Q9UPR0
PR
Gene name |
PLCL2 (KIAA1092, PLCE2) |
Protein name |
Inactive phospholipase C-like protein 2 |
Names |
PLC-L(2), PLC-L2, Phospholipase C-L2, Phospholipase C-epsilon-2, PLC-epsilon-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23228 |
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 Q9UPR0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UPR0-F1 | Predicted | AlphaFoldDB |
668 variants for Q9UPR0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs368284573 CA1348210387 CA70813324 |
3 | E>D | No |
ExAC gnomAD ClinGen |
|
|
CA1348210389 rs1487125279 |
4 | C>G | No |
ClinGen TOPMed |
|
|
rs1487125279 CA902302569 |
4 | C>S | No |
ClinGen TOPMed |
|
|
CA432728860 rs1212157679 |
5 | G>A | No |
gnomAD ClinGen |
|
|
rs549925423 CA1348210393 |
6 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1575508426 CA1348210396 |
6 | R>P | No |
ClinGen Ensembl |
|
|
CA70813325 rs549925423 |
6 | R>W | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1480178467 CA916843037 |
6 | R>WV | No |
gnomAD ClinGen |
|
|
rs1360967808 CA902302578 |
7 | G>R | No |
TOPMed ClinGen |
|
|
rs372006934 CA70813327 |
7 | G>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1360967808 CA902302580 |
7 | G>W | No |
TOPMed ClinGen |
|
|
rs1228277096 CA351928068 |
8 | G>D | No |
TOPMed ClinGen |
|
|
rs1559474710 CA351928065 |
8 | G>R | No |
Ensembl ClinGen |
|
|
CA351928072 rs1363225357 |
9 | A>P | No |
ClinGen TOPMed |
|
|
CA351928080 rs373958057 |
10 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA70813328 rs373958057 |
10 | A>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1168940962 CA351928084 |
11 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
CA351928091 rs1354523959 |
12 | G>E | No |
ClinGen gnomAD |
|
|
CA351928112 rs1310274323 |
16 | T>A | No |
TOPMed gnomAD ClinGen |
|
|
rs1164108936 CA351928116 |
16 | T>I | No |
ClinGen TOPMed |
|
|
CA351928113 rs1310274323 |
16 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA351928122 rs1351897953 |
17 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1306459289 CA351928126 |
18 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1306459289 CA351928127 |
18 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1442701875 CA351928132 |
19 | G>D | No |
gnomAD ClinGen |
|
|
rs1282017361 CA351928139 |
20 | P>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1262105204 CA351928137 |
20 | P>S | No |
TOPMed ClinGen |
|
|
rs7626446 CA70813329 |
21 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351928147 rs1365410181 |
22 | L>F | No |
gnomAD ClinGen |
|
|
CA351928152 rs1218641177 |
23 | G>S | No |
gnomAD ClinGen |
|
|
CA351928166 rs1349478641 |
25 | K>Q | No |
gnomAD ClinGen |
|
|
rs1220146779 CA351928174 |
26 | G>C | No |
ClinGen TOPMed |
|
|
CA351928175 rs1202367606 |
26 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA351928173 rs1220146779 |
26 | G>R | No |
ClinGen TOPMed |
|
|
CA351928197 rs1270771054 |
30 | A>P | No |
ClinGen gnomAD |
|
|
CA351928199 rs1270771054 |
30 | A>T | No |
ClinGen gnomAD |
|
|
rs764194893 CA351928212 |
32 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA351928213 rs764194893 |
32 | V>E | No |
ExAC gnomAD ClinGen |
|
|
rs764194893 CA2280530 |
32 | V>G | No |
ExAC gnomAD ClinGen |
|
|
CA351928211 rs1437994526 |
32 | V>L | No |
ClinGen gnomAD |
|
|
rs1234896739 CA351928219 |
33 | G>V | No |
gnomAD ClinGen |
|
|
rs1191185879 CA351928223 |
34 | E>A | No |
gnomAD ClinGen |
|
|
rs1477243540 CA351928222 |
34 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1477243540 CA351928220 |
34 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs6442655 CA70813331 |
35 | G>D | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA351928232 rs6442655 |
35 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1166753377 CA351928233 |
36 | G>S | No |
gnomAD ClinGen |
|
|
CA351928241 rs6442656 |
37 | G>D | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs778662289 CA2280533 |
37 | G>S | No |
ClinGen ExAC |
|
|
CA70813332 rs6442656 |
37 | G>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA351928246 rs1331126646 |
38 | G>E | No |
ClinGen gnomAD |
|
|
CA351928248 rs1331126646 |
38 | G>V | No |
gnomAD ClinGen |
|
|
CA351928249 rs1222026669 |
39 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1269946420 CA351928254 |
39 | G>V | No |
ClinGen gnomAD |
|
|
CA351928255 rs1304116456 |
40 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1373041013 CA351928258 |
40 | G>D | No |
gnomAD ClinGen |
|
|
rs1304116456 CA351928257 |
40 | G>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1296150154 CA351928264 |
41 | R>H | No |
ClinGen gnomAD |
|
|
CA351928274 rs1339668687 |
43 | G>C | No |
ClinGen gnomAD |
|
|
CA1348233111 rs7626542 |
43 | G>D | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA351928273 rs1339668687 |
43 | G>S | No |
gnomAD ClinGen |
|
|
CA70813333 rs7626542 |
43 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1213426810 CA351928279 |
44 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1450296320 CA351928278 |
44 | H>Y | No |
ClinGen gnomAD |
|
|
CA351928286 rs1470183263 |
45 | G>W | No |
gnomAD ClinGen |
|
|
CA351928293 rs1186759605 |
46 | R>L | No |
gnomAD ClinGen |
|
|
rs866778816 CA70813335 |
46 | R>W | No |
Ensembl ClinGen |
|
|
rs1169917042 CA351928298 |
47 | A>G | No |
gnomAD ClinGen |
|
|
rs1475775252 CA351928294 |
47 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1404579719 CA351928303 |
48 | R>H | No |
TOPMed gnomAD ClinGen |
|
|
rs1434586864 CA351928310 |
49 | Y>C | No |
ClinGen TOPMed |
|
|
CA351928322 rs1396611464 |
51 | S>G | No |
TOPMed gnomAD ClinGen |
|
|
CA351928333 rs1319807009 |
52 | G>D | No |
gnomAD ClinGen |
|
|
rs1432266736 CA351928337 |
53 | G>R | No |
ClinGen gnomAD |
|
|
CA2280536 rs199698930 |
54 | V>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351928353 rs1197320158 |
55 | S>F | No |
ClinGen TOPMed |
|
|
rs1264175287 CA351928359 |
56 | N>I | No |
TOPMed ClinGen |
|
|
rs1274137928 CA351928384 |
60 | S>R | No |
gnomAD ClinGen |
|
|
CA2280537 rs747396140 |
61 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1447694419 CA351928402 |
62 | G>D | No |
ClinGen gnomAD |
|
|
rs555322029 CA2280538 |
64 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474968671 CA351928417 |
65 | G>E | No |
gnomAD ClinGen |
|
|
CA351928443 rs1392103438 |
69 | R>W | No |
ClinGen TOPMed |
|
|
CA70813337 rs896379866 |
71 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs537258943 CA2280539 |
72 | P>L | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA351928466 rs1419850325 |
73 | T>A | No |
gnomAD ClinGen |
|
|
rs1158404515 CA351928471 |
74 | R>G | No |
gnomAD ClinGen |
|
|
rs1385545118 CA351928473 |
74 | R>K | No |
TOPMed gnomAD ClinGen |
|
|
CA351928489 rs1383448753 |
76 | P>L | No |
ClinGen gnomAD |
|
|
rs1229064663 CA351928486 |
76 | P>S | No |
ClinGen gnomAD |
|
|
CA351928492 rs1339522907 |
77 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA351928503 rs1357811690 |
79 | V>D | No |
ClinGen gnomAD |
|
|
CA2280541 rs769891597 |
79 | V>F | No |
ExAC gnomAD ClinGen |
|
|
CA70813339 rs769891597 |
79 | V>L | No |
ExAC gnomAD ClinGen |
|
|
rs760001788 CA70813340 |
80 | A>P | No |
Ensembl ClinGen |
|
|
rs1260681897 CA351928519 |
82 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1351960625 CA351928522 |
82 | A>V | No |
ClinGen gnomAD |
|
|
CA70813342 rs576619453 |
83 | P>S | No |
ClinGen 1000Genomes |
|
|
rs1276505824 CA351928533 |
84 | T>I | No |
ClinGen gnomAD |
|
|
CA70813343 rs555576288 |
88 | V>A | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
rs1176188134 CA351928560 |
89 | V>L | No |
ClinGen TOPMed |
|
|
CA70813346 rs1028005156 |
91 | T>P | No |
Ensembl ClinGen |
|
|
CA70813348 rs572429817 |
92 | L>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs572429817 CA351928579 |
92 | L>V | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
CA351928586 rs955995466 |
93 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA70813350 rs955995466 |
93 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs955995466 CA351928587 |
93 | P>R | No |
TOPMed gnomAD ClinGen |
|
|
CA70813352 rs541050122 |
95 | E>D | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA351928619 rs1314373861 |
98 | P>L | No |
TOPMed gnomAD ClinGen |
|
|
CA351928631 rs1306660737 |
100 | G>D | No |
gnomAD ClinGen |
|
|
rs1408405865 CA351928630 |
100 | G>S | No |
ClinGen gnomAD |
|
|
rs1241889953 CA351928643 |
102 | P>R | No |
ClinGen gnomAD |
|
|
rs1191053119 CA351928639 |
102 | P>T | No |
ClinGen gnomAD |
|
|
CA70813353 rs537937691 |
103 | R>G | No |
Ensembl ClinGen |
|
|
CA351928651 rs1347311081 |
104 | R>G | No |
ClinGen gnomAD |
|
|
CA70813354 rs915413256 |
104 | R>P | No |
TOPMed gnomAD ClinGen |
|
|
CA351928673 rs1482169508 |
107 | I>N | No |
gnomAD ClinGen |
|
|
CA70813355 rs964264192 |
109 | K>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1442196761 CA351928718 |
111 | G>C | No |
gnomAD ClinGen |
|
|
rs771118894 CA2280562 |
111 | G>V | No |
ExAC gnomAD ClinGen |
|
|
CA2280563 rs774451232 |
116 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351928753 rs774451232 |
116 | R>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351928766 rs1296600297 |
118 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs760499396 CA2280564 |
118 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA70826757 rs868479386 |
123 | S>L | No |
ClinGen Ensembl |
|
|
rs761824231 CA2280567 |
125 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA70826759 rs1002572945 |
128 | P>R | No |
TOPMed ClinGen |
|
|
CA351928840 rs1559517017 |
129 | T>A | No |
ClinGen Ensembl |
|
|
CA2280569 rs749876948 |
129 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA351928851 rs1323374501 |
130 | E>D | No |
gnomAD ClinGen |
|
|
rs762379829 CA2280570 |
133 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263442071 CA351928869 |
133 | I>V | No |
ClinGen gnomAD |
|
|
rs1295300960 CA351928875 |
134 | S>G | No |
ClinGen Ensembl |
|
|
rs1364879500 CA351928884 |
135 | S>C | No |
ClinGen TOPMed |
|
|
CA70826761 rs1016489666 |
144 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 145 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781512811 CA2280574 |
148 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs781512811 CA351928975 |
148 | E>Q | No |
ExAC gnomAD ClinGen |
|
|
rs1453171745 CA351928984 |
149 | L>F | No |
ClinGen gnomAD |
|
|
CA2280575 rs141837634 |
152 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141837634 CA2280576 |
152 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1462336512 CA351929010 |
153 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
rs778209736 CA2280577 |
154 | S>C | No |
ExAC gnomAD ClinGen |
|
|
CA2280578 rs749373345 |
155 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA2280579 rs200484259 |
160 | H>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1282105808 CA351929072 |
162 | Y>C | No |
TOPMed gnomAD ClinGen |
|
|
CA70826762 rs749321876 |
165 | L>M | No |
ClinGen TOPMed |
|
|
rs1215905467 CA351929095 |
166 | D>N | No |
gnomAD ClinGen |
|
|
rs570594685 CA70826763 |
168 | D>V | No |
Ensembl ClinGen |
|
|
rs1481987231 CA351929122 |
169 | M>I | No |
gnomAD ClinGen |
|
|
rs1261903038 CA351929117 |
169 | M>V | No |
TOPMed gnomAD ClinGen |
|
|
rs761771277 CA2280584 |
180 | D>G | No |
ExAC gnomAD ClinGen |
|
|
CA2280585 rs769761633 |
185 | K>R | No |
ExAC gnomAD ClinGen |
|
|
CA70826764 rs768818518 |
187 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1315235303 CA351929247 |
187 | D>N | No |
ClinGen TOPMed |
|
|
rs762497210 CA2280587 |
188 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432917555 CA351929281 |
192 | K>Q | No |
gnomAD ClinGen |
|
|
CA351929284 rs1312545112 |
192 | K>R | No |
ClinGen gnomAD |
|
|
CA70826765 rs926704167 |
195 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs77416948 CA70826766 |
197 | G>E | No |
Ensembl ClinGen |
|
| TCGA novel | 199 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 199 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1575584774 CA351929346 |
201 | D>G | No |
Ensembl ClinGen |
|
|
rs759132742 CA2280590 |
204 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA351929367 rs1224337070 |
204 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1345182120 CA351929391 |
207 | G>V | No |
ClinGen gnomAD |
|
|
rs1209476751 CA351929394 |
208 | I>V | No |
ClinGen gnomAD |
|
|
rs1468896326 CA351929417 |
211 | Q>H | No |
TOPMed gnomAD ClinGen |
|
|
rs748421376 CA2280593 |
211 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA70826767 rs17853614 VAR_032507 |
211 | Q>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1163637989 CA351929444 |
215 | D>G | No |
ClinGen TOPMed |
|
|
rs1469932895 CA351929452 |
216 | C>F | No |
gnomAD ClinGen |
|
|
rs754340410 CA2280595 |
216 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA351929448 rs754340410 |
216 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA70826769 rs1041694597 |
220 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
CA351929481 rs1404329619 |
221 | I>V | No |
ClinGen gnomAD |
|
|
rs1407970515 CA351929490 |
222 | Y>C | No |
gnomAD ClinGen |
|
|
rs745955226 CA2280598 |
222 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2280600 rs780485591 |
223 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs933987581 CA70826770 |
224 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs747938298 CA2280601 |
228 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2280603 rs773093761 |
231 | L>V | No |
ExAC gnomAD ClinGen |
|
|
CA2280604 rs749132776 |
235 | S>P | No |
ExAC gnomAD ClinGen |
|
|
CA351929581 rs767142997 |
236 | A>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs369130951 CA2280607 |
236 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2280606 rs369130951 |
236 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2280608 rs767142997 |
236 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559517305 CA351929598 |
239 | A>T | No |
Ensembl ClinGen |
|
|
rs775170865 CA2280610 |
241 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775170865 CA2280609 |
241 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70826771 rs1007338174 |
243 | V>I | No |
ClinGen TOPMed |
|
|
CA2280612 rs754249764 |
244 | T>I | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 245 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750522155 CA2280615 |
250 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA351929676 rs1381067460 |
252 | Y>H | No |
ClinGen TOPMed |
|
|
CA2280617 rs61755447 |
255 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 255 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755252145 CA2280619 |
257 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs777375060 CA2280620 |
259 | M>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1372598402 CA351929747 |
262 | S>G | No |
ClinGen gnomAD |
|
|
CA2280621 rs146652187 |
265 | D>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2280622 rs373887874 |
266 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1462136997 CA351929781 |
266 | N>S | No |
TOPMed ClinGen |
|
|
CA351929787 rs1374633462 |
267 | M>L | No |
ClinGen TOPMed |
|
|
CA351929794 rs1190720412 |
268 | R>G | No |
TOPMed ClinGen |
|
|
CA351929796 rs1260325967 |
268 | R>K | No |
ClinGen gnomAD |
|
|
rs745358993 CA351929811 |
270 | S>C | No |
ExAC gnomAD ClinGen |
|
|
CA2280624 rs745358993 |
270 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1453443221 CA351929846 |
275 | M>I | No |
gnomAD ClinGen |
|
|
CA2280625 rs771608626 |
275 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA351929844 rs1274334587 |
275 | M>T | No |
gnomAD ClinGen |
|
|
rs1234124494 CA351929861 |
277 | S>T | No |
gnomAD ClinGen |
|
|
rs1277096347 CA351929898 |
282 | D>G | No |
gnomAD ClinGen |
|
|
CA351929902 rs1241756727 |
283 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA70826773 rs924514337 |
284 | L>P | No |
Ensembl ClinGen |
|
|
CA2280628 rs375957597 |
285 | G>E | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs934592219 CA70826775 |
286 | H>L | No |
ClinGen TOPMed |
|
|
rs934592219 CA70826774 |
286 | H>R | No |
TOPMed ClinGen |
|
|
rs201806022 CA2280630 |
287 | I>T | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA2280629 rs776790106 |
287 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1209490714 CA351929940 |
289 | L>P | No |
TOPMed ClinGen |
|
|
rs1165612605 CA351929945 |
290 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2280631 rs765821396 |
292 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1284498418 CA351929968 |
293 | V>G | No |
TOPMed ClinGen |
|
|
CA351929963 rs1316950096 |
293 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
rs759007948 CA2280633 |
294 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70826776 rs570755193 |
295 | C>R | No |
ClinGen TOPMed |
|
|
CA351929978 rs1354012781 |
295 | C>Y | No |
gnomAD ClinGen |
|
|
rs771810734 CA70826777 |
300 | N>S | No |
TOPMed gnomAD ClinGen |
|
|
rs755091224 CA2280636 |
305 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs369709033 CA2280637 |
305 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs757093414 CA2280639 |
307 | K>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351930065 rs1219134335 |
308 | I>V | No |
ClinGen gnomAD |
|
|
rs867064216 CA70826778 |
309 | E>K | No |
ClinGen Ensembl |
|
|
rs373183294 CA2280640 |
310 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2280642 rs772017357 |
312 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA70826779 rs982704058 |
312 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2280643 rs779371103 |
313 | K>T | No |
ExAC gnomAD ClinGen |
|
|
rs1310742959 CA351930143 |
319 | K>Q | No |
gnomAD ClinGen |
|
|
CA351930153 rs1206850159 |
320 | D>G | No |
ClinGen gnomAD |
|
|
CA70826780 rs906979876 |
322 | A>P | No |
ClinGen gnomAD |
|
|
CA351930165 rs906979876 |
322 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2280645 rs768185503 |
322 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs199524890 CA2280646 |
323 | G>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA2280647 rs762056969 |
323 | G>D | No |
ExAC gnomAD ClinGen |
|
|
CA2280649 rs201807569 |
325 | E>K | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs763497965 CA2280650 |
326 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1278483894 CA351930196 |
327 | T>I | No |
gnomAD ClinGen |
|
|
rs1485435450 CA351930198 |
328 | K>E | No |
gnomAD ClinGen |
|
|
CA2280652 rs751587517 |
329 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351930218 rs1379255167 |
330 | E>D | No |
ClinGen gnomAD |
|
|
rs1435853053 CA351930229 |
332 | I>V | No |
gnomAD ClinGen |
|
|
rs759720431 CA2280653 |
333 | E>A | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 333 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2280655 rs753002943 |
334 | V>A | No |
ExAC gnomAD ClinGen |
|
|
CA2280654 rs767612275 |
334 | V>F | No |
ExAC gnomAD ClinGen |
|
|
CA2280656 rs753002943 |
334 | V>G | No |
ExAC gnomAD ClinGen |
|
|
CA351930258 rs1575585166 |
336 | H>R | No |
Ensembl ClinGen |
|
|
CA2280657 rs778628224 |
338 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA351930277 rs1435017387 |
339 | C>R | No |
gnomAD ClinGen |
|
|
CA351930278 rs1304205934 |
339 | C>Y | No |
ClinGen gnomAD |
|
|
CA2280660 rs780102401 |
340 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA70826781 rs553362661 |
342 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 344 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 348 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 352 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746484433 CA2280661 |
353 | S>C | No |
ExAC gnomAD ClinGen |
|
|
CA2280662 rs768256550 |
354 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2280663 rs143119990 |
357 | F>L | No |
ClinGen ESP ExAC |
|
|
rs1257958055 CA351930413 |
358 | L>P | No |
gnomAD ClinGen |
|
|
rs1337254955 CA351930417 |
359 | D>G | No |
gnomAD ClinGen |
|
|
rs747757874 CA2280664 |
359 | D>H | No |
ExAC ClinGen |
|
|
rs773647246 CA2280666 |
360 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs763479680 CA2280667 |
361 | K>E | No |
ExAC gnomAD ClinGen |
|
|
rs1251894641 CA351930449 |
364 | M>V | No |
gnomAD ClinGen |
|
|
rs771329080 CA2280668 |
371 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2280669 rs774972817 |
375 | H>R | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 377 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1167640881 CA351930582 |
382 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
CA351930610 rs1449738459 |
386 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 388 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 390 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767593656 CA2280671 |
392 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA351930710 rs1226441292 |
399 | W>C | No |
ClinGen gnomAD |
|
|
CA2280674 rs764302528 |
399 | W>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351930706 rs1370940224 |
399 | W>S | No |
gnomAD ClinGen |
|
|
CA351930712 rs1406576867 |
400 | L>F | No |
ClinGen TOPMed |
|
|
CA351930725 rs1211789736 |
402 | I>L | No |
gnomAD ClinGen |
|
|
CA70826783 rs200850821 |
402 | I>M | No |
ClinGen Ensembl |
|
|
rs1272435894 CA351930729 |
403 | D>N | No |
ClinGen gnomAD |
|
|
CA351930739 rs1387388104 |
404 | G>R | No |
ClinGen gnomAD |
|
|
CA351930745 rs1575585295 |
405 | F>V | No |
ClinGen Ensembl |
|
|
CA2280680 rs370655970 |
410 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365540208 CA351930802 |
413 | D>G | No |
ClinGen TOPMed |
|
|
CA2280681 rs747668436 |
413 | D>H | No |
ExAC gnomAD ClinGen |
|
|
CA70826785 rs1052021294 |
414 | C>Y | No |
TOPMed ClinGen |
|
| TCGA novel | 416 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467491919 CA351930832 |
417 | F>C | No |
ClinGen gnomAD |
|
|
CA351930836 rs1394343507 |
418 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1458498287 CA351930841 |
418 | D>V | No |
ClinGen gnomAD |
|
|
CA2280684 rs749649326 |
419 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1360144143 CA351930854 |
420 | E>V | No |
ClinGen gnomAD |
|
|
rs771366376 CA70826786 |
421 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2280687 rs746336271 |
424 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA70826787 rs1028352898 |
427 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 447 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351931055 rs1223130388 |
448 | D>N | No |
ClinGen gnomAD |
|
|
rs955480597 CA70826789 |
451 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1264843053 CA351931101 |
455 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 459 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2280694 rs766153923 |
460 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751327515 CA2280695 |
461 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA2280696 rs754880897 |
461 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 464 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351931229 rs1453102815 |
474 | V>I | No |
gnomAD ClinGen |
|
|
CA2280699 rs755734000 |
478 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70826791 rs934562037 |
478 | P>S | No |
ClinGen Ensembl |
|
|
rs756882331 CA351931292 |
483 | V>I | No |
ExAC gnomAD ClinGen |
|
|
CA2280702 rs756882331 |
483 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA351931299 rs1315853973 |
484 | I>F | No |
gnomAD ClinGen |
|
|
rs779277898 CA2280703 |
490 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351931339 rs779277898 |
490 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2280705 rs772624991 |
494 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1402334030 CA351931370 |
494 | I>T | No |
ClinGen TOPMed |
|
|
CA2280706 rs139403153 |
497 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA351931386 rs139403153 |
497 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747064319 CA2280707 |
497 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs549874181 CA70826792 |
502 | I>T | No |
TOPMed gnomAD ClinGen |
|
|
CA2280709 rs776718002 |
502 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2280710 rs762041942 |
503 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs765385386 CA2280711 |
505 | K>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1359578919 CA351931468 |
509 | F>L | No |
gnomAD ClinGen |
|
|
CA70826794 rs777977507 |
516 | I>M | No |
ClinGen TOPMed |
|
|
CA2280713 rs759308467 |
519 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA70826795 rs867648116 |
520 | E>K | No |
Ensembl ClinGen |
|
|
CA351931582 rs1281570364 |
525 | I>T | No |
TOPMed ClinGen |
|
|
rs767540012 CA2280714 |
525 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1384793958 CA351931597 |
527 | Q>R | No |
ClinGen gnomAD |
|
|
CA2280716 rs756150407 |
529 | K>Q | No |
ExAC gnomAD ClinGen |
|
|
CA351931616 rs1003825474 |
530 | V>I | No |
TOPMed ClinGen |
|
|
CA70826796 rs1003825474 |
530 | V>L | No |
ClinGen TOPMed |
|
|
CA351931631 rs1243236597 |
532 | V>L | No |
TOPMed ClinGen |
|
|
CA351931644 rs1575585529 |
534 | H>Y | No |
ClinGen Ensembl |
|
|
rs770844300 CA70826797 |
539 | L>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2280719 rs543360275 |
540 | G>R | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs959603749 CA70826798 |
545 | T>I | No |
TOPMed ClinGen |
|
|
rs1480554157 CA351931756 |
549 | N>K | No |
ClinGen gnomAD |
|
|
rs1231684316 CA351931753 |
549 | N>S | No |
gnomAD ClinGen |
|
|
rs758733988 CA2280722 |
550 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750784609 CA2280721 |
550 | V>I | No |
ExAC gnomAD ClinGen |
|
|
rs1381781822 CA351931766 |
551 | E>A | No |
ClinGen gnomAD |
|
|
rs1173294361 CA351931782 |
553 | S>C | No |
ClinGen gnomAD |
|
|
rs573903013 CA2280724 |
554 | Y>C | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs1165744607 CA351931807 |
557 | S>C | No |
TOPMed ClinGen |
|
|
CA351931818 rs1422927608 |
559 | D>A | No |
TOPMed ClinGen |
|
| TCGA novel | 559 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 560 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2280726 rs781184639 |
563 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 564 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351931856 rs1368193788 |
565 | I>V | No |
gnomAD ClinGen |
|
|
rs1476710856 CA351931879 |
568 | K>I | No |
TOPMed ClinGen |
|
| TCGA novel | 569 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773357637 CA2280729 |
573 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA351931921 rs1321784069 |
575 | N>D | No |
TOPMed gnomAD ClinGen |
|
|
rs1321784069 CA351931920 |
575 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA351931937 rs1369207263 |
577 | S>P | No |
ClinGen gnomAD |
|
|
CA2280730 rs759344620 |
578 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA351931947 rs771953585 |
579 | V>I | No |
ExAC gnomAD ClinGen |
|
|
CA2280731 rs771953585 |
579 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1199876960 CA351931956 |
580 | E>G | No |
gnomAD ClinGen |
|
|
CA351931954 rs1317666697 |
580 | E>K | No |
TOPMed gnomAD ClinGen |
|
|
rs764129730 CA2280734 |
590 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1320680205 CA351932043 |
592 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 592 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351932056 rs1216095298 |
594 | Q>R | No |
ClinGen TOPMed |
|
|
rs1418602229 CA351932077 |
597 | G>R | No |
ClinGen gnomAD |
|
|
CA351932086 rs1277494112 |
598 | K>I | No |
TOPMed ClinGen |
|
|
rs753383069 CA2280735 |
599 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405444415 CA351932091 |
599 | E>Q | No |
TOPMed ClinGen |
|
| TCGA novel | 599 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351932098 rs1305011754 |
600 | N>D | No |
ClinGen TOPMed |
|
|
CA351932125 rs1434636659 |
603 | Q>P | No |
TOPMed ClinGen |
|
|
CA351932132 rs1172767669 |
604 | P>S | No |
gnomAD ClinGen |
|
| TCGA novel | 606 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351932148 rs1171628135 |
606 | N>S | No |
TOPMed ClinGen |
|
|
rs1266906673 CA351932152 |
607 | V>M | No |
ClinGen gnomAD |
|
|
CA351932160 rs1351111727 |
608 | P>S | No |
gnomAD ClinGen |
|
|
CA2280737 rs764919309 |
611 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs750079488 CA351932180 |
611 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs750079488 CA2280738 |
611 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA2280739 rs758074652 |
612 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs527824689 CA2280740 |
613 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1209326446 CA351932206 |
615 | C>F | No |
gnomAD ClinGen |
|
| TCGA novel | 617 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481022064 CA351932220 |
617 | E>A | No |
ClinGen TOPMed |
|
|
CA351932217 rs1290766841 |
617 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 618 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351932258 rs1233114709 |
623 | S>N | No |
TOPMed ClinGen |
|
|
rs1213982537 CA351932265 |
624 | I>F | No |
ClinGen gnomAD |
|
|
rs1213982537 CA351932264 |
624 | I>V | No |
gnomAD ClinGen |
|
|
CA2280743 rs781709527 |
625 | C>S | No |
ExAC gnomAD ClinGen |
|
|
CA2280744 rs748239322 |
626 | K>R | No |
ExAC ClinGen |
|
|
CA351932301 rs1415583388 |
629 | Q>H | No |
TOPMed gnomAD ClinGen |
|
|
rs769805096 CA2280745 |
629 | Q>P | No |
ExAC gnomAD ClinGen |
|
|
CA351932316 rs1163756974 |
631 | K>I | No |
gnomAD ClinGen |
|
|
CA351932311 rs1435900124 |
631 | K>Q | No |
TOPMed ClinGen |
|
|
CA351932315 rs1163756974 |
631 | K>R | No |
ClinGen gnomAD |
|
|
rs1028468791 CA70826807 |
634 | Q>H | No |
ClinGen TOPMed |
|
|
rs17857109 CA2280746 |
635 | V>L | No |
ClinGen ExAC gnomAD |
|
|
VAR_032508 rs17857109 CA70826808 |
635 | V>M | No |
ExAC gnomAD ClinGen UniProt dbSNP |
|
|
rs1317239524 CA351932353 |
637 | F>V | No |
ClinGen gnomAD |
|
|
rs760611923 CA2280750 |
638 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 645 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351932463 rs1255223648 |
651 | V>A | No |
gnomAD ClinGen |
|
|
rs1300368963 CA351932461 CA351932460 |
651 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2280753 rs200999126 |
657 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs1285283277 CA351932507 |
658 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1285283277 CA351932506 |
658 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs764608752 CA2280754 |
658 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866968741 CA70826809 |
659 | E>K | No |
Ensembl ClinGen |
|
|
rs749966651 CA2280755 |
660 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA351932546 rs1285592051 |
663 | D>E | No |
gnomAD ClinGen |
|
|
CA351932561 rs1219067251 |
666 | N>D | No |
ClinGen gnomAD |
|
|
rs764852278 CA70826810 |
667 | Y>H | No |
Ensembl ClinGen |
|
|
rs766089294 CA2280757 |
670 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351932648 rs1239091712 |
678 | S>N | No |
gnomAD ClinGen |
|
|
rs867342083 CA70826812 |
680 | M>L | No |
ClinGen Ensembl |
|
|
CA351932661 rs1575585915 |
680 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 681 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755385413 CA2280759 |
687 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1380535837 CA351932777 |
695 | C>F | No |
TOPMed gnomAD ClinGen |
|
|
rs1380535837 CA351932776 |
695 | C>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA2280760 rs768037659 |
700 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2280761 rs753106723 |
701 | A>G | No |
ExAC gnomAD ClinGen |
|
|
rs1559518313 CA351932839 |
704 | F>V | No |
Ensembl ClinGen |
|
|
rs867424876 CA70826813 |
707 | P>T | No |
Ensembl ClinGen |
|
| TCGA novel | 712 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777654855 CA2280763 |
715 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749389519 CA2280764 |
718 | F>V | No |
ExAC gnomAD ClinGen |
|
|
rs990195603 CA70826814 |
719 | R>K | No |
ClinGen Ensembl |
|
|
rs1342720771 CA351932957 |
721 | N>D | No |
gnomAD ClinGen |
|
|
rs1354486648 CA351933015 |
729 | R>P | No |
ClinGen gnomAD |
|
|
rs1354486648 CA351933014 |
729 | R>Q | No |
gnomAD ClinGen |
|
|
CA351933030 rs1242645745 |
732 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768607092 CA2280768 |
737 | V>D | No |
ExAC gnomAD ClinGen |
|
|
rs267599681 CA70826815 |
738 | S>F | No |
Ensembl ClinGen |
|
|
CA70826817 VAR_032509 rs17857110 |
742 | A>V | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1204058490 CA351933133 |
746 | D>G | No |
TOPMed ClinGen |
|
|
rs1440979950 CA351933209 |
758 | I>V | No |
ClinGen gnomAD |
|
|
rs138785787 CA2280770 |
766 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351933273 rs1465863432 |
767 | P>T | No |
ClinGen gnomAD |
|
|
rs1336405483 CA351933298 |
770 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 773 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2280772 rs772595314 |
773 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2280773 rs139055398 |
773 | G>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 776 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2280774 rs765997206 |
776 | G>V | No |
ExAC gnomAD ClinGen |
|
|
rs1575586074 CA351933338 |
777 | D>N | No |
ClinGen Ensembl |
|
|
CA2280775 rs774032875 |
784 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2280776 rs759220663 |
785 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA70826821 rs866374031 |
786 | E>K | No |
Ensembl ClinGen |
|
| TCGA novel | 789 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA70826822 rs1047508244 |
790 | I>T | No |
ClinGen Ensembl |
|
|
CA70826823 rs866840344 |
791 | P>L | No |
ClinGen Ensembl |
|
|
rs1257614788 CA351933454 |
794 | C>Y | No |
ClinGen gnomAD |
|
|
rs1197991789 CA351933475 |
797 | Q>R | No |
gnomAD ClinGen |
|
|
CA2280780 rs764729696 |
801 | T>A | No |
ExAC gnomAD ClinGen |
|
|
CA2280781 rs753953820 |
802 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2280782 rs192887335 |
805 | N>S | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs907653243 CA70826824 |
807 | D>G | No |
Ensembl ClinGen |
|
|
CA70826825 rs148180373 |
808 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1170634327 CA351933550 |
808 | A>V | No |
ClinGen gnomAD |
|
|
CA70826826 VAR_032510 rs17853612 |
809 | P>H | No |
Ensembl ClinGen UniProt dbSNP |
|
|
CA2280785 rs756612166 |
810 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 810 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 812 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2280786 rs141376640 |
818 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA70826827 rs141376640 |
818 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1390105534 CA351933627 |
819 | I>T | No |
gnomAD ClinGen |
|
|
rs748045268 CA2280787 |
819 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1575586172 CA351933633 |
820 | N>T | No |
Ensembl ClinGen |
|
|
CA351933643 rs1387622051 |
822 | P>S | No |
gnomAD ClinGen |
|
|
rs941681624 CA70826829 |
825 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 827 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351933690 rs1465938143 |
829 | F>I | No |
TOPMed ClinGen |
|
|
rs183900333 CA2280790 |
829 | F>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA2280791 rs748767130 |
830 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA70826830 rs112342957 |
835 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
Ensembl ClinGen NCI-TCGA |
| TCGA novel | 836 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770388367 CA2280792 |
836 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1160620708 CA351933745 |
837 | I>T | No |
ClinGen TOPMed |
|
|
rs1037396790 CA70826831 |
842 | I>V | No |
Ensembl ClinGen |
|
|
rs759132763 CA2280794 |
843 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566259350 CA2280795 |
846 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351933818 rs1424976745 |
848 | P>A | No |
ClinGen gnomAD |
|
|
CA70826832 rs866319922 |
850 | E>D | No |
Ensembl ClinGen |
|
|
CA351933862 rs1163280857 |
854 | T>A | No |
TOPMed gnomAD ClinGen |
|
|
CA2280796 rs775711732 |
854 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351933861 rs1163280857 |
854 | T>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 855 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351933875 rs1575586260 |
856 | Y>S | No |
Ensembl ClinGen |
|
|
CA2280797 rs761159061 |
857 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2280798 rs745837167 |
857 | R>H | No |
ExAC gnomAD ClinGen |
|
|
rs997069570 CA70826833 |
858 | H>R | No |
ClinGen Ensembl |
|
|
CA2280800 rs762437476 |
860 | P>A | No |
ExAC gnomAD ClinGen |
|
|
CA2280802 rs750540622 |
862 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
rs1246289605 CA351933926 |
864 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
rs1258597071 CA351933928 |
865 | T>A | No |
gnomAD ClinGen |
|
| TCGA novel | 866 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2280804 rs367652304 |
868 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351933947 rs367652304 |
868 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2280805 rs367652304 |
868 | V>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs755980730 CA2280806 |
870 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351933964 rs1264421512 |
871 | H>Y | No |
gnomAD ClinGen |
|
|
CA351934001 rs1256026437 |
876 | V>A | No |
gnomAD ClinGen |
|
|
CA2280807 rs777576549 |
876 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2280810 rs140113907 |
877 | H>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs749175183 CA2280808 |
877 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351934009 rs745447059 |
878 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2280811 rs745447059 |
878 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163859869 CA351934013 |
879 | A>T | No |
TOPMed ClinGen |
|
|
rs1008390082 CA70826835 |
880 | I>V | No |
Ensembl ClinGen |
|
|
rs771610885 CA2280812 |
881 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs535603188 CA70826836 |
882 | N>D | No |
Ensembl ClinGen |
|
|
rs760913644 CA2280814 |
883 | R>Q | Variant assessed as Somatic; 0.0003696 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs1302214480 CA351934051 |
885 | G>E | No |
gnomAD ClinGen |
|
|
rs762349581 CA2280817 |
890 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_032511 CA70826837 rs17853613 |
890 | H>R | No |
Ensembl ClinGen UniProt dbSNP |
|
|
CA351934094 rs1240487986 |
892 | R>G | No |
ClinGen gnomAD |
|
|
CA351934096 rs1429117888 |
892 | R>K | No |
ClinGen TOPMed |
|
|
rs1287685056 CA351934099 |
892 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 897 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255939157 CA351934127 |
897 | R>K | No |
ClinGen gnomAD |
|
|
CA351934136 rs1483900472 |
898 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA70826840 rs868068042 |
899 | G>E | No |
Ensembl ClinGen |
|
| TCGA novel | 899 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2280819 rs750520014 |
900 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA351934157 rs1262507172 |
901 | K>R | No |
TOPMed ClinGen |
|
|
rs766483081 CA2280821 |
907 | S>P | No |
ExAC gnomAD ClinGen |
|
|
CA2280823 rs755177464 |
910 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244505624 CA351934233 |
912 | W>C | No |
ClinGen TOPMed |
|
|
rs753636224 CA2280825 |
915 | T>I | No |
ExAC gnomAD ClinGen |
|
|
CA2280826 rs149890604 |
916 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 916 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351934270 rs1468356941 |
918 | E>A | No |
gnomAD ClinGen |
|
|
CA2280830 rs575878810 |
926 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2280831 rs575878810 |
926 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70826841 rs774157865 |
927 | I>V | No |
TOPMed gnomAD ClinGen |
|
|
rs1218269184 CA351934335 |
928 | R>G | No |
TOPMed gnomAD ClinGen |
|
|
CA70826842 rs201437930 |
928 | R>Q | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
CA351934336 rs1218269184 |
928 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA351934342 rs1249970978 |
929 | D>A | No |
ClinGen Ensembl |
|
|
CA351934339 rs1206165276 |
929 | D>N | No |
TOPMed gnomAD ClinGen |
|
|
rs868260536 CA70826843 |
930 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 932 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351934366 rs1575586529 |
933 | L>M | No |
ClinGen Ensembl |
|
|
CA351934392 rs1288665628 |
936 | N>K | No |
TOPMed gnomAD ClinGen |
|
|
rs999604473 CA351934394 |
937 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs999604473 CA70826844 |
937 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1323831325 CA351934426 |
939 | N>S | No |
ClinGen gnomAD |
|
|
CA2280851 rs146980015 |
940 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs536341230 CA2280852 |
940 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1254310387 CA351934434 |
941 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
CA351934440 rs1340293365 |
942 | V>M | No |
gnomAD ClinGen |
|
| TCGA novel | 950 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774486547 CA2280856 |
951 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA70827100 rs867225915 |
955 | N>S | No |
ClinGen Ensembl |
|
|
CA2280857 rs759668469 |
956 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1195270687 CA351934539 |
957 | M>K | No |
gnomAD ClinGen |
|
|
rs1235628325 CA351934554 |
959 | C>R | No |
gnomAD ClinGen |
|
|
rs1023444637 CA70827101 |
959 | C>S | No |
TOPMed gnomAD ClinGen |
|
|
rs767703002 CA2280858 CA351934566 |
960 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775729111 CA2280859 |
962 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs1157642959 CA351934586 |
964 | S>T | No |
ClinGen gnomAD |
|
|
RCV000956075 rs74332311 CA2280861 |
965 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1430864247 CA351934599 |
966 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 966 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351934608 rs1308240062 |
967 | F>C | No |
gnomAD ClinGen |
|
|
CA70827103 rs139006028 |
971 | D>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2280865 rs139006028 |
971 | D>N | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs780884104 CA2280867 |
973 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs747758106 CA2280868 |
974 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA2280869 rs755845125 |
976 | V>A | No |
ExAC gnomAD ClinGen |
|
|
CA351934659 rs1354191870 |
976 | V>M | No |
gnomAD ClinGen |
|
|
rs866276568 CA70827104 |
982 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA351934708 rs1188160751 |
983 | Q>H | No |
ClinGen gnomAD |
|
|
rs1268568351 CA351934719 |
985 | P>A | No |
TOPMed ClinGen |
|
|
rs1368141291 CA351934723 |
985 | P>L | No |
gnomAD ClinGen |
|
|
CA2280871 rs749682737 |
987 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1177650173 CA351934743 |
988 | E>V | No |
ClinGen gnomAD |
|
|
rs771458168 CA2280872 |
993 | V>A | No |
ExAC gnomAD ClinGen |
|
|
rs1372120688 CA351934782 |
994 | P>L | No |
ClinGen TOPMed |
|
|
CA2280875 rs575934680 |
1001 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1393178012 CA351934831 |
1002 | T>A | No |
TOPMed ClinGen |
|
|
CA351934838 rs1400495331 |
1003 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1003 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444609482 CA351934862 |
1006 | M>R | No |
TOPMed gnomAD ClinGen |
|
|
CA351934861 rs1444609482 |
1006 | M>T | No |
TOPMed gnomAD ClinGen |
|
|
CA2280877 rs142852733 |
1006 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1227957744 CA351934879 |
1007 | M>V | No |
TOPMed gnomAD ClinGen |
|
|
rs748264921 CA2280914 |
1009 | Q>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA2280916 rs566607335 |
1012 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351934920 rs1380774490 |
1013 | A>T | No |
TOPMed ClinGen |
|
|
rs745717465 CA2280917 |
1013 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs775606194 CA2280919 |
1015 | I>T | No |
ExAC gnomAD ClinGen |
|
|
CA2280920 rs760695821 |
1016 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA70830073 rs942160337 |
1020 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1367950530 CA351934972 |
1021 | V>I | No |
gnomAD ClinGen |
|
|
rs763462309 CA2280921 |
1022 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70830074 rs866664577 |
1023 | E>K | No |
ClinGen TOPMed |
|
|
rs1247911121 CA351934993 |
1024 | K>E | No |
ClinGen gnomAD |
|
|
rs776218297 CA2280922 |
1026 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA351935016 rs1369577070 |
1027 | H>R | No |
ClinGen TOPMed |
|
|
CA351935012 rs1418827208 |
1027 | H>Y | No |
gnomAD ClinGen |
|
|
CA351935023 rs761300801 |
1028 | C>S | No |
ExAC gnomAD ClinGen |
|
|
CA2280923 rs761300801 |
1028 | C>Y | No |
ExAC gnomAD ClinGen |
|
|
rs774670711 CA70832665 |
1034 | E>G | No |
TOPMed gnomAD ClinGen |
|
|
CA2280945 rs150510502 |
1036 | H>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA2280946 rs751958876 |
1037 | E>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 1040 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA70832666 rs1005152477 |
1042 | I>V | No |
ClinGen Ensembl |
|
|
CA351935149 rs1177968835 |
1043 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1043 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409956267 CA351935151 |
1044 | T>A | No |
ClinGen gnomAD |
|
|
CA351935186 rs1431184053 |
1049 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 1049 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351935243 rs1429830602 |
1056 | A>V | No |
gnomAD ClinGen |
|
|
rs1470677566 CA351935261 |
1059 | S>N | No |
ClinGen gnomAD |
|
|
CA2280951 rs778028585 |
1061 | T>A | No |
ExAC gnomAD ClinGen |
|
|
rs754060993 CA2280952 |
1066 | I>V | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 1073 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA70835046 rs757441003 |
1073 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 1085 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748023057 CA2280977 |
1086 | K>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1386638056 CA351935478 |
1088 | I>V | No |
gnomAD ClinGen |
|
|
rs769728195 CA2280978 |
1090 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157288288 CA351935499 |
1091 | A>T | No |
ClinGen gnomAD |
|
|
rs777260422 CA2280979 |
1093 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351935511 rs777260422 |
1093 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351935521 rs1408242756 |
1094 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed ClinGen NCI-TCGA |
|
CA2280981 rs770551910 |
1095 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351935524 rs1357519485 |
1095 | C>Y | No |
ClinGen gnomAD |
|
|
rs774096899 CA2280982 |
1102 | T>N | No |
ClinGen ExAC |
|
|
rs772431081 CA2280985 |
1103 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772431081 CA2280984 |
1103 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1030151799 CA70835047 |
1105 | A>P | No |
ClinGen Ensembl |
|
|
CA351935591 rs1385184376 |
1105 | A>V | No |
ClinGen gnomAD |
|
|
rs761194678 CA2280986 |
1106 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs764761014 CA2280987 |
1107 | V>I | No |
ExAC gnomAD ClinGen |
|
|
rs1225418351 CA351935621 |
1110 | P>A | No |
gnomAD ClinGen |
|
|
rs753953891 CA2280988 |
1111 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs141417927 CA2280989 |
1111 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753953891 CA351935627 |
1111 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs750617511 CA2280991 |
1112 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2280990 rs765344705 |
1112 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA351935656 rs1456219188 |
1116 | V>I | No |
gnomAD ClinGen |
|
|
CA2280992 rs758564737 |
1117 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs144997343 CA2280994 |
1118 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2280993 rs767276937 |
1118 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA351935672 rs1559295100 |
1119 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA351935687 rs1361057748 |
1120 | K>N | No |
gnomAD ClinGen |
|
| TCGA novel | 1121 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2280996 rs777741829 |
1122 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA2280998 rs144964120 |
1123 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA351935725 rs1444911021 |
1126 | G>E | No |
gnomAD ClinGen |
|
|
CA351935729 rs1351165280 |
1127 | E>* | No |
ClinGen gnomAD |
|
|
rs60111091 CA2280999 RCV000946716 |
1128 | E>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
No associated diseases with Q9UPR0
6 regional properties for Q9UPR0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 734 - 863 | IPR000008 |
| domain | Phosphatidylinositol-specific phospholipase C, X domain | 426 - 571 | IPR000909 |
| domain | Phospholipase C, phosphatidylinositol-specific, Y domain | 618 - 734 | IPR001711 |
| domain | Pleckstrin homology domain | 137 - 253 | IPR001849 |
| domain | Phosphoinositide-specific phospholipase C, EF-hand-like domain | 336 - 419 | IPR015359 |
| domain | Inactive phospholipase C-like protein 2, EF-hand domain | 271 - 414 | IPR028382 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| GABA receptor binding | Binding to a gamma-aminobutyric acid (GABA, 4-aminobutyrate) receptor. |
| inositol 1,4,5 trisphosphate binding | Binding to inositol 1,4,5 trisphosphate. |
| phosphatidylinositol phospholipase C activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1,2-diacylglycerol + 1D-myo-inositol 1,4,5-trisphosphate + H(+). |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| B cell proliferation involved in immune response | The expansion of a B cell population by cell division following B cell activation during an immune response. |
| B-1a B cell differentiation | The process in which B cells acquire the specialized features of B-1a B cells. B-1a B cells are B-1 cells that express CD5 and arise from fetal liver precursors. |
| gamma-aminobutyric acid signaling pathway | The series of molecular signals generated by the binding of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms, to its receptor on the surface of a target cell. |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| negative regulation of B cell receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of signaling pathways initiated by the cross-linking of an antigen receptor on a B cell. |
| negative regulation of cold-induced thermogenesis | Any process that stops, prevents, or reduces the rate of cold-induced thermogenesis. |
| phosphatidylinositol-mediated signaling | The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives. |
| positive regulation of receptor binding | Any process that activates or increases the frequency, rate or extent of a protein or other molecule binding to a receptor. |
| regulation of synaptic transmission, GABAergic | Any process that modulates the frequency, rate or extent of GABAergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter gamma-aminobutyric acid (GABA). |
31 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P32383 | PLC1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q1RML2 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Bos taurus (Bovine) | PR |
| P10895 | PLCD1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Bos taurus (Bovine) | SS |
| Q2VRL0 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Gallus gallus (Chicken) | PR |
| Q15111 | PLCL1 | Inactive phospholipase C-like protein 1 | Homo sapiens (Human) | PR |
| Q86YW0 | PLCZ1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Homo sapiens (Human) | PR |
| Q8N3E9 | PLCD3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 | Homo sapiens (Human) | SS |
| Q9BRC7 | PLCD4 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 | Homo sapiens (Human) | SS |
| P16885 | PLCG2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 | Homo sapiens (Human) | SS |
| P19174 | PLCG1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 | Homo sapiens (Human) | EV |
| Q00722 | PLCB2 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 | Homo sapiens (Human) | EV |
| Q01970 | PLCB3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 | Homo sapiens (Human) | EV |
| Q9NQ66 | PLCB1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 | Homo sapiens (Human) | EV |
| Q9P212 | PLCE1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Homo sapiens (Human) | SS |
| P51178 | PLCD1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Homo sapiens (Human) | EV |
| Q15147 | PLCB4 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 | Homo sapiens (Human) | PR |
| Q8R3B1 | Plcd1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Mus musculus (Mouse) | SS |
| Q8K2J0 | Plcd3 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 | Mus musculus (Mouse) | PR |
| Q8K4S1 | Plce1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Mus musculus (Mouse) | SS |
| Q8K394 | Plcl2 | Inactive phospholipase C-like protein 2 | Mus musculus (Mouse) | PR |
| Q7YRU3 | PLCZ | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 | Sus scrofa (Pig) | PR |
| P10688 | Plcd1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 | Rattus norvegicus (Rat) | SS |
| Q99P84 | Plce1 | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 | Rattus norvegicus (Rat) | EV |
| Q8GV43 | PLC6 | Phosphoinositide phospholipase C 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q944C2 | PLC5 | Phosphoinositide phospholipase C 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6NMA7 | PLC9 | Phosphoinositide phospholipase C 9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9STZ3 | PLC8 | Phosphoinositide phospholipase C 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q56W08 | PLC3 | Phosphoinositide phospholipase C 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39032 | PLC1 | Phosphoinositide phospholipase C 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q944C1 | PLC4 | Phosphoinositide phospholipase C 4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| A5D6R3 | plcd3a | 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3-A | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAECGRGGAA | GGALPTSPGP | ALGAKGALKA | GVGEGGGGGG | RLGHGRARYD | SGGVSNGDCS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LGVSGDEARA | SPTRGPRGVA | LAPTPSAVVC | TLPRESKPGG | LPRRSSIIKD | GTKQKRERKK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TVSFSSMPTE | KKISSASDCI | NSMVEGSELK | KVRSNSRIYH | RYFLLDADMQ | SLRWEPSKKD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SEKAKIDIKS | IKEVRTGKNT | DIFRSNGISD | QISEDCAFSV | IYGENYESLD | LVANSADVAN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IWVTGLRYLI | SYGKHTLDML | ESSQDNMRTS | WVSQMFSEID | VDNLGHITLC | NAVQCIRNLN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PGLKTSKIEL | KFKELHKSKD | KAGTEVTKEE | FIEVFHELCT | RPEIYFLLVQ | FSSNKEFLDT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KDLMMFLEAE | QGVAHINEEI | SLEIIHKYEP | SKEGQEKGWL | SIDGFTNYLM | SPDCYIFDPE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HKKVCQDMKQ | PLSHYFINSS | HNTYLIEDQF | RGPSDITGYI | RALKMGCRSV | ELDVWDGPDN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EPVIYTGHTM | TSQIVFRSVI | DIINKYAFFA | SEYPLILCLE | NHCSIKQQKV | MVQHMKKLLG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DKLYTTSPNV | EESYLPSPDV | LKGKILIKAK | KLSSNCSGVE | GDVTDEDEGA | EMSQRMGKEN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| MEQPNNVPVK | RFQLCKELSE | LVSICKSVQF | KEFQVSFQVQ | KYWEVCSFNE | VLASKYANEN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PGDFVNYNKR | FLARVFPSPM | RIDSSNMNPQ | DFWKCGCQIV | AMNFQTPGLM | MDLNIGWFRQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NGNCGYVLRP | AIMREEVSFF | SANTKDSVPG | VSPQLLHIKI | ISGQNFPKPK | GSGAKGDVVD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PYVYVEIHGI | PADCAEQRTK | TVHQNGDAPI | FDESFEFQIN | LPELAMVRFV | VLDDDYIGDE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| FIGQYTIPFE | CLQTGYRHVP | LQSLTGEVLA | HASLFVHVAI | TNRRGGGKPH | KRGLSVRKGK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| KSREYASLRT | LWIKTVDEVF | KNAQPPIRDA | TDLRENMQNA | VVSFKELCGL | SSVANLMQCM |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LAVSPRFLGP | DNTPLVVLNL | SEQYPTMELQ | GIVPEVLKKI | VTTYDMMIQS | LKALIENADA |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| VYEKIVHCQK | AAMEFHEHLH | SIGTKEGLKE | RKLQKAVESF | TWNITILKGQ | ADLLKYAKNE |
| 1090 | 1100 | 1110 | 1120 | ||
| TLENLKQIHF | AAVSCGLNKP | GTENADVQKP | RRSLEVIPEK | ANDETGE |