P0CF97
PR
Gene name |
FAM200B |
Protein name |
Protein FAM200B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:285550 |
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 P0CF97
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P0CF97-F1 | Predicted | AlphaFoldDB |
466 variants for P0CF97
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2865066 rs2302469 |
2 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356431817 rs1421300504 |
3 | H>D | No |
ClinGen TOPMed |
|
|
rs573901800 CA92559979 |
3 | H>R | No |
ClinGen Ensembl |
|
|
rs956416918 CA92559980 |
4 | F>V | No |
ClinGen TOPMed |
|
|
CA92559981 rs979599458 |
5 | F>C | No |
ClinGen Ensembl |
|
|
CA356431864 rs1185347275 |
6 | I>L | No |
ClinGen gnomAD |
|
|
CA356431862 rs1185347275 |
6 | I>V | No |
ClinGen gnomAD |
|
|
CA92559993 rs528044752 |
7 | K>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs767601302 CA2865067 |
8 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1485823641 CA356431913 |
9 | K>* | No |
ClinGen TOPMed |
|
|
rs1158925308 CA356431971 |
12 | S>I | No |
ClinGen gnomAD |
|
|
rs1158925308 CA356431970 |
12 | S>N | No |
ClinGen gnomAD |
|
|
CA356432059 rs1468075506 |
17 | T>A | No |
ClinGen gnomAD |
|
|
CA356432069 rs1303888886 |
17 | T>I | No |
ClinGen gnomAD |
|
|
rs761315441 CA92560008 |
18 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 18 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1412940669 CA356432102 |
19 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs750332593 CA2865070 |
19 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412940669 CA356432104 |
19 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs74832535 CA2865071 |
21 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356432170 rs1319608241 |
24 | S>F | No |
ClinGen TOPMed |
|
|
rs1306082819 CA356432177 |
25 | V>A | No |
ClinGen gnomAD |
|
|
rs1223400659 CA356432174 |
25 | V>F | No |
ClinGen gnomAD |
|
|
rs1223400659 CA356432171 |
25 | V>I | No |
ClinGen gnomAD |
|
|
rs1228466004 CA356432245 |
32 | S>G | No |
ClinGen TOPMed |
|
|
CA356432290 rs1485064218 |
35 | I>T | No |
ClinGen gnomAD |
|
|
CA92560034 rs931351413 |
38 | N>T | No |
ClinGen TOPMed |
|
|
rs754007207 CA2865073 |
39 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA92560049 rs1048389305 |
40 | D>N | No |
ClinGen TOPMed |
|
|
CA2865075 rs779091941 |
41 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA92560060 rs1036273051 |
44 | Q>* | No |
ClinGen Ensembl |
|
|
rs1435239549 CA356432401 |
47 | T>P | No |
ClinGen gnomAD |
|
|
rs919091639 CA92560067 |
48 | S>L | No |
ClinGen TOPMed |
|
|
CA356432416 rs1394946136 |
49 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1433396947 CA356432424 |
50 | E>G | No |
ClinGen gnomAD |
|
|
CA356432434 rs1309980584 |
52 | H>Y | No |
ClinGen gnomAD |
|
|
CA92560077 rs930442007 |
54 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA356432474 rs1296623323 |
56 | K>E | No |
ClinGen gnomAD |
|
|
CA356432477 rs1370909701 |
56 | K>R | No |
ClinGen gnomAD |
|
|
rs1303864112 CA356432497 |
57 | K>N | No |
ClinGen gnomAD |
|
|
rs866540261 CA92560086 |
61 | R>K | No |
ClinGen Ensembl |
|
|
CA2865078 rs758445034 |
62 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569589549 CA2865079 |
62 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356432549 rs758445034 |
62 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA92560103 rs1002721296 |
64 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA356432576 rs1002721296 |
64 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2865080 rs747505680 |
66 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489679411 CA356432647 |
69 | K>* | No |
ClinGen gnomAD |
|
|
rs1394824159 CA356432693 |
72 | F>Y | No |
ClinGen gnomAD |
|
|
CA92560104 rs895965916 |
73 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2865081 rs771216772 |
78 | P>S | No |
ClinGen ExAC |
|
|
rs1409380586 CA356432844 |
82 | D>E | No |
ClinGen gnomAD |
|
|
rs1553859871 CA356432864 |
84 | P>T | No |
ClinGen Ensembl |
|
|
CA356432888 rs1168615801 |
86 | C>S | No |
ClinGen gnomAD |
|
|
rs1056454427 CA92560106 |
92 | I>N | No |
ClinGen Ensembl |
|
|
CA2865082 rs776987984 |
93 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356432993 rs1393072457 |
94 | A>T | No |
ClinGen TOPMed |
|
|
rs778428134 CA92560119 |
94 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356433016 rs1560263449 |
95 | N>S | No |
ClinGen Ensembl |
|
|
CA356433023 rs1560263470 |
96 | E>K | No |
ClinGen Ensembl |
|
|
rs1009818963 CA92560129 |
97 | S>T | No |
ClinGen TOPMed |
|
|
CA356433086 rs1172975420 |
100 | P>S | No |
ClinGen TOPMed |
|
|
CA92560138 rs570604397 |
101 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs570604397 CA356433102 |
101 | S>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA356433176 rs1213417965 |
106 | H>Q | No |
ClinGen gnomAD |
|
|
CA356433191 rs1270258545 |
107 | L>* | No |
ClinGen gnomAD |
|
|
CA92560152 rs904749995 |
109 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1190270966 CA356433238 |
111 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA356433240 rs1190270966 |
111 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1031933569 CA92560186 |
113 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1252785453 CA356433264 |
113 | E>G | No |
ClinGen gnomAD |
|
|
CA356433278 rs1159173114 |
114 | L>I | No |
ClinGen gnomAD |
|
|
rs754645672 CA92560208 |
116 | D>G | No |
ClinGen gnomAD |
|
|
CA356433322 rs1243138449 |
118 | P>L | No |
ClinGen gnomAD |
|
|
rs1399414975 CA356433346 |
120 | E>* | No |
ClinGen gnomAD |
|
|
rs1167401458 CA356433371 |
122 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA356433379 rs1350828329 |
122 | F>L | No |
ClinGen gnomAD |
|
|
rs1436100691 CA356433383 |
123 | Q>K | No |
ClinGen gnomAD |
|
|
CA356433385 rs1301537592 |
123 | Q>P | No |
ClinGen gnomAD |
|
|
rs1352485198 CA356433396 |
124 | R>K | No |
ClinGen gnomAD |
|
|
CA92560224 rs987832857 |
128 | D>N | No |
ClinGen TOPMed |
|
|
rs774127131 CA92560248 |
129 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393499163 CA356433495 |
129 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs774127131 CA2865088 |
129 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356433516 rs1577544490 |
132 | S>L | No |
ClinGen Ensembl |
|
|
CA356433512 rs1322484850 |
132 | S>P | No |
ClinGen gnomAD |
|
|
CA356433521 rs1560263771 |
133 | T>I | No |
ClinGen Ensembl |
|
|
CA356433524 rs1333447268 |
134 | Q>E | No |
ClinGen TOPMed |
|
|
CA356433532 rs1429898762 |
135 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA356433544 rs1267948260 |
136 | L>I | No |
ClinGen gnomAD |
|
|
CA92560253 rs953138749 |
138 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1221388869 CA356433605 |
142 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1211028463 CA356433620 |
143 | S>I | No |
ClinGen gnomAD |
|
|
CA356433624 rs1289149635 |
143 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356433619 rs1211028463 |
143 | S>T | No |
ClinGen gnomAD |
|
|
rs1235982404 CA356433648 |
146 | A>T | No |
ClinGen TOPMed |
|
|
rs1191641892 CA356433693 |
150 | S>* | No |
ClinGen gnomAD |
|
|
rs1191641892 CA356433692 |
150 | S>L | No |
ClinGen gnomAD |
|
|
rs1475555076 CA356433715 |
152 | L>* | No |
ClinGen gnomAD |
|
|
rs1187503763 CA356433735 |
154 | A>V | No |
ClinGen gnomAD |
|
|
rs771657217 CA2865093 |
155 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs984156836 CA92560269 |
155 | Y>H | No |
ClinGen TOPMed |
|
|
COSM1594392 rs1560264044 CA356433749 |
156 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs986314609 CA92560283 |
156 | R>H | No |
ClinGen gnomAD |
|
|
rs986314609 CA92560290 |
156 | R>P | No |
ClinGen gnomAD |
|
|
CA2865094 rs201952994 |
157 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356433772 rs1577544889 |
159 | K>E | No |
ClinGen Ensembl |
|
|
CA92560318 rs966143544 |
167 | A>S | No |
ClinGen Ensembl |
|
|
CA356433906 rs1162011059 |
171 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1398287813 CA356433936 |
174 | A>V | No |
ClinGen TOPMed |
|
|
CA356433943 rs1292114905 |
175 | C>Y | No |
ClinGen gnomAD |
|
|
rs1229821913 CA356433985 |
178 | M>I | No |
ClinGen gnomAD |
|
|
CA356433977 rs1353246294 |
178 | M>V | No |
ClinGen gnomAD |
|
|
CA356433989 rs1280560834 |
179 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs141207646 CA2865097 |
180 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs571879184 CA2865098 |
180 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486048796 CA356434016 |
181 | T>I | No |
ClinGen gnomAD |
|
|
rs759300807 CA2865099 |
181 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1210332728 CA356434036 |
182 | I>M | No |
ClinGen gnomAD |
|
|
rs930546445 CA92560328 |
183 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1367358890 CA356434044 |
183 | F>S | No |
ClinGen TOPMed |
|
|
CA356434062 rs1184855257 |
184 | D>A | No |
ClinGen TOPMed |
|
|
CA356434082 rs1484187188 |
185 | D>V | No |
ClinGen gnomAD |
|
|
rs895858092 CA92560333 |
188 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA356434153 rs1553860075 |
189 | D>A | No |
ClinGen Ensembl |
|
|
CA356434175 rs1215556645 |
190 | K>R | No |
ClinGen TOPMed |
|
|
CA92560334 rs948933034 |
193 | T>I | No |
ClinGen TOPMed |
|
|
CA2865100 CA2865101 rs765481474 |
194 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356434251 rs1156754106 |
195 | P>A | No |
ClinGen gnomAD |
|
|
CA92560335 rs866713180 |
195 | P>L | No |
ClinGen Ensembl |
|
|
COSM3660958 CA356434295 rs1396872760 |
199 | T>A | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA356434327 rs1435251553 |
201 | S>F | No |
ClinGen gnomAD |
|
|
rs904780370 CA92560337 COSM1485797 |
203 | R>* | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA2865102 rs143515975 |
203 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1392798453 CA356434398 |
206 | T>A | No |
ClinGen gnomAD |
|
|
rs554560065 CA2865103 |
207 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs77356170 CA2865104 |
208 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA92560351 rs1056913619 |
210 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1349319587 CA356434476 |
212 | E>A | No |
ClinGen gnomAD |
|
|
CA92560355 rs892119535 |
213 | T>I | No |
ClinGen TOPMed |
|
|
CA2865107 rs746286746 |
214 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2865105 rs757851157 |
214 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2865106 rs781539602 |
214 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757851157 CA356434491 |
214 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160885249 CA356434502 |
215 | L>F | No |
ClinGen TOPMed |
|
|
CA356434518 rs1553860125 |
217 | T>N | No |
ClinGen Ensembl |
|
|
COSM3428278 rs373297619 CA92560375 |
218 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1436275055 CA356434530 |
218 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs770242469 CA2865108 |
221 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA356434589 rs1185937324 |
224 | D>G | No |
ClinGen Ensembl |
|
|
CA356434630 rs1192898853 |
227 | I>M | No |
ClinGen TOPMed |
|
|
rs778729707 CA2865109 |
227 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 229 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356434651 rs1454697930 |
229 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1172887063 CA356434655 |
230 | D>N | No |
ClinGen gnomAD |
|
|
CA2865110 rs747744015 |
232 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1463015987 CA356434695 |
233 | T>A | No |
ClinGen gnomAD |
|
|
rs1168151680 CA356434701 |
233 | T>S | No |
ClinGen gnomAD |
|
|
CA356434723 rs1217150957 |
235 | I>F | No |
ClinGen TOPMed |
|
|
CA2865111 rs771486597 |
235 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356434751 rs1389317575 |
237 | S>R | No |
ClinGen gnomAD |
|
|
rs1328394692 CA356434763 |
239 | T>A | No |
ClinGen gnomAD |
|
|
CA2865112 rs751473769 |
240 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356434784 rs1301790545 |
242 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 243 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1042398618 COSM1427571 CA92560401 |
248 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA92560438 rs537374057 |
249 | W>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA356434849 rs1392377350 |
251 | D>G | No |
ClinGen gnomAD |
|
|
rs952647923 CA92560444 |
251 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA356434853 rs1348883058 |
252 | D>N | No |
ClinGen TOPMed |
|
|
CA356434872 rs1192940184 |
254 | L>S | No |
ClinGen gnomAD |
|
| rs1251004707 | 258 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 258 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356434958 rs1371966688 |
266 | H>D | No |
ClinGen gnomAD |
|
|
CA356434959 rs1371966688 |
266 | H>Y | No |
ClinGen gnomAD |
|
|
rs1395676496 CA356435003 |
272 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1166596393 CA356435000 |
272 | I>V | No |
ClinGen gnomAD |
|
|
CA2865115 rs770947351 |
275 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA356435038 rs1425691733 |
275 | E>G | No |
ClinGen TOPMed |
|
|
rs1416248303 CA356435061 |
277 | E>* | No |
ClinGen gnomAD |
|
|
rs776399933 CA356435080 |
278 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1427575 CA2865117 rs141613449 |
279 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs577325145 CA2865118 |
279 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA92560489 rs577325145 |
279 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356435117 rs1324707982 |
282 | G>D | No |
ClinGen gnomAD |
|
|
CA356435113 rs1295004140 |
282 | G>R | No |
ClinGen gnomAD |
|
|
rs1235408753 CA356435128 |
283 | Q>P | No |
ClinGen gnomAD |
|
|
rs1294063712 CA356435140 |
284 | Y>H | No |
ClinGen gnomAD |
|
|
CA356435177 rs1212901486 |
286 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs546381389 CA2865120 |
289 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs965813352 CA92560507 |
290 | N>S | No |
ClinGen TOPMed |
|
|
rs1260471119 CA356435239 |
291 | C>Y | No |
ClinGen gnomAD |
|
|
rs745596046 CA2865121 |
292 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418194979 CA356435268 |
293 | G>V | No |
ClinGen gnomAD |
|
|
CA356435275 rs1474671784 |
294 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1577546267 CA356435283 |
294 | I>T | No |
ClinGen Ensembl |
|
|
CA92560523 rs1025914532 |
295 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1025914532 CA356435289 |
295 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1347295725 CA356435301 |
296 | S>R | No |
ClinGen gnomAD |
|
|
CA356435298 rs1277019565 |
296 | S>T | No |
ClinGen TOPMed |
|
|
CA2865122 rs751719895 |
297 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 298 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356435341 rs1371360159 |
299 | T>I | No |
ClinGen TOPMed |
|
|
CA356435371 rs1416639952 |
301 | T>I | No |
ClinGen gnomAD |
|
|
rs984640072 CA92560540 |
303 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1355136733 CA356435482 |
310 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 312 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356435528 rs1231653352 |
313 | L>S | No |
ClinGen gnomAD |
|
|
CA356435536 rs1220472281 |
314 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1310378158 CA356435623 |
320 | G>A | No |
ClinGen gnomAD |
|
|
rs1422772826 CA356435616 |
320 | G>S | No |
ClinGen TOPMed |
|
|
rs1278682547 CA356435681 |
324 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356435675 rs1239685252 |
324 | N>Y | No |
ClinGen gnomAD |
|
|
rs1560265301 CA356435694 |
325 | H>R | No |
ClinGen Ensembl |
|
|
rs1260013085 CA356435691 |
325 | H>Y | No |
ClinGen gnomAD |
|
|
rs1484844874 CA356435700 |
326 | C>S | No |
ClinGen gnomAD |
|
|
rs202198770 CA2865125 |
327 | F>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1250359914 CA356435732 |
330 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA356435733 rs539394364 |
330 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA92560559 rs539394364 |
330 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1485165996 CA356435766 |
335 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 335 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356435768 rs1185280744 |
336 | R>G | No |
ClinGen gnomAD |
|
|
rs1410656785 CA356435801 |
340 | Q>R | No |
ClinGen gnomAD |
|
|
rs1419981807 CA356435814 |
342 | L>V | No |
ClinGen gnomAD |
|
|
rs572986501 CA2865127 |
343 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356435822 rs1311011517 |
343 | M>T | No |
ClinGen TOPMed |
|
|
rs1159041506 CA356435819 |
343 | M>V | No |
ClinGen gnomAD |
|
|
CA356435830 rs1437120106 |
344 | E>G | No |
ClinGen gnomAD |
|
|
CA356435836 rs1374905567 |
345 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1374905567 CA356435835 |
345 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1577546690 CA356435865 |
349 | A>S | No |
ClinGen Ensembl |
|
|
CA356435868 rs1308104705 |
349 | A>V | No |
ClinGen TOPMed |
|
|
CA356435870 rs1375270229 |
350 | V>L | No |
ClinGen gnomAD |
|
|
rs1391814690 CA356435877 |
351 | K>E | No |
ClinGen gnomAD |
|
|
CA356435887 rs1351467517 |
352 | V>A | No |
ClinGen gnomAD |
|
|
CA356435885 rs1306017465 |
352 | V>I | No |
ClinGen gnomAD |
|
|
rs1306017465 CA356435884 |
352 | V>L | No |
ClinGen gnomAD |
|
|
rs150509801 CA2865130 |
353 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2865131 rs772350052 |
355 | F>* | No |
ClinGen ExAC gnomAD |
|
|
CA356435915 COSM1206299 rs1346464383 |
355 | F>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2865132 rs777264973 |
356 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA92560643 CA2865133 rs748404651 |
358 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356435993 rs1174763545 |
362 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1028179695 CA92560669 |
362 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA92560665 rs1028179695 |
362 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs200305318 CA2865136 |
364 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs530829284 CA92560677 |
364 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA356436012 rs1577546943 |
365 | L>F | No |
ClinGen Ensembl |
|
|
rs890039518 CA92560698 |
365 | L>R | No |
ClinGen Ensembl |
|
|
rs773463537 CA92560709 |
372 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2865138 rs745750886 |
374 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA356436121 rs1435581976 |
375 | T>I | No |
ClinGen gnomAD |
|
|
CA92560725 rs917230169 |
376 | N>H | No |
ClinGen TOPMed |
|
|
rs769585338 CA2865139 |
378 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297439024 CA356436156 |
379 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA92560733 rs993180048 |
382 | Y>H | No |
ClinGen Ensembl |
|
|
CA356436199 rs762723727 |
383 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2865141 rs762723727 |
383 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374523869 CA2865142 |
384 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs188407400 CA2865143 |
387 | R>C | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1178148940 CA356436241 |
387 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA92560741 rs936192228 |
388 | W>* | No |
ClinGen TOPMed |
|
|
rs936192228 CA356436252 |
388 | W>S | No |
ClinGen TOPMed |
|
|
CA92560758 rs771398535 |
389 | L>F | No |
ClinGen Ensembl |
|
|
CA356436273 rs1307755875 |
390 | S>P | No |
ClinGen gnomAD |
|
|
CA356436283 rs1203348417 |
391 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1203348417 CA356436281 |
391 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1421745044 CA356436305 |
393 | K>R | No |
ClinGen TOPMed |
|
|
rs761972680 CA2865146 |
397 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs767436792 CA2865147 |
401 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1252985916 CA356436442 |
404 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs750969232 CA2865148 |
405 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356436459 rs1477323627 |
405 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs756751303 CA2865149 |
407 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168549171 CA356436515 |
408 | F>L | No |
ClinGen gnomAD |
|
|
rs1270583438 CA356436554 |
410 | I>S | No |
ClinGen gnomAD |
|
|
CA2865150 rs766975698 |
411 | E>* | No |
ClinGen ExAC TOPMed |
|
|
rs1462769663 CA356436572 |
411 | E>A | No |
ClinGen gnomAD |
|
|
CA356436575 rs944947381 |
411 | E>D | No |
ClinGen TOPMed |
|
|
rs766975698 CA356436560 |
411 | E>K | No |
ClinGen ExAC TOPMed |
|
|
CA356436604 rs1314302933 |
413 | K>* | No |
ClinGen TOPMed |
|
|
rs1577547546 CA356436620 |
414 | S>P | No |
ClinGen Ensembl |
|
|
CA356436690 rs1434176627 |
418 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA356436705 rs1361978599 |
419 | I>V | No |
ClinGen gnomAD |
|
|
CA356436805 rs1293189221 |
423 | D>G | No |
ClinGen TOPMed |
|
|
rs1213662736 CA356436842 |
425 | W>S | No |
ClinGen gnomAD |
|
|
CA356436866 rs1456618082 |
426 | V>I | No |
ClinGen TOPMed |
|
|
CA356436870 rs1456618082 |
426 | V>L | No |
ClinGen TOPMed |
|
|
CA356436947 rs1553860561 |
430 | A>E | No |
ClinGen Ensembl |
|
|
CA356436943 rs1275842253 |
430 | A>S | No |
ClinGen gnomAD |
|
|
rs1560266131 CA356436968 |
431 | Y>C | No |
ClinGen Ensembl |
|
|
CA92560779 rs759753106 |
435 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759753106 CA356437043 |
435 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA92560790 rs959305542 |
437 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1450443183 CA356437092 |
438 | I>T | No |
ClinGen gnomAD |
|
|
CA2865152 rs4235380 |
443 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs4235380 CA356437165 |
443 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356412740 rs1402080654 |
448 | G>W | No |
ClinGen Ensembl |
|
|
CA356412757 rs1475085637 |
449 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs555504313 CA92520944 |
451 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA356412813 rs1161409333 |
451 | S>R | No |
ClinGen gnomAD |
|
|
CA356412879 rs1420373121 |
453 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs777510062 CA356412953 |
455 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356412973 rs1165436444 |
456 | H>R | No |
ClinGen gnomAD |
|
|
rs568402447 CA2865154 |
458 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537461609 CA92520964 |
459 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA2865155 rs181842573 |
459 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1429486242 CA356413051 |
460 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM3428280 CA2865156 rs780617875 |
464 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs745381544 CA2865157 |
464 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 466 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA92520981 rs911489318 |
466 | T>K | No |
ClinGen TOPMed |
|
|
CA356413288 CA356413303 rs1285496166 |
470 | W>R | No |
ClinGen gnomAD |
|
|
CA356413367 rs1323828656 |
472 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 474 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs544113571 CA92520993 |
474 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs944281389 CA92521000 |
477 | N>K | No |
ClinGen Ensembl |
|
|
rs1486152059 CA356413611 |
478 | R>C | No |
ClinGen gnomAD |
|
|
rs769781210 CA2865160 |
478 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 479 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749150027 CA2865162 |
481 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs775385577 CA2865161 |
481 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1289628867 CA356413738 CA356413732 |
482 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1408711658 CA356413777 |
484 | F>C | No |
ClinGen gnomAD |
|
|
CA2865163 rs768297853 |
484 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356413823 rs1156358108 |
486 | R>K | No |
ClinGen gnomAD |
|
|
rs1238923388 CA356413880 |
487 | F>S | No |
ClinGen gnomAD |
|
|
rs1311824647 CA356413922 |
488 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2865164 rs774645686 |
488 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356413930 rs1339088353 |
489 | Q>* | No |
ClinGen gnomAD |
|
|
rs1444883767 CA356413944 |
489 | Q>R | No |
ClinGen gnomAD |
|
|
CA356413959 rs1560266600 |
490 | H>R | No |
ClinGen Ensembl |
|
|
CA92521007 rs993211892 |
490 | H>Y | No |
ClinGen Ensembl |
|
|
CA356414005 rs1259411536 |
492 | E>Q | No |
ClinGen gnomAD |
|
|
CA356414046 rs1238586931 |
493 | E>V | No |
ClinGen gnomAD |
|
|
rs1282595998 CA356414055 |
494 | N>D | No |
ClinGen gnomAD |
|
|
CA356414069 rs1348634393 |
494 | N>S | No |
ClinGen gnomAD |
|
|
rs761873029 CA2865165 |
496 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1560266673 CA356414132 |
496 | I>N | No |
ClinGen Ensembl |
|
|
rs571145179 CA2865166 |
498 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356414158 rs1255190117 |
499 | N>H | No |
ClinGen TOPMed |
|
|
rs1015401402 CA92521008 |
502 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 503 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA92521026 rs1047510709 |
504 | I>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 506 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356414392 rs1396364625 |
507 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs760811913 CA2865168 |
507 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1171467168 CA356414423 |
509 | L>W | No |
ClinGen gnomAD |
|
|
rs540001748 CA92521045 |
510 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2865170 rs754354932 |
511 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA92521091 rs1006328303 |
512 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356414488 rs1335500101 |
513 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356414536 rs1396465697 |
517 | Q>E | No |
ClinGen TOPMed |
|
|
CA356414573 rs1156562830 |
519 | F>C | No |
ClinGen Ensembl |
|
| TCGA novel | 519 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356414607 rs1173838124 |
521 | H>R | No |
ClinGen TOPMed |
|
|
CA2865171 rs755390661 |
522 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA2865173 rs751232793 |
524 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA356414657 rs751232793 |
524 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 525 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356414710 rs1335554202 |
527 | K>I | No |
ClinGen TOPMed |
|
|
CA356414706 rs1335554202 |
527 | K>T | No |
ClinGen TOPMed |
|
|
rs1377930315 CA356414738 |
529 | E>K | No |
ClinGen TOPMed |
|
|
rs1184496849 CA356414786 |
531 | L>* | No |
ClinGen gnomAD |
|
|
rs756929779 CA2865174 |
532 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1560266926 CA356414811 |
533 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 537 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273486791 CA356414930 |
539 | D>Y | No |
ClinGen gnomAD |
|
|
CA92521132 rs1033332143 |
542 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA356415006 rs1160566082 |
543 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs780814054 COSM1594385 CA2865175 |
544 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA92521137 rs746486014 |
544 | R>Q | No |
ClinGen TOPMed |
|
|
CA2865176 rs6449160 |
545 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 546 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA92521145 rs1024820430 |
546 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356415072 rs1168100044 |
547 | E>Q | No |
ClinGen gnomAD |
|
|
rs1464340071 CA356415093 |
548 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA356415091 rs1464340071 |
548 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1328331806 CA356415112 |
549 | I>T | No |
ClinGen gnomAD |
|
|
CA356415165 rs1395903299 |
552 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA92521146 CA356415199 rs776257224 |
554 | L>F | No |
ClinGen TOPMed |
|
|
rs970476553 CA92521147 |
555 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs555334471 CA2865178 |
557 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356415229 rs1364600080 |
557 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1358234590 CA356415250 |
558 | E>D | No |
ClinGen TOPMed |
|
|
CA92521149 rs751129988 |
562 | L>I | No |
ClinGen Ensembl |
|
|
rs756805775 CA92521160 |
572 | K>E | No |
ClinGen Ensembl |
|
|
rs1159781757 CA356415613 |
574 | D>Y | No |
ClinGen TOPMed |
|
|
CA356415642 rs1196595327 |
575 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1309363770 CA356415697 |
577 | T>A | No |
ClinGen gnomAD |
|
|
rs1185276184 CA356415745 |
579 | S>N | No |
ClinGen TOPMed |
|
|
CA356415858 rs1468900522 |
583 | F>C | No |
ClinGen gnomAD |
|
|
CA92521161 rs189865154 |
583 | F>I | No |
ClinGen 1000Genomes TOPMed |
|
|
rs768501487 CA2865180 |
584 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1257891567 CA356415874 |
584 | W>R | No |
ClinGen TOPMed |
|
|
CA356415976 rs1448154940 |
587 | V>I | No |
ClinGen gnomAD |
|
|
rs544201484 CA2865182 |
588 | K>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356416019 rs1396586432 |
588 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs544201484 CA2865181 |
588 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1422550954 CA356416047 |
589 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1167610945 CA356416121 |
593 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1391382604 CA356416173 |
595 | S>N | No |
ClinGen gnomAD |
|
|
CA356416228 rs1418965275 |
597 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356416253 rs1457869209 |
598 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356416333 rs1387245056 |
603 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 604 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297650396 CA356416345 |
604 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356416392 rs1338763256 |
606 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1235348681 CA356416402 |
606 | T>R | No |
ClinGen gnomAD |
|
|
rs1342742103 CA356416430 |
608 | T>A | No |
ClinGen gnomAD |
|
|
rs773532998 CA2865184 |
610 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1294932244 CA356416470 |
610 | L>W | No |
ClinGen gnomAD |
|
|
rs1243982300 CA356416482 |
611 | C>R | No |
ClinGen gnomAD |
|
|
CA356416503 rs1486801179 |
613 | L>P | No |
ClinGen gnomAD |
|
|
CA356416522 rs1205279059 |
616 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 616 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760865369 CA2865185 |
619 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487115450 CA356416561 |
619 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA92521233 rs957419620 |
620 | Q>* | No |
ClinGen TOPMed |
|
|
CA2865187 rs61745232 |
620 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356416565 rs1258655333 |
620 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA356416567 rs1258655333 |
620 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1194113652 CA356416613 |
623 | T>S | No |
ClinGen TOPMed |
|
|
CA356416624 rs1366125656 |
624 | K>E | No |
ClinGen gnomAD |
|
|
rs759896861 CA2865188 |
625 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265277050 CA356416640 |
625 | E>K | No |
ClinGen TOPMed |
|
|
CA92521240 rs759896861 |
625 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113807824 CA356416665 |
626 | R>S | No |
ClinGen gnomAD |
|
|
CA92521247 rs976725517 |
627 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs368230691 CA92521270 |
627 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368230691 CA2865190 |
627 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA92521275 rs911198839 |
628 | G>E | No |
ClinGen TOPMed |
|
|
CA356416743 rs1395303735 |
632 | A>T | No |
ClinGen gnomAD |
|
|
rs1310310302 CA356416749 |
632 | A>V | No |
ClinGen gnomAD |
|
|
rs1318702587 CA356416760 |
633 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA356416763 rs1318702587 |
633 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1240720562 CA356416765 |
634 | V>I | No |
ClinGen gnomAD |
|
|
rs182017004 CA2865192 |
635 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2865193 rs371969327 |
635 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356416780 rs182017004 |
635 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375777415 CA2865194 |
636 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA92521311 rs888205121 |
636 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs750410152 CA92521323 |
637 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2865195 rs779470175 |
638 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA356416848 rs1178525749 |
640 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1376196283 CA356416857 |
641 | S>F | No |
ClinGen TOPMed |
|
|
rs1468995787 CA356416876 |
644 | P>A | No |
ClinGen TOPMed |
|
|
CA356416875 rs1468995787 |
644 | P>S | No |
ClinGen TOPMed |
|
|
CA356416887 rs559945354 |
645 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1464708334 CA356416890 |
646 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA356416891 rs1464708334 |
646 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs778882831 CA2865198 |
646 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA356416921 rs1300885091 |
648 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA356416960 rs1308363864 |
650 | M>I | No |
ClinGen gnomAD |
|
|
rs761341372 CA356416950 |
650 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761341372 CA356416953 |
650 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2865199 rs761341372 |
650 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219074245 CA356416984 |
652 | R>M | No |
ClinGen TOPMed |
|
|
rs1384347677 CA356416994 |
653 | Q>* | No |
ClinGen gnomAD |
|
|
CA2865200 rs577833555 |
654 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1014060481 CA92521383 |
654 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs930179993 CA92521389 |
655 | H>Q | No |
ClinGen Ensembl |
|
|
CA356417040 rs1236087689 |
656 | P>L | No |
ClinGen TOPMed |
|
|
CA2865201 rs143099965 |
657 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs887552364 CA92521399 |
658 | S>K | No |
ClinGen Ensembl |
No associated diseases with P0CF97
No regional properties for P0CF97
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P0CF97 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDHFFIKRKR | NSEVKYTEAC | SSSSVESGIV | NSDNIEKNTD | SNLQTSTSFE | PHFKKKKVSA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RRYNEDYLKY | GFIKCEKPFE | NDRPQCVICN | NILANESLKP | SKLKRHLETQ | HAELIDKPLE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YFQRKKKDIK | LSTQFLSCST | AVSEKALLSS | YLVAYRVAKE | KIANTAAEKI | ILPACLDMVR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TIFDDKSADK | LKTIPNDNTV | SLRICTIAEH | LETMLITRLQ | SGIDFAIQLD | ESTDIGSCTT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LLVYVRYAWQ | DDFLEDFLCF | LNLTSHLSGL | DIFTELERRI | VGQYKLNWKN | CKGITSDGTA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TMTGKHSRVI | KKLLEVTNNG | AVWNHCFIHR | EGLASREIPQ | NLMEVLKNAV | KVVNFIKGSS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LNSRLLETFC | SEIGTNHTHL | LYHTKIRWLS | QGKILSRVYE | LRNEIHFFLI | EKKSHLASIF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EDDTWVTKLA | YLTDIFSILN | ELSLKLQGKN | SDVFQHVERI | QGFRKTLLLW | QVRLKSNRPS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YYMFPRFLQH | IEENIINENI | LKEIKLEILL | HLTSLSQTFN | HFFPEEKFET | LRENSWVKDP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FAFRHPESII | ELNLVPEEEN | ELLQLSSSYT | LKNDYETLSL | SAFWMKVKED | FPLLSRKSVL |
| 610 | 620 | 630 | 640 | 650 | |
| LLLPFTTTSL | CELGFSILTQ | LKTKERNGLN | CAAVMRVALS | SCVPDWNELM | NRQAHPS |