 rs926237449 |
544 | E>K | No |
ClinGen gnomAD |
|
|
CA396900199 rs926237449 |
544 | E>Q | No |
ClinGen gnomAD |
|
|
rs1597124121 CA396900243 |
550 | Y>H | No |
ClinGen Ensembl |
|
|
CA8193875 rs753164675 |
550 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1597124132 CA396900254 |
551 | C>Y | No |
ClinGen Ensembl |
|
|
rs1245591089 CA396900259 |
552 | M>K | No |
ClinGen gnomAD |
|
|
rs1245591089 CA396900260 |
552 | M>T | No |
ClinGen gnomAD |
|
|
CA8193877 rs764701080 |
552 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs752037474 CA8193878 |
553 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs757363172 CA8193879 |
553 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA285151227 rs781434235 |
554 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781434235 CA8193880 |
554 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756467302 CA396900275 CA8193882 |
555 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567527514 CA396900283 |
556 | G>A | No |
ClinGen Ensembl |
|
|
CA396900280 rs779697226 |
556 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779697226 CA8193883 |
556 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193884 rs749154214 |
557 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8193886 rs778864201 |
558 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396900320 rs1235199226 |
562 | L>V | No |
ClinGen gnomAD |
|
|
CA8193890 rs760308218 |
567 | E>K | No |
ClinGen ExAC |
|
|
rs775689150 CA8193892 |
573 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1250245178 CA396900407 |
575 | L>P | No |
ClinGen gnomAD |
|
|
rs909418452 CA285151387 |
576 | S>F | No |
ClinGen TOPMed |
|
|
rs1344357292 CA396900410 |
576 | S>P | No |
ClinGen TOPMed |
|
|
CA285151399 rs147406608 |
577 | F>L | No |
ClinGen Ensembl |
|
|
rs1369745419 CA396900778 |
579 | R>L | No |
ClinGen gnomAD |
|
|
rs1369745419 CA396900776 |
579 | R>Q | No |
ClinGen gnomAD |
|
|
rs200325678 CA285153697 |
582 | R>Q | No |
ClinGen gnomAD |
|
|
rs1339374297 CA396900792 |
582 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA8193933 rs773800539 |
589 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8193934 rs761094228 |
589 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs766479642 CA8193935 |
591 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA285153719 rs887419029 |
592 | M>V | No |
ClinGen gnomAD |
|
|
rs765485488 CA8193938 |
594 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs759783310 CA8193937 |
594 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs763889187 CA8193941 |
595 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA396900876 rs1394140728 |
596 | T>A | No |
ClinGen gnomAD |
|
|
CA396900878 rs757207696 |
596 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757207696 CA8193943 |
596 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs745414766 CA8193945 |
601 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1044114273 CA396900928 |
604 | N>D | No |
ClinGen Ensembl |
|
|
rs1044114273 CA285153772 |
604 | N>H | No |
ClinGen Ensembl |
|
|
CA8193946 rs755757354 |
604 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA396900935 rs1003077830 |
605 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1003077830 CA285153790 |
605 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA396900943 rs1221944809 |
606 | T>N | No |
ClinGen TOPMed |
|
|
rs1597125760 CA396900939 |
606 | T>P | No |
ClinGen Ensembl |
|
|
rs772501660 CA8193949 |
609 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8193950 rs773782479 |
609 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA396900999 rs771390562 |
614 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1338509407 CA396901002 |
615 | Q>* | No |
ClinGen TOPMed |
|
|
rs1288796128 CA396901004 |
615 | Q>R | No |
ClinGen TOPMed |
|
|
CA8193953 rs776742031 |
616 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1597125797 CA396901018 |
617 | Y>S | No |
ClinGen Ensembl |
|
|
rs769887285 CA8193955 |
618 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8193957 rs763166039 |
619 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396901045 rs1380649546 |
621 | H>Q | No |
ClinGen gnomAD |
|
|
CA396901043 rs1303101447 |
621 | H>R | No |
ClinGen gnomAD |
|
|
CA8193959 rs761784440 |
621 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750403828 CA8193961 |
623 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA396901065 rs1009796025 |
625 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1009796025 CA285153907 |
625 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8193963 rs779718500 |
625 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA285153948 rs778265649 |
628 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235634045 CA396901092 |
629 | L>Q | No |
ClinGen TOPMed |
|
|
CA8193968 rs771359979 |
630 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747373917 CA8193967 |
630 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565010144 CA8193969 |
632 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565010144 CA396901108 |
632 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597125872 CA396901112 |
633 | D>A | No |
ClinGen Ensembl |
|
|
CA396901115 rs1305847899 |
633 | D>E | No |
ClinGen TOPMed |
|
|
rs769795617 CA8193972 |
634 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8193971 rs769795617 |
634 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA396901131 rs1597125888 |
636 | P>L | No |
ClinGen Ensembl |
|
|
CA8193973 rs763144038 |
636 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA396901137 rs1277723791 |
637 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8193977 rs767364820 |
638 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA396901150 rs1350397879 |
639 | N>K | No |
ClinGen gnomAD |
|
|
CA285154002 rs377753289 |
639 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8193979 rs760763002 |
640 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs573799583 CA396901156 |
641 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573799583 CA8193981 |
641 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754649688 CA8193982 |
641 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs367884906 CA285154029 |
642 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA396901162 rs367884906 |
642 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1567528696 CA396901174 |
643 | S>C | No |
ClinGen Ensembl |
|
|
rs757508918 CA8193985 |
644 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA396901183 rs1172659699 |
645 | P>A | No |
ClinGen gnomAD |
