O00329
PR
Gene name |
PIK3CD |
Protein name |
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform |
Names |
PI3-kinase subunit delta, PI3K-delta, PI3Kdelta, PtdIns-3-kinase subunit delta, Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit delta, PtdIns-3-kinase subunit p110-delta, p110delta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5293 |
EC number |
2.7.1.137: Phosphotransferases with an alcohol group as acceptor |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
911-935 (Activation loop from InterPro)
Target domain |
676-1042 (Catalytic domain of Class IA Phosphoinositide 3-kinase delta) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
15 structures for O00329
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5DXU | X-ray | 264 A | A | 2-1044 | PDB |
| 5M6U | X-ray | 285 A | A | 17-1027 | PDB |
| 5T8F | X-ray | 291 A | A | 17-1031 | PDB |
| 5UBT | X-ray | 283 A | A | 17-1029 | PDB |
| 5VLR | X-ray | 280 A | A | 17-1029 | PDB |
| 6G6W | X-ray | 272 A | A | 1-1044 | PDB |
| 6OCO | X-ray | 258 A | A | 17-1031 | PDB |
| 6OCU | X-ray | 277 A | A | 1-1044 | PDB |
| 6PYR | X-ray | 221 A | A | 17-1034 | PDB |
| 6PYU | X-ray | 254 A | A | 17-1034 | PDB |
| 7JIS | X-ray | 242 A | A | 17-1034 | PDB |
| 7LM2 | X-ray | 279 A | A | 12-1031 | PDB |
| 7LQ1 | X-ray | 296 A | A | 1-1044 | PDB |
| 8BCY | X-ray | 243 A | A | 17-1034 | PDB |
| AF-O00329-F1 | Predicted | AlphaFoldDB |
579 variants for O00329
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001213350 CA338299362 rs1257745660 |
2 | P>L | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001318415 CA17769061 rs749032083 |
6 | D>A | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001308996 CA576762 rs749032083 |
6 | D>G | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001240756 rs1647002482 |
14 | K>T | Immunodeficiency 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814653 rs765729544 CA576774 RCV002534844 |
38 | R>C | Immunodeficiency 14 Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001213349 rs1647005150 |
41 | N>H | Immunodeficiency 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA576803 rs772851443 RCV001240551 |
52 | R>H | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001237606 rs1043386158 CA17773325 |
74 | N>S | Immunodeficiency 14 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1553168726 RCV000651284 |
79 | Q>missing | Immunodeficiency 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA17773395 RCV001312599 rs768486795 |
87 | R>W | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001244034 rs765031777 RCV000788952 CA576828 |
108 | R>L | Immunodeficiency 14 Immunodeficiency 14 (imd14) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA576834 rs756298807 RCV001296112 |
113 | I>V | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs754053878 RCV001873219 CA576871 RCV000788936 |
133 | D>N | Immunodeficiency 14 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001223726 rs1351397800 CA338300533 |
134 | P>L | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001815405 rs142285826 CA576875 RCV001821612 RCV000550578 |
146 | F>I | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201492009 RCV000930378 CA576877 |
150 | A>V | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA576881 RCV001326489 rs755788138 |
152 | A>V | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000803781 rs148638384 CA576891 |
174 | S>L | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA576896 rs767838052 RCV001055871 |
180 | P>T | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs779715026 RCV000818088 CA576899 |
186 | P>L | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA576903 RCV001351605 rs748146002 |
188 | R>Q | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA576907 RCV000798222 rs569586715 |
194 | V>I | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001067875 rs1647371834 |
198 | G>S | Immunodeficiency 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs141200414 RCV000993900 RCV002501049 CA576909 RCV000795754 |
200 | E>K | Immunodeficiency 14 Combined immunodeficiency with faciooculoskeletal anomalies [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs781191290 RCV001231792 CA576944 |
212 | V>M | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA338301102 rs1287665655 RCV003222212 RCV001059440 |
220 | A>S | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001507416 CA576952 RCV000816126 rs369430343 |
231 | P>L | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000815078 rs1570363781 CA338301428 |
267 | H>Y | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1647584874 RCV001350694 |
270 | L>W | Immunodeficiency 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1647586090 RCV001267781 |
273 | H>Y | Immunodeficiency 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000651285 RCV002252193 rs557471275 CA576999 |
285 | M>T | Immunodeficiency 14 Immunodeficiency 14 (imd14) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1446283598 CA338301552 RCV000811172 |
287 | D>H | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs969868296 RCV001345155 CA17776142 |
289 | Q>R | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001042544 CA338301599 rs765061150 |
293 | A>V | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM4144266 RCV001000392 RCV001811067 CA577006 rs28730668 |
296 | V>I | Immunodeficiency 14 thyroid [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs780386111 RCV001035657 CA577010 RCV003132148 |
300 | R>H | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001810998 RCV000532966 rs61755420 CA577032 |
312 | S>C | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs746649091 CA577034 RCV001044784 |
313 | S>F | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA338301739 RCV000805494 rs770390674 |
314 | V>L | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs758304879 RCV001212029 CA577037 |
322 | P>L | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001090798 rs762697236 CA577040 RCV001362380 |
324 | R>C | Immunodeficiency 14 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs773473376 CA577042 RCV001055228 |
324 | R>H | Immunodeficiency 14 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs148703447 CA577043 RCV001056184 |
326 | E>K | Immunodeficiency 14 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000701558 CA156204 RCV000119275 CA338301874 rs28730670 |
334 | N>K | Immunodeficiency 14 Immunodeficiency 14 (imd14) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA577086 RCV001309658 rs775700162 |
357 | T>M | Immunodeficiency 14 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA577087 RCV001324399 rs763569477 |
358 | V>L | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
CA577095 RCV001246948 COSM1178069 RCV001819952 rs143521812 |
370 | V>M | Immunodeficiency 14 prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA17777699 RCV001068719 rs373591202 |
386 | R>H | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
CA577108 RCV002534447 rs571644641 RCV000705870 RCV000788826 |
397 | V>M | Immunodeficiency 14 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587777390 CA156210 RCV000119277 |
416 | C>R | Immunodeficiency 14 Variant assessed as Somatic; impact. Immunodeficiency 14 (imd14) [ClinVar, NCI-TCGA, Ensembl] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs755144547 RCV001223205 CA577141 |
424 | M>T | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001503755 CA577147 rs28730673 |
437 | R>C | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000706268 CA17779344 rs1035624064 |
440 | Y>C | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001218514 CA577149 rs759238357 |
444 | S>F | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000530768 CA577179 RCV001821611 rs28730674 |
456 | T>A | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs373779625 RCV000651282 CA577184 |
