Q9UQD0
PR
Gene name |
SCN8A (MED) |
Protein name |
Sodium channel protein type 8 subunit alpha |
Names |
Sodium channel protein type VIII subunit alpha, Voltage-gated sodium channel subunit alpha Nav1.6 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6334 |
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
4 structures for Q9UQD0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8FHD | EM | 310 A | A | 1-1980 | PDB |
| 8GZ1 | EM | 340 A | B | 1-1980 | PDB |
| 8GZ2 | EM | 330 A | B | 1-1980 | PDB |
| AF-Q9UQD0-F1 | Predicted | AlphaFoldDB |
1445 variants for Q9UQD0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002316533 rs758891499 RCV000559156 |
3 | A>V | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV002527570 rs751889285 RCV000520832 |
4 | R>Q | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001320296 rs1940949996 |
4 | R>W | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1940950511 RCV001238746 |
11 | P>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565878368 RCV002318061 |
12 | D>G | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1940950901 RCV001054639 |
16 | P>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795327 rs1592363287 |
17 | F>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1940951099 RCV001351855 |
19 | P>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1170755479 RCV000796706 |
24 | N>D | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002370026 RCV003224453 RCV000768310 rs769269501 |
24 | N>S | Cognitive impairment with or without cerebellar ataxia Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802422 RCV001091241 rs375419028 |
32 | S>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1940953152 RCV001326362 |
39 | K>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000425482 rs1057524711 RCV002522709 |
53 | P>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1940954610 RCV001349710 |
53 | P>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755721954 RCV001089739 |
54 | K>Q | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_076598 | 58 | D>N | DEE13; unknown pathological significance; no effect on channel activity [UniProt] | Yes | UniProt |
|
rs1940955829 RCV001198519 |
66 | P>H | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000192357 RCV001857702 rs797045945 |
68 | I>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040218 rs888638528 |
71 | D>E | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000792718 rs1592363476 |
73 | P>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775593096 RCV001879953 RCV001256087 |
79 | V>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763078635 RCV001070120 |
90 | T>M | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565885985 RCV002535706 RCV000782283 |
99 | R>S | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs370578497 RCV001205307 |
99 | R>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941382009 RCV001350086 |
103 | L>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001372284 rs527246057 |
114 | I>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941383326 RCV001317671 |
121 | I>K | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001266491 rs1941420576 |
137 | I>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565886685 RCV000690219 |
139 | M>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941420783 RCV001211588 |
141 | T>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000763859 RCV000189297 RCV001299725 rs796053232 |
153 | N>H | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781190497 RCV001349690 |
159 | K>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000178933 rs775272996 RCV001078929 |
164 | T>M | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001314552 rs763847342 |
170 | T>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941432036 RCV001294590 |
174 | L>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1941432230 RCV001330493 |
183 | C>S | Seizures, benign familial infantile, 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227025 rs1345271275 |
191 | R>Q | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796053233 RCV001220316 RCV000189298 |
205 | A>E | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001323177 RCV000189304 rs767123396 |
207 | I>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_078752 rs879255693 RCV000239750 |
210 | F>L | Developmental and epileptic encephalopathy, 13 DEE13 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV000699586 RCV000413127 rs1057518487 |
211 | V>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001268591 RCV000239765 rs879255694 |
214 | G>D | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000239741 VAR_076599 rs879255695 RCV001854934 |
215 | N>R | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts DEE13; unknown pathological significance; requires 2 nucleotide substitutions [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
VAR_071674 RCV000239757 rs879255696 |
216 | V>D | Developmental and epileptic encephalopathy, 13 DEE13 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs879255696 RCV000414881 |
216 | V>G | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_072182 rs672601319 RCV000149436 |
223 | R>G | Developmental and epileptic encephalopathy, 13 DEE13; loss of function mutation; reduces channel activity [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs1592380672 RCV000823620 |
223 | R>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592380687 RCV000850509 |
226 | R>G | Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_079722 | 232 | S>P | DEE13 [UniProt] | Yes | UniProt |
|
rs1592380699 RCV000850511 |
233 | V>I | Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592380699 RCV003150822 RCV001090183 |
233 | V>L | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636310 rs1555218603 CA385226349 |
236 | G>D | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1592387849 RCV000855503 RCV001775152 CA385226373 |
240 | I>T | Fetal akinesia deformation sequence 1 Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064793923 RCV000482488 CA16619557 RCV001856835 RCV001330496 |
240 | I>V | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16042903 rs1057518293 RCV000693932 RCV000414697 |
254 | V>M | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1941650264 RCV001051151 |
255 | M>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
CA385226491 RCV000677400 rs1555218630 |
258 | T>I | SCN8A-related epileptic disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001054624 RCV000239739 CA10586288 rs879255697 VAR_076600 |
260 | F>S | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts DEE13; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001215170 rs1941650760 |
266 | A>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853250 RCV001232816 CA10581564 RCV000225160 |
267 | L>S | Early infantile epileptic encephalopathy with suppression bursts Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555218657 CA385226619 RCV000546734 |
278 | R>* | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001349205 rs775342033 |
283 | V>M | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034235 rs1941653003 RCV001759720 |
296 | G>D | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368726668 CA6571164 RCV001326087 |
301 | D>G | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA16044326 rs1057519557 RCV000416993 RCV001726156 VAR_078202 |
307 | N>S | DEE13; unknown pathological significance [UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
RCV001345080 CA385226927 rs1380654654 |
319 | L>M | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000815285 rs1592389210 CA385226996 |
329 | D>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001221256 rs1941714033 |
360 | F>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592390497 RCV000808339 CA385227245 |
362 | A>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000796166 RCV002249508 rs1592390511 CA385227268 |
365 | R>H | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA385227284 RCV000528368 rs1555219147 |
367 | M>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001347627 rs1941714399 |
367 | M>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001047065 rs1941714576 |
369 | Q>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002275204 RCV001063742 rs1941767862 |
398 | G>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879255698 CA10586289 VAR_076601 RCV000239755 |
407 | L>F | Developmental and epileptic encephalopathy, 13 DEE13; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_078753 | 408 | A>T | DEE13; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA385227986 CA10586290 RCV000239725 RCV000988845 rs879255699 VAR_076602 |
410 | V>L | Developmental and epileptic encephalopathy, 13 DEE13; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1941768692 RCV001257734 |
412 | M>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000173856 RCV002516601 CA239308 rs794727000 |
414 | Y>F | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001232511 rs1555219509 |
415 | E>K | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583047 RCV000228705 rs878854973 RCV000622388 |
417 | Q>P | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001352251 rs1941769135 |
418 | N>D | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1592392873 RCV000851502 CA385228163 |
420 | A>P | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001467078 CA16613811 rs1060501012 |
447 | Q>* | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1592393570 CA385228645 RCV000795178 |
456 | G>E | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA236264002 RCV001342531 rs557559740 RCV002493756 RCV003136004 |
466 | E>K | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000692749 CA6571256 rs748156622 |
471 | G>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000153910 rs201018451 RCV002390338 CA295643 RCV000636294 RCV001719952 |
475 | R>Q | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1060501008 RCV000461484 CA16614141 |
476 | S>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_076603 | 479 | E>V | DEE13; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001586042 RCV001203052 CA385228800 rs1159903256 |
480 | I>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000434079 rs769520392 RCV000636400 CA6571262 |
482 | K>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555219752 RCV001204031 |
490 | E>Q | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002318644 RCV001064759 CA6571267 rs576362165 |
492 | R>C | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6571268 RCV002538199 rs750170064 RCV000824357 |
492 | R>H | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001244872 rs1941788258 |
498 | R>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001315765 rs201487381 CA318250 |
502 | E>K | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1022856027 RCV002537986 RCV001289207 |
503 | L>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6571271 rs758393038 RCV001034276 |
506 | G>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6571273 RCV000802375 rs371383623 RCV002388489 |
507 | E>A | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001591417 CA6571272 RCV000636433 rs777851383 RCV001526836 |
507 | E>Q | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA385229033 RCV000994919 RCV001858800 rs1592393860 |
514 | K>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10604876 rs886042925 RCV000357977 RCV001244330 |
524 | M>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002315385 CA6571281 rs773875275 |
526 | R>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3416923 RCV000584839 RCV000239743 RCV001519462 rs761336234 CA6571282 COSM3416924 |
530 | R>W | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001471060 CA6571285 rs760459642 |
534 | N>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000413380 RCV001238296 CA16042886 rs1057518528 RCV002261084 |
538 | R>K | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001057599 CA6571287 rs753587420 |
541 | S>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA236266889 rs957905474 RCV000816256 |
552 | G>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001034461 CA6571304 rs773118948 |
556 | L>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA385229378 rs1592405696 RCV000796345 |
564 | S>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267603508 RCV001350226 RCV000189262 CA318252 |
569 | R>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000489923 rs1085307867 CA385229430 RCV001221415 |
572 | G>E | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001060725 rs370074236 CA6571315 |
573 | R>W | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs373820887 CA6571317 RCV000817525 |
577 | P>Q | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1942065333 RCV001297695 |
593 | E>missing | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6571329 RCV000994920 RCV001262687 rs760717246 RCV000555077 |
593 | E>D | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001350188 rs879267224 CA236266935 |
596 | G>D | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000797517 rs755358223 RCV001644826 CA6571332 |
597 | R>H | Early infantile epileptic encephalopathy with suppression bursts Spastic ataxia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1064796357 CA16619559 RCV000481710 RCV002526659 |
598 | R>W | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1374989397 CA385229621 RCV001041335 |
601 | L>F | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000869335 CA385229641 rs1285097368 |
604 | P>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1359860813 RCV000636273 COSM86447 CA385229653 |
606 | R>Q | Early infantile epileptic encephalopathy with suppression bursts ovary Variant assessed as Somatic; 0.0 impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001083161 RCV002317003 CA239893 rs367949317 RCV000724469 |
607 | A>T | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs371644624 RCV001071524 RCV001815021 CA236266945 |
608 | R>H | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV001238500 CA236266952 rs866054004 |
611 | R>Q | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs749121003 CA6571342 RCV002316847 |
613 | S>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs765763546 CA6571351 RCV001065613 |
625 | R>H | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001857161 CA385229785 RCV000500414 rs1198276041 RCV002259344 |
627 | S>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA6571354 RCV001232232 rs763701191 |
628 | R>P | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001034241 rs751275472 CA6571355 |
633 | L>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001411280 rs368345284 CA6571360 |
639 | R>C | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
CA385229898 rs1565900032 RCV000698087 |
646 | N>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1048609401 RCV000695558 CA385229933 |
652 | I>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000696248 RCV000523519 rs905574009 CA236267006 |
654 | G>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001041337 rs768554772 |
655 | P>missing | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1352024223 RCV000636321 RCV001265904 RCV002448976 |
656 | G>missing | Early infantile epileptic encephalopathy with suppression bursts SCN8A-related disorders Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003141937 rs1429377869 RCV001034457 |
657 | S>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1429377869 RCV001345501 CA385229961 |
657 | S>P | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs76222829 RCV000189264 RCV003137766 CA318254 VAR_078612 |
662 | R>C | Cognitive impairment with or without cerebellar ataxia DEE13; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1942502992 RCV001267136 |
667 | A>D | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs556325115 RCV001320335 CA6571403 RCV000585160 |
668 | T>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000239754 RCV001218534 CA6571404 rs758253791 |
668 | T>I | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002316731 rs1565908565 |
677 | G>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001045037 RCV002416364 rs769132740 CA6571411 |
681 | L>H | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001237770 rs1208300274 CA384878604 |
686 | D>E | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA6571413 RCV001516212 rs373073046 RCV000468874 |
686 | D>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000706445 rs373073046 CA384878586 |
686 | D>Y | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001213284 CA236309296 RCV003142148 rs1037521613 |
692 | G>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000435588 RCV000174575 rs187153231 RCV002498633 RCV001083086 CA302743 RCV002312598 |
700 | I>L | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs187153231 RCV001065259 |
700 | I>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001039658 CA384879692 RCV001091245 RCV003224518 rs1218269439 |
