P15918
PR
Gene name |
RAG1 (RNF74) |
Protein name |
V(D)J recombination-activating protein 1 |
Names |
RAG-1, RING finger protein 74 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5896 |
EC number |
2.3.2.27: Aminoacyltransferases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P15918
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P15918-F1 | Predicted | AlphaFoldDB |
901 variants for P15918
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs200575481 RCV001753766 RCV000272199 RCV001731582 RCV001065533 |
1 | M>V | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency disease Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5949888 RCV001246920 rs745600099 |
5 | F>L | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000308604 rs760746448 RCV000363341 RCV001059650 CA5949891 |
13 | S>A | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1274599533 CA380145403 RCV001046637 |
28 | W>R | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000818000 CA5949901 rs149364682 |
32 | L>V | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5949905 rs377307948 RCV000645682 RCV002507103 |
34 | R>Q | Combined immunodeficiency with skin granulomas Combined immunodeficiency due to partial RAG1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1338238826 RCV001304267 |
42 | P>S | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5949912 RCV002520717 RCV000324217 rs147486240 RCV000269112 |
51 | D>V | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001103309 RCV001103310 rs1850780083 |
63 | P>A | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000686139 CA380145847 rs1564988004 |
64 | A>V | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs750032999 RCV001341544 CA5949921 |
65 | V>F | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002265892 RCV000812323 CA5949930 rs759537311 |
78 | Q>E | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1590701723 CA380146145 RCV000807306 |
83 | A>V | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000645695 rs150199231 CA5949933 RCV000423103 |
84 | H>R | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002222473 RCV000725574 RCV000282657 RCV002279720 rs772962160 RCV000779060 RCV002279719 |
86 | K>missing | Combined immunodeficiency with skin granulomas RAG1-Related Disorders Severe combined immunodeficiency disease Combined immunodeficiency due to partial RAG1 deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001240630 rs550985019 CA5949941 |
92 | H>Q | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1343229886 CA380146225 RCV000824140 |
95 | E>K | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001103313 rs533714087 CA5949947 RCV001103314 |
99 | G>D | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs138676205 RCV000870894 CA5949946 |
99 | G>S | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5949954 RCV001241537 rs777049576 |
103 | H>R | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001297062 CA220600077 rs991160720 |
104 | Q>E | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001058704 rs144019501 CA220600096 |
107 | L>F | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA214203 RCV000030393 RCV000778322 RCV001336880 RCV000820376 rs193922464 RCV000397265 |
108 | R>* | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; 0.0 impact. RAG1-Related Disorders Combined immunodeficiency due to partial RAG1 deficiency Severe combined immunodeficiency disease [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM926730 CA220600108 RCV001244069 rs748211230 |
108 | R>Q | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM136829 CA5949965 RCV001027615 RCV001252744 rs146457887 |
112 | R>C | skin Microcephaly Inherited Immunodeficiency Diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5949966 rs749223640 RCV000645684 RCV000489989 |
112 | R>H | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP |
|
RCV001105218 RCV001105217 rs749223640 |
112 | R>L | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1850784411 RCV001105220 RCV001105219 |
118 | F>L | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000988527 rs1590701881 |
121 | D>missing | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061409 rs780167146 |
121 | D>A | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1266530796 RCV001332465 |
122 | E>V | Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10638395 RCV000335126 RCV000279956 rs886048252 |
128 | P>S | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001234730 rs1168709961 CA380146443 |
129 | V>G | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5949974 rs773742414 RCV000812740 |
132 | P>S | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003106065 CA5949976 RCV000788309 rs140648865 |
139 | G>V | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5949977 rs773929270 RCV001869060 RCV000988528 RCV000768299 RCV002250692 |
142 | R>* | Combined immunodeficiency with skin granulomas Combined immunodeficiency due to partial RAG1 deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001106352 RCV001106353 CA5949978 rs372110434 |
142 | R>Q | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Variant assessed as Somatic; 0.0 impact. Histiocytic medullary reticulosis [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002477798 rs144430517 RCV000792032 CA5949980 |
144 | K>N | Combined immunodeficiency with skin granulomas Combined immunodeficiency due to partial RAG1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5949982 rs763843831 COSM1736538 RCV001325278 |
152 | P>L | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; 0.0 impact. central_nervous_system [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
VAR_007800 CA122883 rs1801203 RCV000014024 RCV002513031 |
156 | A>V | Combined immunodeficiency with skin granulomas RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM no effect on recombination activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001238378 rs751582511 CA5949985 |
157 | K>N | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA380146619 RCV001218779 rs1258478128 |
157 | K>R | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5949991 rs753042511 RCV001106355 RCV001448444 RCV001106354 |
162 | D>E | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001246178 CA5949996 VAR_029260 rs4151027 |
169 | S>L | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000821505 CA380146718 rs1424812134 |
173 | T>S | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002279730 RCV000766117 RCV001855959 RCV002279729 RCV002279728 rs1241698978 |
174 | E>missing | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, B cell-negative Combined immunodeficiency due to partial RAG1 deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000792591 RCV000413643 rs149229197 CA5950000 |
176 | C>F | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs750394886 RCV002536598 RCV000768064 CA5950005 |
183 | M>I | Combined immunodeficiency with skin granulomas Combined immunodeficiency due to partial RAG1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5950009 RCV000780681 RCV000389615 RCV000645692 RCV000295079 rs34841221 |
193 | E>K | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs867348931 CA220600329 RCV001205767 |
209 | P>T | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5950026 RCV000291741 RCV001320109 RCV000346886 rs202178215 |
218 | R>H | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs764179803 CA380149285 RCV001041651 |
219 | R>L | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs764179803 CA5950027 RCV001043434 COSM3415831 |
219 | R>Q | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5950029 RCV001317499 rs757672759 |
227 | Q>L | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs76897604 RCV001108566 RCV000645698 CA5950037 RCV003224364 RCV001546604 RCV001108567 |
242 | Q>R | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Combined immunodeficiency due to partial RAG1 deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5950040 RCV001043774 COSM1507894 RCV000307123 RCV000406884 rs147203889 |
247 | R>C | lung Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Variant assessed as Somatic; 0.0 impact. Histiocytic medullary reticulosis [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5950041 VAR_029261 rs4151029 RCV001231347 |
247 | R>H | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000536425 rs3740955 RCV000127709 |
249 | H>= | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5950043 RCV001796052 RCV001814983 RCV001512871 RCV000455724 rs3740955 RCV001702659 RCV001796053 VAR_007802 RCV001796051 |
249 | H>R | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Immunodeficiency 104 Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs878853031 RCV000224814 RCV001174963 RCV001854775 |
259 | S>missing | Combined immunodeficiency with skin granulomas Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766378998 RCV001240968 |
265 | K>missing | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001038681 CA220600533 rs1002699516 |
267 | A>G | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000361863 RCV001203120 rs148393376 RCV000404463 CA5950056 |
267 | A>T | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Variant assessed as Somatic; 0.0 impact. Histiocytic medullary reticulosis [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001050691 rs368607209 CA5950062 |
275 | S>N | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA220600571 RCV000546508 rs1027087402 |
277 | K>R | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1554944775 CA380150115 RCV000556779 |
284 | P>L | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1225342881 RCV001298396 |
292 | S>C | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000358641 RCV000224203 RCV002490423 RCV000303729 rs4151030 CA214206 RCV000127710 VAR_020113 RCV001084268 RCV000030394 |
302 | D>E | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Severe combined immunodeficiency disease Combined immunodeficiency due to partial RAG1 deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001235564 rs145962212 CA5950073 |
306 | T>I | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA122913 VAR_045957 RCV000014042 rs121918568 |
314 | R>W | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; impact. CHIDG; reduced recombination activity [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP |
|
rs121918571 VAR_025971 RCV000014046 CA122922 RCV000820844 |
328 | C>Y | Combined immunodeficiency with skin granulomas Histiocytic medullary reticulosis OS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000766114 rs1564988767 |
330 | S>missing | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [ClinVar] | Yes |
ClinVar dbSNP |
|
rs568867325 RCV000804696 CA5950082 |
332 | R>* | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001300414 RCV001267785 CA5950083 rs762022709 COSM3670758 |
332 | R>Q | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Variant assessed as Somatic; 0.0 impact. prostate [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA220600678 RCV001839023 RCV000798507 rs1041695603 |
333 | Y>H | Combined immunodeficiency with skin granulomas Combined immunodeficiency due to partial RAG1 deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs773326832 CA5950085 RCV000800766 |
338 | T>P | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001105306 RCV001105307 RCV001047692 CA5950090 rs200758244 RCV002505586 |
350 | V>I | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Combined immunodeficiency due to partial RAG1 deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001313443 rs200758244 |