460 | R>H | Immunodeficiency 14 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000880920 CA577186 RCV002501381 rs368722127 |
465 | T>M | Immunodeficiency 14 Combined immunodeficiency with faciooculoskeletal anomalies [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1648292751 RCV001245905 |
478 | V>M | Immunodeficiency 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1648293206 RCV001335226 |
479 | A>T | Immunodeficiency 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201282174 RCV001760184 RCV001211124 COSM913592 CA577199 |
487 | A>T | Immunodeficiency 14 Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001342157 rs966409603 CA17779983 |
493 | E>A | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1342430054 CA338303612 RCV001299790 |
495 | G>R | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001231780 CA17780003 rs922490667 |
499 | E>A | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs545136223 COSM48671 RCV000651288 CA577235 |
505 | E>K | lung Immunodeficiency 14 large_intestine haematopoietic_and_lymphoid_tissue [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000788579 RCV001580541 CA338303813 rs1557669079 RCV000706607 |
525 | E>G | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA156207 rs587777389 RCV000119276 |
525 | E>K | Immunodeficiency 14 Immunodeficiency 14 (imd14) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338303952 RCV001304597 rs1220175470 |
545 | A>V | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA577276 RCV002252292 RCV001226681 RCV000993901 COSM180412 rs780269932 |
548 | R>W | Immunodeficiency 14 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001224666 rs1648521215 |
558 | H>R | Immunodeficiency 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338304140 RCV000806632 rs1302155596 |
570 | S>F | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA338304152 RCV000986231 rs1570385564 |
572 | P>S | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001440865 rs199549932 CA577314 RCV000942902 |
576 | V>I | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001047400 rs893249484 CA17780647 |
592 | V>I | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs143068130 RCV000486578 CA577321 RCV000651286 |
593 | G>R | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000698101 CA577326 rs138090835 |
601 | R>Q | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001338840 rs1648646851 |
616 | V>M | Immunodeficiency 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs993552815 CA17780912 RCV001299105 |
622 | E>K | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001225845 CA577358 rs769421641 |
631 | K>R | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000792456 CA338304968 rs1481047336 |
692 | L>V | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA577438 rs751020974 RCV002562401 RCV001214039 |
699 | V>I | Immunodeficiency 14 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_085590 | 721 | Q>del | ROCHIS; no protein can be detected by Western blot in patient cells [UniProt] | Yes | UniProt |
|
RCV000792866 rs765640030 CA577451 |
723 | A>V | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs376114835 RCV001220339 CA577455 |
732 | Q>E | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001233734 CA577459 rs547875116 RCV003130207 |
736 | D>N | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755934302 CA577460 RCV000651283 |
738 | S>R | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001050184 rs745896452 CA577485 |
766 | E>K | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200226248 CA577487 RCV002534467 RCV000706674 |
771 | G>S | Immunodeficiency 14 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000651296 rs149376192 CA577490 RCV001815425 |
772 | G>S | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs370932461 CA577492 RCV000821949 |
774 | V>M | Immunodeficiency 14 Variant assessed as Somatic; 9.63e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA338305795 RCV001317384 rs1247300105 |
788 | M>I | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001262333 rs1648958091 |
819 | G>R | Immunodeficiency 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756497515 COSM1239842 CA577559 RCV001348958 |
830 | R>H | Immunodeficiency 14 Variant assessed as Somatic; 0.0001386 impact. pancreas oesophagus [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001338836 rs1648966090 |
835 | A>T | Immunodeficiency 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001315772 CA17782869 rs200369205 |
844 | M>L | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA577570 RCV001066516 COSM913597 rs148984508 |
864 | P>L | Immunodeficiency 14 Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001303381 rs1371422939 |
867 | A>S | Immunodeficiency 14 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000548743 rs1553171728 CA338307772 |
900 | M>V | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757964104 RCV001326116 CA577635 |
944 | Q>E | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001048863 rs758647199 CA577667 |
957 | R>W | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA577670 rs142907633 RCV001507418 RCV000949868 |
958 | G>D | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs975282953 RCV001067678 COSM1185301 CA17785215 |
983 | A>V | lung Immunodeficiency 14 Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000799093 CA577723 rs142050444 RCV000414322 |
1010 | E>A | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA145460 RCV003224135 rs397518423 RCV000507954 RCV001027610 COSM1581454 VAR_070918 RCV000076908 RCV000224521 |
1021 | E>K | Immunodeficiency 14 Variant assessed as Somatic; 0.0 impact. Combined immunodeficiency with faciooculoskeletal anomalies haematopoietic_and_lymphoid_tissue Inherited Immunodeficiency Diseases Immunodeficiency 14 (imd14) IMD14A; results in gain of function causing enhanced membrane association and kinase activity [ClinVar, NCI-TCGA, Cosmic, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
CA17787141 RCV001204006 rs759704849 RCV002249791 |
1024 | R>H | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1064795762 RCV000479211 CA16617216 RCV001227774 |
1025 | E>G | Immunodeficiency 14 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs541082914 CA576757 |
2 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750425882 CA576759 |
3 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 3 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA576761 rs780051553 |
3 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA576760 rs750425882 |
3 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA338299382 CA17769072 rs1037340766 |
6 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
rs879660382 CA17769059 |
6 | D>N | No |
ClinGen Ensembl |
|
|
CA576763 rs772424669 |
7 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867168019 CA17769102 |
10 | E>D | No |
ClinGen gnomAD |
|
|
rs200039969 CA576765 |
10 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1185347441 CA338299476 |
19 | S>G | No |
ClinGen TOPMed |
|
|
CA338299480 rs376606452 |
19 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM172990 CA576768 rs143116020 |
20 | V>I | ovary Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA576769 rs770275584 |
21 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775849617 CA576770 |
22 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1382575108 CA338299541 |
30 | V>I | No |
ClinGen gnomAD |
|
|
rs763687876 CA576773 |
31 | Y>F | No |
ClinGen ExAC |
|
|
CA17769127 rs1046472589 |
32 | L>V | No |
ClinGen Ensembl |
|
|
CA338299579 rs1279930246 |
35 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761349863 COSM1220603 CA576775 |
38 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs761349863 CA338299594 |