|
|
CA8194021 rs751244429 |
647 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194023 rs766742207 |
648 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA8194024 rs754274096 |
652 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs755569519 CA8194025 |
653 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1325870340 CA396901258 |
653 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396901261 rs1295648437 |
654 | G>R | No |
ClinGen gnomAD |
|
|
CA396901302 rs1298589914 |
658 | D>G | No |
ClinGen TOPMed |
|
|
CA396901316 rs1252896670 |
659 | M>T | No |
ClinGen Ensembl |
|
|
rs1188247077 CA396901337 |
661 | M>T | No |
ClinGen gnomAD |
|
|
CA8194029 rs778096311 |
661 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA396901352 rs1202954972 |
662 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8194031 rs770786129 |
663 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs745784908 CA8194034 CA396901393 |
666 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194035 rs774828108 |
667 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396901397 rs774828108 |
667 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190118926 CA396901408 |
668 | A>D | No |
ClinGen TOPMed |
|
|
CA396901405 rs1567529714 |
668 | A>T | No |
ClinGen Ensembl |
|
|
rs1190118926 CA396901411 |
668 | A>V | No |
ClinGen TOPMed |
|
|
CA8194037 rs768072868 |
671 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468421212 CA396901446 |
672 | R>Q | No |
ClinGen gnomAD |
|
|
CA396901444 rs1389052360 |
672 | R>W | No |
ClinGen gnomAD |
|
|
rs761458296 CA8194039 |
673 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA396901465 rs1271283443 |
674 | R>* | No |
ClinGen Ensembl |
|
|
CA396901483 rs373752237 |
675 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs766717978 CA8194040 |
675 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396901486 rs1220318578 |
676 | G>R | No |
ClinGen TOPMed |
|
|
CA8194041 rs754251415 |
677 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194044 rs374768937 |
679 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396901823 rs770193044 |
687 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194078 rs770193044 |
687 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396901841 rs1382275823 |
690 | V>L | No |
ClinGen gnomAD |
|
|
rs370718047 CA8194080 |
692 | H>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA396901867 rs1226544964 |
693 | C>S | No |
ClinGen gnomAD |
|
|
rs1336595726 CA396901872 |
694 | R>H | No |
ClinGen gnomAD |
|
|
CA396901874 rs1336595726 |
694 | R>L | No |
ClinGen gnomAD |
|
|
CA285164694 rs374334218 |
695 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs763556693 CA285164699 |
697 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767717794 CA8194084 |
697 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194086 rs767717794 |
697 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763556693 CA8194083 |
697 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396901895 rs143195637 |
698 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396901890 rs1400106416 |
698 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8194088 rs753618006 |
699 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753618006 CA8194089 |
699 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA285164724 rs773857524 |
699 | G>V | No |
ClinGen Ensembl |
|
|
CA396901899 rs778773333 |
700 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs778773333 CA8194090 |
700 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA396901903 rs757839862 |
701 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194093 rs777219718 |
701 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757839862 CA8194092 |
701 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194095 rs746663346 |
702 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746663346 CA8194094 |
702 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396901921 rs1432762755 |
704 | L>V | No |
ClinGen TOPMed |
|
|
rs1381167403 CA396901944 |
708 | A>S | No |
ClinGen gnomAD |
|
|
rs1381167403 CA396901942 |
708 | A>T | No |
ClinGen gnomAD |
|
|
rs769161044 CA8194098 |
711 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs999363463 CA285164748 |
711 | E>Q | No |
ClinGen TOPMed |
|
|
rs1477576619 CA396901985 |
714 | V>M | No |
ClinGen TOPMed |
|
|
CA8194100 rs762414923 |
717 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396902010 rs1233473968 |
718 | S>T | No |
ClinGen gnomAD |
|
|
rs375200129 CA285164783 |
722 | K>N | No |
ClinGen ESP TOPMed |
|
|
rs754112976 CA8194105 |
723 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV001311457 rs1909979385 |
725 | L>F | No |
ClinVar dbSNP |
|
|
rs1226220869 CA396902061 |
725 | L>P | No |
ClinGen TOPMed |
|
|
CA8194106 rs759269946 |
726 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs369516453 CA8194107 |
727 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396902088 rs1160757509 |
729 | M>I | No |
ClinGen gnomAD |
|
|
CA285164819 rs1005692740 |
730 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8194110 rs777318757 |
730 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1412800025 CA396902106 |
733 | Y>H | No |
ClinGen gnomAD |
|
|
rs1597132281 CA396902109 |
733 | Y>S | No |
ClinGen Ensembl |
|
|
CA8194113 rs199516791 |
734 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs963117904 CA285164848 |
735 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8194116 rs779487061 |
736 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748649938 CA285164857 |
737 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA285164866 rs750799204 |
738 | E>D | No |
ClinGen Ensembl |
|
|
CA396902155 rs1249495494 |
741 | E>V | No |
ClinGen gnomAD |
|
|
rs756480279 CA8194123 |
742 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284780663 CA396902169 |
744 | N>H | No |
ClinGen TOPMed |
|
|
CA396902177 rs1418192806 |
745 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8194153 rs774085526 |
747 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1274637724 CA396902213 |
748 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs761876435 CA8194154 |
749 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194155 rs374154653 |
751 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758623675 CA8194160 |
755 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778269182 CA8194161 |
757 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA8194162 rs368910187 |
762 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396902336 rs1323172031 |