350 | V>L | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753165042 RCV000552443 CA5950091 RCV001105308 RCV001105309 |
354 | L>M | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000763737 RCV000707727 CA5950092 RCV001105310 rs151077440 RCV001105311 |
355 | M>T | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Combined immunodeficiency due to partial RAG1 deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA380151259 RCV001205082 rs1461508819 RCV002250731 |
363 | C>Y | Combined immunodeficiency with skin granulomas Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1850803486 RCV001052504 |
372 | Y>H | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001294841 rs1850804605 |
383 | K>E | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs141049427 RCV000812563 CA5950104 |
385 | I>T | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001226092 rs771237578 CA5950105 |
387 | V>A | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554944856 CA380151728 RCV001731748 RCV001050135 RCV000519147 |
393 | G>V | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1850805503 RCV002223987 RCV001070571 |
394 | R>Q | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1590702874 RCV000817355 CA380151733 RCV001575075 |
394 | R>W | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs104894289 RCV000014026 VAR_008886 CA122889 RCV000059556 |
396 | R>C | Variant assessed as Somatic; 0.0 impact. Histiocytic medullary reticulosis OS [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000688686 VAR_008887 RCV000014028 COSM304336 rs104894291 CA122895 |
396 | R>H | Combined immunodeficiency with skin granulomas large_intestine Histiocytic medullary reticulosis OS [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_025972 RCV000059557 rs104894291 CA219785 |
396 | R>L | OS [UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002533679 RCV000703227 CA380151845 rs1385203770 |
401 | S>L | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000059558 CA219788 VAR_025973 rs199474682 |
401 | S>P | OS [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA220600867 RCV002489717 RCV001071923 rs202189218 RCV001106442 RCV001106441 |
403 | T>S | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Combined immunodeficiency due to partial RAG1 deficiency Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA5950113 RCV000817183 rs764981110 RCV000788766 |
404 | R>W | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA380151891 RCV000766115 rs1564988958 |
405 | R>G | Combined immunodeficiency due to partial RAG1 deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001267787 rs986694616 |
407 | Q>E | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_025974 RCV002283452 rs199474684 RCV000766113 CA219791 RCV002513782 RCV000059559 |
410 | R>Q | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002282448 RCV001065315 rs758288006 CA5950115 |
410 | R>W | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; 0.0 impact. Histiocytic medullary reticulosis [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000526312 rs1554944877 CA380152001 |
411 | L>P | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000795280 CA5950120 rs780974569 |
419 | K>R | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs568838996 RCV001338242 RCV001335329 CA5950122 |
422 | A>S | Combined immunodeficiency with skin granulomas Combined immunodeficiency due to partial RAG1 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000014029 CA122898 VAR_008888 rs104894292 |
429 | D>G | Histiocytic medullary reticulosis OS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000059560 VAR_025975 CA219794 rs199474679 |
433 | V>M | OS and T(-)B(-)NK(+) SCID; found in a patient with an atypical form of severe combined immunodeficiency/Omenn syndrome [UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA219797 RCV001069679 RCV001804802 rs141524540 RCV000059561 VAR_025976 RCV000762842 |
435 | M>V | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency disease Combined immunodeficiency due to partial RAG1 deficiency OS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1850809055 RCV001319553 |
441 | A>S | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000559478 VAR_025977 COSM687412 RCV000059562 rs199474685 RCV001390074 CA219800 RCV002281904 |
444 | A>V | lung Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Variant assessed as Somatic; 0.0 impact. Severe combined immunodeficiency disease OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5950130 VAR_029262 rs4151031 RCV000253706 RCV001106444 RCV001711652 RCV001106443 RCV000541489 |
449 | R>K | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001253458 rs1850809690 |
450 | Q>* | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199474677 RCV000819860 VAR_067274 CA219803 RCV000059563 |
454 | L>Q | Combined immunodeficiency with skin granulomas OS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs201779957 RCV000354119 RCV001445356 CA5950132 RCV000260296 |
456 | A>D | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA219806 RCV000059564 RCV003137602 rs199474678 VAR_067275 RCV001235005 |
474 | R>C | Combined immunodeficiency with skin granulomas probable disease-associated variant found in a patient with relatively late onset of infections and isolated T-cell lymphopenia; also found in a patient with T and B cell immunodeficiency and progressive multifocal leukoencephalopathy; decreases recombination activity; no effect on protein abundance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3397657 VAR_025978 rs199474686 CA219809 RCV000059565 RCV002284360 RCV001731478 RCV002498351 RCV000791763 |
474 | R>H | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; 0.0 impact. central_nervous_system Combined immunodeficiency due to partial RAG1 deficiency Severe combined immunodeficiency disease Histiocytic medullary reticulosis OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA235827 RCV001852063 RCV000171192 rs772340017 |
480 | S>G | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA380152593 rs1270133689 RCV000761770 RCV001039344 |
489 | R>S | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1590703120 CA380152596 RCV000820451 |
490 | T>A | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002547337 RCV001335330 CA5950141 rs777216600 |
494 | I>V | Combined immunodeficiency with skin granulomas Combined immunodeficiency due to partial RAG1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1850813830 RCV001212946 |
498 | Q>H | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001267786 rs143969029 CA5950145 |
507 | R>Q | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002307468 VAR_025979 RCV000014043 rs104894298 RCV001857789 CA034720 |
507 | R>W | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; 0.0 impact. CHIDG and OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome; reduced recombination activity when associated with H-737 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA220601030 rs61758790 RCV001063418 |
520 | F>L | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1490273597 RCV000795118 CA380152791 |
520 | F>S | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000519696 rs193922461 CA213430 RCV000696949 RCV000022745 VAR_025980 |
522 | W>C | Combined immunodeficiency with skin granulomas OS; also found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000967725 rs4151032 CA5950156 VAR_029263 |
525 | P>S | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1590703275 RCV000022746 |
541 | L>missing | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001228514 rs773829381 CA5950162 |
544 | L>I | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs148235228 RCV001049141 CA5950164 |
546 | S>F | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1850817619 RCV001037346 |
554 | D>G | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001108646 CA5950171 RCV001108645 rs150790148 RCV001067050 |
558 | K>N | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001854249 VAR_025981 RCV001594380 RCV000059566 CA380153044 CA219812 rs199474681 |
559 | R>S | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive T(-)B(-)NK(+) SCID and OS; also found in a patient with an atypical form of severe combined immunodeficiency/Omenn syndrome; decreased recombination activity [ClinVar, UniProt] | Yes |
ClinGen TOPMed gnomAD ClinVar UniProt dbSNP |
|
RCV000014030 COSM542386 CA122901 RCV001386663 RCV000014031 RCV001091951 RCV000766112 rs104894285 VAR_008890 RCV000537788 |
561 | R>C | lung Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, B cell-negative Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Variant assessed as Somatic; 0.0 impact. Histiocytic medullary reticulosis OS [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001332464 rs104894284 RCV001781262 CA122886 RCV000014025 RCV001384043 VAR_008889 |
561 | R>H | Combined immunodeficiency with skin granulomas Histiocytic medullary reticulosis OS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA5950176 rs142333735 RCV001343374 |
576 | D>V | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1317842420 CA380153193 RCV000645683 |
581 | M>T | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1554944973 RCV000645686 CA380153236 |
587 | D>E | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001091952 rs991089005 CA380153252 RCV003153929 |
589 | Y>* | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001108649 RCV001108650 rs1850820995 |
596 | V>M | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs145951370 RCV001221930 |
601 | S>A | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA380153358 RCV000766112 rs1564989420 |
605 | M>I | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001343162 rs761671439 CA5950187 |
608 | V>M | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA380153380 RCV001307394 rs1460488211 |
609 | S>G | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_078307 RCV001042812 rs1850821995 |
612 | H>R | Combined immunodeficiency with skin granulomas found in a patient with an atypical form of combined immunodeficiency; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1564989455 RCV000766113 |
622 | A>missing | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002481961 rs148380512 RCV001050532 CA5950191 |
622 | A>T | Combined immunodeficiency with skin granulomas Combined immunodeficiency due to partial RAG1 deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_025982 rs199474688 RCV002514309 RCV000059567 CA219815 |
624 | R>C | Combined immunodeficiency with skin granulomas OS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA219818 RCV000766115 RCV000059568 rs199474680 RCV000766116 VAR_007803 RCV001381393 |
624 | R>H | Combined immunodeficiency with skin granulomas Combined immunodeficiency due to partial RAG1 deficiency T(-)B(-)NK(+) SCID; decreased recombination activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA16619316 RCV000480839 rs749669514 RCV001865426 |
625 | F>L | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1322150766 RCV001352006 |
635 | A>S | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071960 CA220601180 rs909682682 RCV003160594 |
636 | H>R | Combined immunodeficiency with skin granulomas Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002069307 rs774103837 RCV001234668 |
661 | M>missing | Combined immunodeficiency with skin granulomas Combined immunodeficiency due to partial RAG1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199474689 RCV000059569 CA219821 VAR_025983 |
669 | E>G | OS [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM186663 rs139863630 CA5950202 RCV001066664 |