38 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1223183330 CA338299613 |
41 | N>T | No |
ClinGen gnomAD |
|
|
rs1570356518 CA338299820 |
51 | H>P | No |
ClinGen Ensembl |
|
|
rs1375117381 CA338299832 |
52 | R>C | No |
ClinGen TOPMed |
|
|
rs766440014 COSM1345053 CA576805 |
53 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs576937504 CA576806 |
55 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1057524823 RCV000418140 CA16603713 |
61 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA576812 rs757517500 |
67 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1570356775 CA338300072 |
71 | T>P | No |
ClinGen Ensembl |
|
|
rs745980735 CA576814 |
73 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA338300144 rs1570356857 |
77 | A>V | No |
ClinGen Ensembl |
|
|
CA338300157 rs1557659457 |
79 | Q>R | No |
ClinGen Ensembl |
|
|
rs1253851300 CA338300170 |
81 | E>Q | No |
ClinGen gnomAD |
|
|
rs377713059 CA576816 |
83 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA338300214 rs1557659523 |
87 | R>Q | No |
ClinGen Ensembl |
|
|
COSM1220601 CA338300219 rs1557659540 |
88 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs769029561 CA576818 |
88 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA338300217 rs1557659540 |
88 | R>S | No |
ClinGen Ensembl |
|
|
rs775052663 CA576819 |
90 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1167794081 CA338300278 |
97 | P>S | No |
ClinGen TOPMed |
|
|
rs150205370 CA576823 |
98 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 100 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766022415 CA576825 |
100 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1229729609 CA338300308 |
103 | A>T | No |
ClinGen gnomAD |
|
|
CA338300316 rs1315288471 |
104 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA338300317 rs776273008 |
104 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA576826 rs776273008 |
104 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225852287 CA338300330 |
106 | G>D | No |
ClinGen gnomAD |
|
|
CA576827 COSM1636756 rs759579609 |
107 | D>N | bone [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1205317546 CA338300341 |
108 | R>C | No |
ClinGen gnomAD |
|
|
CA576829 rs765031777 |
108 | R>H | Immunodeficiency 14 (imd14) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767750196 CA576831 |
109 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449263530 CA338300349 |
110 | K>Q | No |
ClinGen gnomAD |
|
|
rs201273776 CA338300383 |
114 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA576835 rs780165100 |
114 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1198914856 CA338300415 |
119 | L>F | No |
ClinGen TOPMed |
|
|
rs1026915695 CA17774382 |
122 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA338300465 rs1410662789 |
125 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA338300463 rs1410662789 |
125 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1366821546 CA338300510 |
131 | L>S | No |
ClinGen TOPMed |
|
|
rs1308861733 CA338300514 |
132 | C>S | No |
ClinGen TOPMed |
|
|
CA338300575 rs1405541611 |
140 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA576873 rs765297753 |
141 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA338300579 rs765297753 |
141 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA338300583 COSM682612 rs1265306349 |
141 | A>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs752804924 CA576874 |
143 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA338300605 rs1226611327 |
144 | C>F | No |
ClinGen gnomAD |
|
|
CA576876 rs778360032 |
148 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA338300656 rs1490939727 |
151 | A>V | No |
ClinGen gnomAD |
|
|
rs138463758 COSM913583 CA576880 |
152 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs779489980 CA576882 |
153 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748728424 CA576883 |
153 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779489980 CA338300661 |
153 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA576885 rs774223814 |
154 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000788692 CA338300666 rs1557660486 |
154 | R>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1415749883 CA338300683 |
156 | Q>H | No |
ClinGen gnomAD |
|
|
rs1425025065 CA338300691 |
158 | G>S | No |
ClinGen gnomAD |
|
|
CA338300699 RCV000993899 rs1570358964 |
159 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1299852654 CA338300706 |
160 | E>K | No |
ClinGen TOPMed |
|
|
CA338300737 rs1557660567 |
164 | Q>R | No |
ClinGen Ensembl |
|
|
rs1570359037 CA338300756 |
166 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 169 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1220602 rs759732725 CA338300777 |
170 | Q>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA576889 rs759732725 |
170 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA338300792 rs1373757791 |
172 | E>G | No |
ClinGen TOPMed |
|
|
rs529803273 CA576890 |
173 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA17774852 rs377020532 |
175 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs757809265 CA576895 |
178 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA576897 rs547988333 |
181 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA576898 rs755725121 |
184 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1250682190 CA338300861 |
184 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA576902 rs754531708 |
188 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA576901 rs754531708 |
188 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA576904 rs772030591 |
189 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA338300901 rs1180364983 |
192 | V>I | No |
ClinGen gnomAD |
|
|
CA576905 rs772893560 |
193 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757878191 CA576940 |
201 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1201485090 CA338300986 |
202 | S>N | No |
ClinGen gnomAD |
|
|
CA338301021 rs1158740935 |
207 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA576942 rs751559889 |
209 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs866528417 CA17775379 |
211 | D>N | No |
ClinGen Ensembl |
|
|
CA576947 rs779226622 |
215 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458892485 CA338301109 |
221 | L>V | No |
ClinGen TOPMed |
|
|
CA338301114 rs1216060233 |
222 | R>Q | No |
ClinGen gnomAD |
|
|
rs772233114 CA576949 |
222 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1199039488 CA338301144 |
226 | T>I | No |
ClinGen TOPMed |
|
|
CA338301161 rs1224681360 |
229 | R>Q | No |
ClinGen gnomAD |
|
|
CA576951 rs761298080 |
229 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369430343 CA17775437 |
231 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338301184 rs1421176893 |
233 | V>A | No |
ClinGen gnomAD |
|
|
CA338301185 rs1421176893 |
233 | V>G | No |
ClinGen gnomAD |
|
|
CA338301180 rs1406071172 |
233 | V>M | No |
ClinGen gnomAD |
|
|
CA338301190 rs1570361652 |
234 | E>G | No |
ClinGen Ensembl |
|
|
CA576954 rs759852203 |
235 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA576955 rs373049250 |
236 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1366683993 CA338301210 |
237 | E>G | No |
ClinGen gnomAD |
|
|
CA576957 rs762485999 |
240 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA576960 rs751020278 |
244 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750264393 CA576962 |
245 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA338301262 rs201035266 |
245 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA576961 rs201035266 |
245 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756020651 CA576963 |
246 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs779682634 CA576964 |
246 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA338301271 rs1570361862 |
247 | H>D | No |
ClinGen Ensembl |
|
|
