P51788
PR
Gene name |
CLCN2 |
Protein name |
Chloride channel protein 2 |
Names |
ClC-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1181 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
9 structures for P51788
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7XF5 | EM | 390 A | A/B | 1-898 | PDB |
| 7XJA | EM | 350 A | A/B | 1-898 | PDB |
| 8GQU | EM | 350 A | A/B | 1-898 | PDB |
| 8TA2 | EM | 274 A | A/B | 88-566 | PDB |
| 8TA3 | EM | 246 A | A/B | 1-898 | PDB |
| 8TA4 | EM | 275 A | A/B | 1-898 | PDB |
| 8TA5 | EM | 276 A | A/B | 1-898 | PDB |
| 8TA6 | EM | 403 A | A/B | 1-898 | PDB |
| AF-P51788-F1 | Predicted | AlphaFoldDB |
801 variants for P51788
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs758379595 RCV000515911 CA355458497 VAR_081154 |
22 | M>K | Familial hyperaldosteronism type II HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000584655 VAR_081155 rs1085307938 RCV000489700 CA355458481 |
24 | G>D | Familial hyperaldosteronism type II HALD2; increased voltage-gated chloride currents; increased aldosterone synthase expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000516045 CA355458474 VAR_081156 rs1553857113 |
26 | Y>N | Familial hyperaldosteronism type II HALD2; increased voltage-gated chloride currents due to higher channel open probabilitiesat at physiological cell membrane potentials [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000201812 CA347617 rs863225247 |
44 | G>R | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000514447 CA347652 RCV000201833 rs115661422 RCV001727632 VAR_057886 |
48 | P>R | Leukoencephalopathy with mild cerebellar ataxia and white matter edema reduces channel activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000201802 CA347602 rs61729156 VAR_057887 RCV001729454 RCV000514484 |
68 | R>H | Leukoencephalopathy with mild cerebellar ataxia and white matter edema reduces channel activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000951543 CA347619 rs144412275 RCV000201813 RCV000727623 |
73 | R>H | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA347646 RCV000201829 rs140463309 RCV001753606 |
82 | F>L | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs863225249 RCV000201841 CA347663 |
98 | G>R | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs770392085 RCV000735233 CA355457155 |
139 | T>P | Epilepsy, idiopathic generalized, susceptibility to, 11 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587777110 RCV000087030 |
144 | L>missing | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_070976 | 144 | L>del | LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reached the plasma membrane; lower amounts of the mutant protein compared to wild-type [UniProt] | Yes | UniProt |
|
CA355456938 COSM3392248 rs1293789661 RCV000516109 VAR_081157 RCV002481647 |
172 | R>Q | Epilepsy, idiopathic generalized, susceptibility to, 11 pancreas Familial hyperaldosteronism type II HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials; increased aldosterone synthase expression [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
CA2734465 RCV001251725 rs780553073 |
178 | E>K | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA347630 RCV000201820 rs863225248 VAR_057888 |
199 | G>A | Leukoencephalopathy with mild cerebellar ataxia and white matter edema no effect [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000201815 rs515726131 RCV000009602 |
200 | M>missing | Epilepsy, juvenile myoclonic 8 Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2734417 RCV000907900 RCV003169275 rs146078508 |
212 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000490413 RCV000009605 RCV000765717 CA120066 RCV000514822 VAR_057889 rs71318369 RCV000201836 |
235 | R>Q | Epilepsy, idiopathic generalized, susceptibility to, 11 Epilepsy, idiopathic generalized, susceptibility to, 11 (eig11) Epilepsy, juvenile myoclonic 8 Leukoencephalopathy with mild cerebellar ataxia and white matter edema EJM8; associated with disease susceptibility; the mutant channel has accelerated deactivation rates compared to wild-type, but normal activation and peak current [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs143751880 RCV002489503 RCV000998174 RCV001772181 RCV002252294 CA2734387 |
240 | L>P | Epilepsy, idiopathic generalized, susceptibility to, 11 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA355455731 rs1553856477 RCV000626861 |
247 | G>V | Cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757549500 RCV000735368 CA2734351 |
259 | V>I | Variant assessed as Somatic; 0.0 impact. Cognitive impairment [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000087032 rs587777112 |
277 | R>missing | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201803 CA347604 rs863225250 |
309 | R>* | Variant assessed as Somatic; impact. Leukoencephalopathy with mild cerebellar ataxia and white matter edema [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1245141384 RCV001335132 |
329 | I>missing | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002548281 CA2734271 rs150991495 RCV000960762 |
330 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs532632165 CA347626 RCV000201818 |
339 | V>L | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA355453812 rs1553856214 RCV000515845 |
362 | K>* | Familial hyperaldosteronism type II [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081158 | 362 | K>del | HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials [UniProt] | Yes | UniProt |
|
RCV000201830 rs863225251 |
375 | S>missing | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000951898 RCV002489306 RCV003169468 rs141605519 CA2734222 |
381 | P>A | Epilepsy, idiopathic generalized, susceptibility to, 11 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000486791 rs863225252 RCV000201805 |
382 | G>A | Variant assessed as Somatic; 0.0 impact. Leukoencephalopathy with mild cerebellar ataxia and white matter edema [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs863225253 RCV000201817 |
435 | L>missing | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772617403 RCV001251726 |
458 | A>G | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA347654 rs863225254 RCV001853245 RCV000201834 |
466 | G>E | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002277555 rs771507094 CA347614 RCV000201810 |
471 | R>H | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000201819 rs863225255 |
475 | E>missing | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587777111 VAR_070977 RCV000087031 CA345448 |
500 | A>V | Leukoencephalopathy with mild cerebellar ataxia and white matter edema LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reaches the plasma membrane; lower amounts of the mutant protein compared to wild-type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA347608 rs777105668 RCV000201806 |
503 | G>R | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA355450042 RCV001731114 rs1458831101 |
517 | T>M | Epilepsy, idiopathic generalized, susceptibility to, 11 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000087029 RCV002490754 rs201330912 CA345444 RCV000599144 |
570 | W>* | Epilepsy, idiopathic generalized, susceptibility to, 11 Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000201800 CA120068 VAR_057890 RCV001794440 RCV000009606 RCV001348159 rs137852682 |
577 | R>Q | Epilepsy, idiopathic generalized, susceptibility to, 11 Epilepsy, idiopathic generalized, susceptibility to, 11 (eig11) Leukoencephalopathy with mild cerebellar ataxia and white matter edema EIG11; associated with disease susceptibility; the mutant channel has accelerated deactivation rates compared to wild-type, but normal activation and peak current [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
COSM215897 CA347667 RCV000784971 RCV001566505 rs141242566 RCV000201843 |
599 | D>N | central_nervous_system Leukoencephalopathy with mild cerebellar ataxia and white matter edema [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_057891 rs148545588 CA347659 RCV000201838 RCV002492928 RCV001496216 |
644 | R>C | Epilepsy, idiopathic generalized, susceptibility to, 11 Leukoencephalopathy with mild cerebellar ataxia and white matter edema no effect [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2733935 rs375401465 RCV001329866 |
645 | R>Q | Familial hyperaldosteronism type II [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000201809 RCV000878619 CA347612 RCV000678790 VAR_057892 rs115961753 RCV002492929 |
646 | R>Q | Epilepsy, idiopathic generalized, susceptibility to, 11 Leukoencephalopathy with mild cerebellar ataxia and white matter edema reduces channel activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000201808 rs863225256 CA347610 |
653 | R>* | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001511096 RCV000201825 CA347638 rs9820367 VAR_054550 |
668 | T>S | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA249171 RCV001518561 RCV000201839 rs111656822 RCV000613314 RCV000202972 |
688 | R>Q | Epilepsy, idiopathic generalized, susceptibility to, 11 Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000009604 rs137852681 RCV000201807 CA120064 VAR_015989 |
