P18206
SS
Gene name |
VCL |
Protein name |
Vinculin |
Names |
Metavinculin, MV |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7414 |
EC number |
|
Protein Class |
|
Descriptions
Vinculin is a highly conserved intracellular protein with a crucial role in the maintenance and regulation of cell adhesion and migration. N-terminal globular head (Vh) is composed of subdomains (D1-D4). The C-terminal tail (Vt) binds F-actin. A strap sequence (878-890) between Pro-rich region and Vt packs against the Vt and thereby masks the F-actin-binding domain in Vt.
Autoinhibitory domains (AIDs)
Target domain |
896-1066 (Vt domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
References
- Bakolitsa C et al. (2004) "Structural basis for vinculin activation at sites of cell adhesion", Nature, 430, 583-6
- Heier JA et al. (2021) "Distinct intramolecular interactions regulate autoinhibition of vinculin binding in αT-catenin and αE-catenin", The Journal of biological chemistry, 296, 100582
- Ishiyama N et al. (2013) "An autoinhibited structure of α-catenin and its implications for vinculin recruitment to adherens junctions", The Journal of biological chemistry, 288, 15913-25
- Hirano Y et al. (2018) "The force-sensing device region of α-catenin is an intrinsically disordered segment in the absence of intramolecular stabilization of the autoinhibitory form", Genes to cells : devoted to molecular & cellular mechanisms, 23, 370-385
- Choi HJ et al. (2012) "αE-catenin is an autoinhibited molecule that coactivates vinculin", Proceedings of the National Academy of Sciences of the United States of America, 109, 8576-81
- Rangarajan ES et al. (2023) "Distinct inter-domain interactions of dimeric versus monomeric α-catenin link cell junctions to filaments", Communications biology, 6, 276
- Barrick S et al. (2018) "Salt bridges gate α-catenin activation at intercellular junctions", Molecular biology of the cell, 29, 111-122
- Li J et al. (2015) "Structural Determinants of the Mechanical Stability of α-Catenin", The Journal of biological chemistry, 290, 18890-903
Autoinhibited structure
Activated structure
37 structures for P18206
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1RKC | X-ray | 270 A | A | 1-258 | PDB |
| 1RKE | X-ray | 235 A | PDB | ||
| 1SYQ | X-ray | 242 A | A | 1-258 | PDB |
| 1TR2 | X-ray | 290 A | A/B | 1-1134 | PDB |
| 1YDI | X-ray | 180 A | A | 1-258 | PDB |
| 2GWW | X-ray | 272 A | A | 1-258 | PDB |
| 2HSQ | X-ray | 397 A | A | 1-258 | PDB |
| 2IBF | X-ray | 320 A | A | 1-258 | PDB |
| 3H2U | X-ray | 275 A | A/C | 879-1134 | PDB |
| 3H2V | X-ray | 290 A | A/B/C/D | 879-1134 | PDB |
| 3JBK | EM | 820 A | M | 858-1129 | PDB |
| 3MYI | X-ray | 220 A | A | 959-1130 | PDB |
| 3RF3 | X-ray | 161 A | A/B | 1-258 | PDB |
| 3S90 | X-ray | 197 A | A/B | 1-252 | PDB |
| 3TJ5 | X-ray | 199 A | A | 1-255 | PDB |
| 3TJ6 | X-ray | 276 A | A | 1-257 | PDB |
| 3VF0 | X-ray | 254 A | A | 856-1134 | PDB |
| 4DJ9 | X-ray | 225 A | A | 1-258 | PDB |
| 4EHP | X-ray | 266 A | A | 1-252 | PDB |
| 4LN2 | X-ray | 100 A | B | 857-867 | PDB |
| 4LNP | X-ray | 141 A | B | 870-879 | PDB |
| 4PR9 | X-ray | 320 A | A/B/C/D/E/F | 891-1134 | PDB |
| 5L0C | X-ray | 310 A | A/B/C/D | 959-1134 | PDB |
| 5L0D | X-ray | 275 A | A/B/C/D | 959-1130 | PDB |
| 5L0F | X-ray | 276 A | A/B | 959-1134 | PDB |
| 5L0G | X-ray | 340 A | A/B/C/D | 959-1134 | PDB |
| 5L0H | X-ray | 290 A | A | 959-1134 | PDB |
| 5L0I | X-ray | 245 A | A | 959-1134 | PDB |
| 5L0J | X-ray | 400 A | A/B | 969-1134 | PDB |
| 5O2Q | NMR | - | A | 854-870 | PDB |
| 6FUY | X-ray | 300 A | A | 1-1134 | PDB |
| 6UPW | EM | 290 A | L/M | 1-1134 | PDB |
| 7KTT | EM | 417 A | A | 1-1134 | PDB |
| 7KTU | EM | 415 A | A | 1-1134 | PDB |
| 7KTV | EM | 450 A | A | 1-1134 | PDB |
| 7KTW | EM | 427 A | A | 1-1134 | PDB |
| AF-P18206-F1 | Predicted | AlphaFoldDB |
729 variants for P18206
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs777811020 CA5562696 RCV000645313 |
11 | S>N | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060502194 CA16612941 RCV000462199 |
38 | P>L | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001869155 rs1565628951 RCV000780786 CA377255463 |
51 | V>F | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10629031 rs886047216 RCV000405243 |
52 | S>T | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5562707 RCV000477949 rs751938777 |
53 | N>S | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5562708 RCV000622645 RCV000218318 rs755441334 |
55 | V>F | Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA377255550 RCV000553908 rs1555112641 |
56 | R>W | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000614341 rs769799445 CA5562723 RCV000460522 |
62 | V>A | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA377260211 rs1196607553 RCV000498510 |
74 | M>V | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA335607 RCV000815842 RCV000183986 rs373830664 |
75 | P>L | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1841649925 RCV001108773 |
86 | T>A | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinVar dbSNP |
|
rs148966602 CA10636308 RCV000359201 |
126 | F>L | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA238349 RCV000172496 RCV000620510 rs373744314 RCV000770292 |
135 | I>T | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA377266494 rs1421034616 RCV000645326 |
146 | T>K | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000539544 rs1554816691 CA377266616 |
153 | T>I | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1841656671 RCV001170936 |
162 | K>N | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000770293 CA377267814 rs1564523552 |
167 | G>E | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5562794 RCV000697089 rs758498714 |
171 | M>V | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1007055332 RCV001047739 CA209693110 |
177 | E>K | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000694893 rs1564523578 CA377267958 |
179 | Q>P | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000645310 RCV000038833 rs397517244 CA261761 RCV000183988 |
188 | R>* | Dilated cardiomyopathy 1W Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001853319 RCV000208407 CA353999 rs151045204 |
189 | V>M | Dilated cardiomyopathy 1W Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs760340545 CA5562807 RCV000458822 |
198 | V>M | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000770295 CA209694024 rs751243981 |
209 | M>K | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5562829 RCV000770294 RCV000577975 RCV000577945 rs144683137 |
209 | M>L | Dilated cardiomyopathy 1W Cardiomyopathy Hypertrophic cardiomyopathy 15 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001228315 rs397517245 |
220 | N>missing | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000172497 RCV000227145 RCV000038838 CA136805 rs139312390 |
230 | R>C | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200956572 CA238352 RCV000172498 RCV000686012 |
232 | F>Y | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs757655707 CA5562836 RCV000697417 |
234 | V>A | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA335616 rs746577068 RCV000558037 |
246 | R>H | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA377268608 RCV000645316 rs56413529 |
256 | D>E | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000678762 rs142233726 CA5562861 RCV000530764 |
263 | T>S | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA121941 RCV000012982 rs71579353 VAR_035101 RCV000645321 RCV000768535 RCV000617420 |
277 | L>M | Dilated cardiomyopathy 1W CMH15 Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy 15 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000645325 CA5562874 rs757517552 |
285 | R>C | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs138270989 CA5562875 RCV001089621 |
288 | S>T | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs886047217 CA10629033 RCV000384233 |
301 | Q>* | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA136817 RCV000038842 rs397517247 RCV000472922 |
318 | R>C | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1564526327 RCV000769107 |
322 | L>missing | Cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5562917 rs778875353 RCV000468809 |
344 | G>A | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000477789 CA5562919 RCV000544872 rs148619523 |
347 | P>L | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs777709634 CA5562923 RCV000697668 |
349 | A>V | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs771542436 CA5562925 RCV000693616 |
350 | M>I | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000227537 CA10582733 rs377289804 |
372 | R>H | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000763670 rs201528612 RCV000172500 CA238358 |
398 | P>S | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000463998 RCV000786266 CA5562950 rs377228795 |
399 | N>H | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs878854969 RCV000233241 RCV000251883 CA10582734 |
408 | I>T | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000172502 rs202005455 RCV000795188 CA238361 |
409 | R>* | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs146278697 CA136682 RCV000038791 RCV000243153 RCV000543932 RCV000172734 |
413 | A>T | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5562959 rs758811315 COSM1321202 RCV000470634 |
