Q8N653
PR
Gene name |
LZTR1 |
Protein name |
Leucine-zipper-like transcriptional regulator 1 |
Names |
LZTR-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8216 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8N653
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N653-F1 | Predicted | AlphaFoldDB |
1048 variants for Q8N653
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001201227 RCV002447045 RCV001859216 CA10118268 rs764439278 |
8 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10118266 RCV002429718 RCV001065942 rs575193991 |
8 | G>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10118269 RCV002438612 RCV002291680 rs756485244 RCV001199922 RCV001055587 RCV000623977 |
9 | G>A | Noonan syndrome 10 Hereditary cancer-predisposing syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587777613 RCV002436233 RCV003129785 RCV002433625 RCV000412923 RCV000680837 RCV000133460 RCV002271494 |
10 | Q>missing | Noonan syndrome 2 Schwannomatosis 2 Breast-ovarian cancer, familial, susceptibility to, 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001203015 RCV002339508 CA10118274 rs578100969 |
16 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001330295 RCV002357168 rs1924227635 RCV001871810 |
20 | A>T | Noonan syndrome 10 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770762358 RCV000523878 CA10118278 RCV002358417 RCV001788275 |
20 | A>V | Noonan syndrome 10 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1924233130 RCV001266915 |
55 | R>G | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000509558 CA10603386 rs886041418 RCV000290381 |
68 | R>S | LZTR1-Related Disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_081292 | 71 | H>R | SWNTS2; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_081293 | 81 | Y>del | SWNTS2 [UniProt] | Yes | UniProt |
|
CA410778794 rs1555927321 RCV000658483 RCV001330292 |
91 | M>T | Noonan syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1135401945 RCV000496323 CA410778792 RCV001856992 RCV000522143 |
91 | M>V | Noonan syndrome 10 RASopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002325344 RCV000681075 CA410778892 rs1309568769 |
104 | S>F | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
| VAR_081294 | 105 | W>R | GLM; increased Ras signaling [UniProt] | Yes | UniProt |
|
RCV001330294 CA410779223 rs1358951592 |
108 | A>T | Noonan syndrome 10 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002450954 RCV001824756 rs756852884 RCV001813469 RCV000414293 CA10118381 |
115 | P>L | Noonan syndrome and Noonan-related syndrome Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs769001939 RCV002456412 RCV002225132 RCV001314262 CA10118387 |
118 | R>H | Schwannomatosis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.622e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_075657 | 119 | Y>C | NS10; increased Ras signaling [UniProt] | Yes | UniProt |
|
RCV000859982 CA410779337 rs1249605552 |
120 | H>Q | Noonan syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1569154492 RCV000735434 VAR_081295 CA410779341 |
121 | H>D | Noonan syndrome 2 NS2; unknown pathological significance; no effect on RAS-MAPK signaling; no effect on stability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002460141 rs1569154492 RCV001303802 CA410779343 |
121 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002453416 RCV000087293 CA150701 VAR_071145 RCV001200448 rs587777177 |
122 | S>L | Schwannomatosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome SWNTS2; increased Ras signaling; decreased binding to Ras [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001174666 rs1924439391 RCV001383256 |
125 | V>missing | Schwannomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000997873 VAR_081296 RCV001805965 rs755783378 RCV002354912 |
125 | V>missing | Hereditary cancer-predisposing syndrome SWNTS2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
VAR_081296 rs755783378 |
125 | V>del | SWNTS2; unknown pathological significance [UniProt] | Yes |
UniProt dbSNP |
|
CA410779588 RCV001296523 RCV002322188 rs1425031926 |
135 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000788490 CA410779592 RCV002325490 rs1601717299 |
136 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002322190 CA10118433 rs146627447 RCV001297713 |
137 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_081297 | 143 | N>S | NS10; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs1924461126 RCV002337086 RCV001036149 |
152 | L>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002338821 CA10603690 rs886041770 RCV000316435 |
152 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002339632 RCV001230589 rs1924461657 |
154 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1924462309 RCV001290635 RCV001228301 RCV003163777 |
161 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569154722 RCV001380282 CA410779891 RCV000785628 |
162 | W>* | Schwannomatosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001813580 rs200806641 CA10118446 RCV002339507 RCV001203002 |
163 | T>M | Noonan syndrome and Noonan-related syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001542701 rs781431741 CA10118451 VAR_081298 RCV000482299 RCV002341137 |
170 | R>Q | Schwannomatosis 2 Hereditary cancer-predisposing syndrome SWNTS2; increased RAS-MAPK signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA10118450 VAR_081299 rs757502214 |
170 | R>W | Variant assessed as Somatic; 0.0 impact. NS2; when associated with T-205 [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10118485 RCV001174625 RCV003130172 RCV002348593 rs774992323 |
181 | T>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_081300 | 187 | L>R | SWNTS2; decreased binding to Ras [UniProt] | Yes | UniProt |
|
RCV002558778 RCV001197728 rs1870169267 RCV001174823 |
193 | Y>C | Schwannomatosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371522487 RCV002356870 RCV001201245 CA10118497 RCV001344864 |
197 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_081301 | 198 | R>G | GLM; increased Ras signaling; decreased ubiquitination of Ras [UniProt] | Yes | UniProt |
| VAR_081302 | 202 | M>R | SWNTS2; decreased binding to Ras [UniProt] | Yes | UniProt |
|
RCV002357181 RCV001340641 rs1924522828 |
203 | W>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_081303 rs1287917092 CA410780317 |
205 | I>T | NS2; unknown pathological significance; when associated with W-170 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
RCV002290002 RCV000735431 RCV000760481 CA10118525 rs150419186 RCV001330297 RCV002360863 |
210 | R>* | Noonan syndrome 10 Schwannomatosis 2 Hereditary cancer-predisposing syndrome Noonan syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_081304 | 210 | R>del | NS2 and SWNTS2 [UniProt] | Yes | UniProt |
|
RCV000681412 rs1302923931 CA410780389 RCV002360709 |
217 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_081305 | 217 | E>A | NS2; unknown pathological significance; no effect on RAS-MAPK signaling; decreased stability [UniProt] | Yes | UniProt |
|
RCV001290561 CA10118584 RCV002543010 rs749437251 RCV002375333 |
220 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10118586 rs369204535 RCV001229706 RCV002366028 |
223 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002360708 rs752439876 CA10118593 RCV000681203 |
230 | N>S | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs773696598 RCV002365716 CA10118599 RCV001056588 RCV002291714 |
237 | R>Q | Noonan syndrome 10 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs146197956 RCV002368145 RCV001348426 CA10118598 |
237 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001257442 rs1423756155 |
241 | F>S | Noonan syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003151148 CA410780579 rs1601718760 RCV000788720 |
244 | S>P | Noonan syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000191029 VAR_075658 rs797045166 CA204982 |
247 | S>N | Noonan syndrome 10 NS10; increased RAS-MAPK signaling; decreased stability; no effect on localization to Golgi apparatus [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001526613 RCV002381647 rs869320686 RCV000623699 VAR_075659 RCV001175007 RCV000413889 CA358852 RCV000191027 RCV000763072 |
248 | G>R | Fetal cystic hygroma Noonan syndrome 10 Schwannomatosis 2 Variant assessed as Somatic; 0.0 impact. RASopathy Hereditary cancer-predisposing syndrome Inborn genetic diseases NS10 and GLM; increased RAS-MAPK signaling; decreased ubiquitination of Ras; decreased stability; no effect on localization to Golgi apparatus [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_081306 | 253 | N>del | NS10; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001291506 rs780267761 RCV002411278 RCV000414560 |
258 | F>missing | Hereditary cancer-predisposing syndrome Autism spectrum disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340180 rs776759823 CA10118610 RCV002412064 |
262 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002413342 RCV000485308 CA10118612 rs144573377 |
263 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10118645 rs758651123 RCV001298966 RCV002430096 |
275 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001330298 RCV002442408 RCV001193027 RCV000681035 CA410781220 RCV001266041 rs1390048261 |
281 | P>L | Noonan syndrome 10 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002233108 RCV000681082 RCV000761304 rs1223430276 RCV003151134 VAR_081307 RCV001813545 CA410781238 |
283 | R>Q | Noonan syndrome 10 Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome 1 NS10 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000658480 RCV000191028 VAR_075660 CA204980 RCV002444774 rs797045165 RCV000763073 |
284 | R>C | Noonan syndrome 10 Schwannomatosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome NS10 and SWNTS2; increased RAS-MAPK signaling; decreased stability; no effect on localization to Golgi apparatus [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
rs768361273 RCV002222681 CA10118651 RCV001228996 RCV002447149 |
284 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA10118653 RCV000788352 VAR_081308 RCV003099974 RCV002447879 CA410781265 rs773016962 |
286 | G>R | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome SWNTS2; unknown pathological significance; no effect on stability [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD UniProt |
| VAR_075661 | 287 | H>Y | NS10; increased Ras signaling [UniProt] | Yes | UniProt |
| VAR_081309 | 288 | T>I | GLM; increased Ras signaling [UniProt] | Yes | UniProt |
| VAR_081310 | 294 | R>L | NS10; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001813570 CA10118659 rs765881289 RCV002445228 RCV001040800 |
302 | A>V | Noonan syndrome and Noonan-related syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002372731 rs1386054181 RCV001007902 RCV001860580 |
319 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_081311 | 322 | E>del | SWNTS2 [UniProt] | Yes | UniProt |
|
RCV002375136 rs778587887 CA10118673 RCV001205124 |
327 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002384411 RCV001320353 rs777443417 CA10118676 |
330 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001805197 RCV001293930 RCV002358639 rs149850248 RCV000578630 RCV001310194 CA10118698 |
340 | R>* | Noonan syndrome 10 Schwannomatosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002357164 RCV001326639 rs368589786 CA10118700 |
340 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_081312 | 340 | R>del | SWNTS2 [UniProt] | Yes | UniProt |
|
RCV000627478 RCV001267719 rs1555928249 |
344 | S>missing | Noonan syndrome 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368649599 RCV002402921 CA10118709 RCV001329630 RCV002546345 |
352 | Y>S | Hereditary cancer-predisposing syndrome Noonan syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001813447 RCV001193024 CA10118715 RCV000329167 RCV001799649 RCV000763074 RCV001706423 RCV000736158 RCV002252087 RCV002429235 rs189150283 |
362 | R>* | Schwannomatosis 2 Noonan syndrome and Noonan-related syndrome Hereditary cancer-predisposing syndrome Noonan syndrome 2 Schwannomatosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001251317 rs745476291 CA10118716 RCV002430053 |
362 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10118729 rs762889850 RCV001813583 RCV002451611 RCV001247489 |
382 | S>L | Noonan syndrome and Noonan-related syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_081313 RCV001235475 rs767354230 RCV001779139 RCV002327567 CA10118755 |
392 | A>V | Hereditary cancer-predisposing syndrome SWNTS2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA10118757 rs373591504 RCV001342538 RCV002222702 RCV002341702 |
395 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| VAR_081314 | 400 | M>R | SWNTS2; unknown pathological significance; no effect on stability; no effect on localization to Golgi apparatus [UniProt] | Yes | UniProt |
|
VAR_071146 CA410773922 rs1470449160 |
404 | G>R | Variant assessed as Somatic; 0.0 impact. SWNTS2; increased Ras signaling; decreased binding to Ras [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001375986 CA501019 RCV000765613 RCV000413186 RCV000788318 rs747430075 RCV001813471 |
412 | R>C | Non-immune hydrops fetalis Noonan syndrome and Noonan-related syndrome Schwannomatosis 2 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001337005 RCV001293931 rs746064505 RCV002418990 RCV002547360 CA10118770 |
418 | R>S | Noonan syndrome 10 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001193031 rs1253225013 RCV001597253 RCV001813575 CA410774372 RCV002379746 |
428 | T>M | Noonan syndrome and Noonan-related syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA410774472 rs1157807812 RCV002384372 RCV001305035 |
435 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs369722558 RCV000681416 RCV002386155 CA10118809 |
435 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10118811 rs770933647 RCV001855426 RCV002386139 RCV000754920 |
437 | W>* | Hereditary cancer-predisposing syndrome Noonan syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV002384019 RCV001264529 RCV000523868 CA10118817 rs201070853 |
445 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200296313 RCV002384413 CA10118858 RCV001320934 |
452 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_071147 | 456 | V>G | SWNTS2; increased Ras signaling; impaired subcellular location [UniProt] | Yes | UniProt |
|
rs1924703709 RCV001242689 RCV001810004 |
459 | H>missing | Schwannomatosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002379745 RCV001193025 RCV002560160 rs982153864 |
460 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569156890 CA410775100 RCV000754924 |
461 | A>D | Noonan syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003163053 CA10118867 RCV000754925 rs147684991 RCV001237988 |
462 | I>T | Hereditary cancer-predisposing syndrome Noonan syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001320695 CA10118866 RCV002384412 rs751597202 |
462 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753757778 VAR_081315 CA10118869 |
465 | A>E | SWNTS2; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs753757778 CA10118870 RCV000762050 RCV002388385 |
465 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_071148 RCV000087296 rs587777180 RCV001312780 RCV002390252 RCV001260384 RCV001813376 CA150704 |
466 | R>Q | Schwannomatosis 2 Noonan syndrome and Noonan-related syndrome Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 9.558e-05 impact. Schwannomatosis SWNTS2; increased Ras signaling; decreased interaction with CUL3; impaired subcellular location; impaired subcellular location [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000355063 RCV001797700 RCV002392792 rs550922200 CA10118872 |
466 | R>W | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs374741798 RCV002390863 CA10118873 RCV001813567 RCV000884108 |
468 | R>C | Noonan syndrome and Noonan-related syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10118876 RCV000754922 RCV001855427 rs777243508 |
469 | W>* | Noonan syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002391060 RCV000997876 rs1366650212 CA410775219 |
471 | R>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000997877 rs752547717 CA10118888 RCV002391061 |
483 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10118918 rs779080464 RCV001340474 RCV002395741 |
498 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10118924 RCV002395712 RCV002242276 RCV001324216 rs770974858 |
505 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10118926 RCV001269181 rs763950976 RCV002537711 RCV002393680 |
506 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001664796 CA10118930 RCV002393683 RCV001280664 rs200062851 |
511 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs779673877 CA10118934 RCV002400171 RCV000997878 |
514 | R>W | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs565364639 RCV002402878 CA10118940 RCV001313523 |
519 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA410775970 VAR_071149 rs1569157089 RCV000680838 RCV000785625 |
520 | P>L | Schwannomatosis 2 SWNTS2; increased Ras signaling; impaired subcellular location [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1924721014 RCV001196341 |
521 | F>missing | Schwannomatosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002400242 CA410776031 rs1268689557 RCV001040994 |
524 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs768530578 RCV001242116 CA10118945 RCV002402766 |
526 | Q>* | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_081316 | 528 | L>R | SWNTS2; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000985025 CA410776134 rs767374538 |
529 | Y>H | Noonan syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000522570 rs769150226 RCV002395254 CA10118954 RCV001644623 |
537 | R>Q | Schwannomatosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_081317 | 539 | G>C | SWNTS2; unknown pathological significance; somatic mutation [UniProt] | Yes | UniProt |
|
rs1232362523 RCV002402813 RCV001293512 RCV001863176 CA410776288 |
539 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001345621 CA410776461 rs141610191 RCV002404810 |
540 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA322269683 RCV000519911 RCV002404350 rs1009167232 |
541 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001338053 CA410776704 RCV002402930 rs1349551741 |
553 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_081318 | 554 | A>P | NS10; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV002402927 RCV001337880 rs754093586 CA10119020 |
560 | C>R | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1374240053 CA410777780 VAR_081319 |
563 | E>Q | NS2; unknown pathological significance; no effect on RAS-MAPK signaling; strongly decreased stability [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
RCV002291738 RCV002466649 rs372417941 RCV001243402 RCV001290606 CA10119025 RCV002402775 |
567 | R>H | Noonan syndrome 10 Schwannomatosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002406524 rs372417941 CA10119024 RCV000681321 |
567 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA322269758 rs954974816 RCV001238641 RCV002402752 |
570 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10119038 RCV002399962 rs139368531 RCV000876038 RCV001290562 |
575 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000522879 RCV001731746 RCV002466528 rs1460026299 RCV002404345 |
578 | N>missing | Schwannomatosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs765416902 RCV002402566 RCV001227885 RCV001201246 CA10119040 |
579 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV000677201 rs1555928697 CA410778181 |
580 | L>P | Noonan syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001861435 CA10119045 RCV002411281 RCV000413012 rs369697241 |
584 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV001192874 rs1569157346 |
585 | S>missing | RASopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs982944299 CA322270032 RCV002402575 RCV001202111 |
598 | C>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081320 | 603 | V>del | SWNTS2 [UniProt] | Yes | UniProt |
|
rs373488966 RCV002406527 RCV002287437 CA10119089 RCV000681434 |
619 | R>C | Hydrops fetalis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10119090 VAR_086931 RCV002411569 RCV001060885 rs568213908 |
619 | R>H | Hereditary cancer-predisposing syndrome has not effect on protein abundance; does not affect localization to Golgi apparatus; does not affect function in regulation of RAS-MAPK signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD UniProt |
|
rs757928335 RCV003163029 RCV000658060 CA10119094 |
625 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV002406526 rs781776791 RCV000681423 CA10119098 RCV001797782 RCV001196404 |
630 | R>Q | Schwannomatosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs770312150 RCV000681112 RCV002406522 CA10119100 |
634 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs148677674 RCV000499922 CA10119101 RCV002413371 RCV001454598 RCV001584206 |
635 | P>L | Noonan syndrome 10 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002409330 CA410778712 RCV000997879 RCV001535487 rs1213535694 |
638 | R>C | Schwannomatosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001201244 RCV002561079 rs1190268151 RCV002411735 CA410778763 |
645 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001193626 rs148916790 RCV001773446 CA10119107 VAR_075663 RCV002411728 |
647 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_081321 | 654 | D>G | SWNTS2; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV002420762 RCV001350836 rs199696566 |
655 | M>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002418661 RCV001201226 rs199696566 RCV001863146 CA10119175 |
655 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10119182 rs151000791 RCV001314421 RCV002418948 RCV002265981 |
660 | E>K | Noonan syndrome 10 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001851476 CA10119184 RCV000523227 RCV002420304 rs750582696 |
661 | G>E | Noonan syndrome 10 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002416124 rs200248773 RCV000908565 CA10119185 RCV003155330 |
662 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs140874089 CA10119190 RCV000731646 RCV002422629 |
664 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs776112712 RCV002418971 CA10119192 RCV001323570 |
664 | 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 |
|
CA10119195 VAR_081322 RCV002422461 rs776005012 RCV000680839 |
668 | D>Y | Hereditary cancer-predisposing syndrome SWNTS2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001247347 CA10119202 RCV002418852 rs756293448 RCV001813582 |
676 | H>N | Noonan syndrome and Noonan-related syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1924819890 RCV001039184 RCV002416338 |
680 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001292656 rs766706053 |
681 | H>R | Schwannomatosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758472207 RCV001250477 CA10119206 RCV002420310 RCV000520720 |
682 | K>E | Hereditary cancer-predisposing syndrome Noonan syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_071150 RCV002415585 RCV001055087 rs587777178 RCV000087294 CA150702 |
688 | R>C | Schwannomatosis 2 Hereditary cancer-predisposing syndrome SWNTS2; increased Ras signaling; decreased interaction with CUL3; impaired subcellular location [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_081323 | 688 | R>G | NS2; unknown pathological significance [UniProt] | Yes | UniProt |
|
rs535779363 RCV002422674 CA10119211 RCV000788505 |
688 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA410779166 rs1555928965 RCV002420555 RCV000585281 |
689 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_081324 CA501021 rs370638947 |
697 | R>Q | Variant assessed as Somatic; 0.0 impact. NS2 [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10119241 rs751516987 VAR_081325 |
697 | R>W | SWNTS2; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA322271245 RCV002422446 rs760064852 RCV000735828 |
698 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA410779312 rs1327579827 VAR_081326 |
701 | P>H | NS2 [UniProt] | Yes |
ClinGen UniProt TOPMed dbSNP |
|
RCV001880083 RCV002418868 RCV001264608 rs1409419929 |
712 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10119262 RCV002528276 rs766095536 RCV000519175 |
724 | L>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs778626874 RCV001813590 RCV002431943 CA10119265 RCV001337007 |
725 | R>C | Noonan syndrome 10 Noonan syndrome and Noonan-related syndrome Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1034395178 RCV000625963 RCV003162767 RCV002533148 CA410779953 |
726 | Y>* | Hereditary cancer-predisposing syndrome Noonan syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_081327 | 726 | Y>del | NS2; decreased ubiquitination of Ras [UniProt] | Yes | UniProt |
|
rs1924863769 RCV001069784 RCV002429739 RCV001266916 |
743 | F>missing | Hereditary cancer-predisposing syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001861736 RCV002424569 rs755260815 RCV000754923 CA10119315 |
749 | Y>C | Hereditary cancer-predisposing syndrome Noonan syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1601723615 RCV000859983 CA410780776 |
749 | Y>H | Noonan syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001313046 CA10119321 rs745755957 RCV002447326 |
754 | N>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000735433 RCV002442561 RCV002535430 VAR_081328 CA10119324 rs762834512 |
755 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Noonan syndrome 2 NS2; unknown pathological significance [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001341224 RCV002447036 rs141161152 CA10119322 RCV002291731 RCV001193026 |
755 | R>W | Noonan syndrome 10 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.621e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002445414 VAR_081329 CA410780845 rs1419388177 RCV001174815 |
760 | C>R | Hereditary cancer-predisposing syndrome SWNTS2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
| VAR_081330 | 762 | Q>del | SWNTS2 [UniProt] | Yes | UniProt |
|
RCV001051740 RCV002445273 rs1924869044 |
767 | N>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003164733 rs1231204217 RCV002469829 |
769 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002445152 RCV000997881 CA10119337 rs752880731 |
770 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001871623 RCV002447250 rs199586863 RCV001280937 CA10119341 |
773 | V>M | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001379853 rs587777179 RCV002444559 RCV000087295 |
783 | T>missing | Schwannomatosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767637944 RCV002447345 RCV002287495 RCV001317211 CA10119377 |
790 | R>W | Stroke Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.641e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001507320 rs141672122 RCV000481440 CA10119384 RCV002455940 |
796 | I>T | Hereditary cancer-predisposing syndrome Noonan syndrome 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002447376 rs1041569569 CA322274138 RCV001326806 |
808 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_081331 CA10119459 RCV001320703 RCV002271641 RCV002447356 rs776893978 |
810 | R>W | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome GLM; increased Ras signaling [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10119465 VAR_081332 rs773059569 |
812 | L>P | SWNTS2; decreased interaction with CUL3; impaired subcellular location; decreased ubiquitination of Ras [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_071151 | 813 | S>I | SWNTS2; increased Ras signaling [UniProt] | Yes | UniProt |
|
rs1311281590 RCV001294017 CA410781591 RCV001863178 |
813 | S>R | Noonan syndrome 10 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000787273 CA410781711 VAR_081333 RCV003133592 rs1275511136 |
821 | I>T | Noonan syndrome 2 NS2; unknown pathological significance; no effect on RAS-MAPK signaling; decreased localization to Golgi apparatus; no effect on stability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV003166078 rs781251567 RCV000788726 |
822 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785626 CA10119474 RCV001449824 rs752239353 RCV002535729 RCV002458404 |
824 | L>P | Schwannomatosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs965447702 RCV002430110 RCV001304169 |
828 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1924904363 RCV001337009 |
837 | G>S | Noonan syndrome 10 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA410777402 rs1569152759 |
3 | G>A | No |
ClinGen Ensembl |
|
|
rs1256519212 CA410777416 |
5 | G>D | No |
ClinGen gnomAD |
|
|
rs1188447885 CA410777412 |
5 | G>S | No |
ClinGen gnomAD |
|
|
RCV001175427 rs1369717076 |
6 | S>missing | No |
ClinVar dbSNP |
|
|
CA410777427 rs1169396415 |
6 | S>N | No |
ClinGen TOPMed |
|
|
CA410777450 CA10118267 rs575193991 |
8 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756485244 CA501016 |
9 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756485244 CA10118270 |
9 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1048340679 CA322316082 |
9 | G>W | No |
ClinGen Ensembl |
|
|
CA410777467 rs1436794246 |
10 | Q>* | No |
ClinGen gnomAD |
|
| rs587777613 | 10 | Q>A | Variant assessed as Somatic; 6.523e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs587777613 | 10 | Q>R | Variant assessed as Somatic; 6.523e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 13 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1294976647 CA410777499 |
13 | A>P | No |
ClinGen TOPMed |
|
|
rs1294976647 CA410777497 |
13 | A>T | No |
ClinGen TOPMed |
|
|
rs1308380413 CA410777517 |
15 | A>T | No |
ClinGen TOPMed |
|
|
CA410777528 rs578100969 |
16 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1373464938 CA410777527 |
16 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 17 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410777547 rs1211148668 |
18 | G>D | No |
ClinGen gnomAD |
|
|
rs1349667735 CA410777541 |
18 | G>S | No |
ClinGen gnomAD |
|
|
CA10118277 rs368755025 |
19 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375788038 CA322316108 |
19 | G>R | No |
ClinGen ESP gnomAD |
|
|
rs375788038 CA322316113 |
19 | G>S | No |
ClinGen ESP gnomAD |
|
|
rs1469540056 CA410777574 |
21 | R>L | No |
ClinGen gnomAD |
|
|
RCV000736157 rs1469540056 CA410777573 |
21 | R>P | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1178165010 CA410777586 |
23 | K>E | No |
ClinGen gnomAD |
|
|
rs1378537249 CA410777595 |
24 | V>I | No |
ClinGen gnomAD |
|
|
rs780281625 CA322316141 |
25 | A>S | No |
ClinGen gnomAD |
|
|
rs776383010 CA410777625 |
27 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs776383010 CA410777626 |
27 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs776383010 CA10118280 |
27 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 30 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410777665 rs1331254483 |
31 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA410777682 rs1355678924 |
32 | H>Y | No |
ClinGen gnomAD |
|
|
rs769390243 CA10118282 |
33 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs775067152 CA322316155 TCGA novel |
35 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs775067152 CA10118283 |
35 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 35 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10118284 rs762434811 |
39 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA322316179 rs146436209 |
40 | Y>H | No |
ClinGen ESP TOPMed |
|
|
rs966824142 CA322316183 |
44 | N>H | No |
ClinGen Ensembl |
|
|
rs1273423585 CA410777882 |
46 | G>R | No |
ClinGen gnomAD |
|
|
CA410777905 rs1445710752 |
47 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10118286 rs774765005 |
48 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1469836617 CA410777930 |
49 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV000627644 rs1194536394 |
51 | V>missing | No |
ClinVar dbSNP |
|
|
rs768024666 CA10118288 |
52 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1329142115 CA410778003 |
53 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA410778019 rs1323078491 |
54 | W>* | No |
ClinGen TOPMed |
|
|
rs1170063499 CA410778017 |
54 | W>R | No |
ClinGen gnomAD |
|
|
rs1387587717 CA410778038 |
55 | R>Q | No |
ClinGen TOPMed |
|
|
CA10118289 rs750767136 |
56 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1601713960 CA410778066 |
57 | L>P | No |
ClinGen Ensembl |
|
|
rs756416071 CA10118290 |
58 | P>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000494243 CA410778078 rs756416071 |
58 | P>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA410778118 rs766446110 |
60 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 60 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1440957863 CA410778135 |
61 | D>E | No |
ClinGen gnomAD |
|
|
rs1924234322 RCV001035956 |
62 | E>K | No |
ClinVar dbSNP |
|
| TCGA novel | 65 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410778171 rs1329048243 |
65 | G>S | No |
ClinGen gnomAD |
|
|
CA410778189 rs1432449293 |
66 | A>V | No |
ClinGen gnomAD |
|
|
rs1338433423 CA410778198 |
67 | R>P | No |
ClinGen gnomAD |
|
|
rs886041418 CA322316655 |
68 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA410778247 rs1366219004 |
68 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1438837277 CA410778276 |
71 | H>D | No |
ClinGen gnomAD |
|
|
CA410778282 rs1359555609 |
71 | H>L | No |
ClinGen gnomAD |
|
|
CA10118313 rs757203744 |
73 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10118314 rs200965586 |
76 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410778357 rs1569153015 |
79 | A>T | No |
ClinGen Ensembl |
|
|
CA10118316 rs755907531 |
80 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA10118318 CA410778384 rs748923374 |
81 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10118317 rs779864268 |
81 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs779864268 CA410778382 |
81 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1419397385 CA410778375 |
81 | Y>N | No |
ClinGen TOPMed |
|
|
CA10118322 rs771706016 |
84 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA10118321 rs774010552 |
84 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs774010552 CA10118320 |
84 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10118323 rs773915351 |
85 | G>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 86 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 87 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs971970608 CA322316703 |
87 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA410778434 rs1051725799 |
88 | G>E | No |
ClinGen TOPMed |
|
|
rs1051725799 CA322316706 |
88 | G>V | No |
ClinGen TOPMed |
|
|
CA10118345 rs759881378 |
90 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1426562447 CA410778788 |
90 | T>I | No |
ClinGen TOPMed |
|
|
rs1201955385 CA410778811 |
93 | N>H | No |
ClinGen TOPMed |
|
|
rs777971919 CA322321180 |
93 | N>I | No |
ClinGen Ensembl |
|
| TCGA novel | 94 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10118346 rs770038802 |
94 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 96 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410778839 rs1327974340 |
97 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763127267 CA10118348 |
97 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA322321251 rs1050873078 |
99 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1299646110 CA410778872 |
102 | D>Y | No |
ClinGen gnomAD |
|
|
CA410778885 rs1261951611 |
103 | C>* | No |
ClinGen TOPMed |
|
|
rs1311529652 CA410778899 |
105 | W>* | No |
ClinGen TOPMed |
|
|
CA410778896 rs1257932527 |
105 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
RCV000523296 CA410778910 rs1555927330 |
107 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA410778913 rs1301901369 |
107 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA410779248 rs1285251731 |
110 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1377855691 CA410779269 |
113 | T>A | No |
ClinGen gnomAD |
|
|
rs1569154446 CA410779274 |
113 | T>S | No |
ClinGen Ensembl |
|
|
rs1370668324 CA410779288 |
115 | P>A | No |
ClinGen TOPMed |
|
|
rs1215353050 CA410779302 |
116 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA410779299 rs1354048052 |
116 | A>S | No |
ClinGen gnomAD |
|
|
CA410779303 rs1215353050 |
116 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
RCV000598882 rs1555927544 |
117 | P>missing | No |
ClinVar dbSNP |
|
|
CA322322763 rs752076438 |
117 | P>L | No |
ClinGen Ensembl |
|
|
CA410779316 rs749587390 |
118 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10118386 rs749587390 |
118 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 118 | R>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1482222775 CA410779327 |
119 | Y>* | No |
ClinGen gnomAD |
|
|
CA410779334 rs1555927548 RCV000585630 |
120 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs748297645 CA10118389 |
122 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs759568976 CA10118393 |
124 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759568976 CA322322807 |
124 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10118396 rs775434314 |
125 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299386127 CA410779382 |
125 | V>A | No |
ClinGen gnomAD |
|
|
rs775434314 CA10118395 |
125 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316669856 CA410779390 |
126 | Y>C | No |
ClinGen TOPMed |
|
|
CA10118398 rs751261684 |
127 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA10118399 rs756817158 |
128 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200390894 CA10118400 |
129 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368158143 CA410779427 |
129 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410779448 rs1569154517 |
131 | F>S | No |
ClinGen Ensembl |
|
|
CA10118402 rs756615982 |
132 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA410779456 rs1569154518 |
132 | V>L | No |
ClinGen Ensembl |
|
|
rs1005810726 CA322322872 |
133 | F>L | No |
ClinGen TOPMed |
|
|
rs1440693988 CA410779483 |
134 | G>R | No |
ClinGen gnomAD |
|
|
rs1440693988 CA410779482 |
134 | G>W | No |
ClinGen gnomAD |
|
|
rs771188787 CA10118432 |
135 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1425031926 CA410779584 |
135 | G>D | No |
ClinGen gnomAD |
|
|
CA410779611 rs1465551209 |
137 | T>A | No |
ClinGen gnomAD |
|
|
CA10118434 rs146627447 |
137 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA322323417 rs867902139 |
138 | G>R | No |
ClinGen gnomAD |
|
|
rs1601717318 CA410779670 |
140 | I>V | No |
ClinGen Ensembl |
|
|
CA10118437 rs141357465 |
141 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10118438 rs761578600 |
143 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs771885420 CA10118439 |
144 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA410779734 rs771885420 RCV000522881 |
144 | S>Y | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 145 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000658482 CA410779756 rs1555927611 |
146 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| rs1278587866 | 147 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000523790 rs1555927613 |
147 | K>missing | No |
ClinVar dbSNP |
|
|
CA410779811 rs1216720527 |
151 | D>Y | No |
ClinGen gnomAD |
|
|
CA10118442 rs376500345 |
152 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410779829 rs1210692102 |
154 | E>K | No |
ClinGen gnomAD |
|
|
rs753295968 CA410779843 CA10118443 |
155 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765597291 CA10118445 |
156 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410779888 rs1458120855 |
162 | W>* | No |
ClinGen TOPMed |
|
|
rs1278639893 CA410779886 |
162 | W>R | No |
ClinGen gnomAD |
|
|
rs993380676 CA322323519 |
163 | T>A | No |
ClinGen gnomAD |
|
|
TCGA novel CA410779915 rs1192054933 |
165 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
|
CA410779914 rs1601717367 |
165 | W>G | No |
ClinGen Ensembl |
|
|
CA10118448 rs778265576 |
167 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs887657116 CA322323546 |
167 | I>N | No |
ClinGen Ensembl |
|
|
CA10118449 rs751873839 |
169 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868220792 CA322324146 |
171 | L>W | No |
ClinGen Ensembl |
|
|
rs770709361 CA10118476 |
172 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA10118477 rs776327053 |
174 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs776327053 CA410780094 |
174 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 175 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001201225 rs1924495083 |
175 | R>M | No |
ClinVar dbSNP |
|
| TCGA novel | 176 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA322324175 rs953240645 |
177 | A>D | No |
ClinGen TOPMed |
|
|
rs775028367 CA10118481 |
178 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10118483 rs764624388 |
180 | A>T | No |
ClinGen ExAC |
|
|
rs1404043176 CA410780133 |
180 | A>V | No |
ClinGen gnomAD |
|
|
CA410780137 rs1569154947 |
181 | T>A | No |
ClinGen Ensembl |
|
|
RCV001009092 rs1601717797 |
182 | V>missing | No |
ClinVar dbSNP |
|
|
rs538624569 CA410780150 |
183 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs538624569 CA10118487 |
183 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1376517094 CA410780154 RCV001238803 |
184 | S>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA10118488 rs140521929 |
186 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410780179 rs1303870701 |
187 | L>P | No |
ClinGen gnomAD |
|
|
CA10118489 rs376049897 |
189 | I>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777756228 CA10118494 |
195 | G>A | No |
ClinGen ExAC |
|
|
RCV000681071 rs777756228 RCV001584550 CA410780234 |
195 | G>D | No |
ClinGen ClinVar ExAC dbSNP |
|
|
CA10118493 rs758338373 |
195 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410780267 rs1193374192 |
198 | R>S | No |
ClinGen TOPMed |
|
|
rs1555927827 CA410780274 RCV000658481 |
199 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1360454424 CA410780272 |
199 | L>S | No |
ClinGen gnomAD |
|
|
CA10118521 rs768321121 |
202 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778525532 CA10118522 |
203 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA322324968 rs1046322896 |
205 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA410780323 rs1488468848 |
206 | G>D | No |
ClinGen gnomAD |
|
|
CA410780335 rs772573741 |
208 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA10118524 rs772573741 |
208 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA10118526 rs150419186 |
210 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10118527 rs771188127 |
210 | R>Q | Variant assessed as Somatic; 4.771e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10118528 rs776963332 |
212 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs138301732 CA10118529 |
212 | L>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs574558023 CA410780364 |
213 | T>I | No |
ClinGen gnomAD |
|
|
rs574558023 CA322325043 |
213 | T>N | No |
ClinGen gnomAD |
|
|
CA410780367 rs1292721559 |
214 | C>R | No |
ClinGen TOPMed |
|
|
CA10118532 rs761739228 |
216 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761739228 CA10118533 |
216 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755984510 CA10118535 |
217 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770126689 CA10118582 |
218 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10118583 rs775735290 |
219 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA410780441 rs1326397951 |
223 | E>G | No |
ClinGen gnomAD |
|
|
CA10118588 rs760674583 |
224 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410780475 rs1343634751 |
228 | C>* | No |
ClinGen gnomAD |
|
|
CA10603560 rs886041925 RCV000361017 |
229 | C>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs752439876 RCV001195612 |
230 | N>T | No |
ClinVar dbSNP |
|
|
CA10118597 rs535425465 |
233 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410780521 rs1413588941 |
235 | V>A | No |
ClinGen gnomAD |
|
|
rs1271199870 CA410780516 |
235 | V>M | No |
ClinGen gnomAD |
|
|
rs1453525517 CA410780524 |
236 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA410780522 rs1453525517 RCV000521227 |
236 | C>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA10118600 rs750904684 |
238 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410780554 rs1466927211 |
240 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA410780562 rs1423756155 |
241 | F>C | No |
ClinGen gnomAD |
|
|
CA10118602 rs780354295 |
242 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1555927942 CA410780575 RCV000595620 |
243 | F>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs768702304 CA10118604 |
246 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA16043174 rs1057518336 RCV000413376 |
246 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs748242691 CA10118606 |
254 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1226855460 CA410780662 |
256 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1358738000 CA410780676 |
258 | F>S | No |
ClinGen gnomAD |
|
|
CA410780695 rs1272024102 |
260 | F>L | No |
ClinGen gnomAD |
|
|
rs772266158 CA10118609 |
262 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772266158 CA410780704 |
262 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001174991 rs1924566447 |
262 | D>QDVCILWAKRSQNNQQPLPV* | No |
ClinVar dbSNP |
|
|
CA410780714 rs144573377 |
263 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775102121 CA10118613 |
264 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237574376 CA410781072 |
265 | W>* | No |
ClinGen gnomAD |
|
|
rs546713633 CA10118640 |
265 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs546713633 CA322327206 |
265 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1258318307 CA410781083 |
266 | T>R | No |
ClinGen gnomAD |
|
|
CA322327216 rs979730916 |
267 | R>C | No |
ClinGen TOPMed |
|
|
rs754364555 CA10118641 |
267 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755336991 CA10118642 |
269 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA410781106 rs1202494761 |
269 | P>S | No |
ClinGen gnomAD |
|
|
rs1249609723 CA410781145 |
273 | L>M | No |
ClinGen gnomAD |
|
|
rs1417117052 CA410781149 |
273 | L>P | No |
ClinGen gnomAD |
|
|
rs1200675291 CA410781153 |
274 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA10118646 rs778001313 |
275 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10118647 rs373707826 |
279 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs943782292 CA322327278 |
279 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs943782292 CA410781195 |
279 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV000762049 rs1419091884 |
281 | P>missing | No |
ClinVar dbSNP |
|
| rs1419091884 | 281 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410781217 rs1395990299 |
281 | P>S | No |
ClinGen gnomAD |
|
|
rs1346699262 CA410781237 |
283 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA658799495 RCV000599130 rs1555928163 |
284 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001340872 rs1924612271 |
287 | H>R | No |
ClinVar dbSNP |
|
|
rs1211421832 CA410781313 |
291 | A>T | No |
ClinGen gnomAD |
|
|
CA410781318 rs1267787064 |
291 | A>V | No |
ClinGen gnomAD |
|
|
rs771655758 CA10118654 |
294 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA410781340 rs1427336886 |
295 | H>N | No |
ClinGen gnomAD |
|
|
CA410781342 rs1427336886 |
295 | H>Y | No |
ClinGen gnomAD |
|
|
CA410781360 rs145955180 |
297 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA410781357 rs1478860986 |
297 | Y>S | No |
ClinGen gnomAD |
|
|
rs1569156022 CA410781378 |
300 | G>W | No |
ClinGen Ensembl |
|
|
CA322327389 rs139823732 |
301 | G>D | No |
ClinGen ESP gnomAD |
|
|
rs1372731834 CA410781382 |
301 | G>S | No |
ClinGen gnomAD |
|
|
CA410781387 rs1295719843 |
302 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 303 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410781398 rs1342883674 |
304 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 305 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214662056 CA410781417 |
306 | T>M | No |
ClinGen gnomAD |
|
|
RCV001174982 rs1924610101 |
308 | P>missing | No |
ClinVar dbSNP |
|
|
rs764464803 CA10118666 |
308 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1192715554 CA410781443 |
310 | E>K | No |
ClinGen gnomAD |
|
|
CA410781464 rs1219925735 |
312 | H>N | No |
ClinGen gnomAD |
|
|
rs1488541459 CA410781481 |
313 | C>F | No |
ClinGen gnomAD |
|
| TCGA novel | 313 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265272984 CA410781477 |
313 | C>S | No |
ClinGen gnomAD |
|
|
rs1275819480 CA410781486 |
313 | C>W | No |
ClinGen TOPMed |
|
|
rs1187187385 CA410781493 |
314 | Y>C | No |
ClinGen gnomAD |
|
|
CA10118669 rs370315661 |
316 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410781521 rs1601719543 |
317 | D>H | No |
ClinGen Ensembl |
|
|
rs1014327605 CA322327434 |
319 | Q>H | No |
ClinGen gnomAD |
|
|
rs1161999355 CA410781556 |
320 | T>A | No |
ClinGen gnomAD |
|
|
CA410781574 rs1453114200 |
321 | W>C | No |
ClinGen gnomAD |
|
|
CA410781566 rs1363014013 CA410781564 |
321 | W>R | No |
ClinGen gnomAD |
|
|
CA322327443 rs1015399427 |
322 | E>* | No |
ClinGen Ensembl |
|
|
CA10118671 rs140013693 |
324 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000681054 rs1569156085 CA410781616 |
325 | Q>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA410781632 rs1478205181 |
327 | S>N | No |
ClinGen TOPMed |
|
|
rs771851532 CA10118675 |
329 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376331457 CA322327468 |
330 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA410781681 rs1214963910 |
331 | E>D | No |
ClinGen gnomAD |
|
|
rs1317514162 CA410781671 |
331 | E>K | No |
ClinGen gnomAD |
|
|
rs1201984751 CA410781719 |
332 | V>A | No |
ClinGen gnomAD |
|
|
rs978505307 CA322327775 |
333 | G>D | No |
ClinGen Ensembl |
|
|
CA10118693 rs777494767 |
334 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000523792 rs753474547 |
336 | E>missing | No |
ClinVar dbSNP |
|
|
CA10118697 rs780578255 |
339 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs780578255 CA410781777 |
339 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA410781778 rs780578255 |
339 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs149850248 CA10118699 |
340 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1924631866 RCV001240183 |
341 | A>D | No |
ClinVar dbSNP |
|
|
CA410781796 rs1467948078 |
341 | A>P | No |
ClinGen gnomAD |
|
|
rs763509989 CA10118701 |
342 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1224035711 CA410781844 |
345 | E>D | No |
ClinGen gnomAD |
|
|
CA10118704 rs761956867 |
345 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs767839536 CA10118706 |
348 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA410781870 rs1438549586 |
348 | P>L | No |
ClinGen gnomAD |
|
|
rs767839536 CA10118705 |
348 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA410781873 rs1569156242 |
349 | T>A | No |
ClinGen Ensembl |
|
|
rs936980006 CA322327884 |
351 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs368649599 CA10118710 |
352 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 353 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410781923 rs1428031313 |
354 | E>* | No |
ClinGen gnomAD |
|
|
CA410781934 rs371593909 |
355 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA410781940 rs1169088155 |
355 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1169088155 CA410781937 |
355 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA322327888 rs371593909 |
355 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs777546040 CA10118712 |
356 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA322327892 rs917455578 |
356 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1265269028 CA410781977 |
359 | K>R | No |
ClinGen TOPMed |
|
|
rs751308379 CA10118713 |
360 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1326675894 CA410781987 |
360 | K>R | No |
ClinGen gnomAD |
|
|
CA410782026 rs1230338807 |
364 | V>G | No |
ClinGen TOPMed |
|
|
rs755711408 CA10118717 |
364 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10118718 rs45572935 |
367 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1271934002 CA410782065 |
368 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 368 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001236966 rs1924636315 |
369 | F>missing | No |
ClinVar dbSNP |
|
|
rs1371569888 CA410782077 |
370 | G>D | No |
ClinGen gnomAD |
|
|
rs372126023 CA10118721 |
371 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410782084 rs372126023 RCV000493118 |
371 | T>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA322327955 rs1036934148 |
372 | T>I | No |
ClinGen Ensembl |
|
|
rs1601719943 CA410782085 |
372 | T>P | No |
ClinGen Ensembl |
|
|
CA10118722 rs748615432 |
375 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA410782110 rs772293748 |
376 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10118723 rs772293748 |
376 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA410782118 rs1223628431 |
377 | P>S | No |
ClinGen gnomAD |
|
|
CA410782116 rs1223628431 |
377 | P>T | No |
ClinGen gnomAD |
|
|
rs773533768 CA10118724 |
378 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs766476590 CA10118726 |
379 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376279414 CA410782133 |
379 | Q>H | No |
ClinGen Ensembl |
|
|
rs776623882 CA10118727 |
380 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA410782139 rs1224523480 |
381 | A>T | No |
ClinGen gnomAD |
|
|
rs762889850 CA10118728 |
382 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs757111052 CA410782155 CA322328043 |
383 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322267913 rs755204038 |
388 | R>W | No |
ClinGen Ensembl |
|
|
rs1314854801 CA410773665 |
389 | L>P | No |
ClinGen gnomAD |
|
|
RCV001341046 rs1924653033 |
390 | F>L | No |
ClinVar dbSNP |
|
|
RCV001313364 rs1924653127 |
390 | F>S | No |
ClinVar dbSNP |
|
|
CA410773714 rs1280670708 |
392 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA410773782 rs1202611619 |
396 | I>T | No |
ClinGen gnomAD |
|
|
CA410773802 rs1241079044 |
397 | S>* | No |
ClinGen gnomAD |
|
|
CA410773800 rs1241079044 |
397 | S>L | No |
ClinGen gnomAD |
|
|
CA10118760 rs557960320 |
398 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10118761 rs778238285 |
399 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410773860 rs1157115127 |
400 | M>I | No |
ClinGen gnomAD |
|
|
rs1468533120 CA410773850 |
400 | M>T | No |
ClinGen gnomAD |
|
|
CA410773884 rs1431518018 |
402 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 402 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410773931 rs1336357887 |
404 | G>E | No |
ClinGen gnomAD |
|
|
rs748190695 CA322267987 |
405 | G>D | No |
ClinGen Ensembl |
|
|
rs375451574 CA10118764 |
406 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs758764652 CA10118765 |
407 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA410773952 rs1237504479 |
407 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs935736801 CA322267992 |
412 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs771277433 CA10118767 |
413 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA410774082 rs1436064204 |
415 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1201467181 CA410774087 |
415 | E>G | No |
ClinGen gnomAD |
|
|
rs1436064204 CA410774078 |
415 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1307964821 CA410774103 |
416 | M>R | No |
ClinGen TOPMed |
|
|
RCV000420879 rs1057524046 CA16608588 |
417 | Y>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10118769 rs781430795 |
418 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA410774186 rs1168913250 |
420 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10118771 rs769935670 |
420 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA10118797 rs764853704 |
423 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315527386 CA638942775 |
424 | Y>* | No |
ClinGen gnomAD |
|
|
rs1601720789 CA410774302 |
424 | Y>S | No |
ClinGen Ensembl |
|
|
rs1194561931 CA410774322 |
425 | P>L | No |
ClinGen gnomAD |
|
|
rs763635412 CA10118800 |
426 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA322268616 rs1038727557 |
427 | C>* | No |
ClinGen Ensembl |
|
|
CA10118801 rs752079496 |
427 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA410774348 rs1317381003 |
427 | C>R | No |
ClinGen gnomAD |
|
|
RCV001321728 rs1924685710 |
429 | L>P | No |
ClinVar dbSNP |
|
|
CA10118802 rs757718800 |
430 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs767885456 CA10118803 |
430 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756500067 CA10118805 |
431 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410774448 rs1182184417 |
433 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA410774464 rs1410807728 |
434 | G>E | No |
ClinGen gnomAD |
|
|
CA10118807 rs749506086 |
434 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA10118808 rs749506086 |
434 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA410774474 rs1157807812 |
435 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA410774503 rs746949078 |
437 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10118810 rs746949078 |
437 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1337017523 CA410774527 |
438 | E>D | No |
ClinGen gnomAD |
|
|
rs1404832451 CA410774543 |
439 | S>N | No |
ClinGen gnomAD |
|
|
rs776696572 CA10118812 |
440 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776696572 CA410774553 |
440 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764415634 CA10118813 |
440 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV000493561 rs1131691862 |
442 | F>missing | No |
ClinVar dbSNP |
|
|
CA410774609 rs1374050824 |
442 | F>L | No |
ClinGen gnomAD |
|
|
CA10118815 rs775051211 |
444 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410774634 rs1165976665 |
444 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10118818 rs201070853 |
445 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001268082 rs1339837843 |
446 | E>* | No |
ClinVar dbSNP |
|
|
CA410774663 rs1339837843 |
446 | E>K | No |
ClinGen TOPMed |
|
|
rs1312334046 CA410774702 |
447 | F>I | No |
ClinGen gnomAD |
|
|
rs201016956 CA10118819 VAR_075662 |
447 | F>L | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1312334046 RCV001785793 RCV001193029 |
447 | F>V | No |
ClinVar dbSNP |
|
|
rs750902731 CA10118821 |
448 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410774760 rs1337420891 |
449 | L>R | No |
ClinGen TOPMed |
|
|
RCV001205484 rs1924689346 |
449 | L>V | No |
ClinVar dbSNP |
|
|
CA410774774 rs756486259 |
450 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10118822 rs756486259 |
450 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs766718505 CA410774783 |
451 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1182046872 CA410774789 |
451 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10118825 rs747701179 |
451 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs766718505 CA10118823 |
451 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10118824 rs747701179 |
451 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA410774969 rs1242347607 |
453 | E>K | No |
ClinGen gnomAD |
|
|
rs771525633 CA10118859 |
454 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1386837360 CA410775018 |
455 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA410775016 rs1459157248 |
455 | C>F | No |
ClinGen TOPMed |
|
|
CA410775009 rs1186506668 |
455 | C>R | No |
ClinGen gnomAD |
|
|
rs565109294 CA10118861 |
456 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10118860 rs565109294 |
456 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1601721049 CA410775040 |
457 | Q>R | No |
ClinGen Ensembl |
|
|
rs1303528589 CA410775058 |
458 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1303528589 CA410775056 |
458 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA410775077 rs752985853 |
459 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765674223 CA10118862 |
459 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1162619671 CA410775062 |
459 | H>Y | No |
ClinGen gnomAD |
|
|
rs982153864 CA322268886 |
460 | V>G | No |
ClinGen Ensembl |
|
|
CA10118864 rs763222950 |
460 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763222950 CA410775083 |
460 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA410775097 rs1434627307 |
461 | A>T | No |
ClinGen gnomAD |
|
|
CA322268889 rs147684991 |
462 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1193106828 CA410775123 |
463 | V>D | No |
ClinGen TOPMed |
|
|
CA410775121 rs1269398431 |
463 | V>I | No |
ClinGen TOPMed |
|
|
CA322268895 rs950620957 |
464 | T>I | No |
ClinGen gnomAD |
|
|
CA410775172 rs1464199103 |
467 | S>I | No |
ClinGen gnomAD |
|
|
CA410775169 rs1464199103 |
467 | S>N | No |
ClinGen gnomAD |
|
|
CA410775171 rs1464199103 |
467 | S>T | No |
ClinGen gnomAD |
|
|
rs146427018 CA10118874 |
468 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs146427018 CA10118875 |
468 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410775213 rs1186505944 |
470 | L>R | No |
ClinGen gnomAD |
|
|
CA10118877 rs139031749 |
471 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139031749 CA410775222 |
471 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410775232 rs1160425168 |
472 | R>K | No |
ClinGen gnomAD |
|
|
CA410775262 rs1393147910 |
474 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs376046310 CA10118879 |
475 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10118881 rs764446835 |
476 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10118882 rs774408200 |
476 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs762005490 CA10118883 |
477 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322268938 rs762005490 |
477 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs138036477 CA10118887 |
478 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138036477 CA10118886 |
478 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150365548 CA10118885 |
478 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000593361 rs1203145822 CA410775383 |
483 | Q>H | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs939791025 CA322268971 |
483 | Q>P | No |
ClinGen Ensembl |
|
|
rs1169545073 CA410775426 |
484 | K>E | No |
ClinGen gnomAD |
|
|
rs1370549934 CA410775430 |
484 | K>T | No |
ClinGen gnomAD |
|
|
CA410775440 rs1569156993 |
485 | L>R | No |
ClinGen Ensembl |
|
|
rs1315849607 CA410775445 |
486 | E>K | No |
ClinGen gnomAD |
|
|
rs758260355 CA10118906 |
487 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410775480 rs1385691888 |
488 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1327762745 CA410775504 |
489 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1298763231 CA410775499 |
489 | A>S | No |
ClinGen gnomAD |
|
|
CA410775496 rs1298763231 |
489 | A>T | No |
ClinGen gnomAD |
|
|
rs1327762745 CA410775501 |
489 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751255482 CA10118909 |
490 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1329226132 CA410775512 |
490 | A>S | No |
ClinGen TOPMed |
|
|
CA410775507 rs1329226132 |
490 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA322269030 rs1025679501 |
491 | P>T | No |
ClinGen Ensembl |
|
|
rs1224594586 CA410775533 |
492 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA410775565 rs1292361888 |
494 | R>T | No |
ClinGen gnomAD |
|
|
rs1209252927 CA410775573 |
495 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 495 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10118913 rs755657932 |
496 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745425828 CA410775591 |
496 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745425828 CA10118912 |
496 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755657932 CA410775598 |
496 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780759354 CA10118915 |
497 | P>L | No |
ClinGen ExAC |
|
| TCGA novel | 498 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779080464 CA10118919 |
498 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10118921 rs773420178 |
499 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs377075596 CA10118922 |
500 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410775642 rs377075596 |
500 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10118923 rs770974858 |
505 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10118925 rs201773172 |
505 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA322269097 rs983395423 |
507 | P>L | No |
ClinGen gnomAD |
|
|
CA410775712 rs1461135179 |
507 | P>S | No |
ClinGen gnomAD |
|
|
CA410775768 rs1437765817 |
511 | V>G | No |
ClinGen gnomAD |
|
|
rs200062851 CA10118931 |
511 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10118932 rs750080588 |
512 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA322269120 rs866792694 |
512 | A>T | No |
ClinGen Ensembl |
|
|
rs755711196 CA10118933 |
513 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410775818 rs755711196 |
513 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201687217 CA10118935 |
514 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755381916 CA10118936 |
515 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA410775870 RCV000681109 rs1288910632 |
516 | A>P | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs748528782 CA10118938 |
517 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423730863 CA410775934 |
518 | A>D | No |
ClinGen gnomAD |
|
|
rs149502567 CA410775951 |
519 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149502567 CA10118941 |
519 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1393188363 CA410775955 |
520 | P>A | No |
ClinGen TOPMed |
|
|
CA10118943 rs201159165 |
522 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410776021 rs762957611 |
523 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA10118944 rs762957611 |
523 | V>M | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 524 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410776042 rs1198204613 |
524 | L>P | No |
ClinGen TOPMed |
|
|
rs1303204189 CA410776054 |
525 | M>K | No |
ClinGen gnomAD |
|
|
rs1601721402 CA410776079 |
526 | Q>R | No |
ClinGen Ensembl |
|
|
rs774337849 CA10118946 |
527 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761550191 CA10118947 |
527 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs774337849 CA410776095 |
527 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331354829 CA410776120 |
528 | L>F | No |
ClinGen gnomAD |
|
|
CA410776111 rs1331354829 |
528 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10118949 rs371015800 |
529 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410776141 rs1267756541 |
529 | Y>C | No |
ClinGen gnomAD |
|
|
CA10118948 rs767374538 |
529 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
RCV001193621 rs1924717764 |
531 | D>missing | No |
ClinVar dbSNP |
|
|
CA322269262 rs138615487 |
531 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10118951 rs138615487 |
531 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1601721439 CA410776179 |
532 | K>N | No |
ClinGen Ensembl |
|
|
rs753347937 CA10118952 |
535 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754507552 CA10118953 |
537 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472642577 CA410776269 |
538 | K>* | No |
ClinGen gnomAD |
|
|
CA10119006 rs746896119 |
539 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs745516367 CA322269695 |
542 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 542 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745516367 CA10119009 |
542 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769539981 CA10119010 |
544 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA10119012 rs762489564 |
547 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10119014 rs146195984 |
548 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10119013 rs768130687 |
548 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs762315626 CA10119015 |
549 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762315626 CA410776625 |
549 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354044140 CA410776634 |
550 | V>M | No |
ClinGen gnomAD |
|
|
CA410776665 rs1411200130 |
551 | Y>* | No |
ClinGen gnomAD |
|
|
CA322269711 rs1011857682 |
552 | K>R | No |
ClinGen TOPMed |
|
|
rs1349551741 CA410776706 |
553 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA410776718 rs745597950 |
554 | A>E | No |
ClinGen gnomAD |
|
|
rs750858302 CA10119017 |
554 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA322269715 rs745597950 |
554 | A>V | No |
ClinGen gnomAD |
|
|
rs956463805 CA322269718 |
555 | L>V | No |
ClinGen Ensembl |
|
|
CA410776740 rs1199603159 |
556 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1276419953 CA410776746 |
556 | S>N | No |
ClinGen gnomAD |
|
|
CA322269721 rs989098259 |
556 | S>R | No |
ClinGen Ensembl |
|
|
CA410776760 rs1207454395 |
558 | Q>* | No |
ClinGen gnomAD |
|
|
rs766667772 CA10119019 |
558 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261832837 CA410777717 |
560 | C>Y | No |
ClinGen TOPMed |
|
|
CA10119021 rs755134685 |
561 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970027059 CA322269732 |
561 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA410777745 rs970027059 |
561 | R>L | No |
ClinGen TOPMed |
|
|
rs1374240053 CA410777782 |
563 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1374240053 CA410777777 |
563 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA410777824 rs1308149313 |
564 | Q>H | No |
ClinGen gnomAD |
|
|
rs1389123610 CA410777865 |
566 | C>* | No |
ClinGen gnomAD |
|
| TCGA novel | 566 | C>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10119023 rs751544570 |
566 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207295390 CA410777879 |
567 | R>C | No |
ClinGen gnomAD |
|
|
CA410777945 rs745741890 |
569 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs954974816 CA410777959 |
570 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs769444348 CA10119028 |
570 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1273765011 CA410777994 |
571 | E>D | No |
ClinGen gnomAD |
|
|
CA10119030 rs5761750 |
571 | E>K | Variant assessed as Somatic; 0.0007092 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10119031 rs768161325 |
572 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410778037 rs1269824662 |
573 | S>P | No |
ClinGen gnomAD |
|
|
CA10119037 rs540861183 |
574 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs540861183 CA10119036 |
574 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA322269782 rs540861183 |
574 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772702683 CA10119034 |
574 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs772702683 CA10119035 |
574 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1417884903 CA410778103 |
576 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA410778106 rs1417884903 |
576 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1390034681 CA410778113 |
577 | Q>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 577 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410778194 rs1391071569 |
581 | V>A | No |
ClinGen gnomAD |
|
|
rs1385855088 CA410778207 |
582 | V>A | No |
ClinGen gnomAD |
|
|
CA10119042 rs752876197 |
583 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10119044 rs369697241 |
584 | E>* | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1395426341 CA410778225 |
585 | S>C | No |
ClinGen TOPMed |
|
|
CA10119046 rs755958130 |
586 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1305693117 CA410778241 |
587 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA410778246 rs1225413757 |
587 | A>V | No |
ClinGen gnomAD |
|
|
CA10119048 rs374677947 |
588 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410778262 rs374677947 |
588 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267284608 CA410778258 |
588 | R>W | No |
ClinGen gnomAD |
|
|
CA410778270 rs1209499093 |
589 | L>M | No |
ClinGen gnomAD |
|
|
CA410778277 rs1251316422 |
589 | L>P | No |
ClinGen gnomAD |
|
|
CA10119049 rs754685052 |
590 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 590 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778533939 CA10119050 |
592 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA10119052 rs747738203 |
593 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA410778364 rs1383509012 |
594 | L>F | No |
ClinGen TOPMed |
|
|
rs961282168 CA322270029 |
596 | E>G | No |
ClinGen Ensembl |
|
|
rs1035245166 CA322270026 |
596 | E>K | No |
ClinGen Ensembl |
|
|
rs1601722045 CA410778462 |
598 | C>G | No |
ClinGen Ensembl |
|
|
CA410778465 rs1315521067 |
598 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 601 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147714157 CA322270035 |
601 | F>S | No |
ClinGen ESP TOPMed |
|
|
CA410778505 rs1215420572 |
604 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA410778502 rs1212604192 |
604 | K>T | No |
ClinGen gnomAD |
|
|
CA410778511 rs771620465 CA10119077 |
605 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1485624337 CA410778509 |
605 | E>G | No |
ClinGen gnomAD |
|
|
rs140867378 CA10119076 |
605 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA322270042 rs140867378 |
605 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10119078 rs777269581 |
606 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1197801948 CA410778517 |
607 | H>Y | No |
ClinGen TOPMed |
|
|
rs1451642530 CA410778530 |
608 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 608 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs973214079 CA322270071 |
613 | M>I | No |
ClinGen TOPMed |
|
|
CA322270068 rs963149046 |
613 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA410778566 rs963149046 |
613 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1434688462 CA410778563 |
613 | M>V | No |
ClinGen gnomAD |
|
|
CA10119084 rs763044573 |
614 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10119082 rs775803225 |
614 | M>V | No |
ClinGen ExAC gnomAD |
|
| rs746246349 | 615 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372521633 CA410778577 |
615 | K>E | No |
ClinGen gnomAD |
|
|
CA10119086 rs774354985 |
617 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1302390050 CA410778604 |
618 | E>D | No |
ClinGen gnomAD |
|
|
CA10119088 rs766345180 |
618 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10119091 rs568213908 |
619 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1277339342 CA410778611 |
620 | L>F | No |
ClinGen gnomAD |
|
|
rs1389937904 CA410778619 |
621 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
RCV001008568 rs1601722136 |
623 | P>missing | No |
ClinVar dbSNP |
|
|
rs1453133601 CA410778630 |
623 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1173556784 CA410778636 |
624 | L>P | No |
ClinGen TOPMed |
|
|
rs777465157 CA10119095 |
626 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs751178509 CA10119096 |
627 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA322270119 rs974122911 |
628 | I>T | No |
ClinGen gnomAD |
|
|
rs1924776523 RCV001092754 |
629 | V>missing | No |
ClinVar dbSNP |
|
|
rs750813513 CA10119097 |
630 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372970613 CA410778674 |
631 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372970613 CA10119099 |
631 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410778675 rs1353029152 |
632 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs144711904 CA322270149 |
634 | Q>* | No |
ClinGen ESP gnomAD |
|
|
rs148677674 CA10119102 |
635 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10119104 rs553579098 |
636 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs780380199 | 637 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10119105 rs774602812 |
637 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA410778717 rs1270242791 |
639 | T>P | No |
ClinGen gnomAD |
|
|
rs866139168 CA322270212 |
640 | P>L | No |
ClinGen gnomAD |
|
|
rs1221888151 CA410778729 |
641 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10119106 rs761930964 |
642 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA410778746 rs1466979527 |
643 | Q>R | No |
ClinGen gnomAD |
|
|
rs1569157562 CA410778751 |
644 | P>A | No |
ClinGen Ensembl |
|
|
rs1414655830 CA410778759 |
645 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs148916790 CA10119108 |
647 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10119109 rs759404919 |
647 | I>T | No |
ClinGen ExAC |
|
|
CA410778806 rs1417500183 |
648 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA410778808 rs1417500183 |
648 | G>S | No |
ClinGen gnomAD |
|
|
rs774401447 CA10119168 |
649 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10119170 rs771945045 |
650 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA410778933 rs1391293142 |
650 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 650 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10119171 rs772771157 |
652 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs760312637 CA10119172 |
653 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs760312637 CA410778950 |
653 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA10119176 rs765770040 |
655 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410778967 rs199696566 |
655 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410778965 rs1356385580 |
655 | M>V | No |
ClinGen gnomAD |
|
|
CA10119177 rs753177486 |
656 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA10119178 rs763326241 |
656 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410778982 rs1327559073 |
657 | A>E | No |
ClinGen TOPMed |
|
|
CA638942512 rs1380657102 |
657 | A>T | No |
ClinGen gnomAD |
|
|
CA410778989 rs939793375 CA410778990 |
658 | Y>* | No |
ClinGen TOPMed |
|
|
rs1485171907 CA410778984 |
658 | Y>D | No |
ClinGen gnomAD |
|
|
CA410778997 rs151000791 |
660 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781255401 CA10119183 |
661 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs200248773 CA410779010 |
662 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10119188 rs748059089 |
663 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA10119187 rs748059089 |
663 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA410779015 rs1467490184 |
663 | G>V | No |
ClinGen gnomAD |
|
|
CA10119191 rs140874089 |
664 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA322271015 rs890051054 |
665 | E>* | No |
ClinGen Ensembl |
|
|
CA10119194 rs769240961 |
665 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA410779019 rs890051054 |
665 | E>K | No |
ClinGen Ensembl |
|
|
CA638942513 rs1224744059 |
667 | C>* | No |
ClinGen gnomAD |
|
|
CA410779038 rs1306708803 |
667 | C>S | No |
ClinGen gnomAD |
|
|
CA410779051 rs1285166539 |
669 | I>N | No |
ClinGen gnomAD |
|
|
CA410779056 rs1272518485 |
670 | T>A | No |
ClinGen TOPMed |
|
|
CA322271020 rs141679122 |
670 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10119197 rs141679122 |
670 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs891862342 CA322271039 |
671 | L>M | No |
ClinGen gnomAD |
|
|
CA10119199 rs762077546 |
671 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10119201 rs369362070 |
675 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1601722848 CA410779090 |
676 | H>P | No |
ClinGen Ensembl |
|
|
CA10119204 rs752699291 |
678 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10119203 rs780217270 |
678 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410779106 rs1434258545 |
679 | P>S | No |
ClinGen gnomAD |
|
|
CA322271065 rs766706053 |
681 | H>P | No |
ClinGen Ensembl |
|
|
rs777570660 CA10119207 |
682 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA410779126 rs1376902786 |
682 | K>R | No |
ClinGen TOPMed |
|
|
CA10119208 rs746865667 |
684 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10119210 rs780915875 |
687 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 687 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774921494 CA10119212 |
690 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA410779189 rs773774069 CA10119235 |
691 | Y>* | No |
ClinGen ExAC TOPMed |
|
|
CA10119236 rs534259664 |
692 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410779194 CA410779193 rs1165871561 |
692 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA322271220 rs766752047 |
692 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10119237 rs766752047 |
692 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470649951 CA410779198 |
693 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 694 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776974984 CA10119238 |
695 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs765187155 CA10119240 |
696 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001236009 rs759679943 CA10119239 |
696 | F>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA10119243 rs370638947 |
697 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370638947 CA10119242 |
697 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410779267 rs1286590554 |
699 | F>I | No |
ClinGen gnomAD |
|
|
CA10119245 rs373975296 |
700 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10119244 rs755871821 |
700 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410779313 rs1327579827 |
701 | P>R | No |
ClinGen TOPMed |
|
|
rs1215936951 CA410779309 |
701 | P>S | No |
ClinGen TOPMed |
|
|
CA322271258 rs199765826 |
702 | E>K | No |
ClinGen gnomAD |
|
|
CA322271261 rs199765826 |
702 | E>Q | No |
ClinGen gnomAD |
|
|
rs778230140 CA10119248 RCV001051675 |
703 | D>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs747682745 CA10119249 |
704 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747682745 CA410779370 |
704 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778396468 CA10119251 |
705 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1393621880 CA410779379 |
705 | Q>P | No |
ClinGen TOPMed |
|
|
rs1486664196 CA410779398 |
706 | V>A | No |
ClinGen gnomAD |
|
|
rs747431522 CA10119252 |
706 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA410779457 rs1201866390 |
709 | S>F | No |
ClinGen gnomAD |
|
|
CA410779494 rs777021795 CA10119254 |
711 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410779511 rs1409419929 |
712 | E>* | No |
ClinGen gnomAD |
|
|
CA10119255 rs371920401 |
713 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1400606234 CA410779523 |
713 | M>V | No |
ClinGen gnomAD |
|
|
rs775489034 CA10119257 |
717 | R>G | No |
ClinGen ExAC |
|
|
CA10119258 rs763082355 |
717 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767482247 CA10119259 |
718 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA410779674 rs1444173399 |
720 | F>V | No |
ClinGen gnomAD |
|
|
CA10119261 rs570948606 |
721 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 724 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10119263 rs766095536 |
724 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs752191147 CA10119266 |
725 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410779975 rs1376063242 |
728 | Y>H | No |
ClinGen gnomAD |
|
|
CA410779988 rs117346988 |
729 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10119267 rs776223531 |
729 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1434861982 CA410779992 |
730 | G>D | No |
ClinGen gnomAD |
|
|
CA10119269 rs199625022 |
730 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377445349 CA10119271 |
731 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA410780002 rs1601723149 |
732 | V>F | No |
ClinGen Ensembl |
|
|
CA410780006 rs1601723150 |
732 | V>G | No |
ClinGen Ensembl |
|
|
CA410780045 rs1305625607 |
738 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs762991620 CA10119276 RCV001280938 RCV002537908 |
739 | S>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA410780059 rs1569158109 |
740 | L>V | No |
ClinGen Ensembl |
|
|
CA10119307 rs756794250 |
741 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA410780741 rs1271755631 |
743 | F>L | No |
ClinGen Ensembl |
|
|
rs1189643616 CA410780752 |
745 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA410780754 rs1189643616 |
745 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1484781267 CA410780759 |
746 | P>L | No |
ClinGen TOPMed |
|
|
rs750893001 CA10119310 |
746 | P>S | No |
ClinGen ExAC |
|
|
rs756466043 CA10119312 |
747 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410780765 rs1474790426 |
747 | Y>C | No |
ClinGen gnomAD |
|
|
CA410780771 rs749640575 |
748 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10119314 rs749640575 |
748 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs779077819 CA10119316 |
749 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359992200 CA410780781 |
750 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA322273513 rs763502502 |
752 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10119320 rs763502502 |
752 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1310994895 CA410780804 |
753 | N>S | No |
ClinGen gnomAD |
|
|
rs1360345883 CA410780823 |
756 | L>P | No |
ClinGen TOPMed |
|
|
rs774123273 CA10119326 |
757 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA410780834 rs767013106 |
758 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10119328 rs767013106 |
758 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181002142 CA410780847 |
760 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10119330 rs756703168 |
761 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA410780886 rs1175579360 |
765 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs754243226 CA10119332 |
766 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs766793703 CA10119331 |
766 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs531211534 CA10119334 |
769 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs766983171 CA10119338 |
771 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA410780931 rs140327903 |
772 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777847375 CA10119339 |
772 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA410780939 rs1207597060 |
774 | L>M | No |
ClinGen gnomAD |
|
|
CA322273619 CA410780949 rs377557832 |
775 | Q>H | No |
ClinGen ESP gnomAD |
|
|
rs1274127264 CA410780972 |
777 | L>P | No |
ClinGen TOPMed |
|
|
CA10119366 rs760257587 |
777 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs759983066 CA322273751 |
780 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10119369 rs759983066 |
780 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777131276 CA10119368 |
780 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs763193690 CA10119372 CA410780997 |
781 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410780990 rs1319833160 |
781 | D>N | No |
ClinGen gnomAD |
|
|
rs775896601 CA10119371 |
781 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA410781002 rs1488624802 |
782 | K>Q | No |
ClinGen gnomAD |
|
|
RCV001346602 CA322273767 rs143507674 |
783 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP |
|
RCV001321109 rs751123751 |
784 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1489766065 CA410781021 |
784 | Q>* | No |
ClinGen Ensembl |
|
|
rs764422501 CA10119374 |
785 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA410781034 rs1164174103 |
786 | L>P | No |
ClinGen gnomAD |
|
|
CA410781063 rs757388757 |
789 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410781059 rs1370157440 |
789 | K>R | No |
ClinGen TOPMed |
|
|
rs555586109 CA10119379 |
790 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10119378 rs555586109 |
790 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748026648 CA410781109 |
792 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10119381 rs748026648 |
792 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000413973 CA16043247 rs1057518130 |
793 | L>Q | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs758081836 CA10119382 |
793 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1407594215 CA410781169 |
796 | I>V | No |
ClinGen gnomAD |
|
|
CA410781207 rs1353932241 |
798 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1353932241 CA410781209 |
798 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10119387 rs745373483 |
800 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA410781261 rs1215965010 |
801 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
RCV001009171 rs1601723893 |
802 | K>missing | No |
ClinVar dbSNP |
|
|
rs878934576 CA322273823 |
802 | K>E | No |
ClinGen Ensembl |
|
|
CA410781446 rs1601724079 |
803 | V>F | No |
ClinGen Ensembl |
|
| TCGA novel | 803 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189580871 CA410781466 |
804 | S>Y | No |
ClinGen gnomAD |
|
|
CA10119455 rs772575557 |
805 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778337323 CA10119456 |
807 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778337323 CA410781513 |
807 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1041569569 CA410781534 |
808 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10119457 rs747370262 |
808 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA410781549 rs771094125 |
809 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10119458 rs771094125 |
809 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs200195452 CA410781561 |
810 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10119460 rs200195452 |
810 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769880462 CA10119462 |
811 | S>* | No |
ClinGen ExAC |
|
|
rs769880462 CA10119461 |
811 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA410781567 rs1339976521 |
811 | S>P | No |
ClinGen gnomAD |
|
|
CA410781594 rs1311281590 |
813 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA410781615 rs1392689787 |
814 | Q>* | No |
ClinGen TOPMed |
|
|
CA410781672 rs1307942871 |
817 | L>P | No |
ClinGen gnomAD |
|
|
CA410781685 rs1064796286 |
818 | L>P | No |
ClinGen gnomAD |
|
|
RCV000482389 CA16621039 rs1064796286 |
818 | L>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs765969026 CA410781693 |
819 | D>A | No |
ClinGen ExAC |
|
|
CA10119468 rs765969026 |
819 | D>G | No |
ClinGen ExAC |
|
|
CA410781692 rs1350805220 |
819 | D>N | No |
ClinGen gnomAD |
|
|
CA410781713 rs1275511136 |
821 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1440272435 CA410781729 |
822 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10119466 rs748233625 |
822 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA10119471 rs753487638 |
822 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs764779655 CA10119473 |
823 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA410781758 rs1416835995 |
824 | L>V | No |
ClinGen TOPMed |
|
|
CA10119475 rs759036618 |
825 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA410781776 rs1465898978 |
825 | A>V | No |
ClinGen gnomAD |
|
|
CA410781802 rs1301431226 |
827 | H>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA410781805 rs1301431226 |
827 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA410781853 rs143177199 |
830 | D>H | No |
ClinGen TOPMed |
|
|
CA322274209 rs143177199 |
830 | D>N | No |
ClinGen TOPMed |
|
|
rs747431445 CA10119479 |
831 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs781302948 CA10119481 |
833 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA322274240 rs894106897 |
834 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA410781947 rs1259775939 |
835 | E>G | No |
ClinGen gnomAD |
|
|
rs150100732 CA10119483 |
836 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 837 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749366666 CA10119485 |
838 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA322274266 rs200658445 |
838 | A>V | No |
ClinGen TOPMed |
4 associated diseases with Q8N653
[MIM: 137800]: Glioma (GLM)
Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:30442766}. Note=The protein represented in this entry may be involved in disease pathogenesis.
[MIM: 615670]: Schwannomatosis 2 (SWNTS2)
A cancer predisposition syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves. {ECO:0000269|PubMed:24362817, ECO:0000269|PubMed:25335493, ECO:0000269|PubMed:25480913, ECO:0000269|PubMed:30442762, ECO:0000269|PubMed:30442766, ECO:0000269|PubMed:30481304}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 616564]: Noonan syndrome 10 (NS10)
A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS10 inheritance is autosomal dominant. {ECO:0000269|PubMed:25795793, ECO:0000269|PubMed:29959388, ECO:0000269|PubMed:30368668, ECO:0000269|PubMed:30442762, ECO:0000269|PubMed:30442766, ECO:0000269|PubMed:30481304}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 605275]: Noonan syndrome 2 (NS2)
A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS2 inheritance is autosomal recessive. {ECO:0000269|PubMed:29469822, ECO:0000269|PubMed:30368668, ECO:0000269|PubMed:30481304}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269|PubMed:30442766}. Note=The protein represented in this entry may be involved in disease pathogenesis.
- A cancer predisposition syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves. {ECO:0000269|PubMed:24362817, ECO:0000269|PubMed:25335493, ECO:0000269|PubMed:25480913, ECO:0000269|PubMed:30442762, ECO:0000269|PubMed:30442766, ECO:0000269|PubMed:30481304}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS10 inheritance is autosomal dominant. {ECO:0000269|PubMed:25795793, ECO:0000269|PubMed:29959388, ECO:0000269|PubMed:30368668, ECO:0000269|PubMed:30442762, ECO:0000269|PubMed:30442766, ECO:0000269|PubMed:30481304}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS2 inheritance is autosomal recessive. {ECO:0000269|PubMed:29469822, ECO:0000269|PubMed:30368668, ECO:0000269|PubMed:30481304}. Note=The disease may be caused by variants affecting the gene represented in this entry.
5 regional properties for Q8N653
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | BTB/POZ domain | 435 - 574 | IPR000210-1 |
| domain | BTB/POZ domain | 665 - 768 | IPR000210-2 |
| repeat | Kelch repeat type 1 | 79 - 128 | IPR006652-1 |
| repeat | Kelch repeat type 1 | 129 - 185 | IPR006652-2 |
| repeat | Kelch repeat type 1 | 227 - 339 | IPR006652-3 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| Cul3-RING ubiquitin ligase complex | A ubiquitin ligase complex in which a cullin from the Cul3 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a BTB-domain-containing protein. |
| endomembrane system | A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. |
| 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. |
| recycling endosome membrane | The lipid bilayer surrounding a recycling endosome. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| small GTPase binding | Binding to a small monomeric GTPase. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of Ras protein signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of Ras protein signal transduction. |
| protein ubiquitination | The process in which one or more ubiquitin groups are added to a protein. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5E9A7 | KLHDC2 | Kelch domain-containing protein 2 | Bos taurus (Bovine) | SS |
| Q8N7A1 | KLHDC1 | Kelch domain-containing protein 1 | Homo sapiens (Human) | SS |
| Q9Y2U9 | KLHDC2 | Kelch domain-containing protein 2 | Homo sapiens (Human) | EV |
| Q80YG3 | Klhdc1 | Kelch domain-containing protein 1 | Mus musculus (Mouse) | SS |
| Q4G5Y1 | Klhdc2 | Kelch domain-containing protein 2 | Mus musculus (Mouse) | SS |
| Q3KRE6 | Klhdc2 | Kelch domain-containing protein 2 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGPGSTGGQ | IGAAALAGGA | RSKVAPSVDF | DHSCSDSVEY | LTLNFGPFET | VHRWRRLPPC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DEFVGARRSK | HTVVAYKDAI | YVFGGDNGKT | MLNDLLRFDV | KDCSWCRAFT | TGTPPAPRYH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HSAVVYGSSM | FVFGGYTGDI | YSNSNLKNKN | DLFEYKFATG | QWTEWKIEGR | LPVARSAHGA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TVYSDKLWIF | AGYDGNARLN | DMWTIGLQDR | ELTCWEEVAQ | SGEIPPSCCN | FPVAVCRDKM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FVFSGQSGAK | ITNNLFQFEF | KDKTWTRIPT | EHLLRGSPPP | PQRRYGHTMV | AFDRHLYVFG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GAADNTLPNE | LHCYDVDFQT | WEVVQPSSDS | EVGGAEVPER | ACASEEVPTL | TYEERVGFKK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SRDVFGLDFG | TTSAKQPTQP | ASELPSGRLF | HAAAVISDAM | YIFGGTVDNN | IRSGEMYRFQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FSCYPKCTLH | EDYGRLWESR | QFCDVEFVLG | EKEECVQGHV | AIVTARSRWL | RRKITQARER |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LAQKLEQEAA | PVPREAPGVA | AGGARPPLLH | VAIREAEARP | FEVLMQFLYT | DKIKYPRKGH |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VEDVLLIMDV | YKLALSFQLC | RLEQLCRQYI | EASVDLQNVL | VVCESAARLQ | LSQLKEHCLN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FVVKESHFNQ | VIMMKEFERL | SSPLIVEIVR | RKQQPPPRTP | LDQPVDIGTS | LIQDMKAYLE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GAGAEFCDIT | LLLDGHPRPA | HKAILAARSS | YFEAMFRSFM | PEDGQVNISI | GEMVPSRQAF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ESMLRYIYYG | EVNMPPEDSL | YLFAAPYYYG | FYNNRLQAYC | KQNLEMNVTV | QNVLQILEAA |
| 790 | 800 | 810 | 820 | 830 | |
| DKTQALDMKR | HCLHIIVHQF | TKVSKLPTLR | SLSQQLLLDI | IDSLASHISD | KQCAELGADI |