Q4G0U5
PR
Gene name |
CFAP221 |
Protein name |
Cilia- and flagella-associated protein 221 |
Names |
Primary ciliary dyskinesia protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:200373 |
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 Q4G0U5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q4G0U5-F1 | Predicted | AlphaFoldDB |
749 variants for Q4G0U5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs905902670 CA54323592 |
4 | V>G | No |
ClinGen Ensembl |
|
|
rs768286406 CA1848089 |
5 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348151531 rs1490145655 |
8 | S>R | No |
ClinGen TOPMed |
|
|
CA348151647 rs1268556930 |
14 | A>T | No |
ClinGen gnomAD |
|
|
rs1035652894 CA54323618 |
15 | K>E | No |
ClinGen gnomAD |
|
|
rs1573962787 CA348151686 |
16 | E>D | No |
ClinGen Ensembl |
|
|
CA348151701 rs1206452877 |
17 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348151780 rs944262395 |
19 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA54323624 rs944262395 |
19 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1187447617 CA348151807 |
20 | N>S | No |
ClinGen gnomAD |
|
|
CA348151842 rs1471344213 |
21 | A>V | No |
ClinGen gnomAD |
|
|
rs977042682 CA348151906 |
23 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs977042682 CA54323628 |
23 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1411723060 CA348151934 |
24 | H>R | No |
ClinGen gnomAD |
|
|
CA348152064 rs1403653352 |
30 | V>M | No |
ClinGen TOPMed |
|
|
rs1332438835 CA348152133 |
32 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1848090 rs756281317 |
33 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348152149 rs756281317 |
33 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342701120 CA348152158 |
34 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1178862238 CA348152210 |
36 | R>G | No |
ClinGen gnomAD |
|
|
rs571870921 CA54323638 |
36 | R>S | No |
ClinGen 1000Genomes |
|
|
CA54323662 rs988712262 |
38 | E>D | No |
ClinGen Ensembl |
|
|
CA348152260 rs2579624 |
38 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1848091 rs2579624 |
38 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348152277 rs1395572239 |
39 | V>I | No |
ClinGen gnomAD |
|
|
rs1395572239 CA348152279 |
39 | V>L | No |
ClinGen gnomAD |
|
|
CA348152292 rs1338584713 |
40 | P>H | No |
ClinGen gnomAD |
|
|
rs754115974 CA1848092 |
40 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1444315676 CA348152306 |
41 | N>D | No |
ClinGen gnomAD |
|
|
CA1848093 rs757545982 |
41 | N>S | No |
ClinGen ExAC |
|
|
rs1558900002 CA348152333 |
42 | H>R | No |
ClinGen Ensembl |
|
|
CA348152398 rs1288685952 |
45 | E>K | No |
ClinGen gnomAD |
|
|
CA54326017 rs1026288603 |
48 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs948202564 CA54326038 |
50 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1340870822 CA348153164 |
52 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA54326051 rs950697629 |
55 | N>S | No |
ClinGen Ensembl |
|
|
CA348153249 rs1159269245 |
59 | Q>* | No |
ClinGen Ensembl |
|
|
rs984697533 CA54326061 |
59 | Q>P | No |
ClinGen Ensembl |
|
|
CA348153272 rs1355362377 |
61 | R>G | No |
ClinGen TOPMed |
|
|
rs772645792 CA1848100 |
62 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1558902666 CA348153294 |
62 | P>R | No |
ClinGen Ensembl |
|
|
CA1848101 rs749010346 |
66 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530330913 CA54326068 |
66 | H>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 66 | H>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA54326086 rs777413463 |
69 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA348153406 rs1432756429 |
70 | Y>C | No |
ClinGen gnomAD |
|
|
CA348153413 rs1197030214 |
71 | Q>K | No |
ClinGen gnomAD |
|
|
rs548470004 CA1848102 |
75 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1573970203 CA348153505 |
76 | H>R | No |
ClinGen Ensembl |
|
|
CA348153500 rs1573970176 |
76 | H>Y | No |
ClinGen Ensembl |
|
|
rs1169116941 CA348153566 |
78 | Q>R | No |
ClinGen gnomAD |
|
|
rs555779073 CA1848113 |
83 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1848114 rs780227812 |
84 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348155241 rs1373886697 |
85 | V>G | No |
ClinGen Ensembl |
|
|
rs1435388903 CA348155254 |
86 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 86 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA54334908 rs115845526 |
87 | N>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA54334912 rs1021587205 |
88 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA54334932 rs977475346 |
90 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1366055533 CA348155330 |
90 | T>I | No |
ClinGen TOPMed |
|
|
CA1848115 rs536173598 |
91 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1848116 rs185475282 |
91 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs185475282 CA54334965 |
91 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1262900268 CA348155360 |
93 | H>N | No |
ClinGen gnomAD |
|
|
CA348155364 rs1465475899 |
93 | H>R | No |
ClinGen gnomAD |
|
|
CA54334979 rs1026680525 |
94 | I>V | No |
ClinGen Ensembl |
|
|
CA348155420 rs1462768004 |
96 | P>L | No |
ClinGen gnomAD |
|
|
CA348155414 rs1246196844 |
96 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777325513 CA1848117 |
97 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748777621 CA1848118 |
99 | T>N | No |
ClinGen ExAC |
|
|
CA348155477 rs1422998099 |
100 | K>R | No |
ClinGen gnomAD |
|
|
CA54334994 rs969705170 |
101 | Y>* | No |
ClinGen TOPMed |
|
|
CA54335000 rs981061328 |
102 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 103 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348343606 CA348155562 |
105 | N>K | No |
ClinGen TOPMed |
|
|
CA348155572 rs1319526177 |
106 | Y>F | No |
ClinGen gnomAD |
|
|
rs1362605967 CA348155579 |
107 | V>I | No |
ClinGen gnomAD |
|
|
CA54335314 rs968685095 |
111 | H>Q | No |
ClinGen TOPMed |
|
|
rs1415850937 CA348155657 |
112 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA348155669 rs1422423844 |
112 | H>Q | No |
ClinGen gnomAD |
|
|
rs1176098419 CA348155664 |
112 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1358086571 CA348155677 |
114 | V>I | No |
ClinGen gnomAD |
|
|
CA348155688 rs1558912456 |
115 | P>T | No |
ClinGen Ensembl |
|
|
CA1848126 rs576652538 |
117 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA54335323 rs998843590 |
117 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA54335360 rs1015451411 |
118 | S>A | No |
ClinGen TOPMed |
|
|
rs896978449 CA54335393 |
120 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs896978449 CA348155720 |
120 | T>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 122 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA54335406 rs368061159 |
123 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1347578340 CA348155750 |
124 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA348155747 rs1347578340 |
124 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1195383154 CA348155775 |
127 | P>S | No |
ClinGen TOPMed |
|
|
CA348155791 rs1157783332 |
128 | D>G | No |
ClinGen gnomAD |
|
|
CA348155784 rs1277918930 |
128 | D>N | No |
ClinGen gnomAD |
|
|
rs1310581641 CA348155806 |
129 | E>D | No |
ClinGen gnomAD |
|
|
rs1488780520 CA348155825 |
131 | R>* | No |
ClinGen TOPMed |
|
|
CA54335470 rs969757646 |
131 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1483242667 CA348155848 |
133 | Y>C | No |
ClinGen gnomAD |
|
|
rs765183176 CA1848129 |
134 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 134 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776703501 CA54335488 |
136 | C>Y | No |
ClinGen gnomAD |
|
|
CA54335495 rs979802886 |
137 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA348155906 rs1478774684 |
138 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA348155909 rs1191418386 |
138 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA348155912 rs1191418386 |
138 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1423850501 CA348155913 |
139 | V>I | No |
ClinGen gnomAD |
|
|
CA348155923 rs1171012383 |
140 | H>Y | No |
ClinGen gnomAD |
|
|
rs191056124 CA54335536 |
141 | C>R | No |
ClinGen 1000Genomes |
|
|
CA348156053 rs1233625125 |
143 | G>E | No |
ClinGen Ensembl |
|
|
CA1848145 rs778215953 |
144 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA348156058 rs1321235404 |
144 | D>N | No |
ClinGen gnomAD |
|
|
CA348156110 rs1227571781 |
149 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA348156121 rs1358177996 |
151 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA348156128 rs1187783036 |
152 | H>D | No |
ClinGen TOPMed |
|
|
CA54337652 rs1054418106 |
152 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1288922872 CA348156132 |
152 | H>Q | No |
ClinGen gnomAD |
|
|
rs1319504244 CA348156144 |
154 | Y>C | No |
ClinGen gnomAD |
|
|
rs1210211423 CA348156150 |
155 | P>S | No |
ClinGen gnomAD |
|
|
rs1248098005 CA348156182 |
159 | S>L | No |
ClinGen gnomAD |
|
|
rs1249889103 CA348156178 |
159 | S>P | No |
ClinGen TOPMed |
|
|
CA348156189 rs1216590137 |
161 | D>H | No |
ClinGen TOPMed |
|
|
CA348156198 rs1187198374 |
162 | F>V | No |
ClinGen gnomAD |
|
|
rs867971647 CA348156205 |
163 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA54337673 rs867971647 |
163 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs891446049 CA54337682 |
166 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA348156246 rs1387982764 |
169 | S>L | No |
ClinGen gnomAD |
|
|
rs1574003740 CA348156248 |
170 | N>H | No |
ClinGen Ensembl |
|
|
CA348156280 rs1226759181 |
175 | E>Q | No |
ClinGen TOPMed |
|
|
rs1574067182 CA348157814 |
177 | K>T | No |
ClinGen Ensembl |
|
|
rs988262604 CA54356933 |
178 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 179 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767807336 CA1848162 |
185 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 187 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348157884 rs1268364677 |
187 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA54356944 rs954657483 |
189 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA54356948 rs954657483 |
189 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA348157908 rs1158584603 |
191 | F>I | No |
ClinGen TOPMed |
|
|
CA348157910 rs1392113332 |
191 | F>S | No |
ClinGen gnomAD |
|
|
rs1277164829 CA348157919 |
192 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA348157915 rs1471715173 |
192 | E>K | No |
ClinGen TOPMed |
|
|
rs1442144405 CA348157969 |
199 | Q>P | No |
ClinGen TOPMed |
|
|
CA348157978 rs1574067349 |
200 | S>F | No |
ClinGen Ensembl |
|
|
rs1389306222 CA348157976 |
200 | S>P | No |
ClinGen gnomAD |
|
|
CA348157982 rs1483670811 |
201 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs756572156 CA1848164 |
202 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA54356962 rs748629052 |
203 | A>T | No |
ClinGen gnomAD |
|
|
CA348157999 rs1390957017 |
203 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1014414030 CA54356967 |
205 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA348158008 rs1385900690 |
205 | A>T | No |
ClinGen gnomAD |
|
|
CA348158016 rs1436465300 |
206 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs943576625 CA54356971 |
206 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1297570573 CA348158031 |
208 | P>R | No |
ClinGen gnomAD |
|
|
rs1037960574 CA54356976 |
209 | T>A | No |
ClinGen TOPMed |
|
|
CA348151894 rs1398318738 |
212 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA348151927 rs1313796228 |
214 | P>A | No |
ClinGen gnomAD |
|
|
rs1024809720 CA54304701 |
214 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1270306872 CA348151994 |
216 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA348152017 rs1208145432 |
217 | G>E | No |
ClinGen gnomAD |
|
|
rs562010904 CA54304709 |
217 | G>W | No |
ClinGen 1000Genomes gnomAD |
|
|
CA54304713 rs977994368 |
219 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1009119075 CA54304714 |
222 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs529182212 CA54304716 |
225 | F>L | No |
ClinGen 1000Genomes |
|
|
CA348152294 rs1256594093 |
226 | T>I | No |
ClinGen gnomAD |
|
|
rs1185300895 CA348152310 |
227 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1185300895 CA348152315 |
227 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1039292128 CA348152303 |
227 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1039292128 CA54304720 |
227 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA348152396 rs1413658401 |
230 | Y>C | No |
ClinGen gnomAD |
|
|
CA54304727 rs192631089 |
231 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA348152419 rs1239075003 |
231 | G>V | No |
ClinGen TOPMed |
|
|
rs1157658208 CA348152431 |
232 | T>N | No |
ClinGen gnomAD |
|
|
CA54304731 rs559604174 |
235 | I>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1290990329 CA348152500 |
237 | M>L | No |
ClinGen TOPMed |
|
|
CA54304736 rs958006787 |
239 | L>S | No |
ClinGen Ensembl |
|
|
rs1468024516 CA348152592 |
240 | W>C | No |
ClinGen gnomAD |
|
|
CA54304739 rs764765195 |
242 | S>L | No |
ClinGen gnomAD |
|
|
CA348152658 rs1351289245 |
244 | F>L | No |
ClinGen gnomAD |
|
|
CA54304740 rs911268703 |
245 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA348152682 rs911268703 |
245 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA348152726 rs944145294 |
247 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA348152740 rs1212140818 |
248 | P>L | No |
ClinGen gnomAD |
|
|
rs868568368 CA54304749 |
248 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348152746 rs1455898445 |
249 | Y>H | No |
ClinGen gnomAD |
|
|
rs76001239 CA1848174 |
250 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1208395629 CA348152780 |
251 | C>S | No |
ClinGen gnomAD |
|
|
CA1848175 rs756806071 |
251 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348152831 rs1472675232 |
254 | T>I | No |
ClinGen gnomAD |
|
|
rs537092609 CA54304789 |
255 | G>E | No |
ClinGen 1000Genomes |
|
|
rs1006269406 CA54304783 |
255 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1191544852 CA348152870 |
257 | C>W | No |
ClinGen TOPMed |
|
|
CA348152880 rs1434448116 |
258 | Y>C | No |
ClinGen gnomAD |
|
|
rs1004011956 CA54304793 |
259 | P>H | No |
ClinGen TOPMed |
|
|
rs1177384942 CA348152921 |
261 | M>V | No |
ClinGen gnomAD |
|
|
CA54304805 rs879091042 |
263 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs879073722 CA54304797 |
263 | L>I | No |
ClinGen Ensembl |
|
|
rs1394966100 CA348152970 |
264 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs754675793 CA1848188 |
265 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs572667132 CA1848187 |
265 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 266 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1848190 rs747876136 |
266 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549984591 CA1848189 |
266 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323090141 CA348153983 |
267 | E>K | No |
ClinGen gnomAD |
|
|
rs1251832477 CA348153998 |
268 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1848191 rs756120157 |
272 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1191037587 CA348154072 |
273 | T>N | No |
ClinGen gnomAD |
|
|
CA1848194 rs770999307 |
274 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA348154099 rs1205432513 |
275 | S>A | No |
ClinGen TOPMed |
|
|
CA1848195 rs774406715 |
279 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs183561054 CA1848196 |
279 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1848198 rs61741340 |
280 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1848200 rs764469525 |
281 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777017525 CA1848201 |
285 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319236938 CA348154313 |
286 | M>I | No |
ClinGen TOPMed |
|
|
CA1848202 rs762343791 |
286 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348154332 rs1326911656 |
287 | M>I | No |
ClinGen gnomAD |
|
|
CA348154327 rs1276315169 |
287 | M>T | No |
ClinGen gnomAD |
|
|
CA1848203 rs766054974 |
288 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 290 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1848206 rs767048552 |
290 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1574108298 CA348154401 |
292 | H>P | No |
ClinGen Ensembl |
|
|
rs752357355 CA1848207 |
293 | R>* | Variant assessed as Somatic; 5.288e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755888501 CA1848209 |
293 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755888501 CA1848210 |
293 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848208 rs755888501 |
293 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848211 rs757171005 |
294 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs757171005 CA348154429 |
294 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs745914615 CA348154458 |
296 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745914615 CA54306629 |
296 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214355468 CA348154453 |
296 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1214355468 CA348154450 |
296 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs745914615 CA1848213 |
296 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848215 rs370833302 |
298 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1848216 rs370833302 |
298 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348154513 rs1490479642 |
299 | K>R | No |
ClinGen TOPMed |
|
|
CA1848218 rs777051013 |
300 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs993289980 CA54306676 |
301 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 301 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1848220 rs770404174 |
301 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA348154555 rs1400025880 |
302 | K>Q | No |
ClinGen gnomAD |
|
|
rs759136501 CA1848222 |
303 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs774047519 CA1848221 |
303 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774047519 CA54306700 |
303 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848243 rs771543800 |
305 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA348154652 rs1349146827 |
306 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs926997216 CA348154668 |
308 | Y>* | No |
ClinGen TOPMed |
|
|
rs775064928 CA1848244 |
308 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs760287563 CA1848245 |
309 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA348154687 rs1344837363 |
311 | L>F | No |
ClinGen gnomAD |
|
|
rs911514076 CA54306838 |
312 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1350314453 CA348154716 |
315 | V>A | No |
ClinGen TOPMed |
|
|
rs1250135466 CA348154721 |
316 | D>G | No |
ClinGen gnomAD |
|
|
rs753441574 CA348154725 |
317 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs753441574 CA1848247 |
317 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs148375672 CA1848248 |
318 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148375672 CA1848249 |
318 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348154739 rs1413445302 |
319 | N>I | No |
ClinGen TOPMed |
|
|
CA1848251 rs758342076 |
321 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs751625859 CA1848253 |
324 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 326 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140168134 CA1848254 |
327 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 330 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141477875 CA1848255 |
332 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1197092091 CA348154823 |
332 | G>R | No |
ClinGen gnomAD |
|
|
rs764044968 CA1848256 |
333 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 334 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 334 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388646376 CA348154854 |
336 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA348154852 rs1324884141 |
336 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs770283561 CA1848257 |
337 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA348154866 rs1440812337 |
338 | E>G | No |
ClinGen gnomAD |
|
|
rs1014127494 CA54306889 |
341 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA54306899 rs868605053 |
342 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 343 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1848271 rs755113026 |
344 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1848272 rs767634123 |
345 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA348154986 rs1316465570 |
346 | G>D | No |
ClinGen TOPMed |
|
|
rs1189595854 CA348154980 |
346 | G>S | No |
ClinGen gnomAD |
|
|
CA1848276 rs200170187 |
352 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376003657 CA1848277 |
354 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs974449771 CA54307072 |
355 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1345610841 CA348155136 |
355 | M>L | No |
ClinGen TOPMed |
|
|
CA348155141 rs1163986871 |
355 | M>T | No |
ClinGen TOPMed |
|
|
rs1164217816 CA348155209 |
358 | A>V | No |
ClinGen TOPMed |
|
|
rs779507937 CA1848278 |
359 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779507937 CA1848279 |
359 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848281 rs776107118 |
360 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 360 | F>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1848282 rs148985492 |
361 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348155304 rs1056559397 |
362 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1056559397 CA54307111 |
362 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1574110335 CA348155332 |
363 | K>T | No |
ClinGen Ensembl |
|
|
rs1239638156 CA348155343 |
364 | V>I | No |
ClinGen gnomAD |
|
|
CA1848285 rs762827089 |
365 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1848286 rs766045453 |
365 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188153521 CA348155410 |
366 | Q>R | No |
ClinGen gnomAD |
|
|
CA1848287 rs373961421 |
367 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1848288 rs759330690 |
367 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs373961421 CA348155428 |
367 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767758870 CA1848289 |
368 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA348155485 rs1185442756 |
369 | H>L | No |
ClinGen gnomAD |
|
|
rs756457015 CA1848291 |
370 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756457015 CA1848292 |
370 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA348155540 rs753969821 |
371 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753969821 CA1848293 |
371 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848295 rs757647160 |
372 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757647160 CA1848294 |
372 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348155571 rs1430632611 |
373 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA348155611 rs1437130693 |
374 | N>S | No |
ClinGen gnomAD |
|
|
rs1574110595 CA348155623 |
375 | H>Q | No |
ClinGen Ensembl |
|
|
rs746446705 CA1848296 |
376 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA348155643 rs1194581313 |
377 | K>* | No |
ClinGen gnomAD |
|
|
CA1848315 rs775522316 |
378 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760871327 CA1848316 |
379 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs764205097 CA1848317 |
379 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 379 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754104887 CA1848318 |
380 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA348156435 rs946362373 |
383 | G>R | No |
ClinGen TOPMed |
|
|
CA54309297 rs946362373 |
383 | G>S | No |
ClinGen TOPMed |
|
|
rs1194780163 CA348156455 |
385 | D>E | No |
ClinGen gnomAD |
|
|
CA1848319 rs141884466 |
385 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs141884466 CA348156449 |
385 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1848320 rs765699546 |
386 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs758952901 CA1848322 |
387 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA1848321 rs139037503 |
387 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA54309344 rs902218062 |
389 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs901214991 CA54309337 |
389 | F>V | No |
ClinGen Ensembl |
|
|
rs1409589052 CA348156523 |
391 | L>P | No |
ClinGen gnomAD |
|
|
rs1168681390 CA348156531 |
392 | K>R | No |
ClinGen gnomAD |
|
|
rs79983908 CA1848323 |
393 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 394 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755622064 CA1848326 |
396 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848327 rs368000329 CA348156637 |
399 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348156654 rs1362480764 |
401 | K>E | No |
ClinGen gnomAD |
|
|
CA348156665 rs1213593424 |
401 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs749022533 CA1848328 |
402 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA348156682 rs1392385255 |
403 | C>Y | No |
ClinGen TOPMed |
|
|
CA348156710 rs1271989481 |
405 | K>R | No |
ClinGen gnomAD |
|
|
CA1848330 rs778821197 |
406 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA348156744 rs1445157486 |
407 | K>R | No |
ClinGen TOPMed |
|
|
CA348157316 rs1446964764 |
410 | R>G | No |
ClinGen gnomAD |
|
|
rs758283586 CA1848351 |
412 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA348157358 rs758283586 |
412 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs925941493 CA54312297 |
414 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs931996947 CA54312303 |
415 | L>F | No |
ClinGen TOPMed |
|
|
rs530286681 CA1848352 |
415 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1208612195 CA348157426 |
416 | D>V | No |
ClinGen TOPMed |
|
|
CA54312313 rs778710964 |
417 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA54312319 rs201217508 |
418 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1848354 rs745665268 |
421 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848355 rs776819889 |
421 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1848356 rs748199386 |
424 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 425 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348157489 rs769876153 |
426 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs769876153 CA1848357 |
426 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs763100763 CA1848359 |
428 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs763100763 CA54312359 |
428 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1848358 rs773426086 |
428 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1848361 rs774688531 |
430 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1848360 rs149304410 |
430 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752122190 CA1848364 |
432 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552536625 CA1848365 |
433 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
CA1848367 rs570718788 |
433 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA348157532 rs570718788 |
433 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1349102791 CA348157542 |
435 | Q>E | No |
ClinGen gnomAD |
|
|
CA348157557 rs1210414971 |
437 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs113087653 CA348157620 |
443 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1848391 rs113087653 |
443 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866442055 CA54315556 |
444 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1848392 rs758173539 |
447 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1192717886 CA348157649 |
448 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348157651 rs1192717886 |
448 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1848393 rs766151011 |
449 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA348157668 rs1574140667 |
451 | N>D | No |
ClinGen Ensembl |
|
|
rs1168179117 CA348157672 |
451 | N>S | No |
ClinGen gnomAD |
|
|
rs1558965107 CA348157680 |
452 | N>K | No |
ClinGen Ensembl |
|
|
rs780981370 CA1848396 |
452 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA348157682 rs1327367791 |
453 | T>S | No |
ClinGen gnomAD |
|
|
rs1395770395 CA348157701 |
455 | L>R | No |
ClinGen gnomAD |
|
|
rs1030775600 CA54315608 |
456 | S>I | No |
ClinGen Ensembl |
|
|
CA54315623 rs990790952 |
457 | R>G | No |
ClinGen TOPMed |
|
|
rs777866800 CA1848399 |
461 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848400 rs777866800 |
461 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779116617 CA1848402 |
463 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848401 rs550330366 |
463 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1848405 rs775919999 |
467 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1209240687 CA348157784 |
468 | A>G | No |
ClinGen gnomAD |
|
|
rs146232547 CA54315653 |
468 | A>T | No |
ClinGen 1000Genomes |
|
|
CA1848407 rs769264898 |
469 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1848409 rs368923748 |
469 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1848408 rs368923748 |
469 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 471 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373487491 CA1848431 |
472 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348158188 rs1313771097 |
473 | I>N | No |
ClinGen gnomAD |
|
|
CA348158196 rs1355087632 |
474 | Q>R | No |
ClinGen gnomAD |
|
|
rs774953153 CA1848432 |
475 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs760469971 CA1848433 |
476 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763821756 CA1848434 |
476 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1848435 rs753835288 |
478 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348158217 rs1558973651 |
478 | F>L | No |
ClinGen Ensembl |
|
|
rs1057479883 CA54322997 |
479 | N>D | No |
ClinGen Ensembl |
|
|
CA1848437 rs548971876 |
480 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA54323004 rs950240168 |
480 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1482740817 CA348158239 |
481 | L>P | No |
ClinGen gnomAD |
|
|
rs1044674182 CA54323022 |
482 | S>C | No |
ClinGen TOPMed |
|
|
rs765273288 CA1848438 |
485 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1848439 rs376441498 |
485 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1848441 rs143130691 |
486 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773160829 CA1848436 |
487 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs747159851 CA1848443 |
489 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1393456827 CA348158295 |
490 | E>K | No |
ClinGen TOPMed |
|
|
rs1166488329 CA348158306 |
491 | S>N | No |
ClinGen TOPMed |
|
|
rs755404887 CA1848445 |
492 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1461445608 CA348158318 |
493 | L>V | No |
ClinGen TOPMed |
|
|
CA348158322 rs1299952089 |
494 | R>G | No |
ClinGen gnomAD |
|
|
CA1848446 rs781679462 |
494 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA348158335 rs1391865094 |
495 | K>N | No |
ClinGen gnomAD |
|
|
rs1374594573 CA348158341 |
496 | I>M | No |
ClinGen gnomAD |
|
|
rs748727651 CA1848447 |
496 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348158345 rs1191133261 |
497 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA348158368 rs770389733 |
500 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1848452 rs546995825 |
502 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1848451 rs546995825 |
502 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449813787 CA348158384 |
503 | I>K | No |
ClinGen TOPMed |
|
|
rs760312158 CA1848454 |
503 | I>V | No |
ClinGen ExAC |
|
|
rs1010779182 CA54323175 |
505 | Q>R | No |
ClinGen TOPMed |
|
|
CA1848490 rs756518487 |
507 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184759014 CA348158427 |
508 | N>S | No |
ClinGen gnomAD |
|
|
CA348158448 rs1410400308 |
511 | K>E | No |
ClinGen gnomAD |
|
|
CA1848492 rs754439796 |
511 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779588904 CA1848494 |
515 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848497 rs544476023 |
516 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140592618 CA1848496 |
516 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201318547 CA1848501 |
519 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848500 rs201318547 |
519 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145345487 CA1848502 |
520 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA54324755 rs372487264 |
520 | D>V | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 521 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759718000 CA1848504 |
523 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848503 rs774377345 |
523 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs551786992 CA1848505 |
524 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556658192 CA1848507 |
525 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1848506 rs375100921 |
525 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
TCGA novel CA1848508 rs764563519 |
526 | F>L | Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1848509 rs146566593 |
527 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1848510 rs368635059 |
529 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368635059 CA1848511 |
529 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201463389 CA1848513 |
530 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348158567 rs201463389 |
530 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348158569 rs1332894832 |
531 | K>E | No |
ClinGen TOPMed |
|
|
CA1848514 rs780666774 |
532 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574175286 CA348158587 |
533 | V>G | No |
ClinGen Ensembl |
|
|
rs747899692 CA1848515 |
533 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA348158608 rs200060056 |
537 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848517 rs200060056 |
537 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200240028 CA54324808 |
540 | D>E | No |
ClinGen 1000Genomes |
|
|
CA348158630 rs1316912956 |
540 | D>G | No |
ClinGen TOPMed |
|
|
CA348158637 rs1384387949 |
541 | C>Y | No |
ClinGen TOPMed |
|
|
rs770806807 CA1848519 |
542 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1390243416 CA348158652 |
543 | P>L | No |
ClinGen TOPMed |
|
|
rs1006435477 CA54324809 |
544 | P>L | No |
ClinGen TOPMed |
|
|
CA1848520 rs527664624 |
545 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745789456 CA1848522 |
548 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs371359569 CA1848524 |
549 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764150377 CA54324837 |
550 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348158712 rs1311557046 |
551 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA348158711 rs1311557046 |
551 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs896800829 CA54329188 |
552 | P>R | No |
ClinGen TOPMed |
|
|
CA1848556 rs753503417 |
553 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs756941486 CA1848557 |
554 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs756941486 CA1848558 |
554 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 555 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1848559 rs745684821 |
556 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA348158750 rs1265082176 |
558 | V>L | No |
ClinGen gnomAD |
|
|
rs779860834 CA1848561 |
560 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 562 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1848563 rs768678085 |
563 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs920426106 CA54329218 |
567 | I>M | No |
ClinGen Ensembl |
|
|
rs1369482190 CA348158817 |
568 | K>M | No |
ClinGen gnomAD |
|
|
rs1457850517 CA348158826 |
569 | Q>R | No |
ClinGen gnomAD |
|
|
rs141973562 CA1848565 |
572 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1848566 rs769980990 |
573 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1848567 rs773373237 |
575 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs758607887 CA54329231 |
576 | L>M | No |
ClinGen Ensembl |
|
|
rs763334604 CA1848568 |
576 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs973122237 CA54329645 |
578 | V>A | No |
ClinGen Ensembl |
|
|
CA348158897 rs1185666247 |
578 | V>F | No |
ClinGen TOPMed |
|
|
CA348158895 rs1185666247 |
578 | V>I | No |
ClinGen TOPMed |
|
|
rs749450630 CA1848586 |
580 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1848588 rs368472782 |
581 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371870181 CA1848589 |
582 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348158927 rs374610270 |
583 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374610270 CA1848590 |
583 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776104763 CA348158934 |
584 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848591 rs776104763 |
584 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348158945 rs1256043250 |
586 | R>G | No |
ClinGen gnomAD |
|
|
rs1209395961 CA348158961 |
588 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1848595 rs750160118 CA1848594 |
588 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1247725040 CA348158970 |
589 | P>L | No |
ClinGen TOPMed |
|
|
CA1848596 rs766125050 |
589 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458617828 CA348158977 |
590 | F>L | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1848597 rs751345341 |
591 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs754679561 CA348158985 |
592 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754679561 CA1848598 |
592 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752559914 CA1848600 |
593 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs756196540 CA1848601 |
593 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1848599 rs781138969 |
593 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200428550 CA54329721 |
594 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1464571801 CA348158998 |
594 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 594 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348159039 rs1386836464 |
600 | R>I | No |
ClinGen TOPMed |
|
|
rs969204458 CA54329745 |
604 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1848604 rs749575441 |
605 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867214691 CA54329746 |
606 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs867214691 CA348159074 |
606 | R>G | No |
ClinGen gnomAD |
|
|
rs146855237 CA1848605 |
606 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1230365309 CA348159079 |
607 | A>S | No |
ClinGen gnomAD |
|
|
rs1230365309 CA348159077 |
607 | A>T | No |
ClinGen gnomAD |
|
|
CA1848609 rs200947466 |
611 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1848610 rs557627403 |
612 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1848611 rs557627403 |
612 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1848612 rs772820386 |
613 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1848634 rs767365632 |
614 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA348159145 rs1558979571 |
615 | E>D | No |
ClinGen Ensembl |
|
|
rs1374001131 CA348159141 |
615 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA348159160 rs1199233616 |
618 | T>A | No |
ClinGen TOPMed |
|
|
rs775232199 CA1848635 |
619 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs760414793 CA1848636 |
620 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1398779910 CA348159175 |
620 | T>K | No |
ClinGen gnomAD |
|
|
rs764050960 CA1848637 |
621 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848638 rs753652051 |
621 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757372415 CA1848639 |
622 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs551957337 CA1848641 |
623 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs867398815 CA54330047 |
623 | P>S | No |
ClinGen Ensembl |
|
|
rs1286960899 CA348159191 |
624 | K>* | No |
ClinGen gnomAD |
|
|
rs751992251 CA1848644 |
627 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848645 rs148596401 |
628 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1574186686 CA348159221 |
628 | T>R | No |
ClinGen Ensembl |
|
|
rs1193718969 CA348159228 |
629 | T>I | No |
ClinGen TOPMed |
|
|
rs969508342 CA54330077 |
630 | Q>* | No |
ClinGen Ensembl |
|
|
rs531056150 CA1848647 |
630 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1848646 rs531056150 |
630 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1848650 rs745572291 |
634 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348159259 rs1360701425 |
635 | T>P | No |
ClinGen gnomAD |
|
|
rs2272058 CA348159272 |
637 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs567696052 CA1848652 |
637 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_039232 rs2272058 CA1848651 |
637 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA348159271 rs2272058 |
637 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760467947 CA1848653 |
638 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA54330137 rs748829029 |
639 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480911172 CA348159289 |
640 | M>V | No |
ClinGen Ensembl |
|
|
CA348159310 rs1574186940 |
642 | P>L | No |
ClinGen Ensembl |
|
|
CA1848655 rs776692975 |
644 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA1848656 rs761656123 |
645 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA54330160 rs761656123 |
645 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765402227 CA348159338 |
647 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242682836 CA348159335 |
647 | A>T | No |
ClinGen gnomAD |
|
|
rs765402227 CA1848657 |
647 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353253365 CA348159345 |
648 | M>R | No |
ClinGen gnomAD |
|
|
rs1353253365 CA348159344 |
648 | M>T | No |
ClinGen gnomAD |
|
|
CA348159342 rs1558979869 |
648 | M>V | No |
ClinGen Ensembl |
|
|
rs750449699 CA1848658 |
651 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs1222323481 CA348159367 |
652 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA348159368 rs1222323481 |
652 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1848659 rs201082491 |
653 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348159380 rs1280802900 |
653 | D>V | No |
ClinGen gnomAD |
|
|
CA348159386 rs1470011939 |
654 | P>L | No |
ClinGen TOPMed |
|
|
rs377738201 CA1848660 |
654 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141629669 CA1848663 |
656 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755402898 CA1848662 |
656 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA348159401 rs1202596712 |
657 | V>D | No |
ClinGen TOPMed |
|
| TCGA novel | 658 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348159427 rs1404961390 |
659 | N>S | No |
ClinGen gnomAD |
|
|
CA54336097 rs1021517355 |
666 | A>P | No |
ClinGen TOPMed |
|
|
CA348159478 rs1325771028 |
667 | V>L | No |
ClinGen gnomAD |
|
|
rs1290089379 CA348159486 |
668 | M>T | No |
ClinGen TOPMed |
|
|
CA54336098 rs1000790959 |
668 | M>V | No |
ClinGen TOPMed |
|
|
CA54336099 rs200447095 |
671 | L>R | No |
ClinGen Ensembl |
|
|
CA1848708 rs186209494 |
672 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348159519 rs1323439280 |
673 | Y>C | No |
ClinGen gnomAD |
|
|
rs780710808 CA1848710 |
676 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 677 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs889855334 CA348159554 |
678 | I>M | No |
ClinGen gnomAD |
|
|
rs1489076196 CA348159559 |
679 | D>G | No |
ClinGen gnomAD |
|
|
rs1294531345 CA348159575 |
681 | H>R | No |
ClinGen gnomAD |
|
|
CA54336142 rs755917552 |
683 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190275904 CA348159595 |
684 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1190275904 CA348159596 |
684 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA348159592 rs1427224277 |
684 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA348159600 rs1574207819 |
685 | H>P | No |
ClinGen Ensembl |
|
|
rs987672675 CA54336159 |
685 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs777702663 CA1848713 |
686 | P>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 686 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770970038 CA1848715 |
690 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA348159640 rs1574207908 |
691 | T>P | No |
ClinGen Ensembl |
|
|
CA1848717 rs774381123 |
692 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA54336198 rs796658726 |
693 | E>* | No |
ClinGen Ensembl |
|
|
rs189842201 CA1848719 |
694 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348159661 rs1397882816 |
694 | S>P | No |
ClinGen gnomAD |
|
|
CA1848718 rs189842201 |
694 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1848720 rs61978572 |
695 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334216676 CA348159666 |
695 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs760947743 CA1848721 |
696 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs183546677 CA1848723 |
697 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758978864 CA1848727 |
707 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767037380 CA1848728 |
708 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs777759957 CA1848731 |
709 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1848730 rs755759525 |
709 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs752356379 CA1848729 |
709 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA348159764 rs1389361745 |
710 | H>P | No |
ClinGen Ensembl |
|
|
CA348159770 rs1158596191 |
711 | T>A | No |
ClinGen gnomAD |
|
|
rs753705841 CA1848732 |
711 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs917358786 CA54337770 |
712 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA54337771 rs950209744 |
713 | I>M | No |
ClinGen TOPMed |
|
|
rs61745919 CA348159800 |
714 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61745919 CA1848749 |
714 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA54337820 rs765107910 |
715 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1848751 rs138617532 |
716 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1848752 rs750367816 |
717 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA54337832 rs893459663 |
717 | I>T | No |
ClinGen Ensembl |
|
|
rs1489055178 CA348159826 |
718 | M>I | No |
ClinGen TOPMed |
|
|
rs758335579 CA1848753 |
719 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 719 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263662657 CA348159831 |
719 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs779811516 CA1848754 |
720 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA1848755 rs747146481 |
721 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1848756 rs768658669 |
722 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA1848757 rs781402540 |
724 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1848758 rs191121056 |
725 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348159882 rs1425613090 |
726 | L>P | No |
ClinGen gnomAD |
|
|
rs1429107163 CA348159891 |
728 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA348159890 rs1429107163 |
728 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1169479019 CA348159900 |
729 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1018016297 CA54337892 |
732 | P>A | No |
ClinGen TOPMed |
|
|
CA1848759 rs150732635 |
732 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA54337930 rs150732635 |
732 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1848760 rs773591253 |
734 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 734 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364578052 CA348159955 |
738 | E>A | No |
ClinGen gnomAD |
|
|
CA1848761 rs763419042 |
739 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574212903 CA348159966 |
740 | T>S | No |
ClinGen Ensembl |
|
|
rs1279609369 CA348159972 |
741 | K>E | No |
ClinGen gnomAD |
|
|
CA1848762 rs147638703 |
741 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374207064 CA1848763 |
742 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1848786 rs376715639 |
744 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200544559 CA54343986 |
746 | F>L | No |
ClinGen 1000Genomes |
|
|
CA348160023 rs762822991 |
747 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs762822991 CA1848788 |
747 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA1848789 rs149868780 |
747 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751561709 CA1848790 |
748 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs375494260 CA1848791 |
749 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348160042 rs1361396103 |
750 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767629406 CA1848793 |
752 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767629406 CA1848792 |
752 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454048069 CA348160057 |
752 | P>S | No |
ClinGen gnomAD |
|
|
rs367884442 CA1848794 |
753 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376920802 CA1848796 |
755 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1280905675 CA348160080 |
756 | P>A | No |
ClinGen gnomAD |
|
|
CA1848797 rs757708328 |
757 | A>D | No |
ClinGen ExAC |
|
|
rs1347002052 CA348160103 |
760 | D>N | No |
ClinGen TOPMed |
|
|
rs746426080 CA1848799 |
761 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs931919961 CA54344064 |
761 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1180286375 CA348160119 |
762 | L>* | No |
ClinGen gnomAD |
|
|
rs1469364216 CA348160123 |
763 | P>A | No |
ClinGen gnomAD |
|
|
CA348160151 rs1176276980 CA348160150 |
766 | D>E | No |
ClinGen gnomAD |
|
|
CA348160145 rs1558670264 |
766 | D>H | No |
ClinGen Ensembl |
|
|
rs530511907 CA54344073 |
769 | E>G | No |
ClinGen Ensembl |
|
|
CA348160172 rs1047385844 |
770 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA54344081 rs1047385844 |
770 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1848803 rs769131505 |
771 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772979351 CA1848805 |
772 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348160181 rs1558670319 |
772 | E>K | No |
ClinGen Ensembl |
|
|
CA1848806 rs367884122 |
773 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1848808 rs536391548 |
773 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs536391548 CA1848807 |
773 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA348160203 rs1185810032 |
774 | E>K | No |
ClinGen gnomAD |
|
|
CA348160211 rs1244177107 |
775 | L>F | No |
ClinGen gnomAD |
|
|
rs758894929 CA1848842 |
775 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348160238 rs1420436692 |
779 | N>H | No |
ClinGen gnomAD |
|
|
CA348160243 rs1179038922 |
779 | N>K | No |
ClinGen gnomAD |
|
|
rs780565262 CA1848843 |
779 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348160245 rs1365795982 |
780 | V>I | No |
ClinGen gnomAD |
|
|
rs755414176 CA1848845 |
783 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs752144488 CA1848844 |
783 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781687271 CA1848846 |
785 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1331231998 CA348160294 |
787 | E>G | No |
ClinGen TOPMed |
|
|
CA54348062 rs1018368481 |
788 | M>I | No |
ClinGen Ensembl |
|
|
rs1380498681 CA348160299 |
788 | M>V | No |
ClinGen gnomAD |
|
|
CA1848847 rs370111184 |
790 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1383190841 CA348160322 |
791 | V>L | No |
ClinGen gnomAD |
|
|
CA348160328 rs1451686351 |
792 | E>* | No |
ClinGen gnomAD |
|
|
rs965891947 CA54348068 |
793 | F>L | No |
ClinGen Ensembl |
|
|
CA1848850 VAR_039233 CA348160353 rs11686014 |
795 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP |
|
|
CA1848849 rs373528164 |
795 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376681443 CA1848852 |
798 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs771921002 CA1848851 |
798 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 799 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348160381 rs1433810248 |
799 | K>N | No |
ClinGen TOPMed |
|
|
CA348160379 rs1432861122 |
799 | K>R | No |
ClinGen gnomAD |
|
|
CA348160384 rs202012523 |
800 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1848853 rs202012523 |
800 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1363355085 CA348160391 |
801 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 802 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348160416 rs1574242777 |
804 | E>G | No |
ClinGen Ensembl |
|
|
rs1419969213 CA348160412 |
804 | E>K | No |
ClinGen gnomAD |
|
|
rs1305191928 CA348160438 |
806 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs758070343 CA1848868 |
807 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA348160448 rs1248721517 |
807 | V>M | No |
ClinGen gnomAD |
|
|
rs1405750736 CA348160453 |
808 | K>E | No |
ClinGen TOPMed |
|
|
CA1848869 rs779719144 |
809 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA348160468 rs1480105355 |
810 | Q>* | No |
ClinGen gnomAD |
|
|
rs1384682800 CA348160475 |
811 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 811 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1848870 rs746785342 |
812 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848871 rs768442566 |
812 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 813 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138432794 CA1848872 |
813 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770037277 CA1848874 |
814 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1848875 rs151053141 |
817 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348160519 rs1353800055 |
818 | G>E | No |
ClinGen TOPMed |
|
|
rs150186399 CA1848877 |
818 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348160531 rs1307386400 |
820 | K>E | No |
ClinGen gnomAD |
|
|
CA1848878 rs116625089 |
821 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA54350815 rs745815827 |
822 | L>F | No |
ClinGen Ensembl |
|
|
rs570868554 CA1848883 |
823 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1848882 rs570868554 |
823 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348160565 rs1490917481 |
825 | M>I | No |
ClinGen gnomAD |
|
|
CA348160561 rs1178864572 |
825 | M>L | No |
ClinGen gnomAD |
|
|
rs749967169 CA1848884 |
825 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs749967169 CA1848885 |
825 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1848886 rs779588165 |
826 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs751214459 CA1848887 |
827 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1848889 rs781013991 |
828 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs754798379 CA1848888 |
828 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs531619873 CA1848891 |
829 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1848890 rs138666686 |
829 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA54350904 rs913061082 |
830 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 831 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA54350909 rs768718156 |
833 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1848893 rs749380442 |
833 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1848894 rs190721155 |
834 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759799723 CA1848896 |
835 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs772361360 CA1848898 |
836 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA348160640 rs1381994100 |
838 | I>M | No |
ClinGen gnomAD |
|
|
rs775946355 CA1848901 |
839 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1848900 rs775946355 |
839 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA348160644 rs1558679444 |
840 | E>K | No |
ClinGen Ensembl |
|
|
rs1574252059 CA348160657 |
841 | E>C | No |
ClinGen Ensembl |
|
|
rs1247058089 CA348160652 |
841 | E>R | No |
ClinGen gnomAD |
No associated diseases with Q4G0U5
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| 9+2 motile cilium | A motile cilium where the axoneme has a ring of nine outer microtubule doublets plus two central microtubules (and is therefore called a 9+2 axoneme). |
| axoneme | The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| manchette | A tubular array of microtubules that extends from the perinuclear ring surrounding the spermatid nucleus to the flagellar axoneme. The manchette may also contain F-actin filaments. |
| sperm flagellum | A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cerebrospinal fluid circulation | The neurological system process driven by motile cilia on ependymal cells of the brain by which cerebrospinal fluid circulates from the sites of secretion to the sites of absorption. In ventricular cavities, the flow is unidirectional and rostrocaudal, in subarachnoid spaces, the flow is multi-directional. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| establishment of localization in cell | Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation. |
| motile cilium assembly | The aggregation, arrangement and bonding together of a set of components to form a motile cilium. |
| mucociliary clearance | The respiratory system process driven by motile cilia on epithelial cells of the respiratory tract by which mucus and associated inhaled particles and pathogens trapped within it are moved out of the airways. |
| sperm flagellum assembly | The assembly and organization of the sperm flagellum, the microtubule-based axoneme and associated structures that are part of a sperm flagellum (or cilium). |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A9Q751 | Cfap221 | Cilia- and flagella-associated protein 221 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAVVKTPSRG | LKNAKEPFNN | ASPHLLKNLV | EEPKKRKEVP | NHLLESKVYA | KLVNNKVIQA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RPGIIHFGGY | QVEKQHQQIL | HLVNVSNEDT | RVHILPPQTK | YFEINYVRKE | HHLVPGLSLT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VTVTFSPDEW | RYYYDCIRVH | CKGDDTLLVP | IHAYPVMNSL | DFPSFINLSN | VLLGESKTYV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IPLQCSCPVD | FEFYITLIQS | HQAFAIEPTS | GIIPANGKMT | VTIKFTPFQY | GTAQIKMQLW |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ISQFNSQPYE | CVFTGTCYPN | MALPLEEFER | LNTLSKKVNV | PPEKAMMHIN | FHRPPAKPKP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QKVKEIEYQN | LRFPVDLSNP | FAVATVLNQE | PGKLKIKELR | EVLDQGTEIS | KTRQMKEALF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EQKVRQDIHE | EMENHLKWQV | HLGKDPMSFK | LKKELTEEWQ | KACAKYKLDR | GDPILDEEFQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RLKTEVSHKR | VVRNQEEKIK | EFHPTFDPLI | NNTWLSRSRA | QKRFQQVARK | VMIQGRLFNM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LSAVREMDKE | SILRKIGQAK | QSIAQEANFF | KFFLRRISQD | DYTSRFSVSP | KEVLPFAFPD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| CSPPQDSNEL | APDGLGLVPI | KSSEVQIKQS | YSFFNLQVPQ | LYKIKRYQPF | SVHKSSTSYR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PQKLARALKQ | GAEDEVTTIT | ALPKQDSTTQ | LSGKTSVLSM | KPPEALAMSL | DYDPLYVFNP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NPGLFAVMHP | LTYAETLIDY | HLCSHPKYKF | TKESRHGSSI | PVTQKQFLHH | TDIIPGIMHW |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KSFQSLVLSS | LPDPSKMETT | KSCDSFNSFM | LPIDVPAILD | ALPEEDRLET | VERELCEQNV |
| 790 | 800 | 810 | 820 | 830 | |
| EVMLTPEMIK | VEFPMLNYKD | IRKEKEVKDQ | AQPAEKAGEK | LLEEMRNLRG | KALNTYLILE |