Q0ZGT2
PR
Gene name |
NEXN |
Protein name |
Nexilin |
Names |
F-actin-binding protein, Nelin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:91624 |
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
1 structures for Q0ZGT2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q0ZGT2-F1 | Predicted | AlphaFoldDB |
658 variants for Q0ZGT2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs749167943 RCV002531762 RCV000619501 |
1 | M>L | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301572 RCV000617761 rs760463744 |
3 | D>missing | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036009 rs199981645 CA918557 |
19 | P>S | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1557973780 RCV000768795 CA340885055 |
20 | K>N | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000519442 CA340885084 rs1553236590 RCV001231383 |
22 | Y>N | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000765399 CA10576434 rs876657931 RCV000220183 |
29 | G>V | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340885637 TCGA novel RCV000796675 rs946271161 |
45 | R>I | Variant assessed as Somatic; impact. Dilated cardiomyopathy 1CC [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV001044221 CA918570 rs373778361 RCV000621991 RCV000994027 |
53 | E>K | Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy 1CC [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000768796 RCV002536604 rs765396527 |
56 | R>missing | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001313334 RCV003166785 rs1435048653 |
57 | R>missing | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761888910 RCV001321324 RCV002412032 CA918574 |
59 | E>K | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001328615 RCV001773660 rs1649088164 |
60 | Q>* | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000647282 RCV000183648 RCV002444744 RCV001195577 RCV000678728 rs367871780 CA335385 |
81 | D>V | Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy 1CC [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs199720912 RCV001231760 CA918598 |
82 | D>H | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs199720912 RCV001323023 |
82 | D>N | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
CA918600 RCV000706477 RCV002245616 RCV002440547 rs547319928 |
84 | E>K | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000768799 rs1557974419 CA340886298 COSM276314 |
86 | V>A | Cardiomyopathy large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000525133 rs1256690084 CA340886354 |
93 | A>P | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2764942 RCV001301670 |
112 | Q>R | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001762125 rs397517857 RCV001170496 RCV000041176 |
114 | Q>missing | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003147501 RCV002358414 RCV001312369 RCV003147502 rs372745590 RCV000519143 CA918626 |
124 | E>K | Hypertrophic cardiomyopathy 20 Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs773500471 RCV001170497 CA340886583 |
125 | R>* | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001762462 rs771113424 RCV002354610 RCV000704647 CA918629 RCV000220615 |
127 | R>C | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001858780 RCV003160124 rs776891268 RCV000994028 RCV001799019 CA918630 COSM536311 |
127 | R>H | lung Variant assessed as Somatic; 0.0 impact. Cardiomyopathy large_intestine Dilated cardiomyopathy 1CC Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000023984 CA129603 VAR_065477 rs387907079 |
131 | Q>E | Hypertrophic cardiomyopathy 20 CMH20; affects interaction with ACTA1 and F-actin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs397517858 CA10587438 RCV000245242 RCV000817176 |
131 | Q>P | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001528610 rs397517858 CA142158 RCV001240745 RCV000041178 |
131 | Q>R | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001298985 CA24705475 RCV000852419 rs536537549 |
141 | R>C | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA340887162 rs767335232 RCV000820229 |
144 | A>V | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002336468 RCV000183676 rs794729088 RCV001852365 |
154 | N>missing | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1649751729 RCV001256886 |
154 | N>D | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000647279 CA340872037 rs1553238441 RCV002343327 |
164 | E>G | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000183651 RCV001701784 CA335391 RCV000768801 rs372065024 RCV000619570 RCV000542710 |
171 | I>T | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000768802 rs1557981610 CA340872302 |
179 | Y>H | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA918680 RCV002345884 RCV000818953 RCV001772130 rs764640427 |
181 | T>I | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001582631 RCV000155781 RCV000768803 CA183471 RCV002354374 RCV000647286 RCV002221204 rs369486891 |
196 | R>C | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Primary dilated cardiomyopathy Dilated cardiomyopathy 1CC [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201447781 RCV000766514 CA142161 RCV000041179 RCV000473581 RCV000769815 |
205 | E>K | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002531861 rs370428679 RCV000620877 RCV001591393 CA918688 |
206 | E>K | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs570946423 RCV000620155 RCV001798928 CA918690 RCV001700254 RCV001240728 |
207 | D>G | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
COSM912314 RCV000620700 rs1433269866 RCV001054082 CA340872898 |
209 | R>I | Variant assessed as Somatic; impact. endometrium Dilated cardiomyopathy 1CC [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs745502254 CA918691 RCV001262354 |
211 | R>S | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001859448 RCV000246666 rs769549962 CA918692 |
212 | Y>N | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA340873010 RCV000690402 rs1557981819 |
215 | Q>E | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10611646 rs886046534 RCV000477809 |
224 | C>Y | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001059582 CA918700 RCV000498618 rs756273801 |
227 | L>S | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000041182 RCV000860033 rs1166698 RCV000245136 CA142168 VAR_049963 |
245 | G>R | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1649881678 RCV001205924 |
250 | T>S | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697282 RCV003163213 rs554389574 CA24678731 |
251 | F>C | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
CA918728 RCV000647278 rs748921688 |
256 | R>Q | Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy 1CC [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1308264799 CA340874065 RCV001351379 |
258 | R>G | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000852420 CA340874078 rs1278436075 |
258 | R>S | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001223312 RCV000620205 CA24678790 rs1002648603 |
262 | R>* | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001304527 rs761106568 CA918734 |
265 | Q>K | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002418931 rs1649888139 RCV001307029 |
265 | Q>P | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000735692 rs771262904 RCV002535432 CA918735 |
267 | E>* | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000247492 rs757571525 RCV001566404 RCV002503955 CA10587439 |
273 | R>C | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002424490 RCV000647285 rs765385072 CA918738 RCV001798950 |
273 | R>H | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1649891198 RCV001093542 |
276 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA129605 RCV001719699 RCV000769818 RCV000460527 RCV000143936 RCV000023985 rs146245480 VAR_065478 RCV000041184 |
