O96017
EV
Gene name |
CHEK2 (CDS1, CHK2, RAD53) |
Protein name |
Serine/threonine-protein kinase Chk2 |
Names |
CHK2 checkpoint homolog, Cds1 homolog, Hucds1, hCds1, Checkpoint kinase 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11200 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
OVARIAN-SPECIFIC SERINE/THREONINE-PROTEIN KINASE LOK-RELATED (PTHR44167) |
Descriptions
CHEK1 is a serine/threonine protein kinase and is a key mediator that links the machinery that monitors DNA integrity to components of the cell cycle engine. In human CHEK1 protein (O14757). Its full-length CHEK1 has only low basal activity when expressed. Truncation of the C-terminal regulatory region activates CHEK1. In contrast to CHEK1, the full-length CHEK2 is already active as a kinase and can inhibit cell cycle. Thus, it does not contain autoinhibitory regions.
Autoinhibitory domains (AIDs)
Target domain |
No autoinhibition |
Relief mechanism |
|
Assay |
Deletion assay, Mutagenesis experiment |
Accessory elements
367-389 (Activation loop from InterPro)
Target domain |
220-486 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
39 structures for O96017
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1GXC | X-ray | 270 A | A/D/G/J | 64-212 | PDB |
| 2CN5 | X-ray | 225 A | A | 210-531 | PDB |
| 2CN8 | X-ray | 270 A | A | 210-531 | PDB |
| 2W0J | X-ray | 205 A | A | 210-531 | PDB |
| 2W7X | X-ray | 207 A | A | 210-531 | PDB |
| 2WTC | X-ray | 300 A | A | 210-531 | PDB |
| 2WTD | X-ray | 275 A | A | 210-531 | PDB |
| 2WTI | X-ray | 250 A | A | 210-531 | PDB |
| 2WTJ | X-ray | 210 A | A | 210-531 | PDB |
| 2XBJ | X-ray | 230 A | A | 210-531 | PDB |
| 2XK9 | X-ray | 235 A | A | 210-531 | PDB |
| 2XM8 | X-ray | 340 A | A | 210-531 | PDB |
| 2XM9 | X-ray | 250 A | A | 210-531 | PDB |
| 2YCF | X-ray | 177 A | A | 210-530 | PDB |
| 2YCQ | X-ray | 205 A | A | 210-531 | PDB |
| 2YCR | X-ray | 220 A | A | 210-531 | PDB |
| 2YCS | X-ray | 235 A | A | 210-531 | PDB |
| 2YIQ | X-ray | 189 A | A | 210-531 | PDB |
| 2YIR | X-ray | 210 A | A | 210-531 | PDB |
| 2YIT | X-ray | 220 A | A | 210-531 | PDB |
| 3I6U | X-ray | 300 A | A/B | 84-502 | PDB |
| 3I6W | X-ray | 325 A | A/B/C/D/E/F/G/H | 70-512 | PDB |
| 3VA4 | X-ray | 154 A | C | 63-73 | PDB |
| 4A9R | X-ray | 285 A | A | 210-531 | PDB |
| 4A9S | X-ray | 266 A | A | 210-531 | PDB |
| 4A9T | X-ray | 270 A | A | 210-531 | PDB |
| 4A9U | X-ray | 248 A | A | 210-531 | PDB |
| 4BDA | X-ray | 260 A | A | 210-531 | PDB |
| 4BDB | X-ray | 250 A | A | 210-531 | PDB |
| 4BDC | X-ray | 300 A | A | 210-531 | PDB |
| 4BDD | X-ray | 267 A | A | 210-531 | PDB |
| 4BDE | X-ray | 255 A | A | 210-531 | PDB |
| 4BDF | X-ray | 270 A | A | 210-531 | PDB |
| 4BDG | X-ray | 284 A | A | 210-531 | PDB |
| 4BDH | X-ray | 270 A | A | 210-531 | PDB |
| 4BDI | X-ray | 232 A | A | 210-531 | PDB |
| 4BDJ | X-ray | 301 A | A | 210-531 | PDB |
| 4BDK | X-ray | 330 A | A | 210-531 | PDB |
| AF-O96017-F1 | Predicted | AlphaFoldDB |
1369 variants for O96017
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs786203977 RCV000487390 RCV000167514 |
1 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203977 RCV000540790 |
1 | M>I | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203977 RCV001179508 |
1 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570536 RCV000195519 rs863224748 |
1 | M>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411092158 rs1417811260 RCV001024783 |
2 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000581177 rs779607427 CA411092139 |
3 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs779607427 CA10168086 RCV000579685 RCV000483004 RCV000529273 |
3 | R>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA411092129 rs1555932959 RCV000566272 |
4 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001199925 RCV000220544 RCV001551330 rs757016287 RCV001854693 |
5 | S>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601854328 RCV001011376 CA411092109 |
5 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575010 CA411092100 rs201084748 |
5 | S>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA411092089 RCV000635765 rs1555932944 |
6 | D>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555932944 CA411092094 RCV001012797 |
6 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001014002 CA411092073 rs1601854266 |
7 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635939 rs780920036 RCV000213815 CA10168084 |
8 | E>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA411092022 RCV000530682 rs1456931393 |
9 | A>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs757530141 RCV000579464 RCV000229227 CA10583919 |
9 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001183604 rs1456931393 |
9 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555932913 RCV000456188 RCV000759773 |
11 | Q>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000821423 rs1349961118 CA411091990 |
11 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000635955 rs1349961118 CA411091993 |
11 | Q>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000558452 RCV000164888 rs369256181 CA192020 |
11 | Q>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs1064793324 RCV000480755 RCV000547774 CA16621085 |
13 | H>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001022038 CA411091928 rs1601854035 |
14 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1426424086 RCV001183420 |
16 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16616581 rs1060502705 RCV000470829 |
16 | S>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635624 rs1555932835 |
16 | S>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411091895 rs1426424086 RCV000575171 |
16 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000005943 CA117636 rs137853008 VAR_019101 |
17 | A>S | Bone osteosarcoma an osteogenic sarcoma sample; somatic mutation; might influence susceptibility to breast cancer; does not cause protein abrogation in familial colorectal cancer [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs876658857 RCV000222245 |
18 | C>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001187827 rs2054336674 |
18 | C>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411091856 rs151218932 RCV000582495 |
18 | C>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000562079 RCV001055511 CA411091826 rs1555932877 |
19 | S>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10168079 rs375507194 RCV000635741 |
20 | Q>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs753257724 RCV000218111 RCV000759044 CA10168080 RCV000476107 |
20 | Q>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000694803 CA411091770 rs1569171601 |
21 | P>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2054335480 RCV001227089 |
22 | H>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601853800 CA411091753 RCV001025440 |
22 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411091731 rs1601853772 RCV001862342 RCV001025783 |
23 | G>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569171589 RCV000777880 CA411091737 |
23 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000690552 rs142243299 RCV000129252 CA164058 |
25 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000233086 CA10583918 rs878854923 |
26 | T>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635876 CA411091646 rs376736188 |
27 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV000522986 CA322998866 RCV000509464 RCV001535787 rs376736188 |
27 | Q>E | CHEK2-Related Cancer Susceptibility Hereditary cancer [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV000470117 CA16616579 rs1060502697 RCV000584612 |
27 | Q>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555932735 RCV000582445 |
29 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA198320 RCV000167444 RCV000485654 RCV000228262 rs761494650 |
29 | Q>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs876660019 RCV001186375 CA411091598 |
29 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs876660019 RCV000218829 CA10581115 |
29 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA322998843 RCV001018620 rs112032663 |
30 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000563789 rs1555932749 CA411091584 RCV000709602 |
30 | G>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000568904 rs762863407 RCV001858289 |
31 | S>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658135 RCV000220600 |
31 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555932714 RCV000584483 CA411091561 |
31 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2054331180 RCV001236386 |
33 | S>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1231012263 CA411091502 RCV000584578 |
34 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001189255 rs1231012263 |
34 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000166389 rs786203185 CA195738 RCV000463155 |
35 | S>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1601853381 RCV001009772 CA411091469 |
35 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203185 RCV000773080 CA411091451 |
35 | S>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000563573 CA411091435 rs1555932650 |
36 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000527932 rs1555932583 |
37 | G>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000220647 rs764750609 CA10581113 |
37 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA322998834 rs764750609 RCV000635617 |
37 | G>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000707276 rs774192195 CA10168074 |
38 | I>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000470563 CA16616578 RCV000575592 rs1060502696 |
39 | S>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000703737 rs1569171106 |
40 | S>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000990398 CA411091348 rs1601853229 |
40 | S>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569171216 CA891844565 RCV000693526 |
40 | S>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502686 RCV000463217 CA16616355 |
40 | S>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121908694 RCV000471346 RCV000114752 RCV000131220 CA167796 |
41 | S>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411091307 rs1569171191 RCV000689101 |
42 | S>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs749158713 CA10168072 RCV000705971 |
43 | T>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000777470 RCV001856146 CA411091212 rs1569171123 |
44 | S>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555932518 RCV000572454 |
45 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000214565 rs558321010 CA10168070 RCV000230142 RCV000523789 |
45 | T>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001011025 CA322998799 rs558321010 |
45 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000536362 RCV000216282 rs876660873 CA10581111 |
46 | M>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411091135 RCV000572420 rs1555932504 |
46 | M>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570563 rs1555932507 CA658656853 |
46 | M>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000539309 rs730881694 CA299099 RCV000562294 RCV000160444 |
49 | S>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs730881694 CA349738 RCV000561755 RCV000205611 RCV000679675 |
49 | S>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000694276 rs1569171013 CA411091034 |
50 | S>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000129647 CA164865 RCV000195906 rs587781592 |
51 | Q>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587781592 RCV000462478 CA16616576 |
51 | Q>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2054325722 RCV001225853 |
51 | Q>P | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555932481 RCV000533140 |
53 | S>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753204096 CA10168065 RCV000585913 RCV000214765 RCV000696869 RCV001175354 |
53 | S>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000354036 CA158095 RCV000766741 RCV000120553 RCV000132037 RCV000231176 RCV000765627 rs371657037 |
53 | S>T | CHEK2-Related Cancer Susceptibility Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569170839 RCV000705355 |
54 | H>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601852698 RCV001012456 CA411090954 |
54 | H>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000541373 CA411090942 rs1555932427 |
55 | S>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574842 rs765799649 RCV000759772 RCV000466798 CA10168064 |
55 | S>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA411090937 rs1555932413 RCV000567445 |
56 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000160445 rs730881695 RCV000219585 RCV000197274 CA299101 RCV000515427 |
57 | S>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001179521 rs2054323662 |
57 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000691477 rs1569170717 CA411090903 |
58 | G>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574428 CA411090890 rs149991239 |
59 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000469959 RCV000130842 rs149991239 VAR_026630 RCV000622258 RCV000765626 RCV000589927 CA167221 |
59 | T>K | Hereditary cancer-predisposing syndrome Familial cancer of breast multiple cancers Inborn genetic diseases [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000570813 rs1555932393 CA411090877 |
60 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000699556 CA411090871 rs1569170658 |
61 | S>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001071257 rs2054322279 |
62 | S>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210302 rs2054322016 |
62 | S>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000213798 CA10581110 rs876659424 |
62 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583917 rs878854916 RCV000231926 |
63 | L>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001042204 rs2054321037 |
65 | T>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1308200351 RCV000692543 CA411090825 |
65 | T>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001184842 rs864622684 |
65 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411090821 rs864622684 RCV001013717 |
65 | T>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA348742 rs864622684 RCV000520409 RCV000204519 |
65 | T>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730881696 RCV000160446 CA299103 RCV000234730 |
66 | V>M | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2054320626 RCV001042949 |
67 | S>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685881 rs886041171 CA411090804 |
67 | S>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10603389 RCV000282416 rs886041171 RCV000475698 |
67 | S>Y | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000218911 CA10577648 RCV000222824 rs768384031 RCV000663138 |
69 | Q>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2054319272 RCV001245023 |
70 | E>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854917 CA10583916 RCV000228482 |
70 | E>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000129876 rs587781705 RCV000763478 CA165273 |
72 | Y>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs769819013 RCV000213236 RCV000475066 RCV000318548 CA10168058 |
72 | Y>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000777117 CA411090757 rs1569170484 |
72 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs769819013 RCV000700923 CA10168059 |
72 | Y>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555932352 CA411090674 RCV000566929 |
77 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555932344 RCV000572266 |
78 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042203 rs2054316045 |
78 | Q>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555932341 CA411090665 RCV000522849 RCV000576726 |
78 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000542182 CA10581108 rs876659006 RCV000213858 |
80 | P>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs745355600 RCV000222378 CA10168056 |
80 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555932335 CA411090623 RCV000572093 |
81 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000132293 RCV000204969 rs587782766 RCV000220709 |
83 | Q>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411090590 RCV000525290 rs1555932326 |
83 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000554787 CA411090550 rs17883862 |
85 | P>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA913189037 rs1569170273 RCV000772624 |
85 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10581107 RCV000481391 RCV000214627 rs17883862 RCV000226448 RCV000657033 |
85 | P>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001015877 rs1366081066 CA411090558 |
85 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000707035 CA411090547 rs551930027 |
86 | E>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
CA322998660 rs551930027 RCV001175831 |
86 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
rs2054315696 RCV001229416 |
90 | P>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758792132 CA10168053 RCV000562986 |
90 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000700391 rs777588170 CA10168054 |
90 | P>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000574542 RCV001858099 rs1555932231 |
91 | A>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs748559775 CA10168052 RCV000222404 |
91 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000580671 rs1555932194 CA658684265 |
91 | A>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411090426 rs779269031 RCV000573515 |
92 | P>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000473998 rs779269031 CA16616359 RCV000582868 |
92 | P>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA411090434 rs1555932172 RCV000581416 |
92 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203458 RCV000166773 RCV000197766 RCV000223102 |
93 | W>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065399 rs876661156 RCV000223018 RCV000574687 |
93 | W>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876661156 RCV000467195 |
93 | W>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000199638 rs587782070 RCV000130559 CA166650 RCV000377793 |
93 | W>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs786203889 CA198177 RCV000167390 RCV000635868 |
93 | W>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411090411 RCV000538696 rs730881697 |
93 | W>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs786203889 CA411090405 RCV000706680 |
93 | W>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753860983 CA411090393 RCV000583422 |
94 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10168050 rs753860983 RCV000568091 |
94 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000462270 rs753860983 RCV000562512 CA16616595 |
94 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1064795959 RCV000568231 RCV000486640 |
95 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696330 rs587781269 CA411090378 |
95 | R>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000635601 CA411090369 rs750596499 |
95 | R>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000506957 rs750596499 RCV000581294 CA10168048 |
95 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000216512 rs750596499 CA10168049 RCV000555568 |
95 | R>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001090274 rs2054312626 RCV001037472 |
97 | W>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2054312448 RCV001240920 |
97 | W>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000635948 rs1555932116 |
98 | A>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411090317 RCV000574737 rs1300016035 |
98 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1601851248 RCV001017671 |
99 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs537051622 CA10168047 RCV000575755 RCV000544062 RCV000523569 |
99 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA411090290 rs786201193 RCV000693230 |
99 | L>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786201193 RCV000163059 CA187346 |
99 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001183588 rs2054311767 |
100 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601851194 CA411090278 RCV001017874 |
100 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411090250 rs1569169871 RCV000775696 |
101 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000692811 rs1569169879 CA411090256 |
101 | D>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000457744 rs786203283 CA196080 RCV000166518 |
101 | D>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000576340 rs1555932071 |
102 | G>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000218820 CA10581105 RCV001212505 rs876659833 |
102 | G>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411090242 RCV000689346 rs876659833 |
102 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000580902 rs1555932082 CA411090235 |
102 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781669 RCV000562510 CA411090230 |
103 | F>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000468739 RCV000214724 CA10581104 rs876658140 |
103 | F>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566204 RCV000697949 rs1010061908 CA322998553 |
105 | N>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555932027 RCV000556591 RCV000572483 CA411090174 |
105 | N>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000459397 CA16616348 rs1060502691 |
106 | L>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2053967484 RCV001201720 |
107 | E>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694896 CA411108302 rs1569159156 |
107 | E>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000198019 RCV000212413 RCV000160423 rs730881681 CA299061 |
108 | C>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs730881681 CA194288 RCV000165829 |
108 | C>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000695165 rs1555927408 RCV000569424 CA411108293 |
108 | C>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555927398 RCV000538143 |
109 | V>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694566 rs1569159114 CA411108282 |
109 | V>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583914 rs878854919 RCV000229971 RCV000582604 |
110 | N>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000476300 CA16616574 rs1060502700 |
110 | N>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411108270 RCV000572742 rs1060502700 |
110 | N>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000692738 CA411108259 rs1569159072 |
111 | D>Y | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569159061 RCV000697432 |
112 | N>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000459664 CA16616592 rs1060502689 |
112 | N>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660788 RCV000222533 CA10581103 RCV000232766 RCV000399989 RCV000586880 RCV000301635 |
112 | N>S | Colorectal cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Breast neoplasm [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001240346 rs2053964098 |
113 | Y>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000771629 RCV000635735 rs905674348 CA323033395 |
113 | Y>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000580420 CA10168017 RCV000470930 rs770343235 |
113 | Y>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001020144 rs1601826109 CA411108238 |
113 | Y>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs770343235 CA411108233 RCV000565272 |
113 | Y>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001020145 rs1601826064 |
113 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411108225 RCV000677872 rs1555927374 |
114 | W>* | Sarcoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411108226 RCV000564693 rs1555927378 |
114 | W>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000564748 rs1060502706 CA411108209 |
115 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16616347 RCV000458096 rs1060502695 |
115 | F>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16616346 rs1060502706 RCV000584064 RCV000474804 |
115 | F>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10168016 RCV000561168 rs745943179 |
116 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000165141 CA192607 RCV000461749 rs745943179 |
116 | G>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs28909982 CA288301 VAR_022461 |
117 | R>G | BC [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs587781982 RCV000534347 RCV000130380 CA166294 |
117 | R>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000707491 CA411108194 rs587781982 |
117 | R>M | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000220471 RCV000220593 rs757340619 RCV000635813 CA10577647 |
118 | D>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10168014 rs373648967 RCV000215367 |
119 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs786202246 RCV000164963 RCV000485288 CA192180 |
120 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1601825829 RCV001020716 RCV001381969 |
121 | C>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555927312 RCV000576500 |
121 | C>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10168013 RCV000581670 rs777887044 RCV001860082 |
121 | C>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs777887044 RCV001020759 CA411108147 |
121 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555927302 RCV000550472 |
122 | E>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000166630 rs786203355 |
122 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000466283 CA10581102 rs876658557 RCV000217311 |
123 | Y>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555927291 RCV000573147 CA411108111 |
124 | C>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000701108 CA411108104 rs1064794677 |
125 | F>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs864622541 RCV000203958 CA348237 |
126 | D>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569158776 RCV000696835 |
128 | P>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000227657 CA165943 RCV000130206 rs587781879 |
128 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555927281 RCV000551518 CA411108074 |
128 | P>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555927266 RCV000561899 CA411108058 |
129 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000567234 rs150677496 CA411108047 |
130 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001228603 rs1275395933 |
131 | K>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000698440 CA411108042 rs1275395933 |
131 | K>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1569158689 RCV001182109 |
131 | K>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000709599 CA411108038 rs1569158689 |
131 | K>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411108029 rs750393263 RCV000528472 |
132 | R>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2053960596 RCV001070798 |
133 | T>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693565 rs1569158640 |
133 | T>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16616572 rs1060502703 RCV000463493 |
133 | T>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411108009 rs1404473412 RCV000568579 |
134 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000473822 CA288303 RCV000116013 RCV000765625 rs372874441 RCV000212415 |
134 | D>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA411108008 RCV000698965 rs1404473412 |
134 | D>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000567447 rs730881699 RCV000206058 RCV000160449 |
135 | K>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA323033338 RCV000823637 rs911826883 |
136 | Y>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001856053 RCV000773515 CA411107987 rs1569158606 |
136 | Y>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635935 rs1555927222 CA411107993 |
136 | Y>D | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411107990 rs1555927222 RCV000553424 |
136 | Y>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA299110 RCV000763477 RCV000254656 RCV000229303 RCV000160452 rs730881701 |
137 | R>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10581099 RCV000218554 rs876658143 |
137 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203325 RCV000199899 RCV000166588 |
137 | R>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574297 rs730881701 CA411107979 |
137 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000524740 CA411107970 rs1555927202 |
138 | T>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411107966 rs1555927196 RCV000576067 RCV001859987 |
138 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200917541 RCV000763476 CA411107953 RCV000541871 RCV000572280 RCV000507030 |
139 | Y>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000563962 RCV000116015 rs587780182 CA288307 RCV000693527 |
139 | Y>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411107956 rs730881703 RCV000568786 |
139 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA195763 RCV001004840 rs786203192 RCV000166397 RCV000554183 RCV000283398 |
141 | K>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555927151 CA411107912 RCV000566903 |
143 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA294315 RCV000233502 rs587782300 RCV000212416 RCV000131183 |
143 | H>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16616343 RCV000590326 RCV000461191 rs1060502688 |
143 | H>Y | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000698264 CA411107908 rs1569158415 |
144 | F>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000215720 CA10581096 rs876658374 |
144 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000690907 rs1555927148 |
145 | R>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555927137 RCV000530353 |
145 | R>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137853007 CA411107896 RCV001022317 |
145 | R>G | Li-fraumeni syndrome 2 (lfs2) Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_019108 CA501029 rs587781667 RCV000708697 |
145 | R>P | Hereditary cancer-predisposing syndrome prostate cancer; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA294124 RCV000206197 rs587781667 RCV000129822 RCV000235158 |
145 | R>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA117632 VAR_008554 rs137853007 |
145 | R>W | Li-fraumeni syndrome 2 (lfs2) colon cancer and LFS2; does not cause protein abrogation in familial colorectal cancer; loss of the ability to interact with and phosphorylate CDC25A and to promote CDC25A degradation in response to ionizing radiation [Ensembl, UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs781678896 RCV001875783 RCV001175728 |
146 | I>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000765624 rs781678896 CA10168005 RCV000635731 RCV000570860 |
146 | I>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000214290 RCV000555257 rs876660482 CA10581095 |
148 | R>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000564133 rs142966756 CA411107845 RCV001858098 |
148 | R>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
CA197860 RCV000700163 RCV000167254 rs786203794 |
149 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782560 RCV000131781 CA168749 |
149 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001179706 rs587782560 |
149 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000635943 rs1555927038 |
150 | V>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782385 CA168077 RCV000131390 |
150 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2053949167 RCV001041222 |
151 | G>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555926975 RCV000584472 |
151 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA294005 rs587781377 RCV000129197 RCV000536468 RCV000212420 |
151 | G>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000635861 CA411107741 RCV000567773 rs1413319082 |
151 | G>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555927017 RCV000561717 CA411107724 |
153 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1175278074 RCV000773789 CA411107687 |
155 | S>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001022847 rs1601824130 |
156 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555926996 RCV000635733 CA411107669 |
156 | Y>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000583776 rs1555927004 CA411107673 |
156 | Y>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10167989 rs748262921 RCV000544695 |
157 | I>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA198413 RCV000167476 rs755934632 |
158 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs864622351 RCV000203746 CA348040 |
158 | A>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1225437533 RCV000700987 RCV000561136 |
159 | Y>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580089 CA16616350 rs1060502718 RCV000460064 |
159 | Y>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA193390 RCV000206006 RCV000165429 rs781254437 RCV000658932 |
159 | Y>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA411107611 rs876659950 RCV000562747 |
160 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs575910805 CA288312 RCV000586231 RCV000116020 |
160 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000766748 RCV000464571 RCV000212421 CA288310 RCV000116019 rs72552323 |
160 | I>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA196184 rs72552323 RCV000480734 RCV000166559 RCV000206788 |
160 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000459190 rs876659950 RCV000221570 CA10581094 RCV000589153 |
160 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555926951 CA411107591 RCV000556804 |
161 | E>Q | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000416789 RCV000198423 RCV000130429 RCV000210175 rs587782008 RCV000212423 |
161 | E>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer, susceptibility to Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000160425 RCV000467058 CA299065 RCV000571351 rs730881683 |
161 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000206009 rs864622453 |
162 | D>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569157761 CA411107563 RCV000687279 |
162 | D>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000480654 rs587781652 CA165091 RCV000129786 RCV000461401 |
162 | D>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555926943 RCV000635643 CA411107575 |
162 | D>Y | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001189608 rs2053945090 |
164 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001023283 rs1601823792 RCV001862258 CA411107513 |
164 | S>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555926921 RCV000635612 CA411107518 |
164 | S>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000709717 rs1569157733 |
165 | G>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000221086 rs876660846 CA10581093 RCV000485481 RCV000465836 |
165 | G>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000537393 RCV000479865 RCV000220903 rs876659089 CA10581092 |
166 | N>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA168184 RCV000131455 rs587782413 RCV000197451 |
166 | N>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000565735 CA288314 rs144850845 RCV000116021 RCV000474336 |
167 | G>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000200030 RCV000210071 CA294427 RCV000212424 VAR_019109 rs72552322 RCV000131700 |
167 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer, susceptibility to prostate cancer; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC dbSNP gnomAD |
|
RCV000213298 RCV000475670 CA299067 rs730881684 RCV000160426 |
168 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000254658 rs587780183 RCV000116022 RCV000550157 |
169 | F>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411107434 rs1555926890 RCV000699653 |
169 | F>C | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000213598 rs876659653 CA10581091 |
169 | F>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000220664 rs876660363 |
169 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000213517 CA10581090 rs876659233 |
169 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000564763 rs1555926890 CA16622099 |
169 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411107441 RCV000772466 rs876659653 |
169 | F>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2053942986 RCV001253118 |
171 | N>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001023616 rs1601823546 |
172 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA197998 RCV000167316 rs786203836 RCV000586115 |
172 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1601823504 CA411107350 RCV001023686 |
173 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10581088 rs876659804 RCV000223336 |
173 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000223554 rs876659400 RCV000221904 RCV000469289 CA10577638 |
174 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000216235 CA10581087 rs876659400 |
174 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs876659400 CA10581086 RCV000220253 RCV001853562 |
174 | L>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000563108 CA411107320 rs1555926862 |
175 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000497285 RCV000116023 rs587780184 |
176 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000573749 rs1555926854 RCV000526154 CA411107310 |
176 | G>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000561314 RCV000687272 rs876661085 CA411107312 |
176 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577642 RCV000221826 rs876661085 RCV001854736 |
176 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001023831 CA411107314 rs876661085 |
176 | G>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000700074 RCV000565297 CA323033023 rs796389290 |
177 | K>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000635684 CA411107296 rs796389290 |
177 | K>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001023896 rs1601823389 CA411107290 |
177 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2053940893 RCV001036373 |
179 | K>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000579658 CA411107218 rs137853009 |
180 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA117640 VAR_019104 RCV000216866 rs137853010 RCV000196466 RCV000164479 RCV000005945 |
181 | R>C | Hereditary cancer-predisposing syndrome Familial cancer of breast prostate cancer; somatic mutation Prostate cancer, somatic [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs2053939874 RCV001214520 |
182 | P>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000635752 CA323032982 rs372168051 |
182 | P>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs372168051 CA411107200 RCV001030687 |
182 | P>R | Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000215383 RCV000635898 rs786203973 CA10581085 |
182 | P>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000759774 RCV000167508 CA198477 rs786203973 RCV000207334 |
182 | P>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2053939966 RCV001192013 |
183 | L>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1444410452 RCV001024212 CA411107175 |
184 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA411107148 RCV000563647 rs780782542 RCV000635625 |
185 | N>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000566863 rs780782542 CA10167983 RCV001865715 |
185 | N>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA411107142 RCV000533757 rs146198085 |
186 | N>D | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000198345 RCV000589669 rs146198085 RCV000130733 CA294225 RCV000515236 |
186 | N>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000165583 rs369223840 CA193758 |
186 | N>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA411107139 RCV000688890 rs146198085 |
186 | N>Y | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555926784 RCV000550776 CA411107122 |
187 | S>Y | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10167982 RCV000562997 RCV000527060 rs757812205 |
188 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1456708574 RCV000539499 RCV000569616 CA411107081 |
189 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA288319 rs587780185 RCV000230801 RCV000116026 RCV000212429 |
189 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001024405 CA915952735 rs1601823036 |
190 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1601823008 RCV001024404 CA915952734 |
190 | A>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10167981 rs764852525 RCV000698265 |
190 | A>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA196768 RCV000688703 rs786203483 RCV000166803 |
190 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411107056 RCV000574623 rs1555926762 |
191 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000556192 rs775167943 |
193 | L>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA338758 RCV000567149 RCV000199633 rs766599514 |
193 | L>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000116027 rs587780186 |
194 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA195180 RCV000166176 rs786203042 RCV000461326 |
194 | S>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA411107005 RCV000582815 rs786203042 RCV000635852 |
194 | S>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000570017 rs1555926729 CA411106985 |
195 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000470668 CA16616338 rs1060502693 |
196 | N>D | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000196744 rs863224751 CA336673 |
196 | N>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001175791 rs2053936071 RCV001875787 |
197 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563898 CA411106913 rs1555926718 |
197 | K>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555926708 RCV000576138 CA411106892 RCV000686285 |
198 | V>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000565709 rs1250779080 RCV000635856 |
199 | F>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250441 rs2053696720 |
200 | V>A | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730881704 RCV000570974 RCV000458835 CA299118 RCV000160456 |
200 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555924525 RCV000696718 RCV000568371 CA411105140 |
201 | F>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202416 RCV001185857 |
201 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411105138 RCV000571711 rs1555924522 |
201 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411105142 rs1555924525 RCV000569750 |
201 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202416 RCV000165218 CA192800 RCV001526935 |
201 | F>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555924538 RCV000527688 |
202 | F>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758529351 RCV000457117 CA10167933 RCV000572134 |
202 | F>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs886039609 RCV000703607 RCV000581639 |
203 | D>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411105127 rs587782813 RCV000635850 |
203 | D>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA164717 RCV000781296 RCV000129584 rs587781563 |
203 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000132380 RCV000203988 rs587782813 RCV000212431 CA294523 |
203 | D>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000698041 rs1569150113 CA411105121 |
204 | L>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635894 CA10167932 rs759734429 |
205 | T>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA411105106 RCV001024973 rs1601805939 |
206 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10581084 RCV000221751 RCV000635649 rs876659871 |
206 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1569150017 RCV000705252 |
207 | D>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411105092 RCV000561547 rs1555924486 |
207 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000568969 RCV001858287 rs773955899 |
208 | D>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000552930 CA411105076 rs1555924474 |
208 | D>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1385692387 RCV000776216 |
208 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569149953 RCV001855914 CA411105070 RCV000759045 |
209 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858193 RCV000570312 rs767253467 CA411105055 |
210 | S>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs767253467 CA10167929 RCV000232004 RCV000573953 |
210 | S>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16616570 rs1060502692 RCV000461608 |
211 | V>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001233646 rs2053693149 |
212 | Y>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000692345 rs1569149890 CA411105015 |
213 | P>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000475949 CA16616569 rs1060502708 |
215 | A>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000533182 CA411104970 rs1486909310 |
217 | R>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2053691493 RCV001175711 |
219 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165339 rs786202497 RCV000657336 RCV000545663 |
219 | E>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000815160 CA411104942 rs1601805632 |
219 | E>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574277 rs1222043566 CA411104932 |
219 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001042829 rs2053691104 |
220 | Y>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502690 CA16616590 RCV000476422 |
220 | Y>C | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555924429 RCV000563992 CA411104928 |
220 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411104915 RCV000553824 rs199749372 |
221 | I>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200451612 RCV000588152 RCV000131415 CA294367 RCV000204676 |
221 | I>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000129028 CA163697 RCV000481035 rs199749372 RCV000206722 |
221 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569149693 RCV000696657 |
221 | I>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201228 RCV001215060 rs750616657 RCV000164995 |
222 | M>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570800 CA348780 RCV000204561 rs775134484 |
222 | M>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA196742 RCV000166790 RCV000204804 rs786203472 |
222 | M>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1342011335 RCV000476282 |
225 | T>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1342011335 RCV001862334 RCV001025596 |
225 | T>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411104870 RCV000582401 rs1555924390 |
225 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411104868 RCV000635636 rs1555924390 RCV000569539 |
225 | T>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1296957097 CA411104853 RCV000694957 |
226 | L>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs878854920 CA10583912 RCV000225976 |
227 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001873395 CA411104851 RCV001759713 rs878854920 RCV001025663 |
227 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001025699 CA10167924 RCV001873397 rs745475247 RCV001567001 |
228 | S>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001759918 CA411104827 RCV001030686 RCV001873398 rs1601805361 RCV001025715 |
228 | S>N | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs778212685 CA338057 RCV000198627 |
229 | G>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000564322 CA10167901 RCV000474125 rs778212685 |
229 | G>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000568979 rs1555921367 CA658656815 |
229 | G>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000696390 CA411103517 rs1064794948 |
229 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000479721 RCV000562708 CA16621072 rs1064794948 |
229 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000215617 RCV000231597 CA10167902 rs778212685 |
229 | G>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748636216 RCV000568008 RCV000465132 CA10167900 |
230 | A>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs730881685 CA299069 RCV001025772 RCV001850265 RCV000160427 |
230 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555921335 CA411103495 RCV000535275 |
231 | C>Y | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000576069 rs1555921327 |
232 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685658 RCV000219327 rs779322187 CA10581082 |
232 | G>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000635858 rs1555921319 CA411103486 |
232 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575304 RCV000543198 CA10167899 rs779322187 |
232 | G>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1601784008 RCV001042297 RCV001025853 |
233 | E>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001025875 rs753972711 CA411103471 |
233 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA411103463 RCV000571514 rs1555921308 |
233 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001025883 rs1601783933 CA411103468 RCV001759714 |
233 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001239033 rs1601783879 RCV001025922 |
234 | V>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000221976 rs587782419 RCV000131466 RCV000692534 CA168200 |
235 | K>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000635732 rs1555921290 |
236 | L>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000131577 RCV000586622 CA294400 rs587782471 RCV000212433 RCV000199653 |
236 | L>P | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587782471 CA10581081 RCV000222985 |
236 | L>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000458482 rs1060502694 CA16616589 |
236 | L>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878854921 CA411103414 RCV000582359 |
237 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411103418 RCV000563447 rs1179425981 |
237 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000572015 rs1179425981 CA411103422 |
237 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000229558 rs878854921 CA10583910 |
237 | A>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121908702 RCV000166320 RCV000005947 RCV000635628 RCV000657605 CA117642 |
239 | E>* | Hereditary cancer-predisposing syndrome Familial cancer of breast Prostate cancer, somatic [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000114762 CA117644 RCV000131201 rs121908702 RCV000765622 VAR_019106 RCV000005948 RCV000205850 |
239 | E>K | prostate cancer; germline mutation Hereditary cancer-predisposing syndrome Familial cancer of breast Prostate cancer, somatic [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000573178 rs121908702 CA411103385 |
239 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA411103369 RCV001026142 rs1323633806 |
240 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001188620 rs1323633806 |
240 | R>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411103350 RCV000635707 rs1555921240 |
241 | K>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000590667 RCV000205087 RCV000129205 CA294007 rs141776984 |
243 | C>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555921203 RCV000559854 CA411103315 |
243 | C>Y | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2053412352 RCV001233283 |
244 | K>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA158097 RCV000129367 rs587778193 RCV000120556 RCV000472251 |
244 | K>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA336226 RCV000196195 rs587778193 |
244 | K>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA411103291 RCV001055878 rs1601783375 RCV001026288 |
245 | K>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10167886 rs748504161 RCV000471471 |
246 | V>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1064795978 CA16621071 RCV000478513 RCV000535903 |
247 | A>D | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635922 rs1064795978 CA411103262 |
247 | A>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492498 RCV000765621 RCV000198756 RCV000484098 rs779457035 CA338168 |
248 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001873410 CA10167883 RCV001026484 rs749366698 |
249 | K>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA411103247 rs1555921132 RCV000635654 |
249 | K>Q | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000563163 RCV000474200 CA16616587 rs1060502719 |
250 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000206871 VAR_019111 rs587780189 RCV000116030 RCV000587105 RCV000212436 CA288326 |
251 | I>F | Hereditary cancer-predisposing syndrome Familial cancer of breast prostate cancer; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs587781379 RCV000227256 RCV000214585 RCV000765620 CA163957 RCV000129204 |
252 | S>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000584130 rs786201896 CA411103191 |
253 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs786201896 RCV000635790 CA190895 RCV000164415 |
253 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000573507 rs878854922 CA10583909 RCV000230229 |
254 | R>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000548678 rs1131691044 |
255 | K>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131691044 RCV000492222 |
255 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2053408810 RCV001056400 |
255 | K>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570646 RCV001354759 rs750596640 CA411103140 |
255 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060502717 CA16616562 RCV000474645 |
257 | A>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16616336 RCV000466753 rs876658690 |
258 | I>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000217090 rs876658690 CA10581079 |
258 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001202837 rs2053407842 |
259 | G>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411103091 RCV000699174 rs1569140096 |
259 | G>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001188754 rs786201923 |
259 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA190999 rs786201923 RCV000164454 |
259 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502710 RCV000460369 CA16616334 |
260 | S>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001862386 CA411103057 RCV001026884 rs1601782873 |
262 | R>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000457707 rs1060502687 |
263 | E>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555921029 RCV000564368 CA411103039 |
263 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575022 CA299071 rs730881686 RCV000160428 |
263 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000216414 rs876660660 |
263 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000478285 RCV000572689 rs1064793689 CA16621070 |
265 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000167229 CA197787 RCV000704137 rs786203778 |
266 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000572948 rs1555920244 CA411102497 |
267 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2053336861 RCV001090208 |
267 | A>V | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001213522 rs2053336290 |
268 | L>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001181231 rs766462610 |
268 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411102489 rs766462610 RCV000635906 |
268 | L>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001224551 rs2053335818 |
269 | N>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2053336086 RCV001184367 |
269 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570328 CA411102476 rs1555920228 |
269 | N>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660258 RCV000221821 CA10581075 |
270 | V>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411102449 rs1555920220 RCV000574515 |
271 | E>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411102432 RCV001858166 rs1426981647 RCV000569153 |
272 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs755666375 RCV000573029 CA10167855 |
273 | E>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000130723 CA166984 rs587782152 |
273 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA411102424 RCV000525631 rs587782152 |
273 | E>Q | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA411102416 rs755666375 RCV000688529 |
273 | E>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000474863 RCV001027311 rs769430546 |
275 | E>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749963436 CA10167853 RCV000567765 RCV000635826 |
275 | E>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000687235 rs1569137812 |
276 | I>M | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000230738 CA10583907 rs878854925 |
276 | I>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1601777507 CA411102368 RCV001027343 |
276 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001853586 CA10581074 RCV000217761 rs876659698 |
277 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411102350 RCV000575262 rs1555920150 |
277 | L>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001017534 rs1555920150 CA411102347 RCV001766840 |
277 | L>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555920142 RCV000657290 RCV001861676 |
279 | K>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1490781911 CA411102296 RCV000562844 |
280 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000130856 rs587782196 CA167244 RCV000222277 RCV000206362 |
281 | N>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10581073 RCV000686614 rs587782196 RCV000216434 |
281 | N>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA411102265 rs1555920110 RCV001017835 |
282 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411101383 RCV000561226 rs1555917036 |
283 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000217734 rs781222802 RCV000692317 CA10167796 |
283 | P>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA411101381 rs1555917036 RCV000562345 |
283 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001851498 RCV000518920 rs1555917031 CA411101344 RCV000571653 |
284 | C>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10581072 rs876658150 RCV000234274 RCV000218814 |
284 | C>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000635696 CA411101334 rs1555917027 |
285 | I>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000220847 RCV000526256 rs756692505 CA10167795 RCV000215612 |
285 | I>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000700813 CA411101338 rs1555917027 |
285 | I>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000555653 rs1555917015 |
286 | I>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000520533 rs986132746 RCV000695143 CA411101307 |
286 | I>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA411101312 rs986132746 RCV000538972 |
286 | I>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA411101289 rs1555917019 RCV000579601 |
286 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs986132746 CA16621067 RCV000480115 RCV000563586 RCV000635648 |
286 | I>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000255418 rs886039731 RCV000409327 RCV001260330 |
287 | K>missing | Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000213799 RCV000539843 rs876659184 CA10581071 |
287 | K>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA411101250 rs1341939689 RCV000552330 |
288 | I>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA411101219 rs1555916997 RCV000565052 |
289 | K>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1422634212 RCV000689709 |
290 | N>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233575 rs2052980434 |
291 | F>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000635697 rs772683219 RCV000219196 RCV000255563 |
291 | F>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001182382 rs2052980010 |
291 | F>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000532620 rs1555916987 |
292 | F>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000568161 RCV000215774 rs772683219 RCV000462314 |
292 | F>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018275 rs1601752721 CA411101175 |
292 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000565506 rs1555916968 |
293 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001854719 rs772683219 RCV000213838 RCV000657826 |
293 | D>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs932236548 RCV001867889 RCV000570308 CA411101141 RCV001284623 |
293 | D>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10581068 RCV000213727 rs876658152 |
293 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs932236548 RCV000574029 CA411101138 |
293 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000569720 rs1555916963 CA411101110 |
294 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411101093 RCV000570976 rs751136808 |
295 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000217906 CA10167790 rs876660742 RCV000635769 RCV000222098 |
296 | D>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000705764 CA10167792 rs777397542 |
296 | D>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000481807 CA16621066 RCV001851253 rs876659553 |
296 | D>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000581313 CA411101053 rs777397542 |
296 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001030684 RCV000696110 RCV000480778 RCV000218902 CA10581067 rs876659553 |
296 | D>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs786203554 RCV000166914 CA197018 |
297 | Y>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1390889028 RCV000582748 |
298 | Y>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10581066 rs876659519 RCV000215015 RCV000576520 |
298 | Y>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000689412 CA411101009 rs1569128113 |
298 | Y>C | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878854927 RCV000233810 RCV000569745 CA10583905 |
298 | Y>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659870 CA10581065 RCV001284624 RCV000218081 RCV001853597 |
299 | I>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA411100986 RCV000584218 rs876659870 |
299 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA411100992 rs1555916906 RCV000557788 |
299 | I>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1171168822 CA411100983 RCV000635793 |
300 | V>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000164458 RCV000479231 rs748005072 RCV000576741 |
301 | L>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886039739 RCV000545100 RCV000255142 CA10588720 RCV000573767 |
301 | L>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs886039739 RCV000582644 CA411100938 RCV001853918 |
301 | L>W | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2052974883 RCV001224570 |
302 | E>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000464095 rs587780190 RCV000116031 CA288327 RCV000212438 |
302 | E>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA411100900 RCV001018730 rs1480964932 |
302 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA411100924 rs587782460 RCV000571936 |
302 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001284625 CA411100884 rs1233699096 RCV000563054 |
303 | L>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000164976 rs786202256 CA192208 RCV000483894 |
303 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001018847 CA411100219 rs786202256 |
303 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000635892 rs1156943614 CA411100198 |
304 | M>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000708698 rs587782033 CA411100203 |
304 | M>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000219675 RCV000458120 CA10581064 rs769436449 |
304 | M>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000590254 RCV000130483 CA294200 RCV000534707 rs587782033 |
304 | M>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000116032 rs587780191 CA288329 RCV000213975 RCV000473787 |
305 | E>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587783052 RCV000144595 CA270854 |
305 | E>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000221992 CA10581063 rs587780192 RCV000255080 RCV000464724 |
306 | G>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000144594 CA270852 rs587783051 |
306 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA411100152 RCV001018963 rs587780192 RCV001873314 |
306 | G>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000218256 RCV000767121 rs587783051 CA10577636 RCV000565220 RCV000458988 |
306 | G>W | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000219380 rs786203053 RCV000635873 |
307 | G>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10577635 RCV000476255 RCV000215327 rs876661053 |
307 | G>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411100147 rs1555915533 RCV000635700 |
307 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635824 RCV000483271 rs786203053 RCV000166190 |
308 | E>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601739303 RCV001019056 CA411100103 |
308 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001019092 rs786202521 CA411100085 |
309 | L>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000704813 rs1569121657 CA891844294 |
309 | L>M | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000567110 rs786201734 CA411100082 |
309 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000164175 CA190236 rs786201734 |
309 | L>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000165368 rs786202521 CA193198 |
309 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569121571 CA411100048 RCV000705247 |
311 | D>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782347 CA411100053 RCV000571472 |
311 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000231753 RCV000131287 rs587782347 CA294339 RCV000212441 |
311 | D>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000559307 RCV000479455 RCV000574009 rs1064795532 CA16621064 |
312 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2052766776 RCV001239350 |
313 | V>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA323009538 RCV001179048 rs1039682955 RCV001875921 |
313 | V>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000765619 RCV000466569 CA10167775 rs752302543 RCV000582321 |
313 | V>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1601738999 RCV000990388 |
314 | V>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs778573074 CA16616586 RCV000476147 |
314 | V>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555915471 CA411099949 RCV000548105 |
315 | G>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411099975 rs1569121455 RCV000693431 |
315 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2052765649 RCV001234930 |
316 | N>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2052765649 RCV001181895 |
316 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2052765413 RCV001051734 |
316 | N>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782416 RCV000131462 RCV000226721 CA168192 RCV000486217 |
317 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000706341 rs749153163 |
318 | R>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000212442 rs148053495 RCV000116034 RCV000205025 CA288333 |
318 | R>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000656832 VAR_019112 CA158099 rs143611747 RCV000460267 RCV000131968 RCV000120557 |
318 | R>H | Hereditary cancer-predisposing syndrome Familial cancer of breast prostate cancer; unknown pathological significance; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD |
|
CA339414 RCV000200593 rs143611747 |
318 | R>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000635808 CA411099862 rs143611747 |
318 | R>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000131595 rs587782480 CA168423 RCV000460242 |
320 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA411099816 rs1237880782 RCV000562481 |
320 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA411099812 rs1555915433 RCV000568296 |
321 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000228310 rs374395284 CA10167771 RCV000217252 RCV000522320 |
321 | E>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000215454 rs876659458 CA10581059 |
321 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2052762437 RCV001233990 |
322 | A>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000765618 RCV000485499 VAR_019113 RCV000569568 RCV000663289 CA16621062 rs750984976 |
323 | T>P | Hereditary cancer-predisposing syndrome Familial cancer of breast prostate cancer; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000709716 rs1569121172 |
324 | C>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000463864 rs1060502712 CA16616325 |
324 | C>W | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569121161 CA411099708 RCV000688816 |
324 | C>Y | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001019612 rs1601738571 |
325 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563323 rs1555915409 |
325 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16621061 RCV000528645 RCV000512871 RCV000574986 rs587780193 |
325 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10167769 rs767656411 RCV000540877 RCV000218357 |
325 | K>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000635634 rs1555915392 |
327 | Y>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_019114 RCV000515334 RCV000116036 CA288337 RCV000410273 rs587780194 RCV000212443 |
327 | Y>C | Hereditary cancer-predisposing syndrome Familial cancer of breast prostate cancer; unknown pathological significance; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA411099544 rs1555915377 RCV000561309 |
328 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569121048 RCV000692012 |
329 | Y>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000548810 CA10167768 rs774685647 |
329 | Y>C | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA411099529 RCV000772456 rs866542645 |
329 | Y>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16616332 RCV000473849 rs774685647 |
329 | Y>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2052759328 RCV001058838 |
330 | Q>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411099480 RCV000709598 rs768973809 |
330 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs9625537 CA411099469 RCV000573188 |
330 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555915352 CA411099448 RCV000582202 |
331 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411099453 RCV000568243 rs1555915357 |
331 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001051229 rs2052758032 |
332 | L>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555915337 CA411099418 RCV000568415 |
332 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555915348 RCV000635828 CA411099437 |
332 | L>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000521186 RCV001857966 CA411099351 rs1555915316 RCV001009631 |
334 | A>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000777176 rs864622371 RCV000521044 CA411099366 |
334 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA349881 RCV000205766 RCV000234858 rs864622371 |
334 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs563752762 RCV000469070 RCV000131459 CA168188 |
335 | V>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1569120831 RCV000694776 |
336 | Q>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000568852 RCV000689455 CA411099293 rs1300388084 |
336 | Q>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000164779 RCV000532130 RCV000424411 rs760502479 CA191748 |
337 | Y>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA411097856 RCV000635638 rs1555914376 |
337 | Y>C | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000131506 rs587782441 RCV000199485 CA168254 RCV000487089 |
338 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs374660293 CA197259 RCV000167008 |
338 | L>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs374660293 RCV000131787 CA168755 RCV000287814 |
338 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000635717 CA411097823 rs1555914365 |
339 | H>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001865716 rs1555914365 CA411097827 RCV000562095 |
339 | H>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000569800 rs371207635 RCV000478108 CA10167744 RCV000225929 |
339 | H>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000457476 CA10167743 rs747655283 |
340 | E>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA411097818 RCV001009687 rs1601727470 |
340 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569116316 RCV000706598 |
341 | N>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000480457 CA10167742 RCV000467334 RCV000575429 rs773846607 |
341 | N>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA299120 RCV000765617 RCV000230102 rs730881705 RCV000160457 RCV000212444 |
342 | G>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000579659 CA411097780 rs1555914358 |
342 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000562192 RCV000195910 rs863224746 CA336032 |
343 | I>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs141502354 CA323006866 RCV000635653 |
343 | I>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV000485769 CA10167741 rs202051128 RCV000214665 RCV000759771 |
344 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1569116223 RCV000696437 CA411097764 |
344 | I>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635957 rs1555914342 CA411097749 |
345 | H>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs756520206 RCV000556996 CA411097744 |
345 | H>Q | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000565935 RCV000205862 rs864622537 CA349964 |
345 | H>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs201206424 RCV000568147 CA411097739 RCV000685523 |
346 | R>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000203780 rs730881688 CA299074 RCV000656833 RCV000160430 |
346 | R>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs730881688 CA10581058 RCV000221244 |
346 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000533037 CA411097736 rs730881688 |
346 | R>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16603153 rs786202676 RCV000429856 |
347 | D>A | Breast neoplasm [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs28909980 RCV000160431 VAR_029154 RCV000221549 CA299076 RCV000205583 |
347 | D>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs786202676 CA193800 RCV000165604 |
347 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878854908 RCV000571718 RCV000226665 CA10583904 |
348 | L>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA299078 RCV000160432 RCV000574744 RCV000557927 rs730881689 |
349 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000533975 rs1235802399 CA411097695 |
349 | K>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000214725 CA10581057 RCV001284136 rs876659406 |
350 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001017075 CA411097686 rs876659406 |
350 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2052610542 RCV001235204 |
351 | E>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA194626 rs786202893 RCV000474853 RCV000165950 |
351 | E>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001850361 rs786202893 RCV000167117 CA197540 |
351 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA411097664 RCV000687260 rs1555914308 |
351 | E>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000579924 CA411097661 rs1555914308 |
351 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575358 CA411097649 rs1361935182 |
352 | N>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060502709 RCV000458569 CA16616557 |
352 | N>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10167739 rs764181318 RCV000581142 |
352 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA411097652 rs1361935182 RCV001017150 RCV001860855 |
352 | N>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10167738 RCV000558843 rs758434121 |
353 | V>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000573115 rs1555914264 |
354 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411097608 RCV000583443 rs1555914287 |
354 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635875 rs1555914279 |
355 | L>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001186517 rs2052608641 |
355 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786201130 CA16616583 RCV000476333 |
355 | L>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000255543 RCV000221104 rs765425451 RCV000205218 CA349406 |
357 | S>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000229454 CA10583903 rs878854909 RCV000568332 |
358 | Q>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10167737 rs760449049 RCV000635710 RCV000482650 RCV000222729 |
359 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000220180 rs876658337 RCV000233648 RCV000764378 CA10581056 |
360 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs572668197 CA411097497 RCV001017229 |
361 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
CA16616323 rs199859140 RCV000481362 RCV000469327 RCV000579404 |
361 | D>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA194800 rs199859140 RCV000166026 |
361 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000635618 RCV000479824 RCV000561532 rs1064793339 CA16621059 |
362 | C>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555914244 CA411097487 RCV000571096 |
362 | C>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000202371 RCV001853256 CA210466 rs767306337 RCV000574562 |
362 | C>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1569115748 CA411097483 RCV000686687 |
363 | L>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000218891 CA10581055 rs876659921 |
365 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555914237 RCV000548312 CA411097423 |
365 | K>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555913941 RCV000706768 RCV000657278 |
366 | I>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659635 CA411097218 RCV000569158 |
366 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA411097233 RCV000580618 RCV001853875 rs786202147 RCV001561372 |
366 | I>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA191836 RCV000164815 rs786202147 |
366 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000505568 rs1555913934 |
367 | T>missing | Nephroblastoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854910 RCV000227403 CA10583902 |
367 | T>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000568476 CA411097174 rs1555913929 |
368 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555913927 RCV000553644 CA411097152 |
369 | F>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA288252 rs587780166 RCV000115981 RCV000212448 |
370 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411097149 RCV000529789 rs1555913924 |
370 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555913924 RCV000700322 CA411097146 |
370 | G>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411097117 RCV001017360 RCV001860862 rs1601723545 |
371 | H>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000561007 RCV001858097 rs1555913901 CA411097102 |
372 | S>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16621057 RCV000484546 rs147877722 RCV001856811 |
372 | S>C | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
rs147877722 RCV000705064 RCV000160458 CA299122 |
372 | S>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
rs1555913901 RCV000635738 CA411097105 |
372 | S>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000565389 RCV001851132 rs1555913894 RCV000478022 |
373 | K>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10167720 rs74751600 RCV000709596 RCV000568436 |
373 | K>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000165259 CA192894 RCV000204014 rs786202446 |
373 | K>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001187757 rs786202446 |
373 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057755 rs2052564279 |
374 | I>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000677874 rs1555913881 |
377 | E>missing | Breast neoplasm [ClinVar] | Yes |
ClinVar dbSNP |
|
CA288256 RCV000115983 rs560973106 RCV000412249 RCV000212450 |
377 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA288258 rs587780167 RCV000764376 RCV000115984 RCV000231285 RCV000656835 |
378 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001836932 RCV001860620 rs1601723329 RCV001009953 CA411097001 |
378 | T>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569114113 RCV000709718 |
379 | S>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000160433 CA299080 RCV000461871 rs267606211 |
379 | S>C | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232957 CA10575611 rs267606211 |
379 | S>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566120 rs1060502684 RCV000469025 RCV000507955 |
380 | L>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1601723143 CA411096940 RCV001017429 |
381 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000214614 RCV000554690 rs375130261 CA10167719 |
381 | M>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569114039 RCV001180416 |
381 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000688848 CA10581050 RCV000214852 rs202089930 |
383 | T>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502715 CA16616556 RCV000474755 |
384 | L>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577637 RCV000220093 rs145324174 RCV000772048 |
385 | C>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
rs587782817 RCV000635844 CA411096887 |
385 | C>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000132390 rs587782817 RCV000216008 CA169759 RCV000205294 |
385 | C>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs145324174 RCV000204142 RCV000481497 CA348388 RCV000574409 |
385 | C>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
RCV000564558 rs1555913820 RCV000543181 CA411096869 |
386 | G>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs771387164 RCV000565631 RCV000555442 CA10167717 |
387 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000531635 RCV000571263 CA288260 RCV000115985 rs587780168 |
387 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587780168 RCV000230901 RCV000219618 CA10167716 |
387 | T>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs771387164 RCV001010043 CA411096863 |
387 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10581049 RCV000222039 rs587780168 RCV000635953 |
387 | T>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000562664 CA411096855 rs1555913811 RCV001858288 |
388 | P>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411096848 rs1601722891 RCV001010063 |
388 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411096853 rs1555913811 RCV001010058 |
388 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs758677815 RCV000464286 |
389 | T>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758677815 RCV000708608 |
389 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000543962 rs758677815 RCV000583942 |
389 | T>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000475251 rs200928781 RCV000566309 CA16616553 VAR_073020 |
390 | Y>C | BC; does not phosphorylate p53/TP53 Hereditary cancer-predisposing syndrome Familial cancer of breast [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs373073383 RCV001010136 CA411096818 |
392 | A>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000130811 CA167159 rs587782184 |
392 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs730881690 RCV000764374 RCV000160434 CA299082 RCV000576132 RCV000704401 |
393 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs730881690 RCV000580063 CA411096812 |
393 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411096811 rs587780169 RCV001010166 |
394 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000164852 rs786202164 CA191924 RCV000556493 |
394 | E>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000635959 CA411096804 rs1555913769 |
395 | V>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000422650 RCV000990387 CA16603152 rs587780170 |
395 | V>F | Familial cancer of breast Breast neoplasm [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587780170 RCV000467802 CA10167714 |
395 | V>I | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587780170 CA288264 RCV000230538 RCV000212454 RCV000115987 |
395 | V>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753159426 RCV000492286 RCV000234460 |
397 | V>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001010243 rs1601722588 CA411096793 |
397 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001228230 rs2052556835 |
398 | S>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411096787 rs1555913751 RCV000565624 |
398 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569113653 RCV000699597 |
399 | V>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10167712 rs527878975 RCV000573606 RCV000462827 |
399 | V>D | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000568640 CA411096785 rs876658682 |
399 | V>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000545025 CA10581048 rs876658682 RCV000221402 |
399 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000569863 rs876658302 |
400 | G>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1476312560 CA411096778 RCV001862763 RCV001010254 |
400 | G>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA411096774 RCV000773546 rs1476312560 |
400 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000223384 rs876658302 |
401 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121908704 RCV000232135 RCV000114764 RCV000115988 CA230680 |
401 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10167710 RCV000226188 RCV000571196 rs758206293 |
402 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA411096741 rs1435731482 RCV000704505 |
403 | G>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001228231 rs2052553224 |
404 | Y>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2052554226 RCV001035444 |
404 | Y>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217823 RCV000581889 rs1555913672 |
404 | Y>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781836 RCV000130129 CA165763 |
404 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000460515 CA16616317 rs1060502707 |
404 | Y>C | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411096738 RCV000579833 rs1555913715 |
404 | Y>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA288266 rs587780171 RCV000764373 RCV000199599 RCV000219945 RCV000115989 |
405 | N>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000550320 rs369070738 CA193808 RCV000585949 RCV000165608 |
405 | N>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA323005769 rs587782527 RCV000564639 |
406 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs786203031 RCV000166159 |
407 | A>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001854700 RCV000214948 rs876660527 CA10581045 |
407 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000571704 CA411096695 rs1555913700 |
408 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001010427 rs761095543 CA411096668 |
409 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10167709 RCV000635860 rs766191039 |
409 | D>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000213717 RCV000526458 rs766191039 CA10577633 RCV000220442 |
409 | D>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA411096658 rs1555913689 RCV000534212 RCV000567460 |
410 | C>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2052551741 RCV001257501 |
410 | C>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10167706 RCV000465371 RCV000220219 RCV000448496 rs371418985 |
411 | W>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001862769 RCV001010468 rs1064796572 CA411096641 |
411 | W>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000562833 rs1064796572 CA411096638 |
411 | W>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000231745 CA10583900 RCV000580448 rs587780172 |
411 | W>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635812 rs587780172 RCV000115990 RCV000579835 CA288268 |
411 | W>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs765664259 RCV001788289 RCV000575173 |
412 | S>* | Li-Fraumeni syndrome 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000581053 CA411096624 rs1555913662 |
412 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001180965 rs1601722002 |
412 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001865736 rs1248967885 RCV000657757 CA411096601 RCV000562978 |
413 | L>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555913645 CA658656826 RCV000635724 RCV000561232 |
413 | L>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411096604 RCV000692596 rs1248967885 |
413 | L>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000536951 CA411096597 rs878854913 |
414 | G>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583899 rs878854913 RCV000565206 RCV000226640 |
414 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000486281 rs748555394 CA10167704 RCV000690699 |
415 | V>D | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs760118917 RCV000566049 RCV001858095 |
416 | I>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555913642 RCV001189357 |
416 | I>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411096536 rs1569113171 RCV000777537 |
417 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569113171 RCV001010543 CA411096533 |
417 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635839 rs587780173 RCV000115991 |
418 | F>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064793737 CA411096530 RCV000579902 |
418 | F>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16621052 rs1064793737 RCV000564409 RCV000480218 |
418 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569113123 RCV000777536 CA411096510 |
419 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000773571 CA411096483 rs578218280 |
420 | C>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
CA16616314 RCV000465698 rs762205611 |
420 | C>W | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000766899 CA10581044 RCV000217861 RCV000485639 rs578218280 RCV000539842 |
420 | C>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
rs1060502699 RCV000468070 CA16616577 RCV000575686 |
421 | L>F | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16616330 RCV000575067 rs1060502714 RCV000456925 |
421 | L>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000115992 RCV000212457 RCV000198820 rs587780174 RCV000585980 |
422 | S>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000465621 CA299084 RCV000588012 RCV000567169 rs549755590 |
422 | S>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs549755590 RCV000132369 CA169718 |
422 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000479779 CA16621050 RCV001856822 rs1064793300 RCV000574107 |
423 | G>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411096332 rs730881691 RCV001010661 RCV001860646 |
423 | G>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001192022 rs1423670346 |
425 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555913537 RCV000571377 CA411096292 RCV000703439 |
425 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555913523 CA411096280 RCV000552175 RCV000570156 |
426 | P>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000699081 rs769933461 RCV000218265 RCV000220383 CA10167683 |
426 | P>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000563770 CA411096269 rs769933461 RCV000635663 |
426 | P>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555913523 CA411096273 RCV000662711 |
426 | P>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569112324 RCV000781304 |
427 | F>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA167729 RCV000131182 rs587782299 |
429 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16621049 RCV000484630 rs1064795041 RCV000564784 |
429 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs771772104 RCV001205283 |
431 | R>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064793470 RCV000528303 CA16621048 RCV000486280 |
431 | R>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555913504 RCV000687836 RCV000564147 CA411096163 |
431 | R>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000553258 rs1555913493 |
433 | Q>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411096112 RCV000540634 rs1555913494 |
433 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660323 RCV000635886 CA10581043 RCV000221032 |
434 | V>M | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000560984 rs1555913484 CA411096053 |
435 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583897 rs878854914 RCV000233610 |
436 | L>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411096007 rs1569112074 RCV000696560 |
438 | D>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200050883 RCV000580180 CA411096015 |
438 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA411096013 RCV000574814 rs200050883 |
438 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1569112074 RCV000708694 CA411096006 |
438 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000217777 RCV000255686 rs778989252 RCV000576345 CA10581042 |
439 | Q>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10167680 rs778989252 RCV000554013 |
439 | Q>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs878854915 RCV000226245 RCV000561448 CA10583896 |
439 | Q>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs878854915 RCV000570489 CA16616551 RCV000457423 |
439 | Q>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000234920 CA288276 RCV000115997 rs587780176 |
440 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000218319 RCV000530173 CA10581041 rs876660046 |
441 | T>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000571640 rs1555913464 |
442 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411095806 rs1555913454 RCV000635940 |
444 | K>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011109 CA638797901 RCV001860659 rs1214213337 |
445 | Y>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000457804 rs587778194 RCV000120558 CA158100 |
445 | Y>H | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659639 RCV000219411 RCV000254757 RCV000547049 |
446 | N>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660373 RCV001354931 CA10581039 RCV001854691 RCV000223071 |
447 | F>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660373 RCV000562327 CA411095691 |
447 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000132487 RCV000120559 CA158102 rs17886163 RCV000759042 RCV000203747 VAR_021120 |
448 | I>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555913437 RCV000579443 CA411095645 |
449 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1601719250 RCV001010999 RCV001008394 |
450 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411095601 RCV000664265 rs1555913429 |
450 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139088611 RCV000223114 CA10581038 RCV000481522 |
451 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs139088611 CA10167676 RCV000635671 |
451 | V>D | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000215715 RCV000698359 rs548796284 CA10167677 |
451 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs730881702 RCV000160453 CA299112 RCV000559596 |
452 | W>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10167675 RCV001011146 rs764449869 RCV000781299 RCV001856194 |
452 | W>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000709595 rs1569111699 |
454 | E>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210845 rs2052514918 |
454 | E>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001853592 RCV000220025 rs876659827 CA10581037 |
456 | S>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000160450 RCV000212460 rs730881700 RCV000473927 RCV000722050 |
457 | E>missing | CHEK2-Related Cancer Susceptibility Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555913410 RCV000567283 |
457 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001219588 rs2052513579 |
458 | K>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000565418 CA411095336 rs776093527 |
458 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000691821 RCV000216045 CA10167672 rs769729382 |
459 | A>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000691003 CA411095332 rs769729382 |
459 | A>T | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA411094544 rs1569110510 RCV000702639 |
460 | L>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000213274 CA10581033 rs876659512 |
460 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000569874 RCV000635657 rs1555913188 CA411094527 |
461 | D>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411094510 RCV000560471 rs1555913172 |
463 | V>F | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs764396738 CA10167658 RCV000635766 |
464 | K>N | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10581031 RCV000222336 rs529571124 |
464 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
rs1601716482 CA411094423 RCV001011358 |
466 | L>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569110400 RCV000698276 CA411094429 |
466 | L>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000214589 rs876658908 CA10581029 |
467 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000213705 RCV000214084 rs876658456 |
467 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000580033 rs1555913161 CA411094402 |
467 | L>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10581030 RCV000222069 rs876658293 |
467 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411094400 rs1555913161 RCV000549012 |
467 | L>W | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10581028 rs876660084 RCV000471573 RCV000223247 |
468 | V>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000523765 CA10167657 rs763344790 RCV000580881 RCV000524869 |
469 | V>A | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000160438 CA299088 rs730881692 RCV001850266 |
469 | V>M | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000686401 rs1569110334 |
469 | V>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411094351 rs1483112470 RCV000635775 |
470 | D>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs876658449 CA10581027 RCV000222979 RCV000463739 |
470 | D>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060502713 RCV000471619 CA16616329 |
471 | P>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001189330 rs2052470634 |
471 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000478318 RCV000708695 RCV000537431 CA16621046 rs1064793511 |
472 | K>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000220927 RCV000223426 rs876659422 RCV000635814 |
473 | A>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000475471 rs1060502685 CA16616573 |
473 | A>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000588723 RCV000234795 RCV000206044 CA288280 RCV000115999 rs540635787 RCV000764370 |
474 | R>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs540635787 RCV000476206 CA16616546 |
474 | R>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000206096 RCV000116000 rs121908706 RCV000114766 CA230684 |
474 | R>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA411094282 rs121908706 RCV000791309 |
474 | R>L | NK-cell enteropathy [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10577632 RCV000470899 rs540635787 RCV000219946 RCV000213121 |
474 | R>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA411094243 RCV000698621 RCV000570223 rs142763740 |
476 | T>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA411094244 RCV000569480 rs142763740 |
476 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001223646 rs2052468526 |
477 | T>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000588604 RCV000458226 RCV000165489 RCV000222773 rs786202601 |
479 | E>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555913104 RCV000563991 |
479 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411094167 RCV000569419 RCV000635927 rs1555913106 |
479 | E>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203303 RCV000701346 CA411094103 |
480 | A>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs773600515 CA10167655 RCV000222675 RCV000476078 |
480 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000166550 CA196161 rs786203303 RCV001785484 RCV001850345 |
480 | A>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555913094 RCV000635662 |
482 | R>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011614 CA411094047 rs1601715996 |
482 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555913090 RCV000549784 CA411094030 |
482 | R>K | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555913081 RCV001853957 RCV000585610 CA411093997 |
483 | H>Q | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000679674 rs587780177 CA288284 RCV000116002 RCV000199678 |
483 | H>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA196787 RCV000481159 rs786203490 RCV000525941 RCV000166812 |
483 | H>Y | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000572548 rs1555913078 |
484 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000206213 RCV000515218 RCV000129213 RCV000212468 RCV000590757 CA294010 rs564605612 |
484 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs548850521 CA411093974 RCV000772840 |
484 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000212467 RCV000160439 RCV000538234 rs548850521 CA299090 |
484 | P>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000686426 rs1199577809 CA411093942 |
485 | W>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1601715852 CA411093933 RCV001011668 |
485 | W>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202244 RCV001850308 CA192176 RCV000164961 |
485 | W>R | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011667 rs1601715865 RCV001030620 |
486 | L>missing | Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411093912 RCV000690865 rs1569109928 |
486 | L>P | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10581026 RCV000657722 rs876659250 RCV000214536 RCV000699485 |
487 | Q>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000473696 CA10603693 RCV000573852 RCV000367328 rs886041173 |
488 | D>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1420382294 CA411092740 RCV000707182 |
489 | E>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587780178 RCV000116003 RCV000212469 RCV000462156 CA288286 |
490 | D>E | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA411092683 rs1555912088 RCV000635827 |
491 | M>L | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635890 CA411092685 rs1555912088 |
491 | M>V | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555912075 RCV000575472 |
492 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000583970 rs1555912060 |
494 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754339938 CA10167627 RCV001011802 |
494 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000485124 RCV000556152 CA16621043 RCV000562793 rs767043399 |
494 | K>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000469433 RCV000219822 rs756250205 RCV000483345 CA10167625 |
496 | Q>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs756250205 CA411092538 RCV001011821 |
496 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs756250205 RCV000565554 CA411092542 RCV001858164 |
496 | Q>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000164545 RCV000482135 rs774175654 RCV000226984 |
497 | D>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000131571 rs143965148 CA168377 RCV000586318 RCV000203702 |
497 | D>N | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000662880 rs1555912044 RCV000657319 |
498 | L>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2052245881 RCV001179691 RCV001875946 |
498 | L>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000162769 rs28909981 CA186920 |
500 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000492481 rs1131691045 RCV000635920 |
501 | E>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411092417 RCV001011932 rs1060502721 |
501 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1601702134 RCV001011922 CA411092422 |
501 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1601702086 RCV000850310 |
502 | E>missing | Breast neoplasm [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782707 RCV000132173 RCV001064635 |
502 | E>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000568899 CA16616327 rs1060502682 RCV000473992 |
502 | E>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411092413 rs1601702068 RCV001011937 |
502 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411092397 RCV000540027 rs1555912017 |
503 | N>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000764369 CA168459 RCV000198676 rs587782489 RCV000131614 RCV000214263 |
504 | E>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000692232 rs587781960 CA411092374 |
505 | S>A | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000475981 RCV000130339 CA166219 rs587781960 RCV000393706 |
505 | S>P | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000212471 RCV000160441 CA299094 RCV000476991 rs587781960 |
505 | S>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555912010 CA411092366 RCV000562187 |
506 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000552731 rs1398732281 RCV000566493 CA411092357 |
506 | T>I | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs876660087 RCV000218115 CA10581024 |
507 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555912001 RCV000576866 |
508 | L>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411092345 rs1338238773 RCV001775993 RCV000774502 |
508 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000545753 CA10577623 RCV000219795 rs876660898 RCV000223593 |
508 | L>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA294442 rs587782541 RCV000131748 RCV000469852 RCV000212473 |
509 | P>L | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000116004 RCV000212472 rs587780179 CA288288 RCV000764368 RCV000200569 |
509 | P>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000197078 VAR_021122 rs17882942 RCV000764367 RCV000130543 CA166627 RCV000587712 |
512 | L>V | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000467127 rs747797219 CA10167622 RCV000563610 |
514 | Q>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs747797219 CA16616326 RCV000569146 RCV000467998 |
514 | Q>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555911640 RCV000635711 |
515 | P>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001856133 CA411091529 RCV000776765 rs1399879170 |
515 | P>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555911635 RCV000529636 |
516 | S>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555911636 RCV000635853 |
516 | S>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001860691 CA411091477 rs1601698243 RCV001012053 |
516 | S>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702939 rs1555911626 RCV000565801 |
517 | T>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555911631 RCV000565900 RCV000635936 CA411091471 |
517 | T>S | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555911629 CA411091465 RCV000568694 |
517 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411091452 RCV000583678 rs753560465 |
518 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA411091460 RCV000704950 rs753560465 |
518 | S>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000471222 RCV000589100 RCV000116005 RCV000212474 CA288290 RCV000210124 rs200432447 |
519 | R>* | Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer, susceptibility to Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587780180 RCV000227687 RCV000212475 CA288292 RCV000116006 |
519 | R>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000217042 rs876658646 |
520 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411091417 rs1555911613 RCV000569191 |
520 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2052187374 RCV001060037 |
521 | R>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs533475838 RCV000706358 CA411091384 |
521 | R>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000164598 rs373959274 RCV000456536 CA191363 |
521 | R>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000234361 rs786202339 RCV000215708 RCV000165099 |
523 | R>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000205272 rs587782684 RCV000212478 RCV000132111 |
523 | R>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA294024 RCV000129321 RCV000212479 rs149501505 RCV000228412 |
523 | R>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000131451 rs149501505 CA168177 RCV000466042 |
523 | R>G | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs948928965 RCV000572698 RCV000546521 CA411091342 |
523 | R>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs948928965 CA322999593 RCV001012175 |
523 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs149501505 RCV000709594 CA411091353 |
523 | R>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10581022 RCV000222661 RCV000534980 rs876658872 |
524 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1212728170 CA411091291 RCV000569238 |
525 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000571024 rs780512032 CA10167608 |
525 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs746341976 CA10167606 RCV001178561 |
526 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555911587 RCV000572342 CA411091281 |
526 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555911583 RCV000635725 CA411091254 |
527 | A>S | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs138040612 RCV000590066 RCV001860143 CA411091234 |
528 | E>* | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA411091230 rs1601697687 RCV001012265 |
528 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000233973 CA294377 RCV000131443 RCV000588204 rs138040612 |
528 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000547565 CA411091237 rs138040612 |
528 | E>Q | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000200863 rs751653049 CA339590 |
529 | G>D | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA411091194 RCV000563374 RCV000692487 rs1444665408 |
530 | A>T | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000219710 rs587781710 RCV000635744 RCV000521105 CA10581021 |
531 | E>* | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000694661 rs1569102183 CA411091150 |
531 | E>G | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10167605 rs587781710 RCV000470987 RCV000214317 |
531 | E>K | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA294132 RCV000129884 rs587781710 RCV000462062 RCV000212481 |
531 | E>Q | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587781519 RCV000129505 RCV000205993 RCV000235161 |
533 | T>missing | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA167185 rs562517792 RCV000130825 RCV000415925 |
533 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
CA411091092 rs1569102119 RCV000699293 |
533 | T>R | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA411091095 rs562517792 RCV000773418 |
533 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
RCV000559830 rs1555911558 CA411091086 |
534 | K>E | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000536005 rs576248104 CA299096 RCV000160442 RCV000218861 |
535 | R>C | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000116008 RCV000412260 CA288296 RCV000212482 rs544216926 |
535 | R>H | Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555911551 RCV000548349 |
536 | P>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA411091032 RCV001012354 rs1601697447 |
536 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012412 rs1064795821 RCV000478951 CA16621042 |
537 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001851201 rs1064794950 CA16621041 RCV000485826 |
538 | V>M | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569101939 RCV000686693 |
539 | C>missing | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569101993 RCV000686038 CA411090998 |
539 | C>Y | Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000222912 CA10581020 rs767414081 |
540 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1569101970 RCV000708696 CA411090983 |
540 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001238903 rs2052179845 |
544 | L>G | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16616601 rs779607427 |
3 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA294322 rs199708878 |
3 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1213043094 CA411092114 |
4 | E>D | No |
ClinGen gnomAD |
|
|
CA158091 rs201084748 |
5 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10168083 rs757530141 |
9 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA16621086 RCV000480175 rs1064793817 |
10 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1349961118 CA411091995 |
11 | Q>K | No |
ClinGen gnomAD |
|
|
CA10168082 rs369256181 |
11 | Q>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1166395498 CA411091964 |
12 | S>C | No |
ClinGen gnomAD |
|
|
CA10577649 rs876661027 |
12 | S>T | No |
ClinGen TOPMed |
|
|
CA411091958 rs1601854066 |
13 | H>N | No |
ClinGen Ensembl |
|
|
rs1601854043 CA411091932 |
14 | G>S | No |
ClinGen Ensembl |
|
|
CA10168081 rs151218932 |
18 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA158093 rs536907995 |
20 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs587782323 CA167812 |
21 | P>T | No |
ClinGen Ensembl |
|
|
CA411091760 rs1601853823 |
22 | H>Y | No |
ClinGen Ensembl |
|
|
rs587780188 CA288324 |
25 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411091636 rs1060502697 |
27 | Q>R | No |
ClinGen Ensembl |
|
|
rs786203185 CA411091444 |
35 | S>F | No |
ClinGen Ensembl |
|
|
rs876661249 RCV000222888 CA10577652 |
38 | I>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA411091279 rs1483975421 |
42 | S>C | No |
ClinGen TOPMed |
|
|
rs1601852941 CA411091161 |
46 | M>L | No |
ClinGen Ensembl |
|
|
CA10168069 rs780686266 |
48 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA10168068 rs756991701 |
49 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs778214603 CA10168066 |
52 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs778214603 CA411090986 |
52 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA411090980 rs371657037 |
53 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1255827598 CA411090932 |
56 | S>T | No |
ClinGen gnomAD |
|
|
CA322998750 rs730881695 |
57 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10168063 rs766499735 |
61 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1569170658 CA411090869 |
61 | S>I | No |
ClinGen Ensembl |
|
|
CA411090828 rs1601852317 |
64 | E>D | No |
ClinGen Ensembl |
|
|
CA411090833 rs1601852334 |
64 | E>G | No |
ClinGen Ensembl |
|
|
CA288298 rs141568342 VAR_019107 |
64 | E>K | prostate cancer; somatic mutation [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1601852238 CA411090807 |
67 | S>A | No |
ClinGen Ensembl |
|
|
rs762760523 CA10168060 |
69 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10168061 rs768384031 |
69 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000215591 rs876661109 CA10577640 |
69 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA411090787 rs878854917 |
70 | E>K | No |
ClinGen gnomAD |
|
|
rs1601852018 CA411090699 |
76 | E>K | No |
ClinGen Ensembl |
|
|
rs17883862 CA117633 VAR_019102 |
85 | P>L | an osteogenic sarcoma sample; neutral allele among Ashkenazi Jewish women [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA411090539 rs1201436179 |
86 | E>D | No |
ClinGen gnomAD |
|
|
rs1601851716 CA411090474 |
89 | T>I | No |
ClinGen Ensembl |
|
|
RCV000480094 rs1064793085 |
89 | T>missing | No |
ClinVar dbSNP |
|
|
CA411090436 rs748559775 |
91 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs779269031 CA10168051 |
92 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA299105 rs730881697 |
93 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs587781269 CA163528 |
95 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569169965 CA411090348 |
96 | L>* | No |
ClinGen Ensembl |
|
|
rs1601851270 CA411090305 |
98 | A>V | No |
ClinGen Ensembl |
|
|
CA411090267 rs1456691189 |
100 | Q>H | No |
ClinGen gnomAD |
|
|
CA411090264 rs786203283 |
101 | D>N | No |
ClinGen Ensembl |
|
|
CA411090237 rs1555932082 |
102 | G>A | No |
ClinGen Ensembl |
|
|
rs587781669 CA165150 |
103 | F>L | No |
ClinGen TOPMed |
|
|
CA411090204 rs1601851066 |
104 | A>P | No |
ClinGen Ensembl |
|
|
rs1601850987 CA411090161 |
106 | L>P | No |
ClinGen Ensembl |
|
|
rs775320614 CA10168046 |
107 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA411108219 rs756949505 |
114 | W>* | No |
ClinGen gnomAD |
|
|
rs756949505 CA323033389 |
114 | W>C | No |
ClinGen gnomAD |
|
|
rs757340619 CA10168015 |
118 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA411108182 RCV000586905 rs1555927328 |
118 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1601825853 CA411108165 |
120 | S>R | No |
ClinGen Ensembl |
|
|
rs1555927312 CA658656838 |
121 | C>* | No |
ClinGen Ensembl |
|
|
rs1356801901 CA411108150 |
121 | C>S | No |
ClinGen TOPMed |
|
|
rs1331351515 CA411108132 |
122 | E>D | No |
ClinGen gnomAD |
|
|
rs754768271 RCV000215985 CA10577645 |
124 | C>F | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs754768271 CA10168012 |
124 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs876661050 RCV000221519 |
125 | F>missing | No |
ClinVar dbSNP |
|
|
RCV000484314 CA16621082 rs1064794677 |
125 | F>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1192210146 CA411108099 |
126 | D>N | No |
ClinGen gnomAD |
|
|
CA411108096 rs1192210146 |
126 | D>Y | No |
ClinGen gnomAD |
|
|
rs150677496 CA10168009 |
130 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750393263 CA10168008 |
132 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA411108018 rs1346472987 |
133 | T>K | No |
ClinGen gnomAD |
|
|
CA411108003 rs1601825425 |
135 | K>E | No |
ClinGen Ensembl |
|
|
rs368570187 CA288305 VAR_022462 |
137 | R>Q | might influence susceptibility to breast cancer; does not cause protein abrogation in familial colorectal cancer [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA299114 rs730881703 RCV000160454 |
139 | Y>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1601825241 CA411107949 |
140 | S>G | No |
ClinGen Ensembl |
|
|
CA10168007 rs768234137 |
140 | S>N | No |
ClinGen ExAC |
|
|
RCV000657401 rs1555927165 |
141 | K>missing | No |
ClinVar dbSNP |
|
|
rs2053957486 RCV001284619 |
142 | K>missing | No |
ClinVar dbSNP |
|
|
CA411107915 rs587782300 |
143 | H>L | No |
ClinGen TOPMed |
|
|
CA411107900 rs876658374 |
144 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1555927148 RCV000657379 |
145 | R>missing | No |
ClinVar dbSNP |
|
|
rs142966756 CA323033280 |
148 | R>M | No |
ClinGen ESP |
|
|
CA411107842 rs142966756 |
148 | R>T | No |
ClinGen ESP |
|
|
rs587782385 CA411107755 |
150 | V>A | No |
ClinGen Ensembl |
|
|
rs1359910629 CA411107730 |
152 | P>H | No |
ClinGen Ensembl |
|
|
rs1359910629 CA411107726 RCV000519335 |
152 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA299063 RCV000160424 rs730881682 |
153 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA411107704 rs1320819223 |
154 | N>D | No |
ClinGen TOPMed |
|
|
CA10167990 rs564924749 |
154 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1320819223 CA411107701 |
154 | N>Y | No |
ClinGen TOPMed |
|
|
CA411107688 rs1175278074 |
155 | S>P | No |
ClinGen gnomAD |
|
|
rs17879961 CA10588724 |
157 | I>S | Li-fraumeni syndrome 2 (lfs2) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs17879961 CA117630 VAR_008555 |
157 | I>T | Li-fraumeni syndrome 2 (lfs2) might influence susceptibility to different types of cancer; does not cause protein abrogation in familial colorectal cancer; loss of the ability to interact with and phosphorylate CDC25A and to promote CDC25A degradation in response to ionizing radiation [Ensembl, UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA411107584 rs1601823895 |
161 | E>D | No |
ClinGen Ensembl |
|
|
CA411107577 rs1555926943 |
162 | D>N | No |
ClinGen Ensembl |
|
|
rs587781652 CA411107566 |
162 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10167988 rs752304641 |
163 | H>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000479812 rs1064794964 |
163 | H>missing | No |
ClinVar dbSNP |
|
|
CA411107452 rs1601823689 |
168 | T>A | No |
ClinGen Ensembl |
|
|
CA411107446 rs730881684 |
168 | T>N | No |
ClinGen Ensembl |
|
|
CA16621075 rs876659653 RCV000487064 |
169 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA411107367 rs1601823529 |
172 | T>I | No |
ClinGen Ensembl |
|
|
CA348835 rs864622691 |
178 | G>E | No |
ClinGen Ensembl |
|
|
rs1457055483 CA411107259 |
178 | G>R | No |
ClinGen TOPMed |
|
|
rs1457055483 CA411107262 |
178 | G>R | No |
ClinGen TOPMed |
|
|
rs864622691 CA411107251 |
178 | G>V | No |
ClinGen Ensembl |
|
|
rs77130927 CA288318 VAR_019103 |
180 | R>C | prostate cancer; somatic mutation [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs137853009 CA117639 VAR_019110 |
180 | R>H | prostate cancer; somatic mutation [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA411107219 rs137853009 |
180 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs137853010 RCV000160455 CA299116 |
181 | R>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA117641 VAR_019105 rs121908701 |
181 | R>H | prostate cancer; somatic mutation [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs745646057 CA190500 |
183 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA350486 rs369223840 |
186 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369223840 CA411107138 |
186 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411107040 rs1601822957 |
191 | L>P | No |
ClinGen Ensembl |
|
|
rs899211928 CA323032935 |
192 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs899211928 CA411107030 |
192 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1601822839 CA411107000 |
194 | S>N | No |
ClinGen Ensembl |
|
|
CA411105159 rs1601806153 |
198 | V>A | No |
ClinGen Ensembl |
|
|
rs1555926708 CA411106894 |
198 | V>I | No |
ClinGen Ensembl |
|
|
rs886039609 RCV000254973 |
202 | F>missing | No |
ClinVar dbSNP |
|
|
rs1601806038 CA411105128 |
203 | D>N | No |
ClinGen Ensembl |
|
|
CA288322 rs587780187 |
205 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs776728729 CA10167931 |
207 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA411105081 rs1601805877 |
208 | D>V | No |
ClinGen Ensembl |
|
|
RCV000255001 rs756131136 |
210 | S>missing | No |
ClinVar dbSNP |
|
|
CA411105017 rs1569149890 |
213 | P>H | No |
ClinGen Ensembl |
|
|
rs1569149890 CA411105013 |
213 | P>L | No |
ClinGen Ensembl |
|
|
rs907621837 CA323028444 |
218 | D>E | No |
ClinGen TOPMed |
|
|
rs961959952 CA323028449 |
218 | D>G | No |
ClinGen Ensembl |
|
|
CA411104957 rs1601805677 |
218 | D>Y | No |
ClinGen Ensembl |
|
|
rs1601805632 RCV001284620 |
219 | E>Q | No |
ClinVar dbSNP |
|
|
rs1555924429 CA411104929 |
220 | Y>N | No |
ClinGen Ensembl |
|
|
CA323028397 rs113947614 |
221 | I>T | No |
ClinGen Ensembl |
|
|
CA411104898 rs775134484 |
222 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769193111 CA10167925 |
223 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs745475247 CA411104838 |
228 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA411103515 rs1064794948 |
229 | G>C | No |
ClinGen Ensembl |
|
|
rs748636216 CA196715 |
230 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555921335 CA411103492 |
231 | C>F | No |
ClinGen Ensembl |
|
|
rs753972711 CA10167897 |
233 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs780245843 CA10167896 |
235 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs763892124 CA10167894 |
239 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs763892124 CA411103379 |
239 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1323633806 CA411103361 |
240 | R>M | No |
ClinGen gnomAD |
|
|
rs1023861689 CA323022298 |
241 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10167892 rs752647314 |
242 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA10167891 rs765136136 |
242 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10167889 rs770565516 |
243 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA411103319 rs141776984 |
243 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10167887 rs773017534 |
245 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs748504161 CA323022193 |
246 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748504161 CA10167885 |
246 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA658824800 rs1555921143 |
248 | I>K | No |
ClinGen Ensembl |
|
|
rs1555921143 RCV000657340 |
248 | I>K* | No |
ClinVar dbSNP |
|
|
rs1601783227 CA411103237 |
249 | K>M | No |
ClinGen Ensembl |
|
|
CA10167884 rs749366698 |
249 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10167882 rs780042868 |
252 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA411103171 rs1395878179 |
254 | R>G | No |
ClinGen TOPMed |
|
|
CA411103048 rs730881686 |
263 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752493299 CA411103037 |
264 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10167879 rs752493299 |
264 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10167878 rs765216307 |
264 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA411102505 rs1601777776 |
266 | P>T | No |
ClinGen Ensembl |
|
|
RCV000519815 rs766462610 CA10167856 |
268 | L>F | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA411102421 rs587782152 |
273 | E>* | No |
ClinGen gnomAD |
|
|
rs749963436 CA16608149 RCV000432752 |
275 | E>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA411102363 rs878854925 |
276 | I>T | No |
ClinGen Ensembl |
|
|
rs1490781911 CA411102289 |
280 | L>P | No |
ClinGen gnomAD |
|
|
rs1490781911 CA411102290 |
280 | L>Q | No |
ClinGen gnomAD |
|
|
rs774068238 CA10167849 |
282 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1394069156 CA411101274 |
287 | K>Q | No |
ClinGen TOPMed |
|
|
CA411101252 rs1341939689 |
288 | I>V | No |
ClinGen gnomAD |
|
|
CA323012722 rs932236548 |
293 | D>G | No |
ClinGen TOPMed |
|
|
rs751136808 CA10167793 |
295 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA411101072 rs1555916935 |
295 | E>D | No |
ClinGen Ensembl |
|
|
rs1345979642 CA411101096 |
295 | E>Q | No |
ClinGen gnomAD |
|
|
CA411100968 rs1467276809 |
300 | V>G | No |
ClinGen gnomAD |
|
|
CA168331 rs587782460 |
302 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1233699096 CA411100879 |
303 | L>S | No |
ClinGen TOPMed |
|
|
CA194052 rs769436449 |
304 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587780192 CA288331 |
306 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587783051 CA10167778 |
306 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411100012 rs1157311218 |
312 | K>T | No |
ClinGen TOPMed |
|
|
rs1555915491 RCV000478216 |
313 | V>missing | No |
ClinVar dbSNP |
|
|
rs778573074 CA10167774 |
314 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1569121419 CA411099910 |
316 | N>K | No |
ClinGen Ensembl |
|
|
CA411099893 rs1601738869 |
317 | K>R | No |
ClinGen Ensembl |
|
|
rs766794072 CA10167772 |
319 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA411099802 rs1555915433 |
321 | E>K | No |
ClinGen Ensembl |
|
|
CA10167770 rs750984976 |
323 | T>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000116035 CA288335 rs587780193 |
325 | K>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA411099606 rs587780194 |
327 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323009474 rs866542645 |
329 | Y>H | No |
ClinGen Ensembl |
|
|
CA10167767 rs768973809 |
330 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs9625537 CA411099470 |
330 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA323009469 rs894075046 |
330 | Q>R | No |
ClinGen TOPMed |
|
|
CA411099432 rs1555915348 |
332 | L>F | No |
ClinGen Ensembl |
|
|
rs563752762 CA336800 |
335 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA411099326 rs563752762 |
335 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773846607 CA323006898 |
341 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10577634 RCV000221836 rs863224746 |
343 | I>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA16621060 RCV000482675 rs864622537 |
345 | H>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs201206424 CA294328 |
346 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs201206424 CA16020690 |
346 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs730881689 CA411097700 |
349 | K>Q | No |
ClinGen TOPMed |
|
|
rs587782268 CA167545 |
351 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411097644 rs1361935182 |
352 | N>D | No |
ClinGen gnomAD |
|
|
rs1060502709 CA411097631 |
352 | N>K | No |
ClinGen TOPMed |
|
|
rs1427613188 CA411097600 |
354 | L>F | No |
ClinGen TOPMed |
|
|
rs121908703 CA169293 |
356 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA411097505 rs1327661553 |
361 | D>G | No |
ClinGen TOPMed |
|
|
rs1064793566 RCV000485854 |
364 | I>missing | No |
ClinVar dbSNP |
|
|
rs774179198 CA193538 |
364 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1601726502 CA411097414 |
365 | K>N | No |
ClinGen Ensembl |
|
|
CA411097237 rs1601723767 |
366 | I>F | No |
ClinGen Ensembl |
|
|
CA411097239 rs1601723767 |
366 | I>V | No |
ClinGen Ensembl |
|
|
rs1601723630 CA411097168 |
368 | D>E | No |
ClinGen Ensembl |
|
|
CA10167722 rs755127902 |
368 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA288254 rs531398630 VAR_066012 |
371 | H>Y | confers a moderate risk of breast cancer; partially reduces kinase activity [UniProt] | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA411097107 rs1555913901 RCV000780177 |
372 | S>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1601723393 CA411097042 |
376 | G>E | No |
ClinGen Ensembl |
|
|
RCV001008187 rs1601723175 |
378 | T>missing | No |
ClinVar dbSNP |
|
|
RCV000482812 rs1064794965 |
381 | M>missing | No |
ClinVar dbSNP |
|
|
CA411096943 rs1569114039 |
381 | M>R | No |
ClinGen Ensembl |
|
|
rs375130261 CA294015 |
381 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769439021 CA10167718 |
383 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA323005974 rs202089930 |
383 | T>I | No |
ClinGen Ensembl |
|
|
CA411096877 rs1601722994 |
386 | G>R | No |
ClinGen Ensembl |
|
|
rs886039631 CA10588718 RCV000255399 |
390 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA323005920 rs200928781 |
390 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200928781 CA166521 |
390 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA411096820 rs587782184 |
392 | A>T | No |
ClinGen gnomAD |
|
|
rs373073383 CA164560 |
392 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs587780169 CA288262 |
394 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000312579 rs886041172 CA10603510 |
396 | L>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
RCV000479954 rs527878975 CA16621054 |
399 | V>G | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1476312560 CA411096776 |
400 | G>A | No |
ClinGen TOPMed |
|
|
rs1342820782 CA411096780 RCV000519455 |
400 | G>W | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA411096764 rs1601722432 |
401 | T>S | No |
ClinGen Ensembl |
|
|
CA658656827 rs1555913720 |
402 | A>V | No |
ClinGen Ensembl |
|
|
CA411096752 rs1175088679 |
402 | A>V | No |
ClinGen TOPMed |
|
|
rs1601722357 CA411096750 |
403 | G>R | No |
ClinGen Ensembl |
|
|
RCV000358352 rs886041455 |
404 | Y>missing | No |
ClinVar dbSNP |
|
|
CA294433 rs587782527 |
406 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA169341 VAR_024572 rs200649225 |
406 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs761095543 CA10167708 |
409 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16621053 rs1064796572 RCV000480625 |
411 | W>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1601722002 CA411096619 |
412 | S>R | No |
ClinGen Ensembl |
|
|
CA411096594 rs1601721915 |
414 | G>E | No |
ClinGen Ensembl |
|
|
CA411096584 rs1601721900 |
415 | V>I | No |
ClinGen Ensembl |
|
|
CA411096562 rs1601721850 |
416 | I>F | No |
ClinGen Ensembl |
|
|
CA411096560 RCV000523357 rs1555913642 |
416 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10167702 rs774870353 |
418 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA411096501 rs1601721712 |
419 | I>T | No |
ClinGen Ensembl |
|
|
CA10167685 rs762205611 |
420 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA411096479 rs578218280 |
420 | C>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA411096334 rs1483964791 |
422 | S>R | No |
ClinGen TOPMed |
|
|
RCV000160436 CA299086 rs730881691 |
423 | G>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs139366548 CA288272 |
424 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411096294 rs1423670346 |
425 | P>S | No |
ClinGen TOPMed |
|
|
rs1601720056 CA411096253 |
427 | F>S | No |
ClinGen Ensembl |
|
|
rs137853011 CA250528 VAR_022463 |
428 | S>F | may increase breast cancer risk [UniProt] | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1182200321 CA411096245 |
428 | S>P | No |
ClinGen TOPMed |
|
|
rs1601719955 CA411096216 |
430 | H>Y | No |
ClinGen Ensembl |
|
|
RCV000115995 rs587780175 CA288274 |
431 | R>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs17882922 VAR_021117 CA323005226 |
436 | L>M | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs200050883 CA151527 |
438 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411095971 rs1467664274 |
439 | Q>R | No |
ClinGen TOPMed |
|
|
RCV000115998 rs587780176 CA288278 |
440 | I>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
|
CA411095960 rs587780176 |
440 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA10167679 rs779383555 |
442 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA915952844 rs1601719449 |
445 | Y>* | No |
ClinGen Ensembl |
|
|
CA323005191 rs778246892 |
445 | Y>C | No |
ClinGen Ensembl |
|
|
rs121908705 CA230682 |
446 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323005140 rs17880867 VAR_021118 |
446 | N>K | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA323005135 VAR_021119 rs17881473 |
447 | F>I | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs750012749 CA411095685 |
448 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA10167678 RCV000586813 rs750012749 |
448 | I>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1601719186 CA411095534 |
452 | W>* | No |
ClinGen Ensembl |
|
|
CA10167674 rs763395924 |
453 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA411095457 rs1233346197 |
454 | E>G | No |
ClinGen TOPMed |
|
|
rs1060502702 CA16616575 |
461 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs751228409 CA10167659 |
462 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs763344790 CA411094359 |
469 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs876658449 CA411094353 |
470 | D>N | No |
ClinGen gnomAD |
|
|
rs876658449 CA10577626 RCV000219591 |
470 | D>Y | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA294041 rs370968992 |
475 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA288282 rs142763740 |
476 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760928861 CA10167656 |
477 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs762488591 CA323004624 RCV000587181 |
477 | T>I | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA411094162 rs1464731405 |
479 | E>A | No |
ClinGen gnomAD |
|
|
rs1060502701 CA411093862 |
487 | Q>H | No |
ClinGen Ensembl |
|
|
rs1601715793 CA411093888 |
487 | Q>R | No |
ClinGen Ensembl |
|
|
rs1439502759 CA411092752 |
488 | D>E | No |
ClinGen TOPMed |
|
|
CA411092681 rs1601702472 |
491 | M>K | No |
ClinGen Ensembl |
|
|
CA411092688 rs1555912088 |
491 | M>L | No |
ClinGen Ensembl |
|
|
rs1601702436 CA411092615 |
493 | R>G | No |
ClinGen Ensembl |
|
|
rs1601702414 CA411092586 |
493 | R>S | No |
ClinGen Ensembl |
|
|
CA411092596 rs1569104499 |
493 | R>T | No |
ClinGen Ensembl |
|
|
rs767043399 CA10167626 |
494 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1601702380 CA411092572 |
494 | K>R | No |
ClinGen Ensembl |
|
|
CA10167624 rs549945536 |
497 | D>G | No |
ClinGen 1000Genomes ExAC |
|
|
rs761750423 CA323000083 |
499 | L>P | No |
ClinGen Ensembl |
|
|
CA323000067 rs28909981 VAR_029155 |
500 | S>C | No |
ClinGen UniProt dbSNP gnomAD |
|
|
CA411092419 rs1060502721 |
501 | E>D | No |
ClinGen gnomAD |
|
|
VAR_021121 CA299092 rs17883172 |
501 | E>K | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
RCV000657698 CA411092388 rs587782489 |
504 | E>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs886039512 CA10588716 RCV000254950 |
510 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA411092325 rs1569104011 |
510 | Q>H | No |
ClinGen Ensembl |
|
|
CA411092328 rs1601701772 |
510 | Q>R | No |
ClinGen Ensembl |
|
|
CA411092323 rs1601701749 |
511 | V>I | No |
ClinGen Ensembl |
|
|
rs753560465 CA10167611 |
518 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10167610 rs200432447 |
519 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587780180 CA288294 |
519 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA293965 rs533475838 |
521 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780512032 CA411091299 |
525 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1212728170 CA411091293 |
525 | G>V | No |
ClinGen TOPMed |
|
|
rs1601697744 CA411091253 |
527 | A>V | No |
ClinGen Ensembl |
|
|
rs1175957439 CA411091022 |
537 | A>T | No |
ClinGen TOPMed |
|
|
rs1415501996 CA411091006 |
538 | V>A | No |
ClinGen gnomAD |
|
|
CA411090987 rs767414081 |
540 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs767414081 CA10167602 |
540 | A>S | No |
ClinGen ExAC gnomAD |
4 associated diseases with O96017
[MIM: 609265]: Li-Fraumeni syndrome 2 (LFS2)
A highly penetrant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed (PubMed:8118819 and PubMed:8718514) and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers
[MIM: 176807]: Prostate cancer (PC)
A malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. {ECO:0000269|PubMed:12533788}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 259500]: Osteogenic sarcoma (OSRC)
A sarcoma originating in bone-forming cells, affecting the ends of long bones. Note=The gene represented in this entry may be involved in disease pathogenesis.
[MIM: 114480]: Breast cancer (BC)
A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269|PubMed:12094328, ECO:0000269|PubMed:12454775, ECO:0000269|PubMed:12610780, ECO:0000269|PubMed:15818573, ECO:0000269|PubMed:21618645, ECO:0000269|PubMed:25619829}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Without disease ID
- A highly penetrant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed (PubMed:8118819 and PubMed:8718514) and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers
- A malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. {ECO:0000269|PubMed:12533788}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A sarcoma originating in bone-forming cells, affecting the ends of long bones. Note=The gene represented in this entry may be involved in disease pathogenesis.
- A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269|PubMed:12094328, ECO:0000269|PubMed:12454775, ECO:0000269|PubMed:12610780, ECO:0000269|PubMed:15818573, ECO:0000269|PubMed:21618645, ECO:0000269|PubMed:25619829}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR44167 | OVARIAN-SPECIFIC SERINE/THREONINE-PROTEIN KINASE LOK-RELATED |
| PANTHER Subfamily | PTHR44167:SF9 | SERINE_THREONINE-PROTEIN KINASE CHK2 |
| PANTHER Protein Class |
non-receptor serine/threonine protein kinase
protein modifying enzyme |
|
| PANTHER Pathway Category |
p53 pathway Chk2 |
|
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| 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. |
| PML body | A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
30 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| cellular response to bisphenol A | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a bisphenol A stimulus. |
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| cellular response to gamma radiation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum. |
| cellular response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organism exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| DNA damage checkpoint signaling | A signal transduction process that contributes to a DNA damage checkpoint. |
| DNA damage induced protein phosphorylation | The widespread phosphorylation of various molecules, triggering many downstream processes, that occurs in response to the detection of DNA damage. |
| DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest | A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage and resulting in the stopping or reduction in rate of the cell cycle. |
| DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator | A cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, resulting in the induction of the transcription of p21 (also known as WAF1, CIP1 and SDI1) or any equivalent protein, in response to the detection of DNA damage. |
| double-strand break repair | The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
| G2/M transition of mitotic cell cycle | The mitotic cell cycle transition by which a cell in G2 commits to M phase. The process begins when the kinase activity of M cyclin/CDK complex reaches a threshold high enough for the cell cycle to proceed. This is accomplished by activating a positive feedback loop that results in the accumulation of unphosphorylated and active M cyclin/CDK complex. |
| intrinsic apoptotic signaling pathway in response to DNA damage | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered. |
| intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage, and ends when the execution phase of apoptosis is triggered. |
| mitotic DNA damage checkpoint signaling | A signal transduction process involved in mitotic DNA damage checkpoint. |
| mitotic intra-S DNA damage checkpoint signaling | A mitotic cell cycle checkpoint that slows DNA synthesis in response to DNA damage by the prevention of new origin firing and the stabilization of slow replication fork progression. |
| mitotic spindle assembly | Mitotic bipolar spindle assembly begins with spindle microtubule nucleation from the separated spindle pole body, includes spindle elongation during prometaphase, and is complete when all kinetochores are stably attached the spindle, and the spindle assembly checkpoint is satisfied. |
| negative regulation of DNA damage checkpoint | Any process that stops, prevents, or reduces the frequency, rate or extent of a DNA damage checkpoint. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| positive regulation of anoikis | Any process that activates or increases the frequency, rate or extent of anoikis. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| positive regulation of transcription, DNA-templated | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| regulation of protein catabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| regulation of signal transduction by p53 class mediator | Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator. |
| regulation of transcription, DNA-templated | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| replicative senescence | A cell aging process associated with the dismantling of a cell as a response to telomere shortening and/or cellular aging. |
| response to glycoside | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glycoside stimulus. |
| signal transduction in response to DNA damage | A cascade of processes induced by the detection of DNA damage within a cell. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P39009 | DUN1 | DNA damage response protein kinase DUN1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9BYT3 | STK33 | Serine/threonine-protein kinase 33 | Homo sapiens (Human) | PR |
| Q95QC4 | zyg-8 | Serine/threonine-protein kinase zyg-8 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRESDVEAQ | QSHGSSACSQ | PHGSVTQSQG | SSSQSQGISS | SSTSTMPNSS | QSSHSSSGTL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSLETVSTQE | LYSIPEDQEP | EDQEPEEPTP | APWARLWALQ | DGFANLECVN | DNYWFGRDKS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CEYCFDEPLL | KRTDKYRTYS | KKHFRIFREV | GPKNSYIAYI | EDHSGNGTFV | NTELVGKGKR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RPLNNNSEIA | LSLSRNKVFV | FFDLTVDDQS | VYPKALRDEY | IMSKTLGSGA | CGEVKLAFER |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KTCKKVAIKI | ISKRKFAIGS | AREADPALNV | ETEIEILKKL | NHPCIIKIKN | FFDAEDYYIV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LELMEGGELF | DKVVGNKRLK | EATCKLYFYQ | MLLAVQYLHE | NGIIHRDLKP | ENVLLSSQEE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DCLIKITDFG | HSKILGETSL | MRTLCGTPTY | LAPEVLVSVG | TAGYNRAVDC | WSLGVILFIC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LSGYPPFSEH | RTQVSLKDQI | TSGKYNFIPE | VWAEVSEKAL | DLVKKLLVVD | PKARFTTEEA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LRHPWLQDED | MKRKFQDLLS | EENESTALPQ | VLAQPSTSRK | RPREGEAEGA | ETTKRPAVCA |
| AVL |