416 | R>Q | ovary Dilated cardiomyopathy 1W [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5562965 rs769504902 RCV000556455 |
423 | D>G | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs139371702 RCV000645323 CA5562966 |
429 | D>E | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001220406 RCV000505719 CA335625 rs766192312 |
431 | I>S | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000152645 rs144146254 RCV000474898 RCV000172503 CA179605 |
432 | L>V | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000845532 RCV002068635 CA5562968 rs139559937 |
433 | R>C | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs765607137 RCV000999587 CA5562970 |
437 | E>K | Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1554817862 CA377273364 RCV000549834 |
440 | A>V | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753026034 CA5562999 RCV000350761 |
460 | R>Q | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA377273697 RCV000850342 rs886038800 |
461 | A>D | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001857854 CA10587706 RCV000248702 rs886038800 |
461 | A>G | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000533986 rs147957747 RCV000183998 CA335631 |
468 | T>M | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001106706 CA5563008 RCV001560110 rs763235691 |
478 | N>S | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001106707 rs1839933596 |
491 | V>A | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinVar dbSNP |
|
rs572757800 CA5563014 RCV000689300 RCV000615524 RCV000678763 |
497 | I>T | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000476364 CA5563018 rs745343813 |
504 | I>T | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs863225121 RCV000201438 CA279267 |
511 | D>Y | Hypertrophic cardiomyopathy 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000620528 RCV000551156 rs781079975 CA5563020 |
512 | R>C | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1215494764 CA377274038 RCV000686939 |
515 | G>S | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs141033098 RCV000038798 RCV000157581 RCV000624752 CA136703 RCV000172735 RCV000253868 |
519 | I>L | Cardiomyopathy Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000208082 CA354855 RCV000695502 rs757009736 RCV000991075 |
520 | R>Q | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000645328 CA209703473 rs923960592 |
528 | R>C | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000853423 rs775532849 CA377274412 |
533 | M>I | Aborted sudden cardiac death [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001106708 CA5563041 rs775532849 |
533 | M>I | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5563044 RCV000358277 rs566596830 |
538 | R>Q | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000645327 CA5563046 RCV000769111 rs370229150 RCV000246145 |
541 | L>V | Dilated cardiomyopathy 1W Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001351088 rs1274067747 |
546 | D>G | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706315 rs1406371942 CA377274828 |
550 | Q>E | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000184000 CA335637 rs794729191 RCV000530068 |
570 | R>* | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16612848 RCV000456205 rs1060502197 |
572 | L>P | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000542650 rs779488376 RCV000602633 |
573 | A>missing | Dilated cardiomyopathy 1W Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs727504381 RCV000154540 CA273521 |
588 | Q>* | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000038807 RCV000172505 rs397517236 CA136727 RCV000769113 |
600 | S>R | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs960761223 CA209704317 RCV000555254 |
605 | P>R | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5563089 rs750293810 RCV001220591 |
606 | I>V | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs148669762 RCV000038809 COSM3738725 RCV000701609 CA136733 |
615 | A>V | Dilated cardiomyopathy 1W liver [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs771628544 CA5563094 RCV000688456 |
619 | A>V | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs374309823 RCV000645318 CA377276900 |
621 | N>H | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA5563096 RCV000645329 rs746293391 |
621 | N>K | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs771590749 CA5563097 RCV000462273 |
622 | R>K | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060502193 RCV000460415 CA16612854 |
623 | E>A | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs727503739 RCV000152647 CA179608 RCV001857524 RCV001798490 |
630 | A>T | Dilated cardiomyopathy 1W Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000529125 CA209706156 rs915381122 |
639 | K>N | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs886047219 CA10636324 RCV000363937 |
640 | L>F | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs150643310 RCV000656206 RCV000756899 CA5563121 COSM196279 |
643 | T>M | large_intestine Wolff-Parkinson-White pattern [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs534449109 RCV001853678 RCV000523002 CA5563125 |
647 | A>V | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10636334 RCV001509390 RCV000269369 rs886047220 |
666 | K>N | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA335594 rs794729187 RCV000546287 RCV000183978 |
667 | T>M | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs759771302 CA5563136 RCV000704837 |
669 | R>Q | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5563157 RCV000627046 rs375392559 |
679 | A>S | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA5563158 RCV001869381 RCV000994449 rs759356162 |
680 | R>C | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000253826 CA179611 RCV000497573 RCV000152648 RCV000645322 rs565398652 RCV000769114 |
682 | L>F | Dilated cardiomyopathy 1W Cardiomyopathy Hypertrophic cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA346781 RCV000157582 rs730880249 |
684 | R>G | Ventricular fibrillation, paroxysmal familial, type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA209694093 rs1022329091 RCV000769115 |
715 | E>K | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000645315 CA377261693 rs1554818884 |
725 | A>T | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA377262346 RCV000530467 rs1425397914 |
759 | R>Q | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001796221 RCV000793140 rs540039788 CA5563187 |
762 | R>Q | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA377262541 RCV000688875 rs1564532927 |
777 | P>L | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001103719 CA5563191 rs753445972 |
780 | R>C | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000465443 rs745419923 RCV000498277 CA5563194 |
789 | E>K | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000645309 rs1241654679 |
796 | P>missing | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000594874 RCV001854019 rs1364541925 CA377262782 |
796 | P>L | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001171116 CA5563207 rs754294941 |
803 | A>T | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA209695415 rs960017518 RCV000645324 |
815 | K>E | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000491755 RCV000464811 RCV000038813 CA136745 RCV000620621 rs373010557 |
815 | K>R | Dilated cardiomyopathy 1W Dilated cardiomyopathy 1S [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000175201 RCV001852143 rs794727192 CA240906 |
818 | L>Q | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5563240 rs145393322 RCV000645314 |
844 | P>L | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000543113 rs1554819202 CA377264033 |
856 | D>N | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001243223 rs1840179829 |
860 | P>missing | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000476338 rs752902180 CA16612856 |
883 | E>D | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1554819236 RCV000645312 CA377264398 |
900 | M>T | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA209697674 RCV001047957 rs143321584 |
916 | P>L | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs746658025 CA5563313 RCV000557018 |
935 | D>N | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5563314 RCV000697268 rs754681045 |
936 | A>V | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000457027 rs1060502196 CA16613175 |
942 | P>S | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1840230101 RCV001070870 |
943 | P>missing | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000184003 RCV000501801 RCV000537723 RCV000219138 rs781036800 |
943 | P>missing | Dilated cardiomyopathy 1W Hypertrophic cardiomyopathy 15 Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001575741 RCV001858506 rs1443843519 RCV000852431 CA377264694 |
945 | M>T | Dilated cardiomyopathy 1W Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001246144 rs368570586 CA136758 RCV000766998 COSM1349108 RCV000038818 |
951 | P>R | Dilated cardiomyopathy 1W large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000231976 rs878854972 |
952 | E>missing | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5563325 RCV000769118 rs765717598 |
956 | M>R | Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16612943 rs761830073 RCV000465742 |
956 | M>V | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs758969419 CA5563328 RCV000645319 |
