P78549
PR
Gene name |
NTHL1 |
Protein name |
Endonuclease III-like protein 1 |
Names |
hNTH1, Bifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyase, DNA glycosylase/AP lyase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4913 |
EC number |
4.2.99.18: Other carbon-oxygen lyases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for P78549
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7RDS | X-ray | 250 A | A | 64-312 | PDB |
| 7RDT | X-ray | 210 A | PDB | ||
| AF-P78549-F1 | Predicted | AlphaFoldDB |
410 variants for P78549
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs749337739 CA027801 RCV001038754 RCV002354989 |
2 | C>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA027883 RCV000794390 RCV002370075 rs780026159 |
3 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1474892742 CA394298863 RCV002431983 RCV001348752 |
4 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001245877 CA027655 rs764604281 RCV002436967 |
9 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001019155 COSM1217974 RCV000798390 rs753350404 CA027686 RCV003133619 |
11 | A>S | Familial adenomatous polyposis 3 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753350404 RCV002325530 CA394298702 RCV000798868 |
11 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001056296 RCV002365712 rs750166500 CA027717 |
13 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001021615 rs1596228346 RCV001044455 CA394298646 |
13 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394298652 RCV000807679 RCV002257974 rs750166500 |
13 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs767282292 CA027730 RCV001207339 RCV001022036 |
14 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394298616 rs762030002 RCV002256698 RCV001208008 CA276766773 |
15 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002478924 RCV002255542 rs930166212 CA276766774 RCV000822195 |
15 | R>T | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA394298612 RCV002336647 RCV000807336 rs1596228289 |
16 | M>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001023546 RCV001766854 CA394298585 rs1596228259 |
17 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs370539291 CA027754 RCV000814011 RCV001024035 |
18 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002345886 RCV000819128 rs549760347 CA394298565 |
19 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000792050 RCV001024430 RCV001766624 CA027789 rs372992221 |
19 | R>Q | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA027783 rs549760347 RCV000823099 RCV001024310 RCV002478928 |
19 | R>W | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000802855 CA027813 VAR_016125 rs3087469 RCV001024999 |
21 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001025341 CA394298548 rs1596228177 |
22 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs746090969 CA027818 RCV001057848 RCV002374937 |
22 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000822008 COSM968231 rs781328762 CA027827 RCV001025785 |
23 | L>P | Hereditary cancer-predisposing syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs931865828 RCV002360957 CA276766738 RCV000802537 |
23 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA027845 RCV000795884 rs747325774 RCV002370084 |
24 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1271271380 CA394298518 RCV000818618 RCV001294000 TCGA novel RCV002255539 |
24 | G>R | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD NCI-TCGA |
|
RCV000799812 rs1343729377 CA394298499 RCV002388469 |
25 | P>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA394298453 rs1430939825 RCV002440734 RCV000808918 |
28 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA394298460 RCV000809021 RCV001027384 RCV001203610 CA027868 rs529997128 |
28 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs749963973 RCV000819939 CA394298410 RCV002372336 |
31 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA027909 RCV002374897 rs749963973 RCV001049217 |
31 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000824649 RCV001019545 CA276766673 rs1034291686 |
32 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2302172 RCV001019876 RCV000879706 VAR_016126 CA027945 |
33 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000810751 CA394298379 rs369039003 RCV002381801 |
33 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000820565 CA394298338 RCV002397717 rs1596227883 |
35 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA027380 RCV001054038 RCV003160427 rs762937286 |
35 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA276766665 rs1056290046 RCV001017193 RCV002279708 |
36 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002256547 rs1161055704 CA394298331 RCV001816908 RCV000822332 |
37 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA027398 RCV002320298 rs541004726 RCV001054452 |
38 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000809382 RCV001009990 rs759555861 CA027403 |
38 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000815980 RCV002257982 CA394298322 rs1259870849 |
39 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA394298312 RCV002339660 rs1285624591 RCV001238757 |
40 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1421779919 RCV001318948 RCV002375416 CA394298298 |
41 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001010595 COSM21726 rs1388213392 CA394298281 |
42 | R>K | lung Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001010673 RCV000802631 rs527315265 CA027426 |
42 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002379490 CA027443 RCV001037901 rs778185523 |