279 | R>C | Hypertrophic cardiomyopathy 20 Cardiomyopathy Primary familial hypertrophic cardiomyopathy Dilated cardiomyopathy 1CC CMH20; the mutant protein accumulates in the cytoplasm but binding to ACTA1 is not altered [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002478770 rs750349053 RCV003165544 RCV000214249 CA918742 |
279 | R>H | Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy 1CC [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001553325 CA918744 rs374691663 RCV001061139 |
283 | E>V | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV002470986 CA24678914 rs910594117 RCV000799051 |
286 | R>Q | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000623726 CA335397 RCV000456476 RCV000252316 RCV001170498 rs199917913 RCV001704885 |
286 | R>W | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001328616 rs1402442744 RCV002447385 CA340874710 |
287 | Q>* | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs371666396 RCV002494571 CA918746 RCV000217251 RCV002444863 |
288 | M>I | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA918771 RCV000541851 rs770120245 |
291 | E>K | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001170726 RCV001852366 rs373377525 RCV000183684 CA335460 |
292 | D>N | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV001314726 rs1650107233 |
297 | D>H | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001698953 RCV000308250 RCV000456968 RCV000246908 CA142175 RCV000041186 RCV001798222 rs200753280 |
298 | T>R | Cardiomyopathy Hypertrophic cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000465558 RCV002374780 CA918775 RCV001591092 rs373878384 COSM215735 |
301 | I>N | central_nervous_system Dilated cardiomyopathy 1CC [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001798970 RCV002370005 CA918776 rs767740199 RCV001368108 RCV000756422 |
302 | F>L | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001213123 rs1650108809 |
304 | G>R | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
CA918781 RCV002570613 rs758055856 RCV003150414 RCV002375314 RCV001256883 |
306 | R>H | Cardiomyopathy Variant assessed as Somatic; 4.639e-05 impact. Dilated cardiomyopathy 1CC Hypertrophic cardiomyopathy 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA183272 RCV000155677 RCV000647288 RCV001697084 RCV001170727 rs559464457 RCV002372017 |
317 | M>L | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001316118 rs915318065 |
321 | R>missing | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
rs533331740 RCV002223302 CA918786 RCV001334547 RCV002547327 |
331 | E>* | Hypertrophic cardiomyopathy 20 Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA142178 RCV000231450 RCV000041187 rs201763096 RCV000769821 RCV001528784 RCV001781365 RCV000618713 |
332 | E>A | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001699134 RCV002381502 RCV000156581 rs727505124 RCV000769820 RCV002484953 |
332 | E>missing | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000183655 CA335400 RCV002321736 rs749553777 RCV001852363 |
337 | I>T | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002397627 RCV000804003 rs898035834 CA24681195 |
349 | R>T | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA24684063 rs1040085867 RCV000820077 RCV002397716 |
352 | V>A | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA340876521 rs1553239999 RCV000584821 |
355 | D>H | Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1257882038 CA340876539 RCV001350030 |
356 | D>H | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001575281 rs755252743 RCV003166585 RCV001366799 CA918801 RCV001256885 |
358 | P>L | Dilated cardiomyopathy 1CC Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001340755 CA24684103 rs998636692 |
358 | P>S | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002418755 rs748351352 CA918803 RCV001220070 |
363 | T>R | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001253104 RCV000041157 RCV000471176 RCV000766516 CA142104 rs200067011 RCV000183659 |
371 | P>L | Hypertrophic cardiomyopathy 20 Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1223883098 CA340876717 RCV001306463 |
371 | P>T | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1571150562 RCV000845479 RCV002536168 CA340876741 |
375 | E>* | Dilated cardiomyopathy 1CC Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA918810 COSM196741 RCV002327584 rs200106758 RCV002224036 RCV001241310 |
391 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine Dilated cardiomyopathy 1CC [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs750076188 RCV001196151 RCV001357462 RCV001375648 CA918812 RCV002327090 RCV000820993 RCV000222720 |
392 | R>* | Variant assessed as Somatic; 0.0 impact. Hypertrophic cardiomyopathy Dilated cardiomyopathy 1CC [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs971313210 RCV001093571 CA24684248 |
392 | R>Q | Variant assessed as Somatic; impact. Primary dilated cardiomyopathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002288842 RCV002338685 CA918816 RCV000769823 rs201806320 RCV000215086 RCV001853472 |
397 | R>Q | Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Dilated cardiomyopathy 1CC [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002361182 RCV001896505 rs794729083 CA335409 |
408 | F>L | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1557988499 CA340877204 RCV000778992 |
410 | Q>* | NEXN-Related Disorders [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001798706 CA918827 rs768693715 RCV003165543 RCV000219409 |
412 | R>G | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1650473441 RCV001093572 |
413 | Q>R | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002388113 CA340877266 COSM1627198 rs1172366391 RCV000647283 |
415 | M>T | liver Dilated cardiomyopathy 1CC [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV001170728 RCV001256887 RCV000529099 CA335412 RCV000183662 rs200442502 RCV002372124 |
424 | T>I | Cardiomyopathy Dilated cardiomyopathy 1CC Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747902604 RCV001317526 |
435 | I>missing | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553240600 RCV000647281 |
450 | S>missing | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397517844 RCV001215702 CA142107 RCV000041158 |
456 | G>R | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000208073 RCV000248087 CA076791 rs370195451 |
467 | I>T | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs35366555 RCV000154659 RCV000204884 RCV001170729 RCV000245536 CA181124 |
470 | E>Q | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs397517846 RCV000041160 RCV000701648 RCV000240639 RCV001256889 RCV000491718 RCV000621584 |
470 | E>missing | Dilated cardiomyopathy 1CC Arrhythmogenic right ventricular dysplasia 9 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000222980 rs539665448 CA918874 RCV000466479 RCV002390583 |
472 | A>G | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
RCV001704886 RCV001170730 RCV000845464 rs794729091 RCV000458753 RCV000183679 RCV000249380 |
475 | R>missing | Cardiomyopathy Dilated cardiomyopathy 1CC Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs727504658 RCV000769824 RCV000701167 RCV002390473 CA335442 |
477 | I>T | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA340879348 rs1553240667 RCV000559091 |
477 | I>V | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA340879355 RCV000618386 COSM912320 rs1309129145 RCV001066584 |
478 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium Dilated cardiomyopathy 1CC [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000766517 RCV000535150 CA335415 RCV000845501 RCV000223852 rs181520023 RCV000619532 |
479 | L>F | Primary familial hypertrophic cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001040609 CA340879432 rs1342442796 |
484 | R>Q | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs368812830 RCV000994029 RCV001798220 RCV001039945 CA142116 RCV000041161 RCV001257941 |