670 | T>M | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs143227621 CA5950207 RCV001035782 |
679 | I>V | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5950209 rs767579422 RCV000800919 |
687 | S>N | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000059570 RCV000548870 COSM287899 rs199474676 CA219824 VAR_067276 RCV001293030 RCV001729376 |
699 | R>W | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Variant assessed as Somatic; 0.0 impact. pancreas large_intestine Histiocytic medullary reticulosis OS; also in a patient with multiple autoimmune disorders [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000334174 RCV000388629 CA10638989 rs886048254 |
704 | I>V | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA380154038 RCV000766117 rs1564989610 |
707 | G>R | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001050136 rs1850829046 |
709 | G>A | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA380154088 rs1590703656 RCV000808659 |
714 | L>F | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002466255 rs1064793248 RCV000483831 CA16619317 |
716 | R>Q | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Variant assessed as Somatic; 4.621e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5950218 RCV001091953 rs199776076 RCV002557957 |
716 | R>W | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs28933392 RCV000014021 VAR_007804 CA122874 |
722 | E>K | Severe combined immunodeficiency, B cell-negative Variant assessed as Somatic; 0.0 impact. T(-)B(-)NK(+) SCID; decreased recombination activity [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
CA380154173 RCV000766116 rs1564989655 |
728 | Y>H | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1850830824 RCV001091954 RCV002555953 |
733 | C>* | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000809722 CA220601347 rs922541917 |
735 | A>V | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM1470480 RCV000014043 VAR_008891 CA122904 RCV001389160 RCV001091955 RCV000014032 rs104894286 RCV001027614 |
737 | R>H | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; 0.0 impact. central_nervous_system prostate Histiocytic medullary reticulosis Inherited Immunodeficiency Diseases OS and CHIDG; reduced recombination activity when associated with T-507 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5950229 RCV001317633 rs762107952 |
740 | A>G | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5950231 RCV001344708 rs377252087 |
746 | F>C | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001222037 rs1850832170 |
750 | T>S | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000059571 RCV002271397 VAR_025984 CA219827 RCV000687602 rs199474687 |
753 | H>L | Combined immunodeficiency with skin granulomas OS; found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA5950239 rs749027430 COSM145840 RCV002497461 RCV001065314 |
759 | R>C | Combined immunodeficiency with skin granulomas Combined immunodeficiency due to partial RAG1 deficiency haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000014022 CA122877 rs104894282 |
774 | E>* | Severe combined immunodeficiency, B cell-negative [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_078308 | 774 | E>del | T(-)B(-)NK(+) SCID; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA122925 rs121918572 RCV000014047 RCV000801211 COSM355977 |
776 | R>W | lung Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, B cell-negative Variant assessed as Somatic; 0.0 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs121918569 RCV000014044 RCV002513032 CA122916 COSM1168721 VAR_045958 RCV000479659 |
778 | R>Q | Combined immunodeficiency with skin granulomas pancreas CHIDG; reduced recombination activity [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000988529 rs752020152 RCV001389161 CA380154489 |
778 | R>W | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs754502950 CA5950251 RCV000768065 RCV000695106 |
783 | S>* | Combined immunodeficiency with skin granulomas Combined immunodeficiency due to partial RAG1 deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000330468 RCV001049027 rs773703055 CA5950257 RCV000294306 |
809 | K>R | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs61752933 RCV001103484 CA5950258 RCV002558036 RCV001103485 |
810 | I>V | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001041164 RCV000486567 rs768860215 CA5950260 |
814 | E>D | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5950262 RCV001300165 rs748162851 |
815 | I>M | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001063659 rs1251259946 CA380154736 |
815 | I>T | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000385043 RCV000245314 VAR_008892 RCV001814976 CA5950267 RCV001636747 RCV000290555 rs2227973 RCV001512872 RCV001795396 |
820 | K>R | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Immunodeficiency 104 Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001041476 CA220601597 rs147656090 |
823 | N>S | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5950268 RCV001220585 rs147656090 |
823 | N>T | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001252847 rs1850837414 |
825 | S>A | Microcephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752304188 CA5950270 RCV001103486 RCV001103487 |
829 | R>S | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001508315 rs1850837839 RCV001336878 RCV002546796 |
829 | R>S* | Combined immunodeficiency with skin granulomas Combined immunodeficiency due to partial RAG1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000778323 RCV001784382 CA5950271 rs755551812 |
830 | K>* | RAG1-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1215266586 RCV000529956 CA380154862 |
834 | A>S | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000800055 CA5950275 rs778785063 |
839 | H>L | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs104894287 RCV003137515 CA122907 RCV000014040 RCV001205083 VAR_025985 |
841 | R>W | Combined immunodeficiency with skin granulomas Combined immunodeficiency due to partial RAG1 deficiency T-CMVA; also found in a patient with an atypical form of severe combined immunodeficiency /Omenn syndrome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs186717025 CA5950279 RCV000693037 |
843 | K>E | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000030391 rs193922462 RCV000803712 CA214197 |
868 | A>V | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency disease [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
TCGA novel RCV001067051 rs201313833 |
869 | V>F | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
COSM1470479 CA5950301 RCV000824429 RCV001255281 RCV000391789 RCV000345492 rs145772007 |
876 | E>K | Combined immunodeficiency with skin granulomas Primary ciliary dyskinesia Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Variant assessed as Somatic; 0.0 impact. prostate Histiocytic medullary reticulosis [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA293052 RCV000127711 rs4151033 RCV001105408 VAR_020114 RCV000554305 RCV001105407 |
880 | E>K | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs199474691 CA219833 VAR_008893 RCV000059573 |
885 | L>R | OS [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA5950306 rs4151034 RCV000287102 RCV000532748 VAR_029264 RCV000341833 |
887 | D>N | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001731796 CA220564442 RCV002491148 rs757797994 RCV001041560 RCV000579006 |
897 | R>* | Combined immunodeficiency with skin granulomas Combined immunodeficiency due to partial RAG1 deficiency Severe combined immunodeficiency disease [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000484528 rs1064793249 COSM276989 RCV003155202 CA16619319 RCV002525771 |
897 | R>Q | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
| VAR_078309 | 897 | R>del | T(-)B(-)NK(+) SCID; also found in patients with an atypical form of severe combined immunodeficiency/Omenn syndrome; loss of recombination activity; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs104894290 VAR_008894 CA122892 RCV000014027 |
912 | Y>C | Histiocytic medullary reticulosis OS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001253457 rs1850845029 |
917 | Q>* | Combined immunodeficiency due to partial RAG1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305382 CA5950314 rs753962790 |
918 | R>C | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs368073575 CA5950315 RCV003155346 RCV001055272 RCV002497424 |
918 | R>H | Combined immunodeficiency with skin granulomas Variant assessed as Somatic; 0.0 impact. Combined immunodeficiency due to partial RAG1 deficiency [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5950321 RCV000693597 rs144893101 |
925 | T>M | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1350887566 CA380135273 RCV001343319 COSM284453 |
926 | K>T | Combined immunodeficiency with skin granulomas large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000014023 rs104894283 CA122880 |
938 | Y>* | Severe combined immunodeficiency, B cell-negative [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078310 | 938 | Y>del | T(-)B(-)NK(+) SCID; decreased recombination activity [UniProt] | Yes | UniProt |
|
CA5950326 rs762625040 RCV000357136 RCV001859806 RCV000404870 |
942 | T>I | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001346267 rs1850846848 |
942 | T>S | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1850847083 RCV001207138 |
945 | H>R | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1850847509 RCV001056745 |
954 | G>V | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1850847819 RCV001242919 |
959 | W>* | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs897086171 RCV001217159 |
960 | A>S | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs973731079 CA220564692 RCV001337886 |
966 | S>T | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA380135896 RCV001205368 CA214200 RCV000030392 rs193922463 |
968 | N>K | Combined immunodeficiency with skin granulomas Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA380135985 RCV001060735 rs1389614116 COSM926744 RCV001706717 |
973 | R>C | Combined immunodeficiency with skin granulomas endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs1384545687 RCV001070572 |
973 | R>P | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001384587 VAR_025987 rs150739647 CA219836 RCV000059574 RCV000780682 |
975 | R>Q | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency disease OS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000014045 VAR_045959 rs121918570 CA122919 RCV000820053 |
975 | R>W | Combined immunodeficiency with skin granulomas CHIDG; reduced recombination activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA122910 RCV000014041 rs104894288 VAR_025988 |
981 | Q>P | Combined immunodeficiency due to partial RAG1 deficiency T-CMVA [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1245287257 RCV001879777 RCV001267788 RCV002499439 CA380136174 |
982 | S>Y | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Combined immunodeficiency due to partial RAG1 deficiency [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs886048255 CA10638993 RCV000276078 RCV000331243 |
990 | V>I | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs539590514 RCV000414066 RCV000542154 CA16042785 |
992 | K>E | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5950346 RCV000412932 rs775412266 RCV000687603 |
994 | H>R | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001336879 rs1388654836 |
996 | L>F | Combined immunodeficiency due to partial RAG1 deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5950353 RCV001544721 RCV001108724 rs139113046 RCV000645690 RCV001108725 RCV001805777 |