CA576965 rs748470223 |
254 | Y>F | No |
ClinGen ExAC |
|
|
CA17775594 rs964552978 |
258 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs796730337 CA17776047 |
262 | I>V | No |
ClinGen TOPMed |
|
|
CA576992 rs775936372 |
267 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1457927140 CA338301434 |
268 | S>G | No |
ClinGen TOPMed |
|
|
CA576993 rs749549630 |
269 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA17776080 rs1005945340 |
278 | H>R | No |
ClinGen TOPMed |
|
|
CA338301501 rs1405126587 |
278 | H>Y | No |
ClinGen TOPMed |
|
|
CA576995 rs773827938 |
280 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA576997 rs767202630 |
284 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA576998 rs772834969 |
285 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs146796121 COSM465142 CA17776138 |
286 | R>W | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs917453045 CA17776141 |
288 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA577004 rs765061150 |
293 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs759200030 CA577003 |
293 | A>T | No |
ClinGen ExAC |
|
|
CA338301600 rs1345563055 |
294 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs575048807 CA577005 |
295 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs754116182 | 295 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200911257 CA338301618 |
296 | V>G | No |
ClinGen gnomAD |
|
|
CA338301633 rs1570364376 |
298 | K>N | No |
ClinGen Ensembl |
|
|
rs201869776 CA577007 |
299 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1445282622 CA338301642 |
300 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA338301649 rs1350137252 |
301 | A>G | No |
ClinGen gnomAD |
|
|
rs1483926787 CA338301670 |
304 | P>L | No |
ClinGen Ensembl |
|
|
rs1483926787 CA338301669 |
304 | P>R | No |
ClinGen Ensembl |
|
|
rs749687214 CA577011 COSM1345056 |
308 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA338301725 rs1386854832 |
311 | P>S | No |
ClinGen gnomAD |
|
|
rs746649091 CA338301738 |
313 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395915862 CA338301735 |
313 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 314 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA577035 rs770390674 |
314 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA338301770 rs1452381525 |
319 | L>V | No |
ClinGen gnomAD |
|
|
CA577041 rs762697236 |
324 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338301808 rs1557663489 |
325 | I>V | No |
ClinGen Ensembl |
|
|
CA338301829 rs1570366466 |
328 | I>L | No |
ClinGen Ensembl |
|
| TCGA novel | 328 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369790602 CA17776652 CA338301839 |
329 | Q>H | No |
ClinGen ESP TOPMed |
|
|
rs766425588 CA577044 |
329 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs373890620 CA577048 |
335 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA577047 rs765798990 |
335 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338301875 rs765798990 |
335 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17776694 rs760642664 |
336 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1469537812 CA338301894 |
338 | R>G | No |
ClinGen gnomAD |
|
|
CA577052 rs145191685 |
338 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA338301937 rs1570371332 |
342 | V>G | No |
ClinGen Ensembl |
|
|
COSM913588 rs1423364986 CA338301952 |
345 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1350006292 CA338301960 |
346 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA577081 rs747930872 |
350 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA577084 rs759798937 |
352 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs188586233 CA577088 |
358 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338302056 rs1481780395 |
360 | S>N | No |
ClinGen gnomAD |
|
|
CA338302063 rs1179481484 |
361 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1179481484 CA338302064 |
361 | S>W | No |
ClinGen gnomAD |
|
|
CA17777595 rs1054834456 |
363 | V>A | No |
ClinGen Ensembl |
|
|
CA577089 rs774630166 |
364 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147079051 CA577090 |
365 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA577091 rs375873391 |
367 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143521812 CA577096 |
370 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 371 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA577097 rs370509251 |
374 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1403673258 CA338302160 |
376 | E>D | No |
ClinGen gnomAD |
|
|
CA577098 rs748011804 |
376 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs771940649 CA577099 |
377 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA338302169 rs1453300166 |
378 | D>N | No |
ClinGen TOPMed |
|
|
CA17777682 rs866028543 |
380 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA338302187 rs866028543 |
380 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs149331749 CA17777690 RCV000658489 |
383 | D>N | No |
ClinGen ClinVar ESP dbSNP gnomAD |
|
|
CA338302246 rs1454291091 |
389 | R>C | No |
ClinGen TOPMed |
|
|
rs1460280596 CA338302247 |
389 | R>H | No |
ClinGen gnomAD |
|
|
CA17777716 rs1048477125 |
393 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs774975013 CA577106 |
396 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1426700543 COSM94989 CA338302298 |
397 | V>A | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA338302306 rs760322402 |
398 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA577111 rs765972601 |
399 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1249840890 CA338302318 |
400 | K>R | No |
ClinGen gnomAD |
|
|
rs1648004459 RCV001090799 |
405 | R>C | No |
ClinVar dbSNP |
|
|
CA338302353 rs1219279866 |
405 | R>H | No |
ClinGen gnomAD |
|
|
CA17777897 rs907101954 |
407 | T>A | No |
ClinGen TOPMed |
|
|
CA338302371 rs1337423492 |
408 | K>R | No |
ClinGen TOPMed |
|
|
CA338302412 rs1273460827 |
413 | K>N | No |
ClinGen TOPMed |
|
|
rs1214315014 CA338302418 |
414 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 416 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA577138 rs139648797 |
418 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1335325896 CA338302525 |
428 | Y>C | No |
ClinGen gnomAD |
|
|
CA338302566 rs1378083934 |
433 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA577144 rs772651596 |
434 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1570377463 CA338302568 |
434 | T>P | No |
ClinGen Ensembl |
|
|
rs747483450 CA577146 |
436 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs776965614 CA577148 |
437 | R>H | Variant assessed as Somatic; 0.0004619 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA17779342 rs878878305 |
440 | Y>H | No |
ClinGen Ensembl |
|
|
CA17779348 rs868416824 |
442 | W>* | No |
ClinGen Ensembl |
|
|
rs1238600891 CA338302635 |
444 | S>A | No |
ClinGen gnomAD |
|
|
CA577152 rs762320758 |
445 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA338302676 rs1301530593 |
448 | E>D | No |
ClinGen gnomAD |
|
|
CA338302670 rs1469618469 |
448 | E>Q | No |
ClinGen gnomAD |
|
|
CA577178 rs147088845 |
451 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA577180 rs751570218 |
456 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA17779503 COSM107815 rs147135836 |
457 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA577182 rs781504902 |
459 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA577183 rs746363298 |
460 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA577185 rs780466125 |
464 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA338302793 rs1570378665 |
467 | S>N | No |
ClinGen Ensembl |
|
|
CA577189 rs761356083 |
468 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397404017 CA338302802 |
469 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs866568855 CA17779542 |
472 | L>F | No |
ClinGen Ensembl |
