P20585
PR
Gene name |
MSH3 (DUC1, DUG) |
Protein name |
DNA mismatch repair protein Msh3 |
Names |
hMSH3, Divergent upstream protein, DUP, Mismatch repair protein 1, MRP1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4437 |
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
11 structures for P20585
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3THW | X-ray | 309 A | B | 219-1134 | PDB |
| 3THX | X-ray | 270 A | B | 219-1134 | PDB |
| 3THY | X-ray | 289 A | B | 219-1134 | PDB |
| 3THZ | X-ray | 430 A | B | 219-1134 | PDB |
| 8OLX | EM | 310 A | B | 1-1137 | PDB |
| 8OM5 | EM | 352 A | B | 1-1137 | PDB |
| 8OM9 | EM | 332 A | B | 1-1137 | PDB |
| 8OMA | EM | 329 A | B | 1-1137 | PDB |
| 8OMO | EM | 343 A | B | 1-1137 | PDB |
| 8OMQ | EM | 311 A | B | 1-1137 | PDB |
| AF-P20585-F1 | Predicted | AlphaFoldDB |
1600 variants for P20585
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002282384 RCV000821779 rs775714088 RCV001013981 |
1 | M>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818648 rs543854925 RCV001017957 |
1 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775714088 RCV000816198 RCV002422831 |
1 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002355101 RCV001070709 CA3327414 rs768844493 |
2 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001059419 RCV002418511 rs774455792 CA3327415 |
3 | R>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1391784097 CA360264753 RCV001244351 RCV002375293 |
3 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002393476 rs1749186228 RCV001210285 |
5 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1275624430 RCV002393546 CA360264776 RCV001224174 |
5 | K>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3327418 RCV002397593 rs563338833 RCV000796995 |
5 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001800890 RCV001012792 RCV000805347 rs374904719 CA3327419 |
6 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002424802 rs1313510221 RCV000794081 CA360264800 |
8 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002451437 rs369278563 RCV001205984 |
9 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002440650 rs369278563 RCV000797567 CA3327421 |
9 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA360264824 RCV001017899 rs1580537703 |
10 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002325540 rs372442835 CA3327422 RCV000801693 |
11 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001240520 rs1580537725 RCV003166501 |
12 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001053269 RCV002451221 rs969715234 |
12 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1254174829 RCV001323489 RCV002377408 |
16 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002339582 RCV001220271 CA360265126 rs1176057750 |
17 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1749189883 RCV001324727 RCV002350599 |
18 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3327426 RCV002348673 RCV001205761 rs780785898 |
19 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA360265156 rs1580537787 COSM1662858 RCV002352453 RCV000820855 |
20 | R>K | kidney Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002465865 RCV001306496 rs1749190564 RCV002375378 |
22 | A>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002365713 rs1353893324 RCV001056454 CA360265184 |
23 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs780517196 RCV001042443 CA3327429 RCV001026824 |
26 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002375191 rs1749192322 RCV001217113 |
30 | S>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002375002 rs1749192322 RCV001071074 |
30 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002372289 CA360265273 rs1212322787 RCV000813159 |
31 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA360265291 RCV002379603 RCV001067465 rs772142059 |
33 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA360265293 RCV001209776 RCV002379796 rs1489972731 |
33 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001050847 CA3327434 rs772142059 RCV002374904 |
33 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002406778 rs773158640 RCV000802127 CA3327435 |
36 | S>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001009835 RCV001220916 CA360265323 rs1470213668 |
36 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs759573423 CA121287710 RCV002424827 RCV000796937 |
37 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1184865419 RCV002458475 CA360265341 RCV000802703 |
38 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA360265343 RCV003153845 RCV002370129 rs1580538013 RCV000803297 |
39 | S>T | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000806736 RCV002336642 rs1049679865 |
40 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002360973 RCV000805138 rs763928973 CA3327440 |
41 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs763928973 RCV000800845 CA121287728 RCV001010447 |
41 | T>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002363128 rs763928973 CA360265368 RCV000815604 |
41 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1351260483 RCV002258108 RCV001051693 CA360265377 |
43 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA121287739 rs928378977 RCV001036683 RCV002379484 |
43 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs780457592 RCV000811256 RCV002381805 CA3327446 |
44 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3327445 RCV002379522 RCV001045224 rs756684854 |
44 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001203707 rs1229897499 RCV002379770 CA360265401 |
45 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001317776 RCV002384403 CA3327448 rs755350309 |
45 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA360265413 RCV001011257 rs748434336 RCV001364602 |
46 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001241431 CA121287759 rs1024354123 RCV002393623 |
47 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs773388641 CA3327452 RCV000792699 RCV001011581 |
48 | D>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001051213 CA3327453 CA121287769 rs747024539 RCV002256662 |
48 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000803335 rs1580538168 RCV002388498 |
49 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3327457 rs564858245 RCV001011754 RCV000936734 |
49 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3327455 RCV002390616 RCV000807326 rs775307118 |
49 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001233716 RCV002393585 rs1749198806 |
50 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001230082 RCV002402721 rs767048342 |
54 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs148550291 RCV002411785 RCV001212671 |
58 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3327486 rs201149584 RCV002409161 RCV000905511 RCV002282403 |
58 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000881733 RCV002255567 rs758595508 RCV002282395 RCV001287743 |
60 | A>missing | Hereditary cancer-predisposing syndrome Constitutional megaloblastic anemia with severe neurologic disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001796212 CA3327491 RCV001357722 RCV000786036 rs2001675 RCV001803978 RCV001013164 |
60 | A>P | Cavernous sinus meningioma Hereditary cancer-predisposing syndrome Constitutional megaloblastic anemia with severe neurologic disease [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
RCV001766792 rs758595508 RCV002256590 RCV000901599 |
60 | A>missing | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002255568 RCV000891396 RCV002465806 rs758960105 |
60 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002256636 RCV002298807 RCV002464349 rs758960105 RCV000973643 RCV001701277 RCV001001678 |
60 | A>missing | Lung cancer Hereditary cancer-predisposing syndrome Hepatocellular carcinoma Constitutional megaloblastic anemia with severe neurologic disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000899922 rs1574197 RCV001800902 CA3327497 RCV002256588 |
61 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
rs1554066076 RCV001692225 RCV000601631 RCV001613402 RCV002256416 |
61 | A>missing | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758718643 RCV001580107 RCV002256628 RCV000950405 |
62 | A>AAAPAA | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001351509 rs535056167 RCV002413832 |
62 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3327511 RCV002256612 rs774328125 RCV000935547 |
65 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1460806829 RCV001233847 RCV002418803 |
67 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061737 RCV002418521 rs1223470400 |
68 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360265643 rs577919981 RCV002422800 RCV000812751 |
69 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs765698219 RCV001014396 CA360265652 |
70 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA360265657 rs1182862032 RCV003166376 RCV000818464 |
70 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1749220995 RCV001302006 RCV002430103 |
72 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360265679 RCV001039364 rs1404800640 RCV001014485 |
72 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1580538949 RCV001014704 CA360265688 |
73 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001344407 RCV002431969 rs1395956642 |
73 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1279149249 RCV001053804 RCV002429657 |
74 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360265715 RCV002447438 RCV001351734 rs1322965420 |
76 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1322965420 RCV001035875 RCV002445211 |
76 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360265709 RCV002447153 rs1261331525 RCV001230699 |
76 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000804862 CA360265725 RCV002256527 rs1258205404 |
77 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1490449810 RCV000812566 RCV001015119 |
77 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214981 RCV003163646 rs1749219575 |
78 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360265734 rs1416322705 RCV001202809 RCV002429863 CA360265735 |
78 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001037636 rs1749224177 RCV003160227 |
78 | H>QV | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360265730 rs1313363087 RCV002445323 RCV001061079 |
78 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001035801 RCV002454265 CA360265738 rs1650697 RCV001224842 CA360265736 |
79 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3327529 RCV001015285 RCV001511632 VAR_020936 RCV000454914 rs1650697 RCV001285036 |
79 | I>V | Hereditary cancer-predisposing syndrome Constitutional megaloblastic anemia with severe neurologic disease [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1749285992 RCV002445327 RCV001062953 |
81 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002442689 CA360266108 rs1445966245 RCV000805363 |
82 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1749286503 RCV002451518 RCV001222817 |
85 | R>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748099353 RCV001055536 RCV002451227 |
86 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002436691 rs756190979 RCV001071416 |
87 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796314 rs772032731 CA3327555 RCV002458435 |
90 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1017222595 CA121288529 RCV001016717 RCV000795144 |
94 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001068268 RCV003160561 rs1749287670 |
94 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3327558 rs373436584 RCV001336466 RCV002257971 RCV000806227 |
96 | P>L | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001234759 RCV002436919 rs1749288232 |
98 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1580540688 RCV001017729 RCV001059313 |
100 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002440655 RCV000798334 rs776286022 CA3327559 |
100 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1749288569 RCV002436860 RCV001222156 |
101 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018444 rs1259647122 RCV001860910 |
103 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319579 CA3327560 rs759128700 RCV000802863 |
103 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002325573 rs149350323 RCV000808146 CA121288548 |
106 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs149350323 RCV001018944 RCV003153868 CA3327562 RCV000822585 |
106 | Q>E | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002322070 rs1344759224 CA360266466 RCV001221017 |
109 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001019779 rs987869162 CA360266479 |
110 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002447058 rs1749291435 RCV001204522 |
110 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019901 rs753775000 RCV000809610 |
111 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002255538 rs200930907 CA121288556 RCV000816572 |
112 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1424813265 RCV002453866 CA360266555 RCV000817975 |
115 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001296622 rs1456712758 CA360266587 RCV002451657 |
117 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3327568 rs372970933 RCV001020555 RCV000804346 |
118 | N>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003151247 CA3327569 RCV000970446 RCV001020634 rs144607594 |
119 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000821552 rs1580540783 RCV002453889 CA360266627 |
120 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA360263011 RCV002360927 rs1343040610 RCV000796698 |
127 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001206605 rs1749540617 RCV002356883 |
128 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3327596 rs374128221 RCV002352432 RCV000815683 |
129 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1749540955 RCV001297675 RCV002357090 |
134 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360263217 rs1580546588 RCV000809147 RCV002255531 |
137 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002327669 RCV001306167 rs1749541254 |
140 | F>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3327599 RCV001022079 rs143733332 RCV000820495 |
141 | C>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001040113 CA3327601 RCV002327271 rs138381683 |
143 | D>N | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs138381683 RCV002327363 RCV001069780 CA3327602 |
143 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000804358 rs966254697 RCV002332639 CA121290959 |
144 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA360263386 RCV002256532 RCV000809148 rs1580546606 |
145 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002332700 RCV000820203 rs977366961 CA121290969 |
147 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001350725 RCV002329344 rs1749542699 |
149 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA121290978 RCV000798020 RCV002332607 rs924517772 |
149 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA360263483 rs1580546641 RCV002332689 RCV000817546 |
150 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1247673673 RCV003166724 RCV001304573 CA360263485 |
150 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1580546655 RCV000796608 RCV002334487 |
154 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1348473206 RCV002341736 RCV001351476 |
157 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001022933 rs1348473206 RCV000802128 CA360263653 |
157 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3327610 RCV001044025 rs759608517 RCV001023110 |
161 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002348758 RCV001225557 rs752700097 |
164 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035340 rs1749544149 RCV002337081 |
165 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067923 CA3327614 rs767478058 RCV002339336 |
171 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3327615 RCV001023666 RCV000801641 rs750311213 |
173 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1749545371 RCV002348764 RCV001226912 |
176 | H>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000810476 CA3327622 RCV001023884 rs372073889 |
177 | A>T | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001023965 CA3327624 RCV000807910 rs569679162 |
178 | K>N | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs1432159214 RCV000798051 CA360264458 RCV002345766 |
183 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1580546779 CA360264452 RCV001024161 |
183 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3327631 RCV000798455 rs144012714 RCV002257959 |
185 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000819717 rs746425286 CA3327630 RCV002259030 |
185 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002348800 RCV001236864 rs144012714 |
185 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002348429 RCV001058198 rs746425286 |
185 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3327632 RCV002256649 RCV001039900 rs750366331 |
186 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3327634 RCV000792353 RCV001024340 rs147289289 RCV001766626 RCV002268282 |
188 | R>C | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001041718 RCV001024358 CA3327635 rs572193350 |
188 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001225754 CA360264570 rs1580546793 RCV001024380 |
189 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001024483 rs374133543 RCV000797608 CA3327636 |
192 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002268287 CA3327647 RCV000796714 rs749446559 RCV002256510 |
194 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000797056 RCV002352334 rs771721952 |
196 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3327649 rs768793171 RCV002354976 RCV001036185 |
196 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3327650 rs774402842 RCV001024633 RCV000821104 |
196 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA121292954 RCV001038748 rs768793171 RCV002354988 |
196 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002268409 rs1181059079 RCV001024675 CA360265886 RCV001339675 |
197 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001226416 RCV002356961 rs766194502 |
198 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001323368 RCV002357157 rs56122601 CA121292977 |
201 | S>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000813388 CA360265920 RCV002352421 rs759271567 |
201 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA360265936 RCV001024845 RCV001308860 rs1580550136 |
202 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002355008 RCV001043842 CA3327657 rs570136307 |
204 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA3327658 RCV001063492 rs535548394 RCV002355072 |