43 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000807595 RCV001010720 rs747272786 CA027431 |
43 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1482983792 RCV002384386 CA394298237 RCV001312444 |
45 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002268378 RCV000961022 RCV001011260 CA027490 rs202082304 |
46 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000809621 rs375615004 CA7828361 RCV001011586 |
48 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1015408170 RCV000803402 CA276765721 RCV002388499 |
50 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001012077 rs374988261 RCV001040110 CA276765719 |
52 | H>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA276765716 rs923173693 RCV001221499 RCV002402677 |
52 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804043 rs1210160367 CA394298008 RCV002255529 |
55 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002397662 CA276765709 rs371105614 RCV000809525 |
57 | R>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000806226 rs566254536 CA276765708 RCV002257970 |
57 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001535481 COSM1376390 RCV000794648 CA7828357 rs139165943 RCV001012937 |
58 | P>L | Familial adenomatous polyposis 3 Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002402450 CA7828353 rs773364076 RCV001064629 |
59 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7828354 rs773364076 RCV001013093 RCV000805683 |
59 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000813521 rs376907606 CA7828355 RCV001013001 |
59 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs767591879 CA7828352 RCV001013758 RCV000820003 |
65 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7828350 rs774831009 RCV000808834 RCV001013720 |
65 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001071040 CA7828351 RCV002418558 rs774831009 |
65 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394297845 RCV000797626 rs1177326558 RCV002422718 CA394297842 |
66 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7828348 RCV001066597 rs749810824 COSM1708628 RCV002418550 |
67 | A>V | Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA7828347 RCV001014166 rs776076209 RCV001362920 |
68 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002418891 rs1429511641 CA394297743 RCV001297044 |
69 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA394297739 RCV002418773 rs1429511641 RCV001223824 |
69 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000822625 rs746458904 CA7828345 RCV001014556 |
71 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7828342 rs747885276 RCV000794751 RCV002422698 |
73 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1596223150 RCV001015375 RCV002549417 CA394297518 |
80 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1326931608 RCV002451605 CA394297459 RCV001247107 |
81 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002256734 CA394297214 rs1397863507 RCV001303684 RCV003153980 |
89 | P>A | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001016262 CA394297203 RCV000796495 rs753642509 |
89 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000657657 RCV000850062 CA200196 rs150766139 RCV000172911 RCV003137702 |
90 | Q>* | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002424861 RCV000803580 CA915946197 rs1596222995 |
91 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs372698989 CA7828337 RCV002255533 RCV000812392 |
92 | W>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs141903513 CA7828334 RCV000818344 RCV001017522 |
98 | N>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1442043769 RCV002440752 CA394296898 RCV000811253 |
98 | N>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002256676 rs1442043769 RCV002268429 CA394296901 RCV001066658 |
98 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000765258 CA7828332 RCV000592496 RCV001017807 RCV001800825 rs148104494 |
100 | R>C | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7828331 RCV002268292 RCV002501079 RCV000802521 rs145644817 RCV001017892 |
100 | R>H | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000801325 CA394295709 RCV002442659 rs1276674075 |
102 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001219533 rs959911360 CA276765608 RCV002322061 |
107 | D>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7828327 rs772576699 RCV002258117 RCV001058068 |
108 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394295499 RCV002256650 RCV001041935 rs1333635641 |
110 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7828325 RCV003169732 RCV001350268 rs747659604 |
111 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001067979 rs1306653290 RCV002320342 CA394295413 |
112 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1015524126 CA276765601 RCV002451195 RCV001048419 |
115 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001020379 rs1596222596 RCV001037264 CA394295281 |
116 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596222574 RCV001020505 CA394295217 |
117 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002256518 rs138812334 RCV000801950 CA7828322 |
119 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394295131 rs1186300844 RCV002451310 RCV001071197 |
120 | D>E | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1000576492 CA276765589 RCV000820392 RCV002257986 |
120 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7828321 RCV002456459 rs375347841 RCV001326774 |
121 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002352388 rs745986873 RCV000806918 CA394295076 |