1006 | M>V | Combined immunodeficiency with skin granulomas Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Histiocytic medullary reticulosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5950357 RCV001061467 rs376829075 |
1009 | H>Y | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5950364 rs771708758 RCV001337503 |
1028 | P>L | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001242373 rs771708758 CA5950365 |
1028 | P>Q | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001230181 rs1850853178 |
1036 | E>Q | Combined immunodeficiency with skin granulomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1422281887 CA380144957 |
6 | P>S | No |
ClinGen gnomAD |
|
|
CA380145010 rs1377547190 |
8 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 9 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5949890 rs775259813 |
9 | L>S | No |
ClinGen ExAC |
|
|
CA5949889 rs771932715 |
9 | L>V | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs977780517 CA220599791 |
10 | G>V | No |
ClinGen TOPMed |
|
|
CA380145076 rs1463769346 |
12 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs765396585 CA5949892 |
14 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949893 rs765396585 |
14 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435668744 CA380145115 |
14 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 15 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187342308 CA380145140 |
15 | P>R | No |
ClinGen TOPMed |
|
|
CA5949894 rs763134083 |
15 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751834545 CA5949896 |
16 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766458077 CA5949895 |
16 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755263117 CA5949897 |
17 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1225248653 CA380145201 |
19 | Q>* | No |
ClinGen TOPMed |
|
|
rs150201913 CA220599801 |
19 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5949898 rs138801620 |
20 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1235434764 CA380145226 |
20 | H>Y | No |
ClinGen gnomAD |
|
|
CA380145262 rs1451044368 |
21 | P>L | No |
ClinGen gnomAD |
|
|
CA380145249 rs1207354466 |
21 | P>S | No |
ClinGen gnomAD |
|
|
rs1319420569 CA380145284 |
22 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 27 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756679254 CA5949900 |
29 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs572993073 CA5949902 |
33 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5949903 rs370678903 |
33 | F>L | No |
ClinGen ESP ExAC TOPMed |
|
|
COSM368513 rs377307948 CA380145502 |
34 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs778391388 COSM1353713 CA5949904 |
34 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA380145514 rs1414071641 |
35 | V>E | No |
ClinGen gnomAD |
|
|
CA380145508 rs1164702188 |
35 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1162129015 CA380145544 |
37 | S>T | No |
ClinGen gnomAD |
|
|
rs1362347641 CA380145551 |
37 | S>Y | No |
ClinGen gnomAD |
|
|
CA380145612 rs779958394 |
40 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380145639 rs1449961416 |
42 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1449961416 CA380145637 |
42 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA380145627 rs1338238826 |
42 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1421811091 CA380145684 |
45 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 46 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768649904 CA5949909 |
47 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs776727182 CA5949910 |
50 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA5949911 rs373615697 |
51 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA220599856 rs373615697 |
51 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1486819488 CA380145760 |
52 | S>F | No |
ClinGen gnomAD |
|
|
CA380145765 rs759858884 |
53 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759858884 CA5949914 |
53 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949915 rs767765877 |
55 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA380145781 rs1409296761 |
56 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5949917 rs761039913 |
58 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1157909558 CA380145804 |
59 | L>R | No |
ClinGen gnomAD |
|
|
CA5949918 rs764535849 |
60 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1415916254 CA380145816 |
61 | Q>R | No |
ClinGen gnomAD |
|
|
CA5949919 rs754373829 |
63 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs143654819 CA5949922 |
65 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5949923 rs779859808 |
66 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1377826874 CA380145863 |
66 | L>V | No |
ClinGen gnomAD |
|
|
rs1284430302 CA380145876 |
67 | D>H | No |
ClinGen gnomAD |
|
|
rs887750833 CA220599913 |
69 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746746901 CA5949924 |
70 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1470456519 CA380145949 |
71 | G>C | No |
ClinGen gnomAD |
|
|
CA5949925 rs768598530 |
72 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs781240450 CA5949927 |
72 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs781240450 CA5949926 |
72 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5949929 rs774553965 |
77 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA380146055 rs759537311 |
78 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772277798 CA5949931 |
78 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA380146070 rs1177495711 |
79 | P>A | No |
ClinGen gnomAD |
|
|
CA380146077 rs1590701721 |
79 | P>L | No |
ClinGen Ensembl |
|
|
rs1177495711 CA380146072 |
79 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 82 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5949935 rs754321019 |
85 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380146153 rs754321019 |
85 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949937 rs371433826 |
86 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs267602869 CA380146186 CA5949939 |
89 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5949942 rs751291400 |
93 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA380146228 rs142057334 |
95 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142057334 CA5949944 |
95 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5949945 rs748028123 |
97 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA380146250 rs1457954794 |
98 | R>S | No |
ClinGen gnomAD |
|
|
rs772170562 CA5949949 |
101 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949950 rs772170562 |
101 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949951 rs772170562 |
101 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461569783 CA380146288 |
105 | A>T | No |
ClinGen TOPMed |
|
|
CA220600085 rs916855592 |
105 | A>V | No |
ClinGen gnomAD |
|
|
CA380146298 rs367725290 CA5949958 |
106 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765721602 CA5949957 |
106 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs765721602 CA380146296 |
106 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs751240103 CA5949961 |
107 | L>H | No |
ClinGen ExAC |
|
|
CA5949960 rs144019501 |
107 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5949963 rs193922464 |
108 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380146306 rs1338902811 |
109 | H>Y | No |
ClinGen TOPMed |
|
|
CA380146323 rs1453687929 |
111 | C>* | No |
ClinGen TOPMed |
|
|
CA5949964 rs755882570 |
111 | C>Y | No |
ClinGen ExAC |
|
|
rs1279281327 CA380146363 |
117 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758451206 CA5949967 |
118 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs371963186 CA220600118 |
119 | R>G | No |
ClinGen Ensembl |
|
|
CA220600119 rs901852177 |
119 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA380146380 rs1249112395 |
120 | A>V | No |
ClinGen gnomAD |
|
|
CA5949968 rs780167146 |
121 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1364862323 CA380146395 COSM317943 |
122 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1266530796 CA380146393 |
122 | E>G | No |
ClinGen gnomAD |
|
|
rs1209929471 CA380146390 |
122 | E>Q | No |
ClinGen gnomAD |
|
|
CA5949969 rs747229620 |
124 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5949970 rs768801685 |
124 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs776734747 CA380146411 |
125 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs748499180 CA380146424 CA380146423 |
126 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380146447 rs1458428343 |
130 | H>R | No |
ClinGen gnomAD |
|
|
rs770090316 CA5949973 |
130 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs763423470 CA5949975 |
133 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1341918341 CA380146530 |
144 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380146533 rs1564988239 |
144 | K>R | No |
ClinGen Ensembl |
|
|
rs755905192 CA5949981 |
145 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA220600192 rs868228495 |
150 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 150 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487804801 CA380146596 CA380146595 |
153 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1020555505 CA220600206 |
158 | V>A | No |
ClinGen Ensembl |
|
|
rs781438678 CA5949987 |
160 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5949986 rs542536171 |
160 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778062483 CA5949990 |
162 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA380146645 rs1159713387 |
162 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380146653 rs1418203799 |
163 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 167 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5949997 rs4151027 |
169 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA380146701 rs1311382817 |
170 | I>T | No |
ClinGen gnomAD |
|
|
rs371145383 CA220600266 |
171 | H>Q | No |
ClinGen ESP TOPMed |
|
|
CA5949998 rs377310123 |
171 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 172 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380146717 rs1424812134 |
173 | T>A | No |
ClinGen TOPMed |
|
|
rs1352933118 CA380146729 |
174 | E>D | No |
ClinGen gnomAD |
|
|
CA5950001 rs753511482 |
179 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380146763 rs1316967249 |
179 | C>Y | No |
ClinGen gnomAD |
|
|
rs761612265 CA380146782 |
181 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761612265 CA5950003 |
181 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374362464 CA5950004 |
181 | S>I | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000171461 rs786205615 |
186 | K>missing | No |
ClinVar dbSNP |
|
|
CA380146897 rs1179365435 |
186 | K>T | No |
ClinGen gnomAD |
|
|
CA5950006 rs377399061 |
187 | F>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1047933204 CA220600289 |
187 | F>L | No |
ClinGen TOPMed |
|
|
CA380146941 rs1178662993 |
188 | S>I | No |
ClinGen gnomAD |
|
|
CA5950007 rs781183450 |
189 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs958444204 CA220600298 |
190 | A>T | No |
ClinGen Ensembl |
|
|
CA5950008 rs752955928 |
192 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5950010 rs778067035 |
194 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380147038 rs778067035 |
194 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563167039 CA5950011 |
197 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs563167039 CA5950012 |
197 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 198 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771597469 CA5950015 |