485 | E>K | Cardiomyopathy Primary dilated cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000041162 CA142119 RCV000816014 RCV001753451 rs397517847 |
486 | A>G | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs373057251 CA335418 RCV002390472 RCV000183664 RCV000647280 |
491 | E>Q | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553241790 RCV000619366 RCV001855287 CA340880564 |
493 | D>N | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000621640 CA918909 RCV002498999 rs750183004 |
494 | D>V | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000769825 CA918914 rs778330292 |
497 | V>I | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001318065 rs1193200803 |
500 | A>S | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001320664 rs1425668712 RCV002395699 |
501 | R>missing | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002390363 CA184102 rs727504758 RCV000156066 RCV001051771 |
510 | K>E | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002402489 RCV001301329 RCV001089628 CA918920 rs759726867 |
510 | K>R | Hypertrophic cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1557996817 CA340880987 RCV000769826 |
517 | F>Y | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001719988 RCV001170732 RCV000157390 CA335379 RCV000470637 rs200071700 RCV002399564 |
528 | E>Q | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000769828 rs1557996950 CA913189324 |
528 | E>QK | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002390422 RCV000647277 RCV000656930 RCV000183645 rs764505909 RCV000769827 RCV000853115 |
528 | E>missing | Cardiomyopathy Primary dilated cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000769829 CA918927 rs766323670 |
529 | Q>K | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003165510 rs869025492 RCV001770158 RCV000208121 |
530 | R>missing | Left ventricular noncompaction cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000183685 RCV001360627 RCV001256888 RCV002399678 CA335463 rs754656961 |
532 | I>T | Dilated cardiomyopathy 1CC Hypertrophic cardiomyopathy 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1394704286 RCV000778993 RCV001307654 |
536 | K>missing | NEXN-Related Disorders Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779350415 RCV000725298 RCV001254746 RCV002480013 RCV000301273 |
537 | L>missing | Long QT syndrome Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001852364 RCV002399676 CA335424 rs373680705 RCV000183666 |
539 | R>C | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000853122 CA340881448 rs531641059 |
540 | M>T | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001170733 rs201390657 RCV000213635 RCV000547608 RCV000618620 RCV001711351 CA335427 |
540 | M>V | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs730880172 RCV000157393 |
544 | Q>missing | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002493718 RCV001328613 rs753636624 CA340881589 |
547 | I>N | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000618647 rs753636624 RCV000183686 RCV000820361 CA335466 |
547 | I>T | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1404772841 RCV000768804 CA340881606 |
548 | D>N | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001348346 rs1651445147 |
554 | K>E | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1221963637 RCV001170734 RCV000697820 |
555 | R>K | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397517848 RCV000852586 RCV000768806 RCV000041163 RCV000766518 RCV000618382 RCV001080274 |
561 | E>missing | Cardiomyopathy Long QT syndrome Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000621511 rs397517848 RCV002483027 RCV000767037 RCV000041164 |
562 | E>missing | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327835 rs1228931205 |
562 | E>missing | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397517848 RCV000463861 RCV002399679 RCV000183687 |
562 | E>missing | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000477760 rs1060499571 CA16616896 |
563 | G>C | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA340881928 RCV001256884 rs1167613126 |
565 | I>M | Dilated cardiomyopathy 1A [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs369894742 CA24691546 RCV000795205 |
566 | M>T | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV001345859 rs1169540111 CA340882149 |
575 | E>G | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA918977 RCV002280143 RCV000822424 RCV001328614 rs560530481 |
580 | G>E | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs397517851 RCV000041166 RCV000795836 RCV001762124 |
586 | K>missing | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000619359 rs369019618 RCV001220795 CA918981 |
591 | T>A | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA142134 RCV000994030 RCV000232351 RCV000157391 rs199738750 RCV000041167 |
596 | S>R | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA335436 RCV002408809 rs756709134 RCV002503720 RCV000183670 |
602 | T>M | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001267104 RCV000220963 rs876657928 RCV001069606 RCV002408932 RCV000766520 |
607 | G>missing | Dilated cardiomyopathy 1CC Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_063009 CA251427 rs137853198 RCV000000355 |
611 | P>T | Dilated cardiomyopathy 1CC CMD1CC; affects cardiac Z line integrity; no effect on protein expression and stability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000474162 CA16610222 rs1060502321 |
618 | E>K | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002411992 rs748404504 CA918994 RCV001309351 |
620 | E>G | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000823844 rs1571175641 CA340883094 |
626 | E>G | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs775292649 RCV002411191 CA919000 RCV001850571 RCV000403905 RCV000344842 |
631 | I>T | Hypertrophic cardiomyopathy Dilated cardiomyopathy 1CC Dilated Cardiomyopathy, Dominant [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs370965740 RCV001218078 RCV002406688 CA919001 RCV000768808 |
632 | E>Q | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1553242300 RCV000647284 |
634 | G>missing | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
CA335439 RCV001309065 RCV000183671 rs772833406 |
637 | Y>* | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000620168 rs1222794437 RCV000536642 RCV000786389 |
640 | Y>missing | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760119697 RCV000768809 CA919008 |
641 | L>S | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1651487390 RCV001052539 |
643 | E>A | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000986336 RCV000470679 RCV000768810 RCV000251358 rs397517853 RCV000766521 RCV000041169 |
650 | G>missing | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_063010 | 650 | G>del | CMD1CC; affects cardiac Z-disk integrity; no effect on protein expression and stability [UniProt] | Yes | UniProt |
|
rs1211415757 RCV001347761 |
651 | E>K | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137853197 RCV000208290 RCV000041170 CA142143 RCV003147270 RCV000234084 RCV001170736 RCV000000354 VAR_063011 RCV000246924 RCV000183674 RCV000491470 |
652 | Y>C | Hypertrophic cardiomyopathy 20 Cardiomyopathy Dilated cardiomyopathy 1S Primary dilated cardiomyopathy Dilated cardiomyopathy 1CC CMD1CC; affects cardiac Z line integrity; no effect on protein expression and stability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000222628 RCV000768811 CA10576435 rs876657929 RCV002415903 RCV001359679 |
661 | G>R | Cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA919015 rs777703689 RCV000647287 |
665 | S>I | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001699190 RCV001852835 CA142145 RCV000845374 rs374000722 RCV001170737 RCV000041171 |
666 | T>A | Cardiomyopathy Primary familial hypertrophic cardiomyopathy Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000549141 RCV001509042 CA919017 rs749271412 |