713 | E>D | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA384879727 RCV001346485 RCV002431976 rs1355556670 |
718 | K>R | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001034217 CA6571449 rs373603736 |
720 | P>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555224370 RCV001216764 |
722 | C>W | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
CA384879771 RCV000823470 rs1592142754 |
724 | Y>C | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1942592830 RCV001309560 |
729 | T>P | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs923938885 RCV001302219 CA384879810 |
730 | F>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1942593819 RCV002554472 RCV001065006 |
745 | I>T | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA384879948 rs1331549282 RCV001318055 |
749 | I>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001089741 rs1942594128 |
750 | V>I | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340827 rs544063018 CA6571454 |
761 | I>V | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000509479 RCV000174766 RCV001044209 rs794727128 CA240328 |
763 | I>V | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; impact. SCN8A-related disorder [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001852528 RCV000850597 RCV002444773 RCV000190513 rs797045013 CA204472 VAR_072183 |
767 | T>I | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases DEE13; gain-of-function mutation; increases channel activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001034832 CA384880213 rs1178470597 |
787 | V>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001339754 rs1942777853 |
805 | I>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000312849 rs886049584 CA10633090 |
811 | Y>C | Early Infantile Epileptic Encephalopathy, Autosomal Dominant [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1565915356 RCV002318849 |
821 | D>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799054 rs1592148206 |
829 | L>missing | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565915374 RCV002315468 CA384884420 |
831 | E>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555225505 RCV001291729 |
831 | E>K | Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001262688 rs1942779292 |
840 | L>F | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583048 rs878854974 RCV000232244 |
840 | L>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA384884760 rs1476532344 RCV001289471 |
844 | R>Q | Variant assessed as Somatic; 0.0 impact. Cognitive impairment with or without cerebellar ataxia [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs796053210 RCV002517014 RCV003223395 CA318256 RCV000189266 |
845 | S>F | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs879255700 RCV001200083 CA10586291 RCV000239728 VAR_071675 |
846 | F>S | Developmental and epileptic encephalopathy, 13 DEE13 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001379975 RCV000265782 rs886043686 CA10605825 |
848 | L>W | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1592149711 CA384886415 RCV000995865 |
849 | L>H | Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_079723 | 850 | R>E | DEE13; requires 2 nucleotide substitutions [UniProt] | Yes | UniProt |
|
CA163107 rs587780586 VAR_076604 |
850 | R>Q | DEE13; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
RCV001220301 rs1942827739 |
854 | L>M | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555225784 RCV002529798 RCV000626916 CA384886683 |
855 | A>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA384887050 RCV000502482 RCV001268919 rs1555225794 |
868 | I>T | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001214689 rs1942828379 |
870 | N>H | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1942828530 TCGA novel RCV001195919 |
873 | G>C | Developmental and epileptic encephalopathy, 13 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1942828530 RCV001301920 |
873 | G>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057524820 RCV001315470 RCV001253698 RCV000425333 CA16607341 |
874 | A>S | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA384887219 rs1057524820 RCV002248807 RCV000585876 |
874 | A>T | Developmental and epileptic encephalopathy, 13 Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs879255701 CA10586292 RCV000239761 |
875 | L>Q | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16613814 rs1060501010 RCV001496204 |
876 | G>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001252615 rs1942828881 |
878 | L>P | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA384887434 rs1592149771 RCV000988846 |
881 | V>L | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001200084 RCV002298900 rs1942829127 |
885 | I>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879255702 RCV001089738 |
890 | A>P | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10586293 VAR_076605 RCV000239733 rs879255702 |
890 | A>T | Developmental and epileptic encephalopathy, 13 DEE13 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1592149793 VAR_079724 RCV000814384 CA384887642 |
891 | V>M | Early infantile epileptic encephalopathy with suppression bursts DEE13 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000201939 rs863225295 CA279639 |
892 | V>G | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1942829484 RCV001304708 |
892 | V>M | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1942829767 RCV002468628 RCV001262689 |
901 | Y>C | Developmental and epileptic encephalopathy, 13 Seizures, benign familial infantile, 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA236317164 RCV001352069 rs1038198905 |
907 | K>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs774522197 RCV001229803 |
933 | L>F | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555225833 CA384889061 RCV000624836 |
936 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555225835 RCV000851503 CA384889155 |
937 | W>C | Cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001315213 rs1942831510 |
945 | M>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000239747 VAR_076606 CA10586294 rs879255703 |
960 | V>D | Developmental and epileptic encephalopathy, 13 DEE13; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001233152 rs1942832105 |
961 | M>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000766191 rs1057521662 CA16607342 RCV000439821 |
964 | G>R | COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000805968 rs1592149906 CA384890258 |
967 | V>G | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1942877839 RCV001267571 |
974 | A>G | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000417010 rs1057519540 CA16044327 VAR_078203 |
978 | S>G | DEE13 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA384891782 rs1555226081 RCV000623369 |
979 | S>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1565917697 RCV002255511 RCV002255162 RCV000696324 CA384891835 |
982 | A>V | Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial infantile, 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_076607 CA10575719 RCV001003602 rs876657399 RCV000172909 |
984 | N>K | Developmental and epileptic encephalopathy, 13 Global developmental delay DEE13; gain-of-function mutation; increased channel activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001253721 rs1942878547 |
989 | D>Y | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001323769 CA236318491 rs80261247 |
991 | D>N | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1565917769 RCV001542340 CA384892040 RCV000698952 |
995 | N>D | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003147611 RCV003147608 rs1942879102 RCV003147610 RCV003147609 RCV001314955 |
995 | N>K | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts Myoclonus, familial, 2 Seizures, benign familial infantile, 5 Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA384892097 COSM940562 RCV001266596 COSM940563 rs1565917779 |
1003 | R>C | endometrium Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs752402332 CA6571535 RCV000476305 COSM1476648 COSM1476647 |
1003 | R>H | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA236318505 RCV001338558 rs1057317154 |
1006 | K>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001726486 rs1423546979 RCV001318658 CA384892177 |
1015 | V>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs751112057 RCV001208235 |
1017 | A>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001823593 CA10641732 rs528718802 |
1020 | Q>H | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs781237471 CA384892238 RCV000795246 |
1021 | A>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000992912 rs117217073 RCV000118280 RCV002312498 RCV001089736 RCV000226089 CA289034 |
1026 | R>C | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001317542 rs780010793 CA6571541 |
1026 | R>H | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001343540 rs1942881418 |
1028 | A>G | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057524300 RCV000442719 RCV001344908 CA16606571 |
1031 | V>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs199680789 RCV001230475 CA6571548 |
1043 | N>K | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1942882733 RCV001253632 |
1044 | C>R | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6571551 rs762469719 RCV001300588 |
1047 | N>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000514951 CA318321 rs202006479 RCV000703972 RCV002321764 RCV001838987 |
1050 | G>S | Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial infantile, 5 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA236318583 RCV002245671 rs376547086 RCV000794029 |
1051 | A>V | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1942883632 RCV001253024 |
1052 | D>N | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000820334 rs587780453 RCV000118281 CA231493 |
1053 | I>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16613746 RCV000476902 rs1060501009 |
1054 | H>P | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001584221 RCV001305760 CA6571555 rs756127631 RCV000763860 RCV000503487 |
1055 | R>Q | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6571554 RCV000636346 rs370141803 RCV002252185 |
1055 | R>W | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000975519 rs1592151546 CA384892892 |
1062 | N>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1592151555 RCV000975526 CA384892977 |
1068 | S>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064796374 RCV002526660 CA16619560 RCV000484524 |
1069 | G>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702686 rs746302474 CA6571562 |
1077 | Y>C | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6571565 RCV001300994 rs763424705 |
1087 | I>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000994922 RCV001868159 RCV000625852 CA6571568 rs761386688 |
1089 | N>K | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs774119406 RCV001034323 CA6571567 |
1089 | N>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA6571569 RCV001243072 rs767071719 |
1090 | P>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA384893308 rs1565918102 RCV001045078 |
1090 | P>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000636524 RCV002225701 CA6571570 rs558738676 |
1091 | N>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6571571 RCV001064682 rs558738676 |
1091 | N>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1942886229 RCV001069252 |
1092 | L>M | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
CA384893484 RCV001028097 rs1592151654 |
1099 | A>T | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1942886955 RCV001034202 |
1107 | N>H | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1942887434 RCV002322264 RCV001333729 |
1112 | D>E | Developmental and epileptic encephalopathy, 13 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694282 rs372096102 RCV000189270 CA318262 |
1119 | P>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000636268 CA384894017 rs1555226186 RCV002227484 |
1123 | K>Q | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001230028 CA236319059 RCV003151839 rs977168749 |
1126 | L>Q | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA384895029 rs1444975127 RCV001520851 |
1128 | D>E | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA384895371 RCV001281508 rs1324401898 RCV000687774 |
1145 | E>K | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA6571603 RCV001034065 rs536452913 |
1148 | V>M | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000623788 CA384895478 rs1555226280 |
1150 | Q>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001045390 rs1942899278 |
1160 | C>Y | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302835 rs376406345 CA6571626 |
1166 | V>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6571628 rs774163610 RCV001317718 |
1170 | K>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA6571632 RCV001232003 RCV002563770 rs560509683 |
1177 | E>G | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6571631 rs148742419 RCV000557137 |
1177 | E>K | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002282211 RCV002456092 rs1555226375 CA384896499 RCV000536288 |
1188 | R>Q | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001211933 rs1942911383 RCV003128380 RCV002468624 |
1195 | V>M | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 Seizures, benign familial infantile, 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001056608 rs780745536 CA6571639 |
1198 | N>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001034264 CA318266 rs769243993 RCV000725891 RCV002453700 |
1214 | A>T | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000766192 CA384898686 RCV001240826 rs1555226823 |
1218 | E>K | Early infantile epileptic encephalopathy with suppression bursts COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA236321713 rs1020998191 RCV001034328 |
1229 | R>H | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1942973895 RCV001034028 RCV001330490 |
1235 | A>T | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001030824 RCV000417447 rs377197765 CA6571667 |
1237 | K>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001340058 rs1942974112 |
1238 | V>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
CA318270 rs750829844 RCV000705413 RCV000189274 |
1257 | V>I | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001333730 rs1942975434 |
1265 | C>R | Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078613 | 1279 | L>V | DEE13 [UniProt] | Yes | UniProt |
|
rs766666711 RCV001211547 CA6571717 |
1280 | I>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1565923638 CA384901545 RCV000690728 |
1307 | L>F | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002509637 rs201255617 RCV001227998 CA236325809 |
1309 | R>Q | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes NCI-TCGA dbSNP |
|
rs1085307546 CA384901735 RCV000489736 RCV001865509 |
1313 | M>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000796212 rs1592162415 CA384904277 RCV001255042 |
1315 | V>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555228303 RCV001865573 RCV000498624 CA384904256 |
1315 | V>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000855669 CA384904367 RCV001268825 rs1592162430 |
1318 | N>S | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA318272 rs796053214 RCV000189275 RCV000700845 |
1319 | A>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078754 | 1323 | A>S | DEE13; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001253356 CA242212 RCV001095653 RCV000176314 RCV002321698 RCV001219444 rs794727361 |
1323 | A>T | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10586295 RCV000239751 RCV002519872 VAR_071676 rs879255704 RCV000493549 |
1327 | I>V | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 DEE13 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000054506 VAR_076608 CA144634 rs397514738 |
1331 | L>V | Developmental and epileptic encephalopathy, 13 DEE13; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1938093232 RCV001270732 |
1336 | I>T | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel CA384905128 RCV000796655 rs1592162506 |
1350 | A>V | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
CA384905308 RCV000817578 rs1592162522 |
1355 | Y>C | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002958411 CA318274 rs796053215 |
1360 | T>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA6571751 rs752899010 RCV002640437 |
1378 | K>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555228380 RCV001089757 RCV000516224 |
1383 | N>missing | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770135840 CA6571758 RCV001229354 |
1392 | V>M | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002318823 rs1565925940 |
1397 | D>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001330491 rs1555228665 RCV000626917 RCV000701379 CA384907172 |
1412 | F>S | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts Global developmental delay [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555228668 RCV000685441 CA384907223 |