765 | I>M | No |
ClinGen gnomAD |
|
|
CA396902340 rs1345789580 |
766 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8194163 rs757834798 |
767 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA285169185 rs541206472 |
769 | M>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1429989497 CA396902356 |
769 | M>V | No |
ClinGen TOPMed |
|
|
rs965775108 CA285172098 |
772 | R>G | No |
ClinGen Ensembl |
|
|
rs1409649312 CA396902399 |
773 | T>N | No |
ClinGen TOPMed |
|
|
rs762658251 CA8194226 |
774 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs750835143 CA396902413 |
775 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142825971 CA396902410 |
775 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761138102 CA8194229 |
776 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181588253 CA285172143 |
777 | L>V | No |
ClinGen 1000Genomes |
|
|
CA396902437 rs1487567974 |
779 | D>E | No |
ClinGen gnomAD |
|
|
rs1193617384 CA396902448 |
781 | K>E | No |
ClinGen gnomAD |
|
|
CA396902470 rs1567534502 |
784 | R>* | No |
ClinGen Ensembl |
|
|
rs1476399695 CA396902471 |
784 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs185307548 CA285172201 |
785 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8194233 rs778927156 |
787 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA396902520 rs1290166745 |
791 | C>Y | No |
ClinGen gnomAD |
|
|
CA8194234 rs202210217 |
792 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758744962 CA8194235 |
794 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA396902542 rs1357062302 |
795 | L>H | No |
ClinGen gnomAD |
|
|
rs748644186 CA8194236 |
795 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194239 rs781130389 |
799 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487353613 CA396902598 |
803 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396902600 CA396902599 rs1216454496 |
804 | G>R | No |
ClinGen gnomAD |
|
|
rs1216454496 CA396902601 |
804 | G>W | No |
ClinGen gnomAD |
|
|
rs774022650 CA8194245 |
806 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1201554581 CA396902651 |
809 | G>E | No |
ClinGen TOPMed |
|
|
rs1200986657 CA396902661 |
810 | D>E | No |
ClinGen gnomAD |
|
|
rs1255722553 CA396902667 |
811 | Y>F | No |
ClinGen gnomAD |
|
|
CA396902691 rs1224304989 |
815 | I>V | No |
ClinGen TOPMed |
|
|
CA396902704 rs1476765154 |
817 | Q>K | No |
ClinGen gnomAD |
|
|
rs866339098 CA285177348 |
820 | P>S | No |
ClinGen Ensembl |
|
|
rs746172717 CA396902742 |
822 | N>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000788376 rs746172717 CA8194283 |
822 | N>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA8194285 rs776078043 |
824 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768839912 CA8194287 |
825 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396902770 rs1351631192 |
826 | D>G | No |
ClinGen gnomAD |
|
|
CA396902767 rs1337003146 |
826 | D>H | No |
ClinGen TOPMed |
|
|
CA396902785 rs1473115538 |
828 | S>* | No |
ClinGen gnomAD |
|
|
CA396902781 rs1417603822 |
828 | S>T | No |
ClinGen gnomAD |
|
|
CA8194290 rs767593863 |
829 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA285177383 rs1044963463 |
830 | A>E | No |
ClinGen Ensembl |
|
|
rs1166796739 CA396902791 |
830 | A>T | No |
ClinGen TOPMed |
|
|
CA396902803 rs1291655211 |
831 | D>E | No |
ClinGen gnomAD |
|
|
rs1317695853 CA396902797 |
831 | D>H | No |
ClinGen gnomAD |
|
|
rs1233460268 CA396902800 |
831 | D>V | No |
ClinGen gnomAD |
|
|
rs754958154 CA8194295 |
834 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186829827 CA396902825 |
835 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8194298 rs757951304 |
836 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA285177459 rs115583707 |
838 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs970985218 CA285179365 |
839 | I>V | No |
ClinGen Ensembl |
|
|
CA285179367 rs1034549111 |
842 | D>E | No |
ClinGen TOPMed |
|
|
CA8194338 rs767227331 |
843 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs779400707 CA8194341 |
847 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs779400707 CA396902973 |
847 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA285179407 rs989485214 |
852 | I>V | No |
ClinGen Ensembl |
|
|
CA396903050 rs1237574945 |
854 | D>G | No |
ClinGen gnomAD |
|
|
rs1391752533 CA396903071 |
856 | N>S | No |
ClinGen TOPMed |
|
|
CA396903086 rs1376500578 |
857 | T>I | No |
ClinGen gnomAD |
|
|
CA285179420 rs778175100 |
858 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194344 rs778175100 |
858 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194346 rs370187601 |
860 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs559219743 CA285179430 |
861 | V>L | Familial cold autoinflammatory syndrome 3 (fcas3) [Ensembl] | No |
ClinGen gnomAD |
|
CA8194375 rs760133960 |
863 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs766006428 CA396903439 |
863 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396903444 rs1367322376 |
864 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396903448 rs1458178159 |
865 | Q>* | No |
ClinGen TOPMed |
|
|
rs11548655 CA285182573 |
866 | G>E | No |
ClinGen Ensembl |
|
|
CA8194377 rs767599145 |
867 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396903473 CA396903472 RCV000493156 rs1131691537 |
868 | N>K | No |
ClinGen TOPMed ClinVar dbSNP |
|
|
rs764507005 CA8194379 |
870 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396903494 rs1159159204 |
871 | S>F | No |
ClinGen Ensembl |
|
|
rs375364337 CA285182625 |
875 | I>S | No |
ClinGen ESP |
|
|
rs745530921 CA285182630 |
877 | E>G | No |
ClinGen Ensembl |
|
|
rs1273186870 CA396903538 |
878 | P>R | No |
ClinGen Ensembl |
|
|
CA8194381 rs757806779 |
879 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA285182657 rs3189935 |
880 | Q>E | No |
ClinGen Ensembl |
|
|
rs547100313 CA8194382 |
880 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1310859330 CA396903563 |
882 | G>S | No |
ClinGen gnomAD |
|
|
CA396903567 rs17856213 |
883 | D>N | No |
ClinGen TOPMed |
|
|
VAR_047428 CA285182673 rs17856213 |
883 | D>Y | No |
ClinGen UniProt TOPMed dbSNP |
|
|
CA8194385 rs780267956 |
884 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8194387 rs768495444 |
885 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs199703276 CA8194388 |
885 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396903600 rs1164126936 |
886 | V>A | No |
ClinGen TOPMed |
|
|
CA396903604 rs1179741687 |
887 | E>K | No |
ClinGen gnomAD |
|
|
CA396903625 rs1191233373 |