|
|
rs867227561 CA17779545 |
472 | L>P | No |
ClinGen Ensembl |
|
|
CA338302828 rs1175788378 |
473 | I>M | No |
ClinGen TOPMed |
|
|
rs929800121 CA17779548 |
476 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA577192 rs572367173 |
477 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA577193 rs766145180 |
480 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338302868 rs1158507595 |
480 | P>S | No |
ClinGen gnomAD |
|
|
CA338302876 rs1344295424 |
481 | H>R | No |
ClinGen gnomAD |
|
|
rs763164485 CA577195 |
481 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs751662332 CA577197 |
483 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338302927 rs1570378984 |
485 | Y>S | No |
ClinGen Ensembl |
|
|
rs201282174 CA338302942 |
487 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338302954 rs1258900023 |
488 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs756635161 CA577201 |
489 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 490 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400888893 CA338303615 |
495 | G>E | No |
ClinGen gnomAD |
|
|
rs761958757 CA577232 |
496 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338303637 rs1221225492 |
498 | S>R | No |
ClinGen gnomAD |
|
|
rs767714303 CA577233 |
499 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338303646 rs1237485949 |
500 | C>G | No |
ClinGen gnomAD |
|
|
CA17780006 rs148463269 |
500 | C>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
rs999028906 CA17780013 |
501 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA17780024 rs957609763 |
502 | H>R | No |
ClinGen Ensembl |
|
|
CA338303695 rs1260887969 |
507 | E>G | No |
ClinGen TOPMed |
|
|
CA338303694 rs1260887969 |
507 | E>V | No |
ClinGen TOPMed |
|
|
CA17780183 rs1043871084 |
509 | L>V | No |
ClinGen TOPMed |
|
|
CA577259 rs753025128 |
512 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765797019 CA577258 |
512 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17780217 rs866391453 |
514 | I>V | No |
ClinGen Ensembl |
|
|
rs1441813233 CA338303766 |
517 | R>Q | No |
ClinGen gnomAD |
|
|
rs991423011 CA17780242 |
517 | R>W | No |
ClinGen gnomAD |
|
|
CA338303771 rs1235829952 |
518 | R>Q | No |
ClinGen gnomAD |
|
|
rs1185305370 CA338303770 |
518 | R>W | Variant assessed as Somatic; 0.0001424 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA577261 rs201274224 |
520 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA577262 rs751294374 |
521 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756847877 CA577263 |
522 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA338303790 rs1423112466 |
522 | E>K | No |
ClinGen gnomAD |
|
|
CA338303825 rs749871179 |
527 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA577265 rs749871179 |
527 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA338303844 rs1332713912 |
529 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA17780278 rs915886106 |
529 | D>H | No |
ClinGen TOPMed |
|
|
CA17780274 rs915886106 |
529 | D>N | No |
ClinGen TOPMed |
|
|
CA577266 rs756081093 |
530 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1277009277 CA338303852 |
531 | V>L | No |
ClinGen gnomAD |
|
|
rs1182302845 CA338303879 |
535 | R>Q | No |
ClinGen gnomAD |
|
|
rs768558857 CA577269 |
535 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA338303886 rs1198694875 |
536 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA338303895 rs1444212968 |
537 | E>D | No |
ClinGen gnomAD |
|
|
rs778557081 CA577270 |
537 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA577271 rs747265210 |
539 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA338303912 rs1262560788 |
540 | E>Q | No |
ClinGen gnomAD |
|
|
rs759640288 CA577274 |
545 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA338303967 rs1297091785 |
548 | R>Q | No |
ClinGen gnomAD |
|
|
CA338304016 rs1257526121 |
556 | N>S | No |
ClinGen gnomAD |
|
|
CA338304036 rs1215767354 |
559 | E>K | No |
ClinGen gnomAD |
|
|
CA338304065 rs1285460528 |
563 | Q>E | No |
ClinGen gnomAD |
|
|
rs1487319918 CA338304072 |
563 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA577306 rs752658744 |
564 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA338304086 rs752658744 |
564 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs576655113 CA577307 |
565 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA577308 rs777706880 |
566 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1345064 CA577310 rs756348630 |
572 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774421473 CA577312 |
573 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs924608773 CA17780607 |
573 | E>G | No |
ClinGen Ensembl |
|
|
CA338304175 rs1175850851 |
576 | V>A | No |
ClinGen TOPMed |
|
|
CA338304190 rs1255847906 |
579 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs371700599 CA577319 |
589 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371700599 CA17780645 |
589 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338304276 rs1287071221 |
591 | H>R | No |
ClinGen TOPMed |
|
|
CA577320 rs776226369 |
592 | V>A | Immunodeficiency 14 (imd14) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs752748467 CA577323 |
598 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs369950232 CA17780667 |
599 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA577325 rs763994711 |
601 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754072203 CA577329 |
604 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379547883 CA338304376 |
606 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1156998927 CA338304402 |
609 | F>L | No |
ClinGen gnomAD |
|
|
rs1410207038 CA338304405 |
610 | Q>* | No |
ClinGen gnomAD |
|
|
rs755166062 CA577349 |
610 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1245822943 CA338304449 |
617 | Q>* | No |
ClinGen TOPMed |
|
|
rs1570387413 CA338304459 |
618 | V>G | No |
ClinGen Ensembl |
|
|
rs1219775997 CA338304456 |
618 | V>M | No |
ClinGen gnomAD |
|
|
rs747518017 CA577354 |
622 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 624 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338304495 rs1202012732 |
624 | Y>N | No |
ClinGen TOPMed |
|
|
CA577355 rs771265754 |
624 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA338304523 rs1287221059 |
628 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA577360 rs748760424 |
636 | R>Q | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs868613820 CA17780963 |
639 | A>T | No |
ClinGen Ensembl |
|
|
CA577361 rs768262076 |
641 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768262076 CA577362 |
641 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA577363 rs761809287 |
641 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA17780993 rs971647866 |
644 | G>S | No |
ClinGen Ensembl |
|
|
CA577364 rs767226031 |
647 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1557670901 CA338304652 |
648 | F>C | No |
ClinGen Ensembl |
|
|
rs1570387790 CA338304667 |
650 | H>P | No |
ClinGen Ensembl |
|
|
CA17781033 rs1002736660 |
651 | L>P | No |
ClinGen Ensembl |
|
|
rs765392990 CA577367 |
652 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338304678 rs765392990 |
652 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338304715 rs1211872659 |
655 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs756589761 CA577394 |
657 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17781301 rs906973167 |
658 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA577395 rs780565270 |
658 | P>L | Immunodeficiency 14 (imd14) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
rs780565270 CA338304733 |
658 | P>Q | Immunodeficiency 14 (imd14) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA338304731 rs906973167 |
658 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754606582 CA577397 |
659 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754606582 CA338304739 |