1413 | K>E | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1938177234 RCV001267124 |
1435 | E>A | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1938177744 RCV001216469 |
1442 | I>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1938178108 RCV001039516 |
1448 | I>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000517164 CA278916 RCV000172910 RCV002516572 VAR_076609 RCV001380064 rs863223345 |
1451 | G>S | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 Inborn genetic diseases DEE13; loss of channel activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002252328 RCV001202692 rs1938178701 |
1465 | D>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135401806 RCV000496197 CA384908563 |
1465 | D>V | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_071677 CA170758 rs587777722 RCV000144155 |
1466 | N>K | Developmental and epileptic encephalopathy, 13 DEE13 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs587777723 RCV000685228 CA384908570 |
1466 | N>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587777723 VAR_071678 RCV000144156 CA170759 |
1466 | N>T | Developmental and epileptic encephalopathy, 13 DEE13 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001209845 rs1938179062 |
1467 | F>C | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000415327 rs1057518667 CA16043682 |
1468 | N>S | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000578414 CA384908600 rs1555228771 |
1470 | Q>P | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001330492 rs1555228771 |
1470 | Q>R | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001267393 rs1938179478 |
1471 | K>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057521767 RCV002298587 RCV000438505 CA16606653 |
1471 | K>Q | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000500598 RCV000627041 RCV000189277 RCV000462091 VAR_078204 rs796053216 RCV000416962 CA318276 |
1475 | G>R | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts Epilepsy Variant assessed as Somatic; impact. DEE13 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs1064793263 RCV001856819 CA16619563 RCV000988848 RCV000480970 |
1476 | G>S | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001224613 rs796053217 |
1479 | I>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001089542 RCV002555932 rs1938214529 |
1479 | I>T | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA318278 rs796053217 VAR_076610 RCV000239737 |
1479 | I>V | Developmental and epileptic encephalopathy, 13 DEE13; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001089740 rs1938214882 |
1481 | M>IA | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636327 rs886041670 CA10603278 RCV001254990 RCV000338932 |
1481 | M>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001293365 VAR_076927 RCV002226427 CA10586233 RCV000239671 rs879255652 RCV001556220 RCV002518547 |
1483 | E>K | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts Epilepsy Seizures, benign familial infantile, 5 BFIS5 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000796294 RCV003141782 CA384909121 rs1592164705 |
1491 | A>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA318284 RCV000189281 RCV002281571 rs796053220 |
1491 | A>V | Seizures, benign familial infantile, 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000467286 rs1060501011 CA16614151 |
1493 | K>E | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555228931 RCV001759488 RCV000791710 CA384909164 RCV000988849 |
1498 | K>E | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057520149 CA384909186 RCV000851498 |
1501 | Q>* | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs760096460 RCV001034203 CA6571827 |
1506 | R>H | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA6571838 rs184568764 RCV000549709 |
1515 | V>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001513915 rs771231471 COSM940583 COSM940582 RCV001704663 CA6571842 |
1530 | M>I | Early infantile epileptic encephalopathy with suppression bursts endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000818920 CA384878754 rs1592167109 |
1531 | L>F | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA384878776 RCV000988850 rs1555229496 |
1532 | I>F | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1938352290 RCV001210175 RCV001227874 |
1536 | M>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211064 rs1938352194 |
1536 | M>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001046032 rs1938352194 |
1536 | M>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759753811 RCV002334226 RCV001493054 RCV000660650 CA6571844 |
1545 | T>I | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001349506 CA6571848 RCV000493100 rs764328953 |
1560 | V>M | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA236318870 rs190254722 RCV001319166 |
1563 | I>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV001560203 RCV000689146 CA6571849 rs751979396 |
1563 | I>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1938354052 RCV001312470 |
1566 | T>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
CA384879177 RCV000533852 rs1207860967 |
1568 | E>D | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA318323 RCV000727444 rs780940263 RCV001210171 |
1573 | M>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA236318872 rs182326351 RCV001228623 |
1575 | A>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs953377308 RCV001321161 CA236318877 |
1576 | L>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA384879259 rs1326992524 RCV001315690 |
1580 | Y>C | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555229539 CA384879266 RCV000636528 |
1581 | F>Y | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000118284 RCV000239732 rs201458257 RCV001086391 RCV002313921 CA231495 |
1583 | I>T | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000623677 rs1555229543 CA384879292 |
1585 | W>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1565929209 RCV001869046 RCV000761831 CA384879335 |
1591 | V>M | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587780454 CA384879341 RCV000636403 |
1592 | V>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA155095 RCV000118285 rs587780454 VAR_076611 |
1592 | V>L | Developmental and epileptic encephalopathy, 13 DEE13; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs752829853 RCV000189303 CA318325 RCV002514061 |
1594 | I>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_076612 rs879255705 RCV000239762 RCV001528565 CA10586296 RCV001854935 |
1596 | S>C | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 DEE13; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_079725 | 1598 | V>A | DEE13 [UniProt] | Yes | UniProt |
|
RCV001565909 CA384880261 RCV000695035 rs1565933795 |
1600 | M>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA318286 RCV000189282 RCV001857653 rs796053221 |
1600 | M>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_076613 | 1605 | I>R | DEE13; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs879255706 RCV000239735 RCV002518549 CA10586304 |
1605 | I>V | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000540178 rs1555230909 CA384880355 RCV000513422 |
1614 | T>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001253419 RCV001879868 rs587777721 |
1617 | R>L | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636307 RCV001266283 CA170757 RCV000144154 RCV000678845 VAR_071679 rs587777721 RCV000522954 |
1617 | R>Q | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 Inborn genetic diseases developmental delay with seizures DEE13; gain-of-function mutation; increased channel activity; impaired channel inactivation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000210663 rs869312966 CA358166 |
1620 | R>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000239729 CA10586297 RCV001091246 rs879255707 |
1621 | L>W | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA384880402 RCV000623014 rs1555230924 |
1622 | A>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10586298 rs879255708 RCV000239742 |
1625 | G>R | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002537987 RCV001289208 rs886044328 |
1626 | R>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1938702028 RCV002069309 RCV001238629 |
1627 | I>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555230928 CA384880437 RCV000988851 |
1628 | L>S | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA384880442 rs1592174265 TCGA novel RCV000800992 |
1629 | R>C | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
rs1085307999 RCV000851494 CA384880453 RCV001858503 |
1631 | I>T | Early infantile epileptic encephalopathy with suppression bursts Autism [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001780241 rs1938703307 RCV001542091 RCV001306078 |
1638 | R>C | Early infantile epileptic encephalopathy with suppression bursts Global developmental delay [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1938703650 RCV001089737 |
1642 | F>L | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1938703803 RCV001304823 RCV002292625 |
1645 | M>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000189284 CA318290 RCV002517015 rs796053223 |
1646 | M>L | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA384880625 rs773587801 RCV000822358 |
1648 | L>F | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1938704227 RCV001034181 |
1649 | P>H | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879255709 RCV001037482 RCV002275183 |
1650 | A>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000239758 CA10586299 RCV000390676 RCV000417005 VAR_071680 rs879255709 |
1650 | A>T | Developmental and epileptic encephalopathy, 13 DEE13 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001218421 rs1938704933 |
1656 | L>F | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1938705231 RCV001095674 |
1658 | L>F | Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000810356 CA384882430 rs1592174367 |
1672 | N>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs796053225 RCV002517897 CA318294 RCV000189286 |
1679 | E>K | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001253575 rs1023188648 CA236327446 RCV001321331 RCV001561633 |
1683 | D>N | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs794727442 RCV000176750 RCV002516713 CA242781 |
1718 | P>S | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000009467 rs587776703 |
1719 | P>missing | Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065082 rs1938709746 |
1719 | P>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000761580 VAR_082076 CA384883977 rs1565934070 |
1719 | P>R | Myoclonus, familial, 2 MYOCL2; decreased channel activity; results in significantly reduced inward sodium current without changes of voltage-dependent channel activation and inactivation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000685742 CA384884231 rs1555230980 |
1726 | E>* | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16043838 rs1057519190 RCV002286409 RCV000415934 |
1727 | H>Q | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078755 | 1754 | F>S | DEE13; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000814811 rs1592174549 CA384885066 |
1756 | I>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA384885096 rs1555231010 RCV000677422 |
1757 | V>D | SCN8A-related disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA384885087 rs1555231008 RCV000552965 |
1757 | V>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000209897 rs869312690 CA354191 |
1759 | N>S | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA384885163 RCV001201742 rs1555231013 RCV000512684 |
1760 | M>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000988852 rs1555231012 RCV000622903 CA384885161 |
1760 | M>T | Developmental and epileptic encephalopathy, 13 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001203843 rs1938712937 |
1760 | M>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001333731 rs1938713472 |
1766 | L>R | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000023031 VAR_067539 rs202151337 RCV001230237 CA128948 |
1768 | N>D | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts DEE13; gain-of-function mutation; results in increased persistent sodium currents and incomplete channel inactivation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001249745 rs1938714598 |
1778 | D>G | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001049909 rs1938715021 |
1783 | D>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000494231 rs1131691830 RCV002281575 CA384885535 |
1787 | T>N | Seizures, benign familial infantile, 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs961205540 RCV000594371 RCV001401136 CA236327597 |
1789 | Y>C | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1938715548 RCV001089538 |
1792 | W>* | Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879255710 RCV001059522 RCV000239746 VAR_076614 CA10586300 |
1801 | Q>E | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 DEE13; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1295392795 RCV001323008 CA384886111 |
1810 | D>E | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV001320182 rs1938717640 |
1814 | A>G | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747526439 RCV001214167 CA384886370 |
1820 | R>* | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001206283 CA236327645 rs919754724 |
1820 | R>Q | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001751384 RCV001211072 rs1938719619 |
1827 | I>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002343547 RCV000763861 RCV000703318 CA6571922 rs764115258 |
1827 | I>V | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767305170 CA6571925 RCV000706526 |
1831 | A>T | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 4.641e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs202187894 RCV000658649 RCV000636317 CA6571926 |
1836 | M>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001235900 rs1938720718 |
1839 | G>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1938720909 RCV001227231 |
1841 | R>P | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000793161 rs1592174793 CA384887413 |
1850 | A>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs796053227 CA318298 RCV000792213 RCV000189288 |
1852 | T>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000992913 RCV000791829 rs1410900258 CA384887536 |
1853 | K>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001340057 rs1938723095 |
1864 | I>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_078756 | 1865 | L>P | DEE13; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000521968 rs1555231108 RCV002525172 CA384887889 |
1866 | R>Q | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1938723469 RCV002285455 RCV001207769 |
1866 | R>W | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565934425 CA384887991 RCV000694955 |
1869 | M>I | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000762898 RCV001215479 RCV000481897 rs1064794727 CA16619566 |
1869 | M>T | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs879255711 RCV000239760 CA10586301 |
1870 | E>D | Developmental and epileptic encephalopathy, 13 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA318301 RCV000189290 rs796053229 VAR_076615 RCV002517898 |
1872 | R>L | Early infantile epileptic encephalopathy with suppression bursts DEE13; gain-of-function mutation; increased channel activity; impaired channel inactivation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA10586302 RCV000704631 RCV000239745 rs796053229 RCV000523884 VAR_076616 |
1872 | R>Q | Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 13 DEE13; gain-of-function mutation; increased channel activity; impaired channel inactivation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA318300 RCV002252035 VAR_071681 COSM940590 RCV000189289 COSM940591 RCV000239726 RCV002281572 RCV000229600 RCV000416947 rs796053228 |
1872 | R>W | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts large_intestine Seizures, benign familial infantile, 5 Variant assessed as Somatic; impact. endometrium DEE13; gain-of-function mutation; increased channel activity; impaired channel inactivation; no effect on interactions with FGF14, SCN1B, GNB2 and GNG3 [ClinVar, Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs1938724998 RCV001034295 |
1874 | V>G | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000467598 RCV000118288 rs587780455 VAR_076617 RCV000416967 CA289040 RCV000239702 RCV002274920 RCV000239630 |
1877 | N>S | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts Focal epilepsy Seizures, benign familial infantile, 5 DEE13 and BFIS5; also found in a patient with drug-resistant focal epilepsy and mild intellectual disability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1555231128 RCV002508803 RCV001343699 |
1880 | K>E | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1938725748 RCV001041278 |
1880 | K>N | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001204038 rs1938725665 |
1880 | K>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
CA384888287 rs1592174945 RCV000812885 |