199 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA380147086 rs1232282131 |
200 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1261445267 CA380147102 |
202 | M>T | No |
ClinGen gnomAD |
|
|
rs1277936728 CA380147099 |
202 | M>V | No |
ClinGen TOPMed |
|
|
rs1459285258 CA380147108 |
203 | E>Q | No |
ClinGen gnomAD |
|
|
CA380147121 rs1199316807 |
204 | W>* | No |
ClinGen gnomAD |
|
|
rs760237407 CA380147130 |
205 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1479941178 CA380147135 |
206 | P>S | No |
ClinGen gnomAD |
|
|
CA380147155 rs1426498483 |
207 | H>N | No |
ClinGen gnomAD |
|
|
rs1432915698 CA380147174 |
207 | H>Q | No |
ClinGen gnomAD |
|
|
CA380149224 rs1174762825 |
209 | P>L | No |
ClinGen gnomAD |
|
|
CA220600331 COSM108879 rs147440161 |
210 | S>F | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1466902809 CA380149238 |
212 | D>N | No |
ClinGen gnomAD |
|
|
CA380149247 rs1564988413 |
213 | I>V | No |
ClinGen Ensembl |
|
|
CA5950021 rs765060046 |
215 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA380149278 rs766340723 |
217 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766340723 CA5950024 |
217 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5950025 rs557360812 |
218 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs202178215 CA380149281 |
218 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA220600394 rs368199324 |
219 | R>W | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA5950028 rs754152578 |
221 | L>H | No |
ClinGen ExAC TOPMed |
|
|
CA380149303 rs1590702291 |
222 | K>N | No |
ClinGen Ensembl |
|
|
CA220600411 rs932071341 |
223 | R>K | No |
ClinGen TOPMed |
|
|
rs1305781797 CA380149324 |
225 | S>I | No |
ClinGen gnomAD |
|
|
CA5950030 rs779477118 |
227 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1340279042 CA380149359 |
230 | L>F | No |
ClinGen TOPMed |
|
|
CA380149361 rs1257740588 |
231 | Q>* | No |
ClinGen TOPMed |
|
|
rs1265865758 CA380149369 |
232 | L>V | No |
ClinGen gnomAD |
|
|
rs1478597820 CA380149379 |
233 | S>N | No |
ClinGen gnomAD |
|
|
rs780625678 CA5950034 |
235 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 235 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5950035 rs746457359 |
238 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs768246320 CA5950036 |
240 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1326110253 CA380149428 |
241 | D>Y | No |
ClinGen TOPMed |
|
|
rs1590702339 CA380149436 |
242 | Q>* | No |
ClinGen Ensembl |
|
|
CA5950038 rs747850976 COSM223454 |
243 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA219839 rs199474683 RCV000059575 VAR_007801 |
244 | R>G | No |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
|
CA380149505 rs1329911475 RCV000603536 |
246 | A>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA5950039 rs147203889 |
247 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs4151029 CA220600467 |
247 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5950042 rs766175932 |
248 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000389898 rs886041745 |
249 | H>missing | No |
ClinVar dbSNP |
|
|
rs3740955 CA380149552 |
249 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA380149557 rs1463801379 |
249 | H>Q | No |
ClinGen TOPMed |
|
|
CA220600478 rs144616804 |
251 | R>G | No |
ClinGen ESP gnomAD |
|
|
CA5950046 rs760638765 |
251 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1220983468 CA380149588 |
251 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA380149633 rs1193424034 |
254 | Q>* | No |
ClinGen gnomAD |
|
|
rs368279695 CA5950049 |
259 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380149725 rs368279695 |
259 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5950051 rs765560985 |
260 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA380149773 rs750759391 |
261 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA220600517 rs965178550 |
263 | M>I | No |
ClinGen TOPMed |
|
|
rs1564988585 CA380149790 |
263 | M>R | No |
ClinGen Ensembl |
|
|
CA380149843 rs1002699516 |
267 | A>D | No |
ClinGen gnomAD |
|
|
rs148393376 CA5950057 |
267 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372245240 CA5950058 |
268 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372245240 CA220600537 |
268 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380149897 rs1450530320 |
270 | S>T | No |
ClinGen gnomAD |
|
|
rs374454838 CA5950059 |
272 | I>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374454838 CA380149933 |
272 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1271511256 CA380149927 |
272 | I>V | No |
ClinGen gnomAD |
|
|
rs1226918177 CA380149949 |
273 | H>R | No |
ClinGen gnomAD |
|
|
rs772831972 CA5950061 |
275 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs770722305 CA5950063 |
278 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA220600575 rs770722305 |
278 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA380150038 rs1590702498 |
279 | L>F | No |
ClinGen Ensembl |
|
|
CA220600589 rs942273076 |
282 | D>G | No |
ClinGen TOPMed |
|
|
CA5950065 rs762484383 |
282 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA5950066 rs768862261 |
284 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764156288 CA5950067 |
285 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761969746 CA5950068 |
286 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5950069 rs765603879 |
290 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs575719588 CA5950070 |
291 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1225342881 CA380150268 |
292 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA380150314 rs1157766585 |
294 | Q>H | No |
ClinGen gnomAD |
|
|
CA380150306 rs1440288110 |
294 | Q>R | No |
ClinGen gnomAD |
|
|
CA380150319 rs1440353636 |
295 | I>L | No |
ClinGen TOPMed |
|
|
CA380150410 rs1415962742 |
298 | H>R | No |
ClinGen gnomAD |
|
|
CA380150403 rs1405598312 |
298 | H>Y | No |
ClinGen gnomAD |
|
|
rs763256521 CA5950071 |
301 | A>V | No |
ClinGen ExAC |
|
|
CA380150485 rs1590702574 |
302 | D>N | No |
ClinGen Ensembl |
|
|
rs752017342 CA5950072 |
303 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 303 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380150577 rs1450494465 |
305 | E>D | No |
ClinGen gnomAD |
|
|
CA380150613 rs1590702590 |
307 | N>S | No |
ClinGen Ensembl |
|
|
CA380150639 rs1209843802 |
308 | C>Y | No |
ClinGen TOPMed |
|
|
rs1378271223 CA380150695 |
310 | H>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 314 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380150748 rs1206270386 |
314 | R>Q | No |
ClinGen TOPMed |
|
|
CA380150761 rs1347498530 |
315 | V>G | No |
ClinGen gnomAD |
|
|
rs781659242 CA5950074 |
315 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA380150787 rs1353735446 |
317 | I>S | No |
ClinGen TOPMed |
|
|
rs1307873525 CA380150803 |
318 | L>R | No |
ClinGen TOPMed |
|
|
rs139883723 CA220600641 |
319 | R>T | No |
ClinGen ESP |
|
|
CA380150824 rs1263333349 |
320 | C>Y | No |
ClinGen gnomAD |
|
|
RCV001009031 rs1590702629 |
323 | V>missing | No |
ClinVar dbSNP |
|
|
CA220600646 rs144391165 |
323 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA220600654 rs879137477 |
324 | M>L | No |
ClinGen Ensembl |
|
|
rs201462389 CA5950077 |
325 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748924084 CA5950078 |
326 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs770646337 CA5950079 |
327 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
CA220600668 rs181967562 |
329 | P>S | No |
ClinGen 1000Genomes |
|
|
rs1180910221 CA380150965 |
331 | C>G | No |
ClinGen gnomAD |
|
|
rs568867325 CA5950081 |
332 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA220600683 rs902350422 RCV000521773 |
333 | Y>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1564988784 CA380150976 |
333 | Y>C | No |
ClinGen Ensembl |
|
|
CA5950084 rs371983072 |
335 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1181506121 CA380151002 |
337 | P>S | No |
ClinGen TOPMed |
|
|
rs752023899 CA5950088 |
342 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA220600700 rs1056909211 CA380151046 |
344 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs767381048 CA220600702 |
345 | K>E | No |
ClinGen Ensembl |
|
|
CA380151061 rs1181106636 |
346 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA380151064 rs1221375169 |
347 | F>L | No |
ClinGen gnomAD |
|
|
rs759876765 CA380151082 |
349 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001009035 rs1590702729 |
350 | V>missing | No |
ClinVar dbSNP |
|
|
rs1360992388 CA380151090 |
351 | L>V | No |
ClinGen TOPMed |
|
|
CA380151120 rs1554944840 |
355 | M>I | No |
ClinGen Ensembl |
|
|
CA5950093 rs777281925 |
356 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA5950095 rs757001983 |
358 | C>F | No |
ClinGen ExAC gnomAD |
|
| VAR_078305 | 358 | C>Y | found in a patient with common variable immunodeficiency with B cell deficiency; decreased recombinant activity [UniProt] | No | UniProt |
|
rs778416211 CA5950096 |
359 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380151210 rs376840051 |
360 | A>G | No |
ClinGen gnomAD |
|
|
CA380151198 rs1196032995 |
360 | A>T | No |
ClinGen gnomAD |
|
|
CA220600774 rs376840051 |
360 | A>V | No |
ClinGen gnomAD |
|
|
rs745705563 CA5950097 |
361 | K>E | No |
ClinGen ExAC |
|
|
rs1590702754 CA380151256 |
363 | C>R | No |
ClinGen Ensembl |
|
|
CA5950098 rs369623707 |
364 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs186342720 CA5950099 |
364 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1406518260 CA380151289 |
365 | E>K | No |
ClinGen gnomAD |
|
|
CA5950100 rs746891973 |
366 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA380151302 rs746891973 |
366 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs560640141 CA5950101 |
368 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380151324 rs1319908264 |
369 | L>F | No |
ClinGen gnomAD |
|
|
rs1402253537 CA380151325 |
370 | E>K | No |
ClinGen gnomAD |
|
|
rs1279641012 CA380151345 |
372 | Y>C | No |
ClinGen gnomAD |
|
|
CA220600798 rs1006789212 |
373 | N>D | No |
ClinGen TOPMed |
|
|
rs1226024902 CA380151376 |
374 | H>L | No |
ClinGen gnomAD |
|
|
rs1406772617 CA380151365 |
374 | H>N | No |
ClinGen TOPMed |
|
|
rs773272902 VAR_078306 CA5950102 |
375 | H>D | found in a patient with T and B cell immunodeficiency and progressive multifocal leukoencephalopathy; unknown pathological significance [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA380151424 rs1164290801 |
377 | S>P | No |
ClinGen TOPMed |
|
|
rs1017953850 CA220600805 |
378 | S>N | No |
ClinGen TOPMed |
|
|
rs1290955265 CA380151483 |
380 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 385 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380151613 rs1218559623 CA380151615 |
387 | V>L | No |
ClinGen gnomAD |
|
|
CA5950106 rs774408446 |
388 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs759928067 CA5950107 |
392 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1299237943 CA380151801 |
398 | H>R | No |
ClinGen gnomAD |
|
|
rs764504798 CA5950110 |
399 | L>V | No |
ClinGen ExAC |
|
|
rs750055861 CA5950114 |
404 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA220600890 rs953538050 |
405 | R>S | No |
ClinGen Ensembl |
|
|
CA220600888 rs1030506402 |
405 | R>T | No |
ClinGen Ensembl |
|
|
rs986694616 CA220600891 |
407 | Q>* | No |
ClinGen TOPMed |
|
|
CA380152004 rs1261152678 |
412 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 417 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755006570 CA5950119 |
418 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA380152177 rs1292985274 |