959 | N>D | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000244158 rs758969419 CA5563327 RCV000472333 |
959 | N>H | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001293229 rs754591130 CA5563331 |
961 | P>Q | Primary dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777702397 RCV000550360 CA5563334 |
963 | N>D | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000172507 rs749236817 CA238370 RCV000621970 RCV001852097 |
965 | P>S | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199751261 RCV000756900 RCV001855882 CA5563336 |
969 | A>T | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA235793 RCV000526504 rs767325003 RCV000171177 |
975 | R>Q | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000620759 RCV000012980 rs121917776 RCV000012981 CA121939 VAR_035105 |
975 | R>W | CMD1W; significantly alters metavinculin-mediated cross-linking of actin filaments Dilated cardiomyopathy 1W Hypertrophic cardiomyopathy 15 [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA377264902 RCV000845424 rs1591718331 |
979 | K>E | Primary familial dilated cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001798123 CA136764 rs150595117 RCV000539097 RCV000038820 RCV000243207 RCV000786265 RCV000515262 |
990 | A>V | Dilated cardiomyopathy 1W Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000551716 CA377266396 rs1554819624 |
993 | R>L | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs748708754 RCV000796420 |
1015 | L>missing | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1840287071 RCV001332992 |
1053 | C>Y | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554819693 RCV000645311 CA377267645 |
1082 | E>A | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs149300310 CA5563466 RCV000769120 RCV000645317 |
1089 | E>D | Dilated cardiomyopathy 1W Cardiomyopathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA136783 RCV000038828 RCV000555348 rs373317423 |
1125 | R>C | Dilated cardiomyopathy 1W [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1312868617 CA377268838 RCV000656218 |
1127 | V>I | Wolff-Parkinson-White pattern [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA209683515 rs929741279 |
2 | P>A | No |
ClinGen TOPMed |
|
|
CA377254505 rs1285375542 |
3 | V>A | No |
ClinGen TOPMed |
|
|
CA377254595 rs764871020 |
7 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA5562694 rs764871020 |
7 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA377254615 rs1183306992 |
8 | T>K | No |
ClinGen gnomAD |
|
|
CA136773 RCV000038824 rs397517240 |
11 | S>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs770570643 CA5562698 |
12 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA335610 rs794729189 RCV000183987 |
17 | A>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1378693067 CA377254812 |
17 | A>T | No |
ClinGen gnomAD |
|
|
CA377254935 rs1215274479 |
22 | H>Y | No |
ClinGen gnomAD |
|
|
CA5562702 rs776882033 |
23 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA377254986 rs1198500252 |
24 | V>M | No |
ClinGen gnomAD |
|
|
rs1255155707 CA377255052 |
26 | M>I | No |
ClinGen gnomAD |
|
|
CA377255067 rs1486411009 |
27 | H>Y | No |
ClinGen gnomAD |
|
|
rs1208436782 CA377255211 |
34 | G>S | No |
ClinGen gnomAD |
|
|
CA209683575 rs139329923 |
35 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs866262635 CA209683594 |
41 | T>A | No |
ClinGen Ensembl |
|
|
rs1425074543 CA377255307 |
41 | T>I | No |
ClinGen gnomAD |
|
|
rs554116863 CA5562706 |
44 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA209683605 rs1039626542 |
45 | A>D | No |
ClinGen Ensembl |
|
|
rs992545879 CA209683608 |
46 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1331916046 CA377255393 |
46 | A>V | No |
ClinGen gnomAD |
|
|
CA377255411 rs1431682297 |
48 | Q>E | No |
ClinGen gnomAD |
|
|
rs1290715724 CA377255437 |
49 | A>V | No |
ClinGen gnomAD |
|
|
rs1338611617 CA377255455 |
50 | A>G | No |
ClinGen gnomAD |
|
|
rs147809878 CA5562722 |
62 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5562725 rs762999933 |
66 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA377260100 rs1215296365 |
67 | D>G | No |
ClinGen gnomAD |
|
|
rs1351010251 CA377260089 |
67 | D>H | No |
ClinGen gnomAD |
|
|
rs766886119 CA5562726 |
73 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5562728 rs775532257 RCV000588537 |
80 | K>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA377265669 RCV000522035 rs1554816646 |
83 | N>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1017527931 CA209692274 |
85 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1467598973 CA377265752 |
90 | Q>R | No |
ClinGen gnomAD |
|
|
rs749355014 CA5562743 |
91 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1400110613 CA377265760 |
91 | A>S | No |
ClinGen gnomAD |
|
|
rs770946581 CA5562744 |
93 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA5562745 rs774870551 |
94 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1174697646 CA377265828 |
97 | S>* | No |
ClinGen gnomAD |
|
|
RCV000184005 CA335644 rs794729193 |
98 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs397517239 RCV000038823 CA261758 |
105 | R>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA377265955 rs1270016922 |
109 | I>M | No |
ClinGen TOPMed |
|
|
CA377265957 rs1318524819 |
110 | D>N | No |
ClinGen gnomAD |
|
|
rs1211967106 CA377265981 |
112 | S>L | No |
ClinGen TOPMed |
|
|
CA377266052 rs1460674007 |
119 | T>S | No |
ClinGen gnomAD |
|
|
CA377266069 rs1564523134 |
121 | D>H | No |
ClinGen Ensembl |
|
|
CA377266110 rs1554816666 RCV000522532 |
127 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA377266227 rs1489339580 |
132 | R>C | No |
ClinGen gnomAD |
|
|
CA377266230 rs1272048875 |
132 | R>H | No |
ClinGen gnomAD |
|
|
CA5562767 rs749922427 |
138 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA377266342 rs1376212296 |
139 | K>R | No |
ClinGen gnomAD |
|
|
rs1465855539 CA377266352 |
140 | G>R | No |
ClinGen gnomAD |
|
|
CA377266437 rs1360745004 |
144 | Y>H | No |
ClinGen gnomAD |
|
|
rs1421034616 CA377266502 |
146 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5562770 rs751528827 |
152 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209692406 rs376921881 |
153 | T>P | No |
ClinGen ESP TOPMed |
|
|
rs1387221008 CA377266620 |
154 | M>L | No |
ClinGen gnomAD |
|
|
CA5562771 rs371583362 |
158 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1591686988 CA377266726 |
158 | V>G | No |
ClinGen Ensembl |
|
|
CA377266770 rs1329191555 |
161 | T>A | No |
ClinGen gnomAD |
|
|
CA5562772 rs376226543 |
161 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1372846464 CA377266884 |
166 | P>L | No |
ClinGen TOPMed |
|
|
rs1474901792 CA377266879 |
166 | P>S | No |
ClinGen TOPMed |
|
|
CA377266894 rs1285320578 |
167 | G>R | No |
ClinGen gnomAD |
|
|
CA5562792 rs779240568 |
168 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5562793 rs750701726 |
170 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs983682263 CA209693104 |
175 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs573623641 CA5562795 |
176 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA377267939 rs1444296833 |
177 | E>D | No |
ClinGen gnomAD |
|
|
CA209693115 rs1054125202 |
179 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1230135180 CA377267994 |
182 | L>I | No |
ClinGen gnomAD |
|
|
CA5562798 rs781748134 |
183 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1321660809 CA377268016 |
184 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA377268030 rs1219714025 |
185 | Q>* | No |
ClinGen gnomAD |
|
|
rs1456753342 CA377268048 |
186 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs770173689 CA5562800 |
188 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5562801 rs151045204 RCV000522100 |
189 | V>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV000038834 CA136796 rs151045204 |
189 | V>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA377268077 rs1215944445 |
191 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1410897483 CA377268090 |
193 | N>S | No |
ClinGen gnomAD |
|
|
CA209693155 rs921627346 |
194 | S>L | No |
ClinGen Ensembl |
|
|
CA5562804 rs759141517 |
195 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs933049842 CA209693165 |
196 | N>T | No |
ClinGen Ensembl |
|
|
CA136799 rs189242810 |
197 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760340545 CA5562806 |
198 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs971305103 CA209693177 |
200 | E>K | No |
ClinGen TOPMed |
|
|
CA183422 rs727504585 RCV000788187 RCV000155758 |
204 | V>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA377268163 rs1450398912 |
205 | L>V | No |
ClinGen gnomAD |
|
|
CA377268172 rs1378620806 |
206 | I>S | No |
ClinGen gnomAD |
|
|
CA209693194 rs1042952474 |
208 | A>T | No |
ClinGen Ensembl |
|
|
CA5562830 rs144683137 |
209 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5562831 rs754962481 |
212 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA377268229 rs1346661728 |
213 | V>A | No |
ClinGen gnomAD |
|
|
CA5562833 rs753078158 |
214 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287472049 CA377268240 |
215 | T>I | No |
ClinGen gnomAD |
|
|
rs727505216 CA185411 RCV000156713 |
217 | N>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1487271125 COSM920473 CA377268253 |