715 | G>E | Epilepsy, juvenile absence 2 Leukoencephalopathy with mild cerebellar ataxia and white matter edema JAE2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs2228292 RCV000203168 VAR_054551 RCV000201823 RCV001518560 CA249369 |
718 | E>D | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000422010 VAR_057893 RCV001251939 CA347669 RCV000201844 rs114702742 |
725 | R>W | Intellectual disability Leukoencephalopathy with mild cerebellar ataxia and white matter edema slightly faster channel activation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000201814 VAR_057894 rs144164281 RCV001251727 CA347621 RCV000983908 |
747 | R>H | Intellectual disability Leukoencephalopathy with mild cerebellar ataxia and white matter edema slightly faster channel activation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000201826 rs753380048 CA347640 |
758 | S>N | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000201840 CA347661 RCV002515478 RCV002485330 rs781034991 |
760 | A>V | Epilepsy, idiopathic generalized, susceptibility to, 11 Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs376823689 RCV000201824 RCV000760736 CA347636 |
796 | Q>* | Leukoencephalopathy with mild cerebellar ataxia and white matter edema [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000515901 VAR_081159 CA355444204 rs1553853557 |
865 | S>R | Familial hyperaldosteronism type II HALD2; increased voltage-gated chloride currents due to higher channel open probabilities at physiological cell membrane potentials [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1448369285 CA355458664 |
2 | A>P | No |
ClinGen gnomAD |
|
|
CA355458659 rs1286053374 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs776092377 CA2734639 |
3 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2734636 rs772579424 |
6 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs960790351 CA88902420 |
9 | G>R | No |
ClinGen TOPMed |
|
|
rs777742744 CA2734631 |
10 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA355458615 rs757482176 CA2734633 |
10 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749506448 CA2734632 |
10 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA355458605 rs1299082645 |
11 | E>A | No |
ClinGen gnomAD |
|
|
rs1399444274 CA355458599 |
12 | P>S | No |
ClinGen gnomAD |
|
|
rs756167245 CA2734630 |
13 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358773420 CA355458594 |
13 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA2734629 rs370338899 |
14 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1172740273 CA355458579 |
16 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 16 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355458564 rs1171218806 |
18 | E>Q | No |
ClinGen gnomAD |
|
|
CA2734609 rs758379595 |
22 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2734608 COSM122180 rs151257924 |
25 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1378624035 CA355458477 |
25 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs778602293 CA2734607 |
27 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA355458445 rs1331136404 |
30 | L>V | No |
ClinGen gnomAD |
|
|
rs753448120 CA2734605 |
32 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355458410 rs1165093104 |
35 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1560267999 CA355458405 |
36 | E>Q | No |
ClinGen Ensembl |
|
|
CA2734603 rs760403281 |
38 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2734601 rs767116666 |
40 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752317317 CA2734602 |
40 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2734600 COSM1421372 rs760164094 |
42 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2734599 rs774868942 |
42 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355458367 rs774868942 |
42 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774868942 CA355458366 |
42 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88900217 rs986050814 |
43 | L>P | No |
ClinGen TOPMed |
|
|
CA2734598 rs771210575 |
44 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773441419 CA2734596 |
47 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs763306383 CA2734597 |
47 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs115661422 CA355458336 |
48 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1348396621 CA355458337 |
48 | P>S | No |
ClinGen TOPMed |
|
|
rs748348074 CA2734595 |
49 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1378321232 CA355458315 |
51 | G>A | No |
ClinGen gnomAD |
|
|
CA355458316 rs1467574530 |
51 | G>C | No |
ClinGen gnomAD |
|
|
CA2734594 rs184790106 |
52 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1293737920 CA355458302 |
53 | P>L | No |
ClinGen gnomAD |
|
|
rs1457106981 CA355458290 |
55 | S>F | No |
ClinGen gnomAD |
|
|
CA2734592 rs745828736 |
56 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2734593 rs199956757 |
56 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA355458285 rs1560267812 |
57 | A>T | No |
ClinGen Ensembl |
|
|
rs1461511449 CA355458280 |
58 | A>T | No |
ClinGen TOPMed |
|
|
rs778854085 CA2734591 |
59 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1184538669 CA355458268 |
60 | E>K | No |
ClinGen TOPMed |
|
|
rs1577327157 CA355458244 |
63 | E>G | No |
ClinGen Ensembl |
|
|
CA2734587 rs755883734 |
66 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777420720 CA2734588 |
66 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2734585 rs767170046 |
67 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs373741133 CA2734584 |
67 | S>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2734583 rs752010877 |
68 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773674848 CA2734581 |
69 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355458208 rs765555186 |
69 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773674848 CA2734582 |
69 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2734579 rs762051878 |
70 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355458205 rs1280055840 |
70 | A>V | No |
ClinGen TOPMed |
|
|
rs1055985062 CA88900084 |
71 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs768738193 CA355458201 |
71 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA2734577 rs768738193 COSM209043 |
71 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs747046253 CA2734576 |
73 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144412275 CA2734575 |
73 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781119045 CA2734550 |
74 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs900043851 CA88900063 |
74 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1275965210 CA355458082 |
76 | S>F | No |
ClinGen gnomAD |
|
|
rs1246315600 CA355458075 |
77 | V>I | No |
ClinGen gnomAD |
|
|
rs746609426 CA2734549 |
78 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867302883 CA355458052 |
78 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs867302883 CA88899881 |
78 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs746609426 CA2734548 |
78 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402117707 CA355458035 |
79 | C>Y | No |
ClinGen gnomAD |
|
|
CA355457997 rs1466294902 |
80 | H>P | No |
ClinGen gnomAD |
|
|
rs779644166 CA2734547 |
80 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1369184154 CA355457876 |
85 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA88899859 rs1008505322 |
86 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 86 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765667402 CA2734545 |
87 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs952066889 CA88899858 |
88 | G>A | No |
ClinGen TOPMed |
|
|
rs117247760 CA2734543 |
90 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1271070161 CA355457739 |
93 | F>L | No |
ClinGen TOPMed |
|
|
CA355457674 rs1356370530 |
99 | L>F | No |
ClinGen gnomAD |
|
|
rs1264352220 CA355457652 |
100 | L>F | No |
ClinGen gnomAD |
|
|
CA355457630 rs1490669045 |
101 | M>I | No |
ClinGen TOPMed |
|
|
CA2734539 RCV000678789 rs546781274 |
101 | M>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1368619799 CA355457634 |
101 | M>V | No |
ClinGen gnomAD |
|
|
CA355457619 rs1309947327 |
102 | A>S | No |
ClinGen gnomAD |
|
|
rs1327085033 CA355457561 |
105 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1391497187 CA355457541 |
106 | W>* | No |
ClinGen gnomAD |
|
|
rs774565001 CA2734537 |
107 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA2734536 rs769908303 |
108 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355457426 rs1439459140 |
111 | A>V | No |
ClinGen gnomAD |
|
|
rs1553856848 CA355457388 |
113 | A>V | No |
ClinGen Ensembl |
|
|
CA355457374 rs1200465467 |
115 | C>G | No |
ClinGen gnomAD |
|
|
rs1451853303 CA355457368 |
115 | C>Y | No |
ClinGen gnomAD |
|
|
rs1219593638 CA355457347 |
117 | Q>* | No |
ClinGen gnomAD |
|
|
CA355457340 rs1194159297 |
117 | Q>L | No |
ClinGen TOPMed |
|
|
CA355457330 rs1286641054 |
118 | A>T | No |
ClinGen gnomAD |
|
|
rs1199578809 CA355457282 |
120 | Q>* | No |
ClinGen TOPMed |
|
|