427 | G>D | No |
ClinGen TOPMed |
|
|
CA220600919 rs104894292 |
429 | D>V | No |
ClinGen Ensembl |
|
|
CA380152194 rs1452088681 |
430 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 432 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376901369 CA5950124 |
433 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199474679 CA380152213 |
433 | V>L | No |
ClinGen TOPMed |
|
|
rs1307634205 CA380152237 |
436 | T>I | No |
ClinGen gnomAD |
|
|
CA380152250 rs1465369983 |
438 | F>C | No |
ClinGen TOPMed |
|
|
rs764709729 CA5950127 |
443 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA380152296 rs1203092847 |
446 | N>I | No |
ClinGen gnomAD |
|
|
rs1203092847 CA380152295 |
446 | N>S | No |
ClinGen gnomAD |
|
|
CA5950129 rs764600759 |
446 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA380152350 rs1178216516 |
453 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380152374 rs138387845 |
457 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1430945012 CA380152371 |
457 | I>T | No |
ClinGen gnomAD |
|
|
rs1255898910 CA380152376 |
458 | M>V | No |
ClinGen TOPMed |
|
|
rs191898756 CA220600961 |
460 | G>A | No |
ClinGen 1000Genomes |
|
|
CA220600959 rs888227862 |
460 | G>R | No |
ClinGen TOPMed |
|
|
CA380152414 rs1175082815 |
463 | S>C | No |
ClinGen gnomAD |
|
|
rs1312698908 CA380152421 |
464 | G>D | No |
ClinGen TOPMed |
|
|
rs142486791 CA5950133 |
467 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA380152447 rs1462438114 |
468 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA380152474 rs1375626545 |
472 | A>V | No |
ClinGen TOPMed |
|
|
rs1564989133 CA380152507 |
478 | F>L | No |
ClinGen Ensembl |
|
|
CA5950137 rs778899874 |
478 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780233608 CA5950138 |
484 | Y>H | No |
ClinGen ExAC |
|
|
rs1159838942 CA380152557 |
485 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1159838942 CA380152559 |
485 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA220600988 rs112047157 |
487 | M>V | No |
ClinGen Ensembl |
|
|
rs982131090 CA220600996 |
488 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs747440739 CA5950139 |
490 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA380152603 rs1198163896 |
491 | V>E | No |
ClinGen gnomAD |
|
|
CA5950140 rs374560352 |
493 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5950142 rs762167278 |
499 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs769349662 CA5950143 |
501 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5950144 rs769349662 |
501 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483463421 CA380152677 |
502 | P>L | No |
ClinGen TOPMed |
|
|
CA380152672 rs1564989190 |
502 | P>T | No |
ClinGen Ensembl |
|
|
CA220601011 rs900798725 |
504 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 505 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255271221 CA380152692 |
505 | A>T | No |
ClinGen TOPMed |
|
|
CA5950148 rs759401797 |
510 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5950149 rs533793542 |
511 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752688023 CA5950150 |
512 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs752688023 CA380152735 |
512 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs777674644 CA5950152 |
513 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA380152754 rs1224336572 COSM1263747 |
515 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1590703204 CA380152765 |
517 | Y>S | No |
ClinGen Ensembl |
|
|
CA380152787 rs1407314923 |
520 | F>L | No |
ClinGen gnomAD |
|
|
rs1490273597 CA380152793 |
520 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1378936510 CA380152806 |
522 | W>* | No |
ClinGen TOPMed |
|
|
CA380152813 rs1266284064 |
523 | Q>K | No |
ClinGen gnomAD |
|
|
rs553675432 CA5950154 |
524 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs553675432 CA5950155 |
524 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380152857 rs1590703249 |
530 | S>A | No |
ClinGen Ensembl |
|
|
rs1564989271 CA380152872 |
532 | S>N | No |
ClinGen Ensembl |
|
|
rs1590703252 CA380152868 |
532 | S>R | No |
ClinGen Ensembl |
|
|
CA380152919 rs1158723010 |
539 | D>G | No |
ClinGen TOPMed |
|
|
rs1423722657 CA380152927 |
540 | G>E | No |
ClinGen gnomAD |
|
|
rs1590703267 CA380152923 RCV000788428 |
540 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA380152946 rs773829381 |
544 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774163774 CA5950165 COSM352369 |
548 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs759047894 CA5950166 |
552 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs752495346 CA5950168 |
555 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs764059099 CA5950170 |
556 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484580113 CA380153091 |
566 | L>F | No |
ClinGen gnomAD |
|
|
CA5950173 rs755218369 |
567 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA220601095 rs138101978 |
569 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
| TCGA novel | 569 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781460951 CA5950174 |
571 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1590703338 CA380153126 |
572 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 572 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1016397554 CA220601101 |
573 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA380153172 rs1564989371 |
578 | L>S | No |
ClinGen Ensembl |
|
|
CA380153176 rs1402321228 |
579 | E>K | No |
ClinGen TOPMed |
|
|
CA380153187 rs778449910 |
580 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5950177 rs778449910 |
580 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5950178 rs749759536 |
582 | R>G | No |
ClinGen ExAC |
|
|
rs770571840 CA5950179 |
582 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1337522789 CA380153208 |
583 | S>F | No |
ClinGen gnomAD |
|
|
CA380153222 rs1382674775 |
585 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 585 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745372134 CA5950181 |
586 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs771672209 CA5950182 |
587 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 588 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358110098 CA380153246 |
589 | Y>H | No |
ClinGen TOPMed |
|
|
rs1249522813 CA380153273 |
593 | P>S | No |
ClinGen gnomAD |
|
|
CA220601126 rs1024345971 |
598 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA380153304 rs1024345971 |
598 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
COSM1507890 rs145951370 CA5950184 |
601 | S>P | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed |
|
rs145951370 CA220601131 |
601 | S>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA380153355 COSM338957 rs1432899822 |
605 | M>T | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA380153372 rs183806098 |
607 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5950188 rs765152071 |
610 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA380153397 rs1234552566 |
611 | K>T | No |
ClinGen gnomAD |
|
|
rs1470364709 CA380153421 |
614 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1470364709 CA380153419 |
614 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5950189 CA220601154 rs757701512 |
617 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA380153444 rs1406031519 |
618 | V>A | No |
ClinGen gnomAD |
|
|
CA5950190 rs755059628 |
619 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1220787597 CA380153471 |
622 | A>V | No |
ClinGen TOPMed |
|
|
rs915870367 CA220601164 |
623 | V>I | No |
ClinGen Ensembl |
|
|
CA380153481 rs1430920906 |
625 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA220601171 rs866525367 |
626 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 627 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278197225 CA380153508 |
629 | I>V | No |
ClinGen gnomAD |
|
|
rs1348229451 CA380153544 |
633 | T>I | No |
ClinGen gnomAD |
|
|
CA380153546 rs1263385083 |
634 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1322150766 CA380153552 |
635 | A>T | No |
ClinGen gnomAD |
|
|
rs1198262197 CA380153566 |
637 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 638 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs939753919 CA220601186 |
641 | V>A | No |
ClinGen Ensembl |
|
|
rs544726387 CA5950196 |
642 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1590703517 CA380153649 |
648 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 651 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA220601187 rs900914896 |
651 | S>P | No |
ClinGen gnomAD |
|
|
rs1470892362 CA380153670 |
652 | E>K | No |
ClinGen Ensembl |
|
|
rs866417570 CA220601205 |
659 | C>* | No |
ClinGen Ensembl |
|
|
CA380153721 rs1323484137 |
659 | C>G | No |
ClinGen TOPMed |
|
|
CA5950198 rs775026816 |
659 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1049841091 CA220601219 |
664 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA380153759 rs1590703553 RCV000788421 |
665 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1409958211 CA380153767 |
666 | S>T | No |
ClinGen gnomAD |
|
|
CA380153783 rs1327439331 |
668 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs878853004 CA10581269 RCV000223999 |
669 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs139863630 CA5950203 |
670 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5950205 rs765134146 |
674 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA220601251 rs774724308 |
674 | I>T | No |
ClinGen Ensembl |
|
|
rs765134146 CA380153817 |
674 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773165685 CA380153834 |
677 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 677 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5950206 rs773165685 |
677 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1272409838 CA380153867 |
682 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1564989567 CA380153877 |
683 | E>V | No |
ClinGen Ensembl |
|
|
CA380153880 rs1490765641 |
684 | A>T | No |
ClinGen gnomAD |
|
|
rs1008194970 CA220601258 |
684 | A>V | No |
ClinGen Ensembl |
|
|
CA380153885 rs1458457310 |
685 | M>V | No |
ClinGen TOPMed |
|
|
rs752977291 CA5950210 |
688 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5950211 rs756473420 |
690 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs764401387 CA5950212 |
691 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA380153978 rs1166611036 |
698 | L>F | No |
ClinGen gnomAD |
|
|
CA5950214 rs369990217 |
699 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380153994 rs1197216177 |
701 | F>Y | No |
ClinGen TOPMed |
|
|
rs1326444164 COSM322973 CA380154093 |
715 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1326444164 CA380154092 |
715 | V>M | No |
ClinGen gnomAD |
|
|
rs1448500648 CA380154110 |
718 | V>M | No |
ClinGen TOPMed |
|
|
CA5950219 rs374370400 |
720 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000788507 rs1590703677 CA380154130 |
721 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA380154157 rs1590703686 |
725 | G>D | No |
ClinGen Ensembl |
|
|
CA380154170 rs1408063282 |
727 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 727 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5950223 rs201192233 |
729 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201192233 CA5950224 |
729 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770771227 CA5950225 |
730 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446458173 CA380154186 |
730 | C>R | No |
ClinGen gnomAD |
|
|
rs1387606444 CA380154195 |
731 | T>S | No |
ClinGen gnomAD |
|
|
CA380154207 rs1564989663 |
733 | C>Y | No |
ClinGen Ensembl |
|
|
rs775773642 CA5950226 |