666 | T>N | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000480554 CA919019 rs774194309 RCV002420246 RCV000624596 |
669 | L>F | Primary familial hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1571176371 RCV000815304 CA340883744 |
670 | T>S | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000621846 RCV001868102 rs747781785 COSM912328 CA919020 |
671 | I>T | Variant assessed as Somatic; 0.0 impact. endometrium Dilated cardiomyopathy 1CC [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA919021 RCV001043993 rs771695320 |
672 | E>K | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1651500018 RCV001319151 |
673 | S>G | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10610758 RCV002024594 rs886046535 RCV002423277 |
674 | K>T | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001043340 RCV000183688 RCV002415786 RCV001704887 rs794729094 |
676 | N>H | Dilated cardiomyopathy 1CC [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1399365671 CA340884435 |
2 | N>S | No |
ClinGen gnomAD |
|
|
rs780371936 CA24704671 |
3 | D>V | No |
ClinGen Ensembl |
|
|
rs1208277369 CA340884468 |
4 | I>T | No |
ClinGen TOPMed |
|
|
rs1313784687 CA340884509 |
6 | Q>* | No |
ClinGen TOPMed |
|
|
rs749270888 CA24704679 |
7 | K>N | No |
ClinGen Ensembl |
|
|
rs753544397 CA24704675 |
7 | K>T | No |
ClinGen Ensembl |
|
|
rs1279028448 CA340884562 |
8 | A>T | No |
ClinGen TOPMed |
|
|
CA340884898 rs1557973740 |
12 | L>F | No |
ClinGen Ensembl |
|
|
CA24705135 rs980071495 |
14 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 17 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA918556 rs755997246 |
18 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1299454002 CA340885061 |
21 | T>A | No |
ClinGen gnomAD |
|
|
RCV000183647 CA335382 rs794729081 |
21 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA16042401 rs1057518512 COSM3790265 RCV000414636 |
22 | Y>C | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
CA24705157 rs571729575 |
23 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1160083243 CA340885125 |
24 | P>A | No |
ClinGen Ensembl |
|
|
rs754776133 CA918559 |
24 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754776133 CA24705158 |
24 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340885213 rs1204370547 |
27 | G>R | No |
ClinGen gnomAD |
|
|
rs1473681629 CA340885232 |
27 | G>V | No |
ClinGen TOPMed |
|
|
rs1266410169 CA340885241 |
28 | K>N | No |
ClinGen gnomAD |
|
|
CA918561 rs747778287 |
29 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA918562 rs771890063 |
33 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340885372 rs1250728392 |
34 | K>R | No |
ClinGen gnomAD |
|
|
rs1208062139 CA340885404 |
35 | F>S | No |
ClinGen TOPMed |
|
|
rs200345240 CA918563 |
36 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM912309 CA918564 rs746587731 |
37 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA918565 rs770360181 |
38 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340885518 rs1248321627 |
39 | Q>R | No |
ClinGen gnomAD |
|
|
CA340885534 rs1426671676 |
40 | R>T | No |
ClinGen gnomAD |
|
|
rs777157281 COSM1344417 CA918566 |
42 | R>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA24705189 rs946271161 |
45 | R>T | No |
ClinGen Ensembl |
|
|
rs1324188637 CA340885690 |
50 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1324188637 CA340885688 |
50 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA918568 rs770124387 |
51 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs371431782 CA340885717 |
52 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340885703 rs1299934097 |
52 | D>H | No |
ClinGen gnomAD |
|
|
rs764436772 CA918572 |
55 | Q>R | No |
ClinGen ExAC TOPMed |
|
|
rs751747124 CA918573 |
56 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs35330151 CA24705206 |
59 | E>D | No |
ClinGen gnomAD |
|
|
rs1219781969 CA340885828 |
59 | E>G | No |
ClinGen gnomAD |
|
|
CA918575 rs761888910 |
59 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA918576 rs753755373 |
61 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 62 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755012232 CA918577 |
62 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321983590 CA340885876 |
62 | I>V | No |
ClinGen TOPMed |
|
|
CA24705210 rs999958582 |
67 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| rs750492151 | 67 | W>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340886040 rs1162322745 |
72 | Q>K | No |
ClinGen TOPMed |
|
|
CA177484 rs727503342 RCV000151558 |
74 | I>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA24705285 rs368300372 |
76 | E>G | No |
ClinGen Ensembl |
|
|
rs1400298882 CA340886194 |
77 | M>L | No |
ClinGen gnomAD |
|
|
CA340886209 rs1176906985 |
78 | L>F | No |
ClinGen gnomAD |
|
|
RCV000041172 CA142148 rs372532824 |
83 | E>D | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM397121 rs754112822 CA918599 |
83 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs754112822 CA24705293 |
83 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565518624 CA918601 CA340886290 |
85 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1278719337 CA340886294 |
86 | V>I | No |
ClinGen gnomAD |
|
|
CA340886296 rs1278719337 |
86 | V>L | No |
ClinGen gnomAD |
|
|
CA918603 rs780750460 |
91 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1256690084 CA340886353 |
93 | A>T | No |
ClinGen gnomAD |
|
|
rs1483282057 CA340886360 |
94 | Y>D | No |
ClinGen gnomAD |
|
|
CA24705301 rs1034339687 |
95 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1184116101 CA340886377 |
96 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 97 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769310411 CA918605 |
99 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1390805779 CA340886412 |
100 | G>E | No |
ClinGen gnomAD |
|
|
CA340886398 rs1361285566 |
100 | G>R | No |
ClinGen gnomAD |
|
|
rs763920452 CA918616 |
104 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA340886440 rs1571114672 |
105 | R>G | No |
ClinGen Ensembl |
|
|
CA340886445 rs577229227 |
105 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA918617 rs751378631 |
105 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA24705381 rs946305583 |
108 | E>K | No |
ClinGen Ensembl |
|
|
CA340886470 rs1482175867 |
109 | M>K | No |
ClinGen TOPMed |
|
|
CA340886468 rs1323851445 |
109 | M>V | No |
ClinGen gnomAD |
|
|
rs375653702 CA918619 |
110 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754671609 CA24705386 |
110 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs2764942 CA24705388 |
112 | Q>P | No |
ClinGen Ensembl |
|
|
CA340886497 rs1302079359 |
113 | R>G | No |
ClinGen gnomAD |
|
|
CA340886501 rs1483121988 |
113 | R>I | No |
ClinGen TOPMed |
|
|
CA24705399 rs1041919558 |
114 | Q>P | No |
ClinGen Ensembl |
|
|
CA918622 rs755584968 |
115 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340886512 rs1557974750 |
115 | E>K | No |
ClinGen Ensembl |
|
|
CA340886518 rs1338557444 |
116 | E>K | No |
ClinGen gnomAD |
|
|
CA340886530 rs1210247971 |
117 | Q>R | No |
ClinGen gnomAD |
|
|
COSM3805910 rs755475702 CA918624 |
121 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA918625 rs748518328 |
122 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866906216 CA24705420 |
123 | E>V | No |
ClinGen Ensembl |
|
|
RCV000621766 COSM912311 rs747265816 CA918628 |
125 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA340886586 rs1013976922 |
126 | K>E | No |
ClinGen gnomAD |
|
|
CA24705428 rs1013976922 |
126 | K>Q | No |
ClinGen gnomAD |
|
|
rs771113424 CA24705448 |
127 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340886922 rs1459549980 |
130 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1365825267 CA340887010 |
133 | M>I | No |
ClinGen TOPMed |
|
|
rs975160415 CA24705466 |
133 | M>V | No |
ClinGen TOPMed |
|
|
CA340887033 rs1182794701 |