123 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs745986873 RCV000804052 CA7828319 RCV002345803 |
123 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000804461 CA7828317 RCV001020940 rs143696592 |
124 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002343660 RCV000795098 rs149277519 CA7828314 |
125 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7828310 RCV001021037 RCV000820715 rs777263711 |
125 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7828311 RCV001062099 rs777263711 RCV002348448 |
125 | P>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs149277519 RCV001021012 CA7828312 RCV000794718 |
125 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001789786 RCV002365709 rs149277519 RCV002268420 CA7828313 RCV001055409 |
125 | P>T | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002352323 RCV000794253 rs536140679 CA7828281 |
127 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs370228590 CA7828278 RCV001759966 RCV001045946 RCV002363597 |
128 | R>C | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs370228590 RCV000817334 RCV001021245 RCV003153859 CA7828279 |
128 | R>G | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394294794 RCV001021267 RCV000791743 rs1324289477 |
128 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA394294798 rs1324289477 RCV001215684 RCV002365969 |
128 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs370228590 CA394294808 RCV001021244 |
128 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394294760 CA7828275 RCV000798528 RCV001021416 rs371328106 RCV000799280 RCV002352346 |
130 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1271178921 CA394294736 RCV000802241 RCV001021501 CA394294733 |
132 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
RCV001298234 CA394294717 rs1397440217 RCV002375346 |
133 | L>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA7828273 rs757412628 RCV001042202 RCV002320253 |
135 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001058306 rs1433716256 CA394294680 RCV002320308 |
136 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002332611 rs1596220473 RCV000798514 CA394294600 |
139 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394294553 rs1596220446 RCV002332599 RCV000795750 |
142 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA276764627 RCV002332652 RCV000807474 rs758667255 |
145 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7828270 RCV002327652 rs766774887 RCV001301663 TCGA novel |
146 | V>L | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC dbSNP NCI-TCGA |
|
CA7828269 RCV000809098 rs756597137 RCV001022441 |
147 | T>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002327666 RCV001304308 CA7828268 rs750992242 |
148 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002332684 CA7828266 RCV000816444 rs762393763 |
149 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7828263 rs764907191 RCV002332719 RCV000823171 |
150 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002339256 rs1461262968 RCV001051180 CA394294371 |
151 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001022648 CA394294380 RCV001068969 rs759156239 |
151 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394294359 RCV003166170 rs1379407122 RCV000798856 |
152 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000801523 CA7828260 RCV002336609 rs374489979 |
153 | R>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394294343 RCV000816025 RCV002336689 rs746940807 |
153 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001022746 RCV001065539 CA7828259 rs746940807 |
153 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002334474 CA394294327 RCV000794553 rs1431434201 |
155 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000796472 RCV002259018 CA394294329 rs1200691336 |
155 | R>W | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs748576083 CA7828258 RCV002334490 RCV000796990 |
156 | A>V | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001022934 RCV000817467 rs150437839 CA7828254 |
157 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7828255 RCV000799034 rs150437839 RCV002256512 |
157 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7828256 RCV001535743 rs376048896 RCV000822885 RCV001022917 |
157 | R>W | Familial adenomatous polyposis 3 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs749527022 CA7828253 RCV002339203 RCV001040980 |
158 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394294282 RCV002256744 RCV001338611 rs1472473035 |
160 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002290452 CA7828252 RCV002336641 RCV000806725 rs756403102 |
160 | T>K | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs756403102 CA7828251 RCV001023068 RCV000800146 |
160 | T>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394294279 RCV002336704 rs756403102 RCV000819947 |
160 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs781629683 CA394294276 RCV000805696 RCV002336636 |
161 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002336640 RCV000806528 rs1322013727 CA394294254 |
163 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000810184 rs1198246754 RCV001023343 CA394294221 |
166 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs968060928 RCV002336719 RCV000823124 CA276764562 |
167 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs766136810 CA7828243 RCV000818852 RCV002345882 |
171 | T>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394294143 rs1162857718 RCV000800987 RCV002336604 |
172 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_016127 RCV000767388 RCV000896408 CA7828239 RCV001816746 rs1805378 RCV001023853 |
176 | I>T | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1596220283 RCV001023825 CA394294123 |
176 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7828235 RCV001035640 rs561923127 RCV002346244 |
179 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
CA7828236 RCV000823489 rs561923127 RCV002345912 |
179 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
RCV001316869 CA276764498 RCV002350578 rs902449328 |
180 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1567369944 RCV001024021 RCV001063799 CA394294101 |
180 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1463175465 RCV002350534 CA394292597 RCV001298503 |
185 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001024455 rs1596219441 RCV001862289 CA394292368 |
191 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1243274364 RCV000800150 RCV002345782 CA394292317 |
192 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7828202 RCV000792690 RCV002352311 rs554393986 |
194 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001066291 CA394292003 RCV002355084 rs1226532313 |
199 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003153862 CA7828199 RCV001024816 RCV000817579 RCV002268310 rs200007034 |
201 | G>S | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs765358651 CA7828198 RCV000814427 RCV001024871 |
203 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002363103 CA394291627 RCV000811739 rs919177150 |
210 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000795061 rs919177150 RCV002256505 CA276763894 |
210 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000813666 CA7828192 rs772432408 RCV002352424 |
213 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748719278 RCV000793824 RCV002465780 RCV001025209 CA7828191 |
213 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000806170 RCV001025278 CA7828189 rs755619109 |
215 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs780658029 CA7828187 RCV000824271 RCV002256555 |
217 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000804564 rs756963327 RCV002360970 CA7828186 RCV001766671 |
221 | M>V | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001025598 CA7828183 rs758319892 RCV001058023 |
225 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7828182 RCV000802228 rs367577861 RCV001025626 |
226 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002363093 RCV000810584 CA394291048 rs1596219284 |
227 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002363094 CA394290982 rs1596219280 RCV000810736 |
229 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002363097 CA394290899 RCV000811180 rs1596219266 |
232 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs766473490 RCV001061913 RCV002374956 CA394290870 |
233 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA7828176 RCV002258111 RCV001055126 rs3211977 VAR_029318 |
234 | S>L | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000804775 rs1055874267 RCV001025970 RCV001535682 CA276763830 RCV001816871 |
235 | G>D | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001216478 RCV002375186 rs1308474938 CA394289333 |
240 | T>M | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1469572797 RCV001056242 RCV002374930 CA394289317 |
241 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000794237 CA394289285 RCV002386390 rs1169959065 |
243 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs147559648 RCV000801248 CA7828136 RCV001026335 |
246 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002379826 CA394289224 RCV001219222 rs1185854795 |
246 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA394289092 rs1184801355 RCV002393598 RCV001236415 |
251 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000822251 RCV002390698 rs145312239 CA276761803 |
252 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000801792 CA7828134 rs145312239 RCV001026563 |
252 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001026705 RCV000937365 rs577781337 CA7828132 |
256 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7828133 RCV001070275 RCV002402476 rs577781337 |
256 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002397568 RCV000792812 rs577781337 CA394288960 |
256 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000815936 RCV003153857 RCV002268308 RCV001026740 CA7828130 rs373067940 |
257 | K>R | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7828128 RCV000812645 rs199698117 RCV001026764 |
258 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7828127 rs367765503 RCV001026790 |
259 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA394288885 RCV001026794 rs1437503034 RCV000792810 |
259 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001789784 RCV000814330 rs779992803 CA7828125 RCV001026902 |
263 | R>C | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002256663 rs779992803 CA394288791 RCV001051543 |
263 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7828124 COSM178307 RCV000799534 rs756036462 RCV001026916 |
263 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000796867 RCV002422713 CA7828123 rs2233522 |
264 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7828121 RCV001026981 rs148474733 RCV000819782 |
265 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001026979 rs148474733 RCV000811178 CA7828120 RCV002291703 |
265 | A>T | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001306398 rs758733120 RCV002418929 CA7828118 |
266 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001784408 RCV001027136 rs753029097 RCV000792395 CA7828117 |
269 | W>* | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394288640 rs1252431964 RCV001057748 RCV002418506 |
270 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001061092 RCV001027252 rs1596216138 CA394287654 |
273 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7828093 RCV000804692 RCV002424866 rs763770399 |
274 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000794651 CA394287554 rs1596216112 RCV002424810 |
276 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA7828090 RCV002406832 rs144556130 RCV000812351 |
276 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs895744368 CA276760204 RCV001027375 RCV000791544 |
277 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs369032190 CA276760199 RCV000816420 RCV002427016 |
277 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV001017611 rs149287105 RCV001067983 CA7828089 |
279 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001297992 CA276760192 RCV002437012 rs149287105 |
279 | N>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001037612 CA394287499 rs1376479687 RCV002434438 |
279 | N>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001017881 CA7828087 rs759411504 RCV000802310 |
283 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs139309757 RCV000767389 RCV000816265 RCV001018027 CA7828085 |
286 | G>S | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001018044 RCV001535451 rs146347092 CA7828083 RCV000760534 |
287 | Q>* | Familial adenomatous polyposis 3 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002442755 CA394287277 RCV000821199 rs748379588 |
289 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs571813695 RCV001064467 RCV002374968 CA276760162 |
296 | R>C | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000807053 RCV002442698 rs148253565 CA7828076 |
296 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs763568491 CA7828074 RCV001018550 RCV001036786 |
299 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200420874 RCV002377473 RCV001346984 CA7828073 |
301 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000814532 RCV001018659 CA7828072 rs200420874 |
301 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA7828070 RCV000801236 rs759356343 RCV002370117 |
302 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002370108 rs770964367 CA7828069 RCV000799505 |
305 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000821534 RCV001019003 rs367629024 CA7828067 |
307 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394286986 rs1337853224 RCV000800193 RCV002442653 |
309 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs375024045 RCV001019169 CA276760101 RCV000823817 |
311 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001019218 CA394286943 rs1395305678 RCV001206335 |
312 | L>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA394298856 rs1227159518 |
4 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1179131194 CA394298840 |
5 | Q>* | No |
ClinGen gnomAD |
|
|
rs1179131194 CA394298853 |
5 | Q>K | No |
ClinGen gnomAD |
|
|
CA394298832 rs756332498 |
5 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA027582 rs756332498 |
5 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA027603 rs566165031 |
6 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs370913375 CA027594 |
6 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394298793 rs1489806329 |
7 | S>A | No |
ClinGen gnomAD |
|
|
CA027634 rs552723791 |
7 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA276766801 rs552723791 |
7 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394298769 rs751927624 |
8 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751927624 CA027647 |
8 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751927624 CA394298767 |
8 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000812615 rs764604281 CA394298737 |
9 | M>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
RCV001227472 CA394298744 rs1277993259 |
9 | M>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1346158495 CA394298715 |
10 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394298706 rs1305523200 |
10 | T>S | No |
ClinGen gnomAD |
|
|
rs1413587495 CA394298669 |
12 | L>S | No |
ClinGen TOPMed |
|
|
rs760388875 CA027705 |
13 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs767282292 RCV001213594 CA276766775 |
14 | A>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs376966505 CA027746 |
16 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000802597 rs1596228271 CA394298590 |
17 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs370539291 CA027763 |
18 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747325774 CA027835 |
24 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343729377 CA394298494 |
25 | P>L | No |
ClinGen gnomAD |
|
|
rs1173561620 CA394298502 |
25 | P>S | No |
ClinGen TOPMed |
|
|
CA394298480 rs1406320674 |
26 | G>E | No |
ClinGen gnomAD |
|
|
CA394298486 rs1456331577 |
26 | G>W | No |
ClinGen gnomAD |
|
|
CA394298451 rs1430939825 |
28 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA394298440 RCV000808163 rs753200685 |
29 | P>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs753200685 RCV000813233 CA027874 |
29 | P>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs779612126 CA027877 |
30 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394298425 rs779612126 |
30 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394298399 rs1596227962 |
32 | C>G | No |
ClinGen Ensembl |
|
|
CA394298384 rs1265227121 |
32 | C>W | No |
ClinGen gnomAD |
|
|
CA027938 rs369039003 |
33 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1274325491 CA394298368 |
33 | R>S | No |
ClinGen gnomAD |
|
|
CA394298362 rs1567376138 |
34 | E>K | No |
ClinGen Ensembl |
|
|
CA027369 rs763847748 |
34 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA394298336 rs1056290046 |
36 | P>T | No |
ClinGen TOPMed |
|
|
rs1453838226 CA394298328 |
37 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA276766637 rs759555861 |
38 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA027420 rs776714028 |
39 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA394298309 RCV000811166 rs1411639953 |
40 | R>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
| TCGA novel | 43 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596227700 RCV000806754 CA394298259 |
43 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394298270 rs747272786 |
43 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA027458 rs772384035 |
44 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs564610639 CA027474 |
45 | A>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA394298213 rs1274541982 |
47 | E>Q | No |
ClinGen gnomAD |
|
|
CA394298068 rs1209679396 |
51 | S>G | No |
ClinGen gnomAD |
|
|
rs1567372419 CA394298035 |
53 | S>N | No |
ClinGen Ensembl |
|
|
CA394297934 RCV000820504 rs1596223384 |
62 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1356728287 CA394297890 |
64 | L>P | No |
ClinGen TOPMed |
|
|
CA7828346 rs368897948 |
70 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596223211 CA394297671 |
73 | S>G | No |
ClinGen Ensembl |
|
|
rs1346428624 RCV001060216 CA394297578 |
76 | G>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1422162562 CA394297538 |
78 | G>E | No |
ClinGen TOPMed |
|
|
CA394297496 rs1232383882 |
80 | E>G | No |
ClinGen gnomAD |
|
|
rs1432630427 CA394297365 |
83 | K>N | No |
ClinGen gnomAD |
|
|
rs1364808920 CA394297341 |
85 | P>T | No |
ClinGen gnomAD |
|
|
rs1319706073 CA394297328 RCV001056028 |
86 | V>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1596223048 RCV000811448 CA394297314 |
87 | W>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7828338 rs753642509 |
89 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397863507 CA394297211 |
89 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1228972041 CA394297156 |
91 | D>Y | No |
ClinGen TOPMed |
|
|
CA394297133 rs1375251505 |
92 | W>L | No |
ClinGen gnomAD |
|
|
CA7828336 RCV001231831 rs750435227 |
93 | Q>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs369262985 CA276765653 |
94 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs201671098 CA7828335 RCV000808595 |
95 | Q>* | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA394296972 rs1596222888 |
97 | V>G | No |
ClinGen Ensembl |
|
|
rs776024837 CA7828330 |
101 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA276765616 rs74624206 |
102 | M>L | No |
ClinGen Ensembl |
|
|
rs1596222785 CA394295716 |
102 | M>R | No |
ClinGen Ensembl |
|
|
CA394295718 rs1596222785 RCV000819772 |
102 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394295638 RCV001218531 rs1455998081 |
104 | N>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs565550228 CA276765610 |
105 | K>N | No |
ClinGen 1000Genomes |
|
|
rs1341113327 CA394295608 |
105 | K>R | No |
ClinGen gnomAD |
|
|
rs760130778 CA7828328 |
107 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA394295570 rs760130778 |
107 | D>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000803262 rs760130778 CA394295556 |
107 | D>Y | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 111 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386204098 RCV001070608 CA394295396 |
113 | L>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA7828323 rs768318722 |
116 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 119 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs545731865 CA7828320 |
123 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| rs763525759 | 125 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394295043 rs777263711 |
125 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596222426 CA394295028 RCV000797657 |
126 | K>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs763525759 | 127 | V>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394294811 rs1596220551 |
127 | V>G | No |
ClinGen Ensembl |
|
|
rs777988627 CA7828276 |
129 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1162307066 CA394294773 |
130 | Y>H | No |
ClinGen TOPMed |
|
|
rs1596220526 CA394294767 |
130 | Y>S | No |
ClinGen Ensembl |
|
|
rs1366983655 CA394294700 |
134 | L>Q | No |
ClinGen gnomAD |
|
|
CA394294630 rs1177580110 |
138 | L>V | No |
ClinGen gnomAD |
|
|
CA394294591 rs377360166 |
140 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1424374494 CA394294584 |
140 | S>R | No |
ClinGen gnomAD |
|
|
RCV000805617 CA7828271 rs377360166 |
140 | S>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA276764631 rs113462940 |
141 | Q>H | No |
ClinGen Ensembl |
|
|
CA394294504 rs1451036395 |
144 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1306012390 CA394294409 |
149 | G>V | No |
ClinGen TOPMed |
|
|
rs1238418683 CA394294395 |
150 | A>V | No |
ClinGen TOPMed |
|
|
CA7828262 rs759156239 |
151 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA7828261 rs776464671 |
152 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1451809479 CA394294297 |
158 | G>D | No |
ClinGen TOPMed |
|
|
CA394294271 rs1274425099 |
161 | V>A | No |
ClinGen gnomAD |
|
|
CA7828249 rs781629683 |
161 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7828248 rs757736619 |
162 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314362714 CA394294250 |
163 | S>N | No |
ClinGen gnomAD |
|
|
RCV001247800 rs1288936702 CA394294190 |
168 | D>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1377761428 RCV001064398 CA394294195 |
168 | D>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1567369997 CA394294178 |
169 | D>G | No |
ClinGen Ensembl |
|
|
CA7828246 rs764702496 |
169 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 170 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773170479 CA7828241 |
174 | K>T | No |
ClinGen ExAC |
|
|
CA7828240 rs772100661 |
175 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000807961 rs772100661 CA394294128 |
175 | L>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 177 | Y>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7828238 rs551068959 |
178 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs561923127 CA394294105 |
179 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1567369944 CA394294099 |
180 | G>C | No |
ClinGen Ensembl |
|
|
rs1192158230 CA394294080 |
182 | W>* | No |
ClinGen gnomAD |
|
|
CA7828233 rs746192138 |
183 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA394292370 RCV001052800 rs1385660445 |
191 | Q>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA7828204 rs767203248 |
193 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA394292207 rs1339505198 |
195 | I>T | No |
ClinGen TOPMed |
|
|
rs1455020789 CA394292091 |
198 | Q>* | No |
ClinGen Ensembl |
|
|
CA394292005 rs1226532313 |
199 | H>P | No |
ClinGen gnomAD |
|
|
rs1300126455 CA394292008 |
199 | H>Y | No |
ClinGen gnomAD |
|
|
CA394291936 rs1397844006 |
201 | G>D | No |
ClinGen gnomAD |
|
|
CA394291910 rs1271691259 |
202 | G>A | No |
ClinGen TOPMed |
|
|
CA7828197 rs759754271 |
204 | I>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000813038 rs897842210 CA276763897 |
205 | P>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs776654917 CA7828196 RCV001343095 |
206 | A>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA394291676 rs1167072138 |
209 | A>T | No |
ClinGen gnomAD |
|
|
CA394291485 RCV000802829 rs1596219358 |
212 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1483329605 CA394291404 |
215 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1247089981 CA394291280 |
220 | K>Q | No |
ClinGen gnomAD |
|
|
rs751282646 CA7828185 |
224 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7828181 rs765168342 |
230 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs759558139 CA7828180 |
231 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs766473490 CA7828178 |
233 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA394290797 rs1596219234 RCV000815803 |
236 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394289361 RCV000822923 rs750490014 |
239 | D>E | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA276761818 rs3087468 VAR_016128 |
239 | D>Y | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA7828138 rs757590964 |
241 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596216485 RCV000800137 CA394289307 |
242 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394289274 rs992194912 |
243 | H>Q | No |
ClinGen TOPMed |
|
|
rs1475205147 CA394289200 |
247 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA394289196 RCV000804850 rs1596216455 |
248 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs763365969 CA7828135 |
248 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA276761802 rs879181418 |
254 | K>E | No |
ClinGen gnomAD |
|
|
rs879049826 CA276761801 |
254 | K>T | No |
ClinGen gnomAD |
|
|
CA394288981 rs1274579963 |
255 | A>T | No |
ClinGen gnomAD |
|
|
RCV000800260 rs1411465858 CA394288944 |
257 | K>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA7828129 rs199698117 |
258 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1388969000 CA394288924 |
258 | S>Y | No |
ClinGen TOPMed |
|
|
CA394288863 rs1330069064 |
261 | E>K | No |
ClinGen TOPMed |
|
|
CA394288810 RCV001208207 rs749047684 |
262 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA7828126 rs749047684 |
262 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394288836 rs1351830163 |
262 | T>S | No |
ClinGen gnomAD |
|
|
CA394288774 rs756036462 |
263 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765738378 CA7828116 |
269 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1315020256 CA394288633 RCV001307035 |
270 | L>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs763770399 CA7828092 |
274 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176002553 CA394287589 |
275 | W>* | No |
ClinGen TOPMed |
|
|
CA394287529 rs1426153929 |
277 | E>D | No |
ClinGen gnomAD |
|
|
rs1596216098 RCV000821108 CA394287527 |
278 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA276760186 rs939350999 RCV001041618 |
281 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1486594694 CA394287433 |
282 | L>* | No |
ClinGen gnomAD |
|
|
CA394287373 rs1343159035 |
285 | F>I | No |
ClinGen gnomAD |
|
|
rs1209483262 CA394287335 |
286 | G>A | No |
ClinGen TOPMed |
|
|
rs139309757 CA394287339 |
286 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772318758 CA7828082 |
288 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs748379588 CA7828081 |
289 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA394287222 rs1396773363 |
292 | P>L | No |
ClinGen gnomAD |
|
|
CA394287203 rs1169243576 |
294 | H>N | No |
ClinGen gnomAD |
|
|
CA394287194 rs1372041658 |
295 | P>A | No |
ClinGen gnomAD |
|
|
CA7828078 rs754220493 |
295 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7828077 rs571813695 |
296 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA276760164 rs571813695 |
296 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1356886015 CA394287105 |
301 | L>P | No |
ClinGen TOPMed |
|
|
rs764956290 CA7828071 |
302 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA7828068 rs770964367 |
305 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1320734862 CA394287027 |
306 | C>Y | No |
ClinGen TOPMed |
|
|
rs367629024 CA394287007 |
307 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7828064 rs748270262 |
310 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs950957418 CA276760085 |
312 | L>F | No |
ClinGen Ensembl |
|
|
rs778951506 CA7828063 |
313 | L>R | No |
ClinGen ExAC gnomAD |
1 associated diseases with P78549
[MIM: 616415]: Familial adenomatous polyposis 3 (FAP3)
A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. {ECO:0000269|PubMed:25938944}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. {ECO:0000269|PubMed:25938944}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for P78549
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Helix-hairpin-helix motif | 200 - 223 | IPR000445 |
| domain | HhH-GPD domain | 130 - 288 | IPR003265 |
| conserved_site | Endonuclease III-like, iron-sulphur cluster loop motif | 289 - 309 | IPR003651 |
| conserved_site | Endonuclease III-like, conserved site-2 | 202 - 231 | IPR004036 |
Functions
| Description | ||
|---|---|---|
| EC Number | 4.2.99.18 | Other carbon-oxygen lyases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| 4 iron, 4 sulfur cluster binding | Binding to a 4 iron, 4 sulfur (4Fe-4S) cluster; this cluster consists of four iron atoms, with the inorganic sulfur atoms found between the irons and acting as bridging ligands. |
| class I DNA-(apurinic or apyrimidinic site) endonuclease activity | Catalysis of the cleavage of an AP site 3' of the baseless site by a beta-lyase mechanism, leaving an unsaturated aldehyde, termed a 3'-(4-hydroxy-5-phospho-2-pentenal) residue, and a 5'-phosphate. |
| damaged DNA binding | Binding to damaged DNA. |
| DNA N-glycosylase activity | Catalysis of the removal of damaged bases by cleaving the N-C1' glycosidic bond between the target damaged DNA base and the deoxyribose sugar. The reaction releases a free base and leaves an apurinic/apyrimidinic (AP) site. |
| DNA-(apurinic or apyrimidinic site) endonuclease activity | Catalysis of the cleavage of the C-O-P bond in the AP site created when DNA glycosylase removes a damaged base, involved in the DNA base excision repair pathway (BER). |
| double-stranded DNA binding | Binding to double-stranded DNA. |
| endonuclease activity | Catalysis of the hydrolysis of ester linkages within nucleic acids by creating internal breaks. |
| metal ion binding | Binding to a metal ion. |
| oxidized purine nucleobase lesion DNA N-glycosylase activity | Catalysis of the removal of oxidized purine bases by cleaving the N-C1' glycosidic bond between the oxidized purine and the deoxyribose sugar. The reaction involves the formation of a covalent enzyme-substrate intermediate. Release of the enzyme and free base by a beta-elimination or a beta, gamma-elimination mechanism results in the cleavage of the DNA backbone 3' of the apurinic (AP) site. |
| oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity | Catalysis of the removal oxidized pyrimidine bases by cleaving the N-C1' glycosidic bond between the oxidized pyrimidine and the deoxyribose sugar. The reaction involves formation of a covalent enzyme-pyrimidine base intermediate. Release of the enzyme and free base by a beta-elimination or a beta, gamma-elimination mechanism results in the cleavage of the DNA backbone 3' of the apyrimidinic (AP) site. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| base-excision repair, AP site formation | The formation of an AP site, a deoxyribose sugar with a missing base, by DNA glycosylase which recognizes an altered base in DNA and catalyzes its hydrolytic removal. This sugar phosphate is the substrate recognized by the AP endonuclease, which cuts the DNA phosphodiester backbone at the 5' side of the altered site to leave a gap which is subsequently repaired. |
| depyrimidination | The disruption of the bond between the sugar in the backbone and the C or T base, causing the base to be removed and leaving a depyrimidinated sugar. |
| nucleotide-excision repair | A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). |
| nucleotide-excision repair, DNA incision, 5'-to lesion | The endonucleolytic cleavage of the damaged strand of DNA 5' to the site of damage. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. The incision follows the incision formed 3' to the site of damage. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MCSPQESGMT | ALSARMLTRS | RSLGPGAGPR | GCREEPGPLR | RREAAAEARK | SHSPVKRPRK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AQRLRVAYEG | SDSEKGEGAE | PLKVPVWEPQ | DWQQQLVNIR | AMRNKKDAPV | DHLGTEHCYD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SSAPPKVRRY | QVLLSLMLSS | QTKDQVTAGA | MQRLRARGLT | VDSILQTDDA | TLGKLIYPVG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FWRSKVKYIK | QTSAILQQHY | GGDIPASVAE | LVALPGVGPK | MAHLAMAVAW | GTVSGIAVDT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HVHRIANRLR | WTKKATKSPE | ETRAALEEWL | PRELWHEING | LLVGFGQQTC | LPVHPRCHAC |
| 310 | |||||
| LNQALCPAAQ | GL |