659 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA577399 rs747642494 |
660 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA338304745 rs1358312295 |
661 | A>T | No |
ClinGen gnomAD |
|
|
rs370028348 CA577401 |
663 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746943903 CA577402 |
663 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs369126260 CA17781369 |
665 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs763166445 CA338304785 |
667 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1235191543 CA338304804 |
670 | A>V | No |
ClinGen gnomAD |
|
|
rs768827923 CA577406 |
671 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1135424 CA17781421 |
675 | S>R | No |
ClinGen Ensembl |
|
|
rs1192325470 CA338304897 |
683 | M>I | No |
ClinGen gnomAD |
|
|
CA338304890 rs1557671578 |
683 | M>L | No |
ClinGen Ensembl |
|
|
rs760029461 CA577433 |
686 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1195446780 CA338304970 |
692 | L>P | No |
ClinGen TOPMed |
|
|
CA577434 rs765509045 |
693 | K>N | No |
ClinGen ExAC |
|
|
rs370548772 COSM3419609 CA577437 |
698 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA338305013 rs751020974 |
699 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 701 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338305034 rs1481897966 |
702 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 704 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150236912 CA577440 |
706 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA577441 rs745781507 |
707 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA17781638 rs745781507 |
707 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs779707145 CA577443 |
708 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477333023 CA338305080 |
709 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA577446 rs773461308 |
711 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1570390604 CA338305107 |
713 | E>V | No |
ClinGen Ensembl |
|
|
rs1374880877 CA338305148 |
718 | C>W | No |
ClinGen gnomAD |
|
|
CA338305154 rs1295281515 |
719 | M>I | No |
ClinGen gnomAD |
|
|
CA577449 rs777338647 |
719 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA17781684 rs964373496 |
720 | R>Q | No |
ClinGen TOPMed |
|
|
rs1336890715 CA338305158 |
720 | R>W | No |
ClinGen TOPMed |
|
|
rs1570390774 CA338305174 |
722 | E>G | No |
ClinGen Ensembl |
|
|
CA338305181 rs765640030 |
723 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA577452 rs143471703 |
725 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762689558 CA338305206 |
727 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs762689558 CA577453 |
727 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA17781703 rs948347302 |
730 | H>Y | No |
ClinGen Ensembl |
|
|
CA338305252 rs1184606534 |
735 | L>F | No |
ClinGen gnomAD |
|
|
CA338305258 rs1175223977 |
736 | D>A | No |
ClinGen gnomAD |
|
|
CA338305262 rs1557672296 |
736 | D>E | No |
ClinGen Ensembl |
|
|
rs963136903 CA17781729 |
739 | T>P | No |
ClinGen Ensembl |
|
|
rs1314823847 CA338305282 |
740 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 740 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430239142 CA338305295 |
742 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 744 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557672535 CA338305347 |
748 | Q>* | No |
ClinGen Ensembl |
|
|
rs1557672549 CA338305358 |
749 | C>S | No |
ClinGen Ensembl |
|
|
rs751837497 CA577482 |
753 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 753 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 757 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA17781898 rs972860101 |
765 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1457681300 CA338305484 |
766 | E>A | No |
ClinGen gnomAD |
|
|
rs1457681300 CA338305485 |
766 | E>G | No |
ClinGen gnomAD |
|
|
rs749787380 CA338305518 |
771 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA577488 rs749787380 |
771 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338305537 rs1570392143 |
774 | V>G | No |
ClinGen Ensembl |
|
|
RCV000599055 rs1553171177 |
777 | I>missing | No |
ClinVar dbSNP |
|
|
rs1648809005 RCV001261782 |
781 | G>R | No |
ClinVar dbSNP |
|
|
CA338305745 rs1486776204 |
785 | R>Q | No |
ClinGen gnomAD |
|
|
rs1372847864 CA338305800 |
789 | L>V | No |
ClinGen gnomAD |
|
|
rs1310527452 CA338305879 |
795 | Q>* | No |
ClinGen gnomAD |
|
|
rs1570393363 CA338305892 RCV000788624 |
797 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA577532 rs778136495 |
799 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 806 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338305970 rs1324429905 |
807 | D>E | No |
ClinGen gnomAD |
|
|
CA338305968 rs1570393434 |
807 | D>G | No |
ClinGen Ensembl |
|
|
rs768809863 CA17782805 |
811 | T>S | No |
ClinGen Ensembl |
|
|
rs781451534 CA17782811 |
812 | P>L | No |
ClinGen TOPMed |
|
|
CA577552 rs757531779 |
814 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1433204550 CA338306059 |
818 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 820 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1503840 CA577555 rs140820694 |
821 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs573872848 CA577556 COSM913596 |
821 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA577558 rs768587227 |
822 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570395770 CA338306163 |
827 | V>G | No |
ClinGen Ensembl |
|
|
rs554743340 CA17782819 |
830 | R>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 836 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 838 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1397536891 CA338306312 |
840 | N>K | No |
ClinGen TOPMed |
|
|
rs1334243610 CA338306350 |
843 | N>S | No |
ClinGen gnomAD |
|
|
rs759690872 CA577563 |
844 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA577564 rs77080134 |
845 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA577566 rs763402967 |
849 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA338306473 rs1194777620 |
853 | D>G | No |
ClinGen gnomAD |
|
| rs201426574 | 864 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA577569 rs148984508 |
864 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA577588 rs768006265 |
866 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA338307547 rs1427870699 |
866 | E>K | No |
ClinGen gnomAD |
|
|
rs1430108390 CA338307551 |
866 | E>V | No |
ClinGen TOPMed |
|
|
rs1371422939 CA338307554 |
867 | A>P | No |
ClinGen gnomAD |
|
|
rs1371422939 CA338307553 |
867 | A>T | No |
ClinGen gnomAD |
|
|
rs750767155 CA577589 |
869 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 869 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA17784431 rs752328071 |
870 | R>Q | No |
ClinGen TOPMed |
|
|
rs1304989504 CA338307627 |
878 | S>Y | No |
ClinGen gnomAD |
|
|
rs1401643921 CA338307654 |
882 | Y>C | No |
ClinGen TOPMed |
|
|
CA17784446 rs75568188 |
883 | C>F | No |
ClinGen Ensembl |
|
| TCGA novel | 893 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771951762 CA577596 |
894 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs202142608 CA17784497 |
902 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA338307793 rs1237870323 |
903 | E>Q | No |
ClinGen gnomAD |
|
|
COSM355917 rs770690790 CA577599 |
905 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs749536854 CA577623 |
910 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000993903 CA338307865 rs1570400255 |
911 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA338307978 rs1570400328 |
927 | R>C | No |
ClinGen Ensembl |
|
|
CA577628 rs773911101 |
929 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761256209 CA577629 |
935 | T>I | No |
ClinGen ExAC |
|
|
CA17784858 rs145589432 |