205 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002363163 rs1351133532 RCV000821535 CA360266436 |
208 | T>I | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002256647 rs781576430 CA3327661 RCV001037144 |
211 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001351864 RCV002246330 RCV002368156 rs756439715 |
212 | N>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs952650934 CA121293005 RCV001390095 RCV001025235 |
214 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs780393317 RCV002360940 RCV000798403 CA3327664 |
217 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs749571333 CA3327666 RCV002360939 RCV000798342 |
218 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002368154 RCV001351134 rs1473248894 CA360266646 |
219 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1749672498 RCV001302106 RCV002366137 |
219 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002363158 rs748207601 CA121293023 RCV000820879 |
224 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3327671 rs772141055 RCV000794159 RCV002360918 |
224 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3327670 RCV001025575 rs772141055 RCV001053967 |
224 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002268291 rs748207601 CA3327669 RCV001025561 RCV000802046 |
224 | R>W | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001302614 RCV003166705 rs1749673132 |
227 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002366087 RCV001248251 CA360266746 rs1406164760 |
228 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002360946 CA3327676 RCV000800224 rs763873895 |
230 | T>M | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.619e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000810465 rs201748817 CA3327678 RCV002259024 |
231 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3327683 RCV002372759 RCV001038468 rs371356175 |
235 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA3327684 rs371356175 RCV001309133 RCV002366157 |
235 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV002377437 RCV001339056 rs371356175 |
235 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002374996 RCV001070736 rs1749674160 |
235 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1749674272 RCV001305260 RCV002366148 |
236 | Y>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001026059 RCV000817561 CA3327686 rs375321647 |
237 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs779129001 CA3327685 RCV000820198 RCV002363152 |
237 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001862353 CA360266854 rs1187858656 RCV001026092 |
239 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002375286 rs1749674565 RCV001242708 |
241 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066446 CA121293105 rs939095293 RCV001026269 |
244 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002386399 rs558080525 CA3327689 RCV000796262 |
245 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002379626 RCV001070496 rs1749675199 |
247 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360266948 RCV001339141 rs1580550371 RCV001026568 |
252 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA360266957 RCV002390691 rs1434358007 RCV000820685 |
253 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1749675875 RCV002402926 RCV001337570 |
258 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002408974 RCV000820339 CA360267002 rs1580550400 |
259 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002416397 rs1749676270 RCV001053988 |
263 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766997264 RCV001043289 RCV002416355 CA3327696 |
264 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3327719 RCV002551990 RCV001027003 rs765814546 |
265 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1749739143 RCV001323482 RCV002418970 |
265 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001027086 rs201033017 RCV000808080 CA121293962 |
268 | R>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002411591 CA3327721 rs760032154 RCV001066174 |
268 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001027157 RCV000812272 CA3327722 rs376434836 |
270 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001304234 RCV002430111 rs758586643 CA3327724 |
273 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001230007 rs1749740029 RCV002429982 |
274 | C>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805271 RCV001027320 rs1228477054 CA360267114 |
275 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002436653 rs1749740358 RCV001064102 |
278 | H>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3327728 RCV001017841 RCV002268299 RCV000808717 rs202184623 |
282 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1213230231 RCV002412044 RCV001325487 CA360267186 |
285 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1249933854 CA360267191 RCV001319621 RCV002447353 |
286 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002370094 rs763478027 RCV000797549 |
292 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018274 rs1357719217 CA360267229 RCV000795398 |
292 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001326103 RCV002377418 rs933563870 |
293 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748004338 RCV003166149 CA3327733 RCV000797092 |
295 | R>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002370109 RCV000799630 rs771713082 CA3327734 RCV001292972 |
295 | R>H | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000795097 RCV002268284 rs201216791 RCV001018429 CA3327735 |
296 | R>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001052680 RCV002374915 rs746594395 CA360267254 |
296 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA360267256 rs1299382957 RCV000803041 RCV002370127 |
297 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1580551910 RCV001873310 CA360267266 RCV001018551 |
299 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1580551915 RCV002256536 CA360267271 RCV000812254 |
299 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002377409 RCV001323653 rs1749742847 |
300 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3327740 RCV002372349 RCV000821909 rs765742189 |
303 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002370077 RCV000794811 rs757164724 CA3327741 |
303 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA360267325 RCV002442710 RCV000809482 rs1580552222 |
306 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000814562 RCV001019059 rs746243211 CA3327751 |
308 | K>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002377397 rs1749751972 RCV001320299 |
313 | A>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002381819 rs149662421 RCV000814662 CA3327755 |
318 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001060703 RCV001019463 CA360267406 rs1580552250 |
318 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1749753063 RCV001346670 RCV002384480 |
322 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002384439 rs1046694553 RCV001326879 |
323 | S>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232105 CA121294267 RCV002379885 rs1046694553 |
323 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs887040509 RCV002381873 CA121294269 RCV000822733 |
324 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000814604 RCV001019740 rs1475633334 |
326 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001350048 RCV003169731 rs1749753546 |
327 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002379930 RCV001242427 rs776158265 CA3327757 |
327 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001019799 rs201336852 RCV001066429 CA3327759 |
328 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs745412081 RCV001019793 RCV002465787 RCV000811232 CA3327758 |
328 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001339766 CA3327762 rs764577777 RCV002384456 |
333 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000799375 CA3327763 rs774838967 RCV002370107 |
334 | Y>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001205578 rs1749754065 RCV002418684 |
336 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002431952 rs1364868688 CA360267521 RCV001340374 |
336 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000820305 rs762169960 RCV002453881 CA3327764 |
338 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA360267546 RCV002363081 RCV000808215 rs1228031532 |
340 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000795842 rs1580552356 CA360267549 RCV002422707 |
341 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001044098 rs1211104824 CA360267818 RCV002379518 |
344 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1580553607 RCV000998402 RCV001017087 |
346 | P>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001038663 rs773569755 RCV002391104 |
346 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs773569755 RCV002390683 RCV000819387 CA3327784 |
346 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1580553624 RCV000800236 RCV002388475 |
347 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1470780981 RCV001308522 CA360267863 RCV002393734 |
348 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002397573 RCV000793658 CA3327789 rs555101803 |
351 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs373961048 RCV002402639 RCV001214850 CA3327788 |
351 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV002406756 RCV000797925 rs1580553669 |
354 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001009811 RCV001067739 rs1580553663 |
354 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360267978 rs780963280 RCV001213961 RCV002418735 |
357 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1204244703 RCV000794892 RCV003166123 CA360268012 |
360 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001212381 RCV002418727 rs1260085751 CA360268006 |
360 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs373336770 CA3327794 RCV001214851 RCV002418739 |
362 | D>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001017172 RCV001055766 rs1234762807 |
363 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs562793293 RCV002256520 RCV000802170 CA121295147 |
363 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA360268070 RCV001209899 rs1204053199 RCV002447073 |
365 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002427006 CA121295183 rs751866806 RCV000814559 |
370 | C>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000818123 RCV002453868 CA360268126 rs1580553765 |
371 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3327800 RCV002433992 rs146703236 RCV000817229 |
374 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002436945 RCV001239692 rs1749809431 |
374 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1428035715 RCV001225083 RCV002319678 CA360268200 |
376 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002445366 RCV001070883 rs71539685 |
376 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360268216 rs1393216795 RCV000815380 RCV002325603 |
378 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001209262 RCV002447071 CA360268229 rs1362873316 |
379 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002255647 RCV001318394 rs1749811015 |
381 | K>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002454293 rs761005861 RCV001041268 CA3327804 |
381 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs71539687 RCV001304431 CA121295206 RCV002268469 RCV002341607 |
383 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587776701 RCV000240050 RCV000009277 RCV000822053 RCV001017472 |
383 | K>R | Variant assessed as Somatic; 0.0 impact. Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome Endometrial carcinoma [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinVar dbSNP |
|
CA121295214 RCV001047313 rs1023881607 RCV002348379 |
384 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587776701 RCV000797366 RCV002458441 |
385 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3327807 rs759555645 RCV001203739 RCV002365916 |
385 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001010030 CA3327809 RCV000909021 rs140543135 |
387 | F>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs146475000 RCV002255628 RCV001207456 CA121295259 |
388 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
rs1749812350 RCV001302617 RCV002327655 |
391 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000936767 COSM1671723 RCV001010146 CA3327830 rs761779919 RCV002268368 |
393 | V>M | kidney Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1580556404 CA360268842 RCV001233533 RCV001010220 |
396 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002348674 rs1749902990 RCV001205810 |
401 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000821728 CA360268868 RCV002345901 rs1580556427 |
401 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA360268890 rs1580556438 RCV001207287 RCV002356888 |
404 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002256524 CA121297224 RCV000804132 rs199659527 COSM1695912 |
411 | R>C | Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000802792 RCV002370124 CA3327837 rs764885728 |
411 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752223122 RCV002255520 CA360268949 RCV000794698 |
413 | E>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001349307 RCV002377484 rs752223122 CA3327838 |
413 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002384431 CA360268953 RCV001324726 rs1168998675 |
414 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002412093 rs778162840 RCV001347986 |
417 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs778162840 RCV002411590 RCV001066112 CA3327840 |
417 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs143211109 RCV001010562 RCV000796085 CA3327839 |
417 | R>W | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs578113271 CA3327842 RCV000794478 RCV002255519 |
419 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002416387 rs578113271 RCV001051206 CA3327843 |
419 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001010610 CA3327844 RCV002268356 rs55660516 RCV000927600 |
420 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs750697976 CA3327845 RCV000794883 RCV002442628 RCV002254711 |
421 | L>V | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA360269001 rs1580556516 RCV001044153 RCV001010624 |
422 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002377410 RCV001324020 rs1749905246 |
423 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000808763 CA360269013 RCV002256531 rs1418423507 |
424 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001037942 rs1273708265 CA360269023 RCV002372756 |
425 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001049029 CA3327849 rs773030280 RCV002379537 |
430 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1749906059 RCV001202508 RCV002379761 |
431 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs373680329 RCV002379543 CA3327852 RCV001050519 |
432 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000801460 RCV002386425 CA3327851 rs770687133 |
432 | L>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1391263628 CA360269064 RCV002379858 RCV001225597 |
433 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs974762625 RCV001064618 CA121297278 RCV002379589 |
436 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA360269088 rs974762625 RCV003169688 RCV001346613 |
436 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757194485 RCV000796384 RCV002386400 |
437 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002379532 CA360269093 RCV001047968 rs1467599861 |
437 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs35121792 RCV001010918 RCV000974203 CA3327857 |
438 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs140465019 RCV002381781 RCV000807059 CA121297309 |
439 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV000813823 CA121297326 RCV002381816 rs61749609 |
440 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001346106 CA360269108 RCV001010960 rs1415582194 |
440 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA360269132 RCV002381790 rs1580556608 RCV000808511 |
443 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000792865 CA360269134 RCV002386381 rs1580556612 |
444 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001324992 CA3327861 RCV003166903 rs781450054 |
446 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002549335 rs1405458524 RCV001010993 CA360273348 |
449 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs780395319 RCV001069233 RCV002379614 |
449 | Q>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002381832 rs780395319 CA3327881 RCV000816091 |
449 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001066855 rs1743268905 RCV002379599 |
451 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000798380 rs539295465 CA3327883 RCV001011178 RCV002290440 |
454 | R>* | Familial adenomatous polyposis 4 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002379808 CA3327885 rs144798521 COSM1650474 RCV001213516 |
454 | R>L | lung Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3327884 rs144798521 RCV001011127 RCV000805983 RCV001766679 |
454 | R>Q | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs963234468 RCV002379812 CA360273392 RCV001214348 |
456 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3327887 rs781291181 RCV002381887 RCV000824540 |
456 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003153855 RCV001011065 CA121292298 rs963234468 RCV000814730 |
456 | E>K | Familial adenomatous polyposis 4 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002379493 RCV001039365 rs1743269812 |
458 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1580587428 RCV002386416 RCV000799944 CA360273437 |
460 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3327892 RCV001058284 RCV002379574 rs373930327 |
460 | N>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV002384492 rs1743270160 RCV001351851 |
461 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201589579 RCV002256546 RCV000821820 CA3327893 |
461 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000808688 RCV001011315 rs35009542 CA3327894 RCV002268297 |
465 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs766948921 RCV000808201 CA3327895 RCV001011322 |
466 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002391099 rs1743271448 RCV001037123 |
466 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000793529 CA360273607 RCV002388421 rs1353600849 |
471 | A>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000817161 rs778610412 RCV002390665 |
474 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765517032 CA3327902 RCV002393548 RCV001224252 |
474 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001227041 RCV001011485 rs1222069239 CA360273658 |