888 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1461915498 CA396903631 |
889 | A>S | No |
ClinGen Ensembl |
|
|
rs1377971957 CA396903640 |
890 | T>S | No |
ClinGen gnomAD |
|
|
CA8194393 rs770349960 |
891 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs776340676 CA8194394 |
892 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA8194397 rs764416980 |
895 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs538170950 CA8194398 |
896 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs962919070 CA285182739 |
903 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA396903871 rs1302659713 |
910 | I>T | No |
ClinGen gnomAD |
|
|
CA8194402 rs369704658 |
913 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA396904512 rs1268930629 |
920 | W>* | No |
ClinGen gnomAD |
|
|
rs781216891 CA8194429 |
923 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA396904620 rs769310647 |
928 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA285185917 rs891495218 |
928 | I>V | No |
ClinGen Ensembl |
|
|
rs775060308 CA8194432 |
929 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA396904686 rs772415250 |
934 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs772415250 CA8194434 |
934 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs73598710 CA285185938 |
934 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1263902656 CA396904773 |
941 | S>N | No |
ClinGen gnomAD |
|
|
CA8194436 rs761214285 |
943 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA396904803 rs771302628 |
943 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194437 rs771302628 |
943 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777208551 CA8194438 |
944 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1475184969 CA396904832 |
945 | D>E | No |
ClinGen gnomAD |
|
|
CA396904828 rs1597142352 |
945 | D>V | No |
ClinGen Ensembl |
|
|
CA8194458 rs769969629 |
948 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs775749323 CA8194459 |
949 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA396905536 rs1474988760 |
950 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA396905540 rs1163645679 |
950 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA396905541 rs1163645679 |
950 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396905575 rs1278946830 |
953 | R>* | No |
ClinGen gnomAD |
|
|
rs1278946830 CA396905573 |
953 | R>G | No |
ClinGen gnomAD |
|
|
CA8194460 rs763152440 |
953 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396905585 rs1278262039 |
954 | E>K | No |
ClinGen TOPMed |
|
|
CA8194462 rs376030995 |
956 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8194465 rs750349959 |
961 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs779509291 CA8194467 |
963 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs377084065 CA8194469 |
964 | D>E | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA8194470 rs778362699 |
965 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1468901406 CA396905706 |
966 | I>L | No |
ClinGen gnomAD |
|
|
CA396905709 rs1468901406 |
966 | I>V | No |
ClinGen gnomAD |
|
|
CA8194472 rs775483165 |
967 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396905778 rs1597143581 |
972 | V>A | No |
ClinGen Ensembl |
|
|
rs369090249 CA8194477 |
972 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8194480 rs762156095 |
973 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA8194481 rs767195651 |
973 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs568724894 CA8194479 |
973 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568724894 CA285187987 |
973 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239554317 CA396905805 |
974 | L>F | No |
ClinGen TOPMed |
|
|
CA396905820 rs1320061521 |
975 | L>V | No |
ClinGen gnomAD |
|
|
rs760494419 CA8194483 |
976 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766257223 CA8194484 |
978 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1001549363 CA396905869 |
979 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1001549363 CA285188055 |
979 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs753778400 CA8194485 |
979 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA396905898 rs1381141228 |
981 | G>C | No |
ClinGen TOPMed |
|
|
rs1204067258 CA396905902 |
981 | G>V | No |
ClinGen Ensembl |
|
|
CA396905943 rs1446388532 |
985 | V>A | No |
ClinGen gnomAD |
|
|
rs1344633278 CA396905980 |
988 | K>N | No |
ClinGen gnomAD |
|
|
CA8194494 rs749876781 |
989 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA8194496 rs768608252 |
990 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194495 rs768608252 |
990 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194500 rs760406151 |
998 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8194499 rs773444784 |
998 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194504 rs543020496 |
1000 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA285188128 rs977656147 |
1002 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs763777636 CA8194508 |
1004 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA8194510 rs780624828 |
1009 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA396906212 rs1420258193 |
1010 | V>A | No |
ClinGen gnomAD |
|
|
CA8194511 rs749739675 |
1014 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8194512 rs755551138 |
1016 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384265381 CA396906283 |
1017 | A>P | No |
ClinGen gnomAD |
|
|
rs746139863 CA8194554 |
1021 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA396906631 rs1317953673 |
1021 | M>V | No |
ClinGen gnomAD |
|
|
rs1230700653 CA396906644 |
1022 | Q>H | No |
ClinGen gnomAD |
|
|
CA396906661 rs755927399 |
1024 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1052552095 CA285192134 |
1024 | N>S | No |
ClinGen Ensembl |
|
|
rs1307795157 CA396906664 |
1025 | H>Y | No |
ClinGen TOPMed |
|
|
CA396906668 rs774452862 |
1026 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs774452862 CA285192152 |
1026 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA8194559 rs774452862 |
1026 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs71400186 CA285192175 |
1028 | F>V | No |
ClinGen Ensembl |
|
|
CA396906691 rs1230237645 |
1029 | S>F | No |
ClinGen TOPMed |
|
|
rs1428917927 CA396906705 |
1032 | G>R | No |
ClinGen gnomAD |
|
|
rs376667295 CA8194562 |
1033 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8194563 rs760293225 |
1033 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA396906718 rs563473638 |
1034 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1018557252 CA285192217 |