1882 | S>Y | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002315304 CA384888351 rs1411587460 |
1886 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000793606 CA384888366 rs1592174975 |
1887 | T>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA384888435 RCV000658650 rs1555231135 RCV001215294 |
1891 | R>H | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA384888449 RCV000687421 RCV000713159 rs1565934531 |
1892 | R>H | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001037773 rs1938728013 |
1899 | A>V | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000636283 RCV002533204 rs367984544 CA6571941 |
1904 | R>C | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002345777 rs142069713 COSM1362406 COSM1362407 CA6571942 RCV000799328 |
1904 | R>H | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. large_intestine Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6571947 RCV001297235 rs764108136 |
1912 | R>K | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs368796221 CA6571951 RCV001372084 RCV001330494 |
1921 | T>A | Early infantile epileptic encephalopathy with suppression bursts Cognitive impairment with or without cerebellar ataxia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002317157 RCV000658651 RCV000546940 CA318303 rs368796221 |
1921 | T>P | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001201465 CA6571953 rs748909364 |
1929 | G>A | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001253634 RCV001879873 rs1938732126 |
1931 | H>Q | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371766742 RCV000189292 CA318305 RCV002354533 RCV000529426 |
1932 | R>P | Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6571955 rs773966403 RCV000553439 |
1932 | R>W | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000189293 RCV001852504 CA318307 rs796053230 |
1937 | S>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001307616 rs376076659 CA6571961 |
1946 | S>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000636407 RCV001197747 rs369346315 RCV002317158 RCV000726306 CA318309 |
1960 | R>Q | Developmental and epileptic encephalopathy, 13 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA236327953 RCV001346691 rs1021136260 |
1960 | R>W | Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001312620 CA6571966 rs756678417 |
1964 | G>R | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs1565934813 RCV001592898 RCV000701512 CA384890630 |
1975 | V>A | Early infantile epileptic encephalopathy with suppression bursts Seizures, benign familial infantile, 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001034396 rs1938739577 |
1979 | K>T | Early infantile epileptic encephalopathy with suppression bursts [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000176751 RCV002317026 RCV000359420 RCV001084759 rs555793953 RCV000713152 |
1981 | C>= | Early infantile epileptic encephalopathy with suppression bursts Early Infantile Epileptic Encephalopathy, Autosomal Dominant Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
| rs745556675 | 11 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001091240 rs1940951167 |
19 | P>missing | No |
ClinVar dbSNP |
|
| rs1555214261 | 20 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768570935 | 28 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759888153 | 41 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000189295 rs775601133 |
45 | R>Q | No |
ClinVar dbSNP |
|
|
RCV000489713 rs757582223 |
48 | D>N | No |
ClinVar dbSNP |
|
|
RCV000521808 rs1313776714 |
70 | G>R | No |
ClinVar dbSNP |
|
| rs1555214322 | 82 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484586967 RCV000782050 |
87 | Y>* | No |
ClinVar dbSNP |
|
|
RCV000177279 rs773765456 |
101 | K>R | No |
ClinVar dbSNP |
|
| rs375480171 | 109 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs796053231 RCV000189296 |
111 | A>T | No |
ClinVar dbSNP |
|
| TCGA novel | 128 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1236722566 | 128 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 130 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 132 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 154 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057520361 RCV000420545 |
166 | T>I | No |
ClinVar dbSNP |
|
| TCGA novel | 177 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1029149299 RCV000578831 |
184 | I>V | No |
ClinVar dbSNP |
|
| TCGA novel | 189 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000364562 rs886042939 |
202 | I>N | No |
ClinVar dbSNP |
|
|
RCV000761829 rs796053233 |
205 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP |
|
rs1490133991 RCV000626173 |
206 | Y>* | No |
ClinVar dbSNP |
|
| TCGA novel | 217 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1064794715 RCV000484434 |
217 | S>P | No |
ClinVar dbSNP |
|
| TCGA novel | 221 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753589054 | 232 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 236 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555218605 CA385226359 |
238 | K>* | No |
ClinGen Ensembl |
|
|
RCV000479112 CA16619556 rs1064793923 |
240 | I>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555218610 CA385226408 |
246 | Q>* | No |
ClinGen Ensembl |
|
|
rs1555218613 CA385226427 |
249 | K>* | No |
ClinGen Ensembl |
|
|
rs1555218615 CA385226436 |
250 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 250 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001091242 rs1941649906 |
251 | L>R | No |
ClinVar dbSNP |
|
|
CA16619558 rs1064794782 RCV000478102 |
257 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA385226511 rs1555218638 |
261 | C>* | No |
ClinGen Ensembl |
|
| TCGA novel | 264 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA236262528 rs866387725 |
266 | A>V | No |
ClinGen Ensembl |
|
|
rs878853250 CA385226547 |
267 | L>* | No |
ClinGen Ensembl |
|
|
rs1085308013 RCV001091243 |
268 | I>F | No |
ClinVar dbSNP |
|
|
rs1085308013 RCV000489449 CA385226551 |
268 | I>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA385226560 rs1555218644 |
269 | G>* | No |
ClinGen Ensembl |
|
| TCGA novel | 270 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1322444 CA318319 COSM1322443 rs796053234 RCV000189299 |
273 | F>L | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1489971593 CA385226589 |
274 | M>L | No |
ClinGen gnomAD |
|
|
rs1306420940 CA385226608 |
276 | N>S | No |
ClinGen TOPMed |
|
|
CA385226633 rs1555218661 |
280 | K>* | No |
ClinGen Ensembl |
|
|
rs1555218664 CA385226645 |
281 | C>* | No |
ClinGen Ensembl |
|
|
rs775342033 CA6571158 |
283 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA385226664 rs1555218667 |
284 | W>* | No |
ClinGen Ensembl |
|
|
CA385226671 rs1188230008 |
285 | P>L | No |
ClinGen Ensembl |
|
|
CA385226700 rs1175971552 |
289 | N>S | No |
ClinGen gnomAD |
|
|
CA385226706 rs1555218674 |
290 | E>* | No |
ClinGen Ensembl |
|
|
rs760924400 CA6571162 |
292 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1555218680 TCGA novel CA385226735 |
294 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
CA385226760 rs1162620379 |
297 | T>I | No |
ClinGen gnomAD |
|
|
CA385226763 rs1555218684 |
298 | K>* | No |
ClinGen Ensembl |
|
|
CA385226769 rs1464305551 |
299 | G>S | No |
ClinGen TOPMed |
|
|
CA385226796 rs1555218690 |
302 | W>* | No |
ClinGen Ensembl |
|
|
rs1555218691 CA385226801 |
303 | E>* | No |
ClinGen Ensembl |
|
|
rs1555218693 CA385226809 |
304 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 304 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385226820 rs1296360211 |
305 | Y>F | No |
ClinGen gnomAD |
|
|
CA385226847 rs1555218699 |
309 | K>* | No |
ClinGen Ensembl |
|
|
rs776767367 CA6571180 |
317 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555218910 CA385226934 |
320 | E>* | No |
ClinGen Ensembl |
|
|
CA385226965 rs1555218911 |
324 | C>* | No |
ClinGen Ensembl |
|
|
rs776048628 CA6571183 |
327 | S>G | No |
ClinGen ExAC gnomAD |
|
|
RCV001091244 rs776048628 |
327 | S>R | No |
ClinVar dbSNP |
|
|
CA6571184 rs763389783 |
327 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555219117 CA385227039 |
333 | C>* | No |
ClinGen Ensembl |
|
|
CA385227049 rs1555219120 |
335 | E>* | No |
ClinGen Ensembl |
|
|
rs1555219122 CA385227057 |
336 | G>* | No |
ClinGen Ensembl |
|
|
rs1555219124 CA385227083 |
339 | C>* | No |
ClinGen Ensembl |
|
| TCGA novel | 339 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6571199 rs770066284 |
340 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228378587 CA385227086 |
340 | M>V | No |
ClinGen TOPMed |
|
|
rs1555219128 CA385227095 |
341 | K>* | No |
ClinGen Ensembl |
|
|
CA385227109 rs1555219129 |
343 | G>* | No |
ClinGen Ensembl |
|
|
rs775362125 CA385227113 |
344 | R>G | No |
ClinGen ExAC TOPMed |
|
|
rs929312159 CA236263226 |
344 | R>M | No |
ClinGen TOPMed |
|
| TCGA novel | 345 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 353 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241368717 CA385227221 |
358 | W>* | No |
ClinGen gnomAD |
|
|
CA385227223 rs1241368717 |
358 | W>C | No |
ClinGen gnomAD |
|
|
rs1555219137 CA385227240 |
361 | L>* | No |
ClinGen Ensembl |
|
|
COSM940536 CA236263233 rs867660463 COSM940535 |
365 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA318248 rs796053209 RCV000189260 RCV001807118 |
367 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA385227321 rs1555219152 |
372 | W>* | No |
ClinGen Ensembl |
|
|
rs1555219156 CA385227326 |
373 | E>* | No |
ClinGen Ensembl |
|
|
RCV000658647 CA385227329 rs1555219158 |
373 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA385227342 rs1555219162 |
375 | L>* | No |
ClinGen Ensembl |
|
|
rs1555219164 CA385227357 |
377 | Q>* | No |
ClinGen Ensembl |
|
|
CA385227365 rs1555219167 |
378 | L>* | No |
ClinGen Ensembl |
|
|
rs761124273 CA6571224 |
379 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000416108 rs1057519210 CA16043858 |
381 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 382 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555219479 CA385227549 |
385 | K>* | No |
ClinGen Ensembl |
|
|
CA385227614 rs1334454056 |
389 | I>F | No |
ClinGen TOPMed |
|
|
CA6571229 COSM1362379 COSM1362378 rs752265946 |
392 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1555219487 CA385227669 |
393 | L>* | No |
ClinGen Ensembl |
|
|
rs184287433 CA236263813 |
397 | V>M | No |
ClinGen 1000Genomes |
|
| TCGA novel | 403 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555219494 CA385227877 |
405 | L>* | No |
ClinGen Ensembl |
|
|
rs1565893686 CA385227915 RCV000734133 |
406 | I>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555219496 CA385227928 |
407 | L>* | No |
ClinGen Ensembl |
|
|
rs1555219495 CA385227922 RCV000497357 |
407 | L>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555219509 CA385228081 |
415 | E>* | No |
ClinGen Ensembl |
|
|
rs1555219513 CA385228096 |
416 | E>* | No |
ClinGen Ensembl |
|
|
CA385228111 rs1555219515 |
417 | Q>* | No |
ClinGen Ensembl |
|
|
rs1555219517 CA385228148 |
419 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 420 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555219525 CA385228199 |
423 | E>* | No |
ClinGen Ensembl |
|
|
CA385228214 rs1186392511 |
424 | E>* | No |
ClinGen gnomAD |
|
|
CA385228211 rs1186392511 |
424 | E>K | No |
ClinGen gnomAD |
|
|
rs1169656892 CA385228235 |
425 | A>E | No |
ClinGen gnomAD |
|
|
CA385228227 rs1475778485 |
425 | A>T | No |
ClinGen gnomAD |
|
|
CA385228241 rs1417475021 |
426 | E>* | No |
ClinGen gnomAD |
|
|
CA385228240 rs1417475021 |
426 | E>K | No |
ClinGen gnomAD |
|
|
CA385228258 rs1409555103 |
427 | Q>* | No |
ClinGen gnomAD |
|
|
CA385228255 rs1409555103 |
427 | Q>K | No |
ClinGen gnomAD |
|
|
CA385228274 rs1555219537 |
428 | K>* | No |
ClinGen Ensembl |
|
|
CA385228289 rs1555219539 |
429 | E>* | No |
ClinGen Ensembl |
|
|
CA385228316 rs1555219541 |
431 | E>* | No |
ClinGen Ensembl |
|
|
rs1555219543 CA385228400 |
436 | L>* | No |
ClinGen Ensembl |
|
|
rs1555219547 CA385228410 |
437 | E>* | No |
ClinGen Ensembl |
|
|
rs1555219550 CA385228446 |
440 | K>* | No |
ClinGen Ensembl |
|
|
rs1003938127 CA236263830 |
440 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1555219558 CA385228462 |
441 | K>* | No |
ClinGen Ensembl |
|
|
CA385228497 rs1555219560 |
443 | Q>* | No |
ClinGen Ensembl |
|
|
rs1555219568 CA385228509 |
444 | E>* | No |
ClinGen Ensembl |
|
|
CA385228529 rs1555219574 |
445 | E>* | No |
ClinGen Ensembl |
|
|
rs1327671990 CA385228550 |
446 | A>E | No |
ClinGen gnomAD |
|
|
CA6571254 rs755154133 RCV000658199 |
450 | A>V | Variant assessed as Somatic; 0.0006193 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA236263995 rs961308028 |
451 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 455 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555219687 CA385228644 |
456 | G>* | No |
ClinGen Ensembl |
|
|
rs1325778887 CA385228654 |
458 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1555219697 CA385228668 |
460 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 462 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385228696 rs1555219699 |
464 | E>* | No |
ClinGen Ensembl |
|
|
CA385228704 rs866117094 |
465 | E>* | No |
ClinGen gnomAD |
|
|
CA236264000 rs866117094 |
465 | E>K | No |
ClinGen gnomAD |
|
|
rs557559740 CA385228710 |
466 | E>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 467 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385228722 rs1398266993 |
467 | G>V | No |
ClinGen TOPMed |
|
|
CA385228725 rs1555219703 |
468 | E>* | No |
ClinGen Ensembl |
|
|
CA385228733 rs1555219706 |
469 | E>* | No |
ClinGen Ensembl |
|
|
rs1555219708 CA385228740 |
470 | G>* | No |
ClinGen Ensembl |
|
|
CA385228752 rs1298177137 |
472 | G>C | No |
ClinGen TOPMed |
|
|
rs758546871 CA6571257 |
472 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA385228750 rs1298177137 |
472 | G>S | No |
ClinGen TOPMed |
|
|
CA385228759 rs1200809991 |
473 | S>C | No |
ClinGen gnomAD |
|
|
rs928008352 CA236264010 |
474 | P>L | No |
ClinGen Ensembl |
|
|
rs1160066733 CA385228763 |
474 | P>S | No |
ClinGen TOPMed |
|
|
COSM1299521 COSM1299522 rs771577480 CA6571260 |
475 | R>W | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA385228787 rs1454051957 |
478 | S>F | No |
ClinGen gnomAD |
|
|
CA385228790 rs1555219731 |
479 | E>* | No |
ClinGen Ensembl |
|
|
rs1448021138 CA385228796 |
480 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA385228809 rs1555219734 |
482 | K>* | No |
ClinGen Ensembl |
|
|
CA385228812 rs769520392 |
482 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA6571263 rs775328249 |
483 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347263498 CA385228819 |
483 | L>P | No |
ClinGen gnomAD |
|
|
CA385228823 rs1300760560 |
484 | S>G | No |
ClinGen gnomAD |
|
|
CA385228836 rs1555219745 |
486 | K>* | No |
ClinGen Ensembl |
|
|
rs200027738 CA6571266 |
488 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385228858 rs1555219749 |
489 | K>* | No |
ClinGen Ensembl |
|
|
CA385228866 rs1555219752 |
490 | E>* | No |
ClinGen Ensembl |
|
|
CA385228873 rs1555219754 |
491 | R>* | No |
ClinGen Ensembl |
|
|
rs1350447078 CA385228875 |
491 | R>T | No |
ClinGen gnomAD |
|
|
CA385228879 rs576362165 |
492 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385228899 rs1555219759 |
495 | R>* | No |
ClinGen Ensembl |
|
| TCGA novel | 495 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555219763 CA385228907 |
496 | K>* | No |
ClinGen Ensembl |
|
|
CA385228912 rs760514652 |
496 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA385228909 rs1490018848 |
496 | K>R | No |
ClinGen gnomAD |
|
|
rs1555219767 CA385228914 |
497 | K>* | No |
ClinGen Ensembl |
|
|
rs1555219772 CA385228930 |
499 | K>* | No |
ClinGen Ensembl |
|
|
rs1419127818 CA385228946 |
501 | K>* | No |
ClinGen gnomAD |
|
|
rs1419127818 CA385228945 |
501 | K>E | No |
ClinGen gnomAD |
|
|
rs201487381 CA385228953 |
502 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs765415721 CA6571270 |
502 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1022856027 CA236264034 |
503 | L>I | No |
ClinGen TOPMed |
|
|
rs1418884810 CA385228961 |
503 | L>R | No |
ClinGen gnomAD |
|
|
CA385228971 rs1555219791 |
505 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 505 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758393038 CA385228978 |
506 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385228981 rs1401253538 |
506 | G>V | No |
ClinGen gnomAD |
|
|
rs777851383 CA385228983 |
507 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6571274 rs371383623 |
507 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA385228989 rs1555219798 |
508 | E>* | No |
ClinGen Ensembl |
|
|
rs1555219806 CA385228997 |
509 | K>* | No |
ClinGen Ensembl |
|
|
CA6571276 rs746209495 |
510 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs781769124 CA6571275 |
510 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA385229023 rs1246972517 |
513 | E>* | No |
ClinGen gnomAD |
|
|
rs1246972517 CA385229021 |
513 | E>K | No |
ClinGen gnomAD |
|
|
CA385229031 rs1555219826 |
514 | K>* | No |