736 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA380154225 rs1590703707 |
736 | T>P | No |
ClinGen Ensembl |
|
|
rs760816389 CA5950227 |
737 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5950228 rs754073191 |
739 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765578408 CA5950230 |
741 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1014281478 CA220601400 |
744 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 744 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000788763 rs1590703740 CA380154293 |
747 | H>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs748827810 CA380154297 |
747 | H>Q | No |
ClinGen gnomAD |
|
|
rs759008821 CA5950232 |
748 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA380154300 rs1314302707 |
748 | S>Y | No |
ClinGen gnomAD |
|
|
rs542851147 CA5950233 |
749 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA380154329 rs1350287702 |
752 | S>R | No |
ClinGen gnomAD |
|
|
rs747746845 CA5950236 |
753 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5950235 rs199474687 |
753 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5950237 rs769483414 |
755 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA380154357 rs1183454717 |
757 | L>V | No |
ClinGen gnomAD |
|
|
CA220601417 rs868819938 |
758 | E>K | No |
ClinGen Ensembl |
|
|
CA5950240 rs770953505 |
759 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs563140654 CA5950241 |
762 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1156316128 CA380154404 |
764 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5950243 COSM926740 rs768809293 |
764 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 766 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279903346 CA380154417 |
766 | N>I | No |
ClinGen TOPMed |
|
| TCGA novel | 766 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469886045 CA380154425 |
767 | P>R | No |
ClinGen gnomAD |
|
|
CA220601462 rs984404819 |
769 | H>R | No |
ClinGen Ensembl |
|
|
CA220601466 rs768260595 |
770 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 771 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380154449 rs377690758 |
771 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5950245 rs377690758 |
771 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5950246 rs374387337 |
773 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5950247 rs104894282 |
774 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763202008 CA5950248 |
775 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1254739284 CA380154478 |
776 | R>Q | No |
ClinGen gnomAD |
|
|
CA380154483 rs1481935422 |
777 | D>N | No |
ClinGen gnomAD |
|
|
rs909724257 CA220601505 |
777 | D>V | No |
ClinGen Ensembl |
|
|
rs752020152 CA380154488 |
778 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200300629 CA220601518 |
782 | V>D | No |
ClinGen Ensembl |
|
| TCGA novel | 783 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752146257 CA380154551 |
788 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs752146257 CA5950253 |
788 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA380154556 rs1174799264 |
789 | E>K | No |
ClinGen gnomAD |
|
|
CA380154568 rs1270384287 |
790 | T>I | No |
ClinGen gnomAD |
|
|
CA220601542 rs866509921 |
792 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 795 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5950255 rs777272905 |
801 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA220601547 rs151322536 |
802 | G>S | No |
ClinGen ESP TOPMed |
|
|
rs972558635 CA220601551 |
804 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 806 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776915729 CA5950261 |
815 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA5950263 rs770103028 |
816 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570885960 CA5950265 CA5950266 |
818 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1422366315 CA380154759 |
819 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1429787378 CA380154765 |
820 | K>E | No |
ClinGen gnomAD |
|
|
rs2227973 CA380154767 |
820 | K>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1389160082 CA380154783 |
822 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1389160082 CA380154782 |
822 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5950269 rs768001715 |
826 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA380154816 rs1304782664 |
827 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs763838960 CA5950272 |
830 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5950273 rs753382928 |
831 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380154867 rs1295452877 |
835 | T>A | No |
ClinGen gnomAD |
|
|
rs757133059 CA5950274 |
836 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA380154894 rs1293036892 |
839 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA220601632 rs104894287 |
841 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5950278 rs748296558 |
841 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1247320919 CA380154908 |
842 | K>E | No |
ClinGen gnomAD |
|
|
CA380154919 rs1229287793 |
843 | K>M | No |
ClinGen gnomAD |
|
|
rs749410483 CA5950281 |
844 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773503251 CA5950280 |
844 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs773002320 CA220601635 |
844 | M>V | No |
ClinGen Ensembl |
|
|
rs999020322 CA380154950 |
848 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs999020322 CA220601642 |
848 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs999020322 CA380154951 |
848 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs771140517 CA5950282 |
849 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5950283 rs774757762 |
850 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA5950285 rs142345523 |
851 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 852 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760255456 CA5950287 |
852 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359107780 CA380155041 |
854 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA219830 VAR_025986 rs199474690 RCV000059572 |
855 | N>I | probable disease-associated variant found in a patient with severe combined immunodeficiency with maternal fetal engraftment [UniProt] | No |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs199474690 CA16619318 RCV000480355 |
855 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs753534445 CA5950289 |
857 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs376140107 CA5950288 |
857 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA220601665 rs1014725960 |
860 | L>F | No |
ClinGen TOPMed |
|
|
rs1014725960 CA380155121 |
860 | L>V | No |
ClinGen TOPMed |
|
|
rs764967774 CA5950292 CA5950291 |
861 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA380155144 rs758236480 |
863 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5950293 rs758236480 |
863 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1204195346 CA380155150 |
864 | E>* | No |
ClinGen gnomAD |
|
|
rs1564989958 CA380155161 |
865 | T>I | No |
ClinGen Ensembl |
|
|
rs970428951 CA220601673 |
867 | D>A | No |
ClinGen Ensembl |
|
|
rs1022967472 COSM428956 CA220601672 |
867 | D>N | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA380155176 rs1243700985 |
868 | A>S | No |
ClinGen gnomAD |
|
|
rs201313833 CA220601680 |
869 | V>I | No |
ClinGen gnomAD |
|
|
CA5950296 rs756228686 |
871 | E>K | No |
ClinGen ExAC gnomAD |
|
| rs1195836361 | 872 | L>* | Variant assessed as Somatic; 4.636e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749360497 CA5950298 |
872 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA220601690 rs866862677 |
874 | P>L | No |
ClinGen Ensembl |
|
|
rs1438768762 CA380155250 |
879 | H>L | No |
ClinGen TOPMed |
|
|
rs764301645 CA380155259 |
880 | E>D | No |
ClinGen gnomAD |
|
|
rs1460168150 CA380155267 |
882 | L>V | No |
ClinGen TOPMed |
|
|
CA5950303 rs761022716 |
883 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 884 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199474691 CA5950304 |
885 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418074491 CA380155293 |
886 | M>I | No |
ClinGen TOPMed |
|
|
rs776061406 CA5950305 |
886 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380155303 rs1451649643 |
888 | L>F | No |
ClinGen gnomAD |
|
|
rs1205052984 CA380155306 |
888 | L>P | No |
ClinGen gnomAD |
|
|
CA5950307 rs765020808 |
894 | P>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 894 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478726488 CA380134860 COSM542378 |
895 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA380134957 rs1410070101 |
902 | A>D | No |
ClinGen gnomAD |
|
|
rs781486760 CA5950309 |
905 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA220564459 rs781486760 |
905 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs751516868 CA5950311 |
906 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA380135009 rs1590704274 |
906 | P>S | No |
ClinGen Ensembl |
|
|
rs1413331471 CA380135032 |
907 | E>D | No |
ClinGen gnomAD |
|
|
rs754931922 CA5950312 |
909 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA220564489 rs910898450 |
911 | Q>R | No |
ClinGen Ensembl |
|
|
CA675985027 rs1317208073 |
912 | Y>* | No |
ClinGen TOPMed |
|
| TCGA novel | 913 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380135127 rs1287281208 |
914 | F>L | No |
ClinGen gnomAD |
|
|
rs1409629070 CA380135123 |
914 | F>S | No |
ClinGen gnomAD |
|
|
CA5950316 rs368073575 |
918 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753962790 CA380135177 |
918 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564990107 CA380135187 |
919 | F>V | No |
ClinGen Ensembl |
|
|
CA5950318 rs772492017 |
921 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs746032063 CA5950317 |
921 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5950319 rs780351179 |
922 | L>I | No |
ClinGen ExAC |
|
| TCGA novel | 924 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380135290 rs1249862287 |
927 | F>S | No |
ClinGen gnomAD |
|
|
rs1332456094 CA380135322 |
929 | Y>C | No |
ClinGen TOPMed |
|
|
CA380135318 rs1200227197 |
929 | Y>H | No |
ClinGen gnomAD |
|
|
CA220564564 rs895966346 |
930 | R>S | No |
ClinGen Ensembl |
|
|
CA220564567 rs75591129 |
931 | Y>S | No |
ClinGen Ensembl |
|
|
CA380135366 rs1377077324 |
933 | G>V | No |
ClinGen gnomAD |
|
|
rs950170097 CA220564577 |
934 | K>E | No |
ClinGen gnomAD |
|
|
CA380135395 rs1420891874 |
936 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1306622509 CA380135407 |
937 | N>H | No |
ClinGen gnomAD |
|
|
rs905944419 CA220564606 |
939 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5950327 rs766047869 |
946 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA220564617 rs377118671 |
948 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs759346767 CA5950329 |
953 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 954 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5950330 rs182385524 |
956 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375775893 CA220564628 |
957 | G>V | No |
ClinGen Ensembl |
|
|
CA5950331 rs752586415 |
957 | G>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 958 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380135694 rs1266972632 |
959 | W>* | No |
ClinGen gnomAD |
|
|
rs897086171 CA220564650 |
960 | A>T | No |
ClinGen gnomAD |
|
|
rs1241756948 CA380135720 |
960 | A>V | No |
ClinGen gnomAD |
|
|
CA380135744 rs750498709 |
961 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750498709 CA5950334 |
961 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5950335 rs758607380 |