1036 | Y>F | No |
ClinGen Ensembl |
|
|
rs114262189 CA285192258 |
1042 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8194574 rs780458908 |
1046 | E>D | No |
ClinGen ExAC |
|
|
CA8194575 rs749044102 |
1047 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA8194579 rs771587263 |
1051 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs769752160 CA285192336 |
1052 | P>R | No |
ClinGen Ensembl |
|
|
rs1188522392 CA396906837 |
1052 | P>S | No |
ClinGen gnomAD |
|
|
rs1188522392 CA396906835 |
1052 | P>T | No |
ClinGen gnomAD |
|
|
CA8194580 rs772636178 |
1053 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776275991 CA8194583 |
1055 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA285192379 rs916736155 |
1056 | Q>K | No |
ClinGen Ensembl |
|
|
CA396906876 rs1195283111 |
1058 | K>R | No |
ClinGen Ensembl |
|
|
rs774823162 CA8194586 |
1059 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA396906897 rs1268120894 |
1061 | M>I | No |
ClinGen gnomAD |
|
|
CA396906893 rs1432382521 |
1061 | M>L | No |
ClinGen gnomAD |
|
|
CA8194592 rs766651721 |
1064 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766651721 CA8194591 |
1064 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375154673 CA8194637 |
1068 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396907279 rs375154673 |
1068 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8194639 rs779506592 |
1069 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs749036849 CA8194640 |
1070 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758678624 CA8194641 |
1071 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8194642 rs778251162 |
1071 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1281168045 CA396907324 |
1072 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396907354 rs1341635199 |
1074 | P>L | No |
ClinGen gnomAD |
|
|
CA396907345 rs1251907986 |
1074 | P>T | No |
ClinGen gnomAD |
|
|
CA396907379 rs1490608295 |
1076 | L>H | No |
ClinGen gnomAD |
|
|
CA396907372 rs1272977976 |
1076 | L>I | No |
ClinGen gnomAD |
|
|
rs1272977976 CA396907374 |
1076 | L>V | No |
ClinGen gnomAD |
|
|
rs891516801 CA285193739 |
1078 | R>Q | No |
ClinGen Ensembl |
|
|
rs771514165 CA8194647 |
1079 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771514165 CA8194648 |
1079 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA285193762 rs747179742 |
1080 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8194649 rs745876910 |
1080 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1474179534 CA396907451 |
1082 | C>Y | No |
ClinGen gnomAD |
|
|
rs1567541866 CA396907491 |
1085 | V>I | No |
ClinGen Ensembl |
|
|
CA396907562 rs1427209985 |
1090 | C>Y | No |
ClinGen gnomAD |
|
|
CA8194655 rs761622324 |
1093 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs374901017 CA285193804 |
1094 | Y>C | No |
ClinGen gnomAD |
|
|
rs374901017 CA396907589 |
1094 | Y>F | No |
ClinGen gnomAD |
|
|
rs1130733 CA285193824 |
1095 | D>G | No |
ClinGen Ensembl |
|
|
rs1269692395 CA396907600 |
1096 | N>D | No |
ClinGen gnomAD |
|
|
CA396907654 rs1225371450 |
1100 | K>* | No |
ClinGen gnomAD |
|
|
rs755617580 CA8194659 |
1101 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1263457484 CA396907696 |
1102 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA8194661 rs753411378 |
1102 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA396907723 rs904052522 |
1103 | V>F | No |
ClinGen Ensembl |
|
|
CA285193873 rs904052522 |
1103 | V>I | No |
ClinGen Ensembl |
|
|
rs1385319449 CA396907730 |
1104 | V>L | No |
ClinGen gnomAD |
|
|
rs1385319449 CA396907727 |
1104 | V>M | No |
ClinGen gnomAD |
|
|
CA8194688 rs768626706 |
1108 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA8194691 rs771833349 |
1110 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs935810528 CA285194971 |
1114 | A>V | No |
ClinGen gnomAD |
|
|
CA8194694 rs372606303 |
1115 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA285194981 rs957511194 |
1117 | Q>H | No |
ClinGen TOPMed |
|
|
CA396908359 rs1193514492 |
1117 | Q>L | No |
ClinGen TOPMed |
|
|
rs759080582 CA8194696 |
1119 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1371594538 CA396908469 |
1122 | F>L | No |
ClinGen gnomAD |
|
|
rs764898041 CA8194697 |
1122 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1057519243 RCV000416102 CA16043893 |
1122 | F>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA285194986 rs998096652 |
1125 | Y>H | No |
ClinGen Ensembl |
|
|
rs914989253 CA396908540 |
1126 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs762731399 CA396908543 |
1127 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8194701 rs369259797 |
1127 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762731399 CA8194699 |
1127 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA396908602 rs1003946385 |
1130 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA285195008 rs1017069056 |
1130 | A>V | No |
ClinGen Ensembl |
|
|
CA8194703 rs376734359 |
1131 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1481508581 CA396908650 |
1133 | R>H | No |
ClinGen gnomAD |
|
|
rs748340116 CA8194707 |
1135 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA285195081 rs1042021152 |
1138 | E>G | No |
ClinGen TOPMed |
|
|
CA285195108 rs763369976 |
1140 | D>G | No |
ClinGen Ensembl |
|
|
CA8194711 rs552036893 |
1141 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA285195112 rs958943394 |
1141 | M>T | No |
ClinGen gnomAD |
|
|
rs769393894 CA8194714 |
1144 | D>Y | No |
ClinGen ExAC |
|
|
CA8194715 rs775096760 |
1145 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA396908855 rs1435811437 |
1145 | P>H | No |
ClinGen TOPMed |
|
|
CA8194716 rs762571980 |
1150 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1341320895 CA396909004 |
1156 | K>E | No |
ClinGen gnomAD |
|
|
rs1293657663 CA396909041 |
1158 | V>A | No |
ClinGen gnomAD |
|
|
CA396909035 rs1246639946 |
1158 | V>I | No |
ClinGen gnomAD |
|
|
CA8194719 rs761099902 |
1159 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757380364 CA8194748 |
1162 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA396909621 rs781497956 |
1164 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781497956 CA8194749 |
1164 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194752 rs199571184 |
1165 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372557475 CA8194751 |
1165 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396909624 rs372557475 |
1165 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA285200663 rs374517633 |