ClinGen Ensembl |
|
|
rs1555219830 CA385229053 |
517 | K>* | No |
ClinGen Ensembl |
|
|
CA236264047 rs999818322 |
518 | S>P | No |
ClinGen Ensembl |
|
|
rs1384673865 CA385229066 |
519 | E>* | No |
ClinGen TOPMed |
|
|
rs1384673865 CA385229064 |
519 | E>K | No |
ClinGen TOPMed |
|
|
CA6571279 rs748915858 |
520 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA385229079 rs1555219835 |
521 | E>* | No |
ClinGen Ensembl |
|
|
rs1555219843 CA385229108 |
525 | R>* | No |
ClinGen Ensembl |
|
|
CA385229117 rs773875275 |
526 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385229122 rs1555219846 |
527 | K>* | No |
ClinGen Ensembl |
|
|
rs1053180463 CA385229132 |
528 | A>D | No |
ClinGen TOPMed |
|
|
rs1053180463 CA236264054 |
528 | A>V | No |
ClinGen TOPMed |
|
|
rs771976211 CA6571283 |
530 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA385229171 rs1555219864 RCV000761830 |
535 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs748289095 CA236264071 |
542 | I>M | No |
ClinGen Ensembl |
|
|
CA385229240 rs1555219877 |
545 | Q>* | No |
ClinGen Ensembl |
|
|
rs939950650 CA236264074 |
545 | Q>H | No |
ClinGen TOPMed |
|
|
rs763167976 CA6571288 |
545 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA385229270 rs1447561425 |
548 | L>F | No |
ClinGen gnomAD |
|
|
rs957905474 CA385229301 |
552 | G>V | No |
ClinGen gnomAD |
|
|
rs1555221465 CA385229305 |
553 | S>* | No |
ClinGen Ensembl |
|
|
CA6571303 rs771638928 |
555 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1264632908 CA385229324 |
556 | L>P | No |
ClinGen gnomAD |
|
|
rs200821771 CA6571305 |
557 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6571306 rs770777288 |
558 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6571307 rs776446104 |
559 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA385229362 rs1555221475 |
562 | K>* | No |
ClinGen Ensembl |
|
|
CA236266899 rs995649866 |
562 | K>R | No |
ClinGen TOPMed |
|
|
rs774474355 CA6571309 |
563 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1565899709 CA385229367 |
563 | S>R | No |
ClinGen Ensembl |
|
|
rs761977560 CA6571310 |
564 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs987460772 CA236266905 |
566 | F>L | No |
ClinGen Ensembl |
|
|
CA6571312 rs750538349 |
569 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA385229418 rs1555221483 |
570 | G>* | No |
ClinGen Ensembl |
|
|
CA385229423 rs1565899754 |
571 | P>A | No |
ClinGen Ensembl |
|
|
rs754209129 CA6571314 |
571 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA385229434 rs1298127852 |
573 | R>Q | No |
ClinGen gnomAD |
|
|
rs1555221488 CA385229446 |
575 | R>* | No |
ClinGen Ensembl |
|
|
CA385229448 rs1407283442 |
575 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1407283442 CA385229447 |
575 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs373820887 CA6571318 |
577 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373820887 CA6571319 |
577 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746553586 CA6571320 |
578 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385229474 rs1318533064 |
580 | E>* | No |
ClinGen gnomAD |
|
|
rs1318533064 CA385229472 |
580 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385229490 rs1555221492 |
582 | E>* | No |
ClinGen Ensembl |
|
|
rs745641690 CA6571323 |
582 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 584 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1131691327 CA385229527 RCV000494545 |
587 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 588 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385229560 rs1592405847 |
591 | V>G | No |
ClinGen Ensembl |
|
|
CA385229563 rs1555221497 |
592 | E>* | No |
ClinGen Ensembl |
|
|
CA385229571 rs1555221498 |
593 | E>* | No |
ClinGen Ensembl |
|
|
CA385229585 rs754372794 |
595 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA6571331 rs754372794 |
595 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 597 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6571335 rs758005355 |
602 | F>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 604 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs960926390 CA236266941 |
605 | I>T | No |
ClinGen TOPMed |
|
|
CA385229666 COSM431301 COSM431300 rs1355458422 |
609 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs917515945 CA385229675 |
610 | R>C | No |
ClinGen gnomAD |
|
|
rs1438139623 CA385229676 |
610 | R>H | No |
ClinGen gnomAD |
|
|
rs1438139623 CA385229678 |
610 | R>L | No |
ClinGen gnomAD |
|
|
rs917515945 CA236266950 |
610 | R>S | No |
ClinGen gnomAD |
|
|
CA6571339 rs745847594 |
611 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6571340 rs775387492 |
612 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1404251540 CA385229696 |
614 | Y>H | No |
ClinGen gnomAD |
|
|
rs1049676859 COSM1362388 COSM1362389 CA236266960 |
616 | G>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA236266965 rs201848186 |
617 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA385229720 rs1308021407 RCV001290666 |
617 | Y>C | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs773608650 CA6571344 |
617 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs180727641 CA236266968 |
620 | Y>* | No |
ClinGen 1000Genomes |
|
|
CA236266970 rs904935804 |
621 | S>T | No |
ClinGen Ensembl |
|
|
rs770975429 CA6571348 |
622 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1282369443 CA385229762 |
623 | G>A | No |
ClinGen gnomAD |
|
|
CA6571349 rs776787117 |
624 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs912580884 CA236266975 |
625 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6571352 rs753009673 |
626 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385229790 rs763701191 |
628 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA385229789 rs763701191 |
628 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236266982 rs1036936421 |
629 | I>V | No |
ClinGen TOPMed |
|
|
CA236266983 rs878945462 |
632 | S>R | No |
ClinGen Ensembl |
|
|
CA6571356 rs756775458 |
633 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA385229819 rs756775458 |
633 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780504431 CA6571357 |
634 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780504431 CA385229824 |
634 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170128241 CA385229822 |
634 | R>W | No |
ClinGen gnomAD |
|
|
rs749983172 CA6571358 |
635 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236266988 rs1053543226 |
636 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1266248886 CA385229840 |
637 | V>A | No |
ClinGen TOPMed |
|
|
rs755960523 CA6571359 |
637 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1555221551 CA385229842 |
638 | K>* | No |
ClinGen Ensembl |
|
|
CA385229858 rs1332024650 |
640 | N>S | No |
ClinGen gnomAD |
|
|
rs893617503 CA236266992 |
641 | S>I | No |
ClinGen Ensembl |
|
|
CA6571361 rs749060752 |
641 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1009369220 CA236266995 |
642 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6571363 rs778129069 |
643 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1316176252 CA385229874 COSM1512266 COSM1512267 |
643 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6571364 rs747144696 |
644 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1555221560 CA385229892 |
645 | C>* | No |
ClinGen Ensembl |
|
|
rs1198938905 CA385229909 |
648 | V>L | No |
ClinGen gnomAD |
|
|
rs1048609401 CA236267002 |
652 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1020814791 CA236267004 |
653 | G>S | No |
ClinGen Ensembl |
|
|
rs905574009 CA385229944 |
654 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA236267008 rs954650071 |
655 | P>S | No |
ClinGen Ensembl |
|
|
rs768554772 RCV000189305 |
655 | P>missing | No |
ClinVar dbSNP |
|
|
CA6571368 rs759683682 |
656 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA385229974 rs1209436770 |
659 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1382534024 CA385229989 |
661 | G>E | No |
ClinGen gnomAD |
|
|
CA385229986 rs1302775657 |
661 | G>R | No |
ClinGen TOPMed |
|
|
rs76222829 CA6571369 |
662 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs776013286 CA6571370 |
662 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236267014 rs776013286 |
662 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385230001 rs1284074384 |
664 | L>V | No |
ClinGen gnomAD |
|
|
rs1001305322 CA385230006 |
665 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA236267017 rs1001305322 |
665 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385230005 rs1001305322 |
665 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs764497118 CA385230011 |
666 | E>* | No |
ClinGen ExAC TOPMed |
|
|
rs764497118 CA6571372 |
666 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs932949364 CA236309244 |
669 | T>A | No |
ClinGen gnomAD |
|
|
rs1555223832 CA384878235 |
670 | E>* | No |
ClinGen Ensembl |
|
|
CA6571406 rs746142874 |
671 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs781261493 CA6571405 |
671 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA384878260 rs1555223837 |
672 | E>* | No |
ClinGen Ensembl |
|
|
rs756339734 CA6571407 |
673 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555223838 CA384878293 |
674 | K>* | No |
ClinGen Ensembl |
|
|
CA384878345 rs1555223840 |
675 | K>* | No |
ClinGen Ensembl |
|
|
CA6571409 rs780039059 |
675 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA384878375 rs1555223842 |
676 | K>* | No |
ClinGen Ensembl |
|
|
CA236309249 rs751743305 |
677 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1555223845 CA384878442 |
679 | G>* | No |
ClinGen Ensembl |
|
|
CA384878447 rs1234398100 |
679 | G>E | No |
ClinGen gnomAD |
|
|
rs1483503223 CA384878511 |
682 | L>S | No |
ClinGen TOPMed |
|
|
rs1163964271 CA384878557 |
685 | M>V | No |
ClinGen gnomAD |
|
|
CA6571412 rs373073046 |
686 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs181076505 CA236309270 |
687 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM940552 CA6571414 rs181076505 COSM940553 |
687 | Q>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs766163250 CA6571416 |
693 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555223860 CA384878780 |
694 | K>* | No |
ClinGen Ensembl |
|
|
CA384878794 rs1327766326 |
694 | K>N | No |
ClinGen TOPMed |
|
|
CA6571417 rs776230064 |
694 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555223869 CA384878832 |
696 | R>* | No |
ClinGen Ensembl |
|
|
rs1396008576 CA384878849 |
697 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 701 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592140302 CA384878955 |
703 | V>I | No |
ClinGen Ensembl |
|
|
CA384878969 rs1316992880 |
704 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs758110654 CA6571421 |
708 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA384879057 rs1555223875 |
710 | E>* | No |
ClinGen Ensembl |
|
|
CA6571422 rs763887945 |
710 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384879076 rs1555223877 |
711 | E>* | No |
ClinGen Ensembl |
|
|
rs1555224345 CA384879688 |
713 | E>* | No |
ClinGen Ensembl |
|
|
rs1555224345 CA384879687 |
713 | E>Q | No |
ClinGen Ensembl |
|
|
rs1555224347 CA384879696 |
714 | E>* | No |
ClinGen Ensembl |
|
|
rs1555224350 CA384879710 |
716 | Q>* | No |
ClinGen Ensembl |
|
|
CA384879717 rs1555224351 |
717 | R>* | No |
ClinGen Ensembl |
|
|
rs1555224352 CA384879725 |
718 | K>* | No |
ClinGen Ensembl |
|
|
rs866657235 CA384879737 |
719 | C>* | No |
ClinGen Ensembl |
|
|
rs1592142732 CA384879735 |
719 | C>S | No |
ClinGen Ensembl |
|
|
rs1223946134 CA384879749 |
721 | P>L | No |
ClinGen gnomAD |
|
|
rs1555224370 CA384879756 |
722 | C>* | No |
ClinGen Ensembl |
|
|
rs1555224371 CA384879764 |
723 | W>* | No |
ClinGen Ensembl |
|
|
CA384879759 rs1477846136 |
723 | W>R | No |
ClinGen gnomAD |
|
|
rs758891438 CA384879776 |
725 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA6571450 rs758891438 |
725 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1382581428 CA384879779 |
725 | K>I | No |
ClinGen gnomAD |
|
|
CA384879778 rs1382581428 |
725 | K>R | No |
ClinGen gnomAD |
|
|
rs979349086 CA236311203 |
729 | T>S | No |
ClinGen gnomAD |
|
|
rs923938885 CA384879809 |
730 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA236311206 rs923938885 RCV000994921 |
730 | F>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1375877011 CA384879823 |
732 | I>V | No |
ClinGen TOPMed |
|
|
TCGA novel rs1555224385 CA384879837 |
733 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs367742703 CA384879839 |
734 | E>* | No |
ClinGen ESP ExAC |
|
|
rs367742703 CA6571452 |
734 | E>K | No |
ClinGen ESP ExAC |
|
|
rs1555224386 CA384879851 |
735 | C>* | No |
ClinGen Ensembl |
|
|
CA384879855 rs1325025211 |
736 | H>Y | No |
ClinGen gnomAD |
|
|
CA384879883 rs1555224389 |
739 | W>* | No |
ClinGen Ensembl |
|
|
CA384879893 rs1555224393 |
741 | K>* | No |
ClinGen Ensembl |
|
|
CA236311216 rs1372192 |
742 | L>M | No |
ClinGen Ensembl |
|
|
CA384879905 rs1555224399 |
743 | K>* | No |
ClinGen Ensembl |
|
|
CA384879912 rs1555224404 |
744 | E>* | No |
ClinGen Ensembl |
|
|
CA384879934 rs1435372901 |
747 | N>D | No |
ClinGen gnomAD |
|
|
rs1555224406 CA384879942 |
748 | L>* | No |
ClinGen Ensembl |
|
|
rs1379759043 CA384879964 |
751 | M>T | No |
ClinGen TOPMed |
|
|
rs1565910814 CA384879961 |
751 | M>V | No |
ClinGen Ensembl |
|
|
rs1378876523 CA384880019 |
759 | I>V | No |
ClinGen gnomAD |
|
|
rs1555224424 CA384880043 |
762 | C>* | No |
ClinGen Ensembl |
|
|
rs1229931495 COSM86448 CA384880052 |
764 | V>I | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 769 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555224431 CA384880112 |
773 | E>* | No |
ClinGen Ensembl |
|
|
rs1592142876 CA384880123 |
774 | H>P | No |
ClinGen Ensembl |
|
|
CA384880122 rs1565910864 |
774 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 775 | H>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199545655 CA384880143 |
777 | M>V | No |
ClinGen gnomAD |
|
|
CA6571456 rs769335857 |
779 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555224436 CA384880164 |
780 | Q>* | No |
ClinGen Ensembl |
|
|
rs1555224438 CA384880180 |
782 | E>* | No |
ClinGen Ensembl |
|
|
rs1200135027 CA384880188 |
783 | H>Y | No |
ClinGen TOPMed |
|
|
CA384880202 rs1555224440 |
785 | L>* | No |
ClinGen Ensembl |
|
|
rs1555224443 CA384880221 |
788 | G>* | No |
ClinGen Ensembl |
|
|
rs1555225480 CA384882890 |
794 | G>* | No |
ClinGen Ensembl |
|
|
rs1555225481 CA384882967 RCV000523256 |
796 | F>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1482268495 CA384883009 |
797 | T>A | No |
ClinGen gnomAD |
|
|
CA384883129 rs1555225483 |
799 | E>* | No |
ClinGen Ensembl |
|
|
rs779614976 CA6571474 |
800 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs748828215 CA6571475 |
801 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA384883299 rs1555225485 |
803 | K>* | No |
ClinGen Ensembl |
|
|
CA384883394 rs1280217170 |
805 | I>M | No |
ClinGen gnomAD |
|
|
CA6571476 rs768214313 |
810 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1256768510 CA384883734 |
814 | Q>L | No |
ClinGen gnomAD |
|
|
CA384883776 rs1555225495 |
815 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 817 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384884114 rs1555225498 |
822 | G>* | No |
ClinGen Ensembl |
|
|
rs368457455 CA236315791 |
822 | G>A | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 822 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384884415 rs1555225505 |
831 | E>* | No |
ClinGen Ensembl |
|
|
rs1555225512 CA384884608 |
838 | E>* | No |
ClinGen Ensembl |
|
|
CA384884736 RCV000489752 rs1085307940 |
842 | V>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA384884759 rs1555225521 RCV000627265 |
844 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1057518356 CA16042904 RCV000413870 |
845 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555225532 CA384884826 |
847 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs886043686 CA384884857 |
848 | L>* | No |
ClinGen Ensembl |
|
|
rs1555225782 CA384886453 |
850 | R>* | No |
ClinGen Ensembl |
|
|
rs1555225786 CA384886775 |
858 | W>* | No |
ClinGen Ensembl |
|
|
CA384887007 rs1555225793 |
866 | K>* | No |
ClinGen Ensembl |
|
|
CA384887064 rs1555225796 |
869 | G>* | No |
ClinGen Ensembl |
|
|
rs1440030009 CA605238522 |
872 | V>D | No |
ClinGen gnomAD |
|
| TCGA novel | 872 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592149762 CA384887331 |
877 | N>T | No |
ClinGen Ensembl |
|
|
CA318258 rs1555225807 |
881 | V>A | No |
ClinGen Ensembl |
|
|
rs1392944361 CA384887557 |
888 | I>V | No |
ClinGen gnomAD |
|
|
rs1555225813 CA384887857 |
898 | G>* | No |
ClinGen Ensembl |
|
|
CA384887995 rs1555225814 |
902 | K>* | No |
ClinGen Ensembl |
|
|
rs1555225815 CA384888020 |
903 | E>* | No |
ClinGen Ensembl |
|
|
CA384888074 rs1555225819 |
904 | C>* | No |
ClinGen Ensembl |
|
|
rs1555225821 CA384888139 |
906 | C>* | No |
ClinGen Ensembl |
|
|
CA384888162 rs1555225822 |
907 | K>* | No |
ClinGen Ensembl |
|
|