135 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 138 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA918631 rs774362262 |
139 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs922263550 CA24705472 |
140 | Q>R | No |
ClinGen TOPMed |
|
|
CA918632 rs761451693 |
141 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA918633 rs767335232 |
144 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340887212 rs1571115226 |
146 | R>T | No |
ClinGen Ensembl |
|
|
rs1557975025 CA340887242 |
148 | E>D | No |
ClinGen Ensembl |
|
|
rs794729082 CA335388 RCV000183650 |
148 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA918634 rs750032549 |
149 | Q>E | No |
ClinGen ExAC |
|
|
CA340871106 rs1479855643 |
150 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 155 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340871190 rs530346055 |
156 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA918655 rs530346055 |
156 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA918657 rs758902476 |
159 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1460083013 CA340871253 |
161 | A>E | No |
ClinGen Ensembl |
|
|
rs764833664 CA918658 |
162 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA340871275 rs1453728786 |
163 | E>G | No |
ClinGen gnomAD |
|
|
rs1393903654 CA340872088 |
166 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs770715323 CA918675 |
167 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA340872106 rs1409327676 |
167 | D>V | No |
ClinGen TOPMed |
|
|
rs759254510 CA918677 |
171 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA918678 rs752320160 |
173 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs763542738 CA918679 |
174 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA340872275 rs1234811320 |
177 | K>I | No |
ClinGen gnomAD |
|
|
CA340872290 rs1183764158 |
178 | S>A | No |
ClinGen TOPMed |
|
|
RCV000183652 rs764640427 CA335394 |
181 | T>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA340872362 rs1333566179 |
182 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 183 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752119041 CA918681 |
184 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA918682 rs757660015 |
185 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA918683 rs781639939 |
186 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA918684 rs750592270 |
187 | K>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000183677 rs794729089 |
191 | D>missing | No |
ClinVar dbSNP |
|
|
CA340872627 rs1447535343 |
195 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 195 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373982793 COSM912313 CA918686 |
196 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA340872650 rs373982793 |
196 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369486891 CA918685 |
196 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10610380 rs886046533 |
198 | E>V | No |
ClinGen Ensembl |
|
|
CA340872687 rs1354265495 |
199 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 203 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA918687 rs755062153 CA340872800 |
204 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA918689 rs370428679 |
206 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1314006959 CA340872915 |
210 | I>V | No |
ClinGen gnomAD |
|
|
rs769549962 CA340872953 |
212 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762488546 CA918694 |
214 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA918695 rs763730619 |
216 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA918696 rs774953468 |
216 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750862476 CA918699 |
225 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs397517859 RCV000041180 |
226 | S>missing | No |
ClinVar dbSNP |
|
|
rs1185561907 CA340873266 |
227 | L>V | No |
ClinGen gnomAD |
|
|
rs1475597161 CA340873292 |
228 | V>A | No |
ClinGen TOPMed |
|
|
CA918701 rs766561600 |
228 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA340873298 rs1179163117 |
229 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA340873300 rs1179163117 |
229 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA340873398 rs1557982088 |
230 | D>G | No |
ClinGen Ensembl |
|
|
CA340873446 rs1173550376 |
232 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs766683406 CA918719 |
234 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1411971209 CA340873526 |
235 | S>N | No |
ClinGen gnomAD |
|
|
CA340873532 rs1327222122 |
235 | S>R | No |
ClinGen gnomAD |
|
|
rs1352427612 CA340873539 |
236 | E>K | No |
ClinGen gnomAD |
|
|
rs1326005584 CA340873559 |
237 | A>E | No |
ClinGen gnomAD |
|
|
rs1445511154 CA340873554 |
237 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 240 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340873612 rs1232063684 |
240 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 240 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232063684 CA340873614 |
240 | E>V | No |
ClinGen gnomAD |
|
|
rs759801598 CA918722 |
243 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA24678718 rs1054602820 |
244 | P>S | No |
ClinGen Ensembl |
|
|
CA918726 rs755891400 |
251 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1193605585 CA340873985 |
255 | E>K | No |
ClinGen gnomAD |
|
|
rs1374176970 CA340874012 |
256 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA340874031 rs1166535653 |
257 | Q>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 260 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA918730 rs368545006 |
261 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369941497 CA918731 |
262 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs369941497 CA918732 |
262 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340874227 rs773726201 |
263 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA24678806 rs752321632 |
264 | K>Q | No |
ClinGen TOPMed |
|
|
rs1442572797 CA340874300 |
266 | A>G | No |
ClinGen TOPMed |
|
|
CA340874289 rs1432737859 |
266 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 266 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 267 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA24678822 rs1015746268 |
268 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777019202 CA340874396 |
270 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1173709645 CA340874382 |
270 | A>T | No |
ClinGen TOPMed |
|
|
rs777019202 CA918736 |
270 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA24678849 rs1026737137 |
278 | K>N | No |
ClinGen Ensembl |
|
|
CA918741 rs146245480 |
279 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756042503 CA918743 |
280 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340874608 rs1345711555 |
281 | F>S | No |
ClinGen TOPMed |
|
|
rs374691663 CA340874659 |
283 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1254325610 CA340874977 |
290 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 291 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775754826 CA918772 |
292 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA918773 rs749518363 |
296 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA918774 rs377374572 |
298 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 300 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1454711787 CA340875056 |
301 | I>V | No |
ClinGen gnomAD |
|
|
CA918777 rs41305640 |
304 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM3689841 rs541547470 CA918778 |
305 | Y>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs541547470 CA340875084 |
305 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765051104 CA918780 COSM252646 |
306 | R>C | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs765051104 CA918779 |
306 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA918783 rs751242648 |
307 | P>L | No |
ClinGen ExAC |
|
|