962 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5950336 rs780298593 |
963 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1384545687 CA380135994 |
973 | R>H | Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380136003 rs1319784061 |
974 | F>L | No |
ClinGen gnomAD |
|
|
rs150739647 CA5950338 |
975 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA220564740 rs748988912 |
979 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 980 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 984 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5950341 rs748811869 |
985 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772921461 CA5950340 |
985 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 987 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774019296 CA5950343 |
987 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA5950344 rs759277319 |
988 | E>K | No |
ClinGen ExAC |
|
| TCGA novel | 990 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424729647 CA380136386 |
993 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs767285105 CA5950345 |
993 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA220564825 rs760674116 |
995 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA380136415 rs1367517197 |
995 | W>G | No |
ClinGen gnomAD |
|
|
rs760674116 CA5950347 |
995 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA5950351 rs750549620 |
1001 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5950352 rs576254017 |
1002 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1241376248 CA380136584 |
1003 | Q>* | No |
ClinGen gnomAD |
|
|
rs751756460 CA5950354 |
1006 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs781632019 CA380136697 |
1007 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA5950355 rs755307891 |
1007 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA220564907 rs200043512 |
1009 | H>R | No |
ClinGen Ensembl |
|
|
rs756740796 CA5950358 |
1011 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA220564946 rs764282074 |
1014 | T>N | No |
ClinGen Ensembl |
|
| TCGA novel | 1017 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748782315 CA5950360 |
1018 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA380136870 rs1471962137 |
1019 | M>T | No |
ClinGen gnomAD |
|
|
CA380136863 rs1412297929 |
1019 | M>V | No |
ClinGen gnomAD |
|
|
rs1156384693 CA380136906 |
1021 | P>S | No |
ClinGen gnomAD |
|
|
rs745458919 CA5950363 |
1024 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5950367 rs369891733 |
1030 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773086565 CA220565035 |
1030 | G>C | No |
ClinGen Ensembl |
|
|
rs369891733 CA5950366 |
1030 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760586412 CA5950369 |
1031 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315262612 CA380137078 |
1031 | I>T | No |
ClinGen TOPMed |
|
|
rs564612752 CA5950368 |
1031 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766420242 CA5950370 |
1033 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380137107 rs1285348910 |
1033 | D>N | No |
ClinGen gnomAD |
|
|
CA380137135 rs1307163755 |
1035 | L>P | No |
ClinGen gnomAD |
|
|
rs759867032 CA5950372 |
1037 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs759867032 CA380137145 |
1037 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5950373 rs767836814 |
1037 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs377660600 CA5950374 |
1039 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380137159 rs1230617295 |
1039 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1230617295 CA380137161 |
1039 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756510053 CA5950375 |
1041 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1042 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1042 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1044552081 CA220565140 |
1043 | F>I | No |
ClinGen Ensembl |
4 associated diseases with P15918
[MIM: 233650]: Combined cellular and humoral immune defects with granulomas (CHIDG)
Immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue on ultrasonography. {ECO:0000269|PubMed:18463379}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 601457]: Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID)
A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269|PubMed:19912631, ECO:0000269|PubMed:8810255}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 603554]: Omenn syndrome (OS)
Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels. {ECO:0000269|PubMed:10606976, ECO:0000269|PubMed:11133745, ECO:0000269|PubMed:19912631, ECO:0000269|PubMed:21624848, ECO:0000269|PubMed:21771083, ECO:0000269|PubMed:9630231}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 609889]: Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity (T-CMVA)
An immunological disorder characterized by oligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminated cytomegalovirus infection and autoimmune cytopenia. {ECO:0000269|PubMed:16276422}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue on ultrasonography. {ECO:0000269|PubMed:18463379}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269|PubMed:19912631, ECO:0000269|PubMed:8810255}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels. {ECO:0000269|PubMed:10606976, ECO:0000269|PubMed:11133745, ECO:0000269|PubMed:19912631, ECO:0000269|PubMed:21624848, ECO:0000269|PubMed:21771083, ECO:0000269|PubMed:9630231}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An immunological disorder characterized by oligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminated cytomegalovirus infection and autoimmune cytopenia. {ECO:0000269|PubMed:16276422}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for P15918
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, RING-type | 293 - 332 | IPR001841 |
| conserved_site | Zinc finger, RING-type, conserved site | 308 - 317 | IPR017907 |
| domain | V(D)J recombination-activating protein 1, Zinc finger | 354 - 383 | IPR019485 |
| domain | RAG nonamer-binding domain | 392 - 459 | IPR023336 |
| domain | RAG1 importin-binding | 12 - 291 | IPR035714 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.27 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| DNA recombinase complex | A protein-DNA complex consisting of a higher-order oligomer of strand exchange proteins (recombinases) on single-stranded DNA. |
| endodeoxyribonuclease complex | A protein complex which is capable of endodeoxyribonuclease activity. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| endonuclease activity | Catalysis of the hydrolysis of ester linkages within nucleic acids by creating internal breaks. |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
| metal ion binding | Binding to a metal ion. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| sequence-specific DNA binding | Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding. |
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
| ubiquitin-protein transferase activity | Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages. |
| zinc ion binding | Binding to a zinc ion (Zn). |
17 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 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. |
| chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
| DNA recombination | Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. |
| histone monoubiquitination | The modification of histones by addition of a single ubiquitin group. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| negative regulation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of a cysteine-type endopeptidase activity involved in the apoptotic process. |
| negative regulation of thymocyte apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of thymocyte death by apoptotic process. |
| positive regulation of T cell differentiation | Any process that activates or increases the frequency, rate or extent of T cell differentiation. |
| pre-B cell allelic exclusion | Expression of a single heavy chain allele during pre-B cell differentiation. |
| protein autoubiquitination | The ubiquitination by a protein of one or more of its own amino acid residues, or residues on an identical protein. Ubiquitination occurs on the lysine residue by formation of an isopeptide crosslink. |
| regulation of behavioral fear response | Any process that modulates the frequency, rate or extent of behavioral fear response. |
| T cell differentiation in thymus | The process in which a precursor cell type acquires the specialized features of a T cell via a differentiation pathway dependent upon transit through the thymus. |
| T cell homeostasis | The process of regulating the proliferation and elimination of T cells such that the total number of T cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. |
| thymus development | The process whose specific outcome is the progression of the thymus over time, from its formation to the mature structure. The thymus is a symmetric bi-lobed organ involved primarily in the differentiation of immature to mature T cells, with unique vascular, nervous, epithelial, and lymphoid cell components. |
| V(D)J recombination | The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). |
| visual learning | Any process in an organism in which a change in behavior of an individual occurs in response to repeated exposure to a visual cue. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAASFPPTLG | LSSAPDEIQH | PHIKFSEWKF | KLFRVRSFEK | TPEEAQKEKK | DSFEGKPSLE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QSPAVLDKAD | GQKPVPTQPL | LKAHPKFSKK | FHDNEKARGK | AIHQANLRHL | CRICGNSFRA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DEHNRRYPVH | GPVDGKTLGL | LRKKEKRATS | WPDLIAKVFR | IDVKADVDSI | HPTEFCHNCW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SIMHRKFSSA | PCEVYFPRNV | TMEWHPHTPS | CDICNTARRG | LKRKSLQPNL | QLSKKLKTVL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DQARQARQHK | RRAQARISSK | DVMKKIANCS | KIHLSTKLLA | VDFPEHFVKS | ISCQICEHIL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ADPVETNCKH | VFCRVCILRC | LKVMGSYCPS | CRYPCFPTDL | ESPVKSFLSV | LNSLMVKCPA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KECNEEVSLE | KYNHHISSHK | ESKEIFVHIN | KGGRPRQHLL | SLTRRAQKHR | LRELKLQVKA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FADKEEGGDV | KSVCMTLFLL | ALRARNEHRQ | ADELEAIMQG | KGSGLQPAVC | LAIRVNTFLS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CSQYHKMYRT | VKAITGRQIF | QPLHALRNAE | KVLLPGYHHF | EWQPPLKNVS | SSTDVGIIDG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LSGLSSSVDD | YPVDTIAKRF | RYDSALVSAL | MDMEEDILEG | MRSQDLDDYL | NGPFTVVVKE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SCDGMGDVSE | KHGSGPVVPE | KAVRFSFTIM | KITIAHSSQN | VKVFEEAKPN | SELCCKPLCL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MLADESDHET | LTAILSPLIA | EREAMKSSEL | MLELGGILRT | FKFIFRGTGY | DEKLVREVEG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LEASGSVYIC | TLCDATRLEA | SQNLVFHSIT | RSHAENLERY | EVWRSNPYHE | SVEELRDRVK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GVSAKPFIET | VPSIDALHCD | IGNAAEFYKI | FQLEIGEVYK | NPNASKEERK | RWQATLDKHL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RKKMNLKPIM | RMNGNFARKL | MTKETVDAVC | ELIPSEERHE | ALRELMDLYL | KMKPVWRSSC |
| 910 | 920 | 930 | 940 | 950 | 960 |
| PAKECPESLC | QYSFNSQRFA | ELLSTKFKYR | YEGKITNYFH | KTLAHVPEII | ERDGSIGAWA |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SEGNESGNKL | FRRFRKMNAR | QSKCYEMEDV | LKHHWLYTSK | YLQKFMNAHN | ALKTSGFTMN |
| 1030 | 1040 | ||||
| PQASLGDPLG | IEDSLESQDS | MEF |