rs1577325385 CA355457268 |
121 | W>C | No |
ClinGen Ensembl |
|
|
rs202031742 COSM1693891 CA2734519 |
123 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs139188499 CA2734518 |
124 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768509735 CA2734516 |
124 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2734517 rs139188499 |
124 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355457248 rs1577325338 |
125 | G>A | No |
ClinGen Ensembl |
|
|
CA2734513 rs771680505 |
130 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88899601 rs534349434 |
132 | L>P | No |
ClinGen gnomAD |
|
|
rs770392085 CA2734510 |
139 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA355457099 rs1364293163 |
147 | F>L | No |
ClinGen TOPMed |
|
|
CA355457092 rs1210803986 |
149 | A>T | No |
ClinGen gnomAD |
|
|
rs753057485 CA2734506 |
150 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2734505 rs781595916 |
150 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs755288143 CA2734504 |
152 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2734503 rs751790331 |
153 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2734502 rs766586475 |
155 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286450916 CA355457048 |
156 | A>D | No |
ClinGen gnomAD |
|
|
rs753830724 CA2734500 |
158 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 159 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355457027 rs1340173349 |
159 | A>V | No |
ClinGen gnomAD |
|
|
CA355457025 rs1560266314 |
160 | V>I | No |
ClinGen Ensembl |
|
|
rs760648143 CA2734498 |
161 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759271901 CA2734476 |
164 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs762567488 CA2734473 |
165 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs772634332 CA355456956 |
169 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355456953 rs769305023 |
169 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2734472 rs772634332 |
169 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2734471 rs769305023 |
169 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748622894 CA2734470 |
170 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA355456944 rs1221670794 |
171 | L>* | No |
ClinGen gnomAD |
|
|
rs769146540 CA2734468 |
172 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs879097776 CA88899370 |
174 | V>G | No |
ClinGen Ensembl |
|
|
CA355456905 rs780553073 |
178 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420234489 CA355456888 |
180 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355456824 rs1228832378 |
185 | F>V | No |
ClinGen TOPMed |
|
|
CA88899354 rs956240636 |
187 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs778892438 CA2734462 |
189 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs752593608 CA2734460 |
190 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2734461 rs757313396 |
190 | I>V | No |
ClinGen ExAC |
|
|
CA2734459 rs781045089 |
193 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781045089 CA355456707 |
193 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA355456701 rs1490190440 |
194 | C>S | No |
ClinGen gnomAD |
|
|
rs754909914 CA355456690 |
194 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2734457 rs751400185 COSM1248376 |
195 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA355456675 rs1488918383 |
195 | A>V | No |
ClinGen gnomAD |
|
|
rs1214048963 CA355456648 |
198 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs863225248 CA355456626 |
199 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2734455 rs762541313 |
199 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750040380 CA2734454 |
201 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2734452 rs140103598 |
202 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA88899247 rs776760372 |
203 | G>V | No |
ClinGen Ensembl |
|
|
rs1239606338 CA355456501 |
206 | G>R | No |
ClinGen gnomAD |
|
|
rs1577324137 CA355456478 |
208 | F>S | No |
ClinGen Ensembl |
|
|
rs1249149938 CA355456482 |
208 | F>V | No |
ClinGen gnomAD |
|
|
rs1231932098 CA355456471 |
209 | V>M | No |
ClinGen gnomAD |
|
|
CA355456449 rs1232762048 |
210 | H>R | No |
ClinGen TOPMed |
|
|
CA2734418 rs370199115 |
211 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA88899117 rs146078508 |
212 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1480184505 CA355456365 |
214 | M>I | No |
ClinGen TOPMed |
|
|
CA355456323 rs1174540986 |
216 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 216 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 217 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2734416 rs753502249 |
220 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1408624169 CA355456260 |
220 | S>N | No |
ClinGen TOPMed |
|
|
rs763720430 CA2734415 |
222 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753263629 CA2734413 |
225 | L>F | No |
ClinGen ExAC |
|
|
rs1288360887 CA355456159 |
226 | F>L | No |
ClinGen TOPMed |
|
|
CA355456142 rs774832002 |
227 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs774832002 CA2734409 |
227 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1344321918 CA355456121 |
228 | G>D | No |
ClinGen TOPMed |
|
|
rs1166252694 CA355456137 |
228 | G>S | No |
ClinGen gnomAD |
|
|
CA2734408 rs766609731 |
229 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs766609731 CA355456112 |
229 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2734407 rs142968399 |
230 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355456087 rs1386369120 |
230 | Y>H | No |
ClinGen gnomAD |
|
|
CA2734390 rs763234659 |
233 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355455921 rs1402503229 |
234 | S>Y | No |
ClinGen TOPMed |
|
|
CA2734389 rs199782817 |
235 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1331258576 CA355455854 COSM1421369 |
238 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA355455809 rs1348359199 CA355455804 |
239 | M>I | No |
ClinGen gnomAD |
|
|
CA355455814 rs1560265129 |
239 | M>T | No |
ClinGen Ensembl |
|
|
rs1284930591 CA355455828 |
239 | M>V | No |
ClinGen gnomAD |
|
|
rs776821634 CA2734386 |
242 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs745848056 CA88898979 |
243 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745848056 CA2734384 |
243 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774087524 CA2734383 |
244 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2734381 rs41266269 |
246 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1345612073 CA355455735 |
247 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA88898969 rs888993250 |
248 | V>G | No |
ClinGen Ensembl |
|
|
CA2734379 rs149439531 |
253 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1642198 rs1173897230 CA355455691 |
253 | A>V | Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2734377 rs780789226 |
255 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752123927 CA2734375 |
256 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546051461 CA2734376 |
256 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA437332076 rs779280637 |
258 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA355455618 rs1389820104 |
258 | G>A | No |
ClinGen gnomAD |
|
|
rs1315415309 CA355455570 |
262 | S>G | No |
ClinGen TOPMed |
|
|
CA2734348 rs760945254 |
263 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs766646430 CA88898847 |
264 | E>K | No |
ClinGen Ensembl |
|
|
CA88898842 rs1048979027 |
266 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA355455513 rs1451535805 |
266 | T>P | No |
ClinGen gnomAD |
|
|
CA2734346 rs767679045 |
269 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA2734345 rs763003074 |
272 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 272 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2734343 rs779315327 COSM173284 |
273 | R>Q | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2734344 rs773221607 |
273 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415870442 CA355455407 |
274 | N>K | No |
ClinGen gnomAD |
|
|
CA2734342 rs574392560 |
275 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1027524389 CA88898813 COSM730208 |
277 | R>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA2734340 rs768234445 |
281 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768234445 CA355455326 |
281 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2734339 rs746653092 |
282 | A>T | No |
ClinGen ExAC |
|
|
rs1577322790 CA355455307 |
283 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 284 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560264428 CA355455249 |
289 | F>I | No |
ClinGen Ensembl |
|
|
CA2734336 rs553018579 |
290 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2734337 rs771530773 |
290 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355455214 rs1359120528 |
292 | L>V | No |
ClinGen gnomAD |
|
|
CA355455196 rs1403489112 |
293 | A>G | No |
ClinGen TOPMed |
|
|
CA355455173 rs1225884177 |
295 | W>G | No |
ClinGen gnomAD |
|
|
rs150309424 CA2734334 |
297 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355455143 rs1373571184 |
297 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1391339976 CA355455115 |