CA918782 rs763586017 |
307 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340875098 rs1237215959 |
308 | G>D | No |
ClinGen gnomAD |
|
|
CA340875182 rs1312083509 |
314 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 314 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA24681088 rs939239215 |
318 | E>Q | No |
ClinGen TOPMed |
|
|
CA24681096 rs74869315 |
320 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 322 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA918784 rs376358737 |
323 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1196365963 CA340875325 |
323 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA340875351 rs1182979644 |
324 | D>Y | No |
ClinGen TOPMed |
|
|
rs746341060 CA918785 |
327 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340875448 rs1265217475 |
327 | R>M | No |
ClinGen gnomAD |
|
|
CA340875603 rs1170219794 |
332 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1374513497 CA340875592 |
332 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA24681149 rs9660322 VAR_059414 |
335 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen UniProt Ensembl NCI-TCGA dbSNP |
|
rs794729090 RCV000183678 RCV002381607 |
336 | R>missing | No |
ClinVar dbSNP |
|
|
CA340875719 rs749553777 |
337 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930103276 CA24681151 |
338 | E>Q | No |
ClinGen gnomAD |
|
|
CA340875804 rs1367536601 |
342 | K>E | No |
ClinGen gnomAD |
|
|
rs1383203566 CA340875812 |
342 | K>T | No |
ClinGen gnomAD |
|
|
RCV002381606 RCV000183656 CA335403 rs769073940 |
343 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs748406664 CA918787 |
344 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748406664 CA24681183 |
344 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA24681193 rs888499011 |
345 | A>V | No |
ClinGen Ensembl |
|
|
rs773467629 CA918789 |
351 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA24684065 rs982964498 |
353 | V>I | No |
ClinGen TOPMed |
|
|
rs1487240684 CA340876499 |
354 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1476348276 CA340876549 |
356 | D>E | No |
ClinGen gnomAD |
|
|
rs1257882038 CA340876541 |
356 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA918800 rs754403259 |
357 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1161332877 CA340876589 |
359 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1359207073 CA340876599 |
360 | M>I | No |
ClinGen gnomAD |
|
|
CA24684109 rs541863348 |
361 | Y>C | No |
ClinGen Ensembl |
|
|
rs779386334 CA918802 |
362 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000183658 rs772491358 CA335406 |
365 | S>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA918804 rs777987010 COSM140364 |
367 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
RCV000678729 CA340876712 rs1557988169 |
370 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs200067011 CA24684201 |
371 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1223883098 CA340876719 |
371 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs762994761 CA340876727 |
373 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762994761 CA918807 |
373 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 380 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340876846 rs1399665829 |
380 | E>G | No |
ClinGen gnomAD |
|
|
CA340876904 rs1280854119 |
384 | Q>P | No |
ClinGen gnomAD |
|
|
rs768303624 CA918808 |
388 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA918809 rs774196183 |
388 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1237154318 CA340876970 |
389 | E>K | No |
ClinGen gnomAD |
|
|
rs767095757 CA918811 |
391 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340877007 rs1439689739 |
393 | T>A | No |
ClinGen gnomAD |
|
|
RCV000156238 rs727504874 |
394 | E>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 394 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760068434 CA918813 |
395 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs541982908 CA918814 |
396 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV002351308 rs754281087 CA918815 |
397 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1571150768 CA340877065 |
398 | K>R | No |
ClinGen Ensembl |
|
|
CA918817 rs779417583 |
399 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340877080 rs1571150811 |
399 | H>Q | No |
ClinGen Ensembl |
|
|
CA918818 rs753171810 |
400 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs962026856 CA24684308 |
400 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA340877087 rs962026856 COSM3419486 |
400 | K>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA340877112 rs1446015584 |
402 | E>D | No |
ClinGen gnomAD |
|
|
CA340877159 rs1305925901 |
406 | Q>* | No |
ClinGen TOPMed |
|
|
CA918822 rs778075640 |
406 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA918823 rs367768452 |
408 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA918825 rs781371108 |
409 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749176555 CA918826 |
409 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA918824 rs770893495 |
409 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340877200 rs781371108 |
409 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA524231116 rs1194846625 |
411 | L>AGRGGSRL* | No |
ClinGen gnomAD |
|
|
CA340877244 rs1467697667 |
413 | Q>H | No |
ClinGen TOPMed |
|
|
rs774281959 CA918828 |
414 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs972000302 CA24684369 |
417 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA918852 rs748109309 |
420 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209812466 CA340878062 |
421 | E>* | No |
ClinGen gnomAD |
|
|
rs200442502 CA24686381 |
424 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM214043 rs1409650449 CA340878208 |
425 | F>S | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA918855 rs746640006 |
430 | E>A | No |
ClinGen ExAC |
|
|
rs1036111395 CA24686400 |
431 | Y>C | No |
ClinGen TOPMed |
|
|
rs1262841397 CA340878354 |
431 | Y>H | No |
ClinGen gnomAD |
|
|
CA918856 rs770675602 |
432 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340878437 rs1187794613 |
433 | E>* | No |
ClinGen gnomAD |
|
|
CA918858 rs776163470 |
434 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340878480 rs1197822631 |
435 | I>T | No |
ClinGen TOPMed |
|
|
CA918859 rs200002561 |
439 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764871621 CA918860 |
440 | S>N | No |
ClinGen ExAC |
|
|
CA340878676 rs1162083420 |
442 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA340878674 rs1162083420 |
442 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1305454215 CA340878699 |
443 | I>N | No |
ClinGen TOPMed |
|
|
rs1305454215 CA340878708 |
443 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1421377983 CA340878764 |
446 | K>E | No |
ClinGen gnomAD |
|
|
CA918863 rs763593725 |
452 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1322499749 CA340878982 |
454 | K>E | No |
ClinGen TOPMed |
|
|
rs1338886488 CA340879020 |
455 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1281326026 CA340879017 |
455 | I>V | No |
ClinGen TOPMed |
|
|
CA24686520 rs1007403545 |
458 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA918865 rs767709993 |
459 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA340879154 rs1486189428 |
461 | K>I | No |
ClinGen gnomAD |
|
|
CA24686551 rs868861207 |
462 | E>K | No |
ClinGen Ensembl |
|
|
CA918867 rs750637324 |
462 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA918868 rs756141582 |
463 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA340879179 rs1571157523 |
463 | I>V | No |
ClinGen Ensembl |
|
| rs1365488625 | 467 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340879252 rs1186241599 |
468 | E>D | No |
ClinGen gnomAD |
|
|
rs758400214 CA918869 |
470 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs35366555 CA340879269 |