217 | N>S | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1487271125 CA377268252 |
217 | N>T | No |
ClinGen gnomAD |
|
|
CA377268264 rs1192467361 |
219 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA209694058 rs950610336 |
221 | Q>E | No |
ClinGen TOPMed |
|
|
rs1301421328 CA377268297 |
223 | I>M | No |
ClinGen TOPMed |
|
|
CA209694064 rs936254414 |
223 | I>T | No |
ClinGen gnomAD |
|
|
rs1054638463 CA209694069 |
224 | E>V | No |
ClinGen Ensembl |
|
|
rs146910007 RCV000183990 COSM1349101 CA335613 |
226 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1176154046 CA377268324 |
227 | L>F | No |
ClinGen TOPMed |
|
|
COSM1349102 rs749628307 CA5562835 |
230 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1400174530 CA377268347 |
231 | N>H | No |
ClinGen gnomAD |
|
|
CA377268349 COSM1474780 rs1194024528 |
231 | N>S | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1352094721 CA377268361 |
233 | T>A | No |
ClinGen gnomAD |
|
|
CA377268369 rs757655707 |
234 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs17853882 VAR_037667 CA209694086 |
234 | V>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs778383501 CA5562837 |
235 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs61731175 CA209694095 |
237 | M>I | No |
ClinGen Ensembl |
|
|
rs745549651 CA5562838 |
240 | E>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000242063 rs886038819 CA10587703 |
244 | I>K | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA377268445 rs1420120078 |
244 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs886038819 CA377268449 |
244 | I>T | No |
ClinGen TOPMed |
|
|
CA5562840 rs779616187 |
245 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs794729194 CA335647 RCV000184006 |
246 | R>C | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs545372383 CA209694116 |
247 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA377268503 rs1338152524 |
249 | Q>* | No |
ClinGen TOPMed |
|
|
rs768692845 CA5562841 |
249 | Q>R | No |
ClinGen ExAC |
|
|
CA377268554 rs1219124213 |
253 | W>R | No |
ClinGen gnomAD |
|
|
CA377268615 rs1229013198 |
257 | A>T | No |
ClinGen TOPMed |
|
|
rs769652323 CA5562843 |
258 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA5562862 rs150443513 |
263 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1372933618 CA377269482 |
267 | K>R | No |
ClinGen gnomAD |
|
|
CA377269494 rs1475602649 |
268 | R>T | No |
ClinGen gnomAD |
|
|
CA5562865 rs762710405 |
269 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5562867 rs760702936 |
270 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs764174200 CA5562868 |
271 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5562869 rs754279934 |
273 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA5562870 rs762380935 |
273 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5562871 rs765726337 |
275 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs750778483 CA5562872 |
276 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA377269642 rs1208537301 |
277 | L>P | No |
ClinGen TOPMed |
|
|
CA5562873 rs766091503 |
282 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000038840 rs397517246 CA136811 |
285 | R>H | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA377269753 rs397517246 |
285 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA377269804 rs138270989 |
288 | S>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs138270989 CA377269800 |
288 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA377269850 rs1302101209 |
291 | P>A | No |
ClinGen TOPMed |
|
|
rs763330709 CA5562890 |
292 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA377270019 rs1156266096 |
294 | A>D | No |
ClinGen gnomAD |
|
|
CA5562891 rs766861514 |
296 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA377270075 rs1458285999 |
297 | Q>R | No |
ClinGen gnomAD |
|
|
rs1227213967 CA377270115 |
300 | R>G | No |
ClinGen TOPMed |
|
|
rs1295212155 CA377270139 |
301 | Q>R | No |
ClinGen gnomAD |
|
|
rs1287184799 CA377270233 |
306 | A>T | No |
ClinGen gnomAD |
|
|
CA5562892 rs751189080 |
308 | K>I | No |
ClinGen ExAC |
|
|
rs754672134 CA5562893 |
310 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs761311084 CA209697876 |
313 | C>Y | No |
ClinGen Ensembl |
|
|
CA5562894 rs767337343 |
314 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs143944164 CA377270407 |
316 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5562895 rs143944164 |
316 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777722727 CA5562896 |
317 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1322859960 CA377270465 |
318 | R>H | No |
ClinGen gnomAD |
|
|
CA377270468 rs1247716012 |
319 | R>G | No |
ClinGen gnomAD |
|
|
CA5562897 rs757012350 |
323 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377270629 rs1208970610 |
328 | L>P | No |
ClinGen gnomAD |
|
|
CA377270665 rs1334671031 |
331 | M>T | No |
ClinGen gnomAD |
|
|
CA5562898 rs778677392 |
333 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000619820 rs1554817370 |
334 | Q>missing | No |
ClinVar dbSNP |
|
|
rs565546734 CA5562899 |
336 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5562900 rs768848417 |
336 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA335619 RCV000183992 rs759961842 COSM1349103 |
339 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA377270752 rs1181109595 |
339 | R>H | No |
ClinGen gnomAD |
|
|
CA377270754 rs1181109595 |
339 | R>P | No |
ClinGen gnomAD |
|
|
rs372655194 CA209697925 |
340 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs374928228 CA5562903 |
340 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1415541104 CA377270773 |
341 | R>T | No |
ClinGen gnomAD |
|
|
CA5562916 rs757177287 |
344 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA377272218 rs778875353 |
344 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs973002111 CA209700331 |
345 | S>F | No |
ClinGen Ensembl |
|
|
rs1375388806 CA377272223 |
345 | S>P | No |
ClinGen gnomAD |
|
|
CA5562918 rs566961713 |
347 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769843518 CA5562922 |
349 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5562924 rs749442700 |
350 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1277485914 CA377272358 |
353 | A>V | No |
ClinGen gnomAD |
|
|
rs1485057884 CA377272376 |
355 | Q>* | No |
ClinGen gnomAD |
|
|
rs141503166 CA209700350 |
356 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1243756584 CA377272449 |
359 | G>C | No |
ClinGen gnomAD |
|
|
rs1474329445 CA377272457 |
359 | G>V | No |
ClinGen gnomAD |
|
|
CA377272518 rs1410359104 |
364 | T>S | No |
ClinGen TOPMed |
|
|
rs1421516056 CA377272609 |
369 | N>D | No |
ClinGen TOPMed |
|
|
CA377272634 rs1185674557 |
370 | A>S | No |
ClinGen gnomAD |
|
|
rs770954415 CA5562926 |
372 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs377289804 CA5562927 |
372 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5562928 rs772585321 |
374 | L>P | No |
ClinGen ExAC |
|
|
CA377272702 rs1591701541 |
375 | E>K | No |
ClinGen Ensembl |
|
|
CA377272734 rs1420358609 |
376 | A>D | No |
ClinGen gnomAD |
|
|
rs775148594 CA5562929 |
378 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA377272837 rs1444969965 |
383 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA377272864 rs1564528011 |
384 | I>T | No |
ClinGen Ensembl |
|
|
RCV000172499 RCV000183993 CA238355 rs200342284 |
386 | K>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs776129187 CA377272949 |
389 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM920476 rs776129187 CA209700385 |
389 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA377272986 rs1346591613 |
390 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs377228795 CA5562951 |
399 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000152644 RCV000172501 rs201361282 CA179602 |
400 | G>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5562952 rs766393966 |
402 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377273121 rs1289312588 |
402 | P>S | No |
ClinGen TOPMed |
|
|
rs1474874830 CA377273128 |
403 | E>G | No |
ClinGen gnomAD |
|
|
CA377273125 COSM920477 rs757770090 |
403 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA209700780 rs757770090 |
403 | E>Q | No |
ClinGen TOPMed |
|
|
CA377273160 rs1165849260 |
407 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA377273163 rs1440789619 |
408 | I>V | No |
ClinGen gnomAD |
|
|
rs202005455 CA5562956 |
409 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1018998675 CA209700801 |
409 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
RCV000478502 CA16618986 rs1064796607 |
410 | G>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA377273170 rs1413008162 |
410 | G>S | No |
ClinGen TOPMed |
|
|
RCV000183995 CA335622 rs794729190 |
413 | A>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs746004026 CA5562958 |
416 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147566238 CA5562961 |
418 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769092143 CA5562962 |
420 | E>K | No |
ClinGen ExAC |
|
|
rs1281442445 CA377273273 |
426 | K>E | No |
ClinGen TOPMed |
|
|
rs1312888883 CA377273302 |
430 | D>N | No |
ClinGen gnomAD |
|
|
CA377273311 rs1412929619 |
431 | I>V | No |
ClinGen gnomAD |
|
|
CA335628 RCV000183997 rs754046223 |
433 | R>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5562969 rs757541730 |
434 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5562971 rs150016624 |
438 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs150016624 CA209700911 |
438 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1264504325 CA377273354 |
439 | S>P | No |
ClinGen gnomAD |
|
|
rs747568915 CA5562973 |
445 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA183834 rs727504675 RCV000155943 |
446 | A>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1173871364 CA377273415 |
449 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs755234443 CA5562974 |
449 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs755234443 RCV000481865 CA16618987 |
449 | R>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA377273420 rs1428422009 |
450 | R>T | No |
ClinGen TOPMed |
|
|
CA209702691 rs1015527957 |
452 | G>R | No |
ClinGen gnomAD |
|
|
rs755499383 CA5562996 |
452 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1331767225 CA377273655 |
454 | G>E | No |
ClinGen TOPMed |
|
|
rs781698782 CA5562997 |
459 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1335966343 CA377273692 COSM427928 |
460 | R>* | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1335966343 CA377273691 |
460 | R>G | No |
ClinGen gnomAD |
|
|
rs753026034 CA5562998 |
460 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA377273706 rs1274689544 |
463 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs200710859 CA5563001 |
464 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200710859 RCV000038794 CA136691 |
464 | K>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs770278621 CA5563002 |
465 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA5563003 rs778480026 |
468 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166750301 CA377273749 |
470 | L>Q | No |
ClinGen gnomAD |
|
|
rs1461179367 CA377273769 |
473 | L>V | No |
ClinGen gnomAD |
|
|
rs772617847 CA209702781 |
474 | Q>H | No |
ClinGen Ensembl |
|
|
rs768588739 CA5563006 |
475 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA377273786 rs1179637732 |
476 | K>E | No |
ClinGen TOPMed |
|
|
rs773244741 CA5563007 |
476 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA377273806 rs1271589037 |
479 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs369055603 CA5563009 |
479 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA209702804 rs531596507 |
482 | A>G | No |
ClinGen Ensembl |
|
|
CA377273833 rs751634052 |
483 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377273854 rs1251509217 |
486 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs866026266 CA209702816 |
487 | A>T | No |
ClinGen Ensembl |
|
|
rs1193534102 CA377273861 |
488 | K>E | No |
ClinGen gnomAD |
|
|
rs1449290312 CA377273868 |
489 | A>T | No |
ClinGen TOPMed |
|
|
rs753220379 CA5563013 |
492 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1325002119 CA377273933 |
498 | E>D | No |
ClinGen TOPMed |
|
|
CA377273954 rs1203105475 |
501 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5563015 rs778114927 |
501 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs201808867 CA5563017 |
502 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754221616 CA5563016 |
502 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA377273983 rs1460546859 |
506 | N>D | No |
ClinGen gnomAD |
|
|
rs1452209497 CA377273995 |
507 | P>L | No |
ClinGen TOPMed |
|
|
CA377273991 rs1160021302 |
507 | P>S | No |
ClinGen TOPMed |
|
|
CA377274002 rs1297624955 |
509 | V>M | No |
ClinGen gnomAD |
|
|
RCV000521454 CA5563021 rs367568441 |
512 | R>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA5563022 rs367568441 |
512 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757009736 CA5563038 |
520 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377722209 CA5563037 |
520 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA185493 RCV000645330 RCV000156752 rs548487697 |
525 | E>D | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA377274256 rs1269514419 |
525 | E>K | No |
ClinGen TOPMed |
|
|
rs1171795842 CA377274279 |
526 | G>E | No |
ClinGen gnomAD |
|
|
RCV000183999 CA335634 rs746095066 |
528 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA377274353 rs1591706374 |
530 | A>G | No |
ClinGen Ensembl |
|
|
rs772348187 CA5563040 |
533 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1342547968 CA377274452 |
535 | G>E | No |
ClinGen TOPMed |
|
|
RCV000172504 CA238364 rs200624351 |
536 | P>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5563042 rs370058111 |
536 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5563043 rs370058111 |
536 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1371212023 CA377274504 |
538 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs533622785 CA5563045 |
540 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533622785 CA377274566 |
540 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5563047 rs758114136 |
542 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs745748680 CA5563049 |
543 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745748680 CA5563048 |
543 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207840535 CA377274730 |
546 | D>N | No |
ClinGen gnomAD |
|
|
rs1274067747 CA377274747 |
546 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA261755 RCV000038802 rs397517234 |
547 | R>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs748044427 CA5563050 COSM920479 |
547 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA377274773 rs1470538710 |
548 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
RCV000438463 CA16605914 rs1057524278 |
551 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1466981444 CA377274871 |
552 | T>A | No |
ClinGen TOPMed |
|
|
CA209703522 rs905162041 |
554 | Q>R | No |
ClinGen TOPMed |
|
|
rs1166030670 CA377274959 |
556 | A>S | No |
ClinGen gnomAD |
|
|
CA377275032 rs1321164216 |
561 | R>G | No |
ClinGen gnomAD |
|
|
rs1477499984 CA377275068 |
563 | E>K | No |
ClinGen TOPMed |
|
|
CA209703534 rs374538684 |
564 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5563054 rs374538684 |
564 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5563055 rs376620290 |
566 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1591706497 CA377275120 |
566 | S>R | No |
ClinGen Ensembl |
|
|
rs1440942210 CA377275126 |
567 | P>S | No |
ClinGen TOPMed |
|
|
rs794729191 CA377275160 |
570 | R>G | No |
ClinGen gnomAD |
|
|
rs1227574438 CA377275162 |
570 | R>Q | No |
ClinGen gnomAD |
|
|
rs1564530025 CA377275177 |
571 | A>V | No |
ClinGen Ensembl |
|
|
rs777130723 CA5563057 |
573 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5563058 rs574643494 |
574 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA377275238 rs1181880110 |
575 | Q>* | No |
ClinGen gnomAD |
|
|
CA377275326 rs1438495738 |
579 | S>F | No |
ClinGen gnomAD |
|
|
rs1403793938 CA377276400 |
582 | D>A | No |
ClinGen TOPMed |
|
|
CA377276420 rs1367547253 |
584 | K>Q | No |
ClinGen gnomAD |
|
|
CA377276451 rs774076269 |
586 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA5563081 rs774076269 |
586 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5563080 rs770778046 |
586 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5563084 rs187247459 |
589 | E>K | No |
ClinGen 1000Genomes ExAC |
|
|
CA377276502 rs1313438627 |
590 | A>T | No |
ClinGen gnomAD |
|
|
CA377276525 rs1176510604 |
591 | M>I | No |
ClinGen TOPMed |
|
|
CA377276514 rs1377142745 |
591 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA377276541 rs1470494454 |
592 | T>I | No |
ClinGen TOPMed |
|
|
rs1373810182 CA377276598 |
597 | D>H | No |
ClinGen gnomAD |
|
|
CA5563085 rs763977443 |
598 | V>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000038806 rs397517235 CA136724 |
598 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA377276667 rs1235063893 |
601 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5563088 rs753788366 |
603 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5563087 rs753788366 |
603 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5563086 rs753788366 |
603 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs754470470 CA209704306 |
604 | T>A | No |
ClinGen gnomAD |
|
|
CA335640 rs794729192 RCV000184002 |
607 | K>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA377276755 rs1591707552 |
609 | L>F | No |
ClinGen Ensembl |
|
|
rs1591707558 CA377276791 |
612 | A>V | No |
ClinGen Ensembl |
|
|
CA5563091 rs781520177 |
613 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781520177 CA377276801 |
613 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377276806 rs142695754 |
614 | T>A | No |
ClinGen ESP TOPMed |
|
|
rs748140302 CA5563092 |
614 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209704330 rs142695754 |
614 | T>S | No |
ClinGen ESP TOPMed |
|
|
rs771628544 RCV000251751 CA10587704 |
619 | A>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5563095 rs374309823 |
621 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1305636801 CA377276933 |
623 | E>K | No |
ClinGen gnomAD |
|
|
CA5563098 rs775238596 |
624 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251173111 CA377277343 |
627 | D>N | No |
ClinGen gnomAD |
|
|
CA209706129 rs748683598 |
629 | R>G | No |
ClinGen Ensembl |
|
|
rs1411040526 CA377277437 |
631 | A>G | No |
ClinGen gnomAD |
|
|
rs746660046 CA5563117 |
634 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA136736 rs71579374 |
636 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761356586 CA5563119 |
639 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs886047219 CA209706167 |
640 | L>V | No |
ClinGen gnomAD |
|
|
CA5563120 rs765123545 |
641 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5563123 rs766197411 |
645 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751374648 CA5563124 |
646 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA377260657 rs1243442389 |
649 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1203001120 CA377260678 |
651 | G>A | No |
ClinGen gnomAD |
|
|
rs753936921 CA5563127 |
651 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591709946 CA377260712 |
654 | N>S | No |
ClinGen Ensembl |
|
|
CA5563129 rs779238311 |
657 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5563130 rs750946056 |
657 | T>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000156401 CA184767 rs372691803 |
658 | V>A | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1472488654 CA377260763 |
659 | E>K | No |
ClinGen TOPMed |
|
|
CA377260832 rs1254338251 |
662 | Q>R | No |
ClinGen gnomAD |
|
|
CA5563131 rs780455788 |
665 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1233764253 CA377260883 |
667 | T>A | No |
ClinGen TOPMed |
|
|
rs780856981 CA5563134 RCV000414701 |
669 | R>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5563135 rs759771302 |
669 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs932316455 CA209692420 |
673 | P>H | No |
ClinGen gnomAD |
|
|
CA5563156 rs770869561 |
677 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1276378916 CA377261156 |
684 | R>M | No |
ClinGen gnomAD |
|
|
RCV000498381 rs730880249 CA377261155 |
684 | R>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1457530537 CA377261188 |
687 | G>R | No |
ClinGen TOPMed |
|
|
RCV000424477 rs1057524826 CA16605688 |
690 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA377261239 rs1216182062 |
692 | Y>H | No |
ClinGen gnomAD |
|
|
CA5563160 rs762082739 |
698 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1564532404 CA377261347 |
700 | N>K | No |
ClinGen Ensembl |
|
|
CA209693646 rs1031537705 |
701 | Q>* | No |
ClinGen TOPMed |
|
|
CA5563161 rs765427693 |
701 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1479037833 CA377261398 |
704 | D>E | No |
ClinGen gnomAD |
|
|
CA377261408 rs1200340979 |
705 | N>S | No |
ClinGen TOPMed |
|
|
CA209694082 rs374737519 |
713 | V>M | No |
ClinGen ESP |
|
|
CA5563173 rs748791215 |
714 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1348791146 CA377261608 |
717 | I>T | No |
ClinGen gnomAD |
|
|
CA377261641 RCV000617253 rs1554818881 |
720 | K>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1348448270 CA377261657 |
721 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5563177 rs144717954 |
728 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs957518574 CA209694097 |
729 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA377261741 rs1226814145 |
729 | A>V | No |
ClinGen gnomAD |
|
|
rs1306632174 CA377261751 |
730 | I>T | No |
ClinGen TOPMed |
|
|
rs1289313770 CA377261758 |
731 | K>E | No |
ClinGen gnomAD |
|
|
rs1426976613 CA377262068 |
735 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5563178 rs768613265 |
736 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA377262092 rs1207968792 |
737 | C>R | No |
ClinGen gnomAD |
|
|
rs1377171552 CA377262099 |
737 | C>Y | No |
ClinGen TOPMed |
|
|
rs775403638 CA5563179 |
740 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209694105 rs376448550 |
743 | N>K | No |
ClinGen Ensembl |
|
|
rs1591713099 CA377262169 RCV000994450 |
744 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs746821947 RCV000488120 CA5563180 |
746 | P>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs770019329 CA5563181 |
747 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1237709097 CA377262244 |
749 | L>P | No |
ClinGen gnomAD |
|
|
CA209694113 rs868331677 |
751 | A>S | No |
ClinGen Ensembl |
|
|
rs1473607141 CA377262262 |
751 | A>V | No |
ClinGen gnomAD |
|
|
CA377262278 rs1172828725 |
753 | A>E | No |
ClinGen gnomAD |
|
|
CA5563182 rs773331333 |
756 | I>M | No |
ClinGen ExAC gnomAD |
|
|
RCV000498883 rs1554818898 CA377262312 |
756 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA377262333 rs1429797708 |
758 | R>C | No |
ClinGen gnomAD |
|
|
CA5563183 rs371970354 |
758 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5563184 rs371970354 |
758 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774477633 CA5563185 |
759 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377262347 rs1409007753 |
760 | A>T | No |
ClinGen gnomAD |
|
|
CA377262367 rs1334643090 |
762 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1446145035 CA377262402 |
766 | V>M | No |
ClinGen gnomAD |
|
|
CA377262430 rs1342992549 |
768 | K>N | No |
ClinGen gnomAD |
|
|
CA5563188 rs566257885 |
769 | R>G | No |
ClinGen 1000Genomes ExAC |
|
|
rs774113930 CA209694134 |
769 | R>K | No |
ClinGen Ensembl |
|
|
rs1591713178 CA377262465 |
771 | V>G | No |
ClinGen Ensembl |
|
|
rs1212206964 CA377262519 |
776 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA377262554 rs1449606870 |
778 | K>N | No |
ClinGen TOPMed |
|
|
COSM3807723 rs1441017178 CA377262573 |
780 | R>H | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1185021423 CA377262578 |
781 | E>K | No |
ClinGen gnomAD |
|
|
CA377262603 rs1236482485 |
783 | V>L | No |
ClinGen gnomAD |
|
|
CA5563193 rs778554042 |
785 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209694172 rs981215868 |
787 | S>F | No |
ClinGen TOPMed |
|
|
rs552164143 CA5563198 |
791 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773421444 CA5563199 |
793 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000152649 rs767809 |
796 | P>= | No |
ClinVar dbSNP |
|
|
CA5563200 rs749471739 |
796 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA377262775 rs749471739 |
796 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA377262787 rs1564532969 |
797 | M>T | No |
ClinGen Ensembl |
|
|
CA5563201 COSM1675360 rs774388320 |
797 | M>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759650076 CA5563202 |
798 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209694216 rs775881749 |
799 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5563204 rs775881749 |
799 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5563203 rs150069336 |
799 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA209694223 rs919509789 RCV000620283 |
800 | D>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs761040547 CA5563205 |
801 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5563208 rs754294941 |
803 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5563209 rs765022798 |
805 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs751458490 CA335597 RCV000183979 |
810 | D>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs568363284 CA5563213 |
811 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5563228 rs762488785 |
813 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs754845064 CA5563230 |
815 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754845064 CA377263542 |
815 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377263563 rs1245049090 |
819 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1194075584 COSM920482 CA377263586 |
822 | Y>C | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA5563233 rs755922886 |
822 | Y>H | No |
ClinGen ExAC |
|
|
rs759202535 CA080873 |
823 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA335601 rs779047174 |
823 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140381835 CA5563234 |
824 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1356847265 CA377263685 |
833 | E>Q | No |
ClinGen TOPMed |
|
|
rs779983509 CA5563235 |
834 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA377263706 rs1179660936 |
835 | F>V | No |
ClinGen gnomAD |
|
|
rs1313842676 CA377263729 |
837 | P>S | No |
ClinGen TOPMed |
|
|
CA5563236 rs747152761 |
839 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA209695452 rs747152761 |
839 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA377263755 rs1424671173 |
839 | E>V | No |
ClinGen gnomAD |
|
|
RCV000183982 CA238367 rs150385900 RCV000244937 RCV000172506 |
841 | D>H | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
RCV000483232 rs764302249 CA5563239 |
843 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA377263804 rs764302249 |
843 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000523890 CA5563241 rs372711612 |
847 | P>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs960105711 CA209695501 |
848 | D>G | No |
ClinGen TOPMed |
|
|
rs1363960766 CA377263859 |
849 | L>F | No |
ClinGen TOPMed |
|
|
rs766109034 CA5563242 |
853 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs992716111 CA209695509 |
853 | R>Q | No |
ClinGen gnomAD |
|
|
rs551463686 CA5563262 |
854 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5563263 rs767056229 |
859 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs765475780 CA5563264 |
860 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA209696638 rs1024545153 |
861 | P>S | No |
ClinGen Ensembl |
|
|
rs1209592092 CA377264137 |
866 | P>R | No |
ClinGen gnomAD |
|
|
CA5563266 rs764067327 |
867 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA209696651 rs960636997 |
868 | G>S | No |
ClinGen TOPMed |
|
|
rs991793227 CA209696659 |
870 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1591716011 CA377264189 |
871 | P>S | No |
ClinGen Ensembl |
|
|
CA5563267 rs753591066 |
872 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs570362710 CA5563270 |
877 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1355563523 CA377264231 |
877 | P>S | No |
ClinGen TOPMed |
|
|
CA209696685 rs971661268 |
881 | K>E | No |
ClinGen Ensembl |
|
|
CA209696694 rs868056219 |
890 | A>V | No |
ClinGen Ensembl |
|
|
RCV000152650 CA179615 rs727503740 |
891 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs749563819 CA5563275 |
895 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA209696724 rs921055002 |
897 | P>L | No |
ClinGen Ensembl |
|
|
CA377264392 rs771337725 |
899 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5563276 rs771337725 |
899 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs779345627 CA209696728 |
903 | R>T | No |
ClinGen Ensembl |
|
|
rs1220862769 CA377264422 |
904 | Q>E | No |
ClinGen gnomAD |
|
|
CA377264425 rs1591716090 |
904 | Q>R | No |
ClinGen Ensembl |
|
|
rs745528944 CA5563278 |
907 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA209696740 rs375595550 |
910 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5563279 rs375595550 |
910 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377264487 rs1270194851 |
913 | S>A | No |
ClinGen gnomAD |
|
|
rs776188207 CA5563300 |
916 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5563302 rs769665651 |
918 | I>T | No |
ClinGen ExAC |
|
|
CA209697685 rs925649178 |
919 | P>S | No |
ClinGen TOPMed |
|
|
CA5563304 rs764278411 |
921 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375254227 CA209697694 |
921 | A>V | No |
ClinGen ESP TOPMed |
|
|
rs1036173576 CA209697698 |
922 | E>D | No |
ClinGen Ensembl |
|
|
rs1207917397 CA377264567 |
924 | G>D | No |
ClinGen gnomAD |
|
|
rs1343574910 CA377264564 |
924 | G>S | No |
ClinGen gnomAD |
|
|
CA377264576 rs1437591111 |
925 | I>M | No |
ClinGen gnomAD |
|
|
CA5563308 rs368113653 |
929 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs550741064 CA5563310 |
933 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5563311 rs750750224 |
934 | A>T | No |
ClinGen ExAC gnomAD |
|
|
VAR_035102 rs16931179 CA136752 |
934 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1361057797 CA377264639 |
936 | A>P | No |
ClinGen gnomAD |
|
|
rs1314540118 CA377264645 |
937 | A>T | No |
ClinGen gnomAD |
|
|
rs2131956 RCV000152651 |
938 | G>= | No |
ClinVar dbSNP |
|
|
rs1591718131 CA377264657 |
939 | F>V | No |
ClinGen Ensembl |
|
|
rs1018299872 CA209697739 |
940 | P>L | No |
ClinGen Ensembl |
|
|
CA5563316 rs375627694 |
942 | P>H | No |
ClinGen ESP ExAC |
|
|
rs1268884742 CA377264676 |
942 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA238536 rs71579375 VAR_035103 |
943 | P>A | No |
ClinGen UniProt ESP TOPMed dbSNP |
|
|
CA5563317 rs71579375 |
943 | P>T | No |
ClinGen ESP TOPMed |
|
|
CA5563319 rs773050457 |
945 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs770857763 CA377264730 |
949 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377264731 rs1174019524 |
950 | E>K | No |
ClinGen gnomAD |
|
|
COSM920486 CA5563321 rs774356864 |
951 | P>S | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5563322 rs367805257 |
952 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs367805257 CA209697786 |
952 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1564534993 CA377264754 |
954 | L>M | No |
ClinGen Ensembl |
|
|
rs776741969 CA5563323 |
955 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs761830073 CA5563324 |
956 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1468472098 CA377264778 |
958 | S>P | No |
ClinGen gnomAD |
|
|
rs751966871 CA5563329 |
959 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA377264797 rs1316850168 |
961 | P>A | No |
ClinGen gnomAD |
|
|
CA5563330 rs754591130 |
961 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377264804 rs1488842009 |
962 | V>A | No |
ClinGen TOPMed |
|
|
CA377264839 rs1262067425 |
968 | A>T | No |
ClinGen gnomAD |
|
|
rs534101808 CA5563338 |
969 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs534101808 CA5563337 COSM1349109 |
969 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA5563340 rs761884758 |
970 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5563339 rs776730962 |
970 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA5563341 rs765226093 |
972 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs767325003 CA5563342 |
975 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377264890 rs1302077212 |
977 | A>P | No |
ClinGen TOPMed |
|
|
rs1398667282 CA377264909 |
980 | W>R | No |
ClinGen gnomAD |
|
|
CA209697882 rs969075082 |
983 | K>T | No |
ClinGen Ensembl |
|
|
rs1356640375 CA377266239 |
984 | G>D | No |
ClinGen TOPMed |
|
|
CA377266259 rs1163048483 |
985 | N>S | No |
ClinGen TOPMed |
|
|
rs1309093890 CA377266346 |
990 | A>S | No |
ClinGen gnomAD |
|
|
rs759883391 CA5563361 |
992 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1591719960 RCV000994452 CA377266394 |
993 | R>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA377266462 rs1244799500 |
996 | L>R | No |
ClinGen gnomAD |
|
|
rs1317093016 CA377266477 |
998 | M>V | No |
ClinGen gnomAD |
|
|
CA377266606 rs1085307604 RCV000488968 |
1003 | R>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs753166628 CA5563363 |
1003 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5563364 rs760225820 |
1005 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA377266653 RCV000587019 rs1554819630 |
1007 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs763848963 CA5563365 |
1009 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1481477956 CA377266720 |
1011 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5563368 rs756849548 |
1017 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA5563369 rs756849548 |
1017 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA377266873 rs1383458917 |
1020 | K>R | No |
ClinGen gnomAD |
|
|
CA377266888 rs1444609170 |
1021 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs758417927 CA5563370 |
1023 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs959353320 CA209699048 |
1028 | E>A | No |
ClinGen Ensembl |
|
|
rs1591720063 CA377266982 |
1028 | E>K | No |
ClinGen Ensembl |
|
|
RCV000038822 CA136770 rs397517238 |
1031 | R>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA335604 rs746857871 |
1031 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA377267063 rs543501836 |
1035 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5563374 rs749303911 |
1038 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273293 rs727503741 RCV000152653 |
1039 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs992189738 CA209699079 |
1046 | R>K | No |
ClinGen Ensembl |
|
|
rs777193704 CA5563429 |
1054 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA209699485 rs182756080 |
1054 | E>K | No |
ClinGen 1000Genomes |
|
|
RCV000156630 RCV000766495 CA273659 rs727505159 |
1055 | R>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs878973480 CA209699515 |
1055 | R>Q | No |
ClinGen gnomAD |
|
|
rs868088387 CA209699516 |
1057 | P>T | No |
ClinGen Ensembl |
|
|
CA377267411 rs1346426288 |
1059 | I>V | No |
ClinGen gnomAD |
|
|
CA377267451 rs1368077458 |
1064 | K>R | No |
ClinGen gnomAD |
|
|
CA209699527 rs918980324 |
1071 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766167366 CA5563433 |
1076 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000038825 rs397517241 COSM920489 CA136776 |
1076 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs933546041 CA209699547 |
1078 | N>K | No |
ClinGen TOPMed |
|
|
CA179622 rs727503742 RCV000152654 |
1079 | I>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA377267653 rs1490943193 |
1083 | E>K | No |
ClinGen gnomAD |
|
|
CA377267666 rs1197638416 |
1084 | S>P | No |
ClinGen gnomAD |
|
|
CA377267665 rs1197638416 |
1084 | S>T | No |
ClinGen gnomAD |
|
|
CA209699567 rs912858056 |
1085 | E>K | No |
ClinGen Ensembl |
|
|
CA5563468 rs770283441 |
1102 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA377268711 rs1591722958 |
1107 | R>Q | No |
ClinGen Ensembl |
|
|
rs778062413 CA5563469 |
1107 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA209701209 rs867976959 |
1111 | A>G | No |
ClinGen Ensembl |
|
|
CA5563470 rs773883360 |
1114 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA377268786 rs1290329529 |
1119 | D>Y | No |
ClinGen gnomAD |
|
|
rs952929205 CA209701221 |
1120 | A>T | No |
ClinGen Ensembl |
|
|
CA209701259 rs910885092 |
1125 | R>H | No |
ClinGen gnomAD |
|
|
CA377268865 rs1226232250 |
1131 | P>S | No |
ClinGen TOPMed |
|
|
CA377268871 rs1408431745 |
1132 | W>G | No |
ClinGen gnomAD |
2 associated diseases with P18206
[MIM: 611407]: Cardiomyopathy, dilated 1W (CMD1W)
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:11815424, ECO:0000269|PubMed:16236538}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 613255]: Cardiomyopathy, familial hypertrophic 15 (CMH15)
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:16712796}. 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:11815424, ECO:0000269|PubMed:16236538}. 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:16712796}. Note=The disease is caused by variants affecting the gene represented in this entry.
3 regional properties for P18206
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Vinculin, conserved site | 162 - 182 | IPR000633-1 |
| conserved_site | Vinculin, conserved site | 277 - 287 | IPR000633-2 |
| conserved_site | Vinculin, conserved site | 497 - 507 | IPR000633-3 |
Functions
25 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| brush border | The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. |
| cell-cell contact zone | Extended zone of intimate apposition between two cells containing one or more types of intercellular junctions, e.g., the intercalated disk of muscle. |
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| cell-substrate junction | A cell junction that forms a connection between a cell and the extracellular matrix. |
| costamere | Regular periodic sub membranous arrays of vinculin in skeletal and cardiac muscle cells, these arrays link Z-discs to the sarcolemma and are associated with links to extracellular matrix. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular vesicle | Any vesicle that is part of the extracellular region. |
| fascia adherens | A cell-cell junction that contains the transmembrane protein N-cadherin, which interacts with identical molecules from neighbouring cells to form a tight mechanical intercellular link; forms a large portion of the intercalated disc, the structure at which myofibrils terminate in cardiomyocytes. |
| ficolin-1-rich granule lumen | Any membrane-enclosed lumen that is part of a ficolin-1-rich granule. |
| 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). |
| inner dense plaque of desmosome | The desmosomal part containing the C-termini of desmoplakins which interact with the keratin intermediate filaments, serving to tether the intermediate filaments to the plasma membrane. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| outer dense plaque of desmosome | The desmosomal part containing plakoglobins, plakophilins, the N-termini of desmoplakins, as well as the cytoplasmic tails of the desmosomal cadherins, which together attach the plaque to the plasma membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| podosome | An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| sarcolemma | The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
| secretory granule lumen | The volume enclosed by the membrane of a secretory granule. |
| specific granule lumen | The volume enclosed by the membrane of a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase. |
| terminal web | An actin-rich cytoskeletal network located beneath the microvilli of the apical plasma membrane of polarized epithelial cells. In addition to actin filaments, the terminal web may contain actin-binding proteins, myosin motor proteins, and intermediate filaments. The terminal web can function as a contractile structure that influences the spatial distribution of microvilli as well as the development and morphogenesis of tissues containing polarized epithelial cells. |
| zonula adherens | A cell-cell adherens junction which forms a continuous belt near the apex of epithelial cells. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| alpha-catenin binding | Binding to catenin complex alpha subunit. |
| beta-catenin binding | Binding to a catenin beta subunit. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| dystroglycan binding | Binding to dystroglycan, a glycoprotein found in non-muscle tissues as well as in muscle tissues, often in association with dystrophin. The native dystroglycan cleaved into two non-covalently associated subunits, alpha (N-terminal) and beta (C-terminal). |
| structural molecule activity | The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
15 GO annotations of biological process
| Name | Definition |
|---|---|
| adherens junction assembly | The aggregation, arrangement and bonding together of a set of components to form an adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments. |
| apical junction assembly | The formation of an apical junction, a functional unit located near the cell apex at the points of contact between epithelial cells composed of the tight junction, the zonula adherens junction and the desmosomes, by the aggregation, arrangement and bonding together of its constituents. |
| axon extension | Long distance growth of a single axon process involved in cellular development. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| cell-matrix adhesion | The binding of a cell to the extracellular matrix via adhesion molecules. |
| epithelial cell-cell adhesion | The attachment of an epithelial cell to another epithelial cell via adhesion molecules. |
| lamellipodium assembly | Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell. |
| maintenance of blood-brain barrier | Maintaining the structure and function of the blood-brain barrier, thus ensuring specific regulated transport of substances (e.g. macromolecules, small molecules, ions) into the brain, and out of the brain into the blood circulation. |
| morphogenesis of an epithelium | The process in which the anatomical structures of epithelia are generated and organized. An epithelium consists of closely packed cells arranged in one or more layers, that covers the outer surfaces of the body or lines any internal cavity or tube. |
| negative regulation of cell migration | Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. |
| platelet aggregation | The adhesion of one platelet to one or more other platelets via adhesion molecules. |
| protein localization to cell surface | A process in which a protein is transported to, or maintained in, a location within the external part of the cell wall and/or plasma membrane. |
| regulation of establishment of endothelial barrier | Any process that modulates the frequency, rate or extent of establishment of endothelial barrier. |
| regulation of focal adhesion assembly | Any process that modulates the frequency, rate or extent of focal adhesion formation, the establishment and maturation of focal adhesions. |
| regulation of protein localization to adherens junction | Any process that modulates the frequency, rate or extent of protein localization to adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments. |
16 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3MHM6 | CTNNA1 | Catenin alpha-1 | Bos taurus (Bovine) | SS |
| P30997 | CTNNA2 | Catenin alpha-2 | Gallus gallus (Chicken) | SS |
| P12003 | VCL | Vinculin | Gallus gallus (Chicken) | EV |
| P35220 | alpha-Cat | Catenin alpha | Drosophila melanogaster (Fruit fly) | SS |
| P26232 | CTNNA2 | Catenin alpha-2 | Homo sapiens (Human) | SS |
| P35221 | CTNNA1 | Catenin alpha-1 | Homo sapiens (Human) | EV |
| Q9UI47 | CTNNA3 | Catenin alpha-3 | Homo sapiens (Human) | SS |
| P26231 | Ctnna1 | Catenin alpha-1 | Mus musculus (Mouse) | EV |
| Q61301 | Ctnna2 | Catenin alpha-2 | Mus musculus (Mouse) | EV |
| Q65CL1 | Ctnna3 | Catenin alpha-3 | Mus musculus (Mouse) | EV |
| Q64727 | Vcl | Vinculin | Mus musculus (Mouse) | SS |
| P26234 | VCL | Vinculin | Sus scrofa (Pig) | SS |
| P85972 | Vcl | Vinculin | Rattus norvegicus (Rat) | SS |
| P90947 | hmp-1 | Alpha-catenin-like protein hmp-1 | Caenorhabditis elegans | SS |
| A4IGI7 | ctnna2 | Catenin alpha-2 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| B7ZC77 | Ctnna2 | Catenin alpha-2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPVFHTRTIE | SILEPVAQQI | SHLVIMHEEG | EVDGKAIPDL | TAPVAAVQAA | VSNLVRVGKE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TVQTTEDQIL | KRDMPPAFIK | VENACTKLVQ | AAQMLQSDPY | SVPARDYLID | GSRGILSGTS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DLLLTFDEAE | VRKIIRVCKG | ILEYLTVAEV | VETMEDLVTY | TKNLGPGMTK | MAKMIDERQQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ELTHQEHRVM | LVNSMNTVKE | LLPVLISAMK | IFVTTKNSKN | QGIEEALKNR | NFTVEKMSAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| INEIIRVLQL | TSWDEDAWAS | KDTEAMKRAL | ASIDSKLNQA | KGWLRDPSAS | PGDAGEQAIR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QILDEAGKVG | ELCAGKERRE | ILGTCKMLGQ | MTDQVADLRA | RGQGSSPVAM | QKAQQVSQGL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DVLTAKVENA | ARKLEAMTNS | KQSIAKKIDA | AQNWLADPNG | GPEGEEQIRG | ALAEARKIAE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LCDDPKERDD | ILRSLGEISA | LTSKLADLRR | QGKGDSPEAR | ALAKQVATAL | QNLQTKTNRA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VANSRPAKAA | VHLEGKIEQA | QRWIDNPTVD | DRGVGQAAIR | GLVAEGHRLA | NVMMGPYRQD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LLAKCDRVDQ | LTAQLADLAA | RGEGESPQAR | ALASQLQDSL | KDLKARMQEA | MTQEVSDVFS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DTTTPIKLLA | VAATAPPDAP | NREEVFDERA | ANFENHSGKL | GATAEKAAAV | GTANKSTVEG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IQASVKTARE | LTPQVVSAAR | ILLRNPGNQA | AYEHFETMKN | QWIDNVEKMT | GLVDEAIDTK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SLLDASEEAI | KKDLDKCKVA | MANIQPQMLV | AGATSIARRA | NRILLVAKRE | VENSEDPKFR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EAVKAASDEL | SKTISPMVMD | AKAVAGNISD | PGLQKSFLDS | GYRILGAVAK | VREAFQPQEP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DFPPPPPDLE | QLRLTDELAP | PKPPLPEGEV | PPPRPPPPEE | KDEEFPEQKA | GEVINQPMMM |
| 910 | 920 | 930 | 940 | 950 | 960 |
| AARQLHDEAR | KWSSKPGIPA | AEVGIGVVAE | ADAADAAGFP | VPPDMEDDYE | PELLLMPSNQ |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| PVNQPILAAA | QSLHREATKW | SSKGNDIIAA | AKRMALLMAE | MSRLVRGGSG | TKRALIQCAK |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| DIAKASDEVT | RLAKEVAKQC | TDKRIRTNLL | QVCERIPTIS | TQLKILSTVK | ATMLGRTNIS |
| 1090 | 1100 | 1110 | 1120 | 1130 | |
| DEESEQATEM | LVHNAQNLMQ | SVKETVREAE | AASIKIRTDA | GFTLRWVRKT | PWYQ |