CA384888194 rs1307522028 |
907 | K>T | No |
ClinGen gnomAD |
|
|
CA6571506 rs776493877 |
909 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772969495 CA236317171 |
910 | Q>H | No |
ClinGen Ensembl |
|
|
rs1555225826 CA384888311 |
912 | C>* | No |
ClinGen Ensembl |
|
|
rs1555225828 CA384888319 |
913 | E>* | No |
ClinGen Ensembl |
|
|
CA384888446 rs1555225829 |
917 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 918 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 922 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384888884 rs1555225831 COSM940561 COSM940560 |
931 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA384888940 rs1555225832 |
933 | L>* | No |
ClinGen Ensembl |
|
|
rs762791287 CA384888990 |
934 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555225833 CA384889066 |
936 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 936 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384889130 rs1555225835 |
937 | W>* | No |
ClinGen Ensembl |
|
|
rs1555225836 CA384889215 |
939 | E>* | No |
ClinGen Ensembl |
|
|
rs1592149876 RCV001008239 |
943 | D>missing | No |
ClinVar dbSNP |
|
|
CA384889403 rs1555225839 |
944 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA384889438 rs1555225840 |
946 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 951 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555225842 CA384889733 |
953 | C>* | No |
ClinGen Ensembl |
|
|
rs1370302435 CA384890073 |
962 | V>A | No |
ClinGen gnomAD |
|
|
CA384890192 rs1555225844 |
966 | L>* | No |
ClinGen Ensembl |
|
|
rs1555226075 CA384891716 |
975 | L>* | No |
ClinGen Ensembl |
|
|
rs1942877999 RCV001200085 |
976 | L>F | No |
ClinVar dbSNP |
|
|
RCV000658099 rs1555226079 CA384891746 |
977 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6571532 rs373040746 |
984 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384891865 rs373040746 |
984 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759936291 CA6571533 |
989 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1942878597 RCV001200086 |
989 | D>V | No |
ClinVar dbSNP |
|
|
CA236318486 rs74798508 |
990 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs80261247 CA236318493 |
991 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 992 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384892002 rs1555226086 |
993 | E>* | No |
ClinGen Ensembl |
|
|
CA236318497 rs944531427 |
994 | M>T | No |
ClinGen Ensembl |
|
|
CA384892109 rs1555226092 |
1005 | K>* | No |
ClinGen Ensembl |
|
|
CA384892117 rs1555226093 |
1006 | K>* | No |
ClinGen Ensembl |
|
|
rs1038879289 CA236318501 |
1006 | K>R | No |
ClinGen Ensembl |
|
|
CA236318515 rs895478717 |
1007 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs895478717 CA384892124 |
1007 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA384892126 rs1364677770 |
1008 | V>M | No |
ClinGen TOPMed |
|
|
CA384892144 rs1555226106 |
1010 | W>* | No |
ClinGen Ensembl |
|
|
rs1418996542 CA384892148 |
1011 | T>A | No |
ClinGen gnomAD |
|
|
CA384892155 rs1555226110 |
1012 | K>* | No |
ClinGen Ensembl |
|
|
rs1019969857 CA384892167 |
1014 | K>* | No |
ClinGen TOPMed |
|
|
rs1019969857 CA236318521 |
1014 | K>E | No |
ClinGen TOPMed |
|
|
CA384892172 rs1178772976 |
1014 | K>N | No |
ClinGen gnomAD |
|
|
CA384892190 rs1462825476 |
1017 | A>G | No |
ClinGen TOPMed |
|
|
CA6571538 rs751112057 |
1017 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6571539 rs781237471 |
1021 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs745625838 CA6571540 |
1022 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1360924922 CA384892260 |
1022 | H>R | No |
ClinGen gnomAD |
|
|
CA384892285 rs1429118069 |
1023 | F>L | No |
ClinGen TOPMed |
|
|
rs1555226121 CA384892292 |
1024 | K>* | No |
ClinGen Ensembl |
|
|
CA6571542 rs780010793 |
1026 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049459817 CA236318538 |
1028 | A>T | No |
ClinGen Ensembl |
|
|
CA384892351 rs1489318475 |
1029 | D>H | No |
ClinGen gnomAD |
|
|
CA384892368 rs1555226127 |
1030 | E>* | No |
ClinGen Ensembl |
|
|
CA384892384 rs1213802783 |
1031 | V>L | No |
ClinGen gnomAD |
|
|
rs1555226130 CA384892397 |
1032 | K>* | No |
ClinGen Ensembl |
|
|
rs1257884440 CA384892421 |
1033 | P>R | No |
ClinGen TOPMed |
|
|
CA384892451 rs1456107685 |
1035 | D>G | No |
ClinGen gnomAD |
|
|
rs571608674 CA6571545 |
1035 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1035 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384892463 rs771314494 |
1036 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs771314494 CA6571546 |
1036 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA384892486 rs1555226137 |
1037 | L>* | No |
ClinGen Ensembl |
|
|
rs1423545337 CA384892509 |
1039 | E>* | No |
ClinGen gnomAD |
|
|
rs1423545337 CA384892507 |
1039 | E>K | No |
ClinGen gnomAD |
|
|
CA384892523 rs1555226138 |
1040 | K>* | No |
ClinGen Ensembl |
|
|
CA6571547 rs777192592 |
1041 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1042 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555226140 CA384892613 |
1044 | C>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1044 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384892608 rs1395279881 |
1044 | C>Y | No |
ClinGen gnomAD |
|
|
CA384892620 rs1382764131 |
1045 | I>V | No |
ClinGen gnomAD |
|
|
rs1344073985 CA384892646 |
1046 | A>D | No |
ClinGen gnomAD |
|
|
CA6571550 rs775833241 |
1046 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6571556 rs779955579 |
1056 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA384892807 rs1251310776 |
1057 | G>D | No |
ClinGen gnomAD |
|
|
rs1555226150 CA384892872 |
1061 | K>* | No |
ClinGen Ensembl |
|
|
rs1592151547 CA384892910 |
1064 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 1067 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384893071 rs776703521 |
1074 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6571561 rs776703521 |
1074 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1555226153 CA384893084 |
1075 | E>* | No |
ClinGen Ensembl |
|
|
rs1555226155 CA384893100 |
1076 | K>* | No |
ClinGen Ensembl |
|
|
CA384893141 rs1565918070 |
1079 | I>T | No |
ClinGen Ensembl |
|
|
CA6571563 rs538883540 COSM3359797 COSM3359796 |
1079 | I>V | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA384893163 rs1555226156 |
1081 | E>* | No |
ClinGen Ensembl |
|
|
CA6571564 rs775782402 |
1082 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1434185294 CA384893246 |
1085 | S>F | No |
ClinGen TOPMed |
|
|
CA384893242 rs1331835028 |
1085 | S>T | No |
ClinGen gnomAD |
|
|
rs1195563229 CA384893253 |
1086 | F>L | No |
ClinGen TOPMed |
|
|
CA384893248 rs1395703313 |
1086 | F>L | No |
ClinGen TOPMed |
|
|
rs763424705 CA384893258 |
1087 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1158811458 CA384893280 |
1088 | N>S | No |
ClinGen Ensembl |
|
|
rs1271346690 CA384893318 |
1091 | N>Y | No |
ClinGen gnomAD |
|
|
CA384893341 rs1199484967 |
1092 | L>* | No |
ClinGen gnomAD |
|
|
CA384893346 rs1199484967 |
1092 | L>W | No |
ClinGen gnomAD |
|
|
CA6571572 rs575624653 |
1094 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA236318634 rs990388760 |
1095 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1098 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238494045 CA384893469 |
1098 | I>T | No |
ClinGen gnomAD |
|
|
rs1555226160 CA318260 |
1098 | I>V | No |
ClinGen Ensembl |
|
|
CA6571574 rs754870866 |
1100 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA236318645 rs1020976181 |
1101 | G>S | No |
ClinGen gnomAD |
|
|
rs1555226164 CA384893533 |
1102 | E>* | No |
ClinGen Ensembl |
|
|
rs747193336 CA6571576 |
1103 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236318650 rs778102571 |
1105 | F>C | No |
ClinGen Ensembl |
|
|
CA384893720 rs1555226169 |
1111 | E>* | No |
ClinGen Ensembl |
|
|
rs1280506919 CA384893728 |
1111 | E>D | No |
ClinGen TOPMed |
|
|
CA6571578 rs781204902 |
1112 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA384893853 rs1555226176 |
1116 | E>* | No |
ClinGen Ensembl |
|
|
rs770263378 CA384893891 |
1117 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA6571580 rs770263378 |
1117 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA384893904 rs1359740960 COSM1188494 COSM1188495 |
1118 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1555226183 CA384893942 |
1120 | E>* | No |
ClinGen Ensembl |
|
|
CA6571582 rs554826191 |
1122 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1555226186 CA384894019 |
1123 | K>* | No |
ClinGen Ensembl |
|
|
CA384894023 rs1391791500 |
1123 | K>R | No |
ClinGen TOPMed |
|
|
rs574382050 CA6571584 |
1124 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1263183279 CA384894980 |
1127 | D>N | No |
ClinGen gnomAD |
|
|
CA6571599 rs769076540 |
1129 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384895097 rs1378023882 |
1132 | S>Y | No |
ClinGen gnomAD |
|
|
CA384895113 rs1555226255 |
1133 | E>* | No |
ClinGen Ensembl |
|
|
CA384895138 rs1455370083 |
1134 | G>* | No |
ClinGen gnomAD |
|
|
CA384895141 rs1455370083 |
1134 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1136 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171704983 CA384895218 |
1137 | I>T | No |
ClinGen gnomAD |
|
|
CA384895262 rs1183713398 |
1139 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 1139 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384895259 rs1394459360 |
1139 | I>T | No |
ClinGen gnomAD |
|
|
rs1555226268 CA384895267 |
1140 | K>* | No |
ClinGen Ensembl |
|
|
rs1420223741 CA384895277 |
1140 | K>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1141 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780984594 CA6571600 |
1141 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555226271 CA384895314 |
1142 | E>* | No |
ClinGen Ensembl |
|
|
rs1555226272 CA384895349 |
1144 | E>* | No |
ClinGen Ensembl |
|
|
rs1324401898 CA384895376 |
1145 | E>* | No |
ClinGen gnomAD |
|
|
rs1439234909 CA384895401 |
1146 | V>I | No |
ClinGen gnomAD |
|
|
CA384895453 rs1555226277 |
1149 | E>* | No |
ClinGen Ensembl |
|
|
CA236319067 rs1050488287 |
1150 | Q>P | No |
ClinGen TOPMed |
|
|
CA384895509 rs1352068232 |
1151 | P>L | No |
ClinGen gnomAD |
|
|
rs1555226286 CA384895511 |
1152 | E>* | No |
ClinGen Ensembl |
|
|
rs1242926357 COSM694263 COSM694262 CA384895525 |
1152 | E>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1152 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555226291 CA384895589 |
1155 | L>* | No |
ClinGen Ensembl |
|
|
CA236319068 rs777129956 |
1156 | D>H | No |
ClinGen Ensembl |
|
|
rs1347876017 CA384895634 |
1157 | P>L | No |
ClinGen gnomAD |
|
|
CA384895692 rs760251864 |
1160 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384895734 rs1555226298 |
1163 | E>* | No |
ClinGen Ensembl |
|
|
rs1555226353 CA384895863 |
1165 | C>* | No |
ClinGen Ensembl |
|
|
CA384895854 rs1565918719 |
1165 | C>Y | No |
ClinGen Ensembl |
|
|
CA318264 RCV000189271 rs763817893 |
1168 | R>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6571627 rs201042588 COSM1362396 COSM1362397 |
1168 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1592152405 CA384895933 |
1169 | F>V | No |
ClinGen Ensembl |
|
|
CA384895966 rs1555226356 |
1170 | K>* | No |
ClinGen Ensembl |
|
|
CA384896040 rs1555226359 |
1171 | C>* | No |
ClinGen Ensembl |
|
|
CA384896055 rs1555226364 |
1172 | C>* | No |
ClinGen Ensembl |
|
|
CA384896116 rs1592152427 |
1175 | N>S | No |
ClinGen Ensembl |
|
|
rs369453843 CA384896176 |
1176 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148742419 CA384896186 |
1177 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384896221 rs1484695522 |
1178 | E>* | No |
ClinGen gnomAD |
|
|
CA384896217 rs1484695522 |
1178 | E>K | No |
ClinGen gnomAD |
|
|
CA384896254 rs765764478 CA6571633 |
1179 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384896331 rs1555226369 |
1182 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1183 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555226371 CA384896395 |
1184 | W>* | No |
ClinGen Ensembl |
|
|
rs1555226372 CA384896431 |
1185 | W>* | No |
ClinGen Ensembl |
|
|
CA6571634 rs374194753 |
1186 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA384896446 rs1473754516 |
1186 | I>V | No |
ClinGen TOPMed |
|
|
CA384896496 rs1430513260 |
1188 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1555226376 CA384896509 |
1189 | K>* | No |
ClinGen Ensembl |
|
|
rs778239289 CA6571636 |
1190 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs778239289 CA6571637 |
1190 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA236319529 rs1035485485 |
1190 | T>S | No |
ClinGen Ensembl |
|
|
CA384896606 rs1555226378 |
1191 | C>* | No |
ClinGen Ensembl |
|
|
CA384896736 rs1555226379 |
1196 | E>* | No |
ClinGen Ensembl |
|
|
rs1555226381 CA384896828 |
1199 | W>* | No |
ClinGen Ensembl |
|
|
rs1376750315 CA384896818 |
1199 | W>R | No |
ClinGen gnomAD |
|
|
rs1565918825 CA384896835 |
1200 | F>L | No |
ClinGen Ensembl |
|
|
CA384896853 rs1555226386 |
1201 | E>* | No |
ClinGen Ensembl |
|
|
rs200500291 CA236319562 |
1203 | F>S | No |
ClinGen 1000Genomes |
|
|
CA384898690 rs1555226823 |
1218 | E>* | No |
ClinGen Ensembl |
|
|
rs778889871 CA6571662 |
1222 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA384898858 rs1555226826 |
1225 | R>* | No |
ClinGen Ensembl |
|
|
CA384898874 rs1213920366 |
1226 | K>E | No |
ClinGen gnomAD |
|
|
rs747965516 CA6571663 |
1227 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA384898896 rs1592154853 |
1227 | T>P | No |
ClinGen Ensembl |
|
|
rs1195967527 CA384898910 |
1228 | I>V | No |
ClinGen gnomAD |
|
|
CA6571665 rs773069251 |
1229 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759641353 CA6571666 |
1230 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs759641353 CA384898939 |
1230 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1555226832 CA384898985 |
1233 | E>* | No |
ClinGen Ensembl |
|
|
CA384899083 rs1555226836 |
1237 | K>* | No |
ClinGen Ensembl |
|
|
CA6571668 rs369839970 |
1238 | V>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6571669 rs763162763 |
1240 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA318268 RCV000189273 rs796053213 |
1241 | Y>C | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs373513696 CA6571671 |
1245 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384899263 rs1555226838 |
1246 | E>* | No |
ClinGen Ensembl |
|
|
CA384899257 rs1555226838 |
1246 | E>K | No |
ClinGen Ensembl |
|
|
rs1327733187 CA384899274 |
1247 | M>L | No |
ClinGen gnomAD |
|
|
CA384899304 rs1555226841 |
1248 | L>* | No |
ClinGen Ensembl |
|
|
CA384899332 rs1555226843 |
1250 | K>* | No |
ClinGen Ensembl |
|
|
CA384899371 rs1555226844 |
1251 | W>* | No |
ClinGen Ensembl |
|
|
CA384899384 rs1368459456 |
1252 | T>A | No |
ClinGen gnomAD |
|
|
CA384899424 rs1199744177 |
1254 | Y>C | No |
ClinGen TOPMed |
|
|
CA384899513 rs1555226858 |
1258 | K>* | No |
ClinGen Ensembl |
|
|
rs1555226860 CA384899670 |
1264 | W>* | No |
ClinGen Ensembl |
|
|
rs1555226861 CA384899711 |
1265 | C>* | No |
ClinGen Ensembl |
|
|
rs1555226862 CA384899737 |
1266 | W>* | No |
ClinGen Ensembl |
|
|
CA384899814 rs1375638748 |
1270 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1169901750 CA384900775 |
1274 | V>F | No |
ClinGen TOPMed |
|
|
rs1169901750 CA384900773 |
1274 | V>I | No |
ClinGen TOPMed |
|
|
rs603280 CA236325770 |
1275 | S>F | No |
ClinGen gnomAD |
|
|
RCV000421069 CA16607354 rs1057524050 |
1277 | V>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1592159229 CA384900863 |
1278 | S>G | No |
ClinGen Ensembl |
|
|
CA384901052 rs1285980764 |
1285 | G>D | No |
ClinGen gnomAD |
|
|
rs1555227565 CA384901101 |
1287 | S>* | No |
ClinGen Ensembl |
|
|
rs1555227569 CA384901122 |
1288 | E>* | No |
ClinGen Ensembl |
|
|
CA384901249 rs1555227571 |
1293 | K>* | No |
ClinGen Ensembl |
|
|
rs1064796430 RCV000485786 CA16619561 |
1299 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1300 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555227575 CA384901408 |
1301 | L>* | No |
ClinGen Ensembl |
|
|
CA384901423 rs1555227578 |
1302 | R>* | No |
ClinGen Ensembl |
|
|
rs1555227579 CA384901493 |
1305 | R>* | No |
ClinGen Ensembl |
|
|
CA236325803 rs61618583 |
1305 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA236325805 rs60166516 |
1306 | A>T | No |
ClinGen Ensembl |
|
|
rs1555227589 CA384901580 |
1309 | R>* | No |
ClinGen Ensembl |
|
|
rs1555228307 CA384904402 |
1320 | L>* | No |
ClinGen Ensembl |
|
|
rs1330330991 CA384904476 |
1324 | I>V | No |
ClinGen gnomAD |
|
|
rs794727362 RCV000285972 CA242214 |
1329 | N>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555228314 CA384904737 |
1334 | C>* | No |
ClinGen Ensembl |
|
|
CA384904805 rs1192765886 |
1337 | F>L | No |
ClinGen TOPMed |
|
|
CA384904875 rs1555228322 |
1338 | W>* | No |
ClinGen Ensembl |
|
|
rs763590536 CA6571745 |
1344 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555228329 CA384905043 |
1345 | G>* | No |
ClinGen Ensembl |
|
|
CA6571746 rs751144124 |
1346 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA384905092 rs1555228332 |