470 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA918870 rs777418673 |
471 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA918872 rs746761862 |
471 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs746761862 CA918871 |
471 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs373913251 CA24686664 |
472 | A>T | No |
ClinGen Ensembl |
|
|
rs1238533173 CA340879297 |
473 | R>G | No |
ClinGen gnomAD |
|
|
rs1296934495 CA340879313 |
474 | R>K | No |
ClinGen Ensembl |
|
| rs794729091 | 475 | R>missing | Variant assessed as Somatic; 4.639e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340879333 rs1329703763 |
476 | A>S | No |
ClinGen gnomAD |
|
|
CA340879339 rs1329703763 |
476 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV000155922 CA183791 RCV002390360 rs727504658 |
477 | I>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA340879370 rs1225095502 |
478 | D>E | No |
ClinGen TOPMed |
|
|
RCV000183680 rs794729092 |
482 | K>missing | No |
ClinVar dbSNP |
|
|
CA918878 rs762192995 |
482 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs767792289 CA918879 |
484 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA918881 rs397517847 |
486 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA340879456 rs1405580142 |
487 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 488 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458693491 CA340879474 |
488 | N>S | No |
ClinGen gnomAD |
|
|
rs753979244 CA918882 |
490 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340880590 rs1216412544 |
494 | D>E | No |
ClinGen gnomAD |
|
|
rs1273641425 CA340880580 |
494 | D>N | No |
ClinGen TOPMed |
|
|
RCV002395175 RCV000484070 rs1064796362 |
494 | D>missing | No |
ClinVar dbSNP |
|
|
CA918911 rs779810551 |
495 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA918912 rs779810551 |
495 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA918910 rs755975282 |
495 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1162348689 CA340880606 |
496 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1217078373 CA340880665 |
498 | R>K | No |
ClinGen gnomAD |
|
|
CA340880679 rs1264976467 |
499 | P>A | No |
ClinGen gnomAD |
|
|
rs1193200803 CA340880711 |
500 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1162711781 CA340880749 |
501 | R>K | No |
ClinGen gnomAD |
|
|
CA340880788 rs1368415456 |
503 | S>N | No |
ClinGen gnomAD |
|
|
CA24691025 rs757578397 |
503 | S>R | No |
ClinGen gnomAD |
|
|
rs747307600 CA918918 |
504 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs773724720 CA918917 |
504 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 505 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340880876 rs1287888920 |
509 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1287888920 CA340880883 |
509 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA340880897 rs727504758 |
510 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA24691045 rs781527902 |
511 | V>A | No |
ClinGen Ensembl |
|
|
rs775488884 CA918922 |
512 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA24691058 rs376347342 |
513 | M>V | No |
ClinGen ESP TOPMed |
|
|
CA340880989 rs1557996817 |
517 | F>C | No |
ClinGen Ensembl |
|
|
CA340880986 rs1375240177 |
517 | F>V | No |
ClinGen TOPMed |
|
|
rs1170576253 CA340881000 |
518 | E>Q | No |
ClinGen TOPMed |
|
|
rs763106647 CA918923 |
518 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA918924 rs767289699 |
519 | Q>* | No |
ClinGen ExAC |
|
|
CA335421 rs1553241851 |
522 | K>T | No |
ClinGen Ensembl |
|
|
rs1238292310 CA340881105 |
523 | A>V | No |
ClinGen gnomAD |
|
|
rs1484326712 CA340881132 |
525 | E>Q | No |
ClinGen gnomAD |
|
|
rs1180199844 CA340881166 |
526 | E>D | No |
ClinGen gnomAD |
|
|
CA340881168 rs1255557890 |
527 | E>K | No |
ClinGen gnomAD |
|
|
rs200071700 CA918926 |
528 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340881199 rs766323670 |
529 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA340881203 rs1201215511 |
529 | Q>P | No |
ClinGen TOPMed |
|
|
CA918929 rs753506475 |
531 | R>K | No |
ClinGen ExAC |
|
|
rs1449678899 CA340881252 |
532 | I>V | No |
ClinGen gnomAD |
|
|
rs1381384047 CA340881292 |
534 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 535 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 535 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1447486619 CA340881320 |
535 | Q>R | No |
ClinGen gnomAD |
|
|
CA340881363 rs1557997078 |
536 | K>R | No |
ClinGen Ensembl |
|
|
CA918934 COSM240871 rs747538932 |
539 | R>H | prostate haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA24691155 rs531641059 |
540 | M>R | No |
ClinGen gnomAD |
|
|
rs746088518 CA918936 |
541 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs769850133 CA918937 |
542 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs762898853 CA918940 |
543 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA918939 rs762898853 |
543 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1192146913 CA340881520 |
544 | Q>R | No |
ClinGen gnomAD |
|
|
rs773258784 CA918942 |
545 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA918941 rs773258784 |
545 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA918943 rs766276540 |
546 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340881621 rs1465710362 |
548 | D>E | No |
ClinGen gnomAD |
|
|
CA340881623 rs1332725424 |
549 | A>T | No |
ClinGen gnomAD |
|
|
CA340881651 rs1374575016 |
550 | A>V | No |
ClinGen gnomAD |
|
|
CA918944 rs754819624 |
551 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557379467 CA918946 |
553 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 556 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs978941382 CA24691469 |
556 | E>D | No |
ClinGen Ensembl |
|
|
rs1474810495 CA340881758 |
556 | E>Q | No |
ClinGen gnomAD |
|
|
rs927477236 CA24691504 |
558 | E>* | No |
ClinGen Ensembl |
|
|
rs927477236 RCV000617641 CA340881796 |
558 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 559 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 559 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA918965 rs377257742 |
560 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA24691513 rs910472798 |
562 | E>G | No |
ClinGen TOPMed |
|
|
RCV000183668 CA335430 rs794729085 |
562 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA340881887 rs1302389645 |
563 | G>D | No |
ClinGen gnomAD |
|
|
rs763580457 CA918966 |
565 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296547504 CA340881946 |
567 | N>D | No |
ClinGen gnomAD |
|
|
rs751010716 CA918967 |
567 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs756764411 CA918968 |
569 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs750958594 CA918972 |
573 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA918973 rs756408591 |
574 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs540870664 CA340882136 |
575 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1379585214 CA340882160 |
575 | E>D | No |
ClinGen Ensembl |
|
|
CA918974 rs540870664 |
575 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540870664 CA918975 |
575 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769060674 CA918976 |
578 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA340882207 rs374878979 |
578 | R>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV002399677 CA335433 RCV000183669 rs374878979 |
578 | R>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1557998064 CA340882238 |
579 | S>L | No |
ClinGen Ensembl |
|
|
CA918979 rs776384009 |
582 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA340882287 rs1271574918 |
582 | P>S | No |
ClinGen TOPMed |
|
|
CA340882304 rs1223656449 |
583 | W>R | No |
ClinGen TOPMed |
|
|
rs929641570 CA24691683 |
584 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs929641570 CA340882348 |
584 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1571175013 CA340882450 |