1166 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396909667 rs1447212251 |
1168 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1567545409 CA396909695 |
1171 | Y>H | No |
ClinGen Ensembl |
|
|
CA396909711 rs1225675913 |
1172 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1425913844 CA396909714 |
1172 | S>N | No |
ClinGen TOPMed |
|
|
rs747728089 CA8194756 |
1173 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1198540250 CA396909743 |
1174 | D>Y | No |
ClinGen TOPMed |
|
|
CA8194758 rs772932697 |
1178 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1040018594 CA285200727 |
1182 | V>A | No |
ClinGen TOPMed |
|
|
CA8194760 rs759887275 |
1182 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374746148 CA285200728 |
1184 | C>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA396909922 rs763487073 |
1185 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA396909915 rs1403278098 |
1185 | E>G | No |
ClinGen gnomAD |
|
|
CA396909905 rs1177878316 |
1185 | E>K | No |
ClinGen gnomAD |
|
|
rs764693069 CA8194763 |
1187 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8194764 rs751544016 |
1187 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA396909945 rs764693069 |
1187 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1354525679 CA396909960 |
1188 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1287516481 CA396909984 |
1190 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8194781 rs201682723 |
1191 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746134531 CA396898158 |
1191 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396898170 CA396898169 rs767695750 |
1192 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs527970615 CA285204733 |
1193 | E>K | No |
ClinGen Ensembl |
|
|
CA396898183 rs1426368928 |
1194 | E>V | No |
ClinGen gnomAD |
|
|
CA396898186 rs1212266400 |
1195 | E>K | No |
ClinGen TOPMed |
|
|
rs1338237295 CA396898194 |
1196 | L>V | No |
ClinGen TOPMed |
|
|
rs761018891 CA8194785 |
1201 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768299957 CA8194786 |
1201 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194787 rs768299957 |
1201 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396898235 rs1433517299 |
1202 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA285204745 rs994776637 |
1203 | L>V | No |
ClinGen gnomAD |
|
|
CA8194788 rs373686679 |
1206 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8194791 rs757822132 |
1209 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8194793 rs369966847 |
1213 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV001311461 rs1911585372 |
1214 | L>V | No |
ClinVar dbSNP |
|
|
CA8194794 rs770521320 |
1216 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs771989960 CA285204801 |
1218 | D>E | No |
ClinGen TOPMed |
|
|
rs774709681 CA396898348 |
1219 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs774709681 CA8194798 |
1219 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA396898358 rs1410297404 |
1221 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
RCV001092199 rs1455759195 |
1221 | Q>H | No |
ClinVar dbSNP |
|
|
rs1320002846 CA396898378 |
1223 | L>F | No |
ClinGen gnomAD |
|
|
rs199530350 CA8194799 |
1224 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396898380 rs199530350 |
1224 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA285204825 rs1031241354 |
1225 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA285204836 rs547594293 |
1228 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547594293 CA8194803 |
1228 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194802 rs202108152 |
1228 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs542811647 CA285204845 |
1230 | A>D | No |
ClinGen 1000Genomes gnomAD |
|
|
rs989710468 CA285204841 |
1230 | A>T | No |
ClinGen Ensembl |
|
|
rs542811647 CA396898418 |
1230 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA396898424 rs1180101451 |
1232 | V>I | No |
ClinGen gnomAD |
|
|
rs765126381 CA8194807 |
1233 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA396898433 rs1458609437 |
1233 | K>T | No |
ClinGen Ensembl |
|
|
CA396898440 rs1332140540 |
1234 | E>A | No |
ClinGen TOPMed |
|
|
CA8194808 rs752542504 |
1234 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396898438 rs1567549863 |
1234 | E>Q | No |
ClinGen Ensembl |
|
|
rs1414406167 CA396898458 |
1235 | F>L | No |
ClinGen gnomAD |
|
|
rs1471753383 CA396898505 |
1239 | E>K | No |
ClinGen gnomAD |
|
|
rs773291650 CA285204870 |
1240 | N>K | No |
ClinGen gnomAD |
|
|
rs1406944158 CA396898541 |
1241 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1401906238 CA396898574 |
1243 | Q>* | No |
ClinGen gnomAD |
|
|
rs764040645 CA8194810 |
1243 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8194812 rs756762647 |
1244 | L>Q | No |
ClinGen ExAC |
|
|
CA285204880 rs1023329424 |
1246 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8194815 rs755277384 |
1247 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA285204900 rs867313284 |
1248 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA396898669 rs1480934212 |
1249 | C>R | No |
ClinGen gnomAD |
|
|
rs368482871 CA8194816 |
1251 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8194852 rs749901104 |
1254 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs985122334 CA285205679 |
1255 | E>Q | No |
ClinGen gnomAD |
|
|
rs760119872 CA8194853 |
1256 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1246671039 CA396898823 |
1256 | K>R | No |
ClinGen gnomAD |
|
|
CA8194854 rs532681072 |
1258 | V>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA396898842 rs1193899762 |
1259 | S>T | No |
ClinGen TOPMed |
|
|
rs758825034 CA8194856 |
1260 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323851944 CA396898896 |
1266 | S>Y | No |
ClinGen TOPMed |
2 associated diseases with P16885
[MIM: 614468]: Familial cold autoinflammatory syndrome 3 (FCAS3)
An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B-cells, defective B-cells, increased susceptibility to infection, and increased risk of autoimmune disorders. . Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 614878]: Autoinflammation, antibody deficiency, and immune dysregulation (APLAID)
An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B-cells, defective B-cells, increased susceptibility to infection, and increased risk of autoimmune disorders. . Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies. . Note=The disease is caused by variants affecting the gene represented in this entry.