299 | E>A | No |
ClinGen TOPMed |
|
|
rs1162445428 CA355455046 |
301 | T>I | No |
ClinGen gnomAD |
|
|
rs1165266521 CA355455044 |
302 | I>V | No |
ClinGen Ensembl |
|
|
rs763800521 CA2734300 |
303 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763800521 CA355455035 |
303 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213149009 CA355455032 |
304 | A>P | No |
ClinGen gnomAD |
|
|
CA2734299 rs760459952 |
304 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1263414169 CA355455027 |
305 | L>V | No |
ClinGen gnomAD |
|
|
rs863225250 CA355454204 |
309 | R>G | No |
ClinGen gnomAD |
|
|
rs775250519 CA2734298 |
309 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382714741 CA355454174 |
311 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs537301298 CA2734297 |
311 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201389105 CA2734296 |
312 | L>F | No |
ClinGen 1000Genomes ExAC |
|
|
CA2734294 rs757494232 |
313 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763396786 CA2734293 |
315 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA355454107 rs1577322158 |
317 | D>A | No |
ClinGen Ensembl |
|
|
rs770192441 CA2734291 |
319 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA2734290 rs748592708 |
320 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1482673466 CA355454079 |
321 | L>P | No |
ClinGen gnomAD |
|
|
rs1173120241 CA355454053 |
325 | A>V | No |
ClinGen gnomAD |
|
|
rs142192594 CA2734288 |
327 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777160841 CA2734272 |
329 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs369933204 CA2734269 |
331 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2734268 rs547043633 |
333 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1425035998 CA355453989 |
334 | G>D | No |
ClinGen Ensembl |
|
|
rs187027313 CA2734266 |
334 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 339 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200795200 CA2734264 |
340 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1338889021 CA355453937 |
342 | N>K | No |
ClinGen gnomAD |
|
|
CA2734262 rs142608726 |
343 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2734263 rs780992089 |
343 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355453925 rs1183510207 |
344 | K>N | No |
ClinGen TOPMed |
|
|
rs201026086 CA2734261 |
345 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88897494 rs936148775 |
347 | Q>* | No |
ClinGen Ensembl |
|
|
CA355453901 rs1577321718 |
348 | V>G | No |
ClinGen Ensembl |
|
|
CA2734260 rs766127337 |
348 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA355453877 rs1366529593 |
352 | Q>E | No |
ClinGen gnomAD |
|
|
rs564297329 CA2734259 |
353 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs932667318 CA88897483 |
354 | T>A | No |
ClinGen TOPMed |
|
|
rs1348381454 CA355453859 |
354 | T>I | No |
ClinGen gnomAD |
|
|
rs764793623 CA2734257 |
356 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2734255 rs777212047 |
357 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777212047 CA2734256 |
357 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs761178496 CA2734253 |
358 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs775713685 CA2734252 |
361 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2734251 rs552353592 |
362 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1434989972 CA355453688 |
363 | R>C | No |
ClinGen gnomAD |
|
|
rs569883424 CA2734233 COSM3331344 |
367 | P>L | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA2734230 rs749440331 |
373 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355453551 rs1178211128 |
376 | T>A | No |
ClinGen gnomAD |
|
|
CA2734229 rs773249631 |
376 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA2734227 rs746875118 |
377 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA2734226 rs374865249 |
378 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355453532 rs1463424485 |
379 | F>L | No |
ClinGen gnomAD |
|
|
rs745547651 CA355453536 |
379 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1365633586 CA355453535 |
379 | F>S | No |
ClinGen gnomAD |
|
|
rs745547651 CA2734224 |
379 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA2734223 rs778766766 |
380 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355453524 rs778766766 |
380 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763673290 CA2734221 |
381 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1217596296 | 381 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763673290 CA2734220 |
381 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88896331 rs141605519 |
381 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1217596296 | 382 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140004705 CA88896315 |
383 | F>I | No |
ClinGen ESP TOPMed |
|
|
CA355453435 rs1271357732 |
385 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA88896312 rs924281186 |
387 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA355453358 rs1355797660 |
388 | A>P | No |
ClinGen TOPMed |
|
|
rs892148758 CA88896307 |
390 | Q>R | No |
ClinGen TOPMed |
|
|
rs755509180 CA2734201 |
391 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA355453126 rs1427761392 |
392 | S>L | No |
ClinGen gnomAD |
|
|
CA355453064 rs1367424285 |
394 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1367424285 CA355453060 |
394 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 395 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2734200 rs146097084 |
395 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755482941 CA2734198 |
396 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471164411 CA355452979 |
397 | L>P | No |
ClinGen gnomAD |
|
|
CA355452971 rs1233558948 |
398 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1182031051 CA355452929 |
399 | T>N | No |
ClinGen gnomAD |
|
|
rs750150321 CA88896089 |
400 | L>Q | No |
ClinGen Ensembl |
|
|
CA2734194 rs750578412 |
403 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761858635 CA2734192 |
404 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765371999 CA2734193 |
404 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2734191 rs376497260 |
405 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2734189 rs759521929 |
406 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs774309730 CA2734188 |
407 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs770808807 CA2734187 |
408 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748950041 CA2734186 |
410 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs999686382 CA88896033 |
411 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1162900298 CA355452574 |
412 | V>A | No |
ClinGen gnomAD |
|
|
rs1162900298 CA355452581 |
412 | V>G | No |
ClinGen gnomAD |
|
|
CA355452530 rs1402687107 |
414 | E>G | No |
ClinGen gnomAD |
|
|
rs1409054552 CA355452515 |
415 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs200815093 CA2734185 |
415 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA88896025 rs200218942 |
417 | P>A | No |
ClinGen 1000Genomes |
|
|
rs73189627 CA2734183 |
417 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139603109 CA2734182 |
418 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1488336044 CA355452316 |
424 | W>C | No |
ClinGen gnomAD |
|
|
rs1245364686 CA355452262 |
426 | P>L | No |
ClinGen gnomAD |
|
|
rs369890010 CA2734180 |
428 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA355452200 rs369890010 |
428 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1267172949 CA355452199 |
429 | A>T | No |
ClinGen gnomAD |
|
|
CA88896004 rs1030561056 |
431 | V>G | No |
ClinGen gnomAD |
|
|
rs758705606 CA88896013 |
431 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2734178 rs758705606 |
431 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1290392424 CA355451983 |
436 | V>A | No |
ClinGen gnomAD |
|
|
rs757468720 CA2734175 |
436 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs753912157 CA2734174 |
437 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs150888213 CA2734173 RCV000983885 |
440 | L>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs375523946 CA2734171 |
441 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355451909 rs1455647675 |
441 | M>V | No |
ClinGen gnomAD |
|
|
rs141518215 CA88895599 |
445 | M>I | No |
ClinGen ESP |
|
|
CA355451199 rs1313772495 |
445 | M>L | No |
ClinGen gnomAD |
|
|
CA355451198 rs1465053233 |
445 | M>R | No |
ClinGen TOPMed |
|
|
rs776293738 CA2734148 |
447 | A>S | No |
ClinGen ExAC |
|
|
rs1387970312 CA355451179 |
448 | L>P | No |
ClinGen gnomAD |
|
|
rs1187581264 CA355451177 |
449 | A>T | No |
ClinGen gnomAD |
|
|
CA355451169 rs1310558734 |
450 | T>A | No |
ClinGen TOPMed |
|
|
rs367573666 CA2734146 |
453 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300379179 CA355451134 |
455 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA355451117 rs1370537338 |
456 | C>S | No |
ClinGen gnomAD |
|
|
CA355451098 rs1577317173 |
458 | A>P | No |
ClinGen Ensembl |
|
|
rs772617403 CA2734144 |
458 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs746334665 CA2734143 |
464 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 464 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2734142 rs148377547 |
465 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1560259993 CA355450752 |
468 | A>V | No |
ClinGen Ensembl |
|
|
CA2734104 rs759139694 |
470 | G>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1201282 CA2734103 rs773725525 |
471 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs773745697 CA2734101 |
473 | V>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000598550 rs1553855606 |
474 | G>missing | No |
ClinVar dbSNP |
|
|
CA2734099 rs748398548 |
477 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs770219958 CA2734100 |
477 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1274834555 CA355450616 |
480 | W>S | No |
ClinGen gnomAD |
|
|
CA355450602 rs1577316168 |
481 | F>V | No |
ClinGen Ensembl |
|
|
CA88895164 rs1038271601 |
482 | P>A | No |
ClinGen TOPMed |
|
|
CA355450557 rs1231445159 |
483 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1254810010 CA355450572 |
483 | D>N | No |
ClinGen Ensembl |
|
|
rs768757422 CA2734097 |
486 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779977170 CA2734095 |
487 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs757243632 CA355450507 |
487 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA2734094 rs757243632 |
487 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA355450471 rs1414610368 |
489 | S>C | No |
ClinGen gnomAD |
|
|
CA2734091 rs755845520 |
490 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1295390824 CA355450427 |
491 | T>I | No |
ClinGen TOPMed |
|
|
CA2734088 rs142706042 |
493 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767262596 CA2734089 |
493 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189401534 CA355450373 |
494 | I>T | No |
ClinGen gnomAD |
|
|
rs1449056504 CA355450361 |
495 | V>M | No |
ClinGen gnomAD |
|
|
CA355450315 rs1246493115 |
496 | P>S | No |
ClinGen gnomAD |
|
|
rs1212318692 CA355450294 |
497 | G>E | No |
ClinGen gnomAD |
|
|
rs1352768316 CA355450288 |
498 | G>C | No |
ClinGen TOPMed |
|
|
CA2734086 rs765755134 |
498 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765755134 CA88895058 |
498 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88895042 rs749631843 |
499 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs587777111 CA2734085 |
500 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA355450263 rs1344692578 |
500 | A>P | No |
ClinGen gnomAD |
|
|
rs1228186673 CA355450255 |
501 | V>L | No |
ClinGen gnomAD |
|
|
CA2734083 rs762339307 |
502 | V>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1577315899 CA355450235 |
502 | V>G | No |
ClinGen Ensembl |
|
|
CA355450133 rs1380051731 |
505 | A>D | No |
ClinGen TOPMed |
|
|
CA2734054 rs769768770 |
506 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576337958 CA2734052 |
507 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA355450102 rs1232361514 |
508 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs746808838 CA2734050 |
510 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2734049 COSM1042051 rs145746859 |
510 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA355450086 rs1577315238 |
511 | V>G | No |
ClinGen Ensembl |
|
|
CA2734047 rs750002907 |
513 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA355450065 rs778519053 |
515 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2734046 rs778519053 |
515 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA355450056 rs1435584894 |
516 | S>C | No |
ClinGen gnomAD |
|
|
rs754233991 CA2734044 |
517 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs761002102 CA2734042 |
520 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753100980 CA2734041 |
521 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88894721 rs779690080 |
523 | E>K | No |
ClinGen gnomAD |
|
|
rs1244554021 CA355449925 |
526 | G>D | No |
ClinGen gnomAD |
|
|
rs1210243477 CA355449909 COSM1537252 |
527 | Q>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1464914241 CA355449863 |
531 | I>V | No |
ClinGen gnomAD |
|
|
rs200337116 CA2734037 |
534 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761825582 CA2734036 |
535 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA355449813 rs1313875037 |
535 | M>V | No |
ClinGen gnomAD |
|
|
rs1218371059 CA355449793 |
536 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs768638424 CA2734034 |
537 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355449769 rs1389726486 |
538 | V>I | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2734032 rs779876583 |
542 | N>D | No |
ClinGen ExAC gnomAD |
|
|
COSM1042048 rs745479097 CA2734030 |
543 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs137978189 CA2734027 |
545 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2734026 rs137978189 |
545 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA88894665 rs745559622 |
550 | P>L | No |
ClinGen Ensembl |
|
|
CA355449597 rs1190957341 |
551 | S>T | No |
ClinGen gnomAD |
|
|
rs1228502362 CA355449581 |
552 | L>V | No |
ClinGen gnomAD |
|
|
rs753047668 CA2734024 |
554 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355449536 rs1186111758 |
555 | S>N | No |
ClinGen gnomAD |
|
|
rs1353899025 CA355449527 |
556 | I>T | No |
ClinGen TOPMed |
|
|
rs1577314878 CA355449520 |
557 | I>T | No |
ClinGen Ensembl |
|
|
rs150362392 CA2734022 COSM4149703 |
558 | R>* | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2734021 rs199539697 |
558 | R>Q | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1310169872 CA355449514 |
559 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1310169872 CA355449513 |
559 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs377007160 CA88894651 |
561 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1577314806 CA355449477 |
564 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 569 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199889662 CA2734018 |
569 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355449433 rs1407053369 |
571 | G>S | No |
ClinGen TOPMed |
|
|
rs760613157 CA2734017 |
572 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303886490 CA355449427 |
572 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1303886490 CA355449425 |
572 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs767546174 CA2733997 |
575 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA355449378 rs137852682 |
577 | R>P | Epilepsy, idiopathic generalized, susceptibility to, 11 (eig11) [Ensembl] | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs759468578 CA2733996 |
577 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA355449376 rs1388956806 |
578 | V>M | No |
ClinGen gnomAD |
|
|
rs751359548 CA88894297 |
579 | R>C | No |
ClinGen TOPMed |
|
|
rs201130753 CA2733995 |
579 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1292599230 CA355449361 |
580 | V>G | No |
ClinGen gnomAD |
|
|
CA355449359 rs1560257865 |
581 | E>Q | No |
ClinGen Ensembl |
|
|
rs1413557470 CA355449348 |
582 | D>G | No |
ClinGen gnomAD |
|
|
rs1291969400 CA355449352 |
582 | D>N | No |
ClinGen TOPMed |
|
|
CA355449343 rs1451639804 |
583 | I>V | No |
ClinGen TOPMed |
|
|
CA355449329 rs1472205870 |
584 | M>I | No |
ClinGen gnomAD |
|
|
rs1214465498 CA355449336 |
584 | M>V | No |
ClinGen TOPMed |
|
|
rs143449618 CA2733992 |
586 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151225174 CA2733993 |
586 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355449305 rs1194022040 |
589 | P>T | No |
ClinGen TOPMed |
|
|
rs1475097304 CA355449295 |
590 | H>R | No |
ClinGen TOPMed |
|
|
CA355449299 rs1213341111 |
590 | H>Y | No |
ClinGen gnomAD |
|
|
CA355449291 rs1393518391 |
591 | V>M | No |
ClinGen TOPMed |
|
|
rs1270073363 CA355449284 |
592 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 594 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 594 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577313769 CA355449257 |
596 | T>P | No |
ClinGen Ensembl |
|
|
rs780348130 CA2733988 |
598 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780348130 CA2733987 |
598 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755448536 CA2733989 |
598 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355449237 CA355449236 rs1332071318 |
599 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2733986 rs141242566 |
599 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765248618 CA2733985 |
601 | R>C | No |
ClinGen ExAC |
|
|
CA2733984 rs757417707 |
601 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355449214 rs1285815830 |
603 | A>V | No |
ClinGen TOPMed |
|
|
CA2733983 rs753960111 |
604 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 605 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2733981 rs752668311 |
606 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355449188 rs1223206560 |
608 | K>E | No |
ClinGen TOPMed |
|
|
rs561080385 CA2733980 |
608 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA88894198 rs978035885 |
608 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1376881762 CA355449180 |
609 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs762516598 CA2733978 |
610 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA2733977 rs200403170 |
610 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2733976 rs200403170 |
610 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355449146 rs1560257516 |
615 | V>A | No |
ClinGen Ensembl |
|
|
rs572388675 CA355449138 |
616 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776097333 CA2733974 |
616 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA355449133 rs747479369 |
617 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2733972 rs747479369 |
617 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011021577 CA88894154 |
618 | P>S | No |
ClinGen TOPMed |
|
|
rs201976983 CA88894149 |
619 | E>* | No |
ClinGen 1000Genomes gnomAD |
|
|
rs749476807 CA2733948 |
619 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2733949 rs771297290 |
619 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs77030589 CA88893938 |
621 | M>R | No |
ClinGen Ensembl |
|
|
CA2733947 rs778005083 |
621 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2733945 rs752704117 |
626 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 627 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2733943 rs758247450 |
628 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1204319337 CA355449052 |
629 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2733942 COSM1201279 rs750254987 |
629 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 629 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA88893916 rs557410571 |
631 | Q>* | No |
ClinGen 1000Genomes |
|
|
CA355449033 rs1291657133 |
632 | V>A | No |
ClinGen gnomAD |
|
|
rs539170643 CA88893909 |
632 | V>M | No |
ClinGen 1000Genomes |
|
|
rs1325191795 CA355449013 |
635 | L>F | No |
ClinGen TOPMed |
|
|
rs1560257081 CA355449019 |
635 | L>M | No |
ClinGen Ensembl |
|
|
CA355449017 rs1333534790 |
635 | L>S | No |
ClinGen gnomAD |
|
|
CA2733940 rs756911647 |
636 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1188894719 CA355449006 |
637 | G>R | No |
ClinGen gnomAD |
|
|
CA2733939 rs753435184 |
638 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs763725903 CA2733938 |
639 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 642 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325778309 CA355448961 COSM1042047 |
644 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2733936 rs768115397 |
645 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115961753 CA355448954 |
646 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373554707 CA2733933 |
646 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs997463881 CA88893839 CA355448931 |
649 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs996924159 CA88893841 |
649 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1176973387 CA355448935 |
649 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2733932 rs749533814 |
650 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355448915 rs368874568 |
651 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1270693789 CA355448922 RCV000998172 |
651 | E>K | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1210121207 CA355448917 |
651 | E>V | No |
ClinGen gnomAD |
|
|
CA2733929 rs375856357 |
652 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355448913 rs375856357 |
652 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2733928 rs202067085 |
652 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568335048 CA355448909 |
653 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568335048 CA2733927 |
653 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355448900 rs1441886680 |
654 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 656 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355448885 rs149827415 |
657 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1560256779 CA355448883 |
657 | T>I | No |
ClinGen Ensembl |
|
|
rs149827415 CA2733926 |
657 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395922969 CA355448878 |
658 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2733925 rs778697594 |
658 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753629814 CA355448869 |
660 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA2733920 rs115380062 |
661 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2733919 rs115380062 RCV000433637 |
661 | S>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA355448857 rs1186980465 |
662 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 663 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150698157 CA2733916 |
664 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2733915 rs187000570 |
664 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1362688265 CA355448838 |
665 | G>C | No |
ClinGen TOPMed |
|
|
CA355448833 rs1189867948 |
665 | G>V | No |
ClinGen gnomAD |
|
|
rs770165017 CA2733913 |
666 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs770165017 CA2733914 |
666 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 667 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279033448 CA355448824 |
667 | P>L | No |
ClinGen gnomAD |
|
|
rs1313929254 CA355448828 |
667 | P>T | No |
ClinGen gnomAD |
|
|
CA355448821 rs1389724991 |
668 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2733911 rs9820367 |
668 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1389724991 CA355448822 |
668 | T>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 669 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1347414243 CA355448813 |
669 | P>L | No |
ClinGen gnomAD |
|
|
CA355448793 rs1413849979 |
672 | S>F | No |
ClinGen TOPMed |
|
|
rs1437289396 CA355448790 |
673 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs747103429 CA2733909 |
675 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2733886 rs769413891 |
677 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs375351863 CA2733884 |
679 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2733885 rs138530764 |
679 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2733883 rs754625567 |
680 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA355448035 rs1250980305 |
684 | F>L | No |
ClinGen gnomAD |
|
|
CA2733882 rs372387452 |
685 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1560256305 CA355448033 |
685 | P>S | No |
ClinGen Ensembl |
|
|
rs199641673 CA2733881 |
686 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2733879 rs750904094 |
687 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750904094 CA355448019 |
687 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111656822 CA2733877 |
688 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111656822 CA2733876 |
688 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000878343 CA2733878 rs368380934 |
688 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2733873 rs775575872 CA88892234 |
689 | G>R | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs1007964329 CA88892180 |
690 | E>D | No |
ClinGen Ensembl |
|
|
CA2733871 rs762887805 |
690 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355448013 rs762887805 |
690 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs765672654 | 690 | E>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577311647 CA355448008 |
691 | T>P | No |
ClinGen Ensembl |
|
|
CA2733869 rs773190681 |
692 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA88892173 rs903019480 |
692 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA355447984 rs1414165451 |
694 | P>L | No |
ClinGen gnomAD |
|
|
CA355447988 rs1041509741 |
694 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1041509741 CA88892172 |
694 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA88892170 rs893026581 |
697 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 697 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1418284456 CA355447968 |
697 | P>S | No |
ClinGen gnomAD |
|
|
rs1577311556 CA355447942 |
701 | R>M | No |
ClinGen Ensembl |
|
|
rs200416033 CA2733866 |
701 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2733865 rs781016279 |
702 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1456383408 CA355447934 |
703 | P>S | No |
ClinGen TOPMed |
|
|
rs746595564 CA2733863 |
705 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs779724748 CA2733862 |
706 | T>A | No |
ClinGen ExAC |
|
|
rs758040599 CA2733861 |
706 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 710 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2733858 rs371271357 |
710 | G>R | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1304356674 CA355447885 |
711 | E>K | No |
ClinGen gnomAD |
|
|
rs1388133845 CA355447877 |
712 | S>G | No |
ClinGen gnomAD |
|
|
RCV001070639 rs1560255987 |
713 | P>missing | No |
ClinVar dbSNP |
|
|
CA2733857 rs568606115 |
713 | P>L | No |
ClinGen 1000Genomes ExAC |
|
|
CA2733855 rs367620166 |
714 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 714 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764477277 CA2733856 |
714 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2733822 rs748730913 |
717 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2733821 rs778408210 |
718 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs138573287 CA2733819 VAR_058426 |
719 | S>L | found in a patient with childhood absence epilepsy; unknown pathological significance [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA2733820 rs748560932 |
719 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA88891694 rs1001733658 |
720 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1402148201 CA355447814 |
721 | G>R | No |
ClinGen TOPMed |
|
|
rs751748290 CA355447802 |
723 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751748290 CA2733817 |
723 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200869847 CA88891652 |
723 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758571954 CA2733815 |
724 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs762292619 CA2733814 |
725 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439179594 CA355447783 |
726 | S>R | No |
ClinGen gnomAD |
|
|
CA2733813 rs752574828 |
728 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408149159 CA355447766 |
729 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA355447760 rs1178366438 |
730 | G>S | No |
ClinGen gnomAD |
|
|
CA355447754 rs1355400326 |
731 | S>G | No |
ClinGen TOPMed |
|
|
rs1216936099 CA355447752 |
731 | S>N | No |
ClinGen TOPMed |
|
|
rs1577310557 CA355447748 |
731 | S>R | No |
ClinGen Ensembl |
|
|
rs767351643 CA2733811 |
732 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2733810 rs200095202 |
733 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770482761 CA2733808 |
733 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs200095202 CA2733809 |
733 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355447742 rs200095202 |
733 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2733807 rs558074883 |
734 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA88891536 rs146515374 |
734 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs558074883 CA2733806 |
734 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA88891551 rs558074883 |
734 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770308322 CA2733804 |
738 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355447708 rs1394390246 |
739 | E>G | No |
ClinGen gnomAD |
|
|
rs1365778987 CA355447674 |
740 | K>M | No |
ClinGen gnomAD |
|
| TCGA novel | 742 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs967058477 CA355447632 |
743 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs967058477 CA355447631 |
743 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA88891235 rs967058477 |
743 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2733782 rs747458694 |
744 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355447612 rs1274441636 |
745 | E>K | No |
ClinGen gnomAD |
|
|
rs1317486758 CA355447589 |
746 | K>N | No |
ClinGen gnomAD |
|
|
CA355447587 rs1309771056 |
747 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA88891199 rs989914153 |
751 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2733779 rs377416264 |
751 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1370370740 CA355447511 |
753 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs151278282 CA355447507 |
753 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151278282 CA2733778 |
753 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151278282 RCV000998170 CA88891173 |
753 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1160685900 CA355447472 |
757 | A>S | No |
ClinGen gnomAD |
|
|
CA2733748 rs373109365 |
760 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA355447377 rs373109365 |
760 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA88890965 rs971671262 |
761 | D>G | No |
ClinGen TOPMed |
|
|
CA355447347 rs1462006857 |
762 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA355447323 rs1237013650 |
764 | G>A | No |
ClinGen TOPMed |
|
|
rs760016814 CA2733746 |
764 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1186891303 CA355447312 |
765 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771299323 CA2733744 COSM446101 |
765 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1421840705 CA355447305 |
766 | M>V | No |
ClinGen gnomAD |
|
|
rs763225113 CA2733743 |
767 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs865893091 CA88890934 |
770 | E>* | No |
ClinGen Ensembl |
|
|
CA355447193 rs1235804429 |
771 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA355447127 rs1170200847 |
776 | E>D | No |
ClinGen TOPMed |
|
|
rs750563291 CA2733722 |
782 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA355447053 rs1384997446 |
782 | P>S | No |
ClinGen gnomAD |
|
|
rs772029805 CA2733718 |
784 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2733719 rs776725593 |
784 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776725593 CA2733720 |
784 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 785 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428244755 CA355447001 |
786 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs745740815 CA2733717 |
786 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA355446972 rs1425604526 |
788 | C>R | No |
ClinGen TOPMed |
|
|
CA2733716 rs778697476 |
788 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770774668 CA2733715 |
789 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 791 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355446911 rs1049613542 |
792 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA88890807 rs1049613542 |
792 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2733713 rs777327929 |
793 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 794 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200890510 CA355446891 |
794 | P>S | No |
ClinGen Ensembl |
|
|
CA2733712 rs553079976 |
798 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs147728691 CA2733709 |
800 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755544905 CA2733710 |
800 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486790756 CA355446800 |
801 | T>I | No |
ClinGen gnomAD |
|
|
rs758729918 CA2733707 |
802 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA88890775 rs898521866 |
804 | H>Y | No |
ClinGen Ensembl |
|
|
CA2733706 rs750778678 |
805 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577308148 CA355446755 |
805 | K>T | No |
ClinGen Ensembl |
|
|
CA2733683 rs377119457 |
809 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1305533532 CA355444882 |
814 | G>V | No |
ClinGen TOPMed |
|
|
rs1462158807 CA355444854 |
817 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs772885520 CA2733679 |
817 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2733680 rs762904870 |
817 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs768401089 CA2733675 |
822 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768401089 CA88886311 |
822 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746540452 CA2733674 |
824 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1282263717 CA355444720 |
827 | I>T | No |
ClinGen gnomAD |
|
|
rs372191163 CA2733671 |
830 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs372191163 CA2733672 |
830 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA355444663 rs1329553993 |
832 | L>V | No |
ClinGen gnomAD |
|
|
rs1172981812 CA355444645 |
833 | K>R | No |
ClinGen gnomAD |
|
|
rs1019377472 CA88886267 |
834 | E>V | No |
ClinGen Ensembl |
|
|
rs771316539 COSM1042045 CA2733649 |
836 | R>Q | Variant assessed as Somatic; 9.283e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1321914283 CA355444564 |
836 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA355444553 rs1577297523 |
837 | K>* | No |
ClinGen Ensembl |
|
|
CA2733648 rs749671403 |
837 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157707580 CA355444534 |
838 | A>V | No |
ClinGen gnomAD |
|
|
rs1272142410 CA355444521 |
839 | I>T | No |
ClinGen TOPMed |
|
|
rs1040457623 CA88886149 |
839 | I>V | No |
ClinGen TOPMed |
|
|
rs77317531 CA2733645 |
840 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA355444480 rs1477651863 |
842 | S>C | No |
ClinGen gnomAD |
|
|
CA355444455 rs1217623055 |
844 | T>R | No |
ClinGen gnomAD |
|
|
CA355444363 rs149460784 |
851 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2733638 rs149460784 |
851 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA88886073 rs868631476 |
851 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM1421366 CA355444355 rs1219041452 |
852 | P>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs200289365 CA2733635 |
853 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2733636 rs775282242 |
853 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA88886065 rs886403826 |
855 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA355444315 rs1391221010 |
856 | S>G | No |
ClinGen TOPMed |
|
|
CA2733632 rs771455325 |
858 | R>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 858 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA355444287 rs1173638421 |
858 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1047220422 CA88886064 |
860 | S>N | No |
ClinGen gnomAD |
|
|
rs1047220422 CA355444259 |
860 | S>T | No |
ClinGen gnomAD |
|
|
CA2733630 RCV000998169 rs778127158 |
867 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1188172322 CA355444172 |
867 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 868 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400069478 CA355444159 |
868 | E>G | No |
ClinGen TOPMed |
|
|
rs1191322819 CA355444149 |
869 | T>N | No |
ClinGen gnomAD |
|
|
CA355444119 rs1282755907 |
871 | E>Q | No |
ClinGen gnomAD |
|
|
CA355444091 rs1353108624 |
872 | V>E | No |
ClinGen TOPMed |
|
|
rs553275513 CA88886042 |
873 | H>R | No |
ClinGen 1000Genomes |
|
|
CA355444041 rs755134167 |
875 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2733627 rs755134167 |
875 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA2733626 rs755134167 |
875 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1265713591 CA355443995 |
876 | W>* | No |
ClinGen TOPMed |
|
|
rs779930206 CA2733624 |
877 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA355443956 rs1357459412 |
878 | P>R | No |
ClinGen TOPMed |
|
|
rs927520417 CA88886010 |
879 | H>Y | No |
ClinGen TOPMed |
|
|
CA2733622 rs753882107 |
881 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM479792 CA2733621 rs199616806 |
881 | R>H | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs201220597 CA355443878 |
882 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752409517 CA2733619 |
882 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2733620 rs201220597 |
882 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1693889 CA88885994 rs942403558 |
884 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA355443842 rs1256934254 |
884 | L>P | No |
ClinGen TOPMed |
|
|
CA355443851 rs942403558 |
884 | L>V | No |
ClinGen Ensembl |
|
|
rs759074708 CA2733617 |
886 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767217424 CA2733618 |
886 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2733615 rs765820782 |
887 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs773777498 CA2733613 |
890 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs986602212 CA88885959 |
891 | S>Y | No |
ClinGen Ensembl |
|
|
CA2733611 rs371779951 |
892 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1456677663 CA355443674 |
893 | S>G | No |
ClinGen gnomAD |
|
|
CA2733608 rs747140888 |
894 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2733610 rs186332301 |
894 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150751460 CA2733607 |
895 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA355443589 rs1337373545 |
896 | K>T | No |
ClinGen gnomAD |
|
|
CA2733605 rs758616159 |
897 | C>R | No |
ClinGen ExAC |
|
| TCGA novel | 899 | Q>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334861143 CA355443526 |
899 | Q>R | No |
ClinGen TOPMed |
5 associated diseases with P51788
[MIM: 607628]: Epilepsy, idiopathic generalized 11 (EIG11)
A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. {ECO:0000269|PubMed:19191339}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 607628]: Juvenile absence epilepsy 2 (JAE2)
A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. {ECO:0000269|PubMed:19710712}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
[MIM: 607628]: Juvenile myoclonic epilepsy 8 (EJM8)
A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. {ECO:0000269|PubMed:19191339}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 615651]: Leukoencephalopathy with ataxia (LKPAT)
An autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles, suggesting myelin microvacuolation. Clinical features include ataxia and unstable gait. More variable abnormalities may include visual field defects, headaches, and learning disabilities. {ECO:0000269|PubMed:23707145}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 605635]: Hyperaldosteronism, familial, 2 (HALD2)
An autosomal dominant disorder characterized by elevated plasma aldosterone level and hypertension of varying severity even within members of the same family. Hypokalemia is observed in some patients. In HALD2, hypertension does not improve with glucocorticoid treatment. {ECO:0000269|PubMed:29403011, ECO:0000269|PubMed:29403012}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. {ECO:0000269|PubMed:19191339}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. {ECO:0000269|PubMed:19710712}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
- A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. {ECO:0000269|PubMed:19191339}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- An autosomal recessive neurologic disorder with a characteristic pattern of white matter abnormalities on brain MRI. Affected individuals have prominent signal abnormalities and decreased apparent diffusion coefficient values in the posterior limbs of the internal capsules, middle cerebral peduncles, pyramidal tracts in the pons, and middle cerebellar peduncles, suggesting myelin microvacuolation. Clinical features include ataxia and unstable gait. More variable abnormalities may include visual field defects, headaches, and learning disabilities. {ECO:0000269|PubMed:23707145}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant disorder characterized by elevated plasma aldosterone level and hypertension of varying severity even within members of the same family. Hypokalemia is observed in some patients. In HALD2, hypertension does not improve with glucocorticoid treatment. {ECO:0000269|PubMed:29403011, ECO:0000269|PubMed:29403012}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P51788
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P51788 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chloride channel complex | An ion channel complex through which chloride ions pass. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| voltage-gated chloride channel activity | Enables the transmembrane transfer of a chloride ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| acinar cell differentiation | The epithelial cell differentiation process in which a relatively unspecialized cell acquires specialized features of an acinar cell, a secretory cell that is grouped together with other cells of the same type to form grape-shaped clusters known as acini. |
| cell differentiation involved in salivary gland development | The process in which a relatively unspecialized cell acquires specialized structural and/or functional features that characterize the cells of the salivary gland. |
| chloride transport | The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| lung development | The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax. |
| regulation of aldosterone biosynthetic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of aldosterone. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
| retina development in camera-type eye | The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P35523 | CLCN1 | Chloride channel protein 1 | Homo sapiens (Human) | PR |
| Q64347 | Clcn1 | Chloride channel protein 1 | Mus musculus (Mouse) | PR |
| Q9R0A1 | Clcn2 | Chloride channel protein 2 | Mus musculus (Mouse) | PR |
| P35524 | Clcn1 | Chloride channel protein 1 | Rattus norvegicus (Rat) | PR |
| P35525 | Clcn2 | Chloride channel protein 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAAAEEGM | EPRALQYEQT | LMYGRYTQDL | GAFAKEEAAR | IRLGGPEPWK | GPPSSRAAPE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLEYGRSRCA | RCRVCSVRCH | KFLVSRVGED | WIFLVLLGLL | MALVSWVMDY | AIAACLQAQQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WMSRGLNTSI | LLQYLAWVTY | PVVLITFSAG | FTQILAPQAV | GSGIPEMKTI | LRGVVLKEYL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TLKTFIAKVI | GLTCALGSGM | PLGKEGPFVH | IASMCAALLS | KFLSLFGGIY | ENESRNTEML |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AAACAVGVGC | CFAAPIGGVL | FSIEVTSTFF | AVRNYWRGFF | AATFSAFIFR | VLAVWNRDEE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TITALFKTRF | RLDFPFDLQE | LPAFAVIGIA | SGFGGALFVY | LNRKIVQVMR | KQKTINRFLM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RKRLLFPALV | TLLISTLTFP | PGFGQFMAGQ | LSQKETLVTL | FDNRTWVRQG | LVEELEPPST |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SQAWNPPRAN | VFLTLVIFIL | MKFWMSALAT | TIPVPCGAFM | PVFVIGAAFG | RLVGESMAAW |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FPDGIHTDSS | TYRIVPGGYA | VVGAAALAGA | VTHTVSTAVI | VFELTGQIAH | ILPVMIAVIL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ANAVAQSLQP | SLYDSIIRIK | KLPYLPELGW | GRHQQYRVRV | EDIMVRDVPH | VALSCTFRDL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RLALHRTKGR | MLALVESPES | MILLGSIERS | QVVALLGAQL | SPARRRQHMQ | ERRATQTSPL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SDQEGPPTPE | ASVCFQVNTE | DSAFPAARGE | THKPLKPALK | RGPSVTRNLG | ESPTGSAESA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GIALRSLFCG | SPPPEAASEK | LESCEKRKLK | RVRISLASDA | DLEGEMSPEE | ILEWEEQQLD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EPVNFSDCKI | DPAPFQLVER | TSLHKTHTIF | SLLGVDHAYV | TSIGRLIGIV | TLKELRKAIE |
| 850 | 860 | 870 | 880 | 890 | |
| GSVTAQGVKV | RPPLASFRDS | ATSSSDTETT | EVHALWGPHS | RHGLPREGSP | SDSDDKCQ |