937 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 941 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 945 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223914240 CA338308113 |
947 | T>A | No |
ClinGen gnomAD |
|
|
CA577637 rs751502057 |
954 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA338308174 rs1414657892 |
955 | R>W | No |
ClinGen gnomAD |
|
|
rs201362243 CA17785144 |
957 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA577668 rs201362243 |
957 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA577669 rs755117692 |
958 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746383662 CA577672 |
962 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 964 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570402517 CA338308250 |
965 | T>P | No |
ClinGen Ensembl |
|
|
CA577676 rs768257375 |
968 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs551657853 CA577677 |
969 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA577678 rs761274254 |
969 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA577680 rs750392184 |
971 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA338308316 rs1570402731 |
976 | H>P | No |
ClinGen Ensembl |
|
|
CA338308340 rs1420482705 |
979 | A>V | No |
ClinGen gnomAD |
|
|
CA17785214 rs964857770 |
982 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA577685 rs778194087 |
982 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1457464907 CA338308447 |
996 | Q>* | No |
ClinGen gnomAD |
|
|
CA17785228 rs983734803 |
996 | Q>R | No |
ClinGen Ensembl |
|
|
rs759480750 CA577720 |
1006 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs765139386 CA577721 |
1007 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA17787054 rs764181256 |
1008 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1009 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1649753771 RCV001090800 |
1016 | R>* | No |
ClinVar dbSNP |
|
|
CA577725 rs750587940 |
1016 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA338308833 rs1293688309 |
1019 | F>L | No |
ClinGen TOPMed |
|
|
COSM682606 rs1384520389 CA338308863 |
1024 | R>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA17787163 rs56042861 |
1031 | V>A | No |
ClinGen Ensembl |
|
|
CA17787171 rs201414602 |
1032 | N>D | No |
ClinGen 1000Genomes |
|
|
CA338309007 rs1214099696 |
1044 | Q>R | No |
ClinGen TOPMed |
3 associated diseases with O00329
[MIM: 615513]: Immunodeficiency 14A, autosomal dominant (IMD14A)
A disorder characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, reduced immunoglobulin G2 levels in serum, and impaired vaccine responses. {ECO:0000269|PubMed:24136356}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 619281]: Immunodeficiency 14B, autosomal recessive (IMD14B)
An autosomal recessive, primary immunodeficiency characterized by recurrent sinopulmonary infections apparent in early childhood. Some patients may develop inflammatory bowel disease or osteomyelitis. Immunological features include hypogammaglobulinemia, decreased levels of B cells, and evidence of impaired immune-mediated cytotoxicity and defective T-cell function. {ECO:0000269|PubMed:30040974, ECO:0000269|PubMed:30336224}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613328]: Roifman-Chitayat syndrome (ROCHIS)
An autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures and ataxia, optic atrophy, dysmorphic facial features, distal skeletal anomalies, and recurrent invasive infections due to combined immunodeficiency. {ECO:0000269|PubMed:29180244}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Caused by the simultaneous occurrence of homozygous mutations in PIK3CD and KNSTRN. {ECO:0000269|PubMed:29180244}.
Without disease ID
- A disorder characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, reduced immunoglobulin G2 levels in serum, and impaired vaccine responses. {ECO:0000269|PubMed:24136356}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive, primary immunodeficiency characterized by recurrent sinopulmonary infections apparent in early childhood. Some patients may develop inflammatory bowel disease or osteomyelitis. Immunological features include hypogammaglobulinemia, decreased levels of B cells, and evidence of impaired immune-mediated cytotoxicity and defective T-cell function. {ECO:0000269|PubMed:30040974, ECO:0000269|PubMed:30336224}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures and ataxia, optic atrophy, dysmorphic facial features, distal skeletal anomalies, and recurrent invasive infections due to combined immunodeficiency. {ECO:0000269|PubMed:29180244}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Caused by the simultaneous occurrence of homozygous mutations in PIK3CD and KNSTRN. {ECO:0000269|PubMed:29180244}.
8 regional properties for O00329
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain | 175 - 281 | IPR000341 |
| domain | Phosphatidylinositol 3-/4-kinase, catalytic domain | 745 - 1041 | IPR000403 |
| domain | Phosphoinositide 3-kinase, accessory (PIK) domain | 497 - 685 | IPR001263 |
| domain | C2 phosphatidylinositol 3-kinase-type domain | 309 - 476 | IPR002420 |
| domain | Phosphatidylinositol 3-kinase, adaptor-binding domain | 16 - 108 | IPR003113 |
| conserved_site | Phosphatidylinositol 3/4-kinase, conserved site | 778 - 792 | IPR018936-1 |
| conserved_site | Phosphatidylinositol 3/4-kinase, conserved site | 878 - 898 | IPR018936-2 |
| domain | PI3Kdelta, catalytic domain | 676 - 1042 | IPR037703 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.1.137 | Phosphotransferases with an alcohol group as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| phosphatidylinositol 3-kinase complex | A protein complex capable of phosphatidylinositol 3-kinase activity and containing subunits of any phosphatidylinositol 3-kinase (PI3K) enzyme. These complexes are divided in three classes (called I, II and III) that differ for their presence across taxonomic groups and for the type of their constituents. Catalytic subunits of phosphatidylinositol 3-kinase enzymes are present in all 3 classes; regulatory subunits of phosphatidylinositol 3-kinase enzymes are present in classes I and III; adaptor proteins have been observed in class II complexes and may be present in other classes too. |
| phosphatidylinositol 3-kinase complex, class IA | A class I phosphatidylinositol 3-kinase complex that possesses 1-phosphatidylinositol-4-phosphate 3-kinase activity; comprises a catalytic class IA phosphoinositide 3-kinase (PI3K) subunit and an associated SH2 domain-containing regulatory subunit that is a member of a family of related proteins often called p85 proteins. Through the interaction with the SH2-containing adaptor subunits, Class IA PI3K catalytic subunits are linked to tyrosine kinase signaling pathways. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| 1-phosphatidylinositol-3-kinase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol + ATP = a 1-phosphatidyl-1D-myo-inositol 3-phosphate + ADP + 2 H(+). |
| 1-phosphatidylinositol-4-phosphate 3-kinase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4-phosphate + ATP = 1-phosphatidyl-1D-myo-inositol 3,4-bisphosphate + ADP + 2 H(+). |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| kinase activity | Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
| phosphatidylinositol 3-kinase activity | Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol 3-phosphate. This reaction is the addition of a phosphate group to phosphatidylinositol or one of its phosphorylated derivatives at the 3' position of the inositol ring. |
| phosphatidylinositol kinase activity | Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol phosphate. |
| phosphatidylinositol-3,4-bisphosphate 5-kinase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3,4-bisphosphate + ATP = a 1-phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate + ADP + 2 H(+). |