11 regional properties for P16885
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 1038 - 1169 | IPR000008 |
| domain | Phosphatidylinositol-specific phospholipase C, X domain | 312 - 457 | IPR000909 |
| domain | SH2 domain | 530 - 635 | IPR000980-1 |
| domain | SH2 domain | 644 - 735 | IPR000980-2 |
| domain | SH3 domain | 769 - 829 | IPR001452 |
| domain | Phospholipase C, phosphatidylinositol-specific, Y domain | 930 - 1044 | IPR001711 |
| domain | Pleckstrin homology domain | 1 - 133 | IPR001849-1 |
| domain | Pleckstrin homology domain | 789 - 910 | IPR001849-2 |
| domain | PLC-gamma, C-terminal SH2 domain | 641 - 744 | IPR035023 |
| domain | PLC-gamma, N-terminal SH2 domain | 527 - 627 | IPR035024 |
| domain | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2, SH3 domain | 773 - 827 | IPR035723 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.4.11 | Phosphoric diester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| intracellular vesicle | Any vesicle that is part of the intracellular region. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| ruffle membrane | The portion of the plasma membrane surrounding a ruffle. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidylinositol phospholipase C activity | Catalysis of the reaction |
| phospholipase C activity | Catalysis of the reaction |
| phosphorylation-dependent protein binding | Binding to a protein upon phosphorylation of the target protein. |
| phosphotyrosine residue binding | Binding to a phosphorylated tyrosine residue within a protein. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein tyrosine kinase binding | Binding to protein tyrosine kinase. |
| scaffold protein binding | Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes. |
54 GO annotations of biological process
| Name | Definition |
|---|---|
| antifungal innate immune response | An defense response against a fungus mediated through an innate immune response. An innate immune response is mediated by germline encoded components that directly recognize components of potential pathogens. |
| 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. |
| B cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell. |
| calcium-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions. |
| cell activation | A multicellular organismal process by which exposure to an activating factor such as a cellular or soluble ligand results in a change in the morphology or behavior of a cell. |
| cellular response to calcium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| cellular response to lectin | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lectin stimulus. A lectin is a carbohydrate-binding protein, highly specific for binding sugar moieties. |
| cellular response to lipid | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipid stimulus. |
| Fc-epsilon receptor signaling pathway | The series of molecular signals initiated by the binding of the Fc portion of immunoglobulin E (IgE) to an Fc-epsilon 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. |
| follicular B cell differentiation | The process in which a B cell in the spleen acquires the specialized features of a follicular B cell. Follicular B cells are major population of mature recirculating B cells in the spleen and are located in the B-cell follicle region. |
| inositol trisphosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of inositol trisphosphate, 1,2,3,4,5,6-cyclohexanehexol, with three phosphate groups attached. |
| 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. |
| lipopolysaccharide-mediated signaling pathway | The series of molecular signals initiated by the binding of a lipopolysaccharide (LPS) to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Lipopolysaccharides are major components of the outer membrane of Gram-negative bacteria, making them prime targets for recognition by the immune system. |
| macrophage activation involved in immune response | A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. |
| 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. |
| phosphatidylinositol biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. |
| phosphatidylinositol metabolic process | The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. |
| phosphatidylinositol-mediated signaling | The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| phospholipid catabolic process | The chemical reactions and pathways resulting in the breakdown of phospholipids, any lipid containing phosphoric acid as a mono- or diester. |
| platelet activation | A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. |
| positive regulation of calcium-mediated signaling | Any process that activates or increases the frequency, rate or extent of calcium-mediated signaling. |
| positive regulation of cell cycle G1/S phase transition | Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the cell cycle. |
| 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 epithelial cell migration | Any process that activates or increases the frequency, rate or extent of epithelial cell migration. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of I-kappaB phosphorylation | Any process that activates or increases the frequency, rate or extent of I-kappaB phosphorylation. |
| positive regulation of interleukin-10 production | Any process that activates or increases the frequency, rate, or extent of interleukin-10 production. |
| positive regulation of interleukin-12 production | Any process that activates or increases the frequency, rate, or extent of interleukin-12 production. |
| positive regulation of interleukin-2 production | Any process that activates or increases the frequency, rate, or extent of interleukin-2 production. |
| positive regulation of interleukin-23 production | Any process that activates or increases the frequency, rate, or extent of interleukin-23 production. |
| positive regulation of interleukin-6 production | Any process that activates or increases the frequency, rate, or extent of interleukin-6 production. |
| positive regulation of macrophage cytokine production | Any process that increases the rate, frequency or extent of macrophage cytokine production. Macrophage cytokine production is the appearance of a chemokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. |
| 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 neuroinflammatory response | Any process that activates or increases the frequency, rate or extent of neuroinflammatory response. |
| positive regulation of NF-kappaB transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB. |
| positive regulation of NLRP3 inflammasome complex assembly | Any process that activates or increases the frequency, rate or extent of NLRP3 inflammasome complex assembly. |
| positive regulation of peptidyl-tyrosine phosphorylation | Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine. |
| positive regulation of phagocytosis, engulfment | Any process that activates or increases the frequency, rate or extent of the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. |