587 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 588 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336308420 CA340882486 |
589 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 590 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775423327 CA918982 |
591 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs369019618 CA24691711 |
591 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340882515 rs369019618 |
591 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA918983 rs372924196 |
593 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA918984 rs763668453 |
594 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA340882600 RCV000494650 rs1131691984 |
595 | D>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA918986 rs761262985 |
596 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA24691758 rs771979669 |
597 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA918987 rs750860744 |
601 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA340882694 rs1441251448 |
601 | F>L | No |
ClinGen TOPMed |
|
|
CA340882760 rs1441395532 |
604 | K>E | No |
ClinGen gnomAD |
|
|
CA340882797 rs1179478486 |
606 | T>S | No |
ClinGen gnomAD |
|
|
rs766636549 CA918990 |
607 | G>* | No |
ClinGen ExAC |
|
|
CA340882827 rs1174498792 |
607 | G>E | No |
ClinGen gnomAD |
|
|
rs201427461 CA918991 |
608 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA |
|
CA918992 rs755400799 |
610 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA340882920 rs1332052631 |
613 | I>S | No |
ClinGen gnomAD |
|
|
CA340882918 rs1332052631 |
613 | I>T | No |
ClinGen gnomAD |
|
|
rs1410398109 CA340882929 |
614 | T>A | No |
ClinGen TOPMed |
|
|
CA340882964 rs1379773341 |
616 | W>* | No |
ClinGen gnomAD |
|
|
rs1445213406 CA340882986 |
617 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA340883022 rs1332021360 |
619 | G>E | No |
ClinGen gnomAD |
|
|
CA918993 rs779240808 |
619 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs748404504 CA340883033 |
620 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340883070 rs1468478269 |
623 | Q>* | No |
ClinGen TOPMed |
|
|
CA340883069 rs1468478269 |
623 | Q>E | No |
ClinGen TOPMed |
|
|
rs777950595 CA918996 |
623 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1202499982 CA340883081 |
624 | D>G | No |
ClinGen gnomAD |
|
|
rs946744384 CA24691865 |
624 | D>H | No |
ClinGen TOPMed |
|
|
rs1571175624 CA340883090 |
625 | G>V | No |
ClinGen Ensembl |
|
|
CA340883104 rs1469965559 COSM912327 |
627 | D>G | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
COSM1134946 rs766962142 CA918997 |
628 | Y>C | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA340883107 rs1258136800 |
628 | Y>N | No |
ClinGen gnomAD |
|
| TCGA novel | 629 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769713624 CA918999 |
630 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA919003 rs768461695 |
633 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768461695 CA919002 |
633 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766929724 CA919006 |
636 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1222507869 CA340883202 |
642 | P>A | No |
ClinGen gnomAD |
|
|
CA335445 COSM1344426 RCV000183673 rs794729086 RCV000223684 |
645 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1278330309 COSM1344426 CA340883221 |
645 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA919009 rs766845383 |
646 | P>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000041168 CA142137 rs397517852 |
646 | P>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs397517852 CA340883229 |
646 | P>R | No |
ClinGen gnomAD |
|
|
rs754430866 CA919010 |
648 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA340883242 rs754430866 |
648 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1553242326 RCV000620923 |
651 | E>missing | No |
ClinVar dbSNP |
|
|
rs1211415757 CA340883258 |
651 | E>Q | No |
ClinGen gnomAD |
|
|
CA919012 rs752936710 |
653 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765745920 CA919011 |
653 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA24692031 rs370310107 |
659 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1169767851 CA340883685 |
664 | A>G | No |
ClinGen gnomAD |
|
|
rs777703689 CA919014 |
665 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA340883702 rs749271412 |
666 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000183675 rs794729087 CA335448 |
667 | C>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA919018 rs768404567 |
668 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214715218 CA340883740 |
669 | L>P | No |
ClinGen TOPMed |
|
|
CA340883751 rs1483981258 |
671 | I>V | No |
ClinGen gnomAD |
|
|
CA10576436 RCV000216284 rs876657930 |
672 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs113360299 CA340883767 |
673 | S>N | No |
ClinGen gnomAD |
|
|
CA919022 TCGA novel rs539689450 |
673 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs113360299 CA24692129 |
673 | S>T | No |
ClinGen gnomAD |
2 associated diseases with Q0ZGT2
[MIM: 613122]: Cardiomyopathy, dilated 1CC (CMD1CC)
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:19881492}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613876]: Cardiomyopathy, familial hypertrophic 20 (CMH20)
A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:20970104}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:19881492}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:20970104}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| 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. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| 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 |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| cell-cell adhesion mediator activity | The binding by a cell-adhesion protein on the cell surface to an extracellular matrix component, to mediate adhesion of the cell to another cell. |
| structural constituent of muscle | The action of a molecule that contributes to the structural integrity of a muscle fiber. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| dendrite self-avoidance | The process in which dendrites recognize and avoid contact with sister dendrites from the same cell. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
| regulation of cell migration | Any process that modulates the frequency, rate or extent of cell migration. |
| regulation of cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNDISQKAEI | LLSSSKPVPK | TYVPKLGKGD | VKDKFEAMQR | AREERNQRRS | RDEKQRRKEQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YIREREWNRR | KQEIKEMLAS | DDEEDVSSKV | EKAYVPKLTG | TVKGRFAEME | KQRQEEQRKR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TEEERKRRIE | QDMLEKRKIQ | RELAKRAEQI | EDINNTGTES | ASEEGDDSLL | ITVVPVKSYK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TSGKMKKNFE | DLEKEREEKE | RIKYEEDKRI | RYEEQRPSLK | EAKCLSLVMD | DEIESEAKKE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SLSPGKLKLT | FEELERQRQE | NRKKQAEEEA | RKRLEEEKRA | FEEARRQMVN | EDEENQDTAK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IFKGYRPGKL | KLSFEEMERQ | RREDEKRKAE | EEARRRIEEE | KKAFAEARRN | MVVDDDSPEM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YKTISQEFLT | PGKLEINFEE | LLKQKMEEEK | RRTEEERKHK | LEMEKQEFEQ | LRQEMGEEEE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ENETFGLSRE | YEELIKLKRS | GSIQAKNLKS | KFEKIGQLSE | KEIQKKIEEE | RARRRAIDLE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IKEREAENFH | EEDDVDVRPA | RKSEAPFTHK | VNMKARFEQM | AKAREEEEQR | RIEEQKLLRM |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QFEQREIDAA | LQKKREEEEE | EEGSIMNGST | AEDEEQTRSG | APWFKKPLKN | TSVVDSEPVR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FTVKVTGEPK | PEITWWFEGE | ILQDGEDYQY | IERGETYCLY | LPETFPEDGG | EYMCKAVNNK |
| 670 | |||||
| GSAASTCILT | IESKN |