| phosphatidylinositol-4,5-bisphosphate 3-kinase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + ATP = a 1-phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate + ADP + 2 H(+). |
39 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| B cell activation | The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. |
| B cell chemotaxis | The directed movement of a B cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). |
| 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. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| inflammatory response | The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| mast cell chemotaxis | The movement of a mast cell in response to an external stimulus. |
| mast cell degranulation | The regulated exocytosis of secretory granules containing preformed mediators such as histamine, serotonin, and neutral proteases by a mast cell. |
| mast cell differentiation | The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. |
| natural killer cell activation | The change in morphology and behavior of a natural killer cell in response to a cytokine, chemokine, cellular ligand, or soluble factor. |
| natural killer cell chemotaxis | The directed movement of a natural killer cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). |
| natural killer cell differentiation | The process in which a relatively unspecialized cell acquires the specialized features of a natural killer cell. |
| neutrophil chemotaxis | The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. |
| neutrophil extravasation | The migration of a neutrophil from the blood vessels into the surrounding tissue. |
| phosphatidylinositol 3-kinase signaling | A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions. |
| phosphatidylinositol phosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate. |
| phosphatidylinositol-3-phosphate biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol-3-phosphate, a phosphatidylinositol monophosphate carrying the phosphate group at the 3-position. |
| 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. |
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
| positive regulation of angiogenesis | Any process that activates or increases angiogenesis. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| positive regulation of cell migration by vascular endothelial growth factor signaling pathway | The series of molecular signals initiated by vascular endothelial growth factor (VEGF) binding to its receptor on the surface of a cell, which activates or increases the frequency, rate or extent of the orderly movement of a cell from one site to another. |
| positive regulation of cytokine production | Any process that activates or increases the frequency, rate or extent of production of a cytokine. |
| positive regulation of endothelial cell migration | Any process that increases the rate, frequency, or extent of the orderly movement of an endothelial cell into the extracellular matrix to form an endothelium. |
| positive regulation of endothelial cell proliferation | Any process that activates or increases the rate or extent of endothelial cell proliferation. |
| positive regulation of epithelial tube formation | Any process that activates or increases the frequency, rate or extent of epithelial tube formation. |
| 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 neutrophil apoptotic process | Any process that activates or increases the frequency, rate, or extent of neutrophil apoptotic process. |
| positive regulation of protein kinase B signaling | Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| respiratory burst involved in defense response | A phase of elevated metabolic activity, during which oxygen consumption increases made as part of a defense response ; this leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| T cell activation | The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. |
| T cell chemotaxis | The directed movement of a T cell in response to an external stimulus. A T cell is a type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. |
| T cell differentiation | The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32871 | PIK3CA | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | Bos taurus (Bovine) | PR |
| Q9UBF8 | PI4KB | Phosphatidylinositol 4-kinase beta | Homo sapiens (Human) | PR |
| P42356 | PI4KA | Phosphatidylinositol 4-kinase alpha | Homo sapiens (Human) | PR |
| O00443 | PIK3C2A | Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha | Homo sapiens (Human) | PR |
| P48736 | PIK3CG | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform | Homo sapiens (Human) | PR |
| P42336 | PIK3CA | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | Homo sapiens (Human) | PR |
| P42338 | PIK3CB | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform | Homo sapiens (Human) | PR |
| P42337 | Pik3ca | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform | Mus musculus (Mouse) | PR |
| Q8BTI9 | Pik3cb | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform | Mus musculus (Mouse) | PR |
| Q9JHG7 | Pik3cg | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform | Mus musculus (Mouse) | PR |
| O35904 | Pik3cd | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform | Mus musculus (Mouse) | PR |
| O02697 | PIK3CG | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform | Sus scrofa (Pig) | PR |
| Q9Z1L0 | Pik3cb | Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform | Rattus norvegicus (Rat) | PR |
| Q94125 | age-1 | Phosphatidylinositol 3-kinase age-1 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPPGVDCPME | FWTKEENQSV | VVDFLLPTGV | YLNFPVSRNA | NLSTIKQLLW | HRAQYEPLFH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MLSGPEAYVF | TCINQTAEQQ | ELEDEQRRLC | DVQPFLPVLR | LVAREGDRVK | KLINSQISLL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IGKGLHEFDS | LCDPEVNDFR | AKMCQFCEEA | AARRQQLGWE | AWLQYSFPLQ | LEPSAQTWGP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GTLRLPNRAL | LVNVKFEGSE | ESFTFQVSTK | DVPLALMACA | LRKKATVFRQ | PLVEQPEDYT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LQVNGRHEYL | YGSYPLCQFQ | YICSCLHSGL | TPHLTMVHSS | SILAMRDEQS | NPAPQVQKPR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AKPPPIPAKK | PSSVSLWSLE | QPFRIELIQG | SKVNADERMK | LVVQAGLFHG | NEMLCKTVSS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SEVSVCSEPV | WKQRLEFDIN | ICDLPRMARL | CFALYAVIEK | AKKARSTKKK | SKKADCPIAW |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ANLMLFDYKD | QLKTGERCLY | MWPSVPDEKG | ELLNPTGTVR | SNPNTDSAAA | LLICLPEVAP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| HPVYYPALEK | ILELGRHSEC | VHVTEEEQLQ | LREILERRGS | GELYEHEKDL | VWKLRHEVQE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HFPEALARLL | LVTKWNKHED | VAQMLYLLCS | WPELPVLSAL | ELLDFSFPDC | HVGSFAIKSL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RKLTDDELFQ | YLLQLVQVLK | YESYLDCELT | KFLLDRALAN | RKIGHFLFWH | LRSEMHVPSV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ALRFGLILEA | YCRGSTHHMK | VLMKQGEALS | KLKALNDFVK | LSSQKTPKPQ | TKELMHLCMR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QEAYLEALSH | LQSPLDPSTL | LAEVCVEQCT | FMDSKMKPLW | IMYSNEEAGS | GGSVGIIFKN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GDDLRQDMLT | LQMIQLMDVL | WKQEGLDLRM | TPYGCLPTGD | RTGLIEVVLR | SDTIANIQLN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KSNMAATAAF | NKDALLNWLK | SKNPGEALDR | AIEEFTLSCA | GYCVATYVLG | IGDRHSDNIM |
| 910 | 920 | 930 | 940 | 950 | 960 |
| IRESGQLFHI | DFGHFLGNFK | TKFGINRERV | PFILTYDFVH | VIQQGKTNNS | EKFERFRGYC |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| ERAYTILRRH | GLLFLHLFAL | MRAAGLPELS | CSKDIQYLKD | SLALGKTEEE | ALKHFRVKFN |
| 1030 | 1040 | ||||
| EALRESWKTK | VNWLAHNVSK | DNRQ |