| positive regulation of reactive oxygen species biosynthetic process | Any process that activates or increases the frequency, rate or extent of reactive oxygen species biosynthetic process. |
| positive regulation of receptor internalization | Any process that activates or increases the frequency, rate or extent of receptor internalization. |
| positive regulation of tumor necrosis factor production | Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production. |
| positive regulation of type I interferon production | Any process that activates or increases the frequency, rate, or extent of type I interferon production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families. |
| programmed cell death | A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. |
| regulation of calcineurin-NFAT signaling cascade | Any process that modulates the frequency, rate or extent of the calcineurin-NFAT signaling cascade. |
| regulation of canonical NF-kappaB signal transduction | Any process that modulates I-kappaB kinase/NF-kappaB signaling. |
| regulation of lipid metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. |
| release of sequestered calcium ion into cytosol | The process in which calcium ions sequestered in the endoplasmic reticulum, Golgi apparatus or mitochondria are released into the cytosolic compartment. |
| response to axon injury | 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 an axon injury stimulus. |
| response to yeast | 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 stimulus from a yeast species. |
| stimulatory C-type lectin receptor signaling pathway | The series of molecular signals initiated by the binding of C-type lectin to its receptor on the surface of a target cell, and resulting in cellular activation. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
| toll-like receptor signaling pathway | The series of molecular signals initiated by a ligand binding to a toll-like receptor of a target cell. Toll-like receptors directly bind pattern motifs from a variety of microbial sources to initiate an innate immune response. |
| Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state. |
23 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P08487 | PLCG1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 | Bos taurus (Bovine) | EV SS |
| Q8N3E9 | PLCD3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 | Homo sapiens (Human) | SS |
| Q15111 | PLCL1 | Inactive phospholipase C-like protein 1 | Homo sapiens (Human) | PR |
| Q9UPR0 | PLCL2 | Inactive phospholipase C-like protein 2 | Homo sapiens (Human) | PR |
| Q86YW0 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Homo sapiens (Human) | PR |
| Q9BRC7 | PLCD4 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 | Homo sapiens (Human) | SS |
| P19174 | PLCG1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 | Homo sapiens (Human) | EV |
| Q00722 | PLCB2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 | Homo sapiens (Human) | EV |
| Q01970 | PLCB3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 | Homo sapiens (Human) | EV |
| Q9NQ66 | PLCB1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | Homo sapiens (Human) | EV |
| Q9P212 | PLCE1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Homo sapiens (Human) | SS |
| P51178 | PLCD1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Homo sapiens (Human) | EV |
| Q15147 | PLCB4 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 | Homo sapiens (Human) | PR |
| Q62077 | Plcg1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 | Mus musculus (Mouse) | SS |
| P10686 | Plcg1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 | Rattus norvegicus (Rat) | EV |
| P24135 | Plcg2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 | Rattus norvegicus (Rat) | SS |
| Q8GV43 | PLC6 | Phosphoinositide phospholipase C 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6NMA7 | PLC9 | Phosphoinositide phospholipase C 9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9STZ3 | PLC8 | Phosphoinositide phospholipase C 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56W08 | PLC3 | Phosphoinositide phospholipase C 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39032 | PLC1 | Phosphoinositide phospholipase C 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q944C2 | PLC5 | Phosphoinositide phospholipase C 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q944C1 | PLC4 | Phosphoinositide phospholipase C 4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSTTVNVDSL | AEYEKSQIKR | ALELGTVMTV | FSFRKSTPER | RTVQVIMETR | QVAWSKTADK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IEGFLDIMEI | KEIRPGKNSK | DFERAKAVRQ | KEDCCFTILY | GTQFVLSTLS | LAADSKEDAV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NWLSGLKILH | QEAMNASTPT | IIESWLRKQI | YSVDQTRRNS | ISLRELKTIL | PLINFKVSSA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KFLKDKFVEI | GAHKDELSFE | QFHLFYKKLM | FEQQKSILDE | FKKDSSVFIL | GNTDRPDASA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VYLHDFQRFL | IHEQQEHWAQ | DLNKVRERMT | KFIDDTMRET | AEPFLFVDEF | LTYLFSRENS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IWDEKYDAVD | MQDMNNPLSH | YWISSSHNTY | LTGDQLRSES | SPEAYIRCLR | MGCRCIELDC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| WDGPDGKPVI | YHGWTRTTKI | KFDDVVQAIK | DHAFVTSSFP | VILSIEEHCS | VEQQRHMAKA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FKEVFGDLLL | TKPTEASADQ | LPSPSQLREK | IIIKHKKLGP | RGDVDVNMED | KKDEHKQQGE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LYMWDSIDQK | WTRHYCAIAD | AKLSFSDDIE | QTMEEEVPQD | IPPTELHFGE | KWFHKKVEKR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TSAEKLLQEY | CMETGGKDGT | FLVRESETFP | NDYTLSFWRS | GRVQHCRIRS | TMEGGTLKYY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LTDNLTFSSI | YALIQHYRET | HLRCAEFELR | LTDPVPNPNP | HESKPWYYDS | LSRGEAEDML |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MRIPRDGAFL | IRKREGSDSY | AITFRARGKV | KHCRINRDGR | HFVLGTSAYF | ESLVELVSYY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EKHSLYRKMR | LRYPVTPELL | ERYNMERDIN | SLYDVSRMYV | DPSEINPSMP | QRTVKALYDY |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KAKRSDELSF | CRGALIHNVS | KEPGGWWKGD | YGTRIQQYFP | SNYVEDISTA | DFEELEKQII |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EDNPLGSLCR | GILDLNTYNV | VKAPQGKNQK | SFVFILEPKQ | QGDPPVEFAT | DRVEELFEWF |
| 910 | 920 | 930 | 940 | 950 | 960 |
| QSIREITWKI | DTKENNMKYW | EKNQSIAIEL | SDLVVYCKPT | SKTKDNLENP | DFREIRSFVE |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| TKADSIIRQK | PVDLLKYNQK | GLTRVYPKGQ | RVDSSNYDPF | RLWLCGSQMV | ALNFQTADKY |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| MQMNHALFSL | NGRTGYVLQP | ESMRTEKYDP | MPPESQRKIL | MTLTVKVLGA | RHLPKLGRSI |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| ACPFVEVEIC | GAEYDNNKFK | TTVVNDNGLS | PIWAPTQEKV | TFEIYDPNLA | FLRFVVYEED |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| MFSDPNFLAH | ATYPIKAVKS | GFRSVPLKNG | YSEDIELASL | LVFCEMRPVL | ESEEELYSSC |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| RQLRRRQEEL | NNQLFLYDTH | QNLRNANRDA | LVKEFSVNEN | QLQLYQEKCN | KRLREKRVSN |
| SKFYS |