1348 | L>* | No |
ClinGen Ensembl |
|
|
rs1555228335 CA384905135 |
1351 | G>* | No |
ClinGen Ensembl |
|
|
CA384905154 rs1555228336 |
1352 | K>* | No |
ClinGen Ensembl |
|
|
CA6571748 rs767611544 |
1354 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs757210769 CA6571747 |
1354 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA384905358 rs1188730100 |
1356 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA384905355 rs1194186086 |
1356 | C>F | No |
ClinGen TOPMed |
|
|
CA384905416 rs1555228341 |
1359 | E>* | No |
ClinGen Ensembl |
|
|
rs1555228345 CA384905499 |
1362 | E>* | No |
ClinGen Ensembl |
|
|
rs750239826 CA6571749 |
1363 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384905550 rs1229965891 |
1363 | I>T | No |
ClinGen TOPMed |
|
|
rs1555228350 CA384905561 |
1364 | R>* | No |
ClinGen Ensembl |
|
|
rs1555228352 CA384905627 |
1366 | E>* | No |
ClinGen Ensembl |
|
|
rs756032572 CA6571750 |
1367 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1555228354 CA384905690 |
1368 | E>* | No |
ClinGen Ensembl |
|
|
CA384905969 rs1555228357 |
1373 | K>* | No |
ClinGen Ensembl |
|
|
CA384906020 rs1555228360 |
1375 | E>* | No |
ClinGen Ensembl |
|
|
CA384906064 rs1555228363 |
1376 | C>* | No |
ClinGen Ensembl |
|
|
rs1555228367 CA384906080 |
1377 | E>* | No |
ClinGen Ensembl |
|
|
rs1555228368 CA384906099 |
1378 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1379 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel CA6571753 rs777863633 |
1380 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA384906234 rs886049585 |
1381 | E>* | No |
ClinGen Ensembl |
|
|
rs886049585 CA10642646 |
1381 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 1383 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384906399 rs1555228384 |
1386 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1555228387 CA384906431 |
1388 | R>* | No |
ClinGen Ensembl |
|
|
rs1555228388 CA384906461 |
1389 | W>* | No |
ClinGen Ensembl |
|
|
CA384906469 rs1555228390 |
1390 | K>* | No |
ClinGen Ensembl |
|
|
rs1555228392 CA384906536 |
1393 | K>* | No |
ClinGen Ensembl |
|
|
rs775720133 CA6571759 |
1401 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1401 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384906743 rs1555228395 |
1402 | G>* | No |
ClinGen Ensembl |
|
|
rs1311771806 CA384906747 |
1402 | G>E | No |
ClinGen gnomAD |
|
|
CA384906819 rs1555228400 |
1408 | Q>* | No |
ClinGen Ensembl |
|
|
COSM3398800 COSM3398799 CA384906831 rs1272462155 |
1409 | V>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1555228668 CA384907220 |
1413 | K>* | No |
ClinGen Ensembl |
|
|
rs1555228669 CA384907298 |
1415 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1422 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751631247 CA6571771 |
1423 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1057524240 CA16606317 RCV000423817 |
1426 | R>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555228681 CA384907646 |
1427 | K>* | No |
ClinGen Ensembl |
|
|
rs1255883984 CA384907928 |
1429 | D>G | No |
ClinGen TOPMed |
|
|
CA384907944 rs1555228752 |
1430 | E>* | No |
ClinGen Ensembl |
|
|
CA384908006 rs1555228757 |
1433 | K>* | No |
ClinGen Ensembl |
|
|
rs1555228760 CA384908052 |
1435 | E>* | No |
ClinGen Ensembl |
|
|
CA384908125 rs1472223706 |
1438 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1442 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1447 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555228769 CA384908589 |
1469 | Q>* | No |
ClinGen Ensembl |
|
|
rs1555228770 CA384908597 |
1470 | Q>* | No |
ClinGen Ensembl |
|
|
CA384908604 rs1057521767 |
1471 | K>* | No |
ClinGen Ensembl |
|
|
RCV000415856 rs1057519120 CA16043756 |
1471 | K>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1471 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555228778 CA384908611 |
1472 | K>* | No |
ClinGen Ensembl |
|
|
rs1555228785 CA384908619 |
1473 | K>* | No |
ClinGen Ensembl |
|
| rs770284737 | 1474 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384909008 rs796053216 |
1475 | G>* | No |
ClinGen Ensembl |
|
|
rs1555228905 CA384909019 |
1477 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1478 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000420671 rs796053218 CA16606654 |
1480 | F>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000189279 rs796053218 CA318280 |
1480 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA318282 rs1555228912 |
1481 | M>K | No |
ClinGen Ensembl |
|
|
CA384909059 rs879255652 |
1483 | E>* | No |
ClinGen Ensembl |
|
|
rs1555228916 CA384909067 |
1484 | E>* | No |
ClinGen Ensembl |
|
|
rs1555228917 CA384909075 |
1485 | Q>* | No |
ClinGen Ensembl |
|
|
CA384909083 rs1555228920 |
1486 | K>* | No |
ClinGen Ensembl |
|
|
rs1555228923 CA384909091 |
1487 | K>* | No |
ClinGen Ensembl |
|
|
CA384909136 rs1060501011 |
1493 | K>* | No |
ClinGen Ensembl |
|
|
rs1555228927 CA384909142 |
1494 | K>* | No |
ClinGen Ensembl |
|
|
CA6571820 rs769748325 |
1495 | L>R | No |
ClinGen ExAC |
|
|
CA6571822 rs762777153 |
1496 | G>A | No |
ClinGen ExAC |
|
|
rs762777153 CA6571823 |
1496 | G>V | No |
ClinGen ExAC |
|
|
rs76009743 CA6571824 |
1497 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1555228931 CA384909165 |
1498 | K>* | No |
ClinGen Ensembl |
|
|
CA384909173 rs1555228933 |
1499 | K>* | No |
ClinGen Ensembl |
|
|
RCV001310651 rs1938216429 |
1499 | K>R | No |
ClinVar dbSNP |
|
|
CA16603287 rs1057520149 RCV000441856 |
1501 | Q>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs879081789 CA236329882 |
1505 | P>A | No |
ClinGen Ensembl |
|
|
CA6571826 rs753971582 |
1506 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA384909230 rs1555228943 |
1508 | L>* | No |
ClinGen Ensembl |
|
|
rs1555229486 CA384878316 |
1510 | K>* | No |
ClinGen Ensembl |
|
|
rs1555229487 CA384878362 |
1513 | G>* | No |
ClinGen Ensembl |
|
|
CA6571837 rs370105734 |
1514 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1518 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384878472 rs1275907198 |
1518 | F>L | No |
ClinGen TOPMed |
|
|
CA384878543 rs1555229492 |
1521 | Q>* | No |
ClinGen Ensembl |
|
|
rs760758380 CA6571841 |
1526 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs774231634 CA6571840 |
1526 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA384878719 rs1372453254 |
1529 | M>I | No |
ClinGen TOPMed |
|
|
RCV000658648 rs1555229496 CA384878774 |
1532 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555229497 CA384878803 |
1533 | C>* | No |
ClinGen Ensembl |
|
|
rs796897857 CA236318833 |
1534 | L>F | No |
ClinGen Ensembl |
|
|
CA384878912 rs1555229499 |
1542 | E>* | No |
ClinGen Ensembl |
|
|
rs1020370285 CA384878958 |
1546 | Q>* | No |
ClinGen TOPMed |
|
|
rs1020370285 CA236318837 |
1546 | Q>E | No |
ClinGen TOPMed |
|
|
CA6571845 rs765823257 |
1546 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384878984 rs1555229508 |
1548 | K>* | No |
ClinGen Ensembl |
|
|
CA384879027 rs1555229514 |
1551 | E>* | No |
ClinGen Ensembl |
|
|
rs763563240 CA6571847 |
1556 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1566 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555229522 CA384879168 |
1567 | C>* | No |
ClinGen Ensembl |
|
|
CA384879165 rs1592167164 |
1567 | C>Y | No |
ClinGen Ensembl |
|
|
rs1555229524 CA384879171 |
1568 | E>* | No |
ClinGen Ensembl |
|
|
CA384879185 rs1555229530 |
1569 | C>* | No |
ClinGen Ensembl |
|
|
rs1253616121 CA384879186 |
1570 | V>M | No |
ClinGen gnomAD |
|
|
CA384879198 rs1555229535 |
1572 | K>* | No |
ClinGen Ensembl |
|
|
rs756839708 CA6571850 |
1572 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA384879220 rs1377093609 |
1574 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1393568107 CA384879274 |
1582 | T>I | No |
ClinGen gnomAD |
|
|
CA384879271 TCGA novel rs1592167229 |
1582 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1321044528 CA384879279 |
1583 | I>V | No |
ClinGen gnomAD |
|
|
CA384879295 rs1555229545 |
1585 | W>* | No |
ClinGen Ensembl |
|
|
CA384879299 rs1228638417 |
1586 | N>D | No |
ClinGen gnomAD |
|
|
CA6571854 rs778548854 |
1589 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs748012734 CA6571855 |
1590 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA384879384 rs1555229549 |
1599 | G>* | No |
ClinGen Ensembl |
|
|
CA384880306 rs1555230905 |
1607 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1608 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA236327317 rs79989131 |
1613 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 1616 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770166890 CA6571874 |
1617 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1619 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384880390 rs1555230919 |
1620 | R>* | No |
ClinGen Ensembl |
|
|
rs879255707 CA384880396 |
1621 | L>* | No |
ClinGen Ensembl |
|
|
rs867420193 CA236327337 |
1623 | R>C | No |
ClinGen Ensembl |
|
| TCGA novel | 1624 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16606656 rs879255708 RCV000442495 |
1625 | G>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10606625 rs886044328 |
1626 | R>H | No |
ClinGen Ensembl |
|
|
rs1131691414 CA384880426 RCV000493207 |
1627 | I>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA384880435 rs1555230928 |
1628 | L>* | No |
ClinGen Ensembl |
|
|
rs1555230928 RCV000520760 CA384880436 |
1628 | L>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6571877 rs376631260 |
1629 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
|
CA318288 rs1555230931 |
1630 | L>P | No |
ClinGen Ensembl |
|
|
rs1085307999 CA384880452 RCV000488921 |
1631 | I>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555230932 CA384880458 |
1632 | K>* | No |
ClinGen Ensembl |
|
|
CA236327392 rs996870199 COSM548623 COSM548622 |
1634 | A>T | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1555230935 CA384880477 |
1635 | K>* | No |
ClinGen Ensembl |
|
|
RCV000485665 rs1064794873 CA16619564 |
1638 | R>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1639 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384880520 rs1592174304 RCV001003603 |
1641 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs866453734 CA236327405 |
1643 | A>V | No |
ClinGen Ensembl |
|
|
rs1555230941 CA384880618 |
1648 | L>* | No |
ClinGen Ensembl |
|
|
CA318292 rs796053224 RCV000189285 |
1650 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1199052440 CA384882196 |
1662 | M>T | No |
ClinGen TOPMed |
|
|
rs1230461865 CA384882479 |
1674 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1674 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555230955 CA384882530 |
1677 | K>* | No |
ClinGen Ensembl |
|
|
CA384882568 rs533725421 |
1678 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384882585 rs796053225 |
1679 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 1682 | I>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200104402 CA236327459 |
1687 | N>S | No |
ClinGen 1000Genomes |
|
|
COSM1287781 COSM1287780 CA384882841 rs1555230962 |
1689 | E>* | autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1232210116 CA384882950 |
1692 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 1692 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1064796263 RCV000481135 |
1693 | N>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 1694 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1694 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA236327464 rs201259321 |
1695 | M>V | No |
ClinGen 1000Genomes |
|
|
rs1555230968 CA384883152 |
1697 | C>* | No |
ClinGen Ensembl |
|
|
CA384883269 rs1555230971 |
1700 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1700 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384883563 rs1555230974 |
1707 | W>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1713 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384883901 rs1451912147 |
1717 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780491922 CA6571892 |
1717 | R>H | No |
ClinGen ExAC |
|
|
rs780491922 CA384883933 |
1717 | R>L | No |
ClinGen ExAC |
|
|
rs768724376 CA6571894 |
1720 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA384884060 rs1555230976 |
1721 | C>* | No |
ClinGen Ensembl |
|
|
rs1031935135 CA384884111 |
1723 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1031935135 CA384884126 |
1723 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA384884156 rs1176149836 |
1724 | D>H | No |
ClinGen gnomAD |
|
|
CA384884172 rs1176149836 RCV000521572 |
1724 | D>Y | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA384884202 rs1555230979 |
1725 | K>* | No |
ClinGen Ensembl |
|
|
CA6571896 rs373600118 |
1730 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384884439 rs1555230982 |
1733 | K>* | No |
ClinGen Ensembl |
|
|
rs1555230985 CA384884464 |
1734 | G>* | No |
ClinGen Ensembl |
|
|
CA384884540 rs1555230992 |
1736 | C>* | No |
ClinGen Ensembl |
|
|
CA6571898 rs367734848 |
1736 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6571899 rs761093069 |
1738 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs776285877 CA6571901 |
1743 | I>V | No |
ClinGen ExAC |
|
| TCGA novel | 1758 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA236327543 rs200203078 |
1764 | I>T | No |
ClinGen 1000Genomes |
|
|
CA384885220 rs1555231020 |
1767 | E>* | No |
ClinGen Ensembl |
|
|
CA384885302 rs1555231021 |
1774 | E>* | No |
ClinGen Ensembl |
|
|
CA384885315 rs1555231022 |
1775 | E>* | No |
ClinGen Ensembl |
|
|
rs781149870 CA6571909 |
1777 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1779 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1426603875 CA384885394 |
1779 | P>L | No |
ClinGen gnomAD |
|
|
CA384885437 rs1555231024 |
1782 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1783 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555231028 CA384885583 |
1790 | E>* | No |
ClinGen Ensembl |
|
|
CA6571911 rs755177287 |
1791 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA384885607 rs1409531686 |
1791 | I>T | No |
ClinGen TOPMed |
|
|
CA384885647 rs1555231031 |
1792 | W>* | No |
ClinGen Ensembl |
|
|
rs1555231032 CA384885663 |
1793 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1794 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555231033 CA384885697 |
1794 | K>* | No |
ClinGen Ensembl |
|
|
rs772562118 CA6571914 |
1797 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384885949 rs1555231041 |
1804 | E>* | No |
ClinGen Ensembl |
|
|
CA236327630 rs765354280 |
1804 | E>D | No |
ClinGen Ensembl |
|
|
rs1555231042 CA384886025 |
1806 | C>* | No |
ClinGen Ensembl |
|
|
rs1207848408 CA384886002 |
1806 | C>R | No |
ClinGen TOPMed |
|
|
RCV000189287 CA318296 rs796053226 |
1806 | C>Y | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1555231043 CA384886034 |
1807 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1808 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1809 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555231044 CA384886197 |
1815 | L>* | No |
ClinGen Ensembl |
|
|
CA384886232 rs1555231045 |
1816 | E>* | No |
ClinGen Ensembl |
|
|
rs1365494504 CA384886324 |
1818 | P>L | No |
ClinGen gnomAD |
|
|
CA384886529 rs759182622 |
1823 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA6571919 rs759182622 |
1823 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1555231051 CA384886672 |
1828 | E>* | No |
ClinGen Ensembl |
|
|
CA6571923 rs751487206 |
1829 | L>F | No |
ClinGen ExAC |
|
|
rs202187894 CA236327668 |
1836 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6571928 rs779068291 |
1841 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384887253 rs1555231060 |
1844 | C>* | No |
ClinGen Ensembl |
|
|
CA384887272 rs1555231063 |
1845 | L>* | No |
ClinGen Ensembl |
|
|
rs1334207422 CA384887399 |
1849 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 1850 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384887530 rs1555231070 |
1853 | K>* | No |
ClinGen Ensembl |
|
|
RCV000678846 rs1410900258 CA384887546 |
1853 | K>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs929319837 CA236327685 |
1854 | R>Q | No |
ClinGen Ensembl |
|
|
CA384887603 rs1555231074 |
1857 | G>* | No |
ClinGen Ensembl |
|
|
rs1938722293 RCV001091248 |
1859 | S>G | No |
ClinVar dbSNP |
|
|
CA384887740 rs1457529194 |
1860 | G>R | No |
ClinGen gnomAD |
|
|
rs1555231089 CA384887764 |
1861 | E>* | No |
ClinGen Ensembl |
|
|
CA384887770 rs1352614116 |
1861 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs866794022 CA236327721 |
1863 | D>N | No |
ClinGen Ensembl |
|
|
rs1288157626 RCV001310653 |
1865 | L>V | No |
ClinVar dbSNP |
|
|
rs368449473 CA384887924 |
1867 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1555231117 CA384888003 |
1870 | E>* | No |
ClinGen Ensembl |
|
|
CA384888037 rs1555231119 |
1871 | E>* | No |
ClinGen Ensembl |
|
|
rs1230372504 CA384888049 |
1871 | E>D | No |
ClinGen gnomAD |
|
|
CA384888065 RCV000489233 rs796053228 |
1872 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA384888088 rs1592174912 |
1873 | F>V | No |
ClinGen Ensembl |
|
|
rs781602116 CA6571933 |
1874 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM940595 COSM940594 CA384888142 rs1274667201 |
1875 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs376389439 CA236327758 |
1875 | A>V | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 1876 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384888257 rs1555231128 |
1880 | K>* | No |
ClinGen Ensembl |
|
|
CA384888296 rs1232104463 |
1883 | Y>H | No |
ClinGen gnomAD |
|
|
CA384888324 rs147578087 |
1884 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM940596 COSM940597 CA6571936 rs147578087 |
1884 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs748964384 COSM86453 CA6571937 |
1888 | T>S | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 1890 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774029281 CA6571939 |
1891 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1282762156 CA384888445 |
1892 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1555231137 CA384888531 |
1895 | E>* | No |
ClinGen Ensembl |
|
|
rs1555231141 CA384888553 |
1896 | E>* | No |
ClinGen Ensembl |
|
|
rs761793809 CA6571940 |
1896 | E>G | No |
ClinGen ExAC |
|
|
rs1064796694 CA16619567 RCV000482457 |
1900 | V>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1209537535 CA384888784 |
1905 | A>S | No |
ClinGen TOPMed |
|
|
rs1442612004 CA384888867 |
1907 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6571943 rs760444517 |
1907 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752848031 CA384888913 |
1908 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752848031 CA6571945 |
1908 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758646467 CA6571946 |
1909 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA384888983 rs1555231151 |
1910 | L>* | No |
ClinGen Ensembl |
|
|
CA384889029 rs1319484809 |
1913 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1392120633 CA384889027 |
1913 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1390613897 CA384889104 |
1916 | I>M | No |
ClinGen TOPMed |
|
|
CA384889132 rs1555231159 |
1917 | C>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1917 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384889144 rs1555231160 |
1918 | K>* | No |
ClinGen Ensembl |
|
|
rs1555231162 CA384889171 |
1919 | K>* | No |
ClinGen Ensembl |
|
| TCGA novel | 1922 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555231163 CA384889296 |
1924 | K>* | No |
ClinGen Ensembl |
|
|
rs1555231165 CA384889340 |
1926 | E>* | No |
ClinGen Ensembl |
|
|
CA384889371 rs1358879236 |
1927 | N>S | No |
ClinGen gnomAD |
|
|
rs1555231166 CA384889394 |
1928 | G>* | No |
ClinGen Ensembl |
|
|
rs768445951 CA6571954 |
1930 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371766742 CA6571956 COSM190849 |
1932 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1555231173 CA384889501 |
1933 | E>* | No |
ClinGen Ensembl |
|
|
rs1555231174 CA384889515 |
1934 | K>* | No |
ClinGen Ensembl |
|
|
CA384889533 rs1555231175 |
1935 | K>* | No |
ClinGen Ensembl |
|
|
rs1555231176 CA384889560 |
1936 | E>* | No |
ClinGen Ensembl |
|
|
CA6571957 rs772964567 |
1938 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA236327893 rs1016000227 |
1942 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6571959 rs766045454 |
1945 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1479131099 CA384889887 |
1949 | S>N | No |
ClinGen gnomAD |
|
|
CA384889942 rs1555231182 |
1952 | K>* | No |
ClinGen Ensembl |
|
|
rs1555231183 CA384889991 |
1954 | E>* | No |
ClinGen Ensembl |
|
|
CA384890027 rs1555231184 |
1955 | K>* | No |
ClinGen Ensembl |
|
|
rs1555231187 CA384890055 |
1956 | E>* | No |
ClinGen Ensembl |
|
|
CA384890092 rs1296188589 |
1957 | K>* | No |
ClinGen TOPMed |
|
|
rs1296188589 CA384890086 |
1957 | K>Q | No |
ClinGen TOPMed |
|
|
CA384890145 rs1555231189 |
1958 | Q>* | No |
ClinGen Ensembl |
|
|
rs369346315 CA6571964 |
1960 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1555231195 CA384890253 |
1962 | E>* | No |
ClinGen Ensembl |
|
|
CA384890255 rs1465826685 |
1962 | E>V | No |
ClinGen gnomAD |
|
|
CA384890269 rs1057518294 |
1963 | E>* | No |
ClinGen Ensembl |
|
|
RCV000413396 rs1057518294 CA16042906 COSM1512245 COSM1512244 |
1963 | E>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 1963 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555231202 RCV000627622 |
1964 | G>missing | No |
ClinVar dbSNP |
|
|
rs756678417 CA384890296 |
1964 | G>* | No |
ClinGen ExAC TOPMed |
|
|
CA384890324 rs954461792 |
1965 | R>* | No |
ClinGen Ensembl |
|
|
CA236328002 rs954461792 |
1965 | R>G | No |
ClinGen Ensembl |
|
|
rs188821990 CA6571967 |
1965 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA384890353 rs1317060716 |
1965 | R>S | No |
ClinGen gnomAD |
|
|
CA6571968 rs754304142 |
1966 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA384890401 rs1555231206 |
1967 | E>* | No |
ClinGen Ensembl |
|
|
rs1555231207 CA384890430 |
1968 | R>* | No |
ClinGen Ensembl |
|
|
rs754672110 CA6571969 |
1968 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1166903691 CA384890449 |
1969 | A>P | No |
ClinGen TOPMed |
|
|
CA384890481 rs1555231208 |
1970 | K>* | No |
ClinGen Ensembl |
|
|
CA384890512 rs1555231209 |
1971 | R>* | No |
ClinGen Ensembl |
|
|
rs1555231210 CA384890547 |
1972 | Q>* | No |
ClinGen Ensembl |
|
|
CA384890561 rs1555231214 |
1973 | K>* | No |
ClinGen Ensembl |
|
|
CA384890590 rs1555231215 |
1974 | E>* | No |
ClinGen Ensembl |
|
|
rs1555231216 CA384890634 |
1976 | R>* | No |
ClinGen Ensembl |
|
|
rs1555231217 CA384890666 |
1977 | E>* | No |
ClinGen Ensembl |
|
|
rs1272779276 CA384890711 |
1978 | S>F | No |
ClinGen gnomAD |
|
|
rs558667581 CA236328014 |
1979 | K>N | No |
ClinGen Ensembl |
|
|
rs778764514 CA6571970 |
1980 | C>* | No |
ClinGen ExAC |
|
|
rs1322359113 CA384890758 |
1980 | C>S | No |
ClinGen gnomAD |
4 associated diseases with Q9UQD0
[MIM: 614306]: Cognitive impairment with or without cerebellar ataxia (CIAT)
A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes. {ECO:0000269|PubMed:16236810}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 614558]: Developmental and epileptic encephalopathy 13 (DEE13)
A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. DEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy. {ECO:0000269|PubMed:22365152, ECO:0000269|PubMed:23708187, ECO:0000269|PubMed:24352161, ECO:0000269|PubMed:24874546, ECO:0000269|PubMed:24888894, ECO:0000269|PubMed:25239001, ECO:0000269|PubMed:25568300, ECO:0000269|PubMed:25725044, ECO:0000269|PubMed:25785782, ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26900580, ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:27210545, ECO:0000269|PubMed:27864847, ECO:0000269|PubMed:28923014}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 617080]: Seizures, benign familial infantile, 5 (BFIS5)
A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS5 inheritance is autosomal dominant. {ECO:0000269|PubMed:26677014, ECO:0000269|PubMed:27210545}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618364]: Myoclonus, familial, 2 (MYOCL2)
An autosomal dominant neurologic disorder characterized by upper limb isolated myoclonus without seizures or cognitive impairment. MYOCL2 is a non-progressive disease with onset in the first decade of life. {ECO:0000269|PubMed:29726066}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes. {ECO:0000269|PubMed:16236810}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. DEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy. {ECO:0000269|PubMed:22365152, ECO:0000269|PubMed:23708187, ECO:0000269|PubMed:24352161, ECO:0000269|PubMed:24874546, ECO:0000269|PubMed:24888894, ECO:0000269|PubMed:25239001, ECO:0000269|PubMed:25568300, ECO:0000269|PubMed:25725044, ECO:0000269|PubMed:25785782, ECO:0000269|PubMed:25818041, ECO:0000269|PubMed:26900580, ECO:0000269|PubMed:26993267, ECO:0000269|PubMed:27210545, ECO:0000269|PubMed:27864847, ECO:0000269|PubMed:28923014}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS5 inheritance is autosomal dominant. {ECO:0000269|PubMed:26677014, ECO:0000269|PubMed:27210545}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal dominant neurologic disorder characterized by upper limb isolated myoclonus without seizures or cognitive impairment. MYOCL2 is a non-progressive disease with onset in the first decade of life. {ECO:0000269|PubMed:29726066}. Note=The disease may be caused by variants affecting the gene represented in this entry.
8 regional properties for Q9UQD0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| binding_site | IQ motif, EF-hand binding site | 1894 - 1924 | IPR000048 |
| domain | Ion transport domain | 131 - 421 | IPR005821-1 |
| domain | Ion transport domain | 754 - 981 | IPR005821-2 |
| domain | Ion transport domain | 1197 - 1472 | IPR005821-3 |
| domain | Ion transport domain | 1522 - 1776 | IPR005821-4 |
| domain | Sodium ion transport-associated domain | 991 - 1192 | IPR010526 |
| domain | Voltage-gated Na+ ion channel, cytoplasmic domain | 546 - 702 | IPR024583 |
| domain | Voltage-gated sodium channel alpha subunit, inactivation gate | 1465 - 1517 | IPR044564 |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| axon initial segment | Portion of the axon proximal to the neuronal cell body, at the level of the axon hillock. The action potentials that propagate along the axon are generated at the level of this initial segment. |
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| integral component of membrane | The component of a 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. |
| node of Ranvier | An axon part that is a gap in the myelin where voltage-gated sodium channels cluster and saltatory conduction is executed. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| voltage-gated sodium channel complex | A sodium channel in a cell membrane whose opening is governed by the membrane potential. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| voltage-gated ion channel activity | Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
| voltage-gated sodium channel activity | Enables the transmembrane transfer of a sodium 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. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| membrane depolarization during action potential | The process in which membrane potential changes in the depolarizing direction from the negative resting potential towards the positive membrane potential that will be the peak of the action potential. |
| myelination | The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| neuronal action potential | An action potential that occurs in a neuron. |
| peripheral nervous system development | The process whose specific outcome is the progression of the peripheral nervous system over time, from its formation to the mature structure. The peripheral nervous system is one of the two major divisions of the nervous system. Nerves in the PNS connect the central nervous system (CNS) with sensory organs, other organs, muscles, blood vessels and glands. |
| 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. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| sodium ion transport | The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6YLX9 | TPC1 | Two pore calcium channel protein 1 | Triticum aestivum (Wheat) | PR |
| P91645 | MED20 | Voltage-dependent calcium channel type A subunit alpha-1 | Drosophila melanogaster (Fruit fly) | PR |
| Q86XQ3 | CATSPER3 | Cation channel sperm-associated protein 3 | Homo sapiens (Human) | PR |
| Q96P56 | CATSPER2 | Cation channel sperm-associated protein 2 | Homo sapiens (Human) | PR |
| Q9Y5Y9 | SCN10A | Sodium channel protein type 10 subunit alpha | Homo sapiens (Human) | PR |
| Q14524 | SCN5A | Sodium channel protein type 5 subunit alpha | Homo sapiens (Human) | PR |
| A2ARP9 | Catsper2 | Cation channel sperm-associated protein 2 | Mus musculus (Mouse) | PR |
| Q6QIY3 | Scn10a | Sodium channel protein type 10 subunit alpha | Mus musculus (Mouse) | PR |
| Q62205 | Scn9a | Sodium channel protein type 9 subunit alpha | Mus musculus (Mouse) | PR |
| Q9JJV9 | Scn5a | Sodium channel protein type 5 subunit alpha | Mus musculus (Mouse) | PR |
| Q9WTU3 | Scn8a | Sodium channel protein type 8 subunit alpha | Mus musculus (Mouse) | PR |
| O88457 | Scn11a | Sodium channel protein type 11 subunit alpha | Rattus norvegicus (Rat) | PR |
| Q62968 | Scn10a | Sodium channel protein type 10 subunit alpha | Rattus norvegicus (Rat) | PR |
| O88420 | Scn8a | Sodium channel protein type 8 subunit alpha | Rattus norvegicus (Rat) | PR |
| Q5QM84 | TPC1 | Two pore calcium channel protein 1 | Oryza sativa subsp japonica (Rice) | PR |
| Q94KI8 | TPC1 | Two pore calcium channel protein 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAARLLAPPG | PDSFKPFTPE | SLANIERRIA | ESKLKKPPKA | DGSHREDDED | SKPKPNSDLE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AGKSLPFIYG | DIPQGLVAVP | LEDFDPYYLT | QKTFVVLNRG | KTLFRFSATP | ALYILSPFNL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IRRIAIKILI | HSVFSMIIMC | TILTNCVFMT | FSNPPDWSKN | VEYTFTGIYT | FESLVKIIAR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GFCIDGFTFL | RDPWNWLDFS | VIMMAYITEF | VNLGNVSALR | TFRVLRALKT | ISVIPGLKTI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VGALIQSVKK | LSDVMILTVF | CLSVFALIGL | QLFMGNLRNK | CVVWPINFNE | SYLENGTKGF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DWEEYINNKT | NFYTVPGMLE | PLLCGNSSDA | GQCPEGYQCM | KAGRNPNYGY | TSFDTFSWAF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LALFRLMTQD | YWENLYQLTL | RAAGKTYMIF | FVLVIFVGSF | YLVNLILAVV | AMAYEEQNQA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TLEEAEQKEA | EFKAMLEQLK | KQQEEAQAAA | MATSAGTVSE | DAIEEEGEEG | GGSPRSSSEI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SKLSSKSAKE | RRNRRKKRKQ | KELSEGEEKG | DPEKVFKSES | EDGMRRKAFR | LPDNRIGRKF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SIMNQSLLSI | PGSPFLSRHN | SKSSIFSFRG | PGRFRDPGSE | NEFADDEHST | VEESEGRRDS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LFIPIRARER | RSSYSGYSGY | SQGSRSSRIF | PSLRRSVKRN | STVDCNGVVS | LIGGPGSHIG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GRLLPEATTE | VEIKKKGPGS | LLVSMDQLAS | YGRKDRINSI | MSVVTNTLVE | ELEESQRKCP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PCWYKFANTF | LIWECHPYWI | KLKEIVNLIV | MDPFVDLAIT | ICIVLNTLFM | AMEHHPMTPQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FEHVLAVGNL | VFTGIFTAEM | FLKLIAMDPY | YYFQEGWNIF | DGFIVSLSLM | ELSLADVEGL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SVLRSFRLLR | VFKLAKSWPT | LNMLIKIIGN | SVGALGNLTL | VLAIIVFIFA | VVGMQLFGKS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| YKECVCKINQ | DCELPRWHMH | DFFHSFLIVF | RVLCGEWIET | MWDCMEVAGQ | AMCLIVFMMV |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| MVIGNLVVLN | LFLALLLSSF | SADNLAATDD | DGEMNNLQIS | VIRIKKGVAW | TKLKVHAFMQ |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| AHFKQREADE | VKPLDELYEK | KANCIANHTG | ADIHRNGDFQ | KNGNGTTSGI | GSSVEKYIID |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| EDHMSFINNP | NLTVRVPIAV | GESDFENLNT | EDVSSESDPE | GSKDKLDDTS | SSEGSTIDIK |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| PEVEEVPVEQ | PEEYLDPDAC | FTEGCVQRFK | CCQVNIEEGL | GKSWWILRKT | CFLIVEHNWF |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| ETFIIFMILL | SSGALAFEDI | YIEQRKTIRT | ILEYADKVFT | YIFILEMLLK | WTAYGFVKFF |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| TNAWCWLDFL | IVAVSLVSLI | ANALGYSELG | AIKSLRTLRA | LRPLRALSRF | EGMRVVVNAL |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| VGAIPSIMNV | LLVCLIFWLI | FSIMGVNLFA | GKYHYCFNET | SEIRFEIEDV | NNKTECEKLM |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| EGNNTEIRWK | NVKINFDNVG | AGYLALLQVA | TFKGWMDIMY | AAVDSRKPDE | QPKYEDNIYM |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| YIYFVIFIIF | GSFFTLNLFI | GVIIDNFNQQ | KKKFGGQDIF | MTEEQKKYYN | AMKKLGSKKP |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| QKPIPRPLNK | IQGIVFDFVT | QQAFDIVIMM | LICLNMVTMM | VETDTQSKQM | ENILYWINLV |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| FVIFFTCECV | LKMFALRHYY | FTIGWNIFDF | VVVILSIVGM | FLADIIEKYF | VSPTLFRVIR |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| LARIGRILRL | IKGAKGIRTL | LFALMMSLPA | LFNIGLLLFL | VMFIFSIFGM | SNFAYVKHEA |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| GIDDMFNFET | FGNSMICLFQ | ITTSAGWDGL | LLPILNRPPD | CSLDKEHPGS | GFKGDCGNPS |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| VGIFFFVSYI | IISFLIVVNM | YIAIILENFS | VATEESADPL | SEDDFETFYE | IWEKFDPDAT |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| QFIEYCKLAD | FADALEHPLR | VPKPNTIELI | AMDLPMVSGD | RIHCLDILFA | FTKRVLGDSG |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| ELDILRQQME | ERFVASNPSK | VSYEPITTTL | RRKQEEVSAV | VLQRAYRGHL | ARRGFICKKT |
| 1930 | 1940 | 1950 | 1960 | 1970 | |
| TSNKLENGGT | HREKKESTPS | TASLPSYDSV | TKPEKEKQQR | AEEGRRERAK | RQKEVRESKC |