475 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs758556156 RCV002388513 RCV000805507 CA3327904 |
476 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001037072 rs534548594 RCV002391098 |
477 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs534548594 CA3327905 RCV002388488 RCV000802358 |
477 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001301779 CA3327907 rs756088761 RCV002393716 |
478 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001011571 RCV000812203 CA360273702 rs1485170914 |
479 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs138404237 RCV001011692 CA3327932 RCV001062037 |
487 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1743352411 RCV001338099 RCV002395736 |
488 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000919708 CA3327933 RCV001818866 rs76249824 RCV001011727 |
490 | S>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000804024 CA3327934 rs749116282 RCV001011769 |
491 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003169692 RCV001346997 rs777360391 CA3327939 |
497 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs746541629 RCV000799884 CA3327940 RCV001011854 |
498 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1743353099 RCV002393485 RCV001211759 |
498 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002393256 RCV001051165 rs1743353294 |
502 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011966 CA360274279 rs1580589391 |
507 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000821300 CA3327944 rs770250448 RCV002259032 |
507 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001012008 RCV001238588 rs1580589397 |
508 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs146768828 CA3327945 RCV001011998 RCV000963325 |
508 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002388416 RCV000792618 rs763370550 CA3327946 |
508 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1743353881 RCV001299516 RCV003166683 |
511 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1379605717 RCV002254717 RCV002400237 CA360274311 RCV001040240 |
512 | E>* | Familial adenomatous polyposis 4 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001243014 CA360274330 RCV002402772 rs1286323562 |
514 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002479112 RCV000961622 RCV001012167 RCV001800905 rs34058399 CA3327954 |
523 | E>K | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD |
|
RCV001012233 CA3327975 RCV001254630 RCV000966952 RCV001002124 rs55724159 |
524 | N>T | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001218360 rs1470261317 CA360274442 RCV002402655 |
528 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000823459 rs758191157 RCV002397732 CA3327977 |
529 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA360274471 RCV002397708 rs1580597313 RCV000818493 |
532 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002388415 RCV000792604 CA3327980 rs756837309 |
536 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001218273 RCV002393515 CA3327981 rs780858508 |
536 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1178614269 RCV002397596 RCV000797556 CA360274535 |
541 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001225828 rs775863622 RCV002256711 |
542 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1743613658 RCV002402465 RCV001068253 |
542 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001012488 CA3327985 RCV000802316 rs780712445 |
543 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001038932 rs1044544597 CA121299867 RCV002391107 |
547 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012521 rs1580597397 RCV000811013 |
550 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000798641 rs749862056 CA3328005 RCV001012579 |
552 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002393715 rs755514051 RCV001301741 |
554 | M>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3328006 RCV000798591 rs755514051 RCV001012635 |
554 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1199212284 RCV001226246 CA360274649 RCV002402709 |
556 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001323498 rs1743679562 RCV002412039 |
561 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs945510244 RCV001235961 CA121301424 RCV001012776 |
567 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1353476726 RCV002397564 CA360274728 RCV000792035 |
568 | K>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002400261 RCV001045767 rs1743680332 |
571 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002397739 rs1046367272 CA121301447 RCV000823764 |
571 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003166267 CA3328011 RCV000807784 rs747248456 |
573 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001543107 RCV001012851 RCV000793121 CA3328013 rs776668872 |
574 | R>Q | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3328012 rs771054581 RCV000800882 RCV001012845 |
574 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002397680 RCV000813004 rs1188380279 CA360276472 |
589 | E>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA360276476 rs1580027402 RCV001013083 RCV001071577 |
590 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1580027407 RCV001013063 |
591 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013146 RCV003153840 CA3328043 RCV000799438 rs764832633 |
593 | R>Q | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs759118105 RCV000801670 RCV001013142 CA3328042 |
593 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs370231558 CA3328045 RCV001248510 RCV002411914 |
596 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1580027448 RCV000813598 RCV002406841 CA360276521 |
597 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3328048 RCV001013191 rs757559761 RCV000799331 |
598 | S>L | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002402749 RCV001238383 rs757559761 CA3328049 |
598 | S>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001340809 rs1580027482 RCV002412069 |
600 | V>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802725 CA360276534 rs1580027482 RCV003166219 |
600 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1744034436 RCV002411774 RCV001210170 |
602 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002409451 CA3328052 RCV001054412 rs751907249 |
603 | S>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000802350 CA3328055 rs772978841 RCV002406779 |
606 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs34168832 CA3328056 RCV000809864 RCV002256533 |
606 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001223360 rs1744035067 RCV002411826 |
607 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804074 rs759247521 CA3328059 RCV001535795 RCV002406788 |
612 | E>K | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3328060 RCV001013362 RCV001210842 rs368729300 |
614 | H>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002406838 RCV000813406 rs368729300 COSM1695914 CA360276627 |
614 | H>Y | Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001013396 CA3328062 rs372874549 RCV001038562 |
616 | R>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3328063 rs764683130 RCV000803304 RCV002406783 |
616 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002411824 rs1346767026 CA360276659 RCV001223091 |
619 | P>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001013421 CA3328066 RCV000802810 RCV001816867 rs200337887 |
620 | D>N | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1237885290 CA360276682 RCV001205310 RCV002411754 |
623 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3328068 rs756300808 RCV002409461 RCV001056376 |
624 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs780102728 CA3328069 RCV002257973 RCV000807459 |
626 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000811754 rs781236466 CA3328094 RCV002257978 |
634 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3328098 RCV000815064 RCV001013659 rs376488647 |
637 | E>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002406742 RCV000795209 rs376488647 CA3328099 |
637 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001013691 rs773818431 CA3328101 RCV000809262 |
639 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs758193305 RCV002406654 RCV000797172 RCV000709806 |
639 | F>missing | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002406811 RCV000808516 CA360277483 rs1580033721 |
641 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001860746 RCV001013762 rs1271669410 CA360277509 |
645 | L>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000820472 CA3328103 RCV002255540 rs772586624 |
646 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1580033751 RCV000793361 RCV002406730 |
647 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1418780560 RCV002406853 CA360277520 RCV000815554 |
647 | H>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1341844785 CA360277581 RCV001208473 RCV002418701 |
655 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002418959 CA121319908 RCV001317218 rs761101728 |
656 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001211060 rs1237471725 RCV002418718 CA360277588 |
656 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA121319931 RCV002418893 rs996312502 RCV001297258 |
657 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3328106 rs766652796 RCV001013873 RCV001040688 |
657 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA360277633 rs1267678112 RCV001054562 RCV002416403 |
661 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000810728 RCV002422783 CA360277628 rs1580033832 |
661 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1580033845 RCV000822210 RCV002415937 CA360277651 |
663 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001056990 RCV002416415 rs759657866 |
666 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1744152400 RCV001350801 RCV002420761 |
668 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000810968 rs372048303 RCV001014019 CA3328111 |
669 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001014041 RCV000909365 CA3328110 rs35045151 |
669 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001240862 rs1196357562 RCV002418826 CA360277744 |
671 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA3328113 RCV000810097 rs750261457 RCV002422781 |
671 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3328114 RCV001014064 rs139593361 RCV000794249 RCV002507368 |
672 | I>M | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002416416 RCV001057123 rs1744152742 |
672 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233751 rs1744153840 RCV002418802 |
676 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001049506 RCV003160385 rs1744153840 |
676 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796735 RCV002257957 rs1441694543 |
679 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812556 RCV002268305 CA3328116 RCV001014195 RCV001766703 rs115198722 RCV002254713 |
681 | P>S | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs145657887 RCV000817584 RCV001014172 RCV001535534 CA3328117 |
682 | V>L | Hereditary cancer-predisposing syndrome MSH3-related attenuated familial adenomatous polyposis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000796361 RCV002422711 CA3328118 rs778485136 |
683 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1744154534 RCV001352388 RCV002420768 |
685 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1744154635 RCV002416414 RCV001056529 |
686 | L>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232716 rs747667558 CA3328120 RCV002418799 |
689 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs771500013 CA3328121 RCV002422730 RCV000799262 |
689 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000799452 rs747667558 CA360277946 RCV002422733 |
689 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs575779178 CA3328122 RCV001014303 RCV000824423 |
690 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000803830 RCV002422750 CA3328124 rs771378744 |
692 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001043366 CA3328126 RCV002416358 rs759907930 |
695 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001060400 rs1354292487 CA360279160 RCV002418512 |
696 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001201436 RCV002418663 rs1744168013 |
698 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000797127 RCV002422714 rs1455445683 |
703 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771375855 CA3328141 RCV002422683 RCV000793351 |
705 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001221047 rs1744168726 RCV003163701 |
706 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360279295 rs1580034820 RCV000812721 RCV002422798 |
708 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002259031 VAR_016160 rs1805354 CA3328142 RCV000821106 |
709 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA3328144 RCV001014469 RCV001766693 rs369015749 RCV000810430 |
712 | I>T | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV000804175 RCV002424865 rs751236312 |
715 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763245421 CA3328147 RCV002422773 RCV000807977 |
719 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs761901103 RCV001202619 RCV002429861 |
721 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000821944 RCV002427064 rs1434492542 CA360279456 |
721 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002431962 rs766237486 RCV001342667 CA3328151 |
722 | V>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000816753 RCV003166360 rs1580034928 CA360279480 |
723 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3328154 rs200612739 RCV001014676 RCV002268298 RCV000808716 |
725 | E>K | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000794695 RCV001014638 CA3328155 rs752400305 |
726 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3328156 rs376667075 RCV002427027 RCV000817435 |
727 | R>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003160434 rs148896355 TCGA novel RCV001054563 |
727 | R>L | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs148896355 CA3328157 RCV000802281 RCV002424854 |
727 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002424852 RCV001824887 rs145353158 CA3328158 RCV000802105 |
729 | H>D | Hereditary cancer-predisposing syndrome MSH3-related attenuated familial adenomatous polyposis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3328159 RCV002429639 rs756734491 RCV001049875 |
730 | L>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1744170638 RCV002416392 RCV001051972 |
732 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220355 CA3328160 rs369843843 RCV002429936 |
732 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001071793 CA3328162 rs770330684 RCV002429746 |
734 | R>* | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA360279617 RCV001305662 RCV002430112 rs1261908217 |
734 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001014807 rs1580035037 CA360279659 RCV001048457 RCV000987530 |
738 | K>* | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA121320808 RCV000792238 RCV002424792 rs931950562 |
740 | P>S | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002430105 rs1744171476 RCV001302634 |
743 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799479 CA360279792 rs1580035113 RCV003166178 |
749 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1744171962 RCV002447343 RCV001317102 |
751 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001348612 CA360280664 RCV002447425 rs1423667148 |
752 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000815096 CA3328185 RCV001816893 RCV001014973 rs200819607 |
754 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs376208514 RCV001347416 RCV002447422 CA121325810 |
754 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV002447289 RCV001300996 CA360280709 rs1237452188 |
755 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002445312 rs1744285844 RCV001059768 |
758 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002447193 rs1744285928 RCV001239580 |
759 | S>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1580042050 RCV001015033 CA360280789 RCV001222569 |
760 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001204521 RCV002447057 rs376555325 CA360280794 |
761 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000804930 CA3328188 rs376555325 RCV002442686 |
761 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000799755 CA3328190 rs373251342 RCV002256515 |
763 | C>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3328189 RCV001058617 RCV002445305 rs373251342 |
763 | C>Y | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001015086 CA3328191 rs146657445 RCV000791975 COSM3947755 |
764 | I>L | lung Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001337286 RCV002447388 CA121325867 rs146657445 |
764 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1744286598 RCV002456414 RCV001315297 |
766 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360281701 rs1287961338 RCV000803978 RCV002256523 |
774 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000799132 rs765970162 RCV002458449 CA121328061 |
776 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001065405 RCV002445338 rs1744350390 |
776 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002456417 CA3328225 RCV001316614 rs368162490 |
779 | R>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002453786 RCV000804449 CA3328226 rs368162490 |
779 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3328227 RCV002268283 RCV002442621 RCV000793567 rs199791286 RCV002290432 |
779 | R>H | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA3328228 rs753129920 RCV002429740 RCV001070030 |
781 | H>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000798019 CA121328123 rs1006511779 RCV002442641 |
781 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001056621 rs778848549 RCV002445298 |
783 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002424908 RCV000811906 rs758635700 CA3328229 |
783 | P>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003166636 rs758635700 RCV001294546 |
783 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000809401 RCV002424891 CA121328125 rs778848549 |
783 | P>T | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001206443 rs1744351165 RCV002447063 |
785 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042828 rs1744351269 RCV002445237 |
786 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001048257 RCV002445253 rs139119736 CA3328232 |
787 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3328233 RCV000792007 RCV002256501 rs10067975 |
789 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000794927 RCV002442629 rs745894696 CA3328234 |
790 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1580045587 RCV002458433 CA360281822 RCV000796111 |
793 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA360281820 RCV002447288 RCV001300934 rs1265838949 |
793 | N>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000823000 RCV001015355 rs1210674099 CA360281836 |
795 | L>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs542104580 CA3328237 RCV000808098 RCV002424884 |
796 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000819374 rs1580045595 RCV002453877 |
796 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs542104580 RCV000814033 RCV001015365 CA3328238 |
796 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000822112 RCV001015362 rs372431614 CA3328236 |
796 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002451507 rs748016039 RCV001220539 CA3328239 |
797 | E>* | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs555670202 CA3328241 RCV002442620 RCV000793288 |
799 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA360281856 RCV002445204 RCV001034722 rs1430308910 |
799 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002430091 RCV001298260 CA121328260 rs917488076 |
801 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002429867 RCV001203137 rs917488076 |
801 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000803203 RCV002442674 CA360281895 rs1580045688 |
805 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA121328270 RCV000823491 RCV003169052 rs547383433 |
809 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002453892 rs1386308078 CA360281942 RCV000822141 |
812 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001015536 RCV000821682 CA3328261 rs150446804 RCV001766740 |
813 | K>R | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001015558 RCV000808067 rs1580051105 CA360282940 |
814 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3328262 RCV002458457 RCV000800377 rs759094395 RCV002268288 |
814 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001066056 CA360282968 RCV002429719 rs1230908557 |
816 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001066410 RCV002258123 CA360282991 rs764649920 |
817 | H>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3328263 rs764649920 RCV002427488 RCV001038221 |
817 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002430023 RCV001239556 rs1744531551 |
818 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002447299 rs1276598650 RCV001303442 |
819 | H>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3328266 RCV002453773 rs764482775 RCV000802841 |
822 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1217678820 RCV002447340 RCV001316736 CA360283132 |
825 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002431958 RCV001342320 rs1744532237 |
827 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000898245 CA3328269 RCV002291708 rs138339194 RCV001015645 |
827 | H>R | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002429645 CA3328270 RCV001051333 rs750604433 |
833 | C>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002429683 RCV001060040 rs1744532481 RCV001535471 |
833 | C>W | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001045804 rs1744532625 RCV002429611 |
836 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002451691 CA360283397 rs963584392 RCV001305873 |
841 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA360283396 RCV001205166 RCV002429876 rs963584392 |
841 | A>T | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002453854 CA360283403 rs1580051170 RCV000816066 |
842 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs371547241 RCV001050520 RCV002451204 CA3328274 |
848 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200185323 RCV002268307 RCV000812892 CA3328295 RCV001015952 |
853 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002451495 RCV001218578 rs1744630266 |
859 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796299 RCV002424825 CA121296525 rs937377851 |
861 | N>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002427072 rs1187454624 CA360272912 RCV000823440 |
861 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs780827591 CA3328298 RCV001235265 RCV002451565 |
863 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA3328300 rs187411724 RCV000792920 RCV001016072 |
867 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002424869 CA3328301 rs201676445 RCV000804994 |
868 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002424892 CA360272969 rs1580053733 RCV000809547 |
870 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002451547 RCV001231518 rs768150895 |
872 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3828538 RCV001317594 rs768150895 CA3328303 RCV002438717 |
872 | G>E | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA3328305 RCV001016135 RCV000798847 rs146185367 |
875 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002431964 RCV001343046 rs1744631443 |
875 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002434003 rs1580053746 CA360273006 RCV000818796 |
876 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1315287122 CA360273057 RCV003169736 RCV001350652 |
883 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001016202 CA360273053 RCV002549437 rs896080306 |
883 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs773478240 RCV000792992 RCV002458411 CA3328308 |
884 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1745046098 RCV001222708 RCV002429943 |
887 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002453907 rs546532182 CA3328323 RCV000824602 |
887 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002453785 rs1561486630 RCV000804310 CA360273818 |
888 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003166216 rs1561486632 RCV000802403 |
889 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016268 rs1561486632 RCV002551792 |
890 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057293 rs772476641 CA3328324 RCV002436625 |
891 | V>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002429649 CA3328325 rs773713925 RCV001052256 |
892 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002436673 rs1745046566 RCV001068549 |
895 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3328328 RCV001766632 RCV000794026 rs777054839 RCV001016296 |
896 | G>* | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002424859 CA3328329 COSM1671727 RCV000803299 rs777054839 |
896 | G>R | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1204002507 RCV002458454 RCV000799885 |
899 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3328331 RCV003153867 RCV002257991 rs756956247 RCV000822029 |
899 | M>V | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001216835 CA121307384 rs894670241 RCV002436828 |
900 | G>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1745047211 RCV002429878 RCV001205584 |
900 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1561486672 RCV001053219 RCV002429655 |
904 | S>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3328333 RCV001016386 rs767359174 RCV000802987 |
906 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs766140122 RCV002427013 CA3328337 RCV000815763 |
908 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs778661757 RCV001016405 CA121307410 RCV001860827 |
908 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000799003 RCV002255526 CA3328338 rs753525389 |
911 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs41545019 RCV001016432 RCV000882505 RCV001817081 RCV001766788 CA3328339 |
911 | L>W | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA360273971 rs1580066484 RCV000814331 RCV002433973 |
912 | I>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000798631 CA121307445 rs145977077 RCV002440658 |
913 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
CA3328341 RCV001016459 RCV000934882 RCV001800904 rs148633216 |
914 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000801267 rs200945869 CA121307452 RCV002440675 |
915 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000812638 RCV002440763 CA360273990 rs1580066514 |
916 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs377380366 RCV000807002 RCV002440725 CA3328346 |
917 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000803952 rs770164999 CA3328348 RCV002440703 |
918 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3328347 RCV001204171 RCV002255626 rs746195165 |
918 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1580066529 RCV002436841 RCV001218835 |
919 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1580066529 RCV002440764 CA360274011 RCV000812745 |
919 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000808056 RCV002256182 RCV001764226 rs751326348 RCV000240520 |
921 | Y>missing | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3328350 RCV001061278 rs190723980 RCV001016528 |
921 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000819648 rs1580066542 RCV002434009 CA360274020 |
921 | Y>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs763008024 RCV001203598 RCV002436781 |
923 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000797027 CA3328352 RCV001016550 rs764219762 |
925 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3328354 RCV000794051 RCV002440631 rs760629540 |
926 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000794055 CA360274054 RCV003166112 rs1580066566 |
926 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002436660 RCV001065638 CA3328355 rs766261257 |
927 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002436674 RCV001068579 rs766261257 CA121307527 |
927 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1745049883 RCV001068165 RCV002436672 |
928 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239931 RCV002436946 CA360274069 rs759266003 |
929 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3328358 RCV002440762 RCV000812468 rs764871098 |
929 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000812973 RCV001016602 CA3328357 rs759266003 |
929 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002440636 rs1485129801 CA360274095 RCV000795015 |
933 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs752392020 RCV002258116 RCV001057005 CA3328359 |
934 | G>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000818810 rs766672143 RCV002434004 |
935 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360274104 rs1490213002 RCV002434007 RCV000819057 |
935 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA360274127 RCV001016663 rs1580066615 |
938 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003169629 RCV001341860 rs1745875976 |
939 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3328379 RCV000821071 RCV001016675 rs763614470 |
940 | G>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001044296 RCV002436568 rs1745876103 |
940 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794062 CA3328380 RCV003166113 rs751103891 |
941 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV002436973 RCV001248250 rs1745876381 |
943 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1745876335 RCV001206001 RCV002436793 |
943 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA360275494 RCV002436928 RCV001237219 rs1486734790 |
945 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs750951036 RCV002256529 RCV000806679 CA3328384 |
945 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002437035 CA360275503 RCV001304766 rs763523970 |
946 | Y>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1745876734 RCV001171850 RCV002436728 |
947 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3328385 RCV002438238 rs758546167 RCV000512940 |
949 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001511633 rs184967 RCV001016772 VAR_016161 CA3328386 |
949 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3328388 RCV001016790 RCV000799047 rs528928531 |
953 | M>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002440767 rs1382292601 RCV000812906 CA360275561 |
954 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002440768 RCV000813080 CA360275582 rs1580091502 |
957 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000806865 RCV002440723 rs1580091499 |
958 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1580091512 RCV000813391 RCV002440772 |
959 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002256541 rs778941230 CA3328389 RCV000815682 |
959 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002438792 RCV001344342 rs1745877870 |
960 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1561500002 RCV000791899 RCV003166087 CA360275613 |
962 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002440678 rs752236141 RCV000801640 |
963 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016862 CA360275625 rs548589845 |
963 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1019486187 RCV001232850 RCV002436911 CA121338528 |
967 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3328396 rs775386491 RCV001056458 RCV002436622 |
971 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002436563 rs1745878920 RCV001043349 |
973 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016927 RCV000804100 rs762608251 CA3328397 |
973 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001017519 CA360275707 RCV001203706 rs1580091577 |
976 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA360275725 RCV000812300 rs1174658305 RCV002440759 RCV001766701 |
979 | R>T | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA3328400 rs761465174 RCV002436827 RCV001216372 |
981 | T>M | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1202769574 CA360275744 RCV000797047 RCV002440648 |
982 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002440702 RCV000803801 rs1580091606 CA360275784 |
988 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002440769 RCV000813162 rs1580091609 CA360275787 |
988 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001017691 CA3328402 rs751007341 RCV001065662 |
989 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002436950 RCV001241815 rs756720431 CA3328403 |
990 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002434445 rs766742870 CA3328404 RCV001038964 |
991 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002436681 CA3328406 rs755228303 RCV001069739 |
993 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1745880551 RCV002436643 RCV001061380 |
995 | E>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796503 CA360275829 RCV002440642 rs1324032838 |
995 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs150760023 RCV000797093 RCV001017798 CA3328409 |
996 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3328411 RCV000802536 rs548030451 RCV001017829 |
998 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs548030451 RCV002268309 CA3328410 RCV000816995 RCV001017828 |
998 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002436886 RCV001228550 CA360275853 rs1580091648 |
999 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3328414 rs139205893 RCV000816940 RCV001017990 |
1000 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA360346136 rs1580098589 RCV001018165 RCV001860895 |
1010 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001018221 rs371367632 CA3328435 RCV000802084 |
1012 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA360346193 RCV002442662 RCV000801907 rs1229168817 |
1015 | C>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA360346273 rs1561503554 RCV001063988 RCV002445331 |
1021 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1580098615 CA360346267 RCV001018397 |
1021 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001063244 rs771861205 RCV001002606 RCV002445162 CA3328439 |
1023 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001018468 rs147640909 CA3328440 RCV000824088 |
1024 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002319577 CA3328441 rs375336744 RCV000801900 |
1025 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs759931821 CA3328444 RCV001054707 RCV002319655 |
1028 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001234577 CA360346378 RCV002322125 rs1443075472 |
1031 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002325524 rs959058934 RCV000797610 CA121752177 |
1032 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA360346412 RCV000818475 RCV002325611 rs1580098696 |
1035 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA360346464 rs1380044382 RCV001018704 RCV000822039 |
1039 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002322037 rs1290471693 CA360346459 RCV001214305 |
1039 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002322010 RCV001205321 rs1268866296 CA360346522 |
1043 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA3328468 RCV001018762 RCV001520312 rs26279 VAR_016162 |
1045 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs144603433 RCV001048542 CA3328469 RCV001018781 |
1046 | A>T | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000820151 RCV002325615 CA360346795 rs1580104275 |
1046 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000794996 rs1040531132 RCV002325508 CA121753088 |
1050 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001234396 RCV002322123 rs750481881 CA3328471 |
1050 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002322291 rs1805131 RCV001346109 |
1054 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3328473 rs188074706 RCV000793538 RCV001018891 |
1056 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1746250862 RCV001068122 RCV002320345 |
1059 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000816597 rs1427170285 RCV001018974 CA360346878 |
1059 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000936173 RCV003153881 rs746782115 RCV001019023 CA3328477 |
1061 | R>G | Familial adenomatous polyposis 4 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001019048 CA360346896 RCV002320289 CA3328478 RCV001052973 rs756886395 RCV001052458 |
1062 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3328479 rs758008315 RCV000806258 RCV001019052 |
1063 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs745375580 CA3328480 RCV002319916 RCV000822507 |
1064 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002320294 rs1354644574 CA360346910 RCV001053597 |
1064 | A>V | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002325520 rs776035988 CA3328482 RCV000797150 |
1066 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002320314 rs776080458 RCV001060091 CA121753092 |
1069 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002325562 rs1580104373 RCV000804851 CA360346955 |
1072 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003166466 RCV001236681 rs1489181927 |
1073 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA3328487 RCV000791780 RCV002325496 rs372732917 |
1076 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002325592 rs1240927970 RCV000813701 CA360346992 |
1078 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001019347 rs750781725 RCV001316230 CA121753095 |
1079 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA360347008 rs1328941442 RCV001233086 RCV002447169 |
1081 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001019419 rs752719913 RCV001766847 RCV001048552 CA3328491 |
1082 | I>T | Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002442762 RCV000822209 CA360347035 rs1580104425 |
1085 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002447321 RCV001309648 rs1746253097 |
1085 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001062984 RCV002445328 rs979702683 CA121753099 |
1089 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002322039 RCV001214539 rs1746253572 |
1091 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000800728 RCV002257962 CA121753100 rs960855722 |
1092 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002442742 RCV000818886 CA3328495 rs180975253 |
1095 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs377191897 RCV000794732 RCV002325507 CA3328496 |
1097 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs745524865 CA3328497 RCV001019749 |
1098 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV002458438 RCV000797210 rs545543643 CA3328498 |
1099 | T>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001315652 RCV003166805 rs1746297454 |
1102 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001212651 rs1746297485 RCV002322032 |
1103 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818993 RCV001020019 CA3328523 rs576204286 |
1112 | T>M | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002320300 RCV001054574 rs145769847 CA3328527 |
1113 | M>I | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs747331232 RCV002320279 RCV001049705 |
1113 | M>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002257960 RCV000799228 CA3328526 rs747331232 |
1113 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1158289237 RCV001060601 RCV001020041 CA360347350 |
1114 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002256513 rs200343553 CA3328528 RCV000799074 |
1116 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001020058 RCV000819378 rs946137864 CA121753334 |
1117 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001062224 RCV002320318 rs1396664221 |
1119 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799226 rs1580106219 RCV002325531 CA360347391 |
1120 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3328529 rs759757672 RCV002458795 RCV001935559 |
1122 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000816827 RCV002453859 CA121753335 rs1037707651 |
1122 | W>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1043139375 RCV002451690 RCV001305738 |
1123 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA121753336 RCV000818710 RCV001020108 rs1043139375 |
1123 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001208169 RCV002451447 rs761782284 CA3328532 |
1127 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767305989 CA3328533 RCV001247183 RCV002451608 |
1128 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002245692 CA360347446 rs1221498955 RCV000821999 RCV002257990 |
1128 | M>V | Familial adenomatous polyposis 4 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000820211 RCV002453880 CA360347492 rs1580106260 |
1134 | S>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA3328535 RCV000796880 rs148947624 RCV002460107 |
1135 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA3328537 RCV001039472 RCV001020223 rs753475996 |
1136 | L>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA3328538 rs754493842 RCV002453820 RCV000808424 |
1137 | H>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001064010 CA360264763 rs1442281976 |
4 | R>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
RCV001245568 rs761912573 CA3327416 |
4 | R>W | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1275624430 RCV001071481 |
5 | K>R | No |
ClinVar dbSNP |
|
|
RCV000805858 rs1580537658 CA360264797 |
7 | A>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1749187065 RCV001207714 |
7 | A>T | No |
ClinVar dbSNP |
|
|
rs1580537658 CA360264796 RCV000796558 |
7 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1313510221 RCV001044427 |
8 | S>T | No |
ClinVar dbSNP |
|
|
RCV002282484 rs369278563 CA360264815 RCV001210126 |
9 | G>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3327423 rs777602777 |
11 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA121287683 rs969715234 |
12 | A>G | No |
ClinGen Ensembl |
|
|
RCV000795775 rs1580537725 CA360264835 |
12 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3327425 rs756843242 |
13 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA360265106 RCV001337753 rs1414195684 |
15 | S>G | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA121287684 COSM1647847 rs944680882 |
16 | S>* | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
RCV001066125 rs1749189749 |
17 | A>G | No |
ClinVar dbSNP |
|
|
rs1749189749 RCV001218095 |
17 | A>V | No |
ClinVar dbSNP |
|
|
CA360265163 rs1416287946 |
20 | R>S | No |
ClinGen gnomAD |
|
|
RCV001315937 rs1353893324 |
23 | V>F | No |
ClinVar dbSNP |
|
|
CA3327427 rs746455200 |
25 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1749191144 RCV001038238 |
25 | S>N | No |
ClinVar dbSNP |
|
|
rs879145456 RCV001230805 |
25 | S>R | No |
ClinVar dbSNP |
|
|
rs770190473 CA3327428 |
26 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360265220 rs780517196 |
26 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1465875645 RCV001307643 |
27 | F>L | No |
ClinVar dbSNP |
|
|
rs749586225 CA360265234 |
27 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465875645 CA360265226 |
27 | F>V | No |
ClinGen TOPMed |
|
|
CA360265252 rs1283575037 |
29 | Q>* | No |
ClinGen gnomAD |
|
|
CA360265258 rs768967342 CA3327431 |
29 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360265256 RCV000817963 rs1580537878 |
29 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1580537891 CA360265268 RCV000814997 |
30 | S>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1580537911 RCV000824036 CA360265279 |
31 | T>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3327432 rs774577965 |
32 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs759573423 CA3327436 |
37 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360265345 rs1580538013 RCV000807580 |
39 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000798972 CA360265363 rs1580538038 |
41 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3327442 rs756968089 |
42 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA3327443 rs767196321 |
42 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs972547684 CA360265404 |
45 | D>E | No |
ClinGen Ensembl |
|
|
rs779180469 CA3327449 |
46 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3327450 rs748434336 RCV001045089 |
46 | Q>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
RCV001215915 rs1749197881 |
48 | D>N | No |
ClinVar dbSNP |
|
|
CA3327456 rs775307118 |
49 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383340362 RCV001337341 |
52 | A>E | No |
ClinVar dbSNP |
|
|
CA360265477 rs1383340362 |
52 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA121287873 rs530525176 |
54 | A>P | No |
ClinGen 1000Genomes |
|
|
RCV001300668 rs1749203500 |
54 | A>TAA | No |
ClinVar dbSNP |
|
|
CA3327470 rs767048342 |
54 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001239068 rs1749204582 |
55 | A>E | No |
ClinVar dbSNP |
|
|
CA360265517 rs1289418176 |
56 | A>E | No |
ClinGen TOPMed |
|
|
rs1289418176 CA360265519 |
56 | A>G | No |
ClinGen TOPMed |
|
|
rs1415766488 CA360265513 |
56 | A>T | No |
ClinGen gnomAD |
|
|
rs1289418176 RCV000797926 CA360265518 |
56 | A>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA3327480 RCV000936960 rs144776112 |
57 | A>P | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
| VAR_020934 | 57 | A>del | No | UniProt | |
|
rs148550291 RCV000937816 CA3327485 |
58 | A>P | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1412395270 | 59 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755472095 CA3327487 |
59 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000822107 CA360265543 rs755472095 |
59 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs2001675 CA360265554 |
60 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
RCV001215740 rs1749209474 |
60 | A>V | No |
ClinVar dbSNP |
|
|
rs1469244752 CA360265573 |
61 | A>E | No |
ClinGen gnomAD |
|
| VAR_020935 | 62 | A>AAAA | No | UniProt | |
|
rs535056167 CA3327504 |
62 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758656822 CA3327503 |
62 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA360265577 rs758656822 |
62 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs758656822 CA360265576 |
62 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs2405876 CA3327506 |
63 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554066076 RCV000790995 |
63 | P>AAAAAPAAP | No |
ClinVar dbSNP |
|
|
RCV001315057 rs1749213527 |
63 | P>ALP | No |
ClinVar dbSNP |
|
|
rs1580538685 RCV000798529 CA360265590 |
63 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001215142 rs1580538685 |
63 | P>R | No |
ClinVar dbSNP |
|
|
rs2405876 CA360265583 |
63 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360265586 rs2405876 |
63 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3327508 rs2405877 |
64 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3327510 rs768692915 RCV001061439 |
64 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs768692915 RCV001224302 |
64 | P>Q | No |
ClinVar dbSNP |
|
|
CA3327509 rs2405877 |
64 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001296002 rs2405877 |
64 | P>T | No |
ClinVar dbSNP |
|
|
RCV001343040 rs774328125 |
65 | A>T | No |
ClinVar dbSNP |
|
|
rs1210674651 CA360265607 |
65 | A>V | No |
ClinGen gnomAD |
|
|
rs767295239 CA3327515 |
66 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767295239 CA3327514 |
66 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360265610 rs767295239 |
66 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557874766 CA3327516 |
67 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1460806829 CA360265627 |
67 | P>L | No |
ClinGen gnomAD |
|
|
rs557874766 CA3327517 |
67 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1223470400 CA360265629 |
68 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360265637 rs1260755063 RCV001042041 |
68 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs577919981 CA3327520 |
69 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577919981 RCV001323376 |
69 | P>T | No |
ClinVar dbSNP |
|
|
rs765698219 CA3327522 |
70 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360265651 rs765698219 |
70 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260687596 CA360265670 |
71 | F>L | No |
ClinGen gnomAD |
|
|
rs1458300163 RCV000820857 CA360265665 |
71 | F>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1404800640 RCV000808917 CA360265677 |
72 | P>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 72 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360265682 rs1395956642 |
73 | P>T | No |
ClinGen gnomAD |
|
|
rs751800062 CA3327527 |
74 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440495979 CA360265694 |
74 | Q>R | No |
ClinGen gnomAD |
|
|
CA360265702 rs1561429373 |
75 | L>Q | No |
ClinGen Ensembl |
|
|
RCV001044294 rs1261331525 |
76 | P>A | No |
ClinVar dbSNP |
|
|
CA360265722 rs1258205404 |
77 | P>Q | No |
ClinGen gnomAD |
|
|
CA360265723 rs1258205404 |
77 | P>R | No |
ClinGen gnomAD |
|
|
RCV001326155 CA360265720 rs1200938359 |
77 | P>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA360265731 rs1180829987 |
78 | H>P | No |
ClinGen gnomAD |
|
|
rs1473363268 CA360265745 RCV001065546 |
79 | I>M | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA3327551 rs780215234 |
82 | E>D | No |
ClinGen ExAC gnomAD |
|
|
RCV001035072 rs1749286662 |
85 | R>T | No |
ClinVar dbSNP |
|
|
RCV001061350 rs1749286902 |
86 | R>missing | No |
ClinVar dbSNP |
|
|
RCV000812777 rs748099353 CA3327553 |
86 | R>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA121288525 rs878874228 |
89 | R>G | No |
ClinGen Ensembl |
|
|
CA360266188 rs1580540654 RCV000807581 |
89 | R>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA360266272 rs373436584 |
96 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776286022 RCV001219252 |
100 | K>* | No |
ClinVar dbSNP |
|
|
rs1749288737 RCV001046890 |
101 | V>I | No |
ClinVar dbSNP |
|
|
CA360266381 rs1369457380 |
105 | Q>* | No |
ClinGen TOPMed |
|
|
CA3327563 rs763423180 |
106 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3327565 rs774681075 |
107 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs987869162 CA121288554 |
110 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 114 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3327567 CA360266559 rs369397158 |
115 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360266578 rs1362313141 |
116 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV001043002 rs1749540121 |
122 | K>E | No |
ClinVar dbSNP |
|
|
CA360262940 rs1472947441 COSM3429713 RCV001342707 |
122 | K>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs757177212 CA3327595 |
127 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1749540844 RCV001046367 |
132 | K>T | No |
ClinVar dbSNP |
|
|
CA360263138 rs1258553784 |
133 | S>C | No |
ClinGen TOPMed |
|
|
RCV001298026 rs1258553784 |
133 | S>F | No |
ClinVar dbSNP |
|
|
rs1749541201 RCV001320067 |
139 | E>D | No |
ClinVar dbSNP |
|
|
rs755863687 CA3327598 |
140 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
RCV001040097 rs1749541551 |
142 | C>R | No |
ClinVar dbSNP |
|
|
RCV001049481 rs1749541832 |
143 | D>G | No |
ClinVar dbSNP |
|
|
rs748721462 CA3327603 |
144 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA121290961 RCV001214610 rs771284065 |
145 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1749542213 RCV001236349 |
146 | L>F | No |
ClinVar dbSNP |
|
|
CA121290964 rs913692200 |
146 | L>P | No |
ClinGen TOPMed |
|
|
CA3327604 rs772683764 |
148 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
RCV001337569 rs1749543098 |
151 | V>G | No |
ClinVar dbSNP |
|
|
CA360263504 rs1464009096 |
151 | V>I | No |
ClinGen TOPMed |
|
|
CA3327606 rs761147959 |
153 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs771370664 CA3327607 |
154 | E>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000805735 CA360263596 rs1580546664 |
155 | S>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 157 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 157 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776922419 CA3327609 COSM3828536 |
158 | E>D | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA360263674 rs1580546683 |
158 | E>Q | No |
ClinGen Ensembl |
|
|
rs1749543623 RCV001205701 |
159 | R>G | No |
ClinVar dbSNP |
|
| TCGA novel | 159 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs957233749 CA121290989 |
159 | R>K | No |
ClinGen Ensembl |
|
|
rs1289228012 CA360263722 |
160 | F>L | No |
ClinGen gnomAD |
|
|
rs989487112 RCV001058535 CA121290992 |
160 | F>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA121290996 rs867080501 |
161 | A>V | No |
ClinGen Ensembl |
|
|
CA3327611 rs765418313 |
162 | V>I | No |
ClinGen ExAC |
|
|
CA3327612 rs752700097 |
164 | P>R | No |
ClinGen ExAC gnomAD |
|
|
RCV001209221 rs1749544006 |
164 | P>S | No |
ClinVar dbSNP |
|
|
rs1296069751 CA360263925 |
166 | C>F | No |
ClinGen gnomAD |
|
|
CA360263919 rs1221411800 |
166 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1296069751 CA360263922 |
166 | C>Y | No |
ClinGen gnomAD |
|
|
rs1749544443 RCV001222110 |
167 | T>A | No |
ClinVar dbSNP |
|
|
rs1749544529 RCV001227849 |
169 | F>S | No |
ClinVar dbSNP |
|
|
RCV001213387 rs1749544608 |
171 | D>missing | No |
ClinVar dbSNP |
|
|
RCV001045550 rs1749544783 |
171 | D>missing | No |
ClinVar dbSNP |
|
|
rs767478058 CA121291006 |
171 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 171 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001039471 rs750311213 |
173 | S>R | No |
ClinVar dbSNP |
|
|
rs1276965330 CA360264158 |
174 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3327616 rs755916911 |
174 | L>R | No |
ClinGen ExAC |
|
|
rs753594929 CA3327618 |
175 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3327621 rs368468467 |
176 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001324189 rs778443399 |
177 | A>E | No |
ClinVar dbSNP |
|
|
CA3327623 rs778443399 |
177 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3327625 rs771327705 |
179 | N>S | No |
ClinGen ExAC gnomAD |
|
|
RCV001351507 rs1749546022 |
180 | A>T | No |
ClinVar dbSNP |
|
|
RCV001209109 rs1749546200 |
181 | V>L | No |
ClinVar dbSNP |
|
|
rs769878887 CA3327628 RCV001207579 |
182 | S>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1354731566 CA360264580 |
189 | Q>H | No |
ClinGen gnomAD |
|
|
RCV001216935 rs1749547306 |
189 | Q>L | No |
ClinVar dbSNP |
|
|
CA121291053 rs888626337 |
191 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1749547537 RCV001237252 |
192 | Q>R | No |
ClinVar dbSNP |
|
|
rs1749547577 RCV001306119 |
193 | K>N | No |
ClinVar dbSNP |
|
|
rs1580550073 CA360265857 |
194 | D>G | No |
ClinGen Ensembl |
|
|
rs1580550073 RCV000800322 CA360265858 |
194 | D>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000810091 CA360265871 rs1580550089 |
195 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA360265863 rs1454994218 |
195 | T>S | No |
ClinGen TOPMed |
|
|
rs760714116 CA3327651 |
197 | L>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001069911 rs1749670212 |
198 | F>I | No |
ClinVar dbSNP |
|
|
CA3327653 rs776590379 |
198 | F>L | No |
ClinGen ExAC gnomAD |
|
|
RCV001305729 CA3327652 rs766194502 |
198 | F>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1749670424 RCV001243592 |
199 | D>missing | No |
ClinVar dbSNP |
|
|
rs1580550117 CA360265904 RCV000821836 |
199 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001215934 rs1749670388 |
199 | D>N | No |
ClinVar dbSNP |
|
|
RCV000808856 CA360265915 rs1580550124 |
200 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA360265911 rs1580550120 RCV000806162 |
200 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3327654 rs759271567 |
201 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3327655 rs765063397 |
202 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
RCV001229081 rs1749670698 |
202 | Q>K | No |
ClinVar dbSNP |
|
|
rs1749670835 RCV001056528 |
203 | F>missing | No |
ClinVar dbSNP |
|
|
CA3327656 RCV001037195 rs752398971 |
203 | F>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA360266387 RCV001302887 rs1408201880 |
206 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA360266406 rs1288019618 |
207 | N>K | No |
ClinGen gnomAD |
|
|
rs1580550166 CA360266400 RCV000817729 |
207 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3327663 rs756439715 |
212 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1749671543 RCV001317666 |
213 | L>I | No |
ClinVar dbSNP |
|
|
RCV001295043 rs1749671763 |
214 | Q>H | No |
ClinVar dbSNP |
|
|
RCV001323230 rs1749671715 |
214 | Q>R | No |
ClinVar dbSNP |
|
|
RCV001324719 rs1749671816 |
216 | T>I | No |
ClinVar dbSNP |
|
|
RCV001045139 rs1749671918 |
218 | S>P | No |
ClinVar dbSNP |
|
|
rs1473248894 RCV001338922 |
219 | K>E | No |
ClinVar dbSNP |
|
|
rs768842380 CA3327667 |
220 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs774453643 CA3327668 |
221 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1749673003 RCV001037430 |
225 | S>A | No |
ClinVar dbSNP |
|
|
CA360266716 rs1428253473 |
225 | S>Y | No |
ClinGen gnomAD |
|
|
rs572251871 CA3327673 |
226 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3327674 rs775409796 |
227 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs775409796 CA360266736 |
227 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3327675 rs762737443 |
229 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1393414448 CA360266756 |
229 | Y>H | No |
ClinGen gnomAD |
|
|
CA360266774 rs763873895 |
230 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360266786 rs1377906074 |
232 | L>V | No |
ClinGen gnomAD |
|
|
CA3327681 RCV000813568 rs756632960 |
233 | E>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs780448179 CA3327682 |
233 | E>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001217302 rs1749674216 |
235 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1580550290 CA360266839 RCV000802666 |
236 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1451728655 CA360266843 |
237 | I>T | No |
ClinGen gnomAD |
|
|
rs1481996174 CA360266872 |
241 | Q>* | No |
ClinGen TOPMed |
|
|
CA360266870 rs1481996174 RCV000810938 |
241 | Q>K | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs772046189 CA3327687 |
242 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3327688 rs777901350 |
243 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1749674801 RCV001309164 |
243 | H>Y | No |
ClinVar dbSNP |
|
|
rs1463692245 CA360266903 |
245 | D>G | No |
ClinGen gnomAD |
|
|
rs558080525 CA360266900 |
245 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
RCV000791916 rs1580550343 CA360266910 |
246 | A>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3327691 rs775530635 |
249 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1272356369 CA360266931 |
249 | C>W | No |
ClinGen TOPMed |
|
|
rs762864714 CA3327692 |
250 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV001062583 rs1362962336 |
251 | E>K | No |
ClinVar dbSNP |
|
|
rs1362962336 CA360266938 |
251 | E>Q | No |
ClinGen gnomAD |
|
|
RCV001239301 rs1749675449 |
252 | C>IYT | No |
ClinVar dbSNP |
|
|
RCV001294707 rs1434358007 |
253 | G>V | No |
ClinVar dbSNP |
|
|
RCV001308744 rs1580550385 |
254 | Y>C | No |
ClinVar dbSNP |
|
|
RCV000819596 CA360266963 rs1580550385 |
254 | Y>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA360266979 rs1580550393 RCV000807557 |
256 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1298061414 CA360266976 |
256 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 258 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3327693 rs142201450 |
260 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773879116 CA3327694 |
261 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1580550424 RCV001063699 |
262 | D>E | No |
ClinVar dbSNP |
|
|
RCV001038228 rs761526898 CA3327695 |
262 | D>G | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 262 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766997264 CA360267032 RCV000817866 |
264 | E>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs754343324 RCV001340229 |
266 | A>E | No |
ClinVar dbSNP |
|
|
CA360267057 rs1580551783 RCV000814513 |
266 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3327720 rs754343324 |
266 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1159767671 CA360267060 |
267 | A>T | No |
ClinGen gnomAD |
|
|
CA360267065 rs1346905973 |
267 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360267070 rs1402690460 |
269 | E>K | No |
ClinGen gnomAD |
|
|
rs1749739851 RCV001048661 |
272 | I>F | No |
ClinVar dbSNP |
|
|
rs186924833 CA3327723 |
273 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
RCV001062271 rs186924833 |
273 | Y>N | No |
ClinVar dbSNP |
|
|
rs922169592 CA121293980 |
275 | H>Y | No |
ClinGen Ensembl |
|
|
rs1749740271 RCV001247280 |
277 | D>V | No |
ClinVar dbSNP |
|
|
RCV001241776 rs1749740312 |
278 | H>D | No |
ClinVar dbSNP |
|
|
rs1308267295 CA360267142 |
279 | N>D | No |
ClinGen gnomAD |
|
|
rs757418409 RCV001042416 CA3327727 |
280 | F>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1276732935 CA360267162 |
281 | M>I | No |
ClinGen TOPMed |
|
|
CA360267172 RCV000813010 rs1580551841 |
283 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1340481317 CA360267178 |
284 | S>R | No |
ClinGen TOPMed |
|
|
CA360267184 rs1213230231 |
285 | I>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 286 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360267198 rs1482733280 |
287 | T>A | No |
ClinGen gnomAD |
|
|
rs1170572532 CA360267205 |
288 | H>Y | No |
ClinGen gnomAD |
|
|
rs1749741675 RCV001324404 |
289 | R>T | No |
ClinVar dbSNP |
|
|
CA3327730 rs749300303 |
291 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA3327732 rs574407749 CA3327731 |
291 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 291 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA121293999 rs933563870 |
293 | H>N | No |
ClinGen gnomAD |
|
|
rs746594395 CA3327736 |
296 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001226564 rs1675425192 |
302 | Y>C | No |
ClinVar dbSNP |
|
|
CA360267297 RCV001347636 rs1236969310 |
303 | K>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1749751668 RCV001222171 |
309 | Q>* | No |
ClinVar dbSNP |
|
|
RCV001050121 rs1749751755 |
309 | Q>H | No |
ClinVar dbSNP |
|
|
rs1749751715 RCV001047889 |
310 | T>missing | No |
ClinVar dbSNP |
|
|
CA360267367 RCV000792824 rs1580552231 |
312 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA360267370 rs1283702618 |
312 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 314 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770547789 CA3327756 |
320 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230689084 CA360267440 |
323 | S>G | No |
ClinGen TOPMed |
|
|
CA360267445 rs1469762425 |
323 | S>R | No |
ClinGen gnomAD |
|
|
rs887040509 CA360267450 |
324 | S>* | No |
ClinGen gnomAD |
|
|
rs1247160847 CA360267456 |
325 | L>P | No |
ClinGen gnomAD |
|
|
RCV001247624 rs1749753402 |
327 | S>missing | No |
ClinVar dbSNP |
|
|
rs763366083 CA3327761 RCV001304790 |
332 | A>D | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 332 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774838967 CA360267508 |
334 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360267506 rs1580552318 RCV000819184 |
334 | Y>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1431935545 CA360267527 |
337 | S>P | No |
ClinGen gnomAD |
|
|
RCV001220882 rs1487436261 CA360267542 |
340 | I>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA360267553 rs1337109419 |
341 | G>A | No |
ClinGen gnomAD |
|
|
rs536975089 CA3327765 |
342 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV001337232 rs1481752637 |
345 | N>S | No |
ClinVar dbSNP |
|
|
CA360267838 rs1481752637 |
345 | N>T | No |
ClinGen gnomAD |
|
|
rs1180808858 CA360267847 |
346 | P>S | No |
ClinGen gnomAD |
|
|
rs1470780981 RCV001340188 |
348 | I>L | No |
ClinVar dbSNP |
|
|
CA3327786 rs766534747 |
348 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3327787 RCV001048710 rs545826957 |
349 | K>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA360267893 rs1200613814 |
350 | L>P | No |
ClinGen TOPMed |
|
|
rs555101803 CA360267903 |
351 | D>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001318683 rs1749806669 |
352 | D>H | No |
ClinVar dbSNP |
|
|
rs1377518925 CA360267940 |
354 | V>A | No |
ClinGen gnomAD |
|
|
rs751448831 CA3327790 |
355 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1749807265 RCV001237224 |
358 | E>A | No |
ClinVar dbSNP |
|
|
rs1749807412 RCV001322112 |
359 | I>L | No |
ClinVar dbSNP |
|
|
rs750148437 CA3327793 RCV001298621 |
360 | M>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs562793293 RCV000816935 CA3327795 |
363 | T>I | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1201188083 CA360268079 |
366 | S>I | No |
ClinGen TOPMed |
|
|
rs779579188 CA3327798 |
368 | L>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000810696 rs779579188 CA360268101 |
368 | L>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA360268141 RCV001224650 rs1225123305 |
372 | S>A | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
RCV001207162 rs1749809581 |
375 | K>* | No |
ClinVar dbSNP |
|
|
rs773431505 CA3327801 |
375 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA121295192 rs71539685 |
376 | E>G | No |
ClinGen Ensembl |
|
|
CA360268191 rs1294556697 |
376 | E>Q | No |
ClinGen TOPMed |
|
|
rs1393216795 CA360268219 |
378 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs71539686 CA121295197 |
378 | V>G | No |
ClinGen Ensembl |
|
|
rs1554067305 CA3327803 RCV001054066 |
380 | D>E | No |
ClinVar dbSNP ClinGen Ensembl |
|
|
CA360268265 rs1370138731 |
381 | K>N | No |
ClinGen gnomAD |
|
|
CA3327805 rs139170496 |
382 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360268273 rs1561438094 |
382 | K>I | No |
ClinGen Ensembl |
|
|
CA360268287 rs71539687 |
383 | K>T | No |
ClinGen TOPMed |
|
|
RCV001219754 rs1749811506 |
384 | G>S | No |
ClinVar dbSNP |
|
| rs587776701 | 385 | N>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362828312 RCV001067638 CA360268352 |
385 | N>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA3327808 RCV001214222 rs765235885 |
386 | I>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA360268385 rs1207567423 |
388 | I>F | No |
ClinGen gnomAD |
|
|
RCV001347415 rs1749812234 |
389 | G>D | No |
ClinVar dbSNP |
|
|
rs1749812234 RCV001205876 |
389 | G>V | No |
ClinVar dbSNP |
|
|
rs1288602933 CA360268408 |
390 | I>V | No |
ClinGen gnomAD |
|
|
rs1561439485 CA360268814 |
392 | G>* | No |
ClinGen Ensembl |
|
|
CA360268824 rs1580556391 |
394 | Q>* | No |
ClinGen Ensembl |
|
|
CA360268833 rs1475595202 |
395 | P>S | No |
ClinGen gnomAD |
|
|
rs1749902347 RCV001233087 |
396 | A>C | No |
ClinVar dbSNP |
|
|
CA360268839 rs1166928107 |
396 | A>T | No |
ClinGen gnomAD |
|
|
rs773157190 CA3327832 |
397 | T>I | No |
ClinGen ExAC gnomAD |
|
|
RCV001339928 rs773157190 |
397 | T>K | No |
ClinVar dbSNP |
|
|
rs1749902520 RCV001243459 |
398 | G>D | No |
ClinVar dbSNP |
|
|
rs766133817 CA3327834 |
399 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs200365261 CA121297205 |
399 | E>K | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1393912412 CA360268877 |
402 | F>C | No |
ClinGen gnomAD |
|
|
rs753497335 CA3327835 |
404 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1749903265 RCV001224881 |
405 | F>Y | No |
ClinVar dbSNP |
|
|
CA360268925 rs1355464585 |
409 | A>T | No |
ClinGen gnomAD |
|
|
rs764885728 RCV001049552 |
411 | R>L | No |
ClinVar dbSNP |
|
|
rs1580556462 RCV000803603 CA360268941 |
412 | S>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs879006486 CA121297227 |
413 | E>* | No |
ClinGen Ensembl |
|
|
rs1580556474 CA360268966 |
416 | T>P | No |
ClinGen Ensembl |
|
|
rs778162840 RCV001234432 |
417 | R>L | No |
ClinVar dbSNP |
|
|
rs1749904722 RCV001305568 TCGA novel |
418 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinVar dbSNP |
|
rs1580556499 RCV000814946 |
420 | S>K | No |
ClinVar dbSNP |
|
|
CA360268994 rs1418669713 |
420 | S>R | No |
ClinGen gnomAD |
|
|
CA360268997 rs1163885214 |
421 | L>P | No |
ClinGen gnomAD |
|
|
RCV000809234 rs1580556519 CA360269009 |
423 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs775653543 CA3327846 |
426 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs768726273 CA3327848 |
429 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292393470 CA360269049 |
430 | S>A | No |
ClinGen TOPMed |
|
|
rs1292393470 RCV001228383 |
430 | S>P | No |
ClinVar dbSNP |
|
| TCGA novel | 431 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1749906415 RCV001224552 |
432 | L>missing | No |
ClinVar dbSNP |
|
|
RCV001231285 rs1391263628 |
433 | S>T | No |
ClinVar dbSNP |
|
|
RCV001209995 CA3327854 rs765012540 |
434 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA360269069 rs765012540 |
434 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA360269086 RCV001067946 rs1336202860 |
436 | T>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA360269104 rs1348830157 |
439 | L>F | No |
ClinGen gnomAD |
|
|
CA360269109 RCV001352556 rs1415582194 |
440 | I>L | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1231232313 CA360269118 RCV001297309 |
441 | H>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 442 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3327859 rs752066199 |
443 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs925623233 RCV000795235 CA360269137 |
444 | T>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs925623233 CA121297334 |
444 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3327860 rs757763271 |
445 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3327862 rs750818923 |
447 | S>T | No |
ClinGen ExAC gnomAD |
|
|
RCV001317708 rs1743268633 |
448 | V>M | No |
ClinVar dbSNP |
|
|
rs1743268671 RCV001314727 |
449 | Q>K | No |
ClinVar dbSNP |
|
|
CA121292263 rs780395319 |
449 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360273369 rs1268841150 |
452 | R>K | No |
ClinGen gnomAD |
|
|
rs1743269142 RCV001224432 |
453 | I>N | No |
ClinVar dbSNP |
|
|
CA360273374 rs1361496014 |
453 | I>V | No |
ClinGen gnomAD |
|
|
CA360273381 rs144798521 RCV000793607 |
454 | R>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1580587394 CA360273382 |
455 | V>I | No |
ClinGen Ensembl |
|
|
rs1273771754 CA360273394 RCV001066691 |
456 | E>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs963234468 CA360273391 |
456 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1743269725 RCV001343153 |
457 | R>G | No |
ClinVar dbSNP |
|
|
rs745733805 CA3327888 |
457 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs185229240 RCV001216608 |
459 | D>G | No |
ClinVar dbSNP |
|
|
rs185229240 CA3327889 |
459 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3327891 rs535750004 |
460 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1419188316 CA360273499 |
465 | Y>* | No |
ClinGen gnomAD |
|
|
rs919116149 CA121292333 RCV001337942 |
467 | H>D | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1316678832 RCV001237109 CA360273558 |
467 | H>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
RCV001346749 CA360273556 rs1316678832 |
467 | H>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
RCV001225634 rs773779617 |
468 | A>G | No |
ClinVar dbSNP |
|
|
CA3327896 rs773779617 |
468 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3327897 rs761160657 RCV001226550 |
469 | F>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV000824142 rs1580587461 CA360273589 |
470 | Q>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1743271858 RCV001206940 |
470 | Q>R | No |
ClinVar dbSNP |
|
|
CA3327898 rs766775007 |
471 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV001062084 rs772520703 |
473 | T>missing | No |
ClinVar dbSNP |
|
|
rs1743272091 RCV001065748 |
473 | T>missing | No |
ClinVar dbSNP |
|
|
CA3327899 rs754194859 RCV001042599 |
473 | T>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs755255100 CA3327901 |
473 | T>I | No |
ClinGen ExAC |
|
| TCGA novel | 474 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3327903 rs752802297 |
475 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA360273670 rs1398195482 |
476 | Y>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 478 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446211002 CA360273699 |
479 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1188011873 CA360273710 |
480 | T>A | No |
ClinGen gnomAD |
|
|
CA360273718 rs1580587510 |
480 | T>I | No |
ClinGen Ensembl |
|
|
rs1580587516 CA360273751 |
483 | I>T | No |
ClinGen Ensembl |
|
|
CA360273746 rs1259090108 |
483 | I>V | No |
ClinGen gnomAD |
|
|
rs1743273111 RCV001218451 |
484 | K>missing | No |
ClinVar dbSNP |
|
|
CA360273785 rs1580587521 RCV000792418 |
485 | G>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001061992 rs1743352233 |
485 | G>V | No |
ClinVar dbSNP |
|
|
rs1434325127 CA360274147 |
486 | S>C | No |
ClinGen gnomAD |
|
|
CA360274178 rs749116282 |
491 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408304849 CA360274176 |
491 | G>R | No |
ClinGen gnomAD |
|
|
RCV001317953 rs1743352716 |
492 | I>S | No |
ClinVar dbSNP |
|
|
RCV001339882 rs754870896 CA3327935 |
493 | V>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA3327936 rs778563277 |
494 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs747887435 CA3327937 |
494 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1743353000 RCV001229095 |
497 | K>R | No |
ClinVar dbSNP |
|
|
rs1743353148 RCV001344898 |
499 | V>missing | No |
ClinVar dbSNP |
|
|
CA3327941 rs770367587 |
501 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360274242 rs770367587 |
501 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 505 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759956134 CA3327943 |
505 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA360274294 rs764435977 |
509 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs751775883 CA3327948 |
510 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA360274324 rs1167408342 |
513 | F>L | No |
ClinGen gnomAD |
|
|
rs1743354241 RCV001326580 |
514 | N>H | No |
ClinVar dbSNP |
|
|
RCV000791812 rs1580589429 |
515 | L>missing | No |
ClinVar dbSNP |
|
|
rs761992028 CA3327950 |
516 | E>G | No |
ClinGen ExAC gnomAD |
|
|
RCV001239165 rs1743355453 |
518 | M>missing | No |
ClinVar dbSNP |
|
|
CA360274362 rs1329854315 |
518 | M>I | No |
ClinGen TOPMed |
|
|
RCV001304059 CA360274358 rs1323813414 |
518 | M>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs767492134 CA3327951 RCV000812270 |
518 | M>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA3327952 rs753874943 |
520 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA360274369 rs1392463069 |
520 | S>T | No |
ClinGen TOPMed |
|
|
rs754853167 CA3327953 |
522 | P>L | No |
ClinGen ExAC gnomAD |
|
|
RCV001306441 rs55724159 CA3327976 |
524 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA360274435 rs1204734473 |
527 | Q>* | No |
ClinGen gnomAD |
|
|
rs1561462368 CA360274439 RCV001051081 |
527 | Q>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA360274445 rs1380314630 |
528 | L>R | No |
ClinGen TOPMed |
|
|
rs758191157 RCV001035282 |
529 | S>L | No |
ClinVar dbSNP |
|
|
rs777539499 CA3327978 |
531 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 531 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360274472 rs1337425751 |
532 | M>I | No |
ClinGen gnomAD |
|
|
CA360274477 rs1321121530 |
533 | E>* | No |
ClinGen TOPMed |
|
|
RCV000805342 rs1321121530 CA360274475 |
533 | E>K | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
RCV001045053 rs1743612890 |
534 | F>I | No |
ClinVar dbSNP |
|
|
CA360274491 rs1475486581 |
535 | M>L | No |
ClinGen gnomAD |
|
|
rs1475486581 RCV001338712 |
535 | M>V | No |
ClinVar dbSNP |
|
|
CA360274505 rs1333806808 RCV001064011 |
537 | I>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1379011618 CA360274519 RCV001313019 |
539 | G>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
RCV001349571 rs755593955 CA3327983 |
540 | T>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs755593955 CA360274529 |
540 | T>K | No |
ClinGen ExAC gnomAD |
|
|
RCV001301407 rs1743614415 |
545 | L>V | No |
ClinVar dbSNP |
|
|
rs1580597385 RCV000806266 |
548 | L>missing | No |
ClinVar dbSNP |
|
|
rs1743614623 RCV001298289 |
548 | L>P | No |
ClinVar dbSNP |
|
|
rs530506717 RCV001309165 |
549 | Q>H | No |
ClinVar dbSNP |
|
|
rs1315479085 CA360274594 |
550 | N>I | No |
ClinGen gnomAD |
|
|
rs1334302617 CA360274604 |
551 | Q>H | No |
ClinGen gnomAD |
|
|
RCV001296674 rs1743678578 |
552 | T>A | No |
ClinVar dbSNP |
|
|
rs929319397 CA121301391 RCV001204071 |
553 | D>A | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs755514051 RCV001340544 |
554 | M>R | No |
ClinVar dbSNP |
|
|
CA360274629 rs1249728982 |
554 | M>V | No |
ClinGen gnomAD |
|
|
RCV000812305 rs1289149146 CA360274645 |
556 | T>A | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
RCV000794443 rs1580599361 CA360274651 |
557 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA360274654 rs779526052 |
557 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779526052 CA3328007 |
557 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542448674 CA121301410 RCV001351776 CA360274676 |
560 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA360274688 rs1395288001 |
562 | W>* | No |
ClinGen gnomAD |
|
|
CA3328008 rs748479596 |
563 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1580599392 CA360274706 |
565 | D>A | No |
ClinGen Ensembl |
|
|
RCV001055890 rs1743679783 |
565 | D>E | No |
ClinVar dbSNP |
|
|
RCV001309376 rs1743679702 |
565 | D>N | No |
ClinVar dbSNP |
|
|
rs1580599393 CA360274720 RCV000823467 |
567 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001302742 rs1042542951 CA121301426 |
568 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs772419130 CA3328009 |
569 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1743680441 RCV001203546 |
572 | G>R | No |
ClinVar dbSNP |
|
|
CA3328014 rs762918386 |
575 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3328015 rs764040844 |
576 | L>* | No |
ClinGen ExAC |
|
|
RCV001056406 rs1743681162 |
577 | K>N | No |
ClinVar dbSNP |
|
|
rs1743681215 RCV001240570 |
578 | K>E | No |
ClinVar dbSNP |
|
|
rs774216885 CA3328016 |
579 | W>G | No |
ClinGen ExAC |
|
|
rs779028594 CA121301482 |
581 | T>N | No |
ClinGen Ensembl |
|
|
rs200221632 CA3328018 |
581 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs750104015 CA3328019 |
582 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA360274826 rs1489250997 |
584 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 585 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1580599485 CA360274840 |
586 | K>R | No |
ClinGen Ensembl |
|
|
RCV001050118 rs776738086 |
587 | L>missing | No |
ClinVar dbSNP |
|
|
rs766030476 CA3328022 |
588 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs766156923 CA3328040 |
589 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs766156923 RCV001223244 |
589 | E>K | No |
ClinVar dbSNP |
|
|
CA360276495 rs1381008649 |
592 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
RCV001040232 rs764832633 |
593 | R>L | No |
ClinVar dbSNP |
|
|
rs148162799 CA360276515 |
596 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3328046 rs148162799 |
596 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360276517 rs1580027442 RCV000813263 |
597 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs751983772 CA3328047 |
598 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA360276539 rs1474084576 |
600 | V>G | No |
ClinGen gnomAD |
|
|
CA3328051 rs769922097 |
601 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs77904128 CA121314582 |
602 | H>P | No |
ClinGen Ensembl |
|
|
rs77904128 RCV001211108 |
602 | H>R | No |
ClinVar dbSNP |
|
|
rs751907249 RCV001237078 |
603 | S>P | No |
ClinVar dbSNP |
|
|
CA360276569 RCV000819111 rs1406056254 |
605 | S>C | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1406056254 CA360276570 |
605 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1580027554 RCV000819112 CA360276584 |
608 | F>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3328057 rs770779948 |
609 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1744035196 RCV001303397 |
609 | G>D | No |
ClinVar dbSNP |
|
|
rs1360794165 CA360276598 |
610 | Q>* | No |
ClinGen gnomAD |
|
|
CA360276597 rs1360794165 |
610 | Q>E | No |
ClinGen gnomAD |
|
|
rs1744035388 RCV001337822 |
611 | I>T | No |
ClinVar dbSNP |
|
|
rs1744035337 RCV001247504 |
611 | I>V | No |
ClinVar dbSNP |
|
|
RCV000803821 rs1580027596 CA360276630 |
614 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1744036657 RCV001296181 |
617 | K>R | No |
ClinVar dbSNP |
|
|
CA3328064 rs751945551 |
618 | L>F | No |
ClinGen ExAC |
|
|
rs200337887 CA360276662 |
620 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200337887 RCV001306561 |
620 | D>Y | No |
ClinVar dbSNP |
|
|
RCV001202626 rs1444622729 |
621 | I>L | No |
ClinVar dbSNP |
|
|
CA3328067 rs750694528 |
621 | I>R | No |
ClinGen ExAC gnomAD |
|
|
CA121314677 rs750694528 |
621 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1444622729 CA360276670 RCV000813112 |
621 | I>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
RCV001338409 rs1744037138 |
622 | E>K | No |
ClinVar dbSNP |
|
|
rs1440730000 CA360276687 |
623 | R>S | No |
ClinGen gnomAD |
|
|
rs1744037495 RCV001227531 |
625 | L>missing | No |
ClinVar dbSNP |
|
|
CA121314722 rs914119339 |
625 | L>F | No |
ClinGen TOPMed |
|
|
CA360276709 rs1473854805 |
627 | S>N | No |
ClinGen TOPMed |
|
|
CA3328070 rs749412087 |
627 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1744037996 RCV001301179 |
628 | I>V | No |
ClinVar dbSNP |
|
|
RCV001351013 rs1744038037 |
629 | Y>H | No |
ClinVar dbSNP |
|
|
CA3328072 rs777767431 |
630 | H>P | No |
ClinGen ExAC |
|
|
RCV001239296 rs1744038356 |
632 | K>missing | No |
ClinVar dbSNP |
|
|
CA360277430 rs1561471261 |
633 | C>Y | No |
ClinGen Ensembl |
|
|
CA3328095 rs781236466 |
634 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000791523 rs769417932 CA3328096 |
635 | T>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA121319870 rs879064574 |
638 | F>I | No |
ClinGen Ensembl |
|
| TCGA novel | 639 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001232536 rs1744150383 |
642 | V>I | No |
ClinVar dbSNP |
|
|
CA360277493 rs1478729377 |
643 | K>E | No |
ClinGen gnomAD |
|
|
CA360277505 rs1367636496 |
644 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1367636496 RCV001344325 |
644 | T>S | No |
ClinVar dbSNP |
|
|
RCV000797492 rs1580033761 CA360277514 |
646 | Y>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000795853 rs1580033778 CA360277539 |
649 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 649 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001228778 rs1744151040 |
654 | A>V | No |
ClinVar dbSNP |
|
|
RCV001222870 rs1744151374 |
656 | I>K | No |
ClinVar dbSNP |
|
|
CA3328105 RCV001046265 rs761101728 |
656 | I>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA121319948 rs945430450 |
658 | A>G | No |
ClinGen TOPMed |
|
|
CA360277599 rs945430450 |
658 | A>V | No |
ClinGen TOPMed |
|
|
RCV001317475 rs1744152253 |
665 | S>L | No |
ClinVar dbSNP |
|
|
CA360277680 rs1216185705 |
665 | S>P | No |
ClinGen gnomAD |
|
|
CA3328108 rs759657866 |
666 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs574753145 CA3328109 |
667 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs888955838 CA121320018 |
672 | I>T | No |
ClinGen TOPMed |
|
|
rs1361846876 CA360277780 |
674 | E>D | No |
ClinGen gnomAD |
|
|
CA360277769 rs1158874938 |
674 | E>K | No |
ClinGen gnomAD |
|
|
RCV001236724 rs1744153796 |
675 | I>M | No |
ClinVar dbSNP |
|
|
RCV001350957 rs1205179803 CA360277808 |
677 | E>Q | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs779690872 CA3328115 |
679 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs779690872 RCV001345138 CA360277833 |
679 | L>F | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1744154059 RCV001310001 |
680 | S>T | No |
ClinVar dbSNP |
|
|
rs145657887 CA360277864 |
682 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360277880 rs1315205398 |
683 | E>D | No |
ClinGen gnomAD |
|
|
rs1744154587 RCV001068110 |
686 | L>V | No |
ClinVar dbSNP |
|
|
RCV001341878 rs1239649725 |
687 | K>R | No |
ClinVar dbSNP |
|
|
CA360277928 rs1239649725 |
687 | K>T | No |
ClinGen gnomAD |
|
|
CA360277954 rs1561471344 |
690 | N>D | No |
ClinGen Ensembl |
|
|
CA3328123 rs761077637 |
691 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA360277967 rs761077637 RCV001317106 |
691 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1167298695 CA360277979 |
692 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
RCV000817403 CA360278012 rs1580034033 |
695 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA3328140 rs556074597 |
696 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA121320625 rs1011582720 |
698 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA360279244 rs1487268212 |
703 | F>I | No |
ClinGen gnomAD |
|
|
rs1744168483 RCV001346931 |
703 | F>L | No |
ClinVar dbSNP |
|
|
CA360279259 rs1299284264 |
704 | K>N | No |
ClinGen gnomAD |
|
|
rs575812929 CA121320641 |
705 | D>E | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1744168969 RCV001225465 |
709 | F>L | No |
ClinVar dbSNP |
|
|
CA3328143 RCV001322239 rs746233320 |
710 | P>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
RCV000812624 CA360279324 rs746233320 |
710 | P>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA360279328 rs1580034843 |
711 | L>I | No |
ClinGen Ensembl |
|
|
rs369015749 CA3328145 |
712 | I>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA360279342 RCV000819733 rs1580034857 |
712 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 713 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1274995755 CA360279401 |
716 | K>N | No |
ClinGen TOPMed |
|
|
rs764309261 CA3328148 |
719 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1580034896 RCV000810371 CA360279437 |
719 | I>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs761901103 CA3328150 RCV000793948 |
721 | G>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1434492542 CA360279460 |
721 | G>C | No |
ClinGen gnomAD |
|
|
rs1434492542 RCV000813500 CA360279458 |
721 | G>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs766237486 RCV001244401 |
722 | V>I | No |
ClinVar dbSNP |
|
|
rs1744169857 RCV001326557 |
723 | I>T | No |
ClinVar dbSNP |
|
|
rs541680738 CA360279500 RCV001203821 |
724 | D>E | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA3328152 rs753738812 |
724 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 725 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444016720 RCV001300009 CA360279509 |
725 | E>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1219188176 CA360279526 |
726 | I>M | No |
ClinGen gnomAD |
|
|
RCV001209442 rs1744170415 |
729 | H>R | No |
ClinVar dbSNP |
|
| TCGA novel | 729 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746372859 RCV001339270 CA3328161 |
732 | E>A | No |
ClinGen ClinVar ExAC dbSNP |
|
|
rs775965601 CA3328163 RCV001232404 |
735 | K>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
RCV001064982 rs1580035037 |
738 | K>E | No |
ClinVar dbSNP |
|
|
RCV001036372 rs1580035033 RCV000801643 |
739 | N>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 739 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1744170972 RCV001050127 |
739 | N>S | No |
ClinVar dbSNP |
|
|
rs1744171168 RCV001230414 |
741 | S>T | No |
ClinVar dbSNP |
|
|
CA3328165 rs373556898 |
742 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1350652736 CA360279722 |
743 | Q>* | No |
ClinGen gnomAD |
|
|
rs1744171476 RCV001233399 |
743 | Q>L | No |
ClinVar dbSNP |
|
|
rs1228057455 CA360279738 |
744 | Y>C | No |
ClinGen gnomAD |
|
|
RCV001325330 rs1228057455 |
744 | Y>F | No |
ClinVar dbSNP |
|
|
RCV001212650 CA360279759 rs1339944312 |
746 | T>A | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
RCV001322894 rs1744171867 |
747 | V>A | No |
ClinVar dbSNP |
|
|
rs1280047371 CA360279769 |
747 | V>I | No |
ClinGen gnomAD |
|
|
rs527397856 CA3328169 |
751 | E>D | No |
ClinGen 1000Genomes ExAC |
|
|
CA360280685 rs1171721024 |
753 | M>I | No |
ClinGen gnomAD |
|
|
rs1744285293 RCV001309700 |
753 | M>L | No |
ClinVar dbSNP |
|
|
rs1308102846 CA360280721 |
755 | E>D | No |
ClinGen gnomAD |
|
|
CA360280745 rs1293321412 |
757 | K>R | No |
ClinGen TOPMed |
|
|
RCV001203566 rs1744285969 |
760 | A>P | No |
ClinVar dbSNP |
|
|
RCV001327531 rs1744285969 |
760 | A>T | No |
ClinVar dbSNP |
|
|
RCV001065692 rs1580042050 |
760 | A>V | No |
ClinVar dbSNP |
|
|
CA121325881 rs1008476275 |
764 | I>T | No |
ClinGen gnomAD |
|
|
CA360280879 rs1397708022 |
765 | P>L | No |
ClinGen TOPMed |
|
|
RCV001217666 rs1397708022 |
765 | P>R | No |
ClinVar dbSNP |
|
|
rs1462955256 RCV001071266 |
767 | D>missing | No |
ClinVar dbSNP |
|
|
rs1177217872 CA360280913 |
767 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 775 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765970162 CA3328224 |
776 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs765970162 RCV001228877 |
776 | A>V | No |
ClinVar dbSNP |
|
|
rs1463685041 CA360281738 |
780 | F>V | No |
ClinGen TOPMed |
|
|
RCV001303561 rs1744350926 |
782 | S>F | No |
ClinVar dbSNP |
|
|
CA360281757 rs778848549 |
783 | P>S | No |
ClinGen gnomAD |
|
|
rs777977568 CA3328230 |
784 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
RCV000800623 CA3328231 rs747229778 |
786 | V>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA121328148 rs770656132 |
788 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA360281798 rs965659126 |
789 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
VAR_055251 CA121328156 rs10067975 |
789 | Y>F | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1327575538 CA360281811 |
791 | H>Q | No |
ClinGen gnomAD |
|
|
rs961327841 CA360281814 |
792 | L>V | No |
ClinGen TOPMed |
|
|
rs1282862844 CA360281833 |
794 | Q>H | No |
ClinGen gnomAD |
|
|
rs768661033 CA3328235 |
795 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs542104580 CA360281840 |
796 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760376846 CA3328240 |
798 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs555670202 CA360281858 |
799 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1443981877 CA360281862 |
800 | V>D | No |
ClinGen TOPMed |
|
|
RCV001350798 rs56084344 CA121328261 |
802 | D>H | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs56084344 CA3328242 |
802 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758926262 CA360281882 |
803 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1165114619 CA360281886 RCV000796765 |
804 | S>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1411328201 CA360281888 |
804 | S>T | No |
ClinGen TOPMed |
|
|
rs1415737294 CA360281892 |
805 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 806 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298318722 CA360281905 |
806 | E>D | No |
ClinGen gnomAD |
|
|
rs1744356274 RCV001038215 |
807 | W>* | No |
ClinVar dbSNP |
|
|
RCV001224265 rs1744356314 |
808 | L>F | No |
ClinVar dbSNP |
|
|
rs1580045704 CA360281919 |
808 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 809 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1744531191 RCV001035001 |
815 | S>N | No |
ClinVar dbSNP |
|
| TCGA novel | 817 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311790719 CA360283014 |
818 | Y>C | No |
ClinGen gnomAD |
|
|
CA3328264 rs776124290 |
819 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs369296425 CA3328265 |
820 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV001307998 rs1744531800 |
822 | C>S | No |
ClinVar dbSNP |
|
|
rs1217678820 RCV001036390 |
825 | V>L | No |
ClinVar dbSNP |
|
|
rs757883022 CA121335438 |
826 | H>R | No |
ClinGen Ensembl |
|
|
RCV001327026 rs757559592 CA3328268 |
826 | H>Y | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
RCV001054795 rs1744532327 |
830 | T>N | No |
ClinVar dbSNP |
|
|
rs1580051149 RCV001344521 |
833 | C>F | No |
ClinVar dbSNP |
|
|
CA360283268 rs1580051149 RCV000793756 |
833 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1744532526 RCV001209323 |
835 | F>missing | No |
ClinVar dbSNP |
|
|
rs954392054 CA121335478 |
835 | F>V | No |
ClinGen TOPMed |
|
|
RCV001055139 rs1744532828 |
838 | A>T | No |
ClinVar dbSNP |
|
|
rs1744532877 RCV001039095 |
838 | A>V | No |
ClinVar dbSNP |
|
|
CA360283386 rs1561478663 |
840 | V>F | No |
ClinGen Ensembl |
|
|
CA121335503 rs963584392 |
841 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
RCV001238640 rs1580051177 CA360283417 |
844 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA360283424 RCV000823800 rs1335381574 |
845 | D>H | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1744533534 RCV001070956 |
846 | Y>D | No |
ClinVar dbSNP |
|
|
rs1744533587 RCV001036556 |
846 | Y>S | No |
ClinVar dbSNP |
|
|
CA360283462 rs1451973481 |
847 | C>Y | No |
ClinGen TOPMed |
|
|
rs1291821715 CA360272847 |
852 | Q>R | No |
ClinGen gnomAD |
|
|
rs1744629924 RCV001242056 |
853 | E>D | No |
ClinVar dbSNP |
|
|
CA3328296 rs751542454 |
853 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1580053675 RCV000798012 |
854 | E>missing | No |
ClinVar dbSNP |
|
|
rs1358393913 CA360272869 |
855 | R>K | No |
ClinGen TOPMed |
|
|
CA121296506 rs1025319425 |
857 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1580053702 CA360272886 |
858 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 861 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs35196236 CA121296554 |
864 | H>L | No |
ClinGen Ensembl |
|
|
rs1744630680 RCV001301238 |
865 | P>A | No |
ClinVar dbSNP |
|
|
RCV001349693 rs1744630742 |
866 | V>L | No |
ClinVar dbSNP |
|
|
CA3328302 rs748799871 |
869 | V>A | No |
ClinGen ExAC |
|
|
rs1744631488 RCV001218114 |
876 | Q>E | No |
ClinVar dbSNP |
|
|
CA360273010 rs762283041 |
876 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360273016 rs1290348286 |
877 | Y>S | No |
ClinGen gnomAD |
|
|
CA360273038 rs1376745635 |
880 | N>K | No |
ClinGen gnomAD |
|
|
rs1744631817 RCV001047495 |
880 | N>S | No |
ClinVar dbSNP |
|
|
RCV001216163 rs1744631908 |
881 | N>T | No |
ClinVar dbSNP |
|
|
RCV001299041 rs1744631960 |
882 | T>A | No |
ClinVar dbSNP |
|
|
rs1580053760 RCV001210944 |
883 | D>missing | No |
ClinVar dbSNP |
|
|
CA121296593 rs896080306 |
883 | D>Y | No |
ClinGen Ensembl |
|
|
RCV001218784 rs1744632481 |
885 | S>L | No |
ClinVar dbSNP |
|
|
rs1561486624 RCV001352602 |
886 | E>A | No |
ClinVar dbSNP |
|
|
CA360273803 rs1561486624 |
886 | E>G | No |
ClinGen Ensembl |
|
|
rs1745046098 RCV001233325 |
887 | D>V | No |
ClinVar dbSNP |
|
|
rs772476641 RCV001209244 |
891 | V>A | No |
ClinVar dbSNP |
|
| TCGA novel | 891 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747341239 CA3328326 |
893 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1431176492 CA360273855 |
894 | I>F | No |
ClinGen TOPMed |
|
|
RCV001052042 rs1163941898 CA360273874 |
897 | P>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1745047109 RCV001049675 |
899 | M>I | No |
ClinVar dbSNP |
|
|
CA360273887 rs1176811235 |
899 | M>T | No |
ClinGen gnomAD |
|
|
rs763041578 CA3328332 |
902 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA360273922 rs1561486672 |
904 | S>C | No |
ClinGen Ensembl |
|
|
rs1745047389 RCV001224344 |
904 | S>P | No |
ClinVar dbSNP |
|
|
CA3328334 rs767359174 |
906 | I>L | No |
ClinGen ExAC TOPMed |
|
|
rs1218395933 CA360273936 |
906 | I>M | No |
ClinGen TOPMed |
|
|
rs755919951 CA3328336 |
907 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1745048014 RCV001046086 |
909 | V>G | No |
ClinVar dbSNP |
|
|
rs1272631581 RCV001201535 CA360273952 |
909 | V>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
RCV001219715 rs1745048127 |
910 | A>T | No |
ClinVar dbSNP |
|
|
rs145977077 RCV001309425 |
913 | T>I | No |
ClinVar dbSNP |
|
|
rs145977077 RCV001324629 |
913 | T>N | No |
ClinVar dbSNP |
|
|
CA3328342 rs757861627 |
914 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747542374 CA3328344 |
915 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3328343 rs200945869 |
915 | M>L | No |
ClinGen ExAC gnomAD |
|
|
RCV001056219 rs1745048752 |
915 | M>R | No |
ClinVar dbSNP |
|
|
RCV001242804 rs1580066514 |
916 | A>S | No |
ClinVar dbSNP |
|
|
rs1561486726 CA360274004 |
918 | I>V | No |
ClinGen Ensembl |
|
|
rs1580066529 RCV001206461 |
919 | G>V | No |
ClinVar dbSNP |
|
|
rs763008024 CA3328351 |
923 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 926 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001212484 rs1580066566 |
926 | E>A | No |
ClinVar dbSNP |
|
|
RCV001060730 rs1580066566 |
926 | E>G | No |
ClinVar dbSNP |
|
|
RCV001300325 rs1745049937 |
928 | T>R | No |
ClinVar dbSNP |
|
|
CA360274076 rs1270037019 |
930 | G>E | No |
ClinGen gnomAD |
|
|
RCV001294913 rs1745050380 |
932 | V>A | No |
ClinVar dbSNP |
|
|
rs183284764 CA121307581 |
933 | D>N | No |
ClinGen 1000Genomes |
|
|
rs757908059 CA3328360 |
934 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1580066605 RCV000823848 |
936 | F>missing | No |
ClinVar dbSNP |
|
|
CA3328361 rs777318930 |
937 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA3328378 COSM3828540 rs762638626 |
938 | R>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA360275463 rs763614470 |
940 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756771653 CA3328381 |
941 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001204543 CA121338430 rs763523970 |
946 | Y>C | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA360275501 rs1377948333 |
946 | Y>H | No |
ClinGen gnomAD |
|
|
CA360275518 rs1561499960 |
948 | G>E | No |
ClinGen Ensembl |
|
|
rs184967 CA360275524 |
949 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs184967 CA360275523 |
949 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1745877173 RCV001345998 |
950 | S>G | No |
ClinVar dbSNP |
|
|
CA360275534 rs370312921 RCV000804597 |
950 | S>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001218346 rs528928531 |
953 | M>V | No |
ClinVar dbSNP |
|
|
rs1580091502 RCV000801685 CA360275578 |
957 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA360275586 rs1471719512 |
958 | D>N | No |
ClinGen gnomAD |
|
|
RCV001325134 rs1745877870 |
960 | A>E | No |
ClinVar dbSNP |
|
|
CA3328390 rs748227776 |
960 | A>P | No |
ClinGen ExAC gnomAD |
|
|
RCV001315805 rs1745877938 |
961 | E>D | No |
ClinVar dbSNP |
|
|
RCV001237710 rs1745878088 |
963 | I>missing | No |
ClinVar dbSNP |
|
|
rs776609799 CA3328393 |
964 | R>K | No |
ClinGen ExAC gnomAD |
|
|
RCV001348503 rs1745878452 |
967 | T>I | No |
ClinVar dbSNP |
|
| TCGA novel | 969 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360275667 rs1467148783 |
970 | S>A | No |
ClinGen gnomAD |
|
|
rs375949196 CA3328398 |
975 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1194199991 CA360275718 |
978 | G>R | No |
ClinGen TOPMed |
|
|
RCV001042167 rs1174658305 |
979 | R>K | No |
ClinVar dbSNP |
|
|
rs1745879445 RCV001326951 |
980 | G>A | No |
ClinVar dbSNP |
|
|
RCV001038718 rs1745879445 |
980 | G>E | No |
ClinVar dbSNP |
|
|
CA360275730 rs1405849573 |
980 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 981 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001211772 rs1745879719 |
982 | S>C | No |
ClinVar dbSNP |
|
|
CA121338607 rs977539924 |
984 | H>Q | No |
ClinGen gnomAD |
|
|
RCV001309697 rs1745879944 |
986 | G>VSAHQILTSDTY | No |
ClinVar dbSNP |
|
|
rs1745879990 RCV001298271 |
987 | I>M | No |
ClinVar dbSNP |
|
|
rs1745880202 RCV001348003 |
990 | A>F | No |
ClinVar dbSNP |
|
|
rs755228303 RCV001313616 |
993 | T>S | No |
ClinVar dbSNP |
|
|
RCV001037287 rs1746072718 |
1003 | S>Y | No |
ClinVar dbSNP |
|
|
rs1208722359 CA360346076 |
1005 | T>N | No |
ClinGen TOPMed |
|
|
rs757219540 CA3328433 |
1008 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001339044 rs1200660969 |
1011 | Y>C | No |
ClinVar dbSNP |
|
|
rs1200660969 RCV001308174 CA360346152 |
1011 | Y>F | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1746073412 RCV001057576 |
1014 | V>A | No |
ClinVar dbSNP |
|
|
CA360346190 rs1229168817 |
1015 | C>S | No |
ClinGen TOPMed |
|
|
rs1746073578 RCV001046369 |
1017 | L>P | No |
ClinVar dbSNP |
|
| rs973992111 | 1020 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1746073687 RCV001061644 |
1020 | N>I | No |
ClinVar dbSNP |
|
| TCGA novel | 1020 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001296744 rs1580098615 |
1021 | Y>D | No |
ClinVar dbSNP |
|
| TCGA novel | 1022 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1026488490 CA121752175 |
1023 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1360707512 CA360346315 |
1024 | Q>K | No |
ClinGen gnomAD |
|
|
CA3328442 RCV001227703 rs375336744 |
1025 | V>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777247211 RCV001205731 CA3328443 |
1027 | N>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1455214605 CA360346358 |
1028 | Y>* | No |
ClinGen TOPMed |
|
|
rs765696344 CA360346366 |
1029 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1250131887 CA360346376 |
1030 | M>I | No |
ClinGen gnomAD |
|
|
rs1746074529 RCV001241707 |
1030 | M>V | No |
ClinVar dbSNP |
|
|
CA360346381 rs1183003748 |
1031 | G>A | No |
ClinGen gnomAD |
|
|
rs753087326 CA3328446 |
1033 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA360346391 rs1385948954 |
1033 | L>V | No |
ClinGen gnomAD |
|
|
rs1746074934 RCV001347869 |
1035 | S>G | No |
ClinVar dbSNP |
|
|
rs763246818 CA360346410 |
1035 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs763246818 CA3328447 |
1035 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA360346427 rs1478748983 |
1036 | E>D | No |
ClinGen gnomAD |
|
|
CA360346415 rs1580098699 RCV000812995 |
1036 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1454115884 CA360346440 |
1037 | D>G | No |
ClinGen gnomAD |
|
|
rs1344576103 CA360346430 |
1037 | D>N | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360346460 rs1290471693 |
1039 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1039 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360346523 rs1451464888 |
1044 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1746250231 RCV001062567 |
1051 | D>N | No |
ClinVar dbSNP |
|
|
rs1805131 VAR_016163 CA121753089 |
1054 | T>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
RCV001228492 rs188074706 |
1056 | L>I | No |
ClinVar dbSNP |
|
|
rs1363562706 CA360346869 |
1057 | Y>* | No |
ClinGen TOPMed |
|
|
rs752664887 CA3328474 |
1058 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs777682307 CA3328476 |
1060 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA360346885 rs777682307 |
1060 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1561506517 CA360346917 |
1066 | R>G | No |
ClinGen Ensembl |
|
|
RCV001347345 rs769290159 |
1066 | R>K | No |
ClinVar dbSNP |
|
|
CA3328481 rs769290159 |
1066 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs774599531 CA3328485 |
1068 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs769110139 CA3328484 |
1068 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1746251780 RCV001040520 |
1070 | L>S | No |
ClinVar dbSNP |
|
|
CA3328486 rs762178613 |
1071 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA360346961 rs1489181927 |
1073 | A>P | No |
ClinGen gnomAD |
|
|
rs1275166539 CA360346966 |
1073 | A>V | No |
ClinGen TOPMed |
|
|
rs1015430549 CA121753093 |
1075 | L>V | No |
ClinGen TOPMed |
|
|
rs773474817 RCV001299286 |
1077 | D>G | No |
ClinVar dbSNP |
|
|
RCV001045948 rs1746252250 |
1077 | D>N | No |
ClinVar dbSNP |
|
|
rs773474817 CA3328488 |
1077 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs750781725 RCV001036899 CA121753094 |
1079 | P>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA121753096 rs751078695 |
1080 | G>E | No |
ClinGen Ensembl |
|
|
RCV001340770 rs1746252571 |
1080 | G>R | No |
ClinVar dbSNP |
|
|
COSM3429715 rs764045075 CA121753097 |
1082 | I>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3328492 rs752719913 |
1082 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1746252809 RCV002246233 RCV001246115 |
1082 | I>V | No |
ClinVar dbSNP |
|
|
rs1474200311 CA360347046 |
1086 | A>G | No |
ClinGen gnomAD |
|
|
CA360347051 rs1419850679 |
1087 | A>D | No |
ClinGen gnomAD |
|
|
RCV001317625 rs1419850679 |
1087 | A>G | No |
ClinVar dbSNP |
|
|
CA121753098 rs928453595 |
1088 | H>D | No |
ClinGen gnomAD |
|
|
CA360347059 rs1161193466 |
1088 | H>Q | No |
ClinGen gnomAD |
|
|
rs928453595 CA360347055 |
1088 | H>Y | No |
ClinGen gnomAD |
|
|
RCV001223062 rs979702683 |
1089 | K>* | No |
ClinVar dbSNP |
|
|
RCV000793599 rs1580104462 CA360347067 |
1089 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA360347064 RCV000818525 rs1580104459 |
1089 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs960855722 RCV001241963 |
1092 | E>A | No |
ClinVar dbSNP |
|
| TCGA novel | 1092 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204268208 CA360347270 |
1103 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1204268208 CA360347271 |
1103 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3328520 rs753347287 |
1108 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1746297726 RCV001207243 |
1109 | K>E | No |
ClinVar dbSNP |
|
|
rs779346486 RCV001054164 |
1109 | K>N | No |
ClinVar dbSNP |
|
|
RCV001326459 rs1746297912 |
1111 | W>* | No |
ClinVar dbSNP |
|
|
CA360347326 rs1459678591 |
1111 | W>R | No |
ClinGen TOPMed |
|
|
rs1177481443 CA360347359 |
1115 | N>I | No |
ClinGen TOPMed |
|
|
rs1746298598 RCV001035398 |
1117 | Q>* | No |
ClinVar dbSNP |
|
|
rs769908769 CA3328530 |
1123 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA360347414 RCV000809831 rs1580106239 |
1124 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001351631 rs1580106239 |
1124 | E>Q | No |
ClinVar dbSNP |
|
|
rs1580106242 RCV000809573 CA360347422 |
1125 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001036597 rs1746299802 |
1129 | E>Q | No |
ClinVar dbSNP |
|
|
RCV001348014 CA360347476 rs1157191855 |
1132 | Q>E | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1323971320 RCV001320075 |
1132 | Q>H | No |
ClinVar dbSNP |
|
|
rs1580106260 RCV001040271 |
1134 | S>F | No |
ClinVar dbSNP |
|
|
rs750229262 CA3328534 |
1135 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3328536 rs766083073 COSM3669481 |
1136 | L>F | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
2 associated diseases with P20585
[MIM: 608089]: Endometrial cancer (ENDMC)
A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. {ECO:0000305|PubMed:8782829}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 617100]: Familial adenomatous polyposis 4 (FAP4)
A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. FAP4 inheritance is autosomal recessive. {ECO:0000269|PubMed:27476653}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. {ECO:0000305|PubMed:8782829}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. FAP4 inheritance is autosomal recessive. {ECO:0000269|PubMed:27476653}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for P20585
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PWWP domain | 90 - 183 | IPR000313 |
| domain | DNA mismatch repair protein MutS, C-terminal | 1127 - 1323 | IPR000432 |
| domain | DNA mismatch repair protein MutS-like, N-terminal | 407 - 524 | IPR007695 |
| domain | DNA mismatch repair protein MutS, core | 739 - 1102 | IPR007696 |
| domain | DNA mismatch repair protein MutS, connector domain | 538 - 699 | IPR007860 |
| domain | DNA mismatch repair protein MutS, clamp | 932 - 1024 | IPR007861 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| MutSbeta complex | A heterodimer involved in binding to and correcting insertion/deletion mutations. In human the complex consists of two subunits, MSH2 and MSH3. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP-dependent DNA damage sensor activity | A molecule that recognises toxic DNA structures, and initiates a signalling response, driven by ATP hydrolysis. |
| double-stranded DNA binding | Binding to double-stranded DNA. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| mismatched DNA binding | Binding to a double-stranded DNA region containing one or more mismatches. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| maintenance of DNA repeat elements | Any process involved in sustaining the fidelity and copy number of DNA repeat elements. |
| mismatch repair | A system for the correction of errors in which an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. The mismatch repair system promotes genomic fidelity by repairing base-base mismatches, insertion-deletion loops and heterologies generated during DNA replication and recombination. |
| mitotic recombination | The exchange, reciprocal or nonreciprocal, of genetic material between one DNA molecule and a homologous DNA region that occurs during mitotic cell cycles. |
| negative regulation of DNA recombination | Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination. |
| positive regulation of helicase activity | Any process that activates or increases the activity of a helicase. |
| somatic recombination of immunoglobulin gene segments | The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P25336 | MSH3 | DNA mismatch repair protein MSH3 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| O43196 | MSH5 | MutS protein homolog 5 | Homo sapiens (Human) | PR |
| P43246 | MSH2 | DNA mismatch repair protein Msh2 | Homo sapiens (Human) | PR |
| P52701 | MSH6 | DNA mismatch repair protein Msh6 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRRKPASGG | LAASSSAPAR | QAVLSRFFQS | TGSLKSTSSS | TGAADQVDPG | AAAAAAAAAA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AAPPAPPAPA | FPPQLPPHIA | TEIDRRKKRP | LENDGPVKKK | VKKVQQKEGG | SDLGMSGNSE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PKKCLRTRNV | SKSLEKLKEF | CCDSALPQSR | VQTESLQERF | AVLPKCTDFD | DISLLHAKNA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VSSEDSKRQI | NQKDTTLFDL | SQFGSSNTSH | ENLQKTASKS | ANKRSKSIYT | PLELQYIEMK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QQHKDAVLCV | ECGYKYRFFG | EDAEIAAREL | NIYCHLDHNF | MTASIPTHRL | FVHVRRLVAK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GYKVGVVKQT | ETAALKAIGD | NRSSLFSRKL | TALYTKSTLI | GEDVNPLIKL | DDAVNVDEIM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TDTSTSYLLC | ISENKENVRD | KKKGNIFIGI | VGVQPATGEV | VFDSFQDSAS | RSELETRMSS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LQPVELLLPS | ALSEQTEALI | HRATSVSVQD | DRIRVERMDN | IYFEYSHAFQ | AVTEFYAKDT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VDIKGSQIIS | GIVNLEKPVI | CSLAAIIKYL | KEFNLEKMLS | KPENFKQLSS | KMEFMTINGT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TLRNLEILQN | QTDMKTKGSL | LWVLDHTKTS | FGRRKLKKWV | TQPLLKLREI | NARLDAVSEV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LHSESSVFGQ | IENHLRKLPD | IERGLCSIYH | KKCSTQEFFL | IVKTLYHLKS | EFQAIIPAVN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SHIQSDLLRT | VILEIPELLS | PVEHYLKILN | EQAAKVGDKT | ELFKDLSDFP | LIKKRKDEIQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GVIDEIRMHL | QEIRKILKNP | SAQYVTVSGQ | EFMIEIKNSA | VSCIPTDWVK | VGSTKAVSRF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| HSPFIVENYR | HLNQLREQLV | LDCSAEWLDF | LEKFSEHYHS | LCKAVHHLAT | VDCIFSLAKV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| AKQGDYCRPT | VQEERKIVIK | NGRHPVIDVL | LGEQDQYVPN | NTDLSEDSER | VMIITGPNMG |
| 910 | 920 | 930 | 940 | 950 | 960 |
| GKSSYIKQVA | LITIMAQIGS | YVPAEEATIG | IVDGIFTRMG | AADNIYKGQS | TFMEELTDTA |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| EIIRKATSQS | LVILDELGRG | TSTHDGIAIA | YATLEYFIRD | VKSLTLFVTH | YPPVCELEKN |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| YSHQVGNYHM | GFLVSEDESK | LDPGAAEQVP | DFVTFLYQIT | RGIAARSYGL | NVAKLADVPG |
| 1090 | 1100 | 1110 | 1120 | 1130 | |
| EILKKAAHKS | KELEGLINTK | RKRLKYFAKL | WTMHNAQDLQ | KWTEEFNMEE